testdata/exome.vcf
##fileformat=VCFv4.1
##CombineVariants="analysis_type=CombineVariants input_file=[] read_buffer_size=null phone_home=STANDARD read_filter=[] intervals=null excludeIntervals=null interval_set_rule=UNION interval_merging=ALL reference_sequence=/creph/gspipe/data/opt/ref_genome/gspipe/0.1/genomes/G1K.37/G1K.37.nt.fasta rodBind=[] nonDeterministicRandomSeed=false downsampling_type=BY_SAMPLE downsample_to_fraction=null downsample_to_coverage=1000 baq=OFF baqGapOpenPenalty=40.0 performanceLog=null useOriginalQualities=false defaultBaseQualities=-1 validation_strictness=SILENT unsafe=null num_threads=1 num_cpu_threads=null num_io_threads=null num_bam_file_handles=null read_group_black_list=null pedigree=[] pedigreeString=[] pedigreeValidationType=STRICT allow_intervals_with_unindexed_bam=false logging_level=INFO log_to_file=null help=false variant=[(RodBinding name=variant source=LF9477_vars_v1.cs.INDEL.vcf), (RodBinding name=variant2 source=LF9477_vars_v1.cs.SNP.vcf)] out=org.broadinstitute.sting.gatk.io.stubs.VCFWriterStub NO_HEADER=org.broadinstitute.sting.gatk.io.stubs.VCFWriterStub sites_only=org.broadinstitute.sting.gatk.io.stubs.VCFWriterStub genotypemergeoption=PRIORITIZE filteredrecordsmergetype=KEEP_IF_ANY_UNFILTERED rod_priority_list=variant2,variant printComplexMerges=false filteredAreUncalled=false minimalVCF=false setKey=null assumeIdenticalSamples=true minimumN=1 mergeInfoWithMaxAC=false filter_mismatching_base_and_quals=false"
##FILTER=<ID=FSFilter200,Description="FS > 200.0">
##FILTER=<ID=FSFilter60,Description="FS > 60.0">
##FILTER=<ID=HaplotypeScoreFilter13,Description="HaplotypeScore > 13.0">
##FILTER=<ID=InbreedingCoeff0_8,Description="InbreedingCoeff < -0.8">
##FILTER=<ID=MQFilter40,Description="MQ < 40.0">
##FILTER=<ID=MQRankSumFilter12_5,Description="MQRankSum < -12.5">
##FILTER=<ID=QDFilter2,Description="QD < 2.0">
##FILTER=<ID=ReadPosRankSumFilter20,Description="ReadPosRankSum < -20.0">
##FILTER=<ID=ReadPosRankSumFilter8,Description="ReadPosRankSum < -8.0">
##FILTER=<ID=SnpCluster,Description="SNPs found in clusters">
##FORMAT=<ID=AD,Number=.,Type=Integer,Description="Allelic depths for the ref and alt alleles in the order listed">
##FORMAT=<ID=DP,Number=1,Type=Integer,Description="Approximate read depth (reads with MQ=255 or with bad mates are filtered)">
##FORMAT=<ID=GQ,Number=1,Type=Float,Description="Genotype Quality">
##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype">
##FORMAT=<ID=PL,Number=.,Type=Integer,Description="Normalized, Phred-scaled likelihoods for genotypes as defined in the VCF specification">
##INFO=<ID=AB,Number=1,Type=Float,Description="Allele Balance for hets (ref/(ref+alt))">
##INFO=<ID=AC,Number=.,Type=Integer,Description="Allele count in genotypes, for each ALT allele, in the same order as listed">
##INFO=<ID=AF,Number=.,Type=Float,Description="Allele Frequency, for each ALT allele, in the same order as listed">
##INFO=<ID=AN,Number=1,Type=Integer,Description="Total number of alleles in called genotypes">
##INFO=<ID=BaseQRankSum,Number=1,Type=Float,Description="Z-score from Wilcoxon rank sum test of Alt Vs. Ref base qualities">
##INFO=<ID=DB,Number=0,Type=Flag,Description="dbSNP Membership">
##INFO=<ID=DP,Number=1,Type=Integer,Description="Approximate read depth; some reads may have been filtered">
##INFO=<ID=DS,Number=0,Type=Flag,Description="Were any of the samples downsampled?">
##INFO=<ID=Dels,Number=1,Type=Float,Description="Fraction of Reads Containing Spanning Deletions">
##INFO=<ID=FS,Number=1,Type=Float,Description="Phred-scaled p-value using Fisher's exact test to detect strand bias">
##INFO=<ID=HRun,Number=1,Type=Integer,Description="Largest Contiguous Homopolymer Run of Variant Allele In Either Direction">
##INFO=<ID=HaplotypeScore,Number=1,Type=Float,Description="Consistency of the site with at most two segregating haplotypes">
##INFO=<ID=InbreedingCoeff,Number=1,Type=Float,Description="Inbreeding coefficient as estimated from the genotype likelihoods per-sample when compared against the Hardy-Weinberg expectation">
##INFO=<ID=IndelType,Number=1,Type=String,Description="Indel type description">
##INFO=<ID=MQ,Number=1,Type=Float,Description="RMS Mapping Quality">
##INFO=<ID=MQ0,Number=1,Type=Integer,Description="Total Mapping Quality Zero Reads">
##INFO=<ID=MQRankSum,Number=1,Type=Float,Description="Z-score From Wilcoxon rank sum test of Alt vs. Ref read mapping qualities">
##INFO=<ID=QD,Number=1,Type=Float,Description="Variant Confidence/Quality by Depth">
##INFO=<ID=ReadPosRankSum,Number=1,Type=Float,Description="Z-score from Wilcoxon rank sum test of Alt vs. Ref read position bias">
##INFO=<ID=SNPEFF_AMINO_ACID_CHANGE,Number=1,Type=String,Description="Old/New amino acid for the highest-impact effect resulting from the current variant (in HGVS style)">
##INFO=<ID=SNPEFF_CODON_CHANGE,Number=1,Type=String,Description="Old/New codon for the highest-impact effect resulting from the current variant">
##INFO=<ID=SNPEFF_EFFECT,Number=1,Type=String,Description="The highest-impact effect resulting from the current variant (or one of the highest-impact effects, if there is a tie)">
##INFO=<ID=SNPEFF_EXON_ID,Number=1,Type=String,Description="Exon ID for the highest-impact effect resulting from the current variant">
##INFO=<ID=SNPEFF_FUNCTIONAL_CLASS,Number=1,Type=String,Description="Functional class of the highest-impact effect resulting from the current variant: [NONE, SILENT, MISSENSE, NONSENSE]">
##INFO=<ID=SNPEFF_GENE_BIOTYPE,Number=1,Type=String,Description="Gene biotype for the highest-impact effect resulting from the current variant">
##INFO=<ID=SNPEFF_GENE_NAME,Number=1,Type=String,Description="Gene name for the highest-impact effect resulting from the current variant">
##INFO=<ID=SNPEFF_IMPACT,Number=1,Type=String,Description="Impact of the highest-impact effect resulting from the current variant [MODIFIER, LOW, MODERATE, HIGH]">
##INFO=<ID=SNPEFF_TRANSCRIPT_ID,Number=1,Type=String,Description="Transcript ID for the highest-impact effect resulting from the current variant">
##OriginalSnpEffCmd="SnpEff eff GRCh37.64 -config /creph/gspipe/data/opt/app/snpEff/2.0.5/snpEff.config -onlyCoding true -o vcf -i vcf LF9477_vars.cs.vcf "
##OriginalSnpEffVersion="2.0.5 (build 2011-12-24), by Pablo Cingolani"
##SelectVariants="analysis_type=SelectVariants input_file=[] read_buffer_size=null phone_home=STANDARD read_filter=[] intervals=null excludeIntervals=null interval_set_rule=UNION interval_merging=ALL reference_sequence=/creph/gspipe/data/opt/ref_genome/gspipe/0.1/genomes/G1K.37/G1K.37.nt.fasta rodBind=[] nonDeterministicRandomSeed=false downsampling_type=BY_SAMPLE downsample_to_fraction=null downsample_to_coverage=1000 baq=OFF baqGapOpenPenalty=40.0 performanceLog=null useOriginalQualities=false defaultBaseQualities=-1 validation_strictness=SILENT unsafe=null num_threads=1 num_cpu_threads=null num_io_threads=null num_bam_file_handles=null read_group_black_list=null pedigree=[] pedigreeString=[] pedigreeValidationType=STRICT allow_intervals_with_unindexed_bam=false logging_level=INFO log_to_file=null help=false variant=(RodBinding name=variant source=LF9477_vars_snpeff.cs.vcf.gz) discordance=(RodBinding name= source=UNBOUND) concordance=(RodBinding name= source=UNBOUND) out=org.broadinstitute.sting.gatk.io.stubs.VCFWriterStub NO_HEADER=org.broadinstitute.sting.gatk.io.stubs.VCFWriterStub sites_only=org.broadinstitute.sting.gatk.io.stubs.VCFWriterStub sample_name=[] sample_expressions=null sample_file=null exclude_sample_name=[] exclude_sample_file=[] select_expressions=[] excludeNonVariants=false excludeFiltered=false restrictAllelesTo=ALL keepOriginalAC=false mendelianViolation=false mendelianViolationQualThreshold=0.0 select_random_number=0 select_random_fraction=0.0 remove_fraction_genotypes=0.0 selectTypeToInclude=[SNP] keepIDs=null outMVFile=null filter_mismatching_base_and_quals=false"
##UnifiedGenotyper="analysis_type=UnifiedGenotyper input_file=[./LF9477_recalaln.cs.bam] read_buffer_size=null phone_home=STANDARD read_filter=[] intervals=[/creph/gspipe/data/opt/platform/agilent/50Mb/targets_merged_250.bed] excludeIntervals=null interval_set_rule=UNION interval_merging=ALL reference_sequence=/creph/gspipe/data/opt/ref_genome/gspipe/0.1/genomes/G1K.37/G1K.37.nt.fasta rodBind=[] nonDeterministicRandomSeed=false downsampling_type=BY_SAMPLE downsample_to_fraction=null downsample_to_coverage=250 baq=CALCULATE_AS_NECESSARY baqGapOpenPenalty=40.0 performanceLog=null useOriginalQualities=false defaultBaseQualities=-1 validation_strictness=SILENT unsafe=null num_threads=1 num_cpu_threads=null num_io_threads=null num_bam_file_handles=null read_group_black_list=null pedigree=[] pedigreeString=[] pedigreeValidationType=STRICT allow_intervals_with_unindexed_bam=false logging_level=INFO log_to_file=null help=false genotype_likelihoods_model=BOTH p_nonref_model=EXACT heterozygosity=0.0010 pcr_error_rate=1.0E-4 genotyping_mode=DISCOVERY output_mode=EMIT_ALL_CONFIDENT_SITES standard_min_confidence_threshold_for_calling=30.0 standard_min_confidence_threshold_for_emitting=30.0 computeSLOD=false alleles=(RodBinding name= source=UNBOUND) min_base_quality_score=17 max_deletion_fraction=0.05 multiallelic=false max_alternate_alleles=5 min_indel_count_for_genotyping=5 indel_heterozygosity=1.25E-4 indelGapContinuationPenalty=10.0 indelGapOpenPenalty=45.0 indelHaplotypeSize=80 bandedIndel=false indelDebug=false ignoreSNPAlleles=false dbsnp=(RodBinding name=dbsnp source=/creph/gspipe/data/opt/variant/dbSNP/b135/dbSNP.b135.vcf.gz) out=org.broadinstitute.sting.gatk.io.stubs.VCFWriterStub NO_HEADER=org.broadinstitute.sting.gatk.io.stubs.VCFWriterStub sites_only=org.broadinstitute.sting.gatk.io.stubs.VCFWriterStub debug_file=null annotation=[FisherStrand, DepthOfCoverage, BaseQualityRankSumTest, ChromosomeCounts, IndelType, SpanningDeletions, AlleleBalance, MappingQualityZero, HaplotypeScore, QualByDepth, HomopolymerRun, MappingQualityRankSumTest, ReadPosRankSumTest, BaseQualityRankSumTest] excludeAnnotation=[] filter_mismatching_base_and_quals=false"
##VariantAnnotator="analysis_type=VariantAnnotator input_file=[] read_buffer_size=null phone_home=STANDARD read_filter=[] intervals=null excludeIntervals=null interval_set_rule=UNION interval_merging=ALL reference_sequence=/creph/gspipe/data/opt/ref_genome/gspipe/0.1/genomes/G1K.37/G1K.37.nt.fasta rodBind=[] nonDeterministicRandomSeed=false downsampling_type=BY_SAMPLE downsample_to_fraction=null downsample_to_coverage=1000 baq=OFF baqGapOpenPenalty=40.0 performanceLog=null useOriginalQualities=false defaultBaseQualities=-1 validation_strictness=SILENT unsafe=null num_threads=1 num_cpu_threads=null num_io_threads=null num_bam_file_handles=null read_group_black_list=null pedigree=[] pedigreeString=[] pedigreeValidationType=STRICT allow_intervals_with_unindexed_bam=false logging_level=INFO log_to_file=null help=false variant=(RodBinding name=variant source=LF9477_vars.cs.vcf) snpEffFile=(RodBinding name=variant2 source=-) dbsnp=(RodBinding name= source=UNBOUND) comp=[] resource=[] out=org.broadinstitute.sting.gatk.io.stubs.VCFWriterStub NO_HEADER=org.broadinstitute.sting.gatk.io.stubs.VCFWriterStub sites_only=org.broadinstitute.sting.gatk.io.stubs.VCFWriterStub annotation=[SnpEff] excludeAnnotation=[] group=[] expression=[] useAllAnnotations=false list=false vcfContainsOnlyIndels=false MendelViolationGenotypeQualityThreshold=0.0 requireStrictAlleleMatch=false filter_mismatching_base_and_quals=false"
##VariantFiltration="analysis_type=VariantFiltration input_file=[] read_buffer_size=null phone_home=STANDARD read_filter=[] intervals=null excludeIntervals=null interval_set_rule=UNION interval_merging=ALL reference_sequence=/creph/gspipe/data/opt/ref_genome/gspipe/0.1/genomes/G1K.37/G1K.37.nt.fasta rodBind=[] nonDeterministicRandomSeed=false downsampling_type=BY_SAMPLE downsample_to_fraction=null downsample_to_coverage=1000 baq=OFF baqGapOpenPenalty=40.0 performanceLog=null useOriginalQualities=false defaultBaseQualities=-1 validation_strictness=SILENT unsafe=null num_threads=1 num_cpu_threads=null num_io_threads=null num_bam_file_handles=null read_group_black_list=null pedigree=[] pedigreeString=[] pedigreeValidationType=STRICT allow_intervals_with_unindexed_bam=false logging_level=INFO log_to_file=null help=false variant=(RodBinding name=variant source=SNP.selected.vcf) mask=(RodBinding name= source=UNBOUND) out=org.broadinstitute.sting.gatk.io.stubs.VCFWriterStub NO_HEADER=org.broadinstitute.sting.gatk.io.stubs.VCFWriterStub sites_only=org.broadinstitute.sting.gatk.io.stubs.VCFWriterStub filterExpression=[QD < 2.0, MQ < 40.0, FS > 60.0, HaplotypeScore > 13.0, MQRankSum < -12.5, ReadPosRankSum < -8.0] filterName=[QDFilter2, MQFilter40, FSFilter60, HaplotypeScoreFilter13, MQRankSumFilter12_5, ReadPosRankSumFilter8] genotypeFilterExpression=[] genotypeFilterName=[] clusterSize=3 clusterWindowSize=10 maskExtension=0 maskName=Mask missingValuesInExpressionsShouldEvaluateAsFailing=false filter_mismatching_base_and_quals=false"
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##reference=file:///creph/gspipe/data/opt/ref_genome/gspipe/0.1/genomes/G1K.37/G1K.37.nt.fasta
##source=SelectVariants
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT LF9477
1 14907 rs79585140 A G 317.34 MQFilter40 AB=0.604;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.052;DB;DP=54;Dels=0.0;FS=3.637;HRun=1;HaplotypeScore=1.86;MQ=27.49;MQ0=14;MQRankSum=0.137;QD=5.88;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=DDX11L1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000450305 GT:AD:DP:GQ:PL 0/1:32,21:54:99:347,0,514
1 14930 rs75454623 A G 351.37 MQFilter40 AB=0.61;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.755;DB;DP=59;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=5.2196;MQ=31.7;MQ0=5;MQRankSum=-0.427;QD=5.96;ReadPosRankSum=-0.9;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=DDX11L1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000450305 GT:AD:DP:GQ:PL 0/1:36,23:59:99:381,0,680
1 17512 . C G 199.46 MQFilter40 AB=0.769;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.863;DP=39;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9832;MQ=36.5;MQ0=3;MQRankSum=-1.425;QD=5.11;ReadPosRankSum=-0.804;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=DDX11L1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000450305 GT:AD:DP:GQ:PL 0/1:30,9:39:99:229,0,869
1 17538 . C A 146.35 MQFilter40 AB=0.8;AC=1;AF=0.50;AN=2;BaseQRankSum=0.629;DP=50;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=30.01;MQ0=15;MQRankSum=0.71;QD=2.93;ReadPosRankSum=0.832;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=DDX11L1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000450305 GT:AD:DP:GQ:PL 0/1:40,10:50:99:176,0,752
1 63735 . CCTA C 176.49 PASS AB=0.588;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DP=6;FS=0.0;HRun=0;HaplotypeScore=24.4376;IndelType=D;MQ=23.59;MQ0=0;MQRankSum=0.736;QD=17.65;ReadPosRankSum=0.736;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR4F5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000534990 GT:AD:DP:GQ:PL 0/1:3,7:6:50:216,0,50
1 69511 rs75062661 A G 1578.96 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=104;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=22.43;MQ0=18;QD=15.18;SNPEFF_AMINO_ACID_CHANGE=T141A;SNPEFF_CODON_CHANGE=Aca/Gca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_69091_70008;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR4F5;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000335137 GT:AD:DP:GQ:PL 1/1:0,104:104:99:1612,168,0
1 753269 rs61770172 C G 536.72 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=20.88;MQ0=18;QD=13.42;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=FAM87B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326734 GT:AD:DP:GQ:PL 1/1:0,40:40:51.11:570,51,0
1 753405 rs61770173 C A 203.64 MQFilter40 AB=0.515;AC=1;AF=0.50;AN=2;BaseQRankSum=2.916;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=38.34;MQ0=3;MQRankSum=-3.837;QD=5.99;ReadPosRankSum=0.197;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=FAM87B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326734 GT:AD:DP:GQ:PL 0/1:17,16:34:99:234,0,489
1 753425 rs3131970 T C 179.98 MQFilter40 AB=0.448;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.416;DB;DP=29;Dels=0.0;FS=2.318;HRun=0;HaplotypeScore=0.0;MQ=38.05;MQ0=4;MQRankSum=-3.416;QD=6.21;ReadPosRankSum=0.092;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=FAM87B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326734 GT:AD:DP:GQ:PL 0/1:13,16:29:99:210,0,374
1 753474 rs2073814 C G 127.08 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.811;DB;DP=16;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=40.5;MQ0=2;MQRankSum=-2.281;QD=7.94;ReadPosRankSum=-0.555;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=FAM87B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326734 GT:AD:DP:GQ:PL 0/1:8,8:16:99:157,0,218
1 753541 rs2073813 G A 79.21 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.16;MQ0=0;MQRankSum=0.727;QD=19.8;ReadPosRankSum=0.727;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=FAM87B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326734 GT:AD:DP:GQ:PL 0/1:1,3:4:27.97:109,0,28
1 808631 rs11240779 G A 521.23 PASS AB=0.528;AC=1;AF=0.50;AN=2;BaseQRankSum=4.01;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9998;MQ=58.35;MQ0=0;MQRankSum=0.182;QD=14.48;ReadPosRankSum=-1.436;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AL669831.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408219 GT:AD:DP:GQ:PL 0/1:19,17:36:99:551,0,482
1 808922 rs6594027 G A 6076.53 PASS AC=2;AF=1.00;AN=2;DB;DP=198;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.6975;MQ=40.27;MQ0=10;QD=30.69;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AL669831.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408219 GT:AD:DP:GQ:PL 1/1:0,197:198:99:6077,484,0
1 808928 rs11240780 C T 2175.48 PASS AB=0.56;AC=1;AF=0.50;AN=2;BaseQRankSum=3.19;DB;DP=194;Dels=0.0;FS=0.554;HRun=0;HaplotypeScore=4.6444;MQ=40.98;MQ0=8;MQRankSum=0.44;QD=11.21;ReadPosRankSum=-0.032;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AL669831.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408219 GT:AD:DP:GQ:PL 0/1:108,85:194:99:2205,0,2817
1 866319 rs9988021 G A 412.59 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.55;MQ0=0;QD=25.79;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SAMD11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342066 GT:AD:DP:GQ:PL 1/1:0,16:16:33.11:446,33,0
1 866511 . C CCCCT 345.48 PASS AC=2;AF=1.00;AN=2;DP=10;FS=0.0;HRun=0;HaplotypeScore=39.4729;IndelType=I;MQ=57.52;MQ0=0;QD=34.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SAMD11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342066 GT:AD:DP:GQ:PL 1/1:3,7:10:18.06:387,18,0
1 870903 rs13303094 T C 135.38 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.84;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SAMD11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342066 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:168,12,0
1 871334 rs4072383 G T 106.57 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=1.38;DB;DP=6;Dels=0.0;FS=3.31;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.38;QD=17.76;ReadPosRankSum=-0.72;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SAMD11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000437963 GT:AD:DP:GQ:PL 0/1:2,4:6:50.63:137,0,51
1 874950 rs6143081 T TCCCTGGAGGACC 1802.67 PASS AC=2;AF=1.00;AN=2;DB;DP=13;FS=0.0;HRun=0;HaplotypeScore=89.026;IndelType=I;MQ=36.95;MQ0=0;QD=138.67;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NOC2L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327044 GT:AD:DP:GQ:PL 1/1:5,7:13:36.12:1845,36,0
1 876499 rs4372192 A G 79.72 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=6;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.57;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NOC2L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327044 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:112,9,0
1 877715 rs6605066 C G 46.65 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=49.84;MQ0=0;QD=23.32;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NOC2L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327044 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:78,6,0
1 877831 rs6672356 T C 73.99 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.5;SNPEFF_AMINO_ACID_CHANGE=W343R;SNPEFF_CODON_CHANGE=Tgg/Cgg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_877790_877868;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SAMD11;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000342066 GT:AD:DP:GQ:PL 1/1:0,4:4:9.01:106,9,0
1 879676 rs6605067 G A 115.26 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.82;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NOC2L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000496938 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:148,12,0
1 879687 rs2839 T C 108.07 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.61;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NOC2L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000496938 GT:AD:DP:GQ:PL 1/1:0,5:5:12.03:141,12,0
1 880238 rs3748592 A G 498.75 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.63;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NOC2L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000496938 GT:AD:DP:GQ:PL 1/1:0,14:14:39.13:532,39,0
1 881627 rs2272757 G A 301.54 PASS AB=0.586;AC=1;AF=0.50;AN=2;BaseQRankSum=0.111;DB;DP=29;Dels=0.0;FS=5.636;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.199;QD=10.4;ReadPosRankSum=0.288;SNPEFF_AMINO_ACID_CHANGE=L615;SNPEFF_CODON_CHANGE=Ctg/Ttg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_881553_881666;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NOC2L;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000327044 GT:AD:DP:GQ:PL 0/1:17,12:29:99:332,0,549
1 882033 rs2272756 G A 100.68 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.922;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.28;MQ0=0;MQRankSum=1.495;QD=14.38;ReadPosRankSum=0.198;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SAMD11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342066 GT:AD:DP:GQ:PL 0/1:2,5:7:63.71:131,0,64
1 883625 rs4970378 A G 85.17 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.39;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SAMD11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342066 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:117,9,0
1 884092 . A G 34.92 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.72;DP=7;Dels=0.0;FS=4.771;HRun=0;HaplotypeScore=3.9964;MQ=61.23;MQ0=0;MQRankSum=-0.72;QD=4.99;ReadPosRankSum=-1.38;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SAMD11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342066 GT:AD:DP:GQ:PL 0/1:4,2:7:64.91:65,0,106
1 887560 rs3748595 A C 401.01 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.85;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NOC2L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000487214 GT:AD:DP:GQ:PL 1/1:0,13:13:33.11:434,33,0
1 887801 rs3828047 A G 672.93 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.59;SNPEFF_AMINO_ACID_CHANGE=T394;SNPEFF_CODON_CHANGE=acT/acC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_887792_887980;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NOC2L;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000327044 GT:AD:DP:GQ:PL 1/1:0,22:22:51.17:706,51,0
1 888639 rs3748596 T C 766.27 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=55.94;MQ0=0;QD=31.93;SNPEFF_AMINO_ACID_CHANGE=E306;SNPEFF_CODON_CHANGE=gaA/gaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_888555_888668;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NOC2L;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000327044 GT:AD:DP:GQ:PL 1/1:0,24:24:60.20:799,60,0
1 888659 rs3748597 T C 609.10 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=54.52;MQ0=0;QD=33.84;SNPEFF_AMINO_ACID_CHANGE=I300V;SNPEFF_CODON_CHANGE=Atc/Gtc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_888555_888668;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NOC2L;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000327044 GT:AD:DP:GQ:PL 1/1:0,18:18:48.16:642,48,0
1 889158 rs56262069 G C 386.28 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.75;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NOC2L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469563 GT:AD:DP:GQ:PL 1/1:0,15:15:42.05:419,42,0
1 889159 rs13302945 A C 386.28 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.75;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NOC2L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469563 GT:AD:DP:GQ:PL 1/1:0,15:15:42.05:419,42,0
1 892745 rs13303227 G A 87.83 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.28;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NOC2L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469563 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:120,9,0
1 894573 rs13303010 G A 361.28 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.33;MQ0=0;QD=25.81;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NOC2L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327044 GT:AD:DP:GQ:PL 1/1:0,14:14:30.10:394,30,0
1 897325 rs4970441 G C 2332.47 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.5784;MQ=59.73;MQ0=0;QD=34.3;SNPEFF_AMINO_ACID_CHANGE=A203;SNPEFF_CODON_CHANGE=gcG/gcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_897206_897427;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KLHL17;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000338591 GT:AD:DP:GQ:PL 1/1:0,68:68:99:2365,181,0
1 897564 rs13303229 T C 43.53 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=14.51;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KLHL17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000338591 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:75,6,0
1 898323 rs6605071 T C 123.76 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.94;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KLHL17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463212 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:156,12,0
1 900205 rs4970436 T C 39.17 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=19.59;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KLHL17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463212 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:70,6,0
1 900505 rs28705211 G C 325.18 PASS AB=0.483;AC=1;AF=0.50;AN=2;BaseQRankSum=0.758;DB;DP=29;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.758;QD=11.21;ReadPosRankSum=-0.363;SNPEFF_AMINO_ACID_CHANGE=V497;SNPEFF_CODON_CHANGE=gtG/gtC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_900343_901094;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KLHL17;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000455747 GT:AD:DP:GQ:PL 0/1:14,15:29:99:355,0,277
1 909073 rs3892467 C T 344.46 PASS AB=0.56;AC=1;AF=0.50;AN=2;BaseQRankSum=1.724;DB;DP=25;Dels=0.0;FS=2.187;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.082;QD=13.78;ReadPosRankSum=1.615;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf170;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341290 GT:AD:DP:GQ:PL 0/1:14,11:25:99:374,0,490
1 909238 rs3829740 G C 190.97 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.317;DB;DP=21;Dels=0.0;FS=4.867;HRun=1;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=-0.158;QD=9.09;ReadPosRankSum=1.109;SNPEFF_AMINO_ACID_CHANGE=R452P;SNPEFF_CODON_CHANGE=cGt/cCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_909213_909431;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEKHN1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000379407 GT:AD:DP:GQ:PL 0/1:14,7:21:99:221,0,343
1 909419 rs28548431 C T 106.12 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=1.38;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=15.16;ReadPosRankSum=-0.72;SNPEFF_AMINO_ACID_CHANGE=D512;SNPEFF_CODON_CHANGE=gaC/gaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_909213_909431;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEKHN1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000379407 GT:AD:DP:GQ:PL 0/1:3,4:7:47.41:136,0,47
1 909555 rs2340594 A G 406.71 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=6;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.05;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf170;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341290 GT:AD:DP:GQ:PL 1/1:0,14:14:42.04:440,42,0
1 909768 rs2340593 A G 1996.97 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.28;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf170;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341290 GT:AD:DP:GQ:PL 1/1:0,60:60:99:2030,153,0
1 914852 rs13303368 G C 32.23 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=8.06;ReadPosRankSum=0.0;SNPEFF_AMINO_ACID_CHANGE=Q406E;SNPEFF_CODON_CHANGE=Cag/Gag;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_914261_916037;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf170;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000341290 GT:AD:DP:GQ:PL 0/1:2,2:4:62.22:62,0,69
1 914876 rs13302983 T C 105.66 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.42;SNPEFF_AMINO_ACID_CHANGE=S398G;SNPEFF_CODON_CHANGE=Agc/Ggc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_914261_916037;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf170;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000341290 GT:AD:DP:GQ:PL 1/1:0,4:4:12.02:138,12,0
1 914940 rs13303033 T C 42.85 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.026;QD=8.57;ReadPosRankSum=1.026;SNPEFF_AMINO_ACID_CHANGE=A376;SNPEFF_CODON_CHANGE=gcA/gcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_914261_916037;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf170;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000341290 GT:AD:DP:GQ:PL 0/1:2,3:5:35.74:73,0,36
1 915227 rs13303355 A G 1221.30 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=54.32;MQ0=0;QD=35.92;SNPEFF_AMINO_ACID_CHANGE=L281;SNPEFF_CODON_CHANGE=Ttg/Ctg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_914261_916037;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf170;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000341290 GT:AD:DP:GQ:PL 1/1:0,34:34:99:1254,99,0
1 916834 rs6694632 G A 41.81 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=49.84;MQ0=0;QD=20.9;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf170;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341290 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:73,6,0
1 935222 rs2298214 C A 60.96 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.922;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9983;MQ=53.95;MQ0=0;MQRankSum=-0.922;QD=7.62;ReadPosRankSum=-2.017;SNPEFF_AMINO_ACID_CHANGE=R44S;SNPEFF_CODON_CHANGE=agG/agT;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_935072_935552;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HES4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000428771 GT:AD:DP:GQ:PL 0/1:4,4:8:90.95:91,0,136
1 948692 rs2341365 G A 51.75 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.87;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ISG15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000379389 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:83,6,0
1 948846 rs3841266 T TA 670.40 PASS AC=2;AF=1.00;AN=2;DB;DP=17;FS=0.0;HRun=1;HaplotypeScore=108.8997;IndelType=I;MQ=61.88;MQ0=0;QD=39.44;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_1_948803_948956;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ISG15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000379389 GT:AD:DP:GQ:PL 1/1:0,17:17:48.16:712,48,0
1 948870 rs4615788 C G 552.15 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.6;MQ0=0;QD=30.68;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_1_948803_948956;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ISG15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000379389 GT:AD:DP:GQ:PL 1/1:0,18:18:51.14:585,51,0
1 948921 rs15842 T C 1167.55 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=60.29;MQ0=0;QD=31.56;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_1_948803_948956;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ISG15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000379389 GT:AD:DP:GQ:PL 1/1:0,37:37:93.27:1201,93,0
1 949235 rs2465124 G A 169.10 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.82;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ISG15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000379389 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:202,15,0
1 949608 rs1921 G A 530.67 PASS AB=0.472;AC=1;AF=0.50;AN=2;BaseQRankSum=0.19;DB;DP=36;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.761;QD=14.74;ReadPosRankSum=1.584;SNPEFF_AMINO_ACID_CHANGE=S83N;SNPEFF_CODON_CHANGE=aGc/aAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_949364_949920;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ISG15;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000379389 GT:AD:DP:GQ:PL 0/1:17,19:36:99:561,0,508
1 949654 rs8997 A G 977.80 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.92;SNPEFF_AMINO_ACID_CHANGE=V98;SNPEFF_CODON_CHANGE=gtA/gtG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_949364_949920;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ISG15;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000379389 GT:AD:DP:GQ:PL 1/1:0,28:28:81.23:1011,81,0
1 949925 rs2799070 C T 338.41 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.2;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ISG15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000379389 GT:AD:DP:GQ:PL 1/1:0,12:12:27.09:371,27,0
1 957898 rs2799064 G T 196.14 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.799;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.529;QD=12.26;ReadPosRankSum=-1.27;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000379370 GT:AD:DP:GQ:PL 0/1:9,7:16:99:226,0,324
1 970765 . C T 432.16 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=0.415;DP=27;Dels=0.0;FS=4.374;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=-1.732;QD=16.01;ReadPosRankSum=-0.024;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000379370 GT:AD:DP:GQ:PL 0/1:12,15:27:99:462,0,396
1 977203 rs3121552 G C 79.98 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=51.77;MQ0=0;QD=26.66;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469403 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:112,9,0
1 977330 rs2799066 T C 284.88 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.49;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469403 GT:AD:DP:GQ:PL 1/1:0,10:10:24.08:318,24,0
1 977570 rs2710876 G A 448.05 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.87;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469403 GT:AD:DP:GQ:PL 1/1:0,15:15:36.12:481,36,0
1 980460 rs3128097 G A 453.89 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.33;MQ0=0;QD=32.42;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469403 GT:AD:DP:GQ:PL 1/1:0,14:14:39.12:487,39,0
1 981087 rs3128098 A G 1285.53 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.45;MQ0=0;QD=30.61;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469403 GT:AD:DP:GQ:PL 1/1:0,42:42:99:1319,108,0
1 981931 rs2465128 A G 202 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.86;SNPEFF_AMINO_ACID_CHANGE=S1022;SNPEFF_CODON_CHANGE=tcA/tcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_981777_982115;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGRN;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000379370 GT:AD:DP:GQ:PL 1/1:0,7:7:21.04:235,21,0
1 982444 rs3128099 A G 49.41 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.7;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479707 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
1 982462 rs3128100 T C 47.97 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.98;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479707 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
1 982513 rs3128101 T C 35.21 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=47.12;MQ0=0;QD=17.6;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479707 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:66,6,0
1 982941 rs3128102 T C 2373.28 PASS AC=2;AF=1.00;AN=2;DB;DP=71;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.9332;MQ=60.0;MQ0=0;QD=33.43;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479707 GT:AD:DP:GQ:PL 1/1:0,70:71:99:2406,187,0
1 982994 rs10267 T C 2158.32 PASS AC=2;AF=1.00;AN=2;DB;DP=73;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.74;MQ0=0;QD=29.57;SNPEFF_AMINO_ACID_CHANGE=F1186;SNPEFF_CODON_CHANGE=ttT/ttC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_982953_983067;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGRN;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000379370 GT:AD:DP:GQ:PL 1/1:0,73:73:99:2191,174,0
1 985266 rs2275813 C T 426.37 PASS AB=0.348;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.512;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-2.15;QD=18.54;ReadPosRankSum=-0.921;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466223 GT:AD:DP:GQ:PL 0/1:8,15:23:99:456,0,227
1 985449 rs56255212 G A 35.61 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=7.12;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466223 GT:AD:DP:GQ:PL 1/1:0,5:5:6.02:67,6,0
1 986443 rs2710887 C T 437.06 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.62;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466223 GT:AD:DP:GQ:PL 1/1:0,13:13:36.10:470,36,0
1 987200 rs9803031 C T 520.77 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.45;MQ0=0;QD=34.72;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466223 GT:AD:DP:GQ:PL 1/1:0,15:15:42.14:554,42,0
1 998395 rs7526076 A G 124.81 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.96;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RP11-465B22.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000394517 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:157,12,0
1 998582 rs3813194 G C 41.52 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=13.84;ReadPosRankSum=-0.736;SNPEFF_EFFECT=SPLICE_SITE_DONOR;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RP11-465B22.3;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000456409 GT:AD:DP:GQ:PL 0/1:1,2:3:32.73:72,0,33
1 1018021 rs61766325 G A 41.49 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=8.3;ReadPosRankSum=0.358;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf159;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000379319 GT:AD:DP:GQ:PL 0/1:3,2:5:60.40:71,0,60
1 1021415 rs3737728 A G 210.32 PASS AB=0.619;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.81;DB;DP=21;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.4725;MQ=60.0;MQ0=0;MQRankSum=0.347;QD=10.02;ReadPosRankSum=-1.119;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf159;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427787 GT:AD:DP:GQ:PL 0/1:13,8:21:99:240,0,382
1 1103542 rs7518873 T C 87.05 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.02;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=MIR200A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000384875 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:119,9,0
1 1158631 rs6603781 A G 917.32 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=58.9;MQ0=0;QD=24.14;SNPEFF_AMINO_ACID_CHANGE=D190;SNPEFF_CODON_CHANGE=gaT/gaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_1158624_1158737;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SDF4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000263741 GT:AD:DP:GQ:PL 1/1:1,37:38:78.21:950,78,0
1 1159517 rs6702268 T C 38.24 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=19.12;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SDF4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000459994 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:69,6,0
1 1229680 rs2477781 G T 52.28 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.14;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACAP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000379037 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
1 1235416 rs147197474 G A 237.52 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=1.324;DB;DP=15;Dels=0.0;FS=2.158;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=15.83;ReadPosRankSum=-0.652;SNPEFF_AMINO_ACID_CHANGE=F158;SNPEFF_CODON_CHANGE=ttC/ttT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_1235353_1235448;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACAP3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000353662 GT:AD:DP:GQ:PL 0/1:7,8:15:99:268,0,206
1 1246004 rs2296474 A G 4208.37 PASS AC=2;AF=1.00;AN=2;DB;DP=128;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;QD=32.88;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CPSF3L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294579 GT:AD:DP:GQ:PL 1/1:0,128:128:99:4208,319,0
1 1248090 . G A 277.95 PASS AB=0.586;AC=1;AF=0.50;AN=2;BaseQRankSum=0.58;DP=29;Dels=0.0;FS=6.219;HRun=0;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=-0.348;QD=9.58;ReadPosRankSum=0.162;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CPSF3L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000430786 GT:AD:DP:GQ:PL 0/1:17,12:29:99:308,0,480
1 1249187 rs12142199 G A 1626.73 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.9867;MQ=60.0;MQ0=0;QD=31.9;SNPEFF_AMINO_ACID_CHANGE=F187;SNPEFF_CODON_CHANGE=ttC/ttT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_1249112_1249301;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CPSF3L;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000294579 GT:AD:DP:GQ:PL 1/1:0,51:51:99:1660,123,0
1 1254136 rs4970432 G A 426.14 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.74;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CPSF3L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000490853 GT:AD:DP:GQ:PL 1/1:0,11:11:33.11:459,33,0
1 1254436 rs1886773 A G 331.41 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.05;MQ0=0;QD=27.62;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CPSF3L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000490853 GT:AD:DP:GQ:PL 1/1:0,12:12:30.09:364,30,0
1 1254443 rs1886772 G A 399.66 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.33;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CPSF3L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000490853 GT:AD:DP:GQ:PL 1/1:0,11:11:33.09:433,33,0
1 1254841 rs10907179 C G 1236.92 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=59.46;MQ0=0;QD=28.77;SNPEFF_AMINO_ACID_CHANGE=G100;SNPEFF_CODON_CHANGE=ggG/ggC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_1254713_1254904;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CPSF3L;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000294579 GT:AD:DP:GQ:PL 1/1:0,43:43:99:1270,105,0
1 1262591 rs2296472 C T 1255.13 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.88;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GLTPD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343938 GT:AD:DP:GQ:PL 1/1:0,42:42:99:1288,102,0
1 1262966 rs307349 C T 408.52 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.04;SNPEFF_AMINO_ACID_CHANGE=R156;SNPEFF_CODON_CHANGE=cgC/cgT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_1262621_1264277;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GLTPD1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000343938 GT:AD:DP:GQ:PL 1/1:0,12:12:36.09:442,36,0
1 1263144 rs307350 G A 1948.80 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.59;MQ0=0;QD=34.8;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GLTPD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000488011 GT:AD:DP:GQ:PL 1/1:0,56:56:99:1982,150,0
1 1263362 rs4970433 G A 133.38 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.34;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GLTPD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000488011 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:166,12,0
1 1263457 rs307351 T C 50.63 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=16.88;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GLTPD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464957 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:82,6,0
1 1268847 rs307378 T G 959.05 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.7887;MQ=59.23;MQ0=0;QD=31.97;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DVL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263743 GT:AD:DP:GQ:PL 1/1:0,30:30:75.24:992,75,0
1 1269554 rs307377 T C 166.68 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=55.21;MQ0=0;QD=33.34;SNPEFF_AMINO_ACID_CHANGE=C757R;SNPEFF_CODON_CHANGE=Tgc/Cgc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_1268886_1270686;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAS1R3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000339381 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:199,15,0
1 1273278 rs307370 A G 122.30 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=54.2;MQ0=0;QD=24.46;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DVL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472445 GT:AD:DP:GQ:PL 1/1:0,5:5:15.01:155,15,0
1 1274242 rs307369 A G 41.03 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=45.96;MQ0=0;QD=20.51;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DVL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472445 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:72,6,0
1 1275264 . A ACAGCCGCATGTCCCCCAGCAGCCCCCACAGACCCACCCG 852.04 PASS AC=2;AF=1.00;AN=2;DP=21;FS=0.0;HRun=0;HaplotypeScore=416.186;IndelType=I;MQ=55.41;MQ0=0;QD=40.57;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DVL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472445 GT:AD:DP:GQ:PL 1/1:5,8:21:42.03:894,42,0
1 1276973 . G GACAC 1697.72 PASS AC=2;AF=1.00;AN=2;DP=22;FS=0.0;HRun=0;HaplotypeScore=70.1253;IndelType=I;MQ=54.2;MQ0=0;QD=77.17;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DVL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472445 GT:AD:DP:GQ:PL 1/1:2,19:22:66.23:1740,66,0
1 1277533 rs307362 T C 129.81 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.54;SNPEFF_AMINO_ACID_CHANGE=P122;SNPEFF_CODON_CHANGE=ccA/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_1277433_1277536;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DVL1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000345100 GT:AD:DP:GQ:PL 1/1:0,7:7:12.04:162,12,0
1 1278237 rs307361 T C 186.43 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.71;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DVL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263743 GT:AD:DP:GQ:PL 1/1:0,9:9:18.06:219,18,0
1 1284490 rs150789461 G A 121.83 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.39;MQ0=0;QD=13.54;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MXRA8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309212 GT:AD:DP:GQ:PL 1/1:2,7:9:12.04:154,12,0
1 1289367 rs35062587 CTG C 1360.20 PASS AC=2;AF=1.00;AN=2;DB;DP=29;FS=0.0;HRun=0;HaplotypeScore=100.7718;IndelType=D;MQ=57.67;MQ0=1;QD=43.88;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MXRA8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460473 GT:AD:DP:GQ:PL 1/1:0,31:29:87.29:1402,87,0
1 1289911 rs4970365 G A 191.29 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.88;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MXRA8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460473 GT:AD:DP:GQ:PL 1/1:0,6:6:18.05:224,18,0
1 1293764 rs34841888 G C 161.40 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.9;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MXRA8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309212 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:194,15,0
1 1296691 rs2765025 C G 1190.62 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.07;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MXRA8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309212 GT:AD:DP:GQ:PL 1/1:0,35:36:93.30:1224,93,0
1 1296818 rs2765024 C G 167.59 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=6;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.93;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MXRA8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309212 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:200,15,0
1 1308982 rs2765015 A G 34.09 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.05;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AURKAIP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000321751 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:65,6,0
1 1323078 rs12729599 A G 43.53 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.21;MQ0=0;QD=8.71;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CCNL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408918 GT:AD:DP:GQ:PL 1/1:0,5:5:6.02:75,6,0
1 1323143 rs141100746 CCT C 477.14 PASS AC=2;AF=1.00;AN=2;DB;DP=11;FS=0.0;HRun=0;HaplotypeScore=50.4954;IndelType=D;MQ=60.98;MQ0=0;QD=43.38;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CCNL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408918 GT:AD:DP:GQ:PL 1/1:0,11:11:33.11:519,33,0
1 1387667 rs1781144 C G 680.02 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.85;MQ0=0;QD=34.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATAD3C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378785 GT:AD:DP:GQ:PL 1/1:0,20:20:57.18:713,57,0
1 1395983 rs2801372 T C 321.89 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.66;MQ0=0;QD=32.19;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATAD3C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475091 GT:AD:DP:GQ:PL 1/1:0,10:10:27.09:355,27,0
1 1417696 rs819970 C G 38.30 QDFilter2 AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=0.41;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=50.09;MQ0=1;MQRankSum=-3.693;QD=1.74;ReadPosRankSum=0.858;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATAD3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000308647 GT:AD:DP:GQ:PL 0/1:14,8:22:68.30:68,0,448
1 1423225 . CCT C 1404.94 PASS AB=0.689;AC=1;AF=0.50;AN=2;BaseQRankSum=6.753;DP=103;FS=20.41;HRun=0;HaplotypeScore=535.0083;IndelType=D;MQ=49.6;MQ0=0;MQRankSum=0.513;QD=13.51;ReadPosRankSum=1.129;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATAD3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378736 GT:AD:DP:GQ:PL 0/1:57,47:103:99:1444,0,2058
1 1458073 rs3118507 A G 66.44 PASS AB=0.692;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.855;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=52.39;MQ0=0;MQRankSum=-1.466;QD=5.11;ReadPosRankSum=0.694;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATAD3A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000439513 GT:AD:DP:GQ:PL 0/1:9,4:13:96.44:96,0,333
1 1469546 rs3128344 G A 273.33 PASS AB=0.45;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.367;MQ=55.58;MQ0=0;MQRankSum=-0.304;QD=13.67;ReadPosRankSum=2.811;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATAD3A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000400830 GT:AD:DP:GQ:PL 0/1:9,11:20:99:303,0,254
1 1479057 rs61777888 A T 104.62 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=1.12;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9578;MQ=50.65;MQ0=0;MQRankSum=-1.12;QD=3.49;ReadPosRankSum=-2.754;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SSU72;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378725 GT:AD:DP:GQ:PL 0/1:20,8:30:99:135,0,493
1 1479105 rs5772046 C CCT 722.14 PASS AB=0.622;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.252;DB;DP=26;FS=0.0;HRun=0;HaplotypeScore=115.5248;IndelType=I;MQ=55.01;MQ0=0;MQRankSum=2.027;QD=25.79;ReadPosRankSum=-0.596;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SSU72;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378725 GT:AD:DP:GQ:PL 0/1:11,17:26:99:761,0,316
1 1479333 rs7533 A G 559.96 PASS AB=0.543;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.852;DB;DP=46;Dels=0.0;FS=6.474;HRun=2;HaplotypeScore=0.5784;MQ=59.5;MQ0=0;MQRankSum=-0.662;QD=12.17;ReadPosRankSum=0.221;SNPEFF_AMINO_ACID_CHANGE=P133;SNPEFF_CODON_CHANGE=ccT/ccC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_1479249_1479367;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SSU72;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000291386 GT:AD:DP:GQ:PL 0/1:25,21:46:99:590,0,783
1 1509825 rs6666293 A G 111.95 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.365;DB;DP=10;Dels=0.0;FS=2.43;HRun=1;HaplotypeScore=0.0;MQ=57.66;MQ0=0;MQRankSum=-0.365;QD=11.2;ReadPosRankSum=0.365;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SSU72;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000291386 GT:AD:DP:GQ:PL 0/1:4,6:10:99:142,0,104
1 1551927 rs7418389 T C 197.60 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.23;SNPEFF_AMINO_ACID_CHANGE=F15L;SNPEFF_CODON_CHANGE=Ttc/Ctc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_1551888_1551994;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MIB2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000357210 GT:AD:DP:GQ:PL 1/1:0,7:7:18.06:230,18,0
1 1558792 rs12755088 T C 207.56 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.06;SNPEFF_AMINO_ACID_CHANGE=M1T;SNPEFF_CODON_CHANGE=aTg/aCg;SNPEFF_EFFECT=START_LOST;SNPEFF_EXON_ID=exon_1_1558769_1559079;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MIB2;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000504599 GT:AD:DP:GQ:PL 1/1:0,9:9:18.05:240,18,0
1 1562895 rs12735861 C T 213.36 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.751;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.39;MQ0=0;MQRankSum=0.751;QD=23.71;ReadPosRankSum=0.751;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MIB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467597 GT:AD:DP:GQ:PL 1/1:1,8:9:21.05:246,21,0
1 1564712 rs61774907 G T 77.26 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=19.32;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MIB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464570 GT:AD:DP:GQ:PL 1/1:0,4:4:9.02:109,9,0
1 1571640 . G T 207.90 MQFilter40 AC=2;AF=1.00;AN=2;BaseQRankSum=0.747;DP=21;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9578;MQ=18.29;MQ0=13;MQRankSum=0.747;QD=9.9;ReadPosRankSum=0.747;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MMP23B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356026 GT:AD:DP:GQ:PL 1/1:10,11:21:21.06:241,21,0
1 1574019 rs9442412 A G 499.83 MQFilter40 AB=0.425;AC=1;AF=0.50;AN=2;BaseQRankSum=3.863;DB;DP=40;Dels=0.0;FS=2.896;HRun=0;HaplotypeScore=0.0;MQ=26.63;MQ0=6;MQRankSum=-1.099;QD=12.5;ReadPosRankSum=1.347;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MMP23B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356026 GT:AD:DP:GQ:PL 0/1:17,23:40:99:530,0,297
1 1574076 rs9442413 G A 144.94 MQFilter40 AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.954;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=34.42;MQ0=0;MQRankSum=1.2;QD=11.15;ReadPosRankSum=1.093;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MMP23B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356026 GT:AD:DP:GQ:PL 0/1:6,7:13:99:175,0,173
1 1575616 rs80012316 T C 253.26 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=21.9;MQ0=3;QD=15.83;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MMP23B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000490017 GT:AD:DP:GQ:PL 1/1:0,16:16:30.03:286,30,0
1 1575836 rs72468213 C G 880.21 MQFilter40 AB=0.595;AC=1;AF=0.50;AN=2;BaseQRankSum=5.624;DB;DP=121;Dels=0.0;FS=1.991;HRun=1;HaplotypeScore=0.0;MQ=27.23;MQ0=7;MQRankSum=-1.162;QD=7.27;ReadPosRankSum=1.203;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AL691432.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317673 GT:AD:DP:GQ:PL 0/1:72,49:121:99:910,0,1229
1 1576636 rs3765908 G A 42.11 MQFilter40 AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.988;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8941;MQ=35.06;MQ0=0;MQRankSum=0.406;QD=7.02;ReadPosRankSum=1.537;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AL691432.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317673 GT:AD:DP:GQ:PL 0/1:3,3:6:72.11:72,0,101
1 1580738 rs149767621 T A 540.10 MQFilter40 AB=0.491;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.352;DB;DP=53;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=30.61;MQ0=3;MQRankSum=0.07;QD=10.19;ReadPosRankSum=0.831;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AL691432.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317673 GT:AD:DP:GQ:PL 0/1:26,27:53:99:570,0,491
1 1581096 rs145723946 C T 2788.42 MQFilter40 AB=0.508;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.802;DB;DP=250;DS;Dels=0.0;FS=3.333;HRun=2;HaplotypeScore=6.0759;MQ=37.82;MQ0=4;MQRankSum=0.759;QD=11.15;ReadPosRankSum=0.826;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AL691432.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317673 GT:AD:DP:GQ:PL 0/1:127,123:250:99:2818,0,2850
1 1581558 rs117719933 C T 501.94 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=23.05;MQ0=6;QD=19.31;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AL691432.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317673 GT:AD:DP:GQ:PL 1/1:0,26:26:48.13:535,48,0
1 1581713 rs76922129 A C 908.80 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=49.65;MQ0=4;QD=27.54;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AL691432.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317673 GT:AD:DP:GQ:PL 1/1:0,26:33:75.22:942,75,0
1 1581759 rs61774915 G A 210.01 PASS AB=0.672;AC=1;AF=0.50;AN=2;BaseQRankSum=3.025;DB;DP=67;Dels=0.0;FS=10.144;HRun=0;HaplotypeScore=2.9329;MQ=48.84;MQ0=6;MQRankSum=-5.747;QD=3.13;ReadPosRankSum=1.287;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AL691432.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317673 GT:AD:DP:GQ:PL 0/1:45,22:67:99:240,0,1353
1 1581926 rs61774917 G T 418.55 PASS AB=0.56;AC=1;AF=0.50;AN=2;BaseQRankSum=1.872;DB;DP=50;Dels=0.0;FS=1.66;HRun=2;HaplotypeScore=0.0;MQ=47.54;MQ0=2;MQRankSum=-3.858;QD=8.37;ReadPosRankSum=-0.387;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AL691432.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317673 GT:AD:DP:GQ:PL 0/1:28,22:50:99:449,0,952
1 1582106 rs79942991 T C 2477.26 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=108;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=30.66;MQ0=14;QD=22.73;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AL691432.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317673 GT:AD:DP:GQ:PL 1/1:0,108:108:99:2510,222,0
1 1582202 rs61774918 C T 1403.03 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.459;DB;DP=135;Dels=0.0;FS=1.454;HRun=0;HaplotypeScore=0.9894;MQ=43.51;MQ0=5;MQRankSum=0.04;QD=10.39;ReadPosRankSum=-0.253;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AL691432.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317673 GT:AD:DP:GQ:PL 0/1:76,59:135:99:1433,0,2061
1 1585597 rs7531938 A G 267.56 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.32;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AL691432.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317673 GT:AD:DP:GQ:PL 1/1:0,11:11:21.07:300,21,0
1 1585642 rs3936009 G T 247.27 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.32;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AL691432.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317673 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:280,21,0
1 1586752 rs11486023 T C 1491.50 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.72;MQ0=0;QD=33.9;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AL691432.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317673 GT:AD:DP:GQ:PL 1/1:0,44:44:99:1524,114,0
1 1588670 rs61774958 G A 771.66 PASS AB=0.716;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.634;DB;DP=170;Dels=0.0;FS=2.963;HRun=0;HaplotypeScore=1.8665;MQ=49.71;MQ0=7;MQRankSum=-5.929;QD=4.54;ReadPosRankSum=3.088;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC35E2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234800 GT:AD:DP:GQ:PL 0/1:121,48:170:99:802,0,3913
1 1588717 rs61774959 G A 416.06 PASS AB=0.798;AC=1;AF=0.50;AN=2;BaseQRankSum=0.163;DB;DP=208;Dels=0.0;FS=5.992;HRun=0;HaplotypeScore=1.3123;MQ=46.15;MQ0=12;MQRankSum=-4.927;QD=2.0;ReadPosRankSum=-4.445;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC35E2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234800 GT:AD:DP:GQ:PL 0/1:166,42:208:99:446,0,5088
1 1588744 rs79724854 AGCG A 337.74 QDFilter2 AB=0.916;AC=1;AF=0.50;AN=2;BaseQRankSum=6.958;DB;DP=188;FS=52.439;HRun=0;HaplotypeScore=843.6636;IndelType=D;MQ=46.88;MQ0=7;MQRankSum=-5.455;QD=1.71;ReadPosRankSum=1.487;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC35E2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234800 GT:AD:DP:GQ:PL 0/1:179,18:188:99:377,0,11904
1 1599812 rs12729295 C T 658.30 MQFilter40 AB=0.59;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.308;DB;DP=122;Dels=0.0;FS=5.036;HRun=0;HaplotypeScore=0.0;MQ=21.46;MQ0=42;MQRankSum=2.784;QD=5.4;ReadPosRankSum=1.039;SNPEFF_AMINO_ACID_CHANGE=V312I;SNPEFF_CODON_CHANGE=Gtc/Atc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_1599766_1599911;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC35E2B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000234800 GT:AD:DP:GQ:PL 0/1:72,50:122:99:688,0,801
1 1599888 rs2072923 A G 1436.14 MQFilter40 AB=0.573;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.133;DB;DP=157;Dels=0.0;FS=42.0;HRun=0;HaplotypeScore=2.3294;MQ=29.62;MQ0=24;MQRankSum=6.988;QD=9.15;ReadPosRankSum=-1.705;SNPEFF_AMINO_ACID_CHANGE=S286;SNPEFF_CODON_CHANGE=agT/agC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_1599766_1599911;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC35E2B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000234800 GT:AD:DP:GQ:PL 0/1:90,67:157:99:1466,0,1446
1 1599940 rs61776767 C T 210.15 MQFilter40;QDFilter2 AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=3.65;DB;DP=126;Dels=0.0;FS=1.112;HRun=1;HaplotypeScore=3.5507;MQ=31.68;MQ0=31;MQRankSum=-6.974;QD=1.67;ReadPosRankSum=-0.756;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC35E2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481276 GT:AD:DP:GQ:PL 0/1:72,54:126:99:240,0,1982
1 1599974 rs113499489 A C 225.30 MQFilter40 AB=0.65;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.032;DB;DP=104;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=37.63;MQ0=12;MQRankSum=-5.444;QD=2.17;ReadPosRankSum=1.419;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC35E2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481276 GT:AD:DP:GQ:PL 0/1:67,36:104:99:255,0,2168
1 1600051 . C G 79.45 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=3.412;DP=30;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.8938;MQ=42.07;MQ0=3;MQRankSum=-3.004;QD=2.65;ReadPosRankSum=0.437;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC35E2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481276 GT:AD:DP:GQ:PL 0/1:21,9:30:99:109,0,620
1 1600061 . G A 54.81 PASS AB=0.739;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.553;DP=23;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=41.65;MQ0=2;MQRankSum=-1.567;QD=2.38;ReadPosRankSum=1.926;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC35E2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481276 GT:AD:DP:GQ:PL 0/1:17,6:23:84.81:85,0,614
1 1600091 rs142755543 TTG T 136.38 PASS AB=0.737;AC=1;AF=0.50;AN=2;BaseQRankSum=2.933;DB;DP=14;FS=0.0;HRun=0;HaplotypeScore=84.3696;IndelType=D;MQ=44.79;MQ0=0;MQRankSum=-1.333;QD=9.74;ReadPosRankSum=-0.4;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC35E2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481276 GT:AD:DP:GQ:PL 0/1:9,5:14:99:175,0,393
1 1602787 rs4639697 G T 52.75 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC35E2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234800 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
1 1608229 rs143080014 C T 958.26 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=27.99;MQ0=4;QD=22.82;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_1_1607817_1608285;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC35E2B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000234800 GT:AD:DP:GQ:PL 1/1:1,41:42:93.15:991,93,0
1 1608394 rs146877222 C T 180.44 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=16.11;MQ0=6;QD=8.59;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC35E2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234800 GT:AD:DP:GQ:PL 1/1:3,18:21:24.01:213,24,0
1 1635004 rs874516 T C 813.09 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=41.07;MQ0=0;QD=27.1;SNPEFF_AMINO_ACID_CHANGE=K44;SNPEFF_CODON_CHANGE=aaA/aaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_1634915_1635008;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000341028 GT:AD:DP:GQ:PL 1/1:0,30:30:69.19:846,69,0
1 1635619 rs2076329 T C 249.47 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=52.81;MQ0=0;QD=22.68;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378635 GT:AD:DP:GQ:PL 1/1:0,11:11:21.07:282,21,0
1 1635749 rs55880629 C A 619.08 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=42.11;MQ0=1;QD=28.14;SNPEFF_AMINO_ACID_CHANGE=R499;SNPEFF_CODON_CHANGE=cgG/cgT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_1635662_1635783;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000356200 GT:AD:DP:GQ:PL 1/1:0,22:22:54.16:652,54,0
1 1636044 rs1059822 G A 941.10 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=36.73;MQ0=1;QD=28.52;SNPEFF_AMINO_ACID_CHANGE=Y469;SNPEFF_CODON_CHANGE=taC/taT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_1635989_1636094;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000356200 GT:AD:DP:GQ:PL 1/1:0,32:32:84.24:974,84,0
1 1636274 rs2179381 C T 982.87 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.796;DB;DP=44;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.8808;MQ=42.71;MQ0=5;MQRankSum=0.669;QD=22.34;ReadPosRankSum=0.478;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378635 GT:AD:DP:GQ:PL 1/1:2,42:44:53.22:1016,53,0
1 1636355 rs2377226 A G 202.72 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.168;DB;DP=90;Dels=0.0;FS=6.347;HRun=0;HaplotypeScore=0.0;MQ=42.1;MQ0=15;MQRankSum=-6.696;QD=2.25;ReadPosRankSum=1.186;SNPEFF_AMINO_ACID_CHANGE=I448;SNPEFF_CODON_CHANGE=atT/atC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_1636343_1636464;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000356200 GT:AD:DP:GQ:PL 0/1:54,36:90:99:233,0,1766
1 1639046 rs138369165 C G 226.87 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=16.77;MQ0=14;QD=8.4;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341028 GT:AD:DP:GQ:PL 1/1:2,25:27:24.05:260,24,0
1 1639062 rs149613000 T C 101.24 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=16.09;MQ0=9;QD=7.79;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341028 GT:AD:DP:GQ:PL 1/1:0,13:13:12.03:134,12,0
1 1639801 rs74378830 T C 33.40 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=23.0;MQ0=3;QD=6.68;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341028 GT:AD:DP:GQ:PL 1/1:0,5:5:6.01:65,6,0
1 1644908 rs2179383 C T 65.51 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=22.64;MQ0=3;QD=10.92;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479362 GT:AD:DP:GQ:PL 1/1:0,6:6:9.02:98,9,0
1 1645050 rs77869096 C T 39.17 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=16.2;MQ0=6;QD=4.35;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479362 GT:AD:DP:GQ:PL 1/1:0,9:9:6.02:70,6,0
1 1645093 rs80318714 C T 35.63 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=16.74;MQ0=4;QD=5.94;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479362 GT:AD:DP:GQ:PL 1/1:0,6:6:6.02:67,6,0
1 1645115 rs78711691 C T 35.63 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=15.5;MQ0=5;QD=5.09;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479362 GT:AD:DP:GQ:PL 1/1:0,7:7:6.02:67,6,0
1 1647649 rs70937179 C CT 1206.15 PASS AC=2;AF=1.00;AN=2;DB;DP=26;FS=0.0;HRun=0;HaplotypeScore=130.5973;IndelType=I;MQ=50.97;MQ0=1;QD=44.67;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479362 GT:AD:DP:GQ:PL 1/1:1,26:26:78.27:1248,78,0
1 1647686 rs909823 A C 1533.63 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.12;MQ0=0;QD=33.34;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479362 GT:AD:DP:GQ:PL 1/1:0,46:46:99:1567,120,0
1 1647722 rs114460890 G T 136.15 QDFilter2 AB=0.724;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.423;DB;DP=87;Dels=0.0;FS=15.159;HRun=2;HaplotypeScore=1.4942;MQ=51.0;MQ0=0;MQRankSum=-7.023;QD=1.55;ReadPosRankSum=-1.125;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479362 GT:AD:DP:GQ:PL 0/1:63,24:87:99:166,0,2152
1 1647745 rs72634830 G A 567.98 PASS AB=0.658;AC=1;AF=0.50;AN=2;BaseQRankSum=4.131;DB;DP=117;Dels=0.0;FS=6.244;HRun=0;HaplotypeScore=2.7156;MQ=50.28;MQ0=0;MQRankSum=-7.842;QD=4.85;ReadPosRankSum=-2.71;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479362 GT:AD:DP:GQ:PL 0/1:77,40:117:99:598,0,2171
1 1647753 rs74045984 C T 866.38 PASS AB=0.638;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.072;DB;DP=138;Dels=0.0;FS=6.21;HRun=3;HaplotypeScore=3.294;MQ=50.7;MQ0=0;MQRankSum=-7.741;QD=6.28;ReadPosRankSum=-2.952;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479362 GT:AD:DP:GQ:PL 0/1:88,50:138:99:896,0,2711
1 1647778 rs72901773 C G 1239.88 PASS AB=0.631;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.781;DB;DP=168;Dels=0.0;FS=4.968;HRun=0;HaplotypeScore=2.133;MQ=50.74;MQ0=0;MQRankSum=-8.766;QD=7.38;ReadPosRankSum=-0.794;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479362 GT:AD:DP:GQ:PL 0/1:106,62:168:99:1270,0,3251
1 1647814 rs72901775 T C 2076.40 PASS AB=0.589;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.475;DB;DP=207;Dels=0.0;FS=3.266;HRun=0;HaplotypeScore=0.0;MQ=50.68;MQ0=0;MQRankSum=-9.876;QD=10.03;ReadPosRankSum=2.386;SNPEFF_AMINO_ACID_CHANGE=N9D;SNPEFF_CODON_CHANGE=Aat/Gat;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_1647785_1647917;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000341028 GT:AD:DP:GQ:PL 0/1:122,85:207:99:2106,0,3631
1 1647871 rs72909014 T C 931.79 PASS AB=0.673;AC=1;AF=0.50;AN=2;BaseQRankSum=1.411;DB;DP=147;Dels=0.0;FS=3.247;HRun=1;HaplotypeScore=4.4943;MQ=52.21;MQ0=0;MQRankSum=-8.078;QD=6.34;ReadPosRankSum=-2.311;SNPEFF_AMINO_ACID_CHANGE=R100;SNPEFF_CODON_CHANGE=cgA/cgG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_1647785_1647917;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000356200 GT:AD:DP:GQ:PL 0/1:99,48:147:99:962,0,3216
1 1647893 . C CTTTCTT 2514.08 PASS AB=0.867;AC=1;AF=0.50;AN=2;BaseQRankSum=5.286;DP=130;FS=33.408;HRun=0;HaplotypeScore=857.6175;IndelType=I;MQ=52.89;MQ0=0;MQRankSum=-7.416;QD=19.34;ReadPosRankSum=-1.902;SNPEFF_AMINO_ACID_CHANGE=-117KK;SNPEFF_CODON_CHANGE=-/AAGAAA;SNPEFF_EFFECT=CODON_INSERTION;SNPEFF_EXON_ID=exon_1_1647785_1647917;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000357760 GT:AD:DP:GQ:PL 0/1:110,17:130:99:2553,0,5308
1 1647968 . C CAT 818.60 PASS AB=0.786;AC=1;AF=0.50;AN=2;BaseQRankSum=6.194;DP=66;FS=3.717;HRun=0;HaplotypeScore=468.7992;IndelType=I;MQ=52.65;MQ0=0;MQRankSum=-6.209;QD=12.4;ReadPosRankSum=0.667;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000496482 GT:AD:DP:GQ:PL 0/1:48,18:66:99:858,0,2027
1 1647971 rs77394327 G A 133.09 PASS AB=0.719;AC=1;AF=0.50;AN=2;BaseQRankSum=0.86;DB;DP=64;Dels=0.0;FS=3.759;HRun=1;HaplotypeScore=0.6651;MQ=52.4;MQ0=0;MQRankSum=-6.169;QD=2.08;ReadPosRankSum=-0.236;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000496482 GT:AD:DP:GQ:PL 0/1:46,18:64:99:163,0,1652
1 1647983 rs74429813 T A 168.01 PASS AB=0.766;AC=1;AF=0.50;AN=2;BaseQRankSum=0.515;DB;DP=48;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.4972;MQ=52.96;MQ0=0;MQRankSum=-4.988;QD=3.5;ReadPosRankSum=-0.013;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000496482 GT:AD:DP:GQ:PL 0/1:36,11:48:99:198,0,1270
1 1647990 rs76519969 C T 183.20 PASS AB=0.756;AC=1;AF=0.50;AN=2;BaseQRankSum=3.187;DB;DP=45;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=51.19;MQ0=1;MQRankSum=-4.913;QD=4.07;ReadPosRankSum=-1.183;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000496482 GT:AD:DP:GQ:PL 0/1:34,11:45:99:213,0,918
1 1648002 rs77107184 C T 98.88 PASS AB=0.811;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.33;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9973;MQ=52.03;MQ0=1;MQRankSum=-4.021;QD=2.67;ReadPosRankSum=-1.134;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000496482 GT:AD:DP:GQ:PL 0/1:30,7:37:99:129,0,995
1 1648018 rs79409185 C T 34.56 QDFilter2 AB=0.852;AC=1;AF=0.50;AN=2;BaseQRankSum=2.409;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=50.19;MQ0=1;MQRankSum=-3.15;QD=1.23;ReadPosRankSum=-0.556;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000496482 GT:AD:DP:GQ:PL 0/1:23,4:28:64.55:65,0,597
1 1648027 rs61776857 T C 597.66 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=48.47;MQ0=1;QD=27.17;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000496482 GT:AD:DP:GQ:PL 1/1:0,22:22:57.13:631,57,0
1 1650619 rs74763557 C A 102.88 QDFilter2 AB=0.709;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.437;DB;DP=55;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.74;MQ0=0;MQRankSum=-4.957;QD=1.87;ReadPosRankSum=-2.659;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401096 GT:AD:DP:GQ:PL 0/1:39,16:55:99:133,0,1432
1 1650657 rs72909028 C G 643.87 PASS AB=0.614;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.161;DB;DP=88;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.6545;MQ=53.6;MQ0=0;MQRankSum=-5.395;QD=7.32;ReadPosRankSum=-0.776;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401096 GT:AD:DP:GQ:PL 0/1:54,34:88:99:674,0,1958
1 1650787 rs1137003 T C 2527.05 PASS AB=0.578;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.714;DB;DP=244;DS;Dels=0.0;FS=0.492;HRun=0;HaplotypeScore=8.0444;MQ=55.88;MQ0=0;MQRankSum=-1.003;QD=10.36;ReadPosRankSum=0.106;SNPEFF_AMINO_ACID_CHANGE=H112R;SNPEFF_CODON_CHANGE=cAt/cGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_1650767_1650894;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000404249 GT:AD:DP:GQ:PL 0/1:141,103:244:99:2557,0,4503
1 1650797 rs1059830 A G 2277.93 SnpCluster AB=0.602;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.501;DB;DP=241;DS;Dels=0.0;FS=1.061;HRun=0;HaplotypeScore=6.2245;MQ=56.05;MQ0=0;MQRankSum=-1.209;QD=9.45;ReadPosRankSum=-0.337;SNPEFF_AMINO_ACID_CHANGE=W109R;SNPEFF_CODON_CHANGE=Tgg/Cgg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_1650797_1650894;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000357760 GT:AD:DP:GQ:PL 0/1:145,96:241:99:2308,0,4711
1 1650801 rs1137004 T C 1974.46 SnpCluster AB=0.617;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.155;DB;DP=230;DS;Dels=0.0;FS=3.91;HRun=0;HaplotypeScore=7.2179;MQ=55.77;MQ0=0;MQRankSum=-1.295;QD=8.58;ReadPosRankSum=-0.054;SNPEFF_AMINO_ACID_CHANGE=E107;SNPEFF_CODON_CHANGE=gaA/gaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_1650797_1650894;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000357760 GT:AD:DP:GQ:PL 0/1:142,88:230:99:2004,0,4855
1 1650807 rs1137005 T C 3855.58 SnpCluster AB=0.396;AC=1;AF=0.50;AN=2;BaseQRankSum=5.786;DB;DP=235;DS;Dels=0.0;FS=7.709;HRun=1;HaplotypeScore=5.5028;MQ=55.65;MQ0=0;MQRankSum=6.262;QD=16.41;ReadPosRankSum=0.629;SNPEFF_AMINO_ACID_CHANGE=R105;SNPEFF_CODON_CHANGE=agA/agG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_1650797_1650894;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000357760 GT:AD:DP:GQ:PL 0/1:93,142:235:99:3856,0,2569
1 1650832 rs72909030 A G 2866.63 PASS AB=0.576;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.17;DB;DP=250;DS;Dels=0.0;FS=7.091;HRun=0;HaplotypeScore=4.8969;MQ=55.23;MQ0=0;MQRankSum=-4.011;QD=11.47;ReadPosRankSum=-2.071;SNPEFF_AMINO_ACID_CHANGE=V63A;SNPEFF_CODON_CHANGE=gTt/gCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_1650767_1650894;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000356200 GT:AD:DP:GQ:PL 0/1:144,106:250:99:2897,0,4552
1 1650845 rs1059831 G A 4642.98 PASS AB=0.412;AC=1;AF=0.50;AN=2;BaseQRankSum=2.509;DB;DP=250;DS;Dels=0.0;FS=6.097;HRun=1;HaplotypeScore=1.5782;MQ=55.41;MQ0=0;MQRankSum=5.261;QD=18.57;ReadPosRankSum=0.165;SNPEFF_AMINO_ACID_CHANGE=R59W;SNPEFF_CODON_CHANGE=Cgg/Tgg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_1650767_1650894;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000356200 GT:AD:DP:GQ:PL 0/1:103,147:250:99:4643,0,2854
1 1650920 rs36191908 G A 1023.39 PASS AB=0.66;AC=1;AF=0.50;AN=2;BaseQRankSum=2.467;DB;DP=194;DS;Dels=0.0;FS=3.348;HRun=0;HaplotypeScore=3.4599;MQ=51.73;MQ0=0;MQRankSum=-7.305;QD=5.28;ReadPosRankSum=-3.348;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401096 GT:AD:DP:GQ:PL 0/1:128,66:194:99:1053,0,3890
1 1650960 rs72634834 G A 813.26 PASS AB=0.601;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.415;DB;DP=178;DS;Dels=0.0;FS=22.081;HRun=1;HaplotypeScore=0.5784;MQ=50.52;MQ0=0;MQRankSum=-7.759;QD=4.57;ReadPosRankSum=-0.714;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401096 GT:AD:DP:GQ:PL 0/1:107,71:178:99:843,0,3581
1 1650967 rs75384210 T C 768.76 PASS AB=0.594;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.928;DB;DP=161;DS;Dels=0.0;FS=26.695;HRun=0;HaplotypeScore=0.0;MQ=50.57;MQ0=0;MQRankSum=-7.927;QD=4.75;ReadPosRankSum=-0.639;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401096 GT:AD:DP:GQ:PL 0/1:95,65:161:99:799,0,3286
1 1650996 rs74223875 T C 869.37 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=3.571;DB;DP=103;Dels=0.0;FS=5.812;HRun=0;HaplotypeScore=0.9469;MQ=50.5;MQ0=0;MQRankSum=-4.785;QD=8.44;ReadPosRankSum=1.308;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401096 GT:AD:DP:GQ:PL 0/1:56,42:103:99:899,0,1801
1 1651003 rs76941027 G A 793.75 PASS AB=0.557;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.286;DB;DP=90;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=3.8631;MQ=49.28;MQ0=0;MQRankSum=-4.41;QD=8.82;ReadPosRankSum=0.372;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401096 GT:AD:DP:GQ:PL 0/1:49,39:90:99:824,0,1480
1 1651047 rs72909034 C T 460.74 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=1.318;DB;DP=45;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=10.6316;MQ=44.51;MQ0=0;MQRankSum=-2.007;QD=10.24;ReadPosRankSum=0.994;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401096 GT:AD:DP:GQ:PL 0/1:25,20:45:99:491,0,324
1 1651062 . T TC 92.49 PASS AB=0.833;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.311;DP=25;FS=0.0;HRun=0;HaplotypeScore=597.6955;IndelType=I;MQ=30.48;MQ0=0;MQRankSum=-1.217;QD=3.7;ReadPosRankSum=3.765;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401096 GT:AD:DP:GQ:PL 0/1:20,5:25:99:132,0,477
1 1651065 . T TTTTTC 314.51 PASS AB=0.833;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.263;DP=25;FS=0.0;HRun=0;HaplotypeScore=603.2845;IndelType=I;MQ=30.48;MQ0=0;MQRankSum=-0.146;QD=12.58;ReadPosRankSum=2.254;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401096 GT:AD:DP:GQ:PL 0/1:20,5:25:99:354,0,356
1 1651076 rs34673677 ACGGAGT A 509.89 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.177;DB;DP=16;FS=0.0;HRun=0;HaplotypeScore=429.8453;IndelType=D;MQ=31.29;MQ0=0;MQRankSum=-0.386;QD=31.87;ReadPosRankSum=-0.965;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401096 GT:AD:DP:GQ:PL 0/1:8,8:16:99:549,0,193
1 1651077 rs70937183 CGG C 323.42 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.504;DB;DP=15;FS=0.0;HRun=2;HaplotypeScore=425.8032;IndelType=D;MQ=31.43;MQ0=0;MQRankSum=-1.736;QD=21.56;ReadPosRankSum=1.504;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401096 GT:AD:DP:GQ:PL 1/1:9,6:15:18.34:365,18,0
1 1651093 . C T 49.39 MQFilter40;SnpCluster AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=1.733;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=34.58;MQ0=0;MQRankSum=-1.333;QD=3.53;ReadPosRankSum=2.533;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401096 GT:AD:DP:GQ:PL 0/1:9,5:14:79.39:79,0,167
1 1651094 . A G 75.03 MQFilter40;SnpCluster AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=1.067;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=34.58;MQ0=0;MQRankSum=-0.667;QD=5.36;ReadPosRankSum=2.533;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401096 GT:AD:DP:GQ:PL 0/1:9,5:14:99:105,0,179
1 1651098 . A G 64.92 MQFilter40;SnpCluster AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=0.271;DP=13;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=34.97;MQ0=0;MQRankSum=-0.271;QD=4.99;ReadPosRankSum=1.855;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401096 GT:AD:DP:GQ:PL 0/1:8,5:13:94.91:95,0,157
1 1651103 rs36153776 G A 70.30 MQFilter40;SnpCluster AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.268;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.8995;MQ=36.57;MQ0=0;MQRankSum=-0.47;QD=7.03;ReadPosRankSum=1.098;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401096 GT:AD:DP:GQ:PL 0/1:5,5:10:99:100,0,156
1 1651104 . G T 69.32 MQFilter40;SnpCluster AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.268;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.866;MQ=36.57;MQ0=0;MQRankSum=-1.668;QD=6.93;ReadPosRankSum=0.851;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401096 GT:AD:DP:GQ:PL 0/1:5,5:10:99:99,0,153
1 1653004 rs36039898 T C 2033.84 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.3135;MQ=47.88;MQ0=1;QD=29.91;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401096 GT:AD:DP:GQ:PL 1/1:0,67:68:99:2067,162,0
1 1653028 rs16825265 C T 2608.41 PASS AC=2;AF=1.00;AN=2;DB;DP=83;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=49.76;MQ0=1;QD=31.43;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401096 GT:AD:DP:GQ:PL 1/1:0,83:83:99:2641,199,0
1 1653303 rs35548050 T C 550.77 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=49.37;MQ0=0;QD=32.4;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401096 GT:AD:DP:GQ:PL 1/1:0,17:17:45.14:584,45,0
1 1653332 rs34272957 GT G 342.87 PASS AC=2;AF=1.00;AN=2;DB;DP=10;FS=0.0;HRun=2;HaplotypeScore=90.7491;IndelType=D;MQ=45.49;MQ0=0;QD=34.29;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401096 GT:AD:DP:GQ:PL 1/1:0,10:10:30.10:385,30,0
1 1653361 rs2206307 C T 195.89 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=48.95;MQ0=0;QD=32.65;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401096 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:229,18,0
1 1653414 rs2206308 C T 49.41 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.44;MQ0=0;QD=16.47;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401096 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:81,6,0
1 1653885 rs61777493 C A 314.53 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=36.21;MQ0=4;QD=20.97;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401096 GT:AD:DP:GQ:PL 1/1:1,14:15:30.09:348,30,0
1 1654013 rs74045997 C G 292.59 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=26.44;MQ0=5;QD=8.61;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401096 GT:AD:DP:GQ:PL 1/1:0,34:34:30.07:326,30,0
1 1654038 rs61777494 G A 635.67 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=25.53;MQ0=10;QD=12.46;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401096 GT:AD:DP:GQ:PL 1/1:6,45:51:60.17:669,60,0
1 1654058 rs61777495 C T 851.82 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=28.22;MQ0=9;QD=14.69;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_1_1654027_1654270;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000356200 GT:AD:DP:GQ:PL 1/1:6,52:58:78.22:885,78,0
1 1654064 . A T 128.78 MQFilter40 AC=2;AF=1.00;AN=2;DP=59;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=33.28;MQ0=9;QD=2.18;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401096 GT:AD:DP:GQ:PL 1/1:6,53:59:20.92:162,21,0
1 1654065 rs35174499 AGCG A 2501.36 PASS AC=2;AF=1.00;AN=2;DB;DP=50;FS=0.0;HRun=0;HaplotypeScore=741.5546;IndelType=D;MQ=33.65;MQ0=9;QD=41.01;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDK11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401096 GT:AD:DP:GQ:PL 1/1:6,55:50:99:2543,150,0
1 1663831 rs3817856 C T 92.72 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC35E2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355439 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:125,9,0
1 1664019 rs2294488 T C 72.61 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.2;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC35E2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000246421 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:105,9,0
1 1666175 rs61777509 C T 372.94 MQFilter40 AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.668;DB;DP=80;Dels=0.0;FS=4.993;HRun=0;HaplotypeScore=1.8499;MQ=14.25;MQ0=44;MQRankSum=0.441;QD=4.66;ReadPosRankSum=-1.743;SNPEFF_AMINO_ACID_CHANGE=R229H;SNPEFF_CODON_CHANGE=cGt/cAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_1666129_1666274;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC35E2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000246421 GT:AD:DP:GQ:PL 0/1:40,40:80:77.07:403,0,77
1 1666251 rs77655487 G A 68.92 MQFilter40;QDFilter2 AB=0.694;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.506;DB;DP=62;Dels=0.0;FS=37.08;HRun=0;HaplotypeScore=0.0;MQ=19.75;MQ0=20;MQRankSum=2.396;QD=1.11;ReadPosRankSum=-2.497;SNPEFF_AMINO_ACID_CHANGE=R204W;SNPEFF_CODON_CHANGE=Cgg/Tgg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_1666129_1666274;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC35E2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000246421 GT:AD:DP:GQ:PL 0/1:43,19:62:98.91:99,0,737
1 1666338 rs2072924 G A 250.62 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9469;MQ=21.0;MQ0=7;QD=13.92;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC35E2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000246421 GT:AD:DP:GQ:PL 1/1:0,18:18:27.04:284,27,0
1 1666342 rs76084492 A G 203.05 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.8245;MQ=23.4;MQ0=5;QD=12.69;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC35E2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000246421 GT:AD:DP:GQ:PL 1/1:0,16:16:24.02:236,24,0
1 1669734 rs80140081 G T 1083.99 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=40.0;MQ0=0;QD=30.97;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC35E2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000246421 GT:AD:DP:GQ:PL 1/1:1,34:35:93.23:1117,93,0
1 1670570 rs150051592 T C 207.09 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=14.35;MQ0=13;QD=6.68;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC35E2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000246421 GT:AD:DP:GQ:PL 1/1:0,31:31:27.01:240,27,0
1 1685213 rs2072928 C G 51.75 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.87;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NADK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000400922 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:83,6,0
1 1686040 rs4751 G T 1356.14 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.14;SNPEFF_AMINO_ACID_CHANGE=N230K;SNPEFF_CODON_CHANGE=aaC/aaA;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_1685983_1686137;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NADK;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000342348 GT:AD:DP:GQ:PL 1/1:0,45:45:99:1389,102,0
1 1686943 rs2072929 T C 2027.69 PASS AC=2;AF=1.00;AN=2;DB;DP=75;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9469;MQ=59.07;MQ0=0;QD=27.04;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NADK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460602 GT:AD:DP:GQ:PL 1/1:0,75:75:99:2061,180,0
1 1686962 rs2076327 C T 1929.91 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=59.14;MQ0=0;QD=35.74;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NADK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460602 GT:AD:DP:GQ:PL 1/1:0,54:54:99:1963,156,0
1 1687625 rs34306661 T C 1006.60 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.28;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NADK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460602 GT:AD:DP:GQ:PL 1/1:0,27:27:78.25:1040,78,0
1 1687791 rs72634840 C T 613.36 PASS AB=0.609;AC=1;AF=0.50;AN=2;BaseQRankSum=0.674;DB;DP=64;Dels=0.0;FS=7.596;HRun=0;HaplotypeScore=0.0;MQ=59.71;MQ0=0;MQRankSum=1.555;QD=9.58;ReadPosRankSum=-1.362;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NADK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460602 GT:AD:DP:GQ:PL 0/1:39,25:64:99:643,0,1308
1 1688192 rs2281173 A G 377.06 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.05;MQ0=0;QD=31.42;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NADK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460602 GT:AD:DP:GQ:PL 1/1:0,12:12:33.09:410,33,0
1 1688469 rs4648623 C G 43.33 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.66;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NADK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464373 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:75,6,0
1 1688513 rs4648624 G T 231.30 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=53.03;MQ0=0;QD=33.04;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NADK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464373 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:264,21,0
1 1689762 rs2235537 T C 1137.16 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.49;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NADK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464373 GT:AD:DP:GQ:PL 1/1:0,35:35:87.28:1170,87,0
1 1690126 rs79655042 A AAC 288.26 PASS AC=2;AF=1.00;AN=2;DB;DP=6;FS=0.0;HRun=0;HaplotypeScore=21.1374;IndelType=I;MQ=56.04;MQ0=0;QD=48.04;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NADK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464373 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:330,18,0
1 1696659 rs75906779 A G 1456.61 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NADK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341426 GT:AD:DP:GQ:PL 1/1:0,43:43:99:1490,114,0
1 1853615 rs113294876 T TCTGA 606.50 PASS AC=2;AF=1.00;AN=2;DB;DP=8;FS=0.0;HRun=0;HaplotypeScore=24.7128;IndelType=I;MQ=53.95;MQ0=0;QD=75.81;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C1orf222;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000493964 GT:AD:DP:GQ:PL 1/1:1,7:8:24.08:649,24,0
1 1854321 rs2250833 A G 452.79 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.19;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C1orf222;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000493964 GT:AD:DP:GQ:PL 1/1:0,15:15:39.12:486,39,0
1 1859131 rs4648734 C T 419.85 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.2;MQ0=0;QD=32.3;SNPEFF_AMINO_ACID_CHANGE=V431I;SNPEFF_CODON_CHANGE=Gtt/Att;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_1859046_1859185;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C1orf222;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000493964 GT:AD:DP:GQ:PL 1/1:0,13:13:36.10:453,36,0
1 1886859 rs3795290 C T 342.38 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.66;MQ0=0;QD=34.24;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C1orf222;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461752 GT:AD:DP:GQ:PL 1/1:0,10:10:30.09:375,30,0
1 1887019 rs28548017 A G 2795.62 PASS AC=2;AF=1.00;AN=2;DB;DP=84;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=54.85;MQ0=0;QD=33.28;SNPEFF_AMINO_ACID_CHANGE=*763Q;SNPEFF_CODON_CHANGE=Tag/Cag;SNPEFF_EFFECT=STOP_LOST;SNPEFF_EXON_ID=exon_1_1884752_1887289;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C1orf222;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000270720 GT:AD:DP:GQ:PL 1/1:0,84:84:99:2829,220,0
1 1887091 rs139735565 CG C 1604.40 PASS AC=2;AF=1.00;AN=2;DB;DP=41;FS=0.0;HRun=1;HaplotypeScore=289.8654;IndelType=D;MQ=40.18;MQ0=0;QD=38.2;SNPEFF_EFFECT=FRAME_SHIFT;SNPEFF_EXON_ID=exon_1_1884752_1887289;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C1orf222;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000270720 GT:AD:DP:GQ:PL 1/1:7,35:41:99:1646,120,0
1 1887111 rs3838975 GC G 1695.72 PASS AC=2;AF=1.00;AN=2;DB;DP=46;FS=0.0;HRun=2;HaplotypeScore=259.2667;IndelType=D;MQ=42.1;MQ0=0;QD=36.86;SNPEFF_EFFECT=FRAME_SHIFT;SNPEFF_EXON_ID=exon_1_1884752_1887289;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C1orf222;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000270720 GT:AD:DP:GQ:PL 1/1:2,44:46:99:1738,135,0
1 1887245 rs28575980 G A 990.66 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.66;MQ0=0;QD=33.02;SNPEFF_AMINO_ACID_CHANGE=A134;SNPEFF_CODON_CHANGE=gcC/gcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_1887150_1887289;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C1orf222;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000461752 GT:AD:DP:GQ:PL 1/1:0,30:30:78.23:1024,78,0
1 1888193 rs3820011 C A 342.74 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.16;SNPEFF_AMINO_ACID_CHANGE=G628C;SNPEFF_CODON_CHANGE=Ggc/Tgc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_1888059_1888223;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C1orf222;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000270720 GT:AD:DP:GQ:PL 1/1:0,11:11:27.09:376,27,0
1 1888330 rs28535696 C T 128.92 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.23;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C1orf222;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270720 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:161,12,0
1 1888369 rs2803285 A G 91.60 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.53;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C1orf222;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270720 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:124,9,0
1 1891477 rs2748972 A G 209.47 PASS AB=0.273;AC=1;AF=0.50;AN=2;BaseQRankSum=1.666;DB;DP=11;Dels=0.0;FS=6.532;HRun=2;HaplotypeScore=0.0;MQ=58.29;MQ0=0;MQRankSum=0.762;QD=19.04;ReadPosRankSum=-1.179;SNPEFF_AMINO_ACID_CHANGE=S10P;SNPEFF_CODON_CHANGE=Tcc/Ccc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_1891403_1891504;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C1orf222;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000461752 GT:AD:DP:GQ:PL 0/1:3,8:11:50.04:239,0,50
1 1895177 rs7523728 C T 710.90 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.01;MQ0=0;QD=37.42;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C1orf222;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270720 GT:AD:DP:GQ:PL 1/1:0,19:19:54.18:744,54,0
1 1896440 rs16824585 G A 523.90 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.74;SNPEFF_AMINO_ACID_CHANGE=L488;SNPEFF_CODON_CHANGE=Ctg/Ttg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_1896327_1896500;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C1orf222;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000270720 GT:AD:DP:GQ:PL 1/1:0,16:16:42.13:557,42,0
1 1896553 rs28625839 C T 251.09 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.9;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C1orf222;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270720 GT:AD:DP:GQ:PL 1/1:0,9:9:21.07:284,21,0
1 1897591 rs4648599 C T 47.79 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.89;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C1orf222;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270720 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
1 1897753 rs4648600 C G 735.44 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.04;MQ0=0;QD=24.51;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C1orf222;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270720 GT:AD:DP:GQ:PL 1/1:0,30:30:60.19:768,60,0
1 1898045 rs28712827 G A 209.76 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.97;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C1orf222;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270720 GT:AD:DP:GQ:PL 1/1:0,7:7:18.06:243,18,0
1 1899861 rs4648601 C T 118.06 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.51;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C1orf222;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270720 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:151,12,0
1 1900024 rs56985589 TG T 1242.65 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.368;DB;DP=33;FS=0.0;HRun=1;HaplotypeScore=91.2799;IndelType=D;MQ=50.96;MQ0=0;MQRankSum=-1.418;QD=37.66;ReadPosRankSum=-0.053;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C1orf222;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270720 GT:AD:DP:GQ:PL 1/1:2,31:33:51.32:1285,51,0
1 1900106 . T TCTC 3945.50 PASS AC=2;AF=1.00;AN=2;DP=59;FS=0.0;HRun=0;HaplotypeScore=196.3779;IndelType=I;MQ=51.69;MQ0=0;QD=66.87;SNPEFF_AMINO_ACID_CHANGE=K404KR;SNPEFF_CODON_CHANGE=aag/aaGAGg;SNPEFF_EFFECT=CODON_INSERTION;SNPEFF_EXON_ID=exon_1_1900074_1900272;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C1orf222;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000270720 GT:AD:DP:GQ:PL 1/1:6,53:59:99:3946,172,0
1 1900232 rs16824588 T C 1515.70 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.098;DB;DP=55;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.5777;MQ=53.36;MQ0=0;MQRankSum=-0.229;QD=27.56;ReadPosRankSum=1.667;SNPEFF_AMINO_ACID_CHANGE=I363V;SNPEFF_CODON_CHANGE=Atc/Gtc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_1900074_1900272;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C1orf222;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000270720 GT:AD:DP:GQ:PL 1/1:1,54:55:98.39:1549,98,0
1 1900332 rs55709963 A G 529.55 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=49.64;MQ0=0;QD=31.15;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C1orf222;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270720 GT:AD:DP:GQ:PL 1/1:0,17:17:45.14:563,45,0
1 1900339 rs56126097 A G 419.59 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=48.09;MQ0=0;QD=27.97;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C1orf222;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270720 GT:AD:DP:GQ:PL 1/1:0,15:15:36.11:453,36,0
1 1900375 rs55676322 G A 35.63 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=29.0;MQ0=0;QD=8.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C1orf222;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270720 GT:AD:DP:GQ:PL 1/1:0,4:4:6.02:67,6,0
1 1900376 rs148154906 C T 35.63 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=29.0;MQ0=0;QD=8.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C1orf222;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270720 GT:AD:DP:GQ:PL 1/1:0,4:4:6.02:67,6,0
1 1900445 rs61776965 C T 40.77 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=39.12;MQ0=0;QD=10.19;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C1orf222;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270720 GT:AD:DP:GQ:PL 1/1:0,4:4:6.02:72,6,0
1 1900454 rs6681749 A G 64.32 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=39.12;MQ0=0;QD=16.08;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C1orf222;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270720 GT:AD:DP:GQ:PL 1/1:0,4:4:9.02:96,9,0
1 1903303 rs4648603 C T 151.02 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.21;MQ0=0;QD=30.2;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C1orf222;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270720 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:184,15,0
1 1903712 rs13303201 C A 130.19 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C1orf222;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270720 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:163,12,0
1 1905306 rs56313717 C A 78.65 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.406;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.406;QD=13.11;ReadPosRankSum=0.406;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C1orf222;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270720 GT:AD:DP:GQ:PL 0/1:3,3:6:72.37:109,0,72
1 1916587 rs3795283 G T 89.85 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.95;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C1orf222;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378590 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:122,9,0
1 1916890 rs3795280 C T 1727.60 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.039;DB;DP=56;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9867;MQ=60.0;MQ0=0;MQRankSum=0.661;QD=30.85;ReadPosRankSum=0.094;SNPEFF_AMINO_ACID_CHANGE=L145;SNPEFF_CODON_CHANGE=ctG/ctA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_1916825_1916929;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C1orf222;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000270720 GT:AD:DP:GQ:PL 1/1:1,55:56:99:1761,101,0
1 1917058 rs34331632 A G 134.49 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.62;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C1orf222;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378590 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:167,12,0
1 1918191 rs4233028 A G 113.62 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.72;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C1orf222;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378590 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:146,12,0
1 1918488 rs4350140 A G 801.03 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=54.85;MQ0=0;QD=28.61;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C1orf222;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378590 GT:AD:DP:GQ:PL 1/1:0,28:28:63.19:834,63,0
1 1918535 rs4535948 A T 332.63 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.87;MQ0=0;QD=30.24;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C1orf222;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378590 GT:AD:DP:GQ:PL 1/1:0,11:11:27.09:366,27,0
1 1918584 rs4603072 C T 144.35 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.62;MQ0=0;QD=20.62;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C1orf222;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378590 GT:AD:DP:GQ:PL 1/1:0,7:7:15.03:177,15,0
1 1918595 rs4466593 G A 194.58 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.62;MQ0=0;QD=27.8;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C1orf222;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378590 GT:AD:DP:GQ:PL 1/1:0,7:7:18.06:227,18,0
1 1922303 rs13303195 C T 1121.85 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C1orf222;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270720 GT:AD:DP:GQ:PL 1/1:0,33:33:84.28:1155,84,0
1 1956362 rs2376805 G A 1149.79 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.84;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GABRD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378585 GT:AD:DP:GQ:PL 1/1:0,33:33:87.28:1183,87,0
1 1957037 rs2229110 T C 2203.04 PASS AC=2;AF=1.00;AN=2;DB;DP=76;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8667;MQ=57.84;MQ0=0;QD=28.99;SNPEFF_AMINO_ACID_CHANGE=G110;SNPEFF_CODON_CHANGE=ggT/ggC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_1956957_1957177;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GABRD;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000378585 GT:AD:DP:GQ:PL 1/1:0,76:76:99:2236,169,0
1 1957299 rs3820007 C T 119.65 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.21;MQ0=0;QD=23.93;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GABRD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378585 GT:AD:DP:GQ:PL 1/1:0,4:5:12.04:152,12,0
1 1960926 rs28581504 T C 296.26 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.63;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GABRD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378585 GT:AD:DP:GQ:PL 1/1:0,10:10:24.08:329,24,0
1 1987803 rs2803309 G A 89.01 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.67;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRKCZ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484419 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:121,9,0
1 1987993 rs12184 T C 319.53 PASS AB=0.381;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.643;DB;DP=21;Dels=0.0;FS=6.923;HRun=0;HaplotypeScore=0.0;MQ=56.62;MQ0=0;MQRankSum=0.181;QD=15.22;ReadPosRankSum=-0.398;SNPEFF_AMINO_ACID_CHANGE=D42;SNPEFF_CODON_CHANGE=gaT/gaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_1987923_1988012;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRKCZ;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000503297 GT:AD:DP:GQ:PL 0/1:8,13:21:99:350,0,220
1 1991014 rs1878745 A G 133.77 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.361;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.729;QD=13.38;ReadPosRankSum=0.361;SNPEFF_AMINO_ACID_CHANGE=P106;SNPEFF_CODON_CHANGE=ccA/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_1990980_1991030;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRKCZ;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000378567 GT:AD:DP:GQ:PL 0/1:5,5:10:99:164,0,138
1 2005740 rs2459986 T C 42.18 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9933;MQ=51.77;MQ0=0;QD=14.06;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRKCZ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479566 GT:AD:DP:GQ:PL 1/1:0,3:3:6.01:73,6,0
1 2077266 rs9442616 G A 34.81 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=11.6;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRKCZ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378567 GT:AD:DP:GQ:PL 0/1:1,2:3:31.62:65,0,32
1 2077409 rs385039 A G 313.98 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.435;DB;DP=24;Dels=0.0;FS=2.156;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.375;QD=13.08;ReadPosRankSum=0.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRKCZ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378567 GT:AD:DP:GQ:PL 0/1:12,12:24:99:344,0,385
1 2082458 rs262670 C T 56.54 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.248;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=57.39;MQ0=0;MQRankSum=-0.248;QD=6.28;ReadPosRankSum=0.248;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRKCZ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000419838 GT:AD:DP:GQ:PL 0/1:6,3:9:86.53:87,0,188
1 2082489 rs262669 G A 214.29 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.72;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRKCZ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000419838 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:247,18,0
1 2082505 rs9442619 C T 38.98 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=7.8;ReadPosRankSum=1.231;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRKCZ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000419838 GT:AD:DP:GQ:PL 0/1:3,2:5:68.98:69,0,71
1 2082566 rs2257182 T C 75.33 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.11;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRKCZ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000419838 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:107,9,0
1 2082602 rs262668 A G 52.75 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.37;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRKCZ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000419838 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
1 2087557 rs3123592 T C 762.22 PASS AB=0.422;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.261;DB;DP=45;Dels=0.0;FS=7.429;HRun=0;HaplotypeScore=0.8321;MQ=59.49;MQ0=0;MQRankSum=-1.256;QD=16.94;ReadPosRankSum=0.403;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRKCZ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000486681 GT:AD:DP:GQ:PL 0/1:19,26:45:99:792,0,577
1 2113565 rs262688 T G 667.02 PASS AB=0.421;AC=1;AF=0.50;AN=2;BaseQRankSum=1.67;DB;DP=38;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.133;QD=17.55;ReadPosRankSum=-1.73;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C1orf86;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000400918 GT:AD:DP:GQ:PL 0/1:16,22:38:99:697,0,540
1 2113776 . C T 597.20 PASS AB=0.593;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.467;DP=59;Dels=0.0;FS=2.381;HRun=0;HaplotypeScore=0.0;MQ=59.22;MQ0=0;MQRankSum=1.762;QD=10.12;ReadPosRankSum=0.467;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C1orf86;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000400918 GT:AD:DP:GQ:PL 0/1:35,24:59:99:627,0,1035
1 2117155 rs262687 G A 41.43 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.026;QD=10.36;ReadPosRankSum=1.026;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C1orf86;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378543 GT:AD:DP:GQ:PL 0/1:2,2:4:70.37:71,0,70
1 2118539 rs2503699 T C 351.98 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.33;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C1orf86;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378543 GT:AD:DP:GQ:PL 1/1:0,12:12:30.09:385,30,0
1 2118724 rs71578367 C CT 64.52 PASS AB=0.762;AC=1;AF=0.50;AN=2;BaseQRankSum=1.2;DB;DP=16;FS=0.0;HRun=11;HaplotypeScore=88.1773;IndelType=I;MQ=57.76;MQ0=0;MQRankSum=-0.667;QD=4.03;ReadPosRankSum=-1.333;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C1orf86;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378543 GT:AD:DP:GQ:PL 0/1:11,5:16:99:104,0,147
1 2121118 rs2503701 C T 405.41 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=43.75;MQ0=0;QD=22.52;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C1orf86;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000497675 GT:AD:DP:GQ:PL 1/1:2,15:18:39.09:438,39,0
1 2125172 rs1058411 G A 483.09 PASS AB=0.414;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.262;DB;DP=29;Dels=0.0;FS=1.585;HRun=1;HaplotypeScore=0.0;MQ=59.2;MQ0=0;MQRankSum=-2.015;QD=16.66;ReadPosRankSum=0.199;SNPEFF_AMINO_ACID_CHANGE=P126S;SNPEFF_CODON_CHANGE=Ccc/Tcc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_2125078_2125349;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C1orf86;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000378546 GT:AD:DP:GQ:PL 0/1:12,17:29:99:513,0,342
1 2286947 rs1039100 A G 574.61 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MORN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378529 GT:AD:DP:GQ:PL 1/1:0,16:16:45.15:608,45,0
1 2288747 rs2645086 T C 117.54 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.731;QD=23.51;ReadPosRankSum=-0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MORN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378529 GT:AD:DP:GQ:PL 0/1:1,4:5:25.60:148,0,26
1 2328714 rs2645081 A G 490.04 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.45;MQ0=0;QD=32.67;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RER1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000493207 GT:AD:DP:GQ:PL 1/1:0,15:15:39.13:523,39,0
1 2332391 rs12037485 C T 2954.20 PASS AC=2;AF=1.00;AN=2;DB;DP=82;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.03;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PEX10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288774 GT:AD:DP:GQ:PL 1/1:0,82:82:99:2987,220,0
1 2338126 rs3795269 C A 312.57 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.2;MQ0=0;QD=24.04;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PEX10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000502666 GT:AD:DP:GQ:PL 1/1:1,12:13:30.09:346,30,0
1 2340200 rs2494598 T C 563.45 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.3;SNPEFF_AMINO_ACID_CHANGE=T97;SNPEFF_CODON_CHANGE=acA/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_2339891_2340297;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PEX10;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000288774 GT:AD:DP:GQ:PL 1/1:0,18:18:45.14:596,45,0
1 2409892 rs12727342 A G 107.34 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=0.068;DB;DP=15;Dels=0.0;FS=5.756;HRun=1;HaplotypeScore=1.6584;MQ=58.45;MQ0=0;MQRankSum=-1.154;QD=7.16;ReadPosRankSum=2.339;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLCH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288766 GT:AD:DP:GQ:PL 0/1:7,8:15:99:137,0,199
1 2411451 rs10797428 A G 532.71 PASS AB=0.447;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.594;DB;DP=38;Dels=0.0;FS=1.315;HRun=3;HaplotypeScore=0.0;MQ=59.51;MQ0=0;MQRankSum=-1.783;QD=14.02;ReadPosRankSum=0.899;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLCH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000498669 GT:AD:DP:GQ:PL 0/1:17,21:38:99:563,0,548
1 2420590 rs10752744 T C 1112.92 PASS AB=0.394;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.873;DB;DP=66;Dels=0.0;FS=1.256;HRun=1;HaplotypeScore=0.0;MQ=59.65;MQ0=0;MQRankSum=-0.61;QD=16.86;ReadPosRankSum=-0.361;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLCH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000278878 GT:AD:DP:GQ:PL 0/1:26,40:66:99:1143,0,794
1 2420913 rs6668720 A G 244.48 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.838;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.55;MQ0=0;MQRankSum=0.053;QD=15.28;ReadPosRankSum=2.258;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLCH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000278878 GT:AD:DP:GQ:PL 0/1:8,8:16:99:274,0,212
1 2422614 rs2477699 G A 543.09 PASS AB=0.514;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.459;DB;DP=35;Dels=0.0;FS=3.675;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.479;QD=15.52;ReadPosRankSum=-0.248;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLCH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000278878 GT:AD:DP:GQ:PL 0/1:18,17:35:99:573,0,604
1 2430617 rs2296442 C T 333.15 PASS AB=0.45;AC=1;AF=0.50;AN=2;BaseQRankSum=0.152;DB;DP=20;Dels=0.0;FS=10.349;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-2.051;QD=16.66;ReadPosRankSum=0.988;SNPEFF_AMINO_ACID_CHANGE=I129;SNPEFF_CODON_CHANGE=atC/atT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_2430523_2430669;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLCH2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000378483 GT:AD:DP:GQ:PL 0/1:9,11:20:99:363,0,301
1 2433894 rs55874156 G A 69.67 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=6.021;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=17.42;ReadPosRankSum=-0.727;SNPEFF_AMINO_ACID_CHANGE=R288Q;SNPEFF_CODON_CHANGE=cGg/cAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_2433551_2436969;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLCH2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000378483 GT:AD:DP:GQ:PL 0/1:1,3:4:21.40:100,0,21
1 2444414 rs7535528 G A 742.34 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=0.916;DB;DP=70;Dels=0.0;FS=2.026;HRun=0;HaplotypeScore=1.3123;MQ=59.67;MQ0=0;MQRankSum=0.707;QD=10.6;ReadPosRankSum=0.609;SNPEFF_AMINO_ACID_CHANGE=A508V;SNPEFF_CODON_CHANGE=gCg/gTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_2444327_2444478;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PANK4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000435556 GT:AD:DP:GQ:PL 0/1:42,28:70:99:772,0,1142
1 2452569 rs2985862 T C 804.60 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.524;DB;DP=60;Dels=0.0;FS=2.345;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.811;QD=13.41;ReadPosRankSum=-0.569;SNPEFF_AMINO_ACID_CHANGE=K131;SNPEFF_CODON_CHANGE=aaA/aaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_2452540_2452754;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PANK4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000378466 GT:AD:DP:GQ:PL 0/1:30,30:60:99:835,0,882
1 2488153 rs4870 A G 66.88 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.133;DB;DP=10;Dels=0.0;FS=5.441;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.633;QD=6.69;ReadPosRankSum=-0.741;SNPEFF_AMINO_ACID_CHANGE=K17R;SNPEFF_CODON_CHANGE=aAa/aGa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_2487805_2488172;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNFRSF14;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000355716 GT:AD:DP:GQ:PL 0/1:6,4:10:96.87:97,0,209
1 2494330 rs2234167 G A 589.99 PASS AB=0.438;AC=1;AF=0.50;AN=2;BaseQRankSum=0.901;DB;DP=32;Dels=0.0;FS=3.637;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.141;QD=18.44;ReadPosRankSum=1.261;SNPEFF_AMINO_ACID_CHANGE=V241I;SNPEFF_CODON_CHANGE=Gtc/Atc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_2494304_2494335;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNFRSF14;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000355716 GT:AD:DP:GQ:PL 0/1:14,18:32:99:620,0,310
1 2494785 rs8725 G A 167.36 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.827;DB;DP=15;Dels=0.0;FS=3.136;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.648;QD=11.16;ReadPosRankSum=0.884;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNFRSF14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409119 GT:AD:DP:GQ:PL 0/1:9,6:15:99:197,0,249
1 2522392 rs2296443 G A 42.97 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.231;QD=8.59;ReadPosRankSum=-0.358;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C1orf93;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464043 GT:AD:DP:GQ:PL 0/1:2,3:5:13.67:73,0,14
1 2527678 rs2260976 A G 396.50 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=54.44;MQ0=0;QD=30.5;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C1orf93;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378424 GT:AD:DP:GQ:PL 1/1:0,13:13:33.10:429,33,0
1 2528133 rs2843401 T C 872.14 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.25;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MMEL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288709 GT:AD:DP:GQ:PL 1/1:0,31:31:72.20:905,72,0
1 2560735 rs4648657 A G 38.32 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=47.12;MQ0=0;QD=19.16;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MMEL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000511099 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:70,6,0
1 2560882 rs4648658 G A 87.05 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.76;SNPEFF_AMINO_ACID_CHANGE=A14;SNPEFF_CODON_CHANGE=gcC/gcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_2560770_2560960;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MMEL1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000378411 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:119,9,0
1 2560903 rs4648659 T G 80.54 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.85;SNPEFF_AMINO_ACID_CHANGE=P7;SNPEFF_CODON_CHANGE=ccA/ccC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_2560770_2560960;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MMEL1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000378411 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:113,9,0
1 2573199 rs4648662 A G 118.33 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.58;SNPEFF_AMINO_ACID_CHANGE=L437;SNPEFF_CODON_CHANGE=Ttg/Ctg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_2572773_2573334;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC34;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000401094 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:151,12,0
1 2985885 rs7413494 C G 125.09 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.02;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRDM16;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270722 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:158,12,0
1 3312963 rs12726710 C T 48.77 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=16.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRDM16;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270722 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:80,6,0
1 3319674 rs12562397 C T 39.61 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=13.2;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRDM16;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270722 GT:AD:DP:GQ:PL 0/1:1,2:3:32.20:70,0,32
1 3319681 rs12562399 C G 45.86 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=15.29;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRDM16;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270722 GT:AD:DP:GQ:PL 0/1:1,2:3:28.77:76,0,29
1 3328358 rs870124 T C 915.22 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.988;DB;DP=64;Dels=0.0;FS=0.926;HRun=1;HaplotypeScore=0.0;MQ=58.55;MQ0=0;MQRankSum=0.665;QD=14.3;ReadPosRankSum=2.142;SNPEFF_AMINO_ACID_CHANGE=S342P;SNPEFF_CODON_CHANGE=Tcg/Ccg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_3327948_3329364;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRDM16;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000509860 GT:AD:DP:GQ:PL 0/1:32,32:64:99:945,0,940
1 3328659 rs2493292 C T 607.77 PASS AB=0.51;AC=1;AF=0.50;AN=2;BaseQRankSum=2.063;DB;DP=51;Dels=0.0;FS=1.072;HRun=1;HaplotypeScore=2.3113;MQ=59.55;MQ0=0;MQRankSum=-0.198;QD=11.92;ReadPosRankSum=-1.668;SNPEFF_AMINO_ACID_CHANGE=P442L;SNPEFF_CODON_CHANGE=cCt/cTt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_3327948_3329364;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRDM16;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000509860 GT:AD:DP:GQ:PL 0/1:26,25:51:99:638,0,781
1 3342364 rs11805974 C T 224.98 PASS AB=0.609;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.535;DB;DP=23;Dels=0.0;FS=2.006;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.283;QD=9.78;ReadPosRankSum=1.291;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRDM16;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270722 GT:AD:DP:GQ:PL 0/1:14,9:23:99:255,0,497
1 3350134 rs10752734 T C 291.38 PASS AB=0.278;AC=1;AF=0.50;AN=2;BaseQRankSum=1.758;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=45.88;MQ0=0;MQRankSum=1.637;QD=16.19;ReadPosRankSum=-1.88;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRDM16;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270722 GT:AD:DP:GQ:PL 0/1:5,13:18:9.92:321,0,10
1 3383665 rs7550948 G A 378.90 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF16;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378373 GT:AD:DP:GQ:PL 1/1:0,12:12:30.10:412,30,0
1 3383898 rs6424078 A G 92.60 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.87;SNPEFF_AMINO_ACID_CHANGE=P267;SNPEFF_CODON_CHANGE=ccA/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_3383732_3383901;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF16;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000378378 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:125,9,0
1 3389727 rs2185639 C T 695.74 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.99;SNPEFF_AMINO_ACID_CHANGE=H370Y;SNPEFF_CODON_CHANGE=Cac/Tac;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_3389642_3389794;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF16;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000378378 GT:AD:DP:GQ:PL 1/1:0,24:24:60.14:729,60,0
1 3390238 rs2493323 T A 76.36 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.45;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF16;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000445297 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:108,9,0
1 3394250 rs10909948 C T 42.84 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=47.12;MQ0=0;QD=21.42;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF16;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418137 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:74,6,0
1 3394456 rs4638054 T C 1486.60 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.01;MQ0=0;QD=31.63;SNPEFF_AMINO_ACID_CHANGE=S201;SNPEFF_CODON_CHANGE=tcT/tcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_3394439_3394590;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF16;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000413250 GT:AD:DP:GQ:PL 1/1:0,47:47:99:1520,117,0
1 3394640 rs4422946 A G 1116.30 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9967;MQ=58.5;MQ0=0;QD=36.01;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF16;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418137 GT:AD:DP:GQ:PL 1/1:0,31:31:90.26:1149,90,0
1 3394674 rs4534324 T C 526.75 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.2443;MQ=58.84;MQ0=0;QD=26.34;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF16;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418137 GT:AD:DP:GQ:PL 1/1:0,20:20:51.11:560,51,0
1 3395039 rs10797395 G A 1935.92 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.748;MQ=59.2;MQ0=0;QD=33.38;SNPEFF_AMINO_ACID_CHANGE=V263;SNPEFF_CODON_CHANGE=gtG/gtA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_3394988_3395176;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF16;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000413250 GT:AD:DP:GQ:PL 1/1:0,58:58:99:1969,150,0
1 3395229 rs4553117 T C 363.52 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.96;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF16;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418137 GT:AD:DP:GQ:PL 1/1:0,13:13:36.07:397,36,0
1 3396609 rs881978 C T 47.34 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.67;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF16;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418137 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
1 3397188 rs2487677 T C 273.36 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.37;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF16;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418137 GT:AD:DP:GQ:PL 1/1:0,9:9:24.08:306,24,0
1 3410581 rs61746168 G A 73.89 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=1.754;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.2434;MQ=56.62;MQ0=0;MQRankSum=0.55;QD=10.56;ReadPosRankSum=-0.55;SNPEFF_AMINO_ACID_CHANGE=H1413Y;SNPEFF_CODON_CHANGE=Cac/Tac;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_3410560_3410688;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MEGF6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000356575 GT:AD:DP:GQ:PL 0/1:4,3:7:94.01:104,0,94
1 3413868 rs4648506 C G 32.85 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.05;MQ0=0;MQRankSum=0.72;QD=4.11;ReadPosRankSum=0.72;SNPEFF_AMINO_ACID_CHANGE=G1137A;SNPEFF_CODON_CHANGE=gGc/gCc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_3413797_3413925;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MEGF6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000356575 GT:AD:DP:GQ:PL 0/1:5,3:8:62.85:63,0,100
1 3418391 rs4648508 C T 305.98 PASS AB=0.389;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.05;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=56.04;MQ0=0;MQRankSum=0.05;QD=17.0;ReadPosRankSum=0.553;SNPEFF_AMINO_ACID_CHANGE=P656;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_3418360_3418485;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MEGF6;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000294599 GT:AD:DP:GQ:PL 0/1:7,11:18:99:336,0,169
1 3418565 rs2821030 T C 138.78 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9966;MQ=43.31;MQ0=0;QD=17.35;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MEGF6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294599 GT:AD:DP:GQ:PL 1/1:0,8:8:15.04:172,15,0
1 3440647 rs2794322 T C 305.95 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.99;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MEGF6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294599 GT:AD:DP:GQ:PL 1/1:0,9:9:27.08:339,27,0
1 3440824 rs10797399 G A 311.01 PASS AB=0.516;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.018;DB;DP=31;Dels=0.0;FS=1.468;HRun=0;HaplotypeScore=1.7356;MQ=60.0;MQ0=0;MQRankSum=-0.686;QD=10.03;ReadPosRankSum=-0.977;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MEGF6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294599 GT:AD:DP:GQ:PL 0/1:16,15:31:99:341,0,448
1 3496479 rs2794340 T C 284.53 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.61;SNPEFF_AMINO_ACID_CHANGE=S131G;SNPEFF_CODON_CHANGE=Agc/Ggc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_3496389_3496493;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MEGF6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000356575 GT:AD:DP:GQ:PL 1/1:0,9:9:24.08:318,24,0
1 3496571 . G A 62.32 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.231;QD=12.46;ReadPosRankSum=0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MEGF6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356575 GT:AD:DP:GQ:PL 0/1:2,3:5:68.83:92,0,69
1 3511934 rs7513275 A G 269.93 PASS AB=0.639;AC=1;AF=0.50;AN=2;BaseQRankSum=0.306;DB;DP=36;Dels=0.0;FS=3.247;HRun=0;HaplotypeScore=0.8321;MQ=59.36;MQ0=0;MQRankSum=-0.595;QD=7.5;ReadPosRankSum=0.811;SNPEFF_AMINO_ACID_CHANGE=M115T;SNPEFF_CODON_CHANGE=aTg/aCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_3511902_3512011;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MEGF6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000356575 GT:AD:DP:GQ:PL 0/1:23,13:36:99:300,0,596
1 3512188 rs7554061 C T 44.98 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=14.99;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MEGF6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356575 GT:AD:DP:GQ:PL 0/1:1,2:3:25.32:75,0,25
1 3518857 rs2821014 A C 35.98 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.99;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MEGF6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356575 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:67,6,0
1 3518944 rs7521546 T C 77.35 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.72;DB;DP=7;Dels=0.0;FS=3.31;HRun=2;HaplotypeScore=0.9665;MQ=56.62;MQ0=0;MQRankSum=1.38;QD=11.05;ReadPosRankSum=0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MEGF6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356575 GT:AD:DP:GQ:PL 0/1:2,5:7:69.41:107,0,69
1 3519179 rs2794330 C T 171.42 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.749;DB;DP=12;Dels=0.0;FS=2.632;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.749;QD=14.28;ReadPosRankSum=2.181;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MEGF6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356575 GT:AD:DP:GQ:PL 0/1:6,6:12:99:201,0,117
1 3527944 rs10797402 C G 134.96 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.74;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_1_3527702_3528059;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MEGF6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356575 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:167,12,0
1 3544235 rs35816205 TA T 1261.58 PASS AB=0.701;AC=1;AF=0.50;AN=2;BaseQRankSum=6.046;DB;DP=108;FS=0.0;HRun=3;HaplotypeScore=339.7939;IndelType=D;MQ=59.7;MQ0=0;MQRankSum=2.672;QD=11.68;ReadPosRankSum=0.582;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WRAP73;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270708 GT:AD:DP:GQ:PL 0/1:62,46:108:99:1301,0,2118
1 3544346 rs4276857 T C 264.39 PASS AB=0.565;AC=1;AF=0.50;AN=2;BaseQRankSum=1.469;DB;DP=23;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.002;QD=11.5;ReadPosRankSum=0.801;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WRAP73;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270708 GT:AD:DP:GQ:PL 0/1:13,10:23:99:294,0,445
1 3545175 rs139554736 GTTCTGGGAGCTCCTCCCCC G 872.77 PASS AC=2;AF=1.00;AN=2;DB;DP=21;FS=0.0;HRun=0;HaplotypeScore=319.5668;IndelType=D;MQ=49.75;MQ0=0;QD=41.56;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WRAP73;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270708 GT:AD:DP:GQ:PL 1/1:13,8:21:24.08:915,24,0
1 3548136 rs2760321 T C 1156.09 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.38;MQ0=0;QD=31.25;SNPEFF_AMINO_ACID_CHANGE=A378;SNPEFF_CODON_CHANGE=gcA/gcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_3548030_3548221;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WRAP73;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000270708 GT:AD:DP:GQ:PL 1/1:0,37:37:93.27:1189,93,0
1 3548342 rs2181485 G A 73.99 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=14.8;ReadPosRankSum=0.358;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TPRG1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344579 GT:AD:DP:GQ:PL 0/1:2,3:5:61.96:104,0,62
1 3548542 rs2244942 T C 82.59 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=13.77;ReadPosRankSum=-0.727;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TPRG1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344579 GT:AD:DP:GQ:PL 0/1:3,3:6:13.65:112,0,14
1 3548832 rs2760320 G C 1241.32 PASS AB=0.442;AC=1;AF=0.50;AN=2;BaseQRankSum=0.451;DB;DP=77;Dels=0.0;FS=3.376;HRun=2;HaplotypeScore=0.0;MQ=59.7;MQ0=0;MQRankSum=-0.786;QD=16.12;ReadPosRankSum=-0.252;SNPEFF_AMINO_ACID_CHANGE=I286M;SNPEFF_CODON_CHANGE=atC/atG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_3548777_3548902;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WRAP73;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000424367 GT:AD:DP:GQ:PL 0/1:34,43:77:99:1271,0,1052
1 3549852 rs2273954 G A 452.84 PASS AB=0.528;AC=1;AF=0.50;AN=2;BaseQRankSum=2.028;DB;DP=36;Dels=0.0;FS=4.66;HRun=2;HaplotypeScore=0.0;MQ=58.71;MQ0=0;MQRankSum=-0.412;QD=12.58;ReadPosRankSum=-0.285;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TPRG1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344579 GT:AD:DP:GQ:PL 0/1:19,17:36:99:483,0,537
1 3553789 rs2821058 T C 41.87 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.93;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WRAP73;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270708 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:73,6,0
1 3555428 rs3818330 G T 307.43 PASS AB=0.586;AC=1;AF=0.50;AN=2;BaseQRankSum=0.512;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.122;QD=10.6;ReadPosRankSum=-0.61;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WRAP73;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270708 GT:AD:DP:GQ:PL 0/1:17,12:29:99:337,0,452
1 3638674 rs1801174 C T 2088.42 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.24;SNPEFF_AMINO_ACID_CHANGE=T102;SNPEFF_CODON_CHANGE=acC/acT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_3638585_3638771;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TP73;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000378290 GT:AD:DP:GQ:PL 1/1:0,61:61:99:2121,156,0
1 3638834 rs12737840 C T 225.63 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=2.637;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-2.18;QD=18.8;ReadPosRankSum=0.289;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TP73;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000346387 GT:AD:DP:GQ:PL 0/1:4,8:12:99:256,0,101
1 3640085 rs6424091 C G 123.11 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.8321;MQ=55.21;MQ0=0;QD=24.62;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TP73;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000346387 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:156,12,0
1 3645835 rs2254530 C A 1225 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.67;MQ0=0;QD=35.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TP73;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000346387 GT:AD:DP:GQ:PL 1/1:0,35:35:99:1258,99,0
1 3645844 rs2096224 G A 1359.50 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.81;MQ0=0;QD=34.86;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TP73;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000346387 GT:AD:DP:GQ:PL 1/1:0,39:39:99:1393,105,0
1 3646080 . CAGG C 844.92 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=2.666;DP=35;FS=0.0;HRun=0;HaplotypeScore=194.0967;IndelType=D;MQ=59.3;MQ0=0;MQRankSum=-1.07;QD=24.14;ReadPosRankSum=-0.915;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TP73;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000346387 GT:AD:DP:GQ:PL 0/1:15,20:35:99:884,0,709
1 3646137 rs11589885 C T 1043.29 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.37;MQ0=0;QD=35.98;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TP73;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000346387 GT:AD:DP:GQ:PL 1/1:0,29:29:81.24:1076,81,0
1 3646192 rs1885867 G A 696.07 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.99;MQ0=0;QD=30.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TP73;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000346387 GT:AD:DP:GQ:PL 1/1:0,23:23:54.18:729,54,0
1 3646214 rs1885866 T C 532.94 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.78;MQ0=0;QD=28.05;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TP73;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000346387 GT:AD:DP:GQ:PL 1/1:0,19:19:45.13:566,45,0
1 3646291 rs1885865 G A 130.84 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.71;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TP73;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000346387 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:163,12,0
1 3647962 rs1745813 T C 540.04 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.77;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TP73;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000346387 GT:AD:DP:GQ:PL 1/1:0,17:17:42.14:573,42,0
1 3659657 rs2298222 G A 245.40 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=3.123;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.85;MQ0=0;MQRankSum=-0.412;QD=16.36;ReadPosRankSum=0.295;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TP73-AS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000544565 GT:AD:DP:GQ:PL 0/1:6,9:15:99:275,0,140
1 3662845 rs3737589 A G 119.48 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.38;QD=19.91;ReadPosRankSum=0.72;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TP73-AS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418088 GT:AD:DP:GQ:PL 0/1:2,4:6:57.53:149,0,58
1 3669201 rs10797410 A G 527.84 PASS AB=0.56;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.961;DB;DP=50;Dels=0.0;FS=1.102;HRun=0;HaplotypeScore=2.6103;MQ=58.6;MQ0=0;MQRankSum=-0.459;QD=10.56;ReadPosRankSum=-0.42;SNPEFF_AMINO_ACID_CHANGE=P52;SNPEFF_CODON_CHANGE=ccA/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_3668962_3669363;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC27;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000294600 GT:AD:DP:GQ:PL 0/1:28,22:50:99:558,0,771
1 3669205 rs10910021 C G 568.96 PASS AB=0.553;AC=1;AF=0.50;AN=2;BaseQRankSum=0.096;DB;DP=47;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.51;MQ0=0;MQRankSum=0.439;QD=12.11;ReadPosRankSum=-0.888;SNPEFF_AMINO_ACID_CHANGE=Q54E;SNPEFF_CODON_CHANGE=Cag/Gag;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_3668962_3669363;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC27;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000294600 GT:AD:DP:GQ:PL 0/1:26,21:47:99:599,0,738
1 3671027 rs1181889 T C 42.86 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=14.29;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC27;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294600 GT:AD:DP:GQ:PL 0/1:1,2:3:32.73:73,0,33
1 3672156 rs4648555 C A 1448.96 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.708;DB;DP=93;Dels=0.0;FS=2.047;HRun=0;HaplotypeScore=0.8941;MQ=59.5;MQ0=0;MQRankSum=0.788;QD=15.58;ReadPosRankSum=-0.317;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC27;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294600 GT:AD:DP:GQ:PL 0/1:43,50:93:99:1479,0,1308
1 3673149 rs35440871 CAA C 218.49 PASS AB=0.684;AC=1;AF=0.50;AN=2;BaseQRankSum=1.813;DB;DP=13;FS=0.0;HRun=2;HaplotypeScore=67.9956;IndelType=D;MQ=58.2;MQ0=0;MQRankSum=-0.259;QD=16.81;ReadPosRankSum=1.073;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC27;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294600 GT:AD:DP:GQ:PL 0/1:7,6:13:99:258,0,330
1 3677933 rs1181883 T C 1011.39 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.63;SNPEFF_AMINO_ACID_CHANGE=M267T;SNPEFF_CODON_CHANGE=aTg/aCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_3677845_3677994;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC27;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000294600 GT:AD:DP:GQ:PL 1/1:0,31:31:84.23:1044,84,0
1 3732103 rs4648409 T C 287.91 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.152;DB;DP=21;Dels=0.0;FS=13.512;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.836;QD=13.71;ReadPosRankSum=-1.216;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEP104;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378230 GT:AD:DP:GQ:PL 0/1:9,12:21:99:318,0,264
1 3732172 rs4233019 C T 264.16 PASS AB=0.308;AC=1;AF=0.50;AN=2;BaseQRankSum=2.546;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.55;MQ0=0;MQRankSum=1.157;QD=20.32;ReadPosRankSum=0.386;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEP104;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378230 GT:AD:DP:GQ:PL 0/1:4,9:13:99:294,0,104
1 3732639 rs6702916 T A 62.89 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.731;QD=12.58;ReadPosRankSum=-0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEP104;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378230 GT:AD:DP:GQ:PL 0/1:1,4:5:30.20:93,0,30
1 3732707 rs6702935 T C 301.75 PASS AB=0.154;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.099;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.35;MQ0=0;MQRankSum=-1.48;QD=23.21;ReadPosRankSum=-1.086;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEP104;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378230 GT:AD:DP:GQ:PL 0/1:2,11:13:45.70:332,0,46
1 3732782 rs6703035 T C 350.61 PASS AB=0.44;AC=1;AF=0.50;AN=2;BaseQRankSum=0.356;DB;DP=25;Dels=0.0;FS=3.741;HRun=0;HaplotypeScore=0.0;MQ=59.07;MQ0=0;MQRankSum=0.903;QD=14.02;ReadPosRankSum=0.849;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEP104;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378230 GT:AD:DP:GQ:PL 0/1:11,14:25:99:381,0,339
1 3743109 rs2275834 A G 320.25 PASS AB=0.294;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.793;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.63;MQ0=0;MQRankSum=1.001;QD=18.84;ReadPosRankSum=-2.266;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEP104;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460038 GT:AD:DP:GQ:PL 0/1:5,12:17:99:350,0,158
1 3743132 rs4648344 T C 394.27 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.261;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=57.87;MQ0=0;MQRankSum=0.783;QD=17.92;ReadPosRankSum=1.529;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEP104;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460038 GT:AD:DP:GQ:PL 0/1:7,14:22:99:424,0,206
1 3743391 rs6688969 C T 567.39 PASS AB=0.28;AC=1;AF=0.50;AN=2;BaseQRankSum=3.662;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.86;MQ0=0;MQRankSum=1.725;QD=22.7;ReadPosRankSum=0.212;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEP104;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460038 GT:AD:DP:GQ:PL 0/1:7,18:25:99:597,0,176
1 3743433 rs5772126 T TG 216.01 PASS AB=0.611;AC=1;AF=0.50;AN=2;BaseQRankSum=2.166;DB;DP=11;FS=0.0;HRun=2;HaplotypeScore=54.895;IndelType=I;MQ=61.94;MQ0=0;MQRankSum=1.386;QD=19.64;ReadPosRankSum=0.296;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEP104;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460038 GT:AD:DP:GQ:PL 0/1:4,7:11:75.89:255,0,76
1 3746254 rs2275830 T C 660.08 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.83;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEP104;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460038 GT:AD:DP:GQ:PL 1/1:0,17:17:51.16:693,51,0
1 3746583 rs2275828 G T 343.53 SnpCluster AB=0.594;AC=1;AF=0.50;AN=2;BaseQRankSum=2.942;DB;DP=32;Dels=0.0;FS=2.071;HRun=2;HaplotypeScore=0.0;MQ=59.28;MQ0=0;MQRankSum=-1.541;QD=10.74;ReadPosRankSum=0.1;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEP104;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460038 GT:AD:DP:GQ:PL 0/1:19,13:32:99:374,0,578
1 3746585 rs2275827 T G 540.83 SnpCluster AB=0.394;AC=1;AF=0.50;AN=2;BaseQRankSum=1.189;DB;DP=33;Dels=0.0;FS=2.013;HRun=0;HaplotypeScore=0.0;MQ=59.3;MQ0=0;MQRankSum=1.266;QD=16.39;ReadPosRankSum=-0.23;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEP104;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460038 GT:AD:DP:GQ:PL 0/1:13,20:33:99:571,0,404
1 3746589 rs2275826 C G 1064.10 SnpCluster AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.69;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEP104;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460038 GT:AD:DP:GQ:PL 1/1:0,29:29:78.26:1097,78,0
1 3747580 rs6424058 C T 256.79 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.208;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.706;QD=14.27;ReadPosRankSum=-0.265;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEP104;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443466 GT:AD:DP:GQ:PL 0/1:9,9:18:99:287,0,284
1 3747603 rs6413779 T C 874.38 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.98;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEP104;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443466 GT:AD:DP:GQ:PL 1/1:0,25:25:69.21:907,69,0
1 3750729 rs6677381 A G 195.97 PASS AB=0.125;AC=1;AF=0.50;AN=2;BaseQRankSum=0.747;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.747;QD=24.5;ReadPosRankSum=-0.747;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEP104;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000428079 GT:AD:DP:GQ:PL 0/1:1,7:8:17.69:226,0,18
1 3750731 rs6680017 T G 255.60 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.95;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEP104;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000428079 GT:AD:DP:GQ:PL 1/1:0,8:8:24.07:289,24,0
1 3753032 rs36051675 G GT 81.08 PASS AC=2;AF=1.00;AN=2;DB;DP=39;FS=0.0;HRun=24;HaplotypeScore=306.1414;IndelType=I;MQ=40.24;MQ0=0;QD=2.08;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEP104;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000428079 GT:AD:DP:GQ:PL 1/1:29,5:39:20.38:123,20,0
1 3753136 rs2275824 A T 1193.71 PASS AB=0.436;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.031;DB;DP=78;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.2657;MQ=52.45;MQ0=0;MQRankSum=-0.43;QD=15.3;ReadPosRankSum=-0.482;SNPEFF_AMINO_ACID_CHANGE=L108I;SNPEFF_CODON_CHANGE=Tta/Ata;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_3753059_3753256;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEP104;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000443466 GT:AD:DP:GQ:PL 0/1:34,44:78:99:1224,0,995
1 3755675 rs1891941 T C 1812.90 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.09;MQ0=0;QD=35.55;SNPEFF_AMINO_ACID_CHANGE=E190;SNPEFF_CODON_CHANGE=gaA/gaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_3755647_3755683;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEP104;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000428079 GT:AD:DP:GQ:PL 1/1:0,51:51:99:1846,135,0
1 3755869 rs1891940 T C 48.72 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.36;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEP104;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378223 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:80,6,0
1 3755875 rs1891939 T G 42.59 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.29;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEP104;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378223 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:74,6,0
1 3756120 rs1539649 A G 554.33 PASS AB=0.532;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.874;DB;DP=47;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.757;QD=11.79;ReadPosRankSum=1.674;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEP104;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378223 GT:AD:DP:GQ:PL 0/1:25,22:47:99:584,0,898
1 3759784 rs10797347 A G 788.55 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.99;MQ0=0;QD=34.28;SNPEFF_AMINO_ACID_CHANGE=F224L;SNPEFF_CODON_CHANGE=Ttc/Ctc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_3759673_3759887;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEP104;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000378223 GT:AD:DP:GQ:PL 1/1:0,23:23:60.20:822,60,0
1 3761479 rs2275822 C T 493.26 PASS AB=0.486;AC=1;AF=0.50;AN=2;BaseQRankSum=0.182;DB;DP=35;Dels=0.0;FS=5.153;HRun=0;HaplotypeScore=0.0;MQ=58.67;MQ0=0;MQRankSum=0.116;QD=14.09;ReadPosRankSum=-0.479;SNPEFF_AMINO_ACID_CHANGE=T128;SNPEFF_CODON_CHANGE=acG/acA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_3761471_3761547;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEP104;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000428079 GT:AD:DP:GQ:PL 0/1:17,18:35:99:523,0,519
1 3761650 rs2275821 A G 433.83 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.15;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEP104;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378223 GT:AD:DP:GQ:PL 1/1:0,12:12:36.11:467,36,0
1 3761772 rs7538067 C T 581.76 PASS AB=0.452;AC=1;AF=0.50;AN=2;BaseQRankSum=0.655;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.4;MQ0=0;MQRankSum=0.417;QD=18.77;ReadPosRankSum=1.965;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEP104;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378223 GT:AD:DP:GQ:PL 0/1:14,17:31:99:612,0,469
1 3763864 rs12047360 G A 64.79 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=0.988;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=9.26;ReadPosRankSum=-0.406;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEP104;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378223 GT:AD:DP:GQ:PL 0/1:4,3:7:80.60:95,0,81
1 3764216 rs10492942 C T 204.61 PASS AB=0.619;AC=1;AF=0.50;AN=2;BaseQRankSum=2.064;DB;DP=21;Dels=0.0;FS=4.191;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.036;QD=9.74;ReadPosRankSum=1.629;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEP104;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378223 GT:AD:DP:GQ:PL 0/1:13,8:21:99:235,0,471
1 3765549 rs4648346 G A 48.77 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEP104;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378223 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:80,6,0
1 3768719 rs1539647 T C 83.28 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.76;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEP104;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378223 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:115,9,0
1 3768729 rs1539648 T C 93.19 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.06;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEP104;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378223 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:125,9,0
1 3775454 rs4376673 C G 394.87 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.9;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DFFB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000338895 GT:AD:DP:GQ:PL 1/1:0,11:11:33.11:428,33,0
1 3782115 rs12127483 G A 39.21 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.21;MQ0=0;MQRankSum=0.0;QD=7.84;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DFFB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000338895 GT:AD:DP:GQ:PL 0/1:3,2:5:52.95:69,0,53
1 3782608 rs10909809 C T 446.76 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.75;MQ0=0;QD=29.78;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DFFB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378212 GT:AD:DP:GQ:PL 1/1:0,15:15:36.11:480,36,0
1 3800242 rs3205087 A G 1759.91 PASS AB=0.552;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.822;DB;DP=163;Dels=0.0;FS=0.587;HRun=0;HaplotypeScore=0.0;MQ=59.86;MQ0=0;MQRankSum=-2.341;QD=10.8;ReadPosRankSum=-1.786;SNPEFF_AMINO_ACID_CHANGE=P254;SNPEFF_CODON_CHANGE=ccA/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_3800071_3801993;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DFFB;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000339350 GT:AD:DP:GQ:PL 0/1:90,73:163:99:1790,0,2761
1 3806358 rs10909819 T C 359.09 PASS AB=0.278;AC=1;AF=0.50;AN=2;BaseQRankSum=1.577;DB;DP=18;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.71;MQ0=0;MQRankSum=-0.887;QD=19.95;ReadPosRankSum=0.099;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DFFB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000339350 GT:AD:DP:GQ:PL 0/1:5,13:18:99:389,0,141
1 3806643 rs4520357 T A 349.27 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=0.623;DB;DP=27;Dels=0.0;FS=4.483;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=-0.156;QD=12.94;ReadPosRankSum=0.675;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DFFB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000339350 GT:AD:DP:GQ:PL 0/1:15,12:27:99:379,0,464
1 3807593 rs4274008 G C 2969.52 PASS AC=2;AF=1.00;AN=2;DB;DP=92;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9469;MQ=59.8;MQ0=0;QD=32.28;SNPEFF_AMINO_ACID_CHANGE=T53R;SNPEFF_CODON_CHANGE=aCg/aGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_3807133_3807621;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf174;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000361605 GT:AD:DP:GQ:PL 1/1:0,92:92:99:3003,232,0
1 3809423 rs11807227 G A 133.03 PASS AB=0.688;AC=1;AF=0.50;AN=2;BaseQRankSum=3.059;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.113;QD=8.31;ReadPosRankSum=0.227;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf174;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361605 GT:AD:DP:GQ:PL 0/1:11,5:16:99:163,0,316
1 4772053 rs1061968 T C 4048.63 PASS AC=2;AF=1.00;AN=2;DB;DP=143;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=59.38;MQ0=0;QD=28.31;SNPEFF_AMINO_ACID_CHANGE=C41;SNPEFF_CODON_CHANGE=tgT/tgC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_4771960_4772759;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AJAP1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000378190 GT:AD:DP:GQ:PL 1/1:1,142:143:99:4049,343,0
1 4772717 rs242056 G A 706.59 PASS AB=0.532;AC=1;AF=0.50;AN=2;BaseQRankSum=3.401;DB;DP=62;Dels=0.0;FS=2.12;HRun=0;HaplotypeScore=0.9789;MQ=60.0;MQ0=0;MQRankSum=1.798;QD=11.4;ReadPosRankSum=-0.484;SNPEFF_AMINO_ACID_CHANGE=G263R;SNPEFF_CODON_CHANGE=Ggg/Agg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_4771960_4772759;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AJAP1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000378190 GT:AD:DP:GQ:PL 0/1:33,29:62:99:737,0,856
1 4829795 rs3950181 C T 233.35 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.752;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.529;QD=13.73;ReadPosRankSum=-0.741;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AJAP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378190 GT:AD:DP:GQ:PL 0/1:8,9:17:99:263,0,247
1 4832521 . G A 286.95 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=0.692;DP=33;Dels=0.0;FS=3.325;HRun=0;HaplotypeScore=0.0;MQ=59.3;MQ0=0;MQRankSum=0.356;QD=8.7;ReadPosRankSum=0.356;SNPEFF_AMINO_ACID_CHANGE=V367M;SNPEFF_CODON_CHANGE=Gtg/Atg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_4832340_4832585;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AJAP1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000378190 GT:AD:DP:GQ:PL 0/1:21,12:33:99:317,0,652
1 5925040 rs11121682 G A 194.79 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=1.589;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.067;QD=24.35;ReadPosRankSum=1.589;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NPHP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468253 GT:AD:DP:GQ:PL 0/1:2,6:8:43.67:225,0,44
1 5926507 rs555164 T C 101.10 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.196;DB;DP=21;Dels=0.0;FS=2.185;HRun=0;HaplotypeScore=0.0;MQ=58.89;MQ0=0;MQRankSum=0.206;QD=4.81;ReadPosRankSum=1.113;SNPEFF_AMINO_ACID_CHANGE=E1190;SNPEFF_CODON_CHANGE=gaA/gaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_5926433_5926518;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NPHP4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000378156 GT:AD:DP:GQ:PL 0/1:15,6:21:99:131,0,433
1 5927031 rs12122135 A G 270.73 PASS AB=0.182;AC=1;AF=0.50;AN=2;BaseQRankSum=1.061;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.118;QD=24.61;ReadPosRankSum=-0.354;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NPHP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468253 GT:AD:DP:GQ:PL 0/1:2,9:11:48.93:301,0,49
1 5927738 rs2297791 G A 217.03 PASS AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=1.837;DB;DP=19;Dels=0.0;FS=5.315;HRun=1;HaplotypeScore=2.7663;MQ=58.78;MQ0=0;MQRankSum=-0.041;QD=11.42;ReadPosRankSum=0.776;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NPHP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378156 GT:AD:DP:GQ:PL 0/1:10,9:19:99:247,0,271
1 5933384 rs41280800 C G 426.09 PASS AB=0.622;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.651;DB;DP=45;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.49;MQ0=0;MQRankSum=1.085;QD=9.47;ReadPosRankSum=0.578;SNPEFF_AMINO_ACID_CHANGE=G1081;SNPEFF_CODON_CHANGE=ggG/ggC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_5933312_5933395;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NPHP4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000378156 GT:AD:DP:GQ:PL 0/1:28,17:45:99:456,0,813
1 5934490 rs868163 A G 38.36 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=19.18;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NPHP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470763 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:70,6,0
1 5935162 rs1287637 A T 393.98 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.31;SNPEFF_EFFECT=SPLICE_SITE_ACCEPTOR;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NPHP4;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000378169 GT:AD:DP:GQ:PL 1/1:0,13:13:30.10:427,30,0
1 5937091 rs1622955 T C 451.28 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.71;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NPHP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378156 GT:AD:DP:GQ:PL 1/1:0,13:13:36.12:484,36,0
1 5937168 rs3747992 G A 369.31 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=1.259;DB;DP=24;Dels=0.0;FS=1.674;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.322;QD=15.39;ReadPosRankSum=-0.029;SNPEFF_AMINO_ACID_CHANGE=R934;SNPEFF_CODON_CHANGE=cgC/cgT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_5937153_5937358;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NPHP4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000378156 GT:AD:DP:GQ:PL 0/1:10,14:24:99:399,0,256
1 5937327 rs3747990 C T 234.95 PASS AB=0.679;AC=1;AF=0.50;AN=2;BaseQRankSum=2.7;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=57.81;MQ0=0;MQRankSum=0.129;QD=8.39;ReadPosRankSum=1.157;SNPEFF_AMINO_ACID_CHANGE=A881;SNPEFF_CODON_CHANGE=gcG/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_5937153_5937358;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NPHP4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000378156 GT:AD:DP:GQ:PL 0/1:19,9:28:99:265,0,482
1 5937391 rs3747989 C T 740.62 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.99;MQ0=0;QD=35.27;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NPHP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378156 GT:AD:DP:GQ:PL 1/1:0,21:21:57.18:774,57,0
1 5937413 rs3747988 A C 252.58 PASS AB=0.294;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.161;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.5;MQ0=0;MQRankSum=-1.423;QD=14.86;ReadPosRankSum=-1.634;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NPHP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378156 GT:AD:DP:GQ:PL 0/1:5,12:17:99:283,0,162
1 5939544 rs11121915 T G 2632.62 PASS AC=2;AF=1.00;AN=2;DB;DP=86;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=59.73;MQ0=0;QD=30.61;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NPHP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378156 GT:AD:DP:GQ:PL 1/1:0,86:86:99:2666,205,0
1 5947308 rs41280814 G A 175.22 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.573;DB;DP=9;Dels=0.0;FS=4.771;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=0.573;QD=19.47;ReadPosRankSum=0.573;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NPHP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378160 GT:AD:DP:GQ:PL 0/1:3,6:9:86.43:205,0,86
1 5948677 rs2282281 G A 2601.69 PASS AC=2;AF=1.00;AN=2;DB;DP=78;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7465;MQ=59.7;MQ0=0;QD=33.35;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NPHP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378156 GT:AD:DP:GQ:PL 1/1:0,78:78:99:2635,196,0
1 5951013 rs34248917 C T 105.89 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=0.466;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9159;MQ=60.0;MQ0=0;MQRankSum=-0.387;QD=9.63;ReadPosRankSum=-0.825;SNPEFF_AMINO_ACID_CHANGE=R143H;SNPEFF_CODON_CHANGE=cGc/cAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_5950928_5951088;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NPHP4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000378160 GT:AD:DP:GQ:PL 0/1:6,5:11:99:136,0,188
1 5964991 rs3737234 T C 77.60 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=15.52;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NPHP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378156 GT:AD:DP:GQ:PL 1/1:0,5:5:11.98:110,12,0
1 5965179 rs11122125 A G 119.59 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.45;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.103;QD=11.96;ReadPosRankSum=-1.668;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NPHP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378156 GT:AD:DP:GQ:PL 0/1:5,5:10:99:150,0,144
1 5965381 rs12120967 C T 1648.41 PASS AB=0.523;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.848;DB;DP=128;Dels=0.0;FS=9.552;HRun=1;HaplotypeScore=4.7736;MQ=58.73;MQ0=0;MQRankSum=1.56;QD=12.88;ReadPosRankSum=1.273;SNPEFF_AMINO_ACID_CHANGE=E45;SNPEFF_CODON_CHANGE=gaG/gaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_5965352_5965543;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NPHP4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000378160 GT:AD:DP:GQ:PL 0/1:67,61:128:99:1678,0,2039
1 5987696 rs7520105 T C 654.35 PASS AB=0.532;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.075;DB;DP=47;Dels=0.0;FS=3.739;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.842;QD=13.92;ReadPosRankSum=0.288;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NPHP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378156 GT:AD:DP:GQ:PL 0/1:25,22:47:99:684,0,829
1 6007446 rs551207 C T 197.83 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.28;MQ0=0;QD=28.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NPHP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378156 GT:AD:DP:GQ:PL 1/1:0,7:7:18.06:231,18,0
1 6007474 rs10779677 G A 78.02 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.01;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NPHP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378156 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:110,9,0
1 6021927 . G A 1138.18 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.02;DP=70;Dels=0.0;FS=3.334;HRun=0;HaplotypeScore=0.0;MQ=59.67;MQ0=0;MQRankSum=1.078;QD=16.26;ReadPosRankSum=1.872;SNPEFF_AMINO_ACID_CHANGE=H200;SNPEFF_CODON_CHANGE=caC/caT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_6021854_6022009;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NPHP4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000378156 GT:AD:DP:GQ:PL 0/1:33,37:70:99:1168,0,918
1 6038583 rs4908639 G C 408.54 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.05;MQ0=0;QD=34.05;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NPHP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378156 GT:AD:DP:GQ:PL 1/1:0,12:12:33.11:442,33,0
1 6145365 rs2294936 A G 1176.71 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=59.41;MQ0=0;QD=30.17;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNAB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000435937 GT:AD:DP:GQ:PL 1/1:1,38:39:93.30:1210,93,0
1 6145465 rs7512313 T G 167.56 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.62;MQ0=0;QD=23.94;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNAB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000435937 GT:AD:DP:GQ:PL 1/1:0,7:7:15.05:200,15,0
1 6155332 rs1555144 T C 234.36 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.48;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNAB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000164247 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:267,21,0
1 6157282 rs749434 C T 54.16 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.05;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHD5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000262450 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:85,6,0
1 6158562 rs2229002 A G 789.95 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.17;MQ0=0;QD=28.21;SNPEFF_AMINO_ACID_CHANGE=S277;SNPEFF_CODON_CHANGE=tcA/tcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_6158545_6158915;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNAB2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000458166 GT:AD:DP:GQ:PL 1/1:0,28:28:63.20:823,63,0
1 6195269 rs114398792 C T 471.32 PASS AB=0.585;AC=1;AF=0.50;AN=2;BaseQRankSum=0.814;DB;DP=41;Dels=0.0;FS=1.271;HRun=0;HaplotypeScore=0.0;MQ=59.44;MQ0=0;MQRankSum=-1.67;QD=11.5;ReadPosRankSum=-0.179;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHD5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000262450 GT:AD:DP:GQ:PL 0/1:24,17:41:99:501,0,697
1 6257856 rs2294713 G A 90.36 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.929;DB;DP=12;Dels=0.0;FS=2.881;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.825;QD=7.53;ReadPosRankSum=0.929;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RPL22;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234875 GT:AD:DP:GQ:PL 0/1:8,4:12:99:120,0,217
1 6305292 rs61760836 C A 85.77 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.44;SNPEFF_AMINO_ACID_CHANGE=P96T;SNPEFF_CODON_CHANGE=Ccc/Acc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_6305170_6305638;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HES3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000377898 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:118,9,0
1 6305303 rs61760837 C A 83.46 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.82;SNPEFF_AMINO_ACID_CHANGE=A99;SNPEFF_CODON_CHANGE=gcC/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_6305170_6305638;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HES3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000377898 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:115,9,0
1 6313938 rs12735670 C T 178.98 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.83;SNPEFF_AMINO_ACID_CHANGE=R209H;SNPEFF_CODON_CHANGE=cGc/cAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_6313778_6314207;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR153;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000377893 GT:AD:DP:GQ:PL 1/1:0,6:6:18.05:212,18,0
1 6314349 rs6696630 A G 192.73 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.12;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR153;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000377893 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:226,18,0
1 6314479 rs12740426 C T 659.88 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8667;MQ=59.03;MQ0=0;QD=27.49;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR153;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000377893 GT:AD:DP:GQ:PL 1/1:0,24:24:57.17:693,57,0
1 6314822 rs11590458 T C 1265.15 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=58.84;MQ0=0;QD=31.63;SNPEFF_AMINO_ACID_CHANGE=T48;SNPEFF_CODON_CHANGE=acA/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_6314610_6315074;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR153;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000377893 GT:AD:DP:GQ:PL 1/1:0,40:40:99:1298,105,0
1 6501152 rs55884073 C T 306.37 PASS AB=0.214;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.401;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.156;QD=21.88;ReadPosRankSum=0.778;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ESPN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000377828 GT:AD:DP:GQ:PL 0/1:3,11:14:44.79:336,0,45
1 6522606 rs185344623 G A 539.55 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=4.071;DB;DP=39;Dels=0.0;FS=1.724;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.38;QD=13.83;ReadPosRankSum=-1.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ESPN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000377828 GT:AD:DP:GQ:PL 0/1:18,21:39:99:570,0,521
1 6579607 rs1556035 C T 967.31 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.2;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_1_6579505_6580069;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEKHG5;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000377737 GT:AD:DP:GQ:PL 1/1:0,26:26:78.24:1000,78,0
1 6585804 rs13513 C T 729.02 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.72;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOL9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000377705 GT:AD:DP:GQ:PL 1/1:0,21:21:57.19:762,57,0
1 6586070 rs7548042 C T 1919.74 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.29;MQ0=0;QD=36.92;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOL9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000377705 GT:AD:DP:GQ:PL 1/1:0,52:52:99:1953,144,0
1 6586553 rs2274553 C T 44.66 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.33;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOL9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000377705 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:76,6,0
1 6591937 rs932112 T C 331.42 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.13;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOL9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462798 GT:AD:DP:GQ:PL 1/1:0,11:11:27.09:364,27,0
1 6601773 rs3761927 T C 193.98 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.45;MQ0=0;QD=24.25;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOL9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000377705 GT:AD:DP:GQ:PL 1/1:0,8:8:18.05:227,18,0
1 6609559 rs11122091 C A 700.40 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.35;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOL9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000377705 GT:AD:DP:GQ:PL 1/1:0,21:21:54.18:733,54,0
1 6609851 rs10864622 A G 1058.08 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.27;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOL9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000377705 GT:AD:DP:GQ:PL 1/1:0,30:30:81.24:1091,81,0
1 6609896 rs11579888 G A 490.53 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.73;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOL9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000377705 GT:AD:DP:GQ:PL 1/1:0,13:13:39.13:524,39,0
1 6610366 rs2063805 T C 572.16 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.5;MQ0=0;QD=38.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOL9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000377705 GT:AD:DP:GQ:PL 1/1:0,15:15:45.13:605,45,0
1 6610382 rs2063806 C T 859.81 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.67;MQ0=0;QD=37.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOL9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000377705 GT:AD:DP:GQ:PL 1/1:0,23:23:69.21:893,69,0
1 6614391 rs6693391 A C 90.43 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.14;SNPEFF_AMINO_ACID_CHANGE=S58A;SNPEFF_CODON_CHANGE=Tcc/Gcc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_6614167_6614595;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOL9;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000377705 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:122,9,0
1 6614415 rs6693400 A G 141.42 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.57;SNPEFF_AMINO_ACID_CHANGE=W50R;SNPEFF_CODON_CHANGE=Tgg/Cgg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_6614167_6614595;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOL9;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000377705 GT:AD:DP:GQ:PL 1/1:0,6:6:15.04:174,15,0
1 6614535 rs4908923 G A 304.35 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.66;MQ0=0;QD=30.43;SNPEFF_AMINO_ACID_CHANGE=R10W;SNPEFF_CODON_CHANGE=Cgg/Tgg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_6614167_6614595;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOL9;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000377705 GT:AD:DP:GQ:PL 1/1:0,9:10:27.08:337,27,0
1 6614653 rs4908924 C G 37.29 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=47.12;MQ0=0;QD=18.64;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOL9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000377705 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:69,6,0
1 6615690 rs925745 A G 52.28 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAS1R1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328191 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
1 6615695 rs925744 C T 49.41 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.7;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAS1R1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328191 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
1 6631319 rs11122096 G A 793.61 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.49;MQ0=0;QD=36.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAS1R1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328191 GT:AD:DP:GQ:PL 1/1:0,22:22:63.19:827,63,0
1 6631352 rs34514006 TC T 264.14 PASS AC=2;AF=1.00;AN=2;DB;DP=11;FS=0.0;HRun=7;HaplotypeScore=59.0962;IndelType=D;MQ=60.98;MQ0=0;QD=24.01;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAS1R1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328191 GT:AD:DP:GQ:PL 1/1:1,10:11:30.07:306,30,0
1 6631431 rs11587438 C T 76.95 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.65;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAS1R1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328191 GT:AD:DP:GQ:PL 1/1:0,3:3:9.02:109,9,0
1 6635231 rs10864628 A G 1509.43 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.12;SNPEFF_AMINO_ACID_CHANGE=K347E;SNPEFF_CODON_CHANGE=Aag/Gag;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_6634691_6635452;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAS1R1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000328191 GT:AD:DP:GQ:PL 1/1:0,47:47:99:1542,117,0
1 6636461 rs17492553 C T 868.13 PASS AB=0.605;AC=1;AF=0.50;AN=2;BaseQRankSum=1.429;DB;DP=86;Dels=0.0;FS=0.884;HRun=0;HaplotypeScore=0.9997;MQ=59.14;MQ0=0;MQRankSum=1.356;QD=10.09;ReadPosRankSum=-0.833;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAS1R1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328191 GT:AD:DP:GQ:PL 0/1:52,34:86:99:898,0,1513
1 6639184 rs114555118 C T 732.92 PASS AB=0.525;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.92;DB;DP=59;Dels=0.0;FS=1.158;HRun=0;HaplotypeScore=0.9967;MQ=58.9;MQ0=0;MQRankSum=2.497;QD=12.42;ReadPosRankSum=0.083;SNPEFF_AMINO_ACID_CHANGE=A435V;SNPEFF_CODON_CHANGE=gCc/gTc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_6638713_6639686;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAS1R1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000351136 GT:AD:DP:GQ:PL 0/1:31,28:59:99:763,0,1001
1 6679848 rs2072948 C T 1603.90 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.13;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PHF13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000377648 GT:AD:DP:GQ:PL 1/1:0,47:47:99:1637,120,0
1 6681375 rs6695474 C T 160.84 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.81;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PHF13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000377648 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:194,15,0
1 6681744 rs3747994 C T 1022.02 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.5;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PHF13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000495385 GT:AD:DP:GQ:PL 1/1:0,28:28:78.23:1055,78,0
1 6690140 rs742394 A G 89.37 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.34;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAJC11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000349363 GT:AD:DP:GQ:PL 1/1:0,4:4:12.01:122,12,0
1 6693876 rs11583890 A G 43.53 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.77;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAJC11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294401 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:75,6,0
1 6694927 rs2294532 C T 42.20 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=47.12;MQ0=0;QD=21.1;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAJC11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294401 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:73,6,0
1 6695802 rs6577583 A G 1213.63 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.24;MQ0=0;QD=29.6;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAJC11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472414 GT:AD:DP:GQ:PL 1/1:0,41:41:93.30:1247,93,0
1 6704635 rs200458 A G 1201.51 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.33;SNPEFF_AMINO_ACID_CHANGE=G270;SNPEFF_CODON_CHANGE=ggT/ggC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_6704618_6704734;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAJC11;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000377573 GT:AD:DP:GQ:PL 1/1:0,35:35:96.28:1235,96,0
1 6713114 rs2235564 C T 596.01 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.05;MQ0=0;QD=37.25;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAJC11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460594 GT:AD:DP:GQ:PL 1/1:0,16:16:48.13:629,48,0
1 6727925 rs114473801 C T 105.91 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=2.383;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.866;QD=10.59;ReadPosRankSum=0.633;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAJC11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465911 GT:AD:DP:GQ:PL 0/1:6,4:10:99:136,0,168
1 7202190 rs970973 T C 673.07 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAMTA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303635 GT:AD:DP:GQ:PL 1/1:0,23:23:51.17:706,51,0
1 7527838 rs182018941 C T 1030.01 PASS AB=0.397;AC=1;AF=0.50;AN=2;BaseQRankSum=3.05;DB;DP=58;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.5784;MQ=59.68;MQ0=0;MQRankSum=-0.594;QD=17.76;ReadPosRankSum=0.642;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAMTA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303635 GT:AD:DP:GQ:PL 0/1:23,35:58:99:1060,0,700
1 7700352 rs4072987 G C 56.58 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=2.383;DB;DP=10;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.365;QD=5.66;ReadPosRankSum=-0.741;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAMTA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303635 GT:AD:DP:GQ:PL 0/1:4,6:10:86.57:87,0,121
1 7700353 rs34766132 G A 56.57 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.866;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.741;QD=5.66;ReadPosRankSum=-0.741;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAMTA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303635 GT:AD:DP:GQ:PL 0/1:4,6:10:86.57:87,0,144
1 7700674 rs12743421 C T 92.20 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=2.758;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.919;QD=6.59;ReadPosRankSum=-0.778;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAMTA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303635 GT:AD:DP:GQ:PL 0/1:10,4:14:99:122,0,277
1 7723534 rs3737907 G A 709.40 PASS AB=0.541;AC=1;AF=0.50;AN=2;BaseQRankSum=1.403;DB;DP=61;Dels=0.0;FS=5.855;HRun=0;HaplotypeScore=0.9987;MQ=60.0;MQ0=0;MQRankSum=-0.438;QD=11.63;ReadPosRankSum=-1.242;SNPEFF_AMINO_ACID_CHANGE=S309;SNPEFF_CODON_CHANGE=tcG/tcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_7723413_7725259;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAMTA1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000303635 GT:AD:DP:GQ:PL 0/1:33,28:61:99:739,0,949
1 7723957 rs12128526 G A 481.27 PASS AB=0.611;AC=1;AF=0.50;AN=2;BaseQRankSum=1.49;DB;DP=54;Dels=0.0;FS=2.45;HRun=0;HaplotypeScore=1.4538;MQ=59.14;MQ0=0;MQRankSum=-1.666;QD=8.91;ReadPosRankSum=1.354;SNPEFF_AMINO_ACID_CHANGE=S450;SNPEFF_CODON_CHANGE=tcG/tcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_7723413_7725259;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAMTA1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000303635 GT:AD:DP:GQ:PL 0/1:33,21:54:99:511,0,869
1 7725122 . G A 377.21 PASS AB=0.611;AC=1;AF=0.50;AN=2;BaseQRankSum=1.412;DP=36;Dels=0.0;FS=8.481;HRun=0;HaplotypeScore=1.9681;MQ=59.48;MQ0=0;MQRankSum=-0.795;QD=10.48;ReadPosRankSum=-0.471;SNPEFF_AMINO_ACID_CHANGE=G839R;SNPEFF_CODON_CHANGE=Ggg/Agg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_7723413_7725259;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAMTA1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000303635 GT:AD:DP:GQ:PL 0/1:22,14:36:99:407,0,671
1 7730879 rs72853807 C T 496.70 PASS AB=0.486;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.248;DB;DP=35;Dels=0.0;FS=6.41;HRun=0;HaplotypeScore=0.0;MQ=57.44;MQ0=0;MQRankSum=-0.116;QD=14.19;ReadPosRankSum=1.205;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAMTA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303635 GT:AD:DP:GQ:PL 0/1:17,18:35:99:527,0,576
1 7737651 rs41278946 G A 1877.48 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=0.128;DB;DP=121;Dels=0.0;FS=8.483;HRun=0;HaplotypeScore=0.0;MQ=59.66;MQ0=0;MQRankSum=-0.757;QD=15.52;ReadPosRankSum=1.819;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAMTA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303635 GT:AD:DP:GQ:PL 0/1:55,66:121:99:1907,0,1533
1 7737799 rs3011926 A G 326.91 PASS AB=0.458;AC=1;AF=0.50;AN=2;BaseQRankSum=0.154;DB;DP=24;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.585;QD=13.62;ReadPosRankSum=-0.154;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAMTA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303635 GT:AD:DP:GQ:PL 0/1:11,13:24:99:357,0,386
1 7797734 rs1417986 T A 66.86 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.55;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.55;QD=9.55;ReadPosRankSum=0.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAMTA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303635 GT:AD:DP:GQ:PL 0/1:3,4:7:96.85:97,0,100
1 7805208 rs2071986 G T 31.91 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9734;MQ=60.0;MQ0=0;MQRankSum=-0.72;QD=5.32;ReadPosRankSum=0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAMTA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303635 GT:AD:DP:GQ:PL 0/1:4,2:6:61.90:62,0,141
1 7807897 rs12133253 A G 696.10 PASS AB=0.372;AC=1;AF=0.50;AN=2;BaseQRankSum=0.583;DB;DP=43;Dels=0.0;FS=6.338;HRun=1;HaplotypeScore=0.8941;MQ=59.61;MQ0=0;MQRankSum=0.816;QD=16.19;ReadPosRankSum=-0.039;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAMTA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303635 GT:AD:DP:GQ:PL 0/1:16,27:43:99:726,0,523
1 7811014 rs1573753 G A 71.22 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.537;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=11.87;ReadPosRankSum=1.537;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAMTA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303635 GT:AD:DP:GQ:PL 0/1:3,3:6:97.54:101,0,98
1 7811215 rs10779689 A G 2682.44 PASS AB=0.53;AC=1;AF=0.50;AN=2;BaseQRankSum=-9.091;DB;DP=230;Dels=0.0;FS=3.217;HRun=1;HaplotypeScore=2.3002;MQ=59.3;MQ0=0;MQRankSum=0.5;QD=11.66;ReadPosRankSum=2.749;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAMTA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303635 GT:AD:DP:GQ:PL 0/1:122,108:230:99:2712,0,3943
1 7812398 rs9919223 A G 140.27 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.093;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.811;QD=10.79;ReadPosRankSum=-0.935;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAMTA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303635 GT:AD:DP:GQ:PL 0/1:6,7:13:99:170,0,193
1 7815554 rs12408963 G A 409.24 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=3.325;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.171;QD=22.74;ReadPosRankSum=1.171;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAMTA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303635 GT:AD:DP:GQ:PL 0/1:6,12:18:99:439,0,162
1 7826347 rs697672 C T 161.45 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.29;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAMTA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303635 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:194,15,0
1 7833485 rs11576572 G A 702.91 PASS AB=0.51;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.25;DB;DP=49;Dels=0.0;FS=9.329;HRun=0;HaplotypeScore=0.9967;MQ=60.0;MQ0=0;MQRankSum=-1.29;QD=14.35;ReadPosRankSum=0.13;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VAMP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000054666 GT:AD:DP:GQ:PL 0/1:25,24:49:99:733,0,728
1 7845695 rs228729 T C 442.29 PASS AB=0.44;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.068;DB;DP=25;Dels=0.0;FS=2.054;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.246;QD=17.69;ReadPosRankSum=0.849;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VAMP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000054666 GT:AD:DP:GQ:PL 0/1:11,14:25:99:472,0,287
1 7847362 rs35115980 C CT 257.88 PASS AC=2;AF=1.00;AN=2;DB;DP=8;FS=0.0;HRun=6;HaplotypeScore=16.2136;IndelType=I;MQ=61.34;MQ0=0;QD=32.23;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PER3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361923 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:300,24,0
1 7847529 rs2859390 A G 337.56 PASS AB=0.567;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.335;DB;DP=30;Dels=0.0;FS=14.824;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.088;QD=11.25;ReadPosRankSum=-1.59;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PER3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361923 GT:AD:DP:GQ:PL 0/1:17,13:30:99:368,0,624
1 7847614 rs697685 G A 118.31 PASS AB=0.684;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.201;DB;DP=19;Dels=0.0;FS=5.006;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.921;QD=6.23;ReadPosRankSum=-2.149;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PER3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361923 GT:AD:DP:GQ:PL 0/1:13,6:19:99:148,0,503
1 7858925 rs228686 T C 35.68 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.84;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PER3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361923 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:67,6,0
1 7861153 rs34433622 C CT 1221.63 PASS AB=0.663;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.743;DB;DP=69;FS=0.0;HRun=3;HaplotypeScore=156.9027;IndelType=I;MQ=60.31;MQ0=0;MQRankSum=-1.902;QD=17.7;ReadPosRankSum=0.93;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PER3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361923 GT:AD:DP:GQ:PL 0/1:34,35:69:99:1261,0,1017
1 7861304 rs707465 T C 856.24 PASS AB=0.418;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.66;DB;DP=55;Dels=0.0;FS=8.814;HRun=0;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=-0.162;QD=15.57;ReadPosRankSum=0.401;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PER3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361923 GT:AD:DP:GQ:PL 0/1:23,32:55:99:886,0,760
1 7861345 rs488728 G A 248.96 PASS AB=0.654;AC=1;AF=0.50;AN=2;BaseQRankSum=0.916;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9999;MQ=60.0;MQ0=0;MQRankSum=-1.132;QD=9.58;ReadPosRankSum=1.186;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PER3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361923 GT:AD:DP:GQ:PL 0/1:17,9:26:99:279,0,612
1 7863051 rs72632072 A T 767.07 PASS AB=0.395;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.448;DB;DP=43;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.498;MQ=58.92;MQ0=0;MQRankSum=-0.868;QD=17.84;ReadPosRankSum=-0.686;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PER3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361923 GT:AD:DP:GQ:PL 0/1:17,26:43:99:797,0,541
1 7863293 rs228642 C T 283.72 PASS AB=0.593;AC=1;AF=0.50;AN=2;BaseQRankSum=3.084;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9992;MQ=60.0;MQ0=0;MQRankSum=1.357;QD=10.51;ReadPosRankSum=-1.406;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PER3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361923 GT:AD:DP:GQ:PL 0/1:16,11:27:99:314,0,422
1 7869915 rs228668 G C 408 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PER3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361923 GT:AD:DP:GQ:PL 1/1:0,12:12:33.11:441,33,0
1 7870048 rs228669 T C 1268.50 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.42;MQ0=0;QD=31.71;SNPEFF_AMINO_ACID_CHANGE=S445;SNPEFF_CODON_CHANGE=agT/agC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_7869953_7870081;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PER3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000361923 GT:AD:DP:GQ:PL 1/1:0,40:40:99:1301,102,0
1 7870144 rs228670 A C 1162.82 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.32;MQ0=0;QD=34.2;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PER3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361923 GT:AD:DP:GQ:PL 1/1:0,34:34:87.29:1196,87,0
1 7880469 rs228691 A G 337.55 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=1.573;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.054;QD=21.1;ReadPosRankSum=-1.03;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PER3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361923 GT:AD:DP:GQ:PL 0/1:6,10:16:99:368,0,182
1 7887248 rs2859387 G A 375.20 PASS AB=0.634;AC=1;AF=0.50;AN=2;BaseQRankSum=1.262;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.29;MQ0=0;MQRankSum=-0.893;QD=9.15;ReadPosRankSum=0.865;SNPEFF_AMINO_ACID_CHANGE=P745;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_7887178_7887875;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PER3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000361923 GT:AD:DP:GQ:PL 0/1:26,15:41:99:405,0,699
1 7887493 rs228696 T C 3130.64 PASS AC=2;AF=1.00;AN=2;DB;DP=86;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.6651;MQ=59.73;MQ0=0;QD=36.4;SNPEFF_AMINO_ACID_CHANGE=L38P;SNPEFF_CODON_CHANGE=cTg/cCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_7887178_7887875;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PER3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000539773 GT:AD:DP:GQ:PL 1/1:0,86:86:99:3164,241,0
1 7887926 rs11590657 A G 236.76 PASS AB=0.529;AC=1;AF=0.50;AN=2;BaseQRankSum=2.454;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9999;MQ=58.9;MQ0=0;MQRankSum=0.144;QD=13.93;ReadPosRankSum=0.625;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PER3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361923 GT:AD:DP:GQ:PL 0/1:9,8:17:99:267,0,308
1 7889804 rs228701 C G 68.03 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.248;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.573;QD=7.56;ReadPosRankSum=0.573;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PER3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361923 GT:AD:DP:GQ:PL 0/1:6,3:9:98.02:98,0,226
1 7889941 rs2640908 C T 976.56 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=2.637;DB;DP=70;Dels=0.0;FS=0.936;HRun=0;HaplotypeScore=0.9832;MQ=60.0;MQ0=0;MQRankSum=1.159;QD=13.95;ReadPosRankSum=-0.378;SNPEFF_AMINO_ACID_CHANGE=T180;SNPEFF_CODON_CHANGE=acC/acT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_7889897_7890011;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PER3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000539773 GT:AD:DP:GQ:PL 0/1:33,37:70:99:1007,0,955
1 7889972 . GAGAATCCATCCCATCCTACTGCCAGCGCTCTGTCCACAGGATCGCCTCCCATGA G 437.90 PASS AB=0.907;AC=1;AF=0.50;AN=2;BaseQRankSum=3.183;DP=68;FS=2.158;HRun=0;HaplotypeScore=2530.7739;IndelType=D;MQ=61.11;MQ0=0;MQRankSum=3.183;QD=6.44;ReadPosRankSum=-0.405;SNPEFF_EFFECT=SPLICE_SITE_DONOR;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PER3;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000539773 GT:AD:DP:GQ:PL 0/1:61,7:68:99:477,0,445
1 7890064 rs12023156 A G 992.39 PASS AB=0.419;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.107;DB;DP=62;Dels=0.0;FS=0.997;HRun=2;HaplotypeScore=0.734;MQ=61.21;MQ0=0;MQRankSum=-1.334;QD=16.01;ReadPosRankSum=2.968;SNPEFF_EFFECT=SPLICE_SITE_ACCEPTOR;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PER3;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000539773 GT:AD:DP:GQ:PL 0/1:26,36:62:99:1022,0,820
1 7890264 rs1773135 A G 440.32 PASS AB=0.44;AC=1;AF=0.50;AN=2;BaseQRankSum=3.312;DB;DP=25;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9983;MQ=60.0;MQ0=0;MQRankSum=-1.396;QD=17.61;ReadPosRankSum=-0.137;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PER3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361923 GT:AD:DP:GQ:PL 0/1:11,14:25:99:470,0,353
1 7906476 rs172932 G T 1729.54 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.8455;MQ=59.55;MQ0=0;QD=33.91;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PER3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361923 GT:AD:DP:GQ:PL 1/1:0,50:50:99:1763,129,0
1 7907007 rs697694 G A 68.70 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=56.04;MQ0=0;MQRankSum=0.727;QD=11.45;ReadPosRankSum=0.727;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PER3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361923 GT:AD:DP:GQ:PL 0/1:2,4:6:28.61:99,0,29
1 7907805 rs112820691 C CT 1477.89 PASS AB=0.669;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.776;DB;DP=79;FS=0.864;HRun=1;HaplotypeScore=175.7587;IndelType=I;MQ=59.54;MQ0=0;MQRankSum=2.109;QD=18.71;ReadPosRankSum=-0.13;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PER3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361923 GT:AD:DP:GQ:PL 0/1:40,39:79:99:1517,0,1280
1 7907971 rs707473 C A 82.02 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=0.581;DB;DP=14;Dels=0.0;FS=0.0;HRun=9;HaplotypeScore=1.7552;MQ=54.85;MQ0=0;MQRankSum=-0.71;QD=5.86;ReadPosRankSum=-0.71;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PER3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361923 GT:AD:DP:GQ:PL 0/1:8,6:14:99:112,0,250
1 7913430 rs228648 G A 1304.97 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.87;MQ0=0;QD=35.27;SNPEFF_AMINO_ACID_CHANGE=T21M;SNPEFF_CODON_CHANGE=aCg/aTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_7913367_7913491;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UTS2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000054668 GT:AD:DP:GQ:PL 1/1:1,36:37:99:1338,99,0
1 7913590 rs11121035 C T 437.95 PASS AB=0.391;AC=1;AF=0.50;AN=2;BaseQRankSum=2.551;DB;DP=23;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.031;QD=19.04;ReadPosRankSum=0.157;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UTS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000054668 GT:AD:DP:GQ:PL 0/1:9,14:23:99:468,0,290
1 7995033 rs9657980 A G 213.58 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.2;DB;DP=18;Dels=0.0;FS=1.952;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.133;QD=11.87;ReadPosRankSum=0.4;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNFRSF9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000377507 GT:AD:DP:GQ:PL 0/1:8,10:18:99:244,0,241
1 7998963 rs226476 T G 1036.22 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.01;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNFRSF9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000377507 GT:AD:DP:GQ:PL 1/1:0,28:28:81.18:1069,81,0
1 8384268 rs6702047 T C 400.99 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.448;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.43;MQ0=0;MQRankSum=-1.738;QD=33.42;ReadPosRankSum=-0.869;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC45A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000377479 GT:AD:DP:GQ:PL 1/1:1,11:12:33.11:434,33,0
1 8390051 rs1473496 G A 40.14 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC45A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289877 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:71,6,0
1 8390495 rs1058619 A G 727.73 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.2;MQ0=0;QD=25.09;SNPEFF_AMINO_ACID_CHANGE=P314;SNPEFF_CODON_CHANGE=ccA/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_8390269_8390996;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC45A1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000289877 GT:AD:DP:GQ:PL 1/1:0,29:29:63.16:761,63,0
1 8390888 rs2289731 G A 590.91 PASS AB=0.558;AC=1;AF=0.50;AN=2;BaseQRankSum=2.384;DB;DP=43;Dels=0.0;FS=5.368;HRun=1;HaplotypeScore=1.97;MQ=59.03;MQ0=0;MQRankSum=1.235;QD=13.74;ReadPosRankSum=1.308;SNPEFF_AMINO_ACID_CHANGE=P445;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_8390269_8390996;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC45A1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000289877 GT:AD:DP:GQ:PL 0/1:24,19:43:99:621,0,641
1 8395441 rs2305016 T C 223.74 PASS AB=0.389;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.811;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.1968;MQ=60.0;MQ0=0;MQRankSum=-0.906;QD=12.43;ReadPosRankSum=-0.725;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC45A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289877 GT:AD:DP:GQ:PL 0/1:7,11:18:99:254,0,234
1 8404093 rs1055236 C T 759.60 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.53;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC45A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000497660 GT:AD:DP:GQ:PL 1/1:0,22:22:57.19:793,57,0
1 8404169 rs6685844 T A 135.38 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.84;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC45A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000497660 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:168,12,0
1 8424029 rs12118524 G A 114.34 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=1.754;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.55;QD=16.33;ReadPosRankSum=-1.754;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RERE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460659 GT:AD:DP:GQ:PL 0/1:3,4:7:85.39:144,0,85
1 8525913 . A G 413.28 PASS AB=0.464;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.823;DP=28;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.461;QD=14.76;ReadPosRankSum=0.967;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RERE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000337907 GT:AD:DP:GQ:PL 0/1:13,15:28:99:443,0,444
1 8526142 rs4908760 G A 416.64 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.29;MQ0=0;QD=37.88;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RERE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000337907 GT:AD:DP:GQ:PL 1/1:0,11:11:33.11:450,33,0
1 8557320 rs7518608 C G 110.88 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RERE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000337907 GT:AD:DP:GQ:PL 1/1:0,4:4:12.03:143,12,0
1 8557691 rs7530745 A C 358.69 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RERE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000337907 GT:AD:DP:GQ:PL 1/1:0,10:10:30.08:392,30,0
1 8616838 rs1473420 T G 82.87 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.62;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RERE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000337907 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:115,9,0
1 8715828 rs151112003 CAA C 181.73 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=1.92;DB;DP=8;FS=0.0;HRun=2;HaplotypeScore=24.7526;IndelType=D;MQ=61.34;MQ0=0;MQRankSum=0.684;QD=22.72;ReadPosRankSum=-0.956;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RERE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468247 GT:AD:DP:GQ:PL 0/1:3,5:8:99:221,0,159
1 8716543 rs3737670 G C 1044.96 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.7;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RERE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000337907 GT:AD:DP:GQ:PL 1/1:0,27:27:81.24:1078,81,0
1 8924282 rs1543711 A G 693.79 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.54;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ENO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464594 GT:AD:DP:GQ:PL 1/1:0,18:18:54.15:727,54,0
1 8928125 rs2071412 G T 5284.79 PASS AC=2;AF=1.00;AN=2;DB;DP=146;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=59.84;MQ0=0;QD=36.2;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ENO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463324 GT:AD:DP:GQ:PL 1/1:0,146:146:99:5285,400,0
1 8930369 rs2781060 T C 158.42 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.68;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ENO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463324 GT:AD:DP:GQ:PL 1/1:0,5:5:15.04:191,15,0
1 8930385 rs2765511 G A 204.01 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.14;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ENO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463324 GT:AD:DP:GQ:PL 1/1:0,7:7:18.06:237,18,0
1 8930606 rs56193077 C G 217.29 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.318;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.55;MQ0=0;MQRankSum=1.164;QD=13.58;ReadPosRankSum=1.482;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ENO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463324 GT:AD:DP:GQ:PL 0/1:9,7:16:99:247,0,249
1 8935149 rs2038904 A G 89.85 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.95;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ENO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234590 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:122,9,0
1 9017091 rs2274332 C T 31.86 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=15.93;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CA6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000480186 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:63,6,0
1 9031263 . G A 48.57 PASS AC=2;AF=1.00;AN=2;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.28;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CA6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475703 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:80,6,0
1 9034421 rs3765964 G A 140.26 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.067;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9947;MQ=57.63;MQ0=0;MQRankSum=-1.067;QD=17.53;ReadPosRankSum=0.572;SNPEFF_AMINO_ACID_CHANGE=G287E;SNPEFF_CODON_CHANGE=gGg/gAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_9034406_9034503;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CA6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000377436 GT:AD:DP:GQ:PL 0/1:2,6:8:62.40:170,0,62
1 9034598 rs3765963 A G 193.95 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.299;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.33;MQ0=0;MQRankSum=0.299;QD=13.85;ReadPosRankSum=1.276;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CA6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000377436 GT:AD:DP:GQ:PL 0/1:7,7:14:99:224,0,229
1 9064609 rs111448504 AG A 317.97 PASS AB=0.542;AC=1;AF=0.50;AN=2;BaseQRankSum=2.073;DB;DP=13;FS=8.129;HRun=4;HaplotypeScore=34.7107;IndelType=D;MQ=60.0;MQ0=0;MQRankSum=-1.678;QD=24.46;ReadPosRankSum=-0.691;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC2A7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000400906 GT:AD:DP:GQ:PL 0/1:2,11:13:44.96:357,0,45
1 9067142 rs6672506 G A 129.45 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC2A7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000400906 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:162,12,0
1 9084924 rs2027222 T C 187.58 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=1.589;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.05;MQ0=0;MQRankSum=-0.572;QD=23.45;ReadPosRankSum=-1.067;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC2A7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000400906 GT:AD:DP:GQ:PL 0/1:2,6:8:50.28:218,0,50
1 9305445 rs34603401 A C 980.41 PASS AB=0.452;AC=1;AF=0.50;AN=2;BaseQRankSum=4.262;DB;DP=64;Dels=0.0;FS=9.099;HRun=1;HaplotypeScore=3.2336;MQ=59.64;MQ0=0;MQRankSum=-1.093;QD=15.32;ReadPosRankSum=-0.644;SNPEFF_AMINO_ACID_CHANGE=D151A;SNPEFF_CODON_CHANGE=gAc/gCc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_9304984_9305620;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=H6PD;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000377403 GT:AD:DP:GQ:PL 0/1:28,34:64:99:1010,0,858
1 9306849 rs2310925 T C 159.12 PASS AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=26.52;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=H6PD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000377403 GT:AD:DP:GQ:PL 0/1:1,5:6:22.59:189,0,23
1 9307033 rs7524046 G A 850.54 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.509;DB;DP=62;Dels=0.0;FS=2.1;HRun=0;HaplotypeScore=0.7887;MQ=59.63;MQ0=0;MQRankSum=1.257;QD=13.72;ReadPosRankSum=-0.902;SNPEFF_AMINO_ACID_CHANGE=A212;SNPEFF_CODON_CHANGE=gcG/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_9307025_9307142;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=H6PD;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000377403 GT:AD:DP:GQ:PL 0/1:31,31:62:99:881,0,810
1 9307138 rs11121350 T C 489.83 PASS AB=0.488;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.25;DB;DP=41;Dels=0.0;FS=5.108;HRun=1;HaplotypeScore=1.445;MQ=60.0;MQ0=0;MQRankSum=1.138;QD=11.95;ReadPosRankSum=-2.465;SNPEFF_AMINO_ACID_CHANGE=A247;SNPEFF_CODON_CHANGE=gcT/gcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_9307025_9307142;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=H6PD;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000377403 GT:AD:DP:GQ:PL 0/1:20,21:41:99:520,0,495
1 9307230 rs12032814 T A 93.89 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.977;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.38;QD=7.82;ReadPosRankSum=-1.134;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=H6PD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000377403 GT:AD:DP:GQ:PL 0/1:7,5:12:99:124,0,255
1 9323910 rs6688832 G A 872.88 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=4.139;DB;DP=52;Dels=0.0;FS=1.225;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=0.578;QD=16.79;ReadPosRankSum=-0.817;SNPEFF_AMINO_ACID_CHANGE=R453Q;SNPEFF_CODON_CHANGE=cGg/cAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_9323568_9331396;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=H6PD;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000377403 GT:AD:DP:GQ:PL 0/1:24,28:52:99:903,0,729
1 9416346 rs3795309 C T 395.18 PASS AB=0.567;AC=1;AF=0.50;AN=2;BaseQRankSum=1.031;DB;DP=30;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9832;MQ=60.0;MQ0=0;MQRankSum=-0.68;QD=13.17;ReadPosRankSum=0.767;SNPEFF_AMINO_ACID_CHANGE=L132;SNPEFF_CODON_CHANGE=ctC/ctT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_9415802_9416644;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPSB1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000328089 GT:AD:DP:GQ:PL 0/1:17,13:30:99:425,0,508
1 9627563 rs146265200 T C 88.42 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.47;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC25A33;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302692 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:120,9,0
1 9658465 rs9430181 T G 423.21 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7262;MQ=60.0;MQ0=0;QD=26.45;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM201;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340305 GT:AD:DP:GQ:PL 1/1:0,16:16:36.10:456,36,0
1 9658707 rs9430182 G A 480.99 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.23;MQ0=0;QD=28.29;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM201;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340305 GT:AD:DP:GQ:PL 1/1:0,17:17:39.13:514,39,0
1 9661061 rs9430184 A G 300.46 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=55.21;MQ0=0;QD=30.05;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM201;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340305 GT:AD:DP:GQ:PL 1/1:0,10:10:27.07:333,27,0
1 9670483 rs4244632 T A 880.68 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.99;MQ0=0;QD=38.29;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM201;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000510900 GT:AD:DP:GQ:PL 1/1:0,23:23:69.22:914,69,0
1 9670834 rs4926472 C T 122.52 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.5;SNPEFF_AMINO_ACID_CHANGE=P555L;SNPEFF_CODON_CHANGE=cCg/cTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_9670564_9670863;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM201;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000377376 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:155,12,0
1 9770690 rs34885574 CAG C 146.32 PASS AB=0.867;AC=1;AF=0.50;AN=2;BaseQRankSum=3.004;DB;DP=52;FS=3.647;HRun=0;HaplotypeScore=181.9435;IndelType=D;MQ=59.85;MQ0=0;MQRankSum=0.945;QD=2.81;ReadPosRankSum=-0.147;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIK3CD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360563 GT:AD:DP:GQ:PL 0/1:44,8:52:99:185,0,1067
1 9777451 rs34287026 G GGA 239.43 PASS AC=2;AF=1.00;AN=2;DB;DP=5;FS=0.0;HRun=0;HaplotypeScore=10.6458;IndelType=I;MQ=60.0;MQ0=0;QD=47.89;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIK3CD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481137 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:281,15,0
1 9777599 rs61755420 C G 62.26 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.669;DB;DP=18;Dels=0.0;FS=9.901;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.796;QD=3.46;ReadPosRankSum=-1.452;SNPEFF_AMINO_ACID_CHANGE=S277C;SNPEFF_CODON_CHANGE=tCc/tGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_9777595_9777684;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIK3CD;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000360563 GT:AD:DP:GQ:PL 0/1:12,6:18:92.26:92,0,416
1 9781412 rs12735071 C G 771.51 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.86;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIK3CD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479223 GT:AD:DP:GQ:PL 1/1:0,25:25:66.19:805,66,0
1 9782556 rs11589267 C T 1204.74 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.47;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIK3CD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479223 GT:AD:DP:GQ:PL 1/1:0,36:36:93.29:1238,93,0
1 9790995 rs10779729 A G 31.76 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=15.88;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIK3CD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360563 GT:AD:DP:GQ:PL 1/1:0,2:2:6:63,6,0
1 9816620 rs6680090 T C 1142.32 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.83;MQ0=0;QD=31.73;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLSTN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361311 GT:AD:DP:GQ:PL 1/1:0,36:36:96.28:1175,96,0
1 10335315 rs6685773 G A 43.42 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=47.12;MQ0=0;QD=21.71;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263934 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:75,6,0
1 10357206 rs58344165 AT A 113.66 QDFilter2 AB=0.76;AC=1;AF=0.50;AN=2;BaseQRankSum=0.033;DB;DP=98;FS=1.209;HRun=17;HaplotypeScore=589.8898;IndelType=D;MQ=54.63;MQ0=0;MQRankSum=1.563;QD=1.16;ReadPosRankSum=-0.53;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000497835 GT:AD:DP:GQ:PL 0/1:61,26:98:99:153,0,763
1 10435444 . G T 774.47 PASS AB=0.442;AC=1;AF=0.50;AN=2;BaseQRankSum=2.745;DP=52;Dels=0.0;FS=1.47;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.792;QD=14.89;ReadPosRankSum=-0.884;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263934 GT:AD:DP:GQ:PL 0/1:23,29:52:99:804,0,673
1 10502307 rs113274432 AT A 2044.91 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.732;DB;DP=87;FS=0.0;HRun=10;HaplotypeScore=308.4834;IndelType=D;MQ=59.95;MQ0=0;MQRankSum=1.69;QD=23.5;ReadPosRankSum=0.856;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=APITD1-CORT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000400900 GT:AD:DP:GQ:PL 1/1:4,82:87:99:2087,219,0
1 10511544 rs628462 C T 390.17 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.61;DB;DP=36;Dels=0.0;FS=3.018;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.289;QD=10.84;ReadPosRankSum=-1.348;SNPEFF_AMINO_ACID_CHANGE=A120;SNPEFF_CODON_CHANGE=gcC/gcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_10511434_10511955;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CORT;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000320498 GT:AD:DP:GQ:PL 0/1:21,15:36:99:420,0,673
1 10511589 rs666103 T C 599.67 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.56;SNPEFF_AMINO_ACID_CHANGE=S135;SNPEFF_CODON_CHANGE=tcT/tcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_10511434_10511955;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CORT;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000320498 GT:AD:DP:GQ:PL 1/1:0,21:21:54.12:633,54,0
1 10523728 . CT C 167.67 PASS AB=0.727;AC=1;AF=0.50;AN=2;BaseQRankSum=0.318;DP=32;FS=0.0;HRun=12;HaplotypeScore=116.8758;IndelType=D;MQ=57.05;MQ0=0;MQRankSum=-0.26;QD=5.24;ReadPosRankSum=2.05;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DFFA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000377036 GT:AD:DP:GQ:PL 0/1:20,12:32:99:207,0,277
1 10529194 rs2781233 T C 452.76 PASS AB=0.531;AC=1;AF=0.50;AN=2;BaseQRankSum=1.561;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.482;QD=14.15;ReadPosRankSum=-1.008;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DFFA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000377036 GT:AD:DP:GQ:PL 0/1:17,15:32:99:483,0,484
1 10555257 rs622623 C T 643.68 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.18;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PEX14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356607 GT:AD:DP:GQ:PL 1/1:0,20:20:51.15:677,51,0
1 10596341 rs12375 C T 689.99 PASS AB=0.447;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.503;DB;DP=47;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=-0.546;QD=14.68;ReadPosRankSum=-0.032;SNPEFF_AMINO_ACID_CHANGE=F52;SNPEFF_CODON_CHANGE=ttC/ttT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_10596270_10596354;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PEX14;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000356607 GT:AD:DP:GQ:PL 0/1:21,26:47:99:720,0,631
1 10596388 rs2480779 A G 915.02 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.13;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PEX14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000492696 GT:AD:DP:GQ:PL 1/1:0,24:24:69.23:948,69,0
1 10596530 rs2480778 A G 81.43 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.14;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PEX14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000492696 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:113,9,0
1 10689942 rs11539794 G T 577.34 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.07;SNPEFF_AMINO_ACID_CHANGE=G280;SNPEFF_CODON_CHANGE=ggG/ggT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_10689588_10690372;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PEX14;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000538836 GT:AD:DP:GQ:PL 1/1:1,17:18:48.15:610,48,0
1 11080723 rs79500514 T TG 370.24 PASS AB=0.676;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.627;DB;DP=23;FS=0.0;HRun=2;HaplotypeScore=47.0884;IndelType=I;MQ=58.45;MQ0=0;MQRankSum=-0.46;QD=16.1;ReadPosRankSum=0.525;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TARDBP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472476 GT:AD:DP:GQ:PL 0/1:12,11:23:99:409,0,343
1 11082054 rs3835416 AG A 191.83 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=0.742;DB;DP=7;FS=0.0;HRun=1;HaplotypeScore=16.612;IndelType=D;MQ=60.0;MQ0=0;MQRankSum=0.742;QD=27.4;ReadPosRankSum=0.742;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MASP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000400897 GT:AD:DP:GQ:PL 0/1:1,6:7:26.94:231,0,27
1 11086097 rs3215616 A AT 1028.29 PASS AB=0.705;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.515;DB;DP=67;FS=3.573;HRun=1;HaplotypeScore=148.0073;IndelType=I;MQ=59.47;MQ0=0;MQRankSum=0.643;QD=15.35;ReadPosRankSum=1.089;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MASP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000400897 GT:AD:DP:GQ:PL 0/1:39,28:67:99:1067,0,1210
1 11086332 rs2273347 A G 87.29 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.1;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MASP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000400897 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:119,9,0
1 11087524 rs1782455 G A 1190.96 PASS AB=0.547;AC=1;AF=0.50;AN=2;BaseQRankSum=3.763;DB;DP=95;Dels=0.0;FS=6.745;HRun=0;HaplotypeScore=0.0;MQ=59.76;MQ0=0;MQRankSum=-0.151;QD=12.54;ReadPosRankSum=-0.181;SNPEFF_AMINO_ACID_CHANGE=S493;SNPEFF_CODON_CHANGE=tcC/tcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_11086580_11087705;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MASP2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000400897 GT:AD:DP:GQ:PL 0/1:52,43:95:99:1221,0,1489
1 11090916 rs12711521 C A 372.17 PASS AB=0.586;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.812;DB;DP=29;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.302;QD=12.83;ReadPosRankSum=0.812;SNPEFF_AMINO_ACID_CHANGE=D371Y;SNPEFF_CODON_CHANGE=Gat/Tat;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_11090805_11090939;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MASP2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000400897 GT:AD:DP:GQ:PL 0/1:17,12:29:99:402,0,576
1 11105106 rs2273345 C T 39.27 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.95;MQ0=0;MQRankSum=1.026;QD=9.82;ReadPosRankSum=-1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MASP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000400897 GT:AD:DP:GQ:PL 0/1:2,2:4:55.89:69,0,56
1 11105122 rs2273344 C T 40.01 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.95;MQ0=0;MQRankSum=0.0;QD=10.0;ReadPosRankSum=-1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MASP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000400897 GT:AD:DP:GQ:PL 0/1:2,2:4:27.10:70,0,27
1 11119135 rs743577 G A 199.18 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=1.222;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.66;MQ0=0;MQRankSum=0.0;QD=14.23;ReadPosRankSum=0.715;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SRM;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000376957 GT:AD:DP:GQ:PL 0/1:6,8:14:99:229,0,160
1 11119899 rs7545802 T C 266.64 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.66;SNPEFF_AMINO_ACID_CHANGE=S34;SNPEFF_CODON_CHANGE=tcA/tcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_11119834_11120081;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SRM;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000376957 GT:AD:DP:GQ:PL 1/1:0,10:10:24.07:300,24,0
1 11126941 rs6701726 C T 168.88 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=2.281;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9998;MQ=60.0;MQ0=0;MQRankSum=-0.101;QD=12.06;ReadPosRankSum=0.935;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EXOSC10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469634 GT:AD:DP:GQ:PL 0/1:6,8:14:99:199,0,170
1 11128001 rs2791657 A G 47.74 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.243;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.91;QD=2.98;ReadPosRankSum=0.182;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EXOSC10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469634 GT:AD:DP:GQ:PL 0/1:12,4:16:77.74:78,0,393
1 11128654 rs2791655 G A 392.96 PASS AB=0.634;AC=1;AF=0.50;AN=2;BaseQRankSum=2.801;DB;DP=41;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=59.54;MQ0=0;MQRankSum=-0.203;QD=9.58;ReadPosRankSum=0.961;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EXOSC10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469634 GT:AD:DP:GQ:PL 0/1:26,15:41:99:423,0,808
1 11129434 rs2748878 T C 506.45 PASS AB=0.37;AC=1;AF=0.50;AN=2;BaseQRankSum=2.134;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9867;MQ=59.14;MQ0=0;MQRankSum=1.431;QD=18.76;ReadPosRankSum=0.427;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EXOSC10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470611 GT:AD:DP:GQ:PL 0/1:10,17:27:99:536,0,287
1 11129437 rs2748877 T C 512.63 PASS AB=0.437;AC=1;AF=0.50;AN=2;BaseQRankSum=1.88;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9867;MQ=59.28;MQ0=0;MQRankSum=1.045;QD=16.02;ReadPosRankSum=1.121;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EXOSC10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470611 GT:AD:DP:GQ:PL 0/1:14,18:32:99:543,0,414
1 11129848 rs2791653 A G 1563.59 PASS AB=0.457;AC=1;AF=0.50;AN=2;BaseQRankSum=4.59;DB;DP=93;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.5101;MQ=59.75;MQ0=0;MQRankSum=-0.647;QD=16.81;ReadPosRankSum=-1.838;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EXOSC10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470611 GT:AD:DP:GQ:PL 0/1:42,50:93:99:1594,0,1190
1 11132217 rs1130683 G A 1254.13 PASS AB=0.368;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.287;DB;DP=76;Dels=0.0;FS=14.998;HRun=1;HaplotypeScore=1.4679;MQ=59.39;MQ0=0;MQRankSum=-0.921;QD=16.5;ReadPosRankSum=-0.242;SNPEFF_AMINO_ACID_CHANGE=R698;SNPEFF_CODON_CHANGE=cgC/cgT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_11132144_11132228;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EXOSC10;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000304457 GT:AD:DP:GQ:PL 0/1:28,48:76:99:1284,0,842
1 11134157 rs2748876 T G 103.86 PASS AB=0.632;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.989;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.999;MQ=60.0;MQ0=0;MQRankSum=-0.906;QD=5.47;ReadPosRankSum=-0.362;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EXOSC10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470611 GT:AD:DP:GQ:PL 0/1:12,7:19:99:134,0,406
1 11137778 rs2259886 C T 280.84 PASS AB=0.45;AC=1;AF=0.50;AN=2;BaseQRankSum=3.419;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=0.076;QD=14.04;ReadPosRankSum=-0.228;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EXOSC10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472078 GT:AD:DP:GQ:PL 0/1:9,11:20:99:311,0,234
1 11140621 rs58972264 ACACAC A 524.23 PASS AB=0.698;AC=1;AF=0.50;AN=2;BaseQRankSum=2.978;DB;DP=30;FS=2.378;HRun=0;HaplotypeScore=221.097;IndelType=D;MQ=51.42;MQ0=0;MQRankSum=0.87;QD=17.47;ReadPosRankSum=1.186;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EXOSC10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485606 GT:AD:DP:GQ:PL 0/1:17,10:30:99:563,0,256
1 11141187 rs2258621 C G 571.99 PASS AB=0.569;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.436;DB;DP=52;Dels=0.0;FS=2.605;HRun=2;HaplotypeScore=0.0;MQ=59.56;MQ0=0;MQRankSum=1.456;QD=11.0;ReadPosRankSum=0.831;SNPEFF_AMINO_ACID_CHANGE=P463;SNPEFF_CODON_CHANGE=ccG/ccC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_11141139_11141295;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EXOSC10;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000304457 GT:AD:DP:GQ:PL 0/1:29,22:52:99:602,0,883
1 11150754 rs113194852 C T 480.63 PASS AB=0.579;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.858;DB;DP=38;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.197;QD=12.65;ReadPosRankSum=-3.119;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EXOSC10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460196 GT:AD:DP:GQ:PL 0/1:22,16:38:99:511,0,747
1 11181327 rs11121691 C T 618.48 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.007;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.304;QD=19.33;ReadPosRankSum=0.912;SNPEFF_AMINO_ACID_CHANGE=L2303;SNPEFF_CODON_CHANGE=ctG/ctA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_11181303_11181425;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTOR;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000361445 GT:AD:DP:GQ:PL 0/1:12,20:32:99:648,0,403
1 11187893 rs1770344 T C 3473.30 PASS AC=2;AF=1.00;AN=2;DB;DP=95;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.56;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTOR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000495435 GT:AD:DP:GQ:PL 1/1:0,95:95:99:3473,259,0
1 11190646 rs2275527 G A 366.52 PASS AB=0.486;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.397;DB;DP=35;Dels=0.0;FS=5.76;HRun=0;HaplotypeScore=0.9867;MQ=60.0;MQ0=0;MQRankSum=0.121;QD=10.47;ReadPosRankSum=0.466;SNPEFF_AMINO_ACID_CHANGE=S1851;SNPEFF_CODON_CHANGE=agC/agT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_11190586_11190834;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTOR;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000361445 GT:AD:DP:GQ:PL 0/1:17,18:35:99:397,0,453
1 11205058 rs1057079 C T 995.35 PASS AB=0.57;AC=1;AF=0.50;AN=2;BaseQRankSum=1.823;DB;DP=86;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=3.343;MQ=59.73;MQ0=0;MQRankSum=-0.113;QD=11.57;ReadPosRankSum=-1.055;SNPEFF_AMINO_ACID_CHANGE=A1577;SNPEFF_CODON_CHANGE=gcG/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_11205025_11205102;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTOR;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000361445 GT:AD:DP:GQ:PL 0/1:49,37:86:99:1025,0,1334
1 11288618 rs4845985 G A 203.71 PASS AB=0.529;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.529;DB;DP=17;Dels=0.0;FS=3.59;HRun=0;HaplotypeScore=0.9665;MQ=58.63;MQ0=0;MQRankSum=0.318;QD=11.98;ReadPosRankSum=0.106;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTOR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361445 GT:AD:DP:GQ:PL 0/1:9,8:17:99:234,0,309
1 11288633 rs4845986 G C 217.42 PASS AB=0.524;AC=1;AF=0.50;AN=2;BaseQRankSum=2.127;DB;DP=21;Dels=0.0;FS=5.454;HRun=0;HaplotypeScore=0.0;MQ=58.89;MQ0=0;MQRankSum=-0.076;QD=10.35;ReadPosRankSum=1.519;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTOR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361445 GT:AD:DP:GQ:PL 0/1:11,10:21:99:247,0,342
1 11288758 rs1064261 G A 218.25 PASS AB=0.719;AC=1;AF=0.50;AN=2;BaseQRankSum=1.501;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9867;MQ=60.0;MQ0=0;MQRankSum=-0.718;QD=6.82;ReadPosRankSum=-0.196;SNPEFF_AMINO_ACID_CHANGE=N999;SNPEFF_CODON_CHANGE=aaC/aaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_11288725_11288975;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTOR;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000361445 GT:AD:DP:GQ:PL 0/1:23,9:32:99:248,0,658
1 11289161 rs2076655 G A 113.20 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.38;QD=18.87;ReadPosRankSum=-1.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTOR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361445 GT:AD:DP:GQ:PL 0/1:2,4:6:68.52:143,0,69
1 11292666 rs10864495 T A 183.34 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.588;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.164;QD=11.46;ReadPosRankSum=1.376;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTOR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361445 GT:AD:DP:GQ:PL 0/1:9,7:16:99:213,0,317
1 11293200 rs7541998 C T 525.65 PASS AB=0.489;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.874;DB;DP=45;Dels=0.0;FS=2.837;HRun=0;HaplotypeScore=0.9665;MQ=60.0;MQ0=0;MQRankSum=-0.613;QD=11.68;ReadPosRankSum=0.743;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTOR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361445 GT:AD:DP:GQ:PL 0/1:22,23:45:99:556,0,638
1 11293959 rs11121704 C T 65.06 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.537;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9578;MQ=60.0;MQ0=0;MQRankSum=-0.988;QD=10.84;ReadPosRankSum=0.406;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTOR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361445 GT:AD:DP:GQ:PL 0/1:3,3:6:95.06:95,0,107
1 11294474 rs718206 T A 169.27 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.016;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.577;MQ=60.0;MQ0=0;MQRankSum=1.493;QD=12.09;ReadPosRankSum=-1.093;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTOR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361445 GT:AD:DP:GQ:PL 0/1:6,7:14:99:199,0,219
1 11301714 rs1135172 A G 1377.62 PASS AB=0.425;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.097;DB;DP=87;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=59.25;MQ0=0;MQRankSum=0.486;QD=15.83;ReadPosRankSum=-0.617;SNPEFF_AMINO_ACID_CHANGE=D479;SNPEFF_CODON_CHANGE=gaT/gaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_11301610_11301738;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTOR;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000361445 GT:AD:DP:GQ:PL 0/1:37,50:87:99:1408,0,1056
1 11318763 rs2076657 C G 116.23 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=1.495;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.198;QD=16.6;ReadPosRankSum=0.922;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTOR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361445 GT:AD:DP:GQ:PL 0/1:2,5:7:59.05:146,0,59
1 11319587 rs4845988 A G 205.50 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.48;DB;DP=10;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.271;QD=20.55;ReadPosRankSum=-0.48;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTOR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361445 GT:AD:DP:GQ:PL 0/1:2,8:10:58.15:235,0,58
1 11562276 rs2076465 C T 214.71 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.78;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PTCHD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294484 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:248,18,0
1 11574366 rs10864515 C G 673.62 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.08;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PTCHD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294484 GT:AD:DP:GQ:PL 1/1:0,21:21:51.17:707,51,0
1 11575260 rs17036947 G T 85.86 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.62;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PTCHD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294484 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:118,9,0
1 11575331 rs41274530 A G 359.54 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.96;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PTCHD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294484 GT:AD:DP:GQ:PL 1/1:0,12:12:30.09:393,30,0
1 11579344 rs2072995 G A 1594.76 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.54;MQ0=0;QD=31.9;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PTCHD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294484 GT:AD:DP:GQ:PL 1/1:1,49:50:99:1628,126,0
1 11579504 rs2072993 G C 2437.98 PASS AC=2;AF=1.00;AN=2;DB;DP=79;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=59.42;MQ0=0;QD=30.86;SNPEFF_AMINO_ACID_CHANGE=G661A;SNPEFF_CODON_CHANGE=gGc/gCc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_11579412_11579560;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PTCHD2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000294484 GT:AD:DP:GQ:PL 1/1:1,78:79:99:2471,211,0
1 11584164 rs2076469 A G 336.02 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=57.87;MQ0=0;QD=30.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PTCHD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294484 GT:AD:DP:GQ:PL 1/1:0,11:11:30.09:369,30,0
1 11586585 rs2817636 C G 1058.02 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.23;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PTCHD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294484 GT:AD:DP:GQ:PL 1/1:0,35:35:93.25:1091,93,0
1 11586677 rs2745260 T C 3553.75 PASS AC=2;AF=1.00;AN=2;DB;DP=110;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.58;MQ0=0;QD=32.31;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PTCHD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294484 GT:AD:DP:GQ:PL 1/1:0,110:110:99:3554,280,0
1 11589449 rs2817630 A T 63.40 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.55;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9578;MQ=60.0;MQ0=0;MQRankSum=0.55;QD=9.06;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PTCHD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294484 GT:AD:DP:GQ:PL 0/1:4,3:7:93.40:93,0,139
1 11589911 rs2076468 G A 508.89 PASS AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=2.383;DB;DP=39;Dels=0.0;FS=7.476;HRun=0;HaplotypeScore=2.5975;MQ=60.0;MQ0=0;MQRankSum=1.33;QD=13.05;ReadPosRankSum=-0.219;SNPEFF_AMINO_ACID_CHANGE=P999;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_11589844_11590016;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PTCHD2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000294484 GT:AD:DP:GQ:PL 0/1:20,18:39:99:539,0,591
1 11590776 rs2244401 T A 61.13 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.851;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=55.21;MQ0=0;MQRankSum=-1.453;QD=6.11;ReadPosRankSum=0.103;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PTCHD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294484 GT:AD:DP:GQ:PL 0/1:5,5:10:91.12:91,0,177
1 11590778 rs2244400 T A 58.59 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.47;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.21;MQ0=0;MQRankSum=-1.098;QD=5.86;ReadPosRankSum=0.103;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PTCHD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294484 GT:AD:DP:GQ:PL 0/1:5,5:10:88.58:89,0,175
1 11590919 rs2244397 C A 1062.52 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=0.082;DB;DP=70;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.67;MQ0=0;MQRankSum=0.6;QD=15.18;ReadPosRankSum=1.741;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PTCHD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294484 GT:AD:DP:GQ:PL 0/1:33,37:70:99:1093,0,1080
1 11593793 rs113116961 T TGCACACACGCAC 1197.24 PASS AC=2;AF=1.00;AN=2;DB;DP=10;FS=0.0;HRun=0;HaplotypeScore=67.584;IndelType=I;MQ=49.71;MQ0=0;QD=119.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PTCHD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294484 GT:AD:DP:GQ:PL 1/1:2,4:10:27.09:1239,27,0
1 11594400 rs2235663 T C 989.71 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.35;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PTCHD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294484 GT:AD:DP:GQ:PL 1/1:0,28:28:81.25:1023,81,0
1 11595802 rs2243838 C T 154.68 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.369;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.2;MQ0=0;MQRankSum=-0.811;QD=11.9;ReadPosRankSum=-2.074;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PTCHD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294484 GT:AD:DP:GQ:PL 0/1:7,6:13:99:185,0,239
1 11708736 rs1055547 T C 123.60 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.226;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=53.5;MQ0=0;MQRankSum=0.194;QD=8.24;ReadPosRankSum=-2.517;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FBXO2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000452872 GT:AD:DP:GQ:PL 0/1:9,6:15:99:154,0,202
1 11710561 rs9614 T G 316.95 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.81;SNPEFF_AMINO_ACID_CHANGE=K118T;SNPEFF_CODON_CHANGE=aAg/aCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_11710523_11710891;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FBXO2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000354287 GT:AD:DP:GQ:PL 1/1:0,11:11:30.07:350,30,0
1 11718195 rs3125816 A G 58.38 PASS AB=0.733;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.546;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.588;QD=3.89;ReadPosRankSum=-0.326;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FBXO44;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000251546 GT:AD:DP:GQ:PL 0/1:11,4:15:88.37:88,0,390
1 11735377 rs2272982 G C 39.56 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=13.19;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FBXO6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000376753 GT:AD:DP:GQ:PL 0/1:1,2:3:32.73:70,0,33
1 11735652 rs2233025 G A 672.44 PASS AB=0.542;AC=1;AF=0.50;AN=2;BaseQRankSum=4.956;DB;DP=48;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9832;MQ=60.0;MQ0=0;MQRankSum=0.383;QD=14.01;ReadPosRankSum=1.086;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FBXO6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000376753 GT:AD:DP:GQ:PL 0/1:26,22:48:99:702,0,646
1 11735877 rs2233022 A G 305.78 PASS AB=0.645;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.723;DB;DP=31;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.5;MQ0=0;MQRankSum=1.218;QD=9.86;ReadPosRankSum=0.227;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FBXO6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000376753 GT:AD:DP:GQ:PL 0/1:20,11:31:99:336,0,718
1 11737051 rs2294638 G C 491.59 PASS AB=0.638;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.708;DB;DP=58;Dels=0.0;FS=7.424;HRun=4;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=-1.269;QD=8.48;ReadPosRankSum=1.219;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FBXO6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000376753 GT:AD:DP:GQ:PL 0/1:37,21:58:99:522,0,958
1 11740329 rs28988268 AGGCGTGAGCCAC A 1120.15 PASS AB=0.694;AC=1;AF=0.50;AN=2;BaseQRankSum=2.923;DB;DP=25;FS=3.203;HRun=0;HaplotypeScore=289.7178;IndelType=D;MQ=45.04;MQ0=0;MQRankSum=-3.724;QD=44.81;ReadPosRankSum=-0.154;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAD2L2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000235310 GT:AD:DP:GQ:PL 0/1:14,11:25:99:1159,0,2118
1 11740358 rs7417320 A G 510.10 PASS AB=0.45;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.385;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=47.82;MQ0=0;MQRankSum=2.814;QD=12.75;ReadPosRankSum=1.291;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAD2L2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000235310 GT:AD:DP:GQ:PL 0/1:18,22:40:99:540,0,491
1 11766889 rs12132907 A G 54.17 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.06;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf187;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294485 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:85,6,0
1 11772303 rs1883574 A G 571.65 PASS AB=0.514;AC=1;AF=0.50;AN=2;BaseQRankSum=0.896;DB;DP=37;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.734;MQ=59.38;MQ0=0;MQRankSum=1.626;QD=15.45;ReadPosRankSum=0.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf187;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294485 GT:AD:DP:GQ:PL 0/1:19,18:37:99:602,0,603
1 11772491 rs76390929 C A 784.96 PASS AB=0.413;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.29;DB;DP=46;Dels=0.0;FS=3.57;HRun=1;HaplotypeScore=1.7608;MQ=59.5;MQ0=0;MQRankSum=-0.178;QD=17.06;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf187;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294485 GT:AD:DP:GQ:PL 0/1:19,27:46:99:815,0,571
1 11772526 rs1883573 A G 501.46 PASS AB=0.31;AC=1;AF=0.50;AN=2;BaseQRankSum=1.877;DB;DP=29;Dels=0.0;FS=2.764;HRun=0;HaplotypeScore=0.0;MQ=59.2;MQ0=0;MQRankSum=0.9;QD=17.29;ReadPosRankSum=-1.003;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf187;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294485 GT:AD:DP:GQ:PL 0/1:9,20:29:99:531,0,284
1 11804590 rs17875987 T G 203.56 PASS AB=0.677;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.115;DB;DP=32;Dels=0.0;FS=3.645;HRun=1;HaplotypeScore=0.0;MQ=58.55;MQ0=0;MQRankSum=-0.344;QD=6.36;ReadPosRankSum=2.042;SNPEFF_AMINO_ACID_CHANGE=C10G;SNPEFF_CODON_CHANGE=Tgc/Ggc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_11804590_11804625;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGTRAP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000376627 GT:AD:DP:GQ:PL 0/1:21,10:32:99:234,0,521
1 11807426 rs12752700 C T 557.01 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.377;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=58.95;MQ0=0;MQRankSum=0.336;QD=13.93;ReadPosRankSum=-0.161;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGTRAP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000494437 GT:AD:DP:GQ:PL 0/1:20,20:40:99:587,0,662
1 11827180 rs6540995 A G 92.96 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.24;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf167;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000435090 GT:AD:DP:GQ:PL 1/1:0,4:4:12.02:125,12,0
1 11827304 rs6540996 A G 172.34 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.62;SNPEFF_AMINO_ACID_CHANGE=P503;SNPEFF_CODON_CHANGE=ccA/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_11827278_11827321;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf167;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000433342 GT:AD:DP:GQ:PL 1/1:0,7:7:15.05:205,15,0
1 11827355 rs6540997 A G 87.83 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.28;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf167;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000435090 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:120,9,0
1 11828238 rs4845880 G A 160.89 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.11;SNPEFF_AMINO_ACID_CHANGE=R544Q;SNPEFF_CODON_CHANGE=cGa/cAa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_11828134_11828376;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf167;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000433342 GT:AD:DP:GQ:PL 1/1:0,7:8:15.05:194,15,0
1 11828319 rs4845881 G A 247.71 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.52;SNPEFF_AMINO_ACID_CHANGE=R571Q;SNPEFF_CODON_CHANGE=cGg/cAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_11828134_11828376;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf167;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000433342 GT:AD:DP:GQ:PL 1/1:0,9:9:21.07:281,21,0
1 11831543 rs72638684 C T 125.90 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.133;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.933;QD=8.99;ReadPosRankSum=0.933;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf167;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000435090 GT:AD:DP:GQ:PL 0/1:9,5:14:99:156,0,253
1 11831615 rs6667720 C T 334.04 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.4;SNPEFF_AMINO_ACID_CHANGE=R602W;SNPEFF_CODON_CHANGE=Cgg/Tgg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_11831581_11831693;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf167;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000433342 GT:AD:DP:GQ:PL 1/1:0,10:10:27.09:367,27,0
1 11831756 rs6680385 A G 130.50 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.62;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf167;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000435090 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:163,12,0
1 11832100 rs11121827 T A 148.07 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.495;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.198;QD=21.15;ReadPosRankSum=0.922;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf167;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000433342 GT:AD:DP:GQ:PL 0/1:2,5:7:63.81:178,0,64
1 11832311 rs10779764 G C 184.13 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=0.135;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.529;QD=15.34;ReadPosRankSum=-0.529;SNPEFF_AMINO_ACID_CHANGE=L685;SNPEFF_CODON_CHANGE=ctG/ctC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_11832139_11832316;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf167;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000433342 GT:AD:DP:GQ:PL 0/1:5,7:12:99:214,0,169
1 11837299 rs4846042 A C 50.30 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.15;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf167;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000433342 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
1 11838696 rs72640210 A G 42.12 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.754;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=5.27;ReadPosRankSum=-0.55;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf167;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484153 GT:AD:DP:GQ:PL 0/1:5,3:8:72.11:72,0,139
1 11838762 rs72640211 G A 111.74 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.717;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.825;QD=9.31;ReadPosRankSum=1.186;SNPEFF_AMINO_ACID_CHANGE=L819;SNPEFF_CODON_CHANGE=ctG/ctA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_11838717_11838873;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf167;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000433342 GT:AD:DP:GQ:PL 0/1:6,6:12:99:142,0,145
1 11838841 rs56001051 A G 136.03 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=0.143;DB;DP=12;Dels=0.0;FS=3.424;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.749;QD=11.34;ReadPosRankSum=-1.408;SNPEFF_AMINO_ACID_CHANGE=S846G;SNPEFF_CODON_CHANGE=Agc/Ggc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_11838717_11838873;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf167;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000433342 GT:AD:DP:GQ:PL 0/1:6,5:12:99:166,0,213
1 11838848 rs6697244 G T 169.03 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=0.101;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.493;QD=13.0;ReadPosRankSum=1.369;SNPEFF_AMINO_ACID_CHANGE=S848I;SNPEFF_CODON_CHANGE=aGc/aTc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_11838717_11838873;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf167;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000433342 GT:AD:DP:GQ:PL 0/1:6,7:13:99:199,0,205
1 11844330 rs10864543 C T 72.83 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.406;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=12.14;ReadPosRankSum=0.406;SNPEFF_AMINO_ACID_CHANGE=A1059;SNPEFF_CODON_CHANGE=gcC/gcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_11844231_11844650;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf167;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000433342 GT:AD:DP:GQ:PL 0/1:3,3:6:60.32:103,0,60
1 11847759 rs3737966 C T 73.49 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=14.7;ReadPosRankSum=1.231;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTHFR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000376585 GT:AD:DP:GQ:PL 0/1:2,3:5:66.50:103,0,66
1 11847772 rs3820192 G T 33.54 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.231;QD=6.71;ReadPosRankSum=-1.231;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTHFR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000376585 GT:AD:DP:GQ:PL 0/1:3,2:5:63.53:64,0,110
1 11847902 rs1537515 C A 212.70 PASS AB=0.579;AC=1;AF=0.50;AN=2;BaseQRankSum=0.867;DB;DP=19;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=-0.206;QD=11.19;ReadPosRankSum=-1.115;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTHFR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000376585 GT:AD:DP:GQ:PL 0/1:11,8:19:99:243,0,387
1 11848068 rs1537514 G C 245.20 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.208;DB;DP=16;Dels=0.0;FS=8.129;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.788;QD=15.33;ReadPosRankSum=-0.368;SNPEFF_AMINO_ACID_CHANGE=C1295S;SNPEFF_CODON_CHANGE=tGc/tCc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_11847930_11848104;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf167;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000433342 GT:AD:DP:GQ:PL 0/1:8,8:16:99:275,0,247
1 11848879 rs2077360 A G 124.16 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.04;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf167;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475041 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:157,12,0
1 11849447 rs868014 A G 112.18 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.05;SNPEFF_AMINO_ACID_CHANGE=R1456G;SNPEFF_CODON_CHANGE=Aga/Gga;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_11849327_11849641;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf167;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000433342 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:145,12,0
1 11851003 rs3818762 G C 569.13 PASS AB=0.321;AC=1;AF=0.50;AN=2;BaseQRankSum=0.639;DB;DP=28;Dels=0.0;FS=2.755;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.918;QD=20.33;ReadPosRankSum=-0.394;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf167;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000433342 GT:AD:DP:GQ:PL 0/1:9,19:28:99:599,0,290
1 11851118 rs7518348 A G 332 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.05;MQ0=0;QD=27.67;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf167;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000433342 GT:AD:DP:GQ:PL 1/1:0,12:12:33.07:365,33,0
1 11852300 rs1476413 C T 680.03 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=1.177;DB;DP=69;Dels=0.0;FS=19.248;HRun=1;HaplotypeScore=1.7883;MQ=59.39;MQ0=0;MQRankSum=-0.872;QD=9.86;ReadPosRankSum=0.694;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf167;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000433342 GT:AD:DP:GQ:PL 0/1:46,23:69:99:710,0,1514
1 11852516 rs17375901 C T 197.91 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=1.589;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.572;QD=24.74;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf167;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000433342 GT:AD:DP:GQ:PL 0/1:2,6:8:48.12:228,0,48
1 11854457 rs4846051 G A 3313.64 PASS AC=2;AF=1.00;AN=2;DB;DP=96;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;QD=34.52;SNPEFF_AMINO_ACID_CHANGE=F435;SNPEFF_CODON_CHANGE=ttC/ttT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_11854415_11854595;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTHFR;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000376590 GT:AD:DP:GQ:PL 1/1:0,96:96:99:3314,244,0
1 11854476 rs1801131 T G 1017.32 PASS AB=0.592;AC=1;AF=0.50;AN=2;BaseQRankSum=0.397;DB;DP=98;Dels=0.0;FS=12.54;HRun=0;HaplotypeScore=0.9159;MQ=60.0;MQ0=0;MQRankSum=-0.636;QD=10.38;ReadPosRankSum=0.967;SNPEFF_AMINO_ACID_CHANGE=E429A;SNPEFF_CODON_CHANGE=gAa/gCa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_11854415_11854595;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTHFR;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000376590 GT:AD:DP:GQ:PL 0/1:58,40:98:99:1047,0,1815
1 11854671 rs12121543 C A 1295.59 PASS AB=0.489;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.406;DB;DP=90;Dels=0.0;FS=12.266;HRun=0;HaplotypeScore=0.9996;MQ=59.79;MQ0=0;MQRankSum=-0.15;QD=14.4;ReadPosRankSum=-1.478;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTHFR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000376583 GT:AD:DP:GQ:PL 0/1:44,46:90:99:1326,0,1448
1 11854755 rs1994798 G A 1574.76 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.849;DB;DP=135;Dels=0.0;FS=4.094;HRun=0;HaplotypeScore=1.6316;MQ=60.0;MQ0=0;MQRankSum=-0.17;QD=11.66;ReadPosRankSum=1.282;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTHFR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000376583 GT:AD:DP:GQ:PL 0/1:75,60:135:99:1605,0,2281
1 11854896 rs2066462 G A 691.91 PASS AB=0.351;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.119;DB;DP=37;Dels=0.0;FS=4.959;HRun=0;HaplotypeScore=1.5317;MQ=59.38;MQ0=0;MQRankSum=-0.256;QD=18.7;ReadPosRankSum=0.051;SNPEFF_AMINO_ACID_CHANGE=S352;SNPEFF_CODON_CHANGE=agC/agT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_11854786_11854920;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTHFR;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000376590 GT:AD:DP:GQ:PL 0/1:13,24:37:99:722,0,365
1 11856378 rs1801133 G A 3189.97 PASS AB=0.477;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.799;DB;DP=223;Dels=0.0;FS=2.386;HRun=0;HaplotypeScore=0.734;MQ=59.79;MQ0=0;MQRankSum=-0.871;QD=14.24;ReadPosRankSum=1.276;SNPEFF_AMINO_ACID_CHANGE=A222V;SNPEFF_CODON_CHANGE=gCc/gTc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_11856263_11856456;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTHFR;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000376590 GT:AD:DP:GQ:PL 0/1:106,116:223:99:3220,0,3121
1 11860117 rs13306553 A G 301.12 PASS AB=0.304;AC=1;AF=0.50;AN=2;BaseQRankSum=0.705;DB;DP=23;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.211;QD=13.09;ReadPosRankSum=-0.564;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTHFR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000376486 GT:AD:DP:GQ:PL 0/1:7,16:23:99:331,0,224
1 11860120 rs11121832 T C 675.18 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.13;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTHFR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000376486 GT:AD:DP:GQ:PL 1/1:0,24:24:63.14:708,63,0
1 11862778 rs17367504 A G 94.18 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.16;MQ0=0;MQRankSum=0.731;QD=18.84;ReadPosRankSum=0.731;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTHFR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000376486 GT:AD:DP:GQ:PL 0/1:1,4:5:26.19:124,0,26
1 11863057 rs2066470 G A 500.76 PASS AB=0.611;AC=1;AF=0.50;AN=2;BaseQRankSum=0.945;DB;DP=54;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=-0.064;QD=9.27;ReadPosRankSum=0.505;SNPEFF_AMINO_ACID_CHANGE=P39;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_11862938_11863186;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTHFR;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000376590 GT:AD:DP:GQ:PL 0/1:33,21:54:99:531,0,1014
1 11867044 rs3737964 T C 41.02 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=10.25;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCN6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000312413 GT:AD:DP:GQ:PL 1/1:0,4:4:6.02:72,6,0
1 11876662 rs17376328 G A 217.78 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.11;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCN6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000312413 GT:AD:DP:GQ:PL 1/1:0,7:7:18.06:251,18,0
1 11879685 rs198393 C T 169.81 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=1.482;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.5784;MQ=58.55;MQ0=0;MQRankSum=0.847;QD=10.61;ReadPosRankSum=1.694;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCN6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000312413 GT:AD:DP:GQ:PL 0/1:9,7:16:99:200,0,307
1 11879699 rs2050265 A G 174.72 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.811;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=-0.312;QD=13.44;ReadPosRankSum=1.2;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCN6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000312413 GT:AD:DP:GQ:PL 0/1:7,6:13:99:205,0,248
1 11882632 rs55994631 T G 109.98 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=0.689;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.135;QD=9.16;ReadPosRankSum=-1.461;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCN6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000376497 GT:AD:DP:GQ:PL 0/1:5,7:12:99:140,0,169
1 11883629 rs198399 T A 33.70 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=6.74;ReadPosRankSum=1.231;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCN6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000376497 GT:AD:DP:GQ:PL 0/1:3,2:5:63.69:64,0,109
1 11883731 rs12567136 C T 540.36 PASS AB=0.31;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.872;DB;DP=29;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.8321;MQ=59.2;MQ0=0;MQRankSum=0.071;QD=18.63;ReadPosRankSum=-0.636;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCN6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000376497 GT:AD:DP:GQ:PL 0/1:9,20:29:99:570,0,257
1 11883814 rs147832310 C T 654.89 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.214;DB;DP=44;Dels=0.0;FS=6.868;HRun=0;HaplotypeScore=1.9578;MQ=58.51;MQ0=0;MQRankSum=-0.483;QD=14.88;ReadPosRankSum=1.072;SNPEFF_AMINO_ACID_CHANGE=G146;SNPEFF_CODON_CHANGE=ggC/ggT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_11883764_11883890;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCN6;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000376487 GT:AD:DP:GQ:PL 0/1:20,24:44:99:685,0,635
1 11884555 rs198400 A G 1123.30 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.8561;MQ=59.51;MQ0=0;QD=29.56;SNPEFF_AMINO_ACID_CHANGE=E176G;SNPEFF_CODON_CHANGE=gAg/gGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_11884543_11884610;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCN6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000376487 GT:AD:DP:GQ:PL 1/1:0,38:38:90.27:1156,90,0
1 11886383 rs113101975 C CTG 253.06 PASS AB=0.727;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.241;DB;DP=16;FS=0.0;HRun=0;HaplotypeScore=49.1102;IndelType=I;MQ=59.24;MQ0=0;MQRankSum=-0.295;QD=15.82;ReadPosRankSum=-0.766;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCN6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000312413 GT:AD:DP:GQ:PL 0/1:10,6:16:99:292,0,353
1 11887303 rs7537765 A G 305.63 PASS AB=0.353;AC=1;AF=0.50;AN=2;BaseQRankSum=1.681;DB;DP=17;Dels=0.0;FS=3.01;HRun=0;HaplotypeScore=1.575;MQ=58.63;MQ0=0;MQRankSum=1.139;QD=17.98;ReadPosRankSum=1.139;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCN6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000312413 GT:AD:DP:GQ:PL 0/1:6,11:17:99:336,0,158
1 11887316 rs41275478 C A 295.26 PASS AB=0.313;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.359;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.367;MQ=58.55;MQ0=0;MQRankSum=0.68;QD=18.45;ReadPosRankSum=1.246;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCN6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000312413 GT:AD:DP:GQ:PL 0/1:5,11:16:99:325,0,157
1 11887373 rs78178972 T TG 109.48 PASS AC=2;AF=1.00;AN=2;DB;DP=7;FS=0.0;HRun=6;HaplotypeScore=71.2439;IndelType=I;MQ=57.47;MQ0=0;QD=15.64;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCN6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000312413 GT:AD:DP:GQ:PL 1/1:2,5:7:12.03:151,12,0
1 11887382 rs56190030 A G 131.62 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.43;MQ0=0;QD=26.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCN6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000312413 GT:AD:DP:GQ:PL 1/1:1,4:5:12.04:164,12,0
1 11888384 rs198401 A G 452.49 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=1.44;DB;DP=22;Dels=0.0;FS=7.501;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.35;QD=20.57;ReadPosRankSum=1.907;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCN6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000376490 GT:AD:DP:GQ:PL 0/1:6,15:22:99:482,0,166
1 11889468 rs535107 A G 308.67 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.415;DB;DP=30;Dels=0.0;FS=2.235;HRun=0;HaplotypeScore=0.0;MQ=59.38;MQ0=0;MQRankSum=-0.207;QD=10.29;ReadPosRankSum=-0.913;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCN6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000376490 GT:AD:DP:GQ:PL 0/1:15,15:30:99:339,0,539
1 11894133 rs41275494 A G 111.18 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.652;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.729;QD=12.35;ReadPosRankSum=-0.729;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCN6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000376492 GT:AD:DP:GQ:PL 0/1:4,5:9:99:141,0,134
1 11896856 rs55892892 C A 34.09 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=4;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.026;QD=8.52;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCN6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000494028 GT:AD:DP:GQ:PL 0/1:2,2:4:33.62:64,0,34
1 11897286 rs72640267 G T 347.92 PASS AB=0.567;AC=1;AF=0.50;AN=2;BaseQRankSum=1.465;DB;DP=30;Dels=0.0;FS=8.759;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.167;QD=11.6;ReadPosRankSum=0.711;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCN6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000494028 GT:AD:DP:GQ:PL 0/1:17,13:30:99:378,0,571
1 11897592 rs198406 A G 339.53 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=4.535;DB;DP=32;Dels=0.0;FS=8.479;HRun=1;HaplotypeScore=1.7335;MQ=59.42;MQ0=0;MQRankSum=-0.136;QD=10.61;ReadPosRankSum=-2.316;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCN6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000494028 GT:AD:DP:GQ:PL 0/1:20,12:32:99:370,0,620
1 11898859 rs55741089 G A 314.75 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.187;DB;DP=31;Dels=0.0;FS=1.619;HRun=0;HaplotypeScore=1.565;MQ=58.5;MQ0=0;MQRankSum=-1.226;QD=10.15;ReadPosRankSum=-1.06;SNPEFF_AMINO_ACID_CHANGE=A891T;SNPEFF_CODON_CHANGE=Gct/Act;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_11898592_11899107;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCN6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000376496 GT:AD:DP:GQ:PL 0/1:16,14:31:99:345,0,489
1 11899033 rs1023252 G T 381.15 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.115;DB;DP=32;Dels=0.0;FS=8.695;HRun=0;HaplotypeScore=0.0;MQ=59.28;MQ0=0;MQRankSum=2.352;QD=11.91;ReadPosRankSum=1.324;SNPEFF_AMINO_ACID_CHANGE=D949Y;SNPEFF_CODON_CHANGE=Gat/Tat;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_11898592_11899107;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCN6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000376496 GT:AD:DP:GQ:PL 0/1:16,16:32:99:411,0,527
1 11900035 rs198410 G A 216.46 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.08;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCN6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000376496 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:249,18,0
1 11905851 rs61764044 A G 64.58 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.731;QD=12.92;ReadPosRankSum=0.731;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCN6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000312413 GT:AD:DP:GQ:PL 0/1:1,4:5:30.19:95,0,30
1 11905974 rs5068 A G 92.91 PASS AB=0.737;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.972;DB;DP=19;Dels=0.0;FS=3.299;HRun=1;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=0.509;QD=4.89;ReadPosRankSum=-1.528;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCN6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000312413 GT:AD:DP:GQ:PL 0/1:14,5:19:99:123,0,487
1 11906960 rs198369 T C 162.74 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.447;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.734;MQ=55.62;MQ0=0;MQRankSum=-1.036;QD=16.27;ReadPosRankSum=-2.072;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCN6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000312413 GT:AD:DP:GQ:PL 0/1:4,6:10:99:193,0,140
1 11917620 rs35458601 T TA 103.15 PASS AB=0.737;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.927;DB;DP=14;FS=3.123;HRun=7;HaplotypeScore=36.0598;IndelType=I;MQ=60.0;MQ0=0;MQRankSum=-0.817;QD=7.37;ReadPosRankSum=1.092;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NPPB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474547 GT:AD:DP:GQ:PL 0/1:9,5:14:99:142,0,192
1 12052405 rs6675934 G A 122.55 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.64;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MFN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484391 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:155,12,0
1 12091210 rs946461 T C 33.52 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.026;QD=8.38;ReadPosRankSum=-1.026;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MIIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478749 GT:AD:DP:GQ:PL 0/1:2,2:4:63.52:64,0,73
1 12144662 rs11569821 T A 349.32 PASS AB=0.476;AC=1;AF=0.50;AN=2;BaseQRankSum=2.077;DB;DP=21;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.035;QD=16.63;ReadPosRankSum=-1.584;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNFRSF8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263932 GT:AD:DP:GQ:PL 0/1:10,11:21:99:379,0,329
1 12144667 rs11569822 C T 258.29 PASS AB=0.474;AC=1;AF=0.50;AN=2;BaseQRankSum=2.245;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.041;QD=13.59;ReadPosRankSum=-1.511;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNFRSF8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263932 GT:AD:DP:GQ:PL 0/1:9,10:19:99:288,0,263
1 12164437 rs2230622 C T 437.51 PASS AB=0.595;AC=1;AF=0.50;AN=2;BaseQRankSum=2.727;DB;DP=42;Dels=0.0;FS=2.909;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=0.585;QD=10.42;ReadPosRankSum=-1.242;SNPEFF_AMINO_ACID_CHANGE=D90;SNPEFF_CODON_CHANGE=gaC/gaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_12164436_12164588;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNFRSF8;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000263932 GT:AD:DP:GQ:PL 0/1:25,17:42:99:468,0,654
1 12175729 rs1763642 C T 1959.51 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.78;SNPEFF_AMINO_ACID_CHANGE=R186C;SNPEFF_CODON_CHANGE=Cgt/Tgt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_12175634_12175786;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNFRSF8;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000417814 GT:AD:DP:GQ:PL 1/1:0,58:58:99:1993,150,0
1 12249031 rs1201157 A G 330.98 PASS AB=0.091;AC=1;AF=0.50;AN=2;BaseQRankSum=0.158;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.158;QD=30.09;ReadPosRankSum=0.474;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNFRSF1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000376259 GT:AD:DP:GQ:PL 0/1:1,10:11:8.13:361,0,8
1 12267199 . A G 75.87 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.727;QD=18.97;ReadPosRankSum=0.727;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNFRSF1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000492361 GT:AD:DP:GQ:PL 0/1:1,3:4:29.72:106,0,30
1 12267265 rs1061624 A G 46.56 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.28;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNFRSF1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000492361 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:78,6,0
1 12401868 rs28551666 A C 3057.48 PASS AC=2;AF=1.00;AN=2;DB;DP=94;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;QD=32.53;SNPEFF_AMINO_ACID_CHANGE=P2861;SNPEFF_CODON_CHANGE=ccA/ccC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_12401837_12401942;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VPS13D;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000356315 GT:AD:DP:GQ:PL 1/1:0,94:94:99:3090,232,0
1 12408900 . G A 839.44 PASS AB=0.377;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.945;DP=53;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=59.56;MQ0=0;MQRankSum=1.33;QD=15.84;ReadPosRankSum=-1.844;SNPEFF_AMINO_ACID_CHANGE=V3005;SNPEFF_CODON_CHANGE=gtG/gtA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_12408880_12409030;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VPS13D;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000356315 GT:AD:DP:GQ:PL 0/1:20,33:53:99:869,0,586
1 12418700 rs10864552 T C 789.71 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.17;MQ0=0;QD=28.2;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VPS13D;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356315 GT:AD:DP:GQ:PL 1/1:0,28:28:66.19:823,66,0
1 12567232 rs7554257 A G 1104.21 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.44;MQ0=0;QD=36.81;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VPS13D;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473099 GT:AD:DP:GQ:PL 1/1:0,30:30:87.27:1137,87,0
1 12628637 rs4240900 G A 50.63 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DHRS3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000376223 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
1 12638964 rs2275875 T C 107.04 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.784;DB;DP=20;Dels=0.0;FS=1.922;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.866;QD=5.35;ReadPosRankSum=0.454;SNPEFF_AMINO_ACID_CHANGE=P160;SNPEFF_CODON_CHANGE=ccA/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_12638746_12638984;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DHRS3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000376223 GT:AD:DP:GQ:PL 0/1:14,6:20:99:137,0,438
1 12639018 rs2275874 C T 41.59 PASS AB=0.765;AC=1;AF=0.50;AN=2;BaseQRankSum=0.623;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.864;MQ=60.0;MQ0=0;MQRankSum=-0.283;QD=2.45;ReadPosRankSum=-1.755;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DHRS3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000482265 GT:AD:DP:GQ:PL 0/1:13,4:17:71.58:72,0,332
1 12639596 rs2358737 C T 46.12 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.06;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DHRS3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000482265 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:77,6,0
1 12776218 rs3000860 A C 179.57 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=1.093;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.811;QD=13.81;ReadPosRankSum=-0.935;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_1_12776118_12776347;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AADACL3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000332530 GT:AD:DP:GQ:PL 0/1:7,6:13:99:210,0,246
1 12776344 rs3000859 A T 512.94 PASS AB=0.558;AC=1;AF=0.50;AN=2;BaseQRankSum=1.542;DB;DP=44;Dels=0.0;FS=1.147;HRun=1;HaplotypeScore=1.9992;MQ=59.58;MQ0=0;MQRankSum=0.126;QD=11.66;ReadPosRankSum=-2.325;SNPEFF_AMINO_ACID_CHANGE=M1L;SNPEFF_CODON_CHANGE=Atg/Ttg;SNPEFF_EFFECT=NON_SYNONYMOUS_START;SNPEFF_EXON_ID=exon_1_12776118_12776347;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AADACL3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000332530 GT:AD:DP:GQ:PL 0/1:24,19:44:99:543,0,749
1 12779560 rs3010876 T C 3710.30 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.386;DB;DP=119;Dels=0.0;FS=2.888;HRun=3;HaplotypeScore=0.7887;MQ=58.99;MQ0=0;MQRankSum=-1.115;QD=31.18;ReadPosRankSum=-0.782;SNPEFF_AMINO_ACID_CHANGE=D27;SNPEFF_CODON_CHANGE=gaT/gaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_12779477_12779693;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AADACL3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000359318 GT:AD:DP:GQ:PL 1/1:2,117:119:99:3710,223,0
1 12779618 rs3010877 T C 2367.30 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.957;DB;DP=70;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.7825;MQ=58.6;MQ0=0;MQRankSum=-0.233;QD=33.82;ReadPosRankSum=-1.215;SNPEFF_AMINO_ACID_CHANGE=S47P;SNPEFF_CODON_CHANGE=Tcc/Ccc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_12779477_12779693;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AADACL3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000359318 GT:AD:DP:GQ:PL 1/1:1,69:70:99:2400,147,0
1 12785093 rs4361998 T G 482.45 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.11;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AADACL3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000332530 GT:AD:DP:GQ:PL 1/1:0,13:13:39.13:515,39,0
1 12785494 rs7513079 G T 1274.85 PASS AB=0.484;AC=1;AF=0.50;AN=2;BaseQRankSum=1.771;DB;DP=96;Dels=0.0;FS=4.114;HRun=7;HaplotypeScore=3.8308;MQ=60.0;MQ0=0;MQRankSum=-0.401;QD=13.28;ReadPosRankSum=-0.916;SNPEFF_AMINO_ACID_CHANGE=C125F;SNPEFF_CODON_CHANGE=tGt/tTt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_12785189_12788726;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AADACL3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000332530 GT:AD:DP:GQ:PL 0/1:46,49:96:99:1305,0,1437
1 12785749 rs11121969 C T 732.63 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=2.652;DB;DP=52;Dels=0.0;FS=2.453;HRun=0;HaplotypeScore=1.9832;MQ=60.0;MQ0=0;MQRankSum=-0.578;QD=14.09;ReadPosRankSum=1.661;SNPEFF_AMINO_ACID_CHANGE=P210L;SNPEFF_CODON_CHANGE=cCg/cTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_12785189_12788726;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AADACL3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000332530 GT:AD:DP:GQ:PL 0/1:28,24:52:99:763,0,830
1 12786070 rs3000930 A G 64.56 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=0.322;DB;DP=8;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=57.63;MQ0=0;MQRankSum=-0.684;QD=8.07;ReadPosRankSum=-0.684;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AADACL3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359318 GT:AD:DP:GQ:PL 0/1:5,3:8:94.56:95,0,182
1 12819063 rs3795746 A T 414.24 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.469;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.977;QD=19.73;ReadPosRankSum=-1.529;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf158;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288048 GT:AD:DP:GQ:PL 0/1:7,14:21:99:444,0,236
1 12820491 rs3010919 T G 49.99 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=16.66;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf158;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288048 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:81,6,0
1 12820870 rs1132185 T C 1704.56 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.42;SNPEFF_AMINO_ACID_CHANGE=F153L;SNPEFF_CODON_CHANGE=Ttc/Ctc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_12820703_12821102;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf158;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000376210 GT:AD:DP:GQ:PL 1/1:0,51:51:99:1738,132,0
1 12835868 rs1812242 T C 919.55 PASS AB=0.477;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.935;DB;DP=65;Dels=0.0;FS=0.938;HRun=0;HaplotypeScore=0.0;MQ=59.0;MQ0=0;MQRankSum=-1.044;QD=14.15;ReadPosRankSum=-0.19;SNPEFF_AMINO_ACID_CHANGE=M157T;SNPEFF_CODON_CHANGE=aTg/aCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_12835686_12836261;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF12;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000357726 GT:AD:DP:GQ:PL 0/1:31,34:65:99:950,0,1017
1 12837634 rs848578 T A 1664.23 PASS AB=0.43;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.136;DB;DP=93;Dels=0.0;FS=8.005;HRun=1;HaplotypeScore=2.8002;MQ=59.75;MQ0=0;MQRankSum=0.563;QD=17.89;ReadPosRankSum=1.176;SNPEFF_AMINO_ACID_CHANGE=I448;SNPEFF_CODON_CHANGE=atT/atA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_12837154_12838049;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF12;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000357726 GT:AD:DP:GQ:PL 0/1:40,53:93:99:1694,0,1273
1 12837840 rs848577 G C 56.27 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.054;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.573;QD=6.25;ReadPosRankSum=0.573;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357726 GT:AD:DP:GQ:PL 0/1:6,3:9:86.26:86,0,220
1 12853217 rs5000865 A T 60.61 QDFilter2 AB=0.844;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.297;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.5;MQ0=0;MQRankSum=-3.218;QD=1.89;ReadPosRankSum=0.882;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000332296 GT:AD:DP:GQ:PL 0/1:27,5:32:90.60:91,0,996
1 12853230 rs115390497 G A 39.07 QDFilter2 AB=0.857;AC=1;AF=0.50;AN=2;BaseQRankSum=3.276;DB;DP=35;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9159;MQ=53.81;MQ0=0;MQRankSum=-3.135;QD=1.12;ReadPosRankSum=2.239;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000332296 GT:AD:DP:GQ:PL 0/1:30,5:35:69.07:69,0,1101
1 12853231 rs5000864 T C 41.62 QDFilter2 AB=0.857;AC=1;AF=0.50;AN=2;BaseQRankSum=3.371;DB;DP=36;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9159;MQ=53.42;MQ0=0;MQRankSum=-3.371;QD=1.16;ReadPosRankSum=2.333;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000332296 GT:AD:DP:GQ:PL 0/1:30,5:36:71.62:72,0,1080
1 12853403 rs1737157 A C 1095.06 PASS AB=0.711;AC=1;AF=0.50;AN=2;BaseQRankSum=5.429;DB;DP=187;Dels=0.0;FS=10.369;HRun=1;HaplotypeScore=3.9571;MQ=50.06;MQ0=4;MQRankSum=-7.392;QD=5.86;ReadPosRankSum=-1.868;SNPEFF_AMINO_ACID_CHANGE=L9;SNPEFF_CODON_CHANGE=ctA/ctC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_12853352_12853663;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000332296 GT:AD:DP:GQ:PL 0/1:133,54:187:99:1125,0,4108
1 12853750 rs72472660 G A 59.94 MQFilter40;QDFilter2 AB=0.774;AC=1;AF=0.50;AN=2;BaseQRankSum=1.568;DB;DP=124;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=27.16;MQ0=48;MQRankSum=-2.45;QD=0.48;ReadPosRankSum=3.635;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000332296 GT:AD:DP:GQ:PL 0/1:96,28:124:89.94:90,0,1802
1 12853975 rs72472661 G T 323.11 PASS AB=0.774;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.899;DB;DP=84;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=42.89;MQ0=4;MQRankSum=-3.697;QD=3.85;ReadPosRankSum=-1.538;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000332296 GT:AD:DP:GQ:PL 0/1:65,19:84:99:353,0,2122
1 12854021 rs140629685 G T 240.91 MQFilter40;QDFilter2 AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.41;DB;DP=152;Dels=0.0;FS=5.198;HRun=1;HaplotypeScore=1.7883;MQ=38.03;MQ0=6;MQRankSum=-5.455;QD=1.58;ReadPosRankSum=2.962;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000332296 GT:AD:DP:GQ:PL 0/1:114,38:152:99:271,0,3234
1 12854022 rs151202400 A T 220.93 MQFilter40;QDFilter2 AB=0.756;AC=1;AF=0.50;AN=2;BaseQRankSum=0.867;DB;DP=156;Dels=0.0;FS=5.216;HRun=0;HaplotypeScore=1.7883;MQ=38.11;MQ0=6;MQRankSum=-5.476;QD=1.42;ReadPosRankSum=3.163;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000332296 GT:AD:DP:GQ:PL 0/1:118,38:156:99:251,0,3431
1 12854041 rs76280430 T C 396.72 MQFilter40;QDFilter2 AB=0.771;AC=1;AF=0.50;AN=2;BaseQRankSum=4.99;DB;DP=210;Dels=0.0;FS=3.78;HRun=1;HaplotypeScore=1.9025;MQ=38.92;MQ0=8;MQRankSum=-5.845;QD=1.89;ReadPosRankSum=-0.208;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000332296 GT:AD:DP:GQ:PL 0/1:162,48:210:99:427,0,4758
1 12854052 rs78573959 C T 256.53 MQFilter40;QDFilter2 AB=0.78;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.832;DB;DP=250;DS;Dels=0.0;FS=1.934;HRun=3;HaplotypeScore=0.9867;MQ=38.46;MQ0=8;MQRankSum=-5.92;QD=1.03;ReadPosRankSum=-2.552;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000332296 GT:AD:DP:GQ:PL 0/1:195,55:250:99:287,0,5893
1 12854090 rs79698223 T A 275.88 QDFilter2 AB=0.812;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.92;DB;DP=250;DS;Dels=0.0;FS=22.098;HRun=0;HaplotypeScore=0.9967;MQ=41.21;MQ0=6;MQRankSum=-6.617;QD=1.1;ReadPosRankSum=1.39;SNPEFF_AMINO_ACID_CHANGE=L105*;SNPEFF_CODON_CHANGE=tTg/tAg;SNPEFF_EFFECT=STOP_GAINED;SNPEFF_EXON_ID=exon_1_12854064_12854642;SNPEFF_FUNCTIONAL_CLASS=NONSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF1;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000332296 GT:AD:DP:GQ:PL 0/1:203,47:250:99:306,0,6457
1 12854097 rs76193255 T C 277.63 QDFilter2 AB=0.812;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.294;DB;DP=250;DS;Dels=0.0;FS=23.449;HRun=0;HaplotypeScore=0.9967;MQ=42.01;MQ0=6;MQRankSum=-6.516;QD=1.11;ReadPosRankSum=2.273;SNPEFF_AMINO_ACID_CHANGE=D107;SNPEFF_CODON_CHANGE=gaT/gaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_12854064_12854642;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000332296 GT:AD:DP:GQ:PL 0/1:203,47:250:99:308,0,6284
1 12854105 rs76648802 A G 344.21 QDFilter2 AB=0.816;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.353;DB;DP=250;DS;Dels=0.0;FS=20.54;HRun=1;HaplotypeScore=0.6651;MQ=42.43;MQ0=6;MQRankSum=-6.621;QD=1.38;ReadPosRankSum=3.305;SNPEFF_AMINO_ACID_CHANGE=E110G;SNPEFF_CODON_CHANGE=gAg/gGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_12854064_12854642;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000332296 GT:AD:DP:GQ:PL 0/1:204,46:250:99:374,0,6382
1 12854428 rs1769774 C T 1687.39 PASS AB=0.713;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.579;DB;DP=237;DS;Dels=0.0;FS=1.194;HRun=0;HaplotypeScore=5.5527;MQ=47.45;MQ0=6;MQRankSum=-0.247;QD=7.09;ReadPosRankSum=-0.041;SNPEFF_AMINO_ACID_CHANGE=P218S;SNPEFF_CODON_CHANGE=Cca/Tca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_12854064_12854642;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000332296 GT:AD:DP:GQ:PL 0/1:169,68:237:99:1717,0,4666
1 12854530 rs1063776 C G 6368 PASS AC=2;AF=1.00;AN=2;DB;DP=190;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.9414;MQ=52.52;MQ0=1;QD=33.52;SNPEFF_AMINO_ACID_CHANGE=Q252E;SNPEFF_CODON_CHANGE=Caa/Gaa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_12854064_12854642;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000332296 GT:AD:DP:GQ:PL 1/1:1,189:190:99:6368,499,0
1 12854544 rs1063778 T C 1633.65 PASS AB=0.654;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.7;DB;DP=191;DS;Dels=0.0;FS=4.822;HRun=0;HaplotypeScore=3.8043;MQ=53.95;MQ0=0;MQRankSum=-5.613;QD=8.55;ReadPosRankSum=1.557;SNPEFF_AMINO_ACID_CHANGE=V256;SNPEFF_CODON_CHANGE=gtT/gtC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_12854064_12854642;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000332296 GT:AD:DP:GQ:PL 0/1:125,66:191:99:1664,0,4156
1 12854713 rs11121979 G T 2174.65 PASS AB=0.339;AC=1;AF=0.50;AN=2;BaseQRankSum=0.021;DB;DP=118;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.096;MQ=56.83;MQ0=0;MQRankSum=5.19;QD=18.43;ReadPosRankSum=1.309;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000332296 GT:AD:DP:GQ:PL 0/1:40,78:118:99:2205,0,1192
1 12854716 rs1737150 A G 913.76 PASS AB=0.673;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.139;DB;DP=113;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.096;MQ=56.67;MQ0=0;MQRankSum=-3.777;QD=8.09;ReadPosRankSum=-1.398;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000332296 GT:AD:DP:GQ:PL 0/1:76,37:113:99:944,0,2198
1 12854842 rs11121980 G C 647.77 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.672;DB;DP=44;Dels=0.0;FS=3.362;HRun=0;HaplotypeScore=4.0191;MQ=40.39;MQ0=4;MQRankSum=1.59;QD=14.72;ReadPosRankSum=-0.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000332296 GT:AD:DP:GQ:PL 0/1:22,22:44:99:678,0,432
1 12854930 rs2744046 T G 174.97 MQFilter40;QDFilter2 AB=0.813;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.52;DB;DP=107;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.8295;MQ=19.6;MQ0=33;MQRankSum=2.305;QD=1.64;ReadPosRankSum=-0.834;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_1_12854840_12855118;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000400814 GT:AD:DP:GQ:PL 0/1:87,20:107:99:205,0,1170
1 12855720 rs113708906 C T 1415.12 MQFilter40 AB=0.689;AC=1;AF=0.50;AN=2;BaseQRankSum=4.626;DB;DP=222;Dels=0.0;FS=1.253;HRun=0;HaplotypeScore=1.7885;MQ=37.86;MQ0=17;MQRankSum=-0.292;QD=6.37;ReadPosRankSum=-1.295;SNPEFF_AMINO_ACID_CHANGE=R334C;SNPEFF_CODON_CHANGE=Cgc/Tgc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_12855587_12856777;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000332296 GT:AD:DP:GQ:PL 0/1:153,69:222:99:1445,0,3577
1 12855835 rs1063795 C G 2249.60 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=131;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.5226;MQ=26.64;MQ0=25;QD=17.17;SNPEFF_AMINO_ACID_CHANGE=A127G;SNPEFF_CODON_CHANGE=gCc/gGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_12855587_12856634;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000400814 GT:AD:DP:GQ:PL 1/1:0,131:131:99:2283,213,0
1 12855845 rs1063797 G C 1983.79 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=123;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.4558;MQ=26.01;MQ0=25;QD=16.13;SNPEFF_AMINO_ACID_CHANGE=R130;SNPEFF_CODON_CHANGE=cgG/cgC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_12855587_12856634;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000400814 GT:AD:DP:GQ:PL 1/1:0,122:123:99:2017,186,0
1 12856010 rs61775053 C G 513.78 MQFilter40 AB=0.756;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.416;DB;DP=250;DS;Dels=0.0;FS=0.713;HRun=0;HaplotypeScore=1.7046;MQ=25.73;MQ0=42;MQRankSum=-1.506;QD=2.06;ReadPosRankSum=-0.507;SNPEFF_AMINO_ACID_CHANGE=F185L;SNPEFF_CODON_CHANGE=ttC/ttG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_12855587_12856634;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000400814 GT:AD:DP:GQ:PL 0/1:189,61:250:99:544,0,3463
1 12856105 rs146835774 C G 387.50 HaplotypeScoreFilter13;MQFilter40;QDFilter2 AB=0.807;AC=1;AF=0.50;AN=2;BaseQRankSum=3.517;DB;DP=212;DS;Dels=0.0;FS=11.929;HRun=0;HaplotypeScore=33.005;MQ=25.15;MQ0=29;MQRankSum=-1.137;QD=1.83;ReadPosRankSum=0.033;SNPEFF_AMINO_ACID_CHANGE=S217*;SNPEFF_CODON_CHANGE=tCa/tGa;SNPEFF_EFFECT=STOP_GAINED;SNPEFF_EXON_ID=exon_1_12855587_12856634;SNPEFF_FUNCTIONAL_CLASS=NONSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF1;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000400814 GT:AD:DP:GQ:PL 0/1:171,41:212:99:417,0,3060
1 12856111 rs61775054 C T 1225.18 HaplotypeScoreFilter13;MQFilter40 AB=0.641;AC=1;AF=0.50;AN=2;BaseQRankSum=6.526;DB;DP=206;DS;Dels=0.0;FS=25.5;HRun=0;HaplotypeScore=32.3399;MQ=25.0;MQ0=27;MQRankSum=-0.354;QD=5.95;ReadPosRankSum=0.585;SNPEFF_AMINO_ACID_CHANGE=P219L;SNPEFF_CODON_CHANGE=cCg/cTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_12855587_12856634;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000400814 GT:AD:DP:GQ:PL 0/1:132,74:206:99:1255,0,1997
1 12856146 rs1974302 G A 43.12 HaplotypeScoreFilter13;MQFilter40;QDFilter2 AB=0.83;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.155;DB;DP=135;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=15.6289;MQ=22.64;MQ0=33;MQRankSum=-0.683;QD=0.32;ReadPosRankSum=1.587;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000332296 GT:AD:DP:GQ:PL 0/1:112,23:135:73.11:73,0,1631
1 12856153 rs61775055 G A 181.77 MQFilter40;QDFilter2 AB=0.704;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.107;DB;DP=125;Dels=0.0;FS=4.912;HRun=0;HaplotypeScore=12.7216;MQ=22.93;MQ0=32;MQRankSum=-3.421;QD=1.45;ReadPosRankSum=0.493;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000332296 GT:AD:DP:GQ:PL 0/1:88,37:125:99:212,0,1353
1 12884615 rs72550060 C T 44.59 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.262;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=49.04;MQ0=1;MQRankSum=0.382;QD=3.72;ReadPosRankSum=0.978;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000437584 GT:AD:DP:GQ:PL 0/1:9,3:12:74.58:75,0,300
1 12887054 rs3738105 T C 655.41 HaplotypeScoreFilter13;MQFilter40 AB=0.737;AC=1;AF=0.50;AN=2;BaseQRankSum=4.092;DB;DP=250;DS;Dels=0.0;FS=5.285;HRun=0;HaplotypeScore=41.9357;MQ=23.72;MQ0=76;MQRankSum=-1.096;QD=2.62;ReadPosRankSum=-0.503;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331684 GT:AD:DP:GQ:PL 0/1:146,52:250:99:685,0,2140
1 12887549 rs2994114 T C 4091.74 PASS AB=0.304;AC=1;AF=0.50;AN=2;BaseQRankSum=5.008;DB;DP=250;DS;Dels=0.0;FS=0.538;HRun=1;HaplotypeScore=3.6716;MQ=41.78;MQ0=7;MQRankSum=-9.64;QD=16.37;ReadPosRankSum=2.134;SNPEFF_AMINO_ACID_CHANGE=E103G;SNPEFF_CODON_CHANGE=gAa/gGa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_12887108_12887689;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF11;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000437584 GT:AD:DP:GQ:PL 0/1:76,174:250:99:4092,0,2247
1 12887852 rs147258215 GT G 52.32 QDFilter2 AB=0.843;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.138;DB;DP=42;FS=0.0;HRun=11;HaplotypeScore=188.1411;IndelType=D;MQ=53.91;MQ0=0;MQRankSum=0.138;QD=1.22;ReadPosRankSum=2.241;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331684 GT:AD:DP:GQ:PL 0/1:35,8:42:91.35:91,0,550
1 12888476 . C T 65.93 MQFilter40;QDFilter2 AB=0.871;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.026;DP=202;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7256;MQ=29.56;MQ0=67;MQRankSum=-0.389;QD=0.33;ReadPosRankSum=1.005;SNPEFF_AMINO_ACID_CHANGE=V16;SNPEFF_CODON_CHANGE=gtG/gtA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_12888357_12888664;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF11;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000437584 GT:AD:DP:GQ:PL 0/1:176,26:202:95.92:96,0,2708
1 12888545 rs2982101 C T 251.87 QDFilter2 AB=0.884;AC=1;AF=0.50;AN=2;BaseQRankSum=1.134;DB;DP=250;DS;Dels=0.0;FS=38.796;HRun=0;HaplotypeScore=4.5631;MQ=45.51;MQ0=0;MQRankSum=-6.336;QD=1.01;ReadPosRankSum=0.841;SNPEFF_AMINO_ACID_CHANGE=T34;SNPEFF_CODON_CHANGE=acG/acA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_12888357_12888604;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF11;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000331684 GT:AD:DP:GQ:PL 0/1:220,29:250:99:282,0,5949
1 12888569 rs78453011 G C 289.08 FSFilter60;QDFilter2 AB=0.837;AC=1;AF=0.50;AN=2;BaseQRankSum=2.526;DB;DP=246;DS;Dels=0.0;FS=79.699;HRun=0;HaplotypeScore=3.7711;MQ=48.59;MQ0=1;MQRankSum=-9.742;QD=1.18;ReadPosRankSum=0.319;SNPEFF_AMINO_ACID_CHANGE=V26;SNPEFF_CODON_CHANGE=gtC/gtG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_12888357_12888604;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF11;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000331684 GT:AD:DP:GQ:PL 0/1:206,40:246:99:319,0,6471
1 12888571 rs2982100 C T 287.27 FSFilter60;QDFilter2 AB=0.834;AC=1;AF=0.50;AN=2;BaseQRankSum=3.054;DB;DP=247;DS;Dels=0.0;FS=75.746;HRun=0;HaplotypeScore=2.7714;MQ=48.83;MQ0=1;MQRankSum=-9.968;QD=1.16;ReadPosRankSum=0.535;SNPEFF_AMINO_ACID_CHANGE=V26I;SNPEFF_CODON_CHANGE=Gtc/Atc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_12888357_12888604;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF11;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000331684 GT:AD:DP:GQ:PL 0/1:206,41:247:99:317,0,6225
1 12888595 rs76039145 G C 701.34 FSFilter60;HaplotypeScoreFilter13 AB=0.81;AC=1;AF=0.50;AN=2;BaseQRankSum=3.481;DB;DP=226;DS;Dels=0.0;FS=87.767;HRun=0;HaplotypeScore=191.9726;MQ=46.06;MQ0=4;MQRankSum=-8.91;QD=3.1;ReadPosRankSum=0.518;SNPEFF_AMINO_ACID_CHANGE=L18V;SNPEFF_CODON_CHANGE=Ctg/Gtg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_12888357_12888604;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF11;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000331684 GT:AD:DP:GQ:PL 0/1:183,43:226:99:731,0,5444
1 12888601 rs113914674 G GC 8235.57 PASS AC=2;AF=1.00;AN=2;DB;DP=216;DS;FS=0.0;HRun=3;HaplotypeScore=1249.2318;IndelType=I;MQ=45.05;MQ0=5;QD=36.6;SNPEFF_EFFECT=FRAME_SHIFT;SNPEFF_EXON_ID=exon_1_12888357_12888604;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF11;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000331684 GT:AD:DP:GQ:PL 1/1:21,204:216:99:8236,593,0
1 12888607 . A C 872.20 FSFilter60;HaplotypeScoreFilter13 AB=0.76;AC=1;AF=0.50;AN=2;BaseQRankSum=3.576;DP=242;DS;Dels=0.0;FS=143.503;HRun=1;HaplotypeScore=148.8588;MQ=44.58;MQ0=6;MQRankSum=-9.588;QD=3.6;ReadPosRankSum=-0.675;SNPEFF_AMINO_ACID_CHANGE=L14;SNPEFF_CODON_CHANGE=ctT/ctG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_12888607_12888648;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF11;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000331684 GT:AD:DP:GQ:PL 0/1:184,58:242:99:902,0,5422
1 12888629 rs76312011 A G 877.47 FSFilter60 AB=0.763;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.25;DB;DP=241;DS;Dels=0.0;FS=165.93;HRun=0;HaplotypeScore=4.5158;MQ=44.82;MQ0=6;MQRankSum=-8.813;QD=3.64;ReadPosRankSum=0.399;SNPEFF_AMINO_ACID_CHANGE=I7T;SNPEFF_CODON_CHANGE=aTt/aCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_12888607_12888648;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF11;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000331684 GT:AD:DP:GQ:PL 0/1:184,57:241:99:907,0,5297
1 12888706 rs61777005 C A 2504.58 PASS AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.188;DB;DP=212;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.6988;MQ=43.35;MQ0=1;MQRankSum=-7.591;QD=11.81;ReadPosRankSum=2.877;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000437584 GT:AD:DP:GQ:PL 0/1:111,100:212:99:2535,0,3338
1 12888752 rs61777006 C T 2374.64 PASS AB=0.427;AC=1;AF=0.50;AN=2;BaseQRankSum=3.067;DB;DP=143;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.444;MQ=41.83;MQ0=0;MQRankSum=-6.178;QD=16.61;ReadPosRankSum=0.716;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000437584 GT:AD:DP:GQ:PL 0/1:61,82:143:99:2405,0,1932
1 12888795 rs61777007 T A 823.64 PASS AB=0.534;AC=1;AF=0.50;AN=2;BaseQRankSum=3.788;DB;DP=73;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=43.18;MQ0=0;MQRankSum=-4.595;QD=11.28;ReadPosRankSum=0.459;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000437584 GT:AD:DP:GQ:PL 0/1:39,34:73:99:854,0,1302
1 12898378 rs57957396 C G 1237.68 PASS AB=0.658;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.082;DB;DP=155;Dels=0.0;FS=5.461;HRun=0;HaplotypeScore=5.3084;MQ=49.46;MQ0=0;MQRankSum=2.692;QD=7.99;ReadPosRankSum=-0.109;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP5-845O24.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000438176 GT:AD:DP:GQ:PL 0/1:102,53:155:99:1268,0,2769
1 12898445 rs11121996 C A 3070.20 PASS AB=0.354;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.028;DB;DP=164;Dels=0.0;FS=5.074;HRun=0;HaplotypeScore=0.8321;MQ=51.26;MQ0=0;MQRankSum=1.763;QD=18.72;ReadPosRankSum=-1.357;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP5-845O24.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000438176 GT:AD:DP:GQ:PL 0/1:58,106:164:99:3100,0,1498
1 12898472 rs4301642 C T 4925.93 PASS AC=2;AF=1.00;AN=2;DB;DP=154;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.9383;MQ=52.54;MQ0=0;QD=31.99;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP5-845O24.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000438176 GT:AD:DP:GQ:PL 1/1:0,153:154:99:4926,391,0
1 12898484 rs147900704 G A 1065.23 PASS AB=0.696;AC=1;AF=0.50;AN=2;BaseQRankSum=0.504;DB;DP=148;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.5362;MQ=52.89;MQ0=0;MQRankSum=0.175;QD=7.2;ReadPosRankSum=-0.258;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP5-845O24.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000438176 GT:AD:DP:GQ:PL 0/1:103,45:148:99:1095,0,3170
1 12898654 rs55954336 A G 1250.01 MQFilter40 AB=0.618;AC=1;AF=0.50;AN=2;BaseQRankSum=0.872;DB;DP=179;Dels=0.0;FS=2.345;HRun=0;HaplotypeScore=0.9159;MQ=38.58;MQ0=11;MQRankSum=-0.777;QD=6.98;ReadPosRankSum=0.872;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP5-845O24.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000438176 GT:AD:DP:GQ:PL 0/1:110,68:179:99:1280,0,2324
1 12898673 rs4453052 G T 1329.91 MQFilter40 AB=0.381;AC=1;AF=0.50;AN=2;BaseQRankSum=0.941;DB;DP=160;Dels=0.0;FS=27.729;HRun=1;HaplotypeScore=4.7472;MQ=31.53;MQ0=16;MQRankSum=-2.496;QD=8.31;ReadPosRankSum=2.876;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP5-845O24.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000438176 GT:AD:DP:GQ:PL 0/1:61,99:160:99:1360,0,1141
1 12898775 rs61775386 C G 1747.21 MQFilter40 AB=0.412;AC=1;AF=0.50;AN=2;BaseQRankSum=3.878;DB;DP=245;DS;Dels=0.0;FS=1.34;HRun=0;HaplotypeScore=2.5939;MQ=27.42;MQ0=48;MQRankSum=-3.986;QD=7.13;ReadPosRankSum=3.118;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP5-845O24.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000438176 GT:AD:DP:GQ:PL 0/1:101,144:245:99:1777,0,1798
1 12898778 rs61775387 T A 1734.97 MQFilter40 AB=0.408;AC=1;AF=0.50;AN=2;BaseQRankSum=2.231;DB;DP=239;DS;Dels=0.0;FS=2.98;HRun=0;HaplotypeScore=1.7273;MQ=27.78;MQ0=42;MQRankSum=-3.835;QD=7.26;ReadPosRankSum=2.668;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP5-845O24.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000438176 GT:AD:DP:GQ:PL 0/1:97,141:239:99:1765,0,1799
1 12898810 rs71647070 T C 35.31 MQFilter40;QDFilter2 AB=0.77;AC=1;AF=0.50;AN=2;BaseQRankSum=1.61;DB;DP=197;DS;Dels=0.0;FS=1.326;HRun=0;HaplotypeScore=5.1385;MQ=26.45;MQ0=42;MQRankSum=-4.334;QD=0.18;ReadPosRankSum=-1.079;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP5-845O24.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000438176 GT:AD:DP:GQ:PL 0/1:151,45:197:65.31:65,0,2888
1 12899057 rs9660384 C T 103.42 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=1.461;DB;DP=12;Dels=0.0;FS=7.123;HRun=0;HaplotypeScore=0.0;MQ=49.33;MQ0=0;MQRankSum=0.135;QD=8.62;ReadPosRankSum=-0.529;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP5-845O24.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000438176 GT:AD:DP:GQ:PL 0/1:7,5:12:99:133,0,235
1 12900004 rs140491439 A G 812.12 MQFilter40 AB=0.708;AC=1;AF=0.50;AN=2;BaseQRankSum=0.992;DB;DP=168;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.909;MQ=29.52;MQ0=22;MQRankSum=2.096;QD=4.83;ReadPosRankSum=-1.341;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP5-845O24.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000438176 GT:AD:DP:GQ:PL 0/1:119,49:168:99:842,0,2171
1 12907169 rs5027836 A G 35.33 QDFilter2 AB=0.756;AC=1;AF=0.50;AN=2;BaseQRankSum=3.523;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=40.91;MQ0=4;MQRankSum=-2.987;QD=0.86;ReadPosRankSum=-0.227;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HNRNPCL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317869 GT:AD:DP:GQ:PL 0/1:31,10:41:65.32:65,0,1032
1 12907212 rs5027838 T A 30.02 MQFilter40;QDFilter2 AB=0.719;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.868;DB;DP=89;Dels=0.0;FS=2.342;HRun=0;HaplotypeScore=1.7074;MQ=37.16;MQ0=6;MQRankSum=-5.66;QD=0.34;ReadPosRankSum=-1.517;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HNRNPCL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317869 GT:AD:DP:GQ:PL 0/1:64,25:89:60.01:60,0,1983
1 12907316 rs112607517 T C 157.20 HaplotypeScoreFilter13;QDFilter2 AB=0.778;AC=1;AF=0.50;AN=2;BaseQRankSum=0.868;DB;DP=198;Dels=0.0;FS=5.187;HRun=2;HaplotypeScore=13.1618;MQ=49.87;MQ0=4;MQRankSum=-8.946;QD=0.79;ReadPosRankSum=-5.481;SNPEFF_AMINO_ACID_CHANGE=E276G;SNPEFF_CODON_CHANGE=gAg/gGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_12907261_12908323;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HNRNPCL1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000317869 GT:AD:DP:GQ:PL 0/1:154,44:198:99:187,0,4846
1 12907777 rs28391533 T C 75.98 QDFilter2 AB=0.844;AC=1;AF=0.50;AN=2;BaseQRankSum=2.512;DB;DP=96;Dels=0.0;FS=39.876;HRun=2;HaplotypeScore=0.0;MQ=52.81;MQ0=1;MQRankSum=-5.485;QD=0.79;ReadPosRankSum=-0.462;SNPEFF_AMINO_ACID_CHANGE=G122;SNPEFF_CODON_CHANGE=ggA/ggG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_12907261_12908323;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HNRNPCL1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000317869 GT:AD:DP:GQ:PL 0/1:81,15:96:99:106,0,2748
1 12907781 rs28441396 T C 78.99 QDFilter2 AB=0.842;AC=1;AF=0.50;AN=2;BaseQRankSum=2.392;DB;DP=95;Dels=0.0;FS=37.454;HRun=1;HaplotypeScore=0.0;MQ=52.19;MQ0=1;MQRankSum=-5.329;QD=0.83;ReadPosRankSum=0.082;SNPEFF_AMINO_ACID_CHANGE=D121G;SNPEFF_CODON_CHANGE=gAt/gGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_12907261_12908323;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HNRNPCL1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000317869 GT:AD:DP:GQ:PL 0/1:80,15:95:99:109,0,2690
1 12907798 rs150096254 A C 129.12 QDFilter2;SnpCluster AB=0.812;AC=1;AF=0.50;AN=2;BaseQRankSum=4.366;DB;DP=102;Dels=0.0;FS=32.236;HRun=0;HaplotypeScore=0.9665;MQ=50.05;MQ0=1;MQRankSum=-5.563;QD=1.25;ReadPosRankSum=0.005;SNPEFF_AMINO_ACID_CHANGE=F115L;SNPEFF_CODON_CHANGE=ttT/ttG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_12907261_12908323;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HNRNPCL1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000317869 GT:AD:DP:GQ:PL 0/1:82,19:102:99:159,0,2686
1 12907802 rs138087690 C T 92.68 QDFilter2;SnpCluster AB=0.81;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.074;DB;DP=105;Dels=0.0;FS=34.505;HRun=0;HaplotypeScore=0.9665;MQ=49.79;MQ0=1;MQRankSum=-5.676;QD=0.88;ReadPosRankSum=0.062;SNPEFF_AMINO_ACID_CHANGE=G114D;SNPEFF_CODON_CHANGE=gGc/gAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_12907261_12908323;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HNRNPCL1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000317869 GT:AD:DP:GQ:PL 0/1:85,20:105:99:123,0,2761
1 12907803 rs141460546 C T 101.69 QDFilter2;SnpCluster AB=0.808;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.853;DB;DP=104;Dels=0.0;FS=31.19;HRun=0;HaplotypeScore=0.9665;MQ=49.9;MQ0=1;MQRankSum=-5.638;QD=0.98;ReadPosRankSum=-0.12;SNPEFF_AMINO_ACID_CHANGE=G114S;SNPEFF_CODON_CHANGE=Ggc/Agc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_12907261_12908323;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HNRNPCL1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000317869 GT:AD:DP:GQ:PL 0/1:84,20:104:99:132,0,2700
1 12907837 rs1736811 C T 693.96 PASS AB=0.694;AC=1;AF=0.50;AN=2;BaseQRankSum=2.045;DB;DP=134;Dels=0.0;FS=5.725;HRun=0;HaplotypeScore=2.9661;MQ=50.14;MQ0=5;MQRankSum=-2.878;QD=5.14;ReadPosRankSum=-1.101;SNPEFF_AMINO_ACID_CHANGE=A102;SNPEFF_CODON_CHANGE=gcG/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_12907261_12908323;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HNRNPCL1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000317869 GT:AD:DP:GQ:PL 0/1:93,41:134:99:724,0,2898
1 12907885 rs848418 T C 2867.04 PASS AB=0.413;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.539;DB;DP=168;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=3.7796;MQ=51.88;MQ0=4;MQRankSum=3.485;QD=17.07;ReadPosRankSum=0.899;SNPEFF_AMINO_ACID_CHANGE=A86;SNPEFF_CODON_CHANGE=gcA/gcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_12907261_12908323;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HNRNPCL1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000317869 GT:AD:DP:GQ:PL 0/1:69,98:168:99:2897,0,1756
1 12908236 rs1736809 G T 126.12 MQFilter40 AB=0.582;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.875;DB;DP=55;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=35.43;MQ0=5;MQRankSum=-3.19;QD=2.29;ReadPosRankSum=1.121;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_1_12907261_12908323;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HNRNPCL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317869 GT:AD:DP:GQ:PL 0/1:32,23:55:99:156,0,957
1 12908243 rs1736808 A G 224.17 MQFilter40 AB=0.537;AC=1;AF=0.50;AN=2;BaseQRankSum=4.26;DB;DP=54;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.9452;MQ=36.45;MQ0=5;MQRankSum=-2.569;QD=4.15;ReadPosRankSum=0.748;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_1_12907261_12908323;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HNRNPCL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317869 GT:AD:DP:GQ:PL 0/1:29,25:54:99:254,0,848
1 12908278 rs3860363 C A 37.59 MQFilter40;QDFilter2 AB=0.821;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.982;DB;DP=39;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.9159;MQ=37.43;MQ0=1;MQRankSum=-0.741;QD=0.96;ReadPosRankSum=-0.06;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_1_12907261_12908323;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HNRNPCL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317869 GT:AD:DP:GQ:PL 0/1:32,7:39:67.59:68,0,851
1 12908333 rs61775391 T C 214.59 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.308;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=44.79;MQ0=0;MQRankSum=-0.813;QD=13.41;ReadPosRankSum=-1.247;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HNRNPCL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317869 GT:AD:DP:GQ:PL 0/1:6,10:16:99:245,0,189
1 12919350 rs61775399 A G 318.93 HaplotypeScoreFilter13;SnpCluster AB=0.593;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.271;DB;DP=27;Dels=0.0;FS=3.442;HRun=0;HaplotypeScore=13.9351;MQ=50.24;MQ0=0;MQRankSum=2.344;QD=11.81;ReadPosRankSum=-0.913;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000240189 GT:AD:DP:GQ:PL 0/1:16,11:27:99:349,0,512
1 12919353 rs2179186 G T 133.77 HaplotypeScoreFilter13;SnpCluster AB=0.741;AC=1;AF=0.50;AN=2;BaseQRankSum=2.351;DB;DP=27;Dels=0.0;FS=4.559;HRun=0;HaplotypeScore=13.9351;MQ=49.41;MQ0=0;MQRankSum=-3.624;QD=4.95;ReadPosRankSum=1.909;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000240189 GT:AD:DP:GQ:PL 0/1:20,7:27:99:164,0,651
1 12919360 rs111283876 A T 143.42 HaplotypeScoreFilter13;SnpCluster AB=0.733;AC=1;AF=0.50;AN=2;BaseQRankSum=2.181;DB;DP=30;Dels=0.0;FS=7.593;HRun=3;HaplotypeScore=14.9085;MQ=48.83;MQ0=0;MQRankSum=-3.681;QD=4.78;ReadPosRankSum=1.852;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000240189 GT:AD:DP:GQ:PL 0/1:22,8:30:99:173,0,785
1 12919422 rs74056157 T C 119.19 PASS AB=0.782;AC=1;AF=0.50;AN=2;BaseQRankSum=1.62;DB;DP=55;Dels=0.0;FS=21.654;HRun=0;HaplotypeScore=0.0;MQ=47.9;MQ0=0;MQRankSum=-4.453;QD=2.17;ReadPosRankSum=0.805;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000240189 GT:AD:DP:GQ:PL 0/1:43,12:55:99:149,0,1471
1 12919423 rs74056158 G A 111.46 PASS AB=0.8;AC=1;AF=0.50;AN=2;BaseQRankSum=1.462;DB;DP=55;Dels=0.0;FS=15.915;HRun=1;HaplotypeScore=0.0;MQ=47.72;MQ0=0;MQRankSum=-4.072;QD=2.03;ReadPosRankSum=1.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000240189 GT:AD:DP:GQ:PL 0/1:44,11:55:99:141,0,1473
1 12921332 rs17039307 T C 247.85 QDFilter2 AB=0.832;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.597;DB;DP=179;Dels=0.0;FS=0.884;HRun=1;HaplotypeScore=2.9193;MQ=51.8;MQ0=9;MQRankSum=-5.78;QD=1.38;ReadPosRankSum=0.408;SNPEFF_AMINO_ACID_CHANGE=C375R;SNPEFF_CODON_CHANGE=Tgc/Cgc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_12921076_12921764;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000240189 GT:AD:DP:GQ:PL 0/1:149,30:179:99:278,0,4972
1 12921716 rs2994094 A G 89.57 MQFilter40;QDFilter2 AB=0.776;AC=1;AF=0.50;AN=2;BaseQRankSum=3.889;DB;DP=49;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9332;MQ=31.38;MQ0=2;MQRankSum=-3.528;QD=1.83;ReadPosRankSum=2.446;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000240189 GT:AD:DP:GQ:PL 0/1:38,11:49:99:120,0,986
1 12940016 rs55642883 C A 38.65 MQFilter40;QDFilter2 AB=0.853;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.418;DB;DP=116;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=4.0867;MQ=18.01;MQ0=23;MQRankSum=1.158;QD=0.33;ReadPosRankSum=0.939;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000235349 GT:AD:DP:GQ:PL 0/1:99,17:116:68.64:69,0,730
1 12940068 rs2994082 G A 126.91 MQFilter40 AB=0.833;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.111;DB;DP=60;Dels=0.0;FS=14.586;HRun=1;HaplotypeScore=0.0;MQ=34.51;MQ0=0;MQRankSum=0.051;QD=2.12;ReadPosRankSum=0.657;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000235349 GT:AD:DP:GQ:PL 0/1:50,10:60:99:157,0,1421
1 12940111 rs61429700 T C 145.72 MQFilter40 AB=0.743;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.057;DB;DP=35;Dels=0.0;FS=5.509;HRun=1;HaplotypeScore=3.9398;MQ=39.61;MQ0=0;MQRankSum=-1.831;QD=4.16;ReadPosRankSum=-0.019;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000235349 GT:AD:DP:GQ:PL 0/1:26,9:35:99:176,0,892
1 12940117 rs28459245 C G 215.51 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=0.954;DB;DP=33;Dels=0.0;FS=4.624;HRun=0;HaplotypeScore=5.9375;MQ=40.05;MQ0=0;MQRankSum=-2.601;QD=6.53;ReadPosRankSum=0.019;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000235349 GT:AD:DP:GQ:PL 0/1:21,12:33:99:246,0,712
1 12941438 rs61781963 G A 89.53 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.017;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=40.66;MQ0=0;MQRankSum=0.421;QD=11.19;ReadPosRankSum=-1.368;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000235349 GT:AD:DP:GQ:PL 0/1:4,4:8:99:120,0,121
1 12942119 rs75355616 C T 2759.16 MQFilter40 AB=0.428;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.809;DB;DP=250;DS;Dels=0.0;FS=2.941;HRun=1;HaplotypeScore=1.6208;MQ=27.15;MQ0=21;MQRankSum=-0.848;QD=11.04;ReadPosRankSum=-1.434;SNPEFF_AMINO_ACID_CHANGE=R144K;SNPEFF_CODON_CHANGE=aGa/aAa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_12941675_12942256;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000235349 GT:AD:DP:GQ:PL 0/1:107,143:250:99:2789,0,1658
1 12942289 rs2994081 C A 60.51 MQFilter40;QDFilter2 AB=0.739;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.47;DB;DP=249;DS;Dels=0.0;FS=51.018;HRun=1;HaplotypeScore=3.7034;MQ=18.85;MQ0=102;MQRankSum=-1.566;QD=0.24;ReadPosRankSum=0.434;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000235349 GT:AD:DP:GQ:PL 0/1:184,65:249:90.50:90,0,2740
1 12942306 rs2994080 C T 224.12 MQFilter40;QDFilter2 AB=0.71;AC=1;AF=0.50;AN=2;BaseQRankSum=4.02;DB;DP=231;DS;Dels=0.0;FS=11.478;HRun=2;HaplotypeScore=1.7987;MQ=20.29;MQ0=89;MQRankSum=-1.619;QD=0.97;ReadPosRankSum=-1.95;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000235349 GT:AD:DP:GQ:PL 0/1:164,67:231:99:254,0,2547
1 12942399 rs61781965 A G 433.16 MQFilter40 AB=0.59;AC=1;AF=0.50;AN=2;BaseQRankSum=4.652;DB;DP=85;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.181;MQ=33.74;MQ0=14;MQRankSum=0.993;QD=5.1;ReadPosRankSum=1.665;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000235349 GT:AD:DP:GQ:PL 0/1:49,34:85:99:463,0,1247
1 12942414 rs28438506 G T 379.93 MQFilter40 AB=0.656;AC=1;AF=0.50;AN=2;BaseQRankSum=3.532;DB;DP=61;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=3.775;MQ=36.58;MQ0=4;MQRankSum=-3.499;QD=6.23;ReadPosRankSum=-1.679;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000235349 GT:AD:DP:GQ:PL 0/1:40,21:61:99:410,0,1171
1 12942430 rs78990759 G C 169.57 MQFilter40 AB=0.78;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.41;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=39.83;MQ0=0;MQRankSum=-0.929;QD=4.14;ReadPosRankSum=-0.394;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000235349 GT:AD:DP:GQ:PL 0/1:32,9:41:99:200,0,1126
1 12942862 rs61778465 G C 1071.15 PASS AB=0.283;AC=1;AF=0.50;AN=2;BaseQRankSum=2.284;DB;DP=53;Dels=0.0;FS=18.201;HRun=1;HaplotypeScore=2.9627;MQ=53.69;MQ0=0;MQRankSum=-2.656;QD=20.21;ReadPosRankSum=-0.486;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000235349 GT:AD:DP:GQ:PL 0/1:15,38:53:99:1101,0,354
1 12943277 rs115845904 G A 909.87 PASS AB=0.647;AC=1;AF=0.50;AN=2;BaseQRankSum=-6.087;DB;DP=103;DS;Dels=0.0;FS=1.48;HRun=2;HaplotypeScore=2.8662;MQ=57.0;MQ0=0;MQRankSum=-0.344;QD=8.83;ReadPosRankSum=-1.613;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000235349 GT:AD:DP:GQ:PL 0/1:66,36:103:99:940,0,2278
1 12952966 rs144302450 G A 54.74 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=29.0;MQ0=0;QD=13.69;SNPEFF_AMINO_ACID_CHANGE=G402;SNPEFF_CODON_CHANGE=ggC/ggT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_12952727_12953305;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF10;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000235347 GT:AD:DP:GQ:PL 1/1:0,4:4:9.01:87,9,0
1 12952968 . C G 54.74 MQFilter40 AC=2;AF=1.00;AN=2;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=29.0;MQ0=0;QD=13.69;SNPEFF_AMINO_ACID_CHANGE=G402R;SNPEFF_CODON_CHANGE=Ggc/Cgc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_12952727_12953305;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF10;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000235347 GT:AD:DP:GQ:PL 1/1:0,4:4:9.01:87,9,0
1 12954490 rs149281133 A G 562.41 MQFilter40 AB=0.772;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.902;DB;DP=244;DS;Dels=0.0;FS=5.707;HRun=1;HaplotypeScore=6.8969;MQ=22.48;MQ0=30;MQRankSum=-1.337;QD=2.3;ReadPosRankSum=0.092;SNPEFF_AMINO_ACID_CHANGE=C265R;SNPEFF_CODON_CHANGE=Tgc/Cgc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_12954417_12954995;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF10;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000235347 GT:AD:DP:GQ:PL 0/1:186,55:244:99:592,0,2980
1 12979729 rs146836223 G A 386.49 MQFilter40;QDFilter2 AB=0.817;AC=1;AF=0.50;AN=2;BaseQRankSum=4.612;DB;DP=224;Dels=0.0;FS=2.944;HRun=0;HaplotypeScore=2.4282;MQ=27.13;MQ0=6;MQRankSum=-0.252;QD=1.73;ReadPosRankSum=-2.031;SNPEFF_AMINO_ACID_CHANGE=S307;SNPEFF_CODON_CHANGE=tcG/tcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_12979672_12980233;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF7;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000330881 GT:AD:DP:GQ:PL 0/1:183,41:224:99:416,0,3216
1 12979845 rs142026718 T C 36.60 MQFilter40;QDFilter2 AB=0.851;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.739;DB;DP=155;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.7599;MQ=22.43;MQ0=28;MQRankSum=-1.391;QD=0.24;ReadPosRankSum=0.108;SNPEFF_AMINO_ACID_CHANGE=V346A;SNPEFF_CODON_CHANGE=gTt/gCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_12979672_12980233;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF7;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000330881 GT:AD:DP:GQ:PL 0/1:131,23:155:66.59:67,0,2277
1 13001186 . C T 722.33 MQFilter40 AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=-6.889;DP=250;DS;Dels=0.0;FS=5.543;HRun=0;HaplotypeScore=3.4609;MQ=17.39;MQ0=107;MQRankSum=0.144;QD=2.89;ReadPosRankSum=2.202;SNPEFF_AMINO_ACID_CHANGE=C166Y;SNPEFF_CODON_CHANGE=tGc/tAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_13000814_13001395;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000355096 GT:AD:DP:GQ:PL 0/1:177,71:250:99:752,0,1563
1 13001312 rs76131424 C G 1435.48 MQFilter40 AB=0.687;AC=1;AF=0.50;AN=2;BaseQRankSum=3.345;DB;DP=250;DS;Dels=0.0;FS=4.714;HRun=1;HaplotypeScore=3.6481;MQ=28.67;MQ0=48;MQRankSum=-0.064;QD=5.74;ReadPosRankSum=-1.596;SNPEFF_AMINO_ACID_CHANGE=C124S;SNPEFF_CODON_CHANGE=tGc/tCc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_13000814_13001395;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000355096 GT:AD:DP:GQ:PL 0/1:171,78:250:99:1465,0,3228
1 13001418 rs150206676 C A 909.01 MQFilter40 AB=0.522;AC=1;AF=0.50;AN=2;BaseQRankSum=1.197;DB;DP=161;DS;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=6.542;MQ=17.74;MQ0=56;MQRankSum=2.011;QD=5.65;ReadPosRankSum=1.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355096 GT:AD:DP:GQ:PL 0/1:84,77:161:99:939,0,634
1 13001428 rs61779368 C A 441.43 MQFilter40 AB=0.604;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.822;DB;DP=159;DS;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.9445;MQ=17.68;MQ0=56;MQRankSum=-2.929;QD=2.78;ReadPosRankSum=-1.797;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355096 GT:AD:DP:GQ:PL 0/1:96,63:159:99:471,0,1016
1 13001445 rs61779369 C T 219.39 MQFilter40;QDFilter2 AB=0.657;AC=1;AF=0.50;AN=2;BaseQRankSum=4.539;DB;DP=140;DS;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=2.1188;MQ=17.44;MQ0=46;MQRankSum=-3.408;QD=1.57;ReadPosRankSum=-0.924;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355096 GT:AD:DP:GQ:PL 0/1:92,48:140:99:249,0,1013
1 13001465 . G T 94.33 MQFilter40;QDFilter2 AB=0.646;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.973;DP=113;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.6229;MQ=18.27;MQ0=37;MQRankSum=-4.021;QD=0.83;ReadPosRankSum=-0.139;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355096 GT:AD:DP:GQ:PL 0/1:73,40:113:99:124,0,1094
1 13001489 rs61779370 C G 808.83 MQFilter40 AB=0.317;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.242;DB;DP=82;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.891;MQ=18.86;MQ0=28;MQRankSum=2.935;QD=9.86;ReadPosRankSum=-0.048;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355096 GT:AD:DP:GQ:PL 0/1:26,56:82:66.03:839,0,66
1 13036447 . C G 188.42 MQFilter40;QDFilter2 AB=0.396;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.914;DP=250;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=8.38;MQ0=157;MQRankSum=-2.07;QD=0.75;ReadPosRankSum=-1.321;SNPEFF_AMINO_ACID_CHANGE=V173;SNPEFF_CODON_CHANGE=gtC/gtG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_13036222_13036800;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF22;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000376187 GT:AD:DP:GQ:PL 0/1:99,151:250:99:218,0,163
1 13036587 rs77788641 C T 2812.46 MQFilter40 AB=0.328;AC=1;AF=0.50;AN=2;BaseQRankSum=5.993;DB;DP=247;DS;Dels=0.0;FS=6.788;HRun=0;HaplotypeScore=1.445;MQ=21.67;MQ0=27;MQRankSum=-1.437;QD=11.39;ReadPosRankSum=-0.155;SNPEFF_AMINO_ACID_CHANGE=P220L;SNPEFF_CODON_CHANGE=cCg/cTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_13036222_13036800;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF22;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000376187 GT:AD:DP:GQ:PL 0/1:81,166:247:99:2842,0,959
1 13052589 rs71225489 A T 271.62 MQFilter40 AB=0.423;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.695;DB;DP=26;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9997;MQ=36.94;MQ0=2;MQRankSum=-2.897;QD=10.45;ReadPosRankSum=-1.506;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000376192 GT:AD:DP:GQ:PL 0/1:11,15:26:99:302,0,350
1 13052789 rs61780142 G A 1990.70 PASS AB=0.669;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.005;DB;DP=240;DS;Dels=0.0;FS=5.898;HRun=0;HaplotypeScore=3.5226;MQ=49.88;MQ0=0;MQRankSum=-0.545;QD=8.29;ReadPosRankSum=0.008;SNPEFF_AMINO_ACID_CHANGE=D70;SNPEFF_CODON_CHANGE=gaC/gaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_13052394_13052998;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WI2-3308P17.2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000436041 GT:AD:DP:GQ:PL 0/1:160,79:240:99:2021,0,5067
1 13052871 rs79792138 C T 1685.03 PASS AB=0.65;AC=1;AF=0.50;AN=2;BaseQRankSum=1.757;DB;DP=241;DS;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=5.6831;MQ=44.86;MQ0=6;MQRankSum=-2.431;QD=6.99;ReadPosRankSum=0.476;SNPEFF_AMINO_ACID_CHANGE=S43N;SNPEFF_CODON_CHANGE=aGc/aAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_13052394_13052998;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WI2-3308P17.2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000436041 GT:AD:DP:GQ:PL 0/1:156,84:241:99:1715,0,4516
1 13052907 rs72474524 T C 3910.69 PASS AB=0.313;AC=1;AF=0.50;AN=2;BaseQRankSum=-7.531;DB;DP=233;DS;Dels=0.0;FS=6.164;HRun=2;HaplotypeScore=7.8745;MQ=44.98;MQ0=5;MQRankSum=-3.791;QD=16.78;ReadPosRankSum=-0.076;SNPEFF_AMINO_ACID_CHANGE=Q31R;SNPEFF_CODON_CHANGE=cAg/cGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_13052394_13052998;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WI2-3308P17.2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000436041 GT:AD:DP:GQ:PL 0/1:73,160:233:99:3911,0,2069
1 13111821 . C G 548.48 MQFilter40 AB=0.414;AC=1;AF=0.50;AN=2;BaseQRankSum=0.425;DP=99;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=17.44;MQ0=41;MQRankSum=-0.713;QD=5.54;ReadPosRankSum=1.691;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000376182 GT:AD:DP:GQ:PL 0/1:41,58:99:99:578,0,402
1 13123381 . A G 145.28 MQFilter40;QDFilter2 AB=0.808;AC=1;AF=0.50;AN=2;BaseQRankSum=1.98;DP=73;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=19.73;MQ0=40;MQRankSum=-0.544;QD=1.99;ReadPosRankSum=-0.544;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP13-221M14.6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000512015 GT:AD:DP:GQ:PL 0/1:59,14:73:99:175,0,673
1 13123447 . A G 195.41 MQFilter40 AC=2;AF=1.00;AN=2;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=27.34;MQ0=1;QD=21.71;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP13-221M14.6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000512015 GT:AD:DP:GQ:PL 1/1:0,9:9:21.05:228,21,0
1 13123480 . A C 46.31 MQFilter40;QDFilter2 AB=0.788;AC=1;AF=0.50;AN=2;BaseQRankSum=0.361;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=13.5;MQ0=24;MQRankSum=1.881;QD=1.4;ReadPosRankSum=-1.159;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP13-221M14.6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000512015 GT:AD:DP:GQ:PL 0/1:26,7:33:76.30:76,0,111
1 13123802 . C T 35.78 MQFilter40;QDFilter2 AB=0.522;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.506;DP=113;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.5774;MQ=5.56;MQ0=92;MQRankSum=-1.752;QD=0.32;ReadPosRankSum=0.195;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP13-221M14.6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000512015 GT:AD:DP:GQ:PL 0/1:59,54:113:46.13:66,0,46
1 13125941 . C A 101.24 MQFilter40;QDFilter2;SnpCluster AC=2;AF=1.00;AN=2;DP=81;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=7.86;MQ0=67;QD=1.25;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP13-221M14.6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000512015 GT:AD:DP:GQ:PL 1/1:62,19:81:12.03:134,12,0
1 13125943 . G A 86.88 MQFilter40;QDFilter2;SnpCluster AC=2;AF=1.00;AN=2;DP=80;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=7.91;MQ0=66;QD=1.09;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP13-221M14.6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000512015 GT:AD:DP:GQ:PL 1/1:61,19:80:12.02:119,12,0
1 13125944 . C T 87.86 MQFilter40;QDFilter2;SnpCluster AC=2;AF=1.00;AN=2;DP=80;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=7.91;MQ0=66;QD=1.1;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP13-221M14.6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000512015 GT:AD:DP:GQ:PL 1/1:61,19:80:12.02:120,12,0
1 13125950 . C A 150.24 MQFilter40;QDFilter2;SnpCluster AC=2;AF=1.00;AN=2;DP=78;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=8.62;MQ0=62;QD=1.93;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP13-221M14.6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000512015 GT:AD:DP:GQ:PL 1/1:57,21:78:18.02:183,18,0
1 13141835 rs79437155 C T 542.41 MQFilter40 AB=0.16;AC=1;AF=0.50;AN=2;BaseQRankSum=1.001;DB;DP=25;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=30.75;MQ0=0;MQRankSum=0.63;QD=21.7;ReadPosRankSum=1.001;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP13-221M14.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000415919 GT:AD:DP:GQ:PL 0/1:4,21:25:36.46:572,0,36
1 13183165 . T C 138.68 QDFilter2 AB=0.828;AC=1;AF=0.50;AN=2;BaseQRankSum=0.869;DP=116;Dels=0.0;FS=35.808;HRun=0;HaplotypeScore=2.4904;MQ=48.0;MQ0=0;MQRankSum=-3.57;QD=1.2;ReadPosRankSum=-1.335;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP13-221M14.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000323770 GT:AD:DP:GQ:PL 0/1:96,20:116:99:169,0,2703
1 13183168 . A G 137.26 QDFilter2 AB=0.825;AC=1;AF=0.50;AN=2;BaseQRankSum=-6.341;DP=114;Dels=0.0;FS=32.516;HRun=0;HaplotypeScore=1.912;MQ=47.48;MQ0=0;MQRankSum=-3.341;QD=1.2;ReadPosRankSum=-1.293;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP13-221M14.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000323770 GT:AD:DP:GQ:PL 0/1:94,20:114:99:167,0,2662
1 13183176 rs115395118 C T 223.86 QDFilter2 AB=0.818;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.957;DB;DP=121;Dels=0.0;FS=41.801;HRun=1;HaplotypeScore=3.7521;MQ=43.97;MQ0=3;MQRankSum=-2.935;QD=1.85;ReadPosRankSum=-0.945;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP13-221M14.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000323770 GT:AD:DP:GQ:PL 0/1:99,22:121:99:254,0,2819
1 13183180 rs138475976 T C 258.99 PASS AB=0.813;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.319;DB;DP=123;Dels=0.0;FS=42.128;HRun=1;HaplotypeScore=5.7053;MQ=43.42;MQ0=4;MQRankSum=-2.856;QD=2.11;ReadPosRankSum=-0.813;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP13-221M14.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000323770 GT:AD:DP:GQ:PL 0/1:100,23:123:99:289,0,2908
1 13183195 rs140894230 A G 429.53 MQFilter40 AB=0.752;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.008;DB;DP=143;Dels=0.0;FS=56.127;HRun=0;HaplotypeScore=2.9266;MQ=39.27;MQ0=7;MQRankSum=-2.428;QD=3.0;ReadPosRankSum=-1.496;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP13-221M14.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000323770 GT:AD:DP:GQ:PL 0/1:106,35:143:99:460,0,2870
1 13183199 rs146955784 C G 475.59 MQFilter40 AB=0.747;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.655;DB;DP=146;Dels=0.0;FS=58.568;HRun=1;HaplotypeScore=0.0;MQ=38.54;MQ0=7;MQRankSum=-1.981;QD=3.26;ReadPosRankSum=-1.142;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP13-221M14.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000323770 GT:AD:DP:GQ:PL 0/1:109,37:146:99:506,0,3002
1 13183213 rs28373323 T A 679.51 FSFilter60;MQFilter40 AB=0.738;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.249;DB;DP=168;Dels=0.0;FS=67.371;HRun=0;HaplotypeScore=2.3657;MQ=36.11;MQ0=10;MQRankSum=-1.86;QD=4.04;ReadPosRankSum=0.754;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP13-221M14.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000323770 GT:AD:DP:GQ:PL 0/1:124,44:168:99:709,0,3175
1 13183243 rs138897759 T C 976.05 FSFilter60;MQFilter40;SnpCluster AB=0.701;AC=1;AF=0.50;AN=2;BaseQRankSum=2.646;DB;DP=211;Dels=0.0;FS=64.072;HRun=0;HaplotypeScore=1.5661;MQ=31.84;MQ0=18;MQRankSum=-2.301;QD=4.63;ReadPosRankSum=-1.193;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP13-221M14.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000323770 GT:AD:DP:GQ:PL 0/1:148,63:211:99:1006,0,3473
1 13183248 rs141472183 T A 613.79 FSFilter60;MQFilter40;SnpCluster AB=0.67;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.087;DB;DP=215;Dels=0.0;FS=75.899;HRun=0;HaplotypeScore=0.734;MQ=32.6;MQ0=18;MQRankSum=-1.282;QD=2.85;ReadPosRankSum=-2.641;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP13-221M14.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000323770 GT:AD:DP:GQ:PL 0/1:144,71:215:99:644,0,3411
1 13183249 rs139566100 C A 657.03 FSFilter60;MQFilter40;SnpCluster AB=0.664;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.357;DB;DP=214;Dels=0.0;FS=80.254;HRun=0;HaplotypeScore=0.0;MQ=32.86;MQ0=18;MQRankSum=-1.804;QD=3.07;ReadPosRankSum=-2.775;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP13-221M14.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000323770 GT:AD:DP:GQ:PL 0/1:142,72:214:99:687,0,3328
1 13183439 rs28713604 T C 3313.41 PASS AB=0.24;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.036;DB;DP=171;DS;Dels=0.0;FS=19.099;HRun=0;HaplotypeScore=2.3665;MQ=52.89;MQ0=2;MQRankSum=0.667;QD=19.38;ReadPosRankSum=-0.447;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP13-221M14.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000323770 GT:AD:DP:GQ:PL 0/1:41,130:171:99:3313,0,1076
1 13183468 . G A 152.43 QDFilter2 AB=0.876;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.272;DP=129;Dels=0.0;FS=10.598;HRun=0;HaplotypeScore=0.734;MQ=53.84;MQ0=1;MQRankSum=-0.933;QD=1.18;ReadPosRankSum=-0.803;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP13-221M14.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000323770 GT:AD:DP:GQ:PL 0/1:113,16:129:99:182,0,3738
1 13183511 rs72864546 T C 795.31 PASS AB=0.612;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.285;DB;DP=86;Dels=0.0;FS=33.305;HRun=1;HaplotypeScore=1.9995;MQ=51.87;MQ0=1;MQRankSum=-3.33;QD=9.25;ReadPosRankSum=-0.198;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP13-221M14.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000323770 GT:AD:DP:GQ:PL 0/1:52,33:86:99:825,0,1637
1 13183528 rs76937665 A C 357.61 SnpCluster AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.653;DB;DP=80;Dels=0.0;FS=19.643;HRun=0;HaplotypeScore=0.0;MQ=50.15;MQ0=1;MQRankSum=-4.527;QD=4.47;ReadPosRankSum=0.75;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP13-221M14.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000323770 GT:AD:DP:GQ:PL 0/1:56,24:80:99:388,0,1746
1 13183532 rs77505369 C T 282.52 SnpCluster AB=0.743;AC=1;AF=0.50;AN=2;BaseQRankSum=0.396;DB;DP=74;Dels=0.0;FS=18.384;HRun=0;HaplotypeScore=0.0;MQ=50.39;MQ0=0;MQRankSum=-4.708;QD=3.82;ReadPosRankSum=1.515;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP13-221M14.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000323770 GT:AD:DP:GQ:PL 0/1:55,19:74:99:313,0,1690
1 13183533 rs77556803 C T 283.49 SnpCluster AB=0.747;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.401;DB;DP=75;Dels=0.0;FS=14.754;HRun=0;HaplotypeScore=0.8321;MQ=50.53;MQ0=0;MQRankSum=-4.529;QD=3.78;ReadPosRankSum=1.497;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP13-221M14.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000323770 GT:AD:DP:GQ:PL 0/1:56,19:75:99:313,0,1679
1 13183973 rs3929664 G A 92.31 MQFilter40 AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.838;DB;DP=18;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.6584;MQ=31.81;MQ0=2;MQRankSum=-1.838;QD=5.13;ReadPosRankSum=1.733;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP13-221M14.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000449855 GT:AD:DP:GQ:PL 0/1:8,10:18:99:122,0,242
1 13218904 rs2486712 T A 152.65 MQFilter40;QDFilter2 AB=0.584;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.57;DB;DP=166;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=7.22;MQ0=129;MQRankSum=0.35;QD=0.92;ReadPosRankSum=1.539;SNPEFF_EFFECT=INTRAGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WI2-2994D6.2;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 0/1:97,69:166:99:183,0,150
1 13219094 . G T 88.56 MQFilter40;QDFilter2 AB=0.843;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.002;DP=250;DS;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=4.5177;MQ=11.11;MQ0=137;MQRankSum=0.998;QD=0.35;ReadPosRankSum=0.709;SNPEFF_EFFECT=INTRAGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WI2-2994D6.2;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 0/1:209,39:250:99:119,0,1404
1 13219149 rs61780824 G A 115.83 MQFilter40;QDFilter2 AB=0.802;AC=1;AF=0.50;AN=2;BaseQRankSum=0.803;DB;DP=248;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9159;MQ=11.07;MQ0=128;MQRankSum=1.479;QD=0.47;ReadPosRankSum=0.829;SNPEFF_EFFECT=INTRAGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WI2-2994D6.2;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 0/1:199,49:248:99:146,0,1053
1 13353794 . T C 78.31 MQFilter40;QDFilter2 AB=0.811;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.509;DP=111;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=5.775;MQ=7.38;MQ0=82;MQRankSum=1.091;QD=0.71;ReadPosRankSum=-0.72;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP11-248D7.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000453094 GT:AD:DP:GQ:PL 0/1:90,21:111:68.63:108,0,69
1 13353900 . C T 263.66 MQFilter40 AB=0.408;AC=1;AF=0.50;AN=2;BaseQRankSum=1.305;DP=120;Dels=0.0;FS=3.976;HRun=0;HaplotypeScore=7.8933;MQ=12.82;MQ0=64;MQRankSum=0.247;QD=2.2;ReadPosRankSum=-1.152;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP11-248D7.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000453094 GT:AD:DP:GQ:PL 0/1:49,71:120:99:294,0,312
1 13353910 . G C 68.63 MQFilter40;QDFilter2 AB=0.916;AC=1;AF=0.50;AN=2;BaseQRankSum=0.428;DP=131;Dels=0.0;FS=3.976;HRun=0;HaplotypeScore=7.8933;MQ=12.08;MQ0=77;MQRankSum=0.274;QD=0.52;ReadPosRankSum=1.458;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP11-248D7.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000453094 GT:AD:DP:GQ:PL 0/1:120,11:131:98.63:99,0,542
1 13353963 . G A 32.36 MQFilter40;QDFilter2 AB=0.645;AC=1;AF=0.50;AN=2;BaseQRankSum=3.625;DP=110;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=8.92;MQ0=78;MQRankSum=0.755;QD=0.29;ReadPosRankSum=-0.038;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP11-248D7.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000453094 GT:AD:DP:GQ:PL 0/1:71,39:110:62.35:62,0,136
1 13354089 . T G 90.53 MQFilter40;QDFilter2 AB=0.794;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.674;DP=170;Dels=0.0;FS=1.087;HRun=0;HaplotypeScore=0.0;MQ=20.33;MQ0=24;MQRankSum=-2.041;QD=0.53;ReadPosRankSum=-0.959;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP11-248D7.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000453094 GT:AD:DP:GQ:PL 0/1:135,35:170:99:121,0,2398
1 13365776 . C G 137.19 MQFilter40 AC=2;AF=1.00;AN=2;BaseQRankSum=0.401;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=14.66;MQ0=8;MQRankSum=0.668;QD=6.53;ReadPosRankSum=0.935;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000376168 GT:AD:DP:GQ:PL 1/1:5,16:21:4.24:168,4,0
1 13368030 . C T 56.50 MQFilter40;QDFilter2 AB=0.606;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.219;DP=33;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=9.4;MQ0=24;MQRankSum=-0.361;QD=1.71;ReadPosRankSum=0.876;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000376168 GT:AD:DP:GQ:PL 0/1:20,13:33:63.82:86,0,64
1 13413926 . A G 31.84 MQFilter40;QDFilter2 AB=0.652;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.939;DP=138;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=7.26;MQ0=102;MQRankSum=-0.111;QD=0.23;ReadPosRankSum=-1.512;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unitary_pseudogene;SNPEFF_GENE_NAME=RP11-219C24.6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000437300 GT:AD:DP:GQ:PL 0/1:90,48:138:61.83:62,0,129
1 13414034 . G A 185.14 MQFilter40;QDFilter2 AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=3.289;DP=210;Dels=0.0;FS=5.438;HRun=0;HaplotypeScore=0.9789;MQ=14.44;MQ0=94;MQRankSum=-0.421;QD=0.88;ReadPosRankSum=-0.98;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unitary_pseudogene;SNPEFF_GENE_NAME=RP11-219C24.6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000437300 GT:AD:DP:GQ:PL 0/1:150,60:210:99:215,0,1363
1 13414059 rs141192612 C T 650.49 HaplotypeScoreFilter13;MQFilter40 AB=0.743;AC=1;AF=0.50;AN=2;BaseQRankSum=0.552;DB;DP=241;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=29.1469;MQ=18.21;MQ0=65;MQRankSum=-0.129;QD=2.7;ReadPosRankSum=1.108;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unitary_pseudogene;SNPEFF_GENE_NAME=RP11-219C24.6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000437300 GT:AD:DP:GQ:PL 0/1:179,62:241:99:680,0,2098
1 13414069 . G C 240.32 HaplotypeScoreFilter13;MQFilter40;QDFilter2 AB=0.822;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.01;DP=236;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=30.1134;MQ=18.61;MQ0=60;MQRankSum=2.305;QD=1.02;ReadPosRankSum=-0.134;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unitary_pseudogene;SNPEFF_GENE_NAME=RP11-219C24.6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000437300 GT:AD:DP:GQ:PL 0/1:194,42:236:99:270,0,2620
1 13414082 . T C 241.18 MQFilter40;QDFilter2 AB=0.8;AC=1;AF=0.50;AN=2;BaseQRankSum=1.991;DP=195;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.932;MQ=19.84;MQ0=33;MQRankSum=1.23;QD=1.24;ReadPosRankSum=3.051;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unitary_pseudogene;SNPEFF_GENE_NAME=RP11-219C24.6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000437300 GT:AD:DP:GQ:PL 0/1:156,39:195:99:271,0,2356
1 13414089 . G A 212.53 MQFilter40;QDFilter2 AB=0.831;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.854;DP=183;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9655;MQ=19.82;MQ0=36;MQRankSum=2.653;QD=1.16;ReadPosRankSum=4.416;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unitary_pseudogene;SNPEFF_GENE_NAME=RP11-219C24.6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000437300 GT:AD:DP:GQ:PL 0/1:152,31:183:99:243,0,2406
1 13448283 rs80327699 A G 1658.81 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=78;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.4105;MQ=26.46;MQ0=5;QD=21.27;SNPEFF_AMINO_ACID_CHANGE=L398;SNPEFF_CODON_CHANGE=Ttg/Ctg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_13447414_13448608;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF13;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000376132 GT:AD:DP:GQ:PL 1/1:0,78:78:99:1692,171,0
1 13448351 rs71183793 T C 530.12 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=119;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=12.66;MQ0=85;QD=4.45;SNPEFF_AMINO_ACID_CHANGE=H375R;SNPEFF_CODON_CHANGE=cAc/cGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_13447414_13448608;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF13;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000376132 GT:AD:DP:GQ:PL 1/1:38,81:119:57.08:563,57,0
1 13695685 . G A 331.44 MQFilter40;QDFilter2 AC=2;AF=1.00;AN=2;DP=207;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=6.73;MQ0=181;QD=1.6;SNPEFF_AMINO_ACID_CHANGE=S358L;SNPEFF_CODON_CHANGE=tCg/tTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_13694889_13696098;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF19;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000376101 GT:AD:DP:GQ:PL 1/1:59,147:207:41.98:364,42,0
1 13695787 . C G 1176.17 MQFilter40 AC=2;AF=1.00;AN=2;DP=239;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9332;MQ=14.89;MQ0=123;QD=4.92;SNPEFF_AMINO_ACID_CHANGE=G324A;SNPEFF_CODON_CHANGE=gGt/gCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_13694889_13696098;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF19;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000376101 GT:AD:DP:GQ:PL 1/1:68,171:239:99:1209,120,0
1 13695816 rs148990958 G A 2918.10 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=250;DS;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=1.9157;MQ=22.1;MQ0=77;QD=11.67;SNPEFF_AMINO_ACID_CHANGE=C314;SNPEFF_CODON_CHANGE=tgC/tgT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_13694889_13696098;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF19;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000376101 GT:AD:DP:GQ:PL 1/1:49,201:250:99:2951,279,0
1 13695974 rs142734546 T C 257.19 MQFilter40;QDFilter2 AC=2;AF=1.00;AN=2;DB;DP=209;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=13.54;MQ0=80;QD=1.23;SNPEFF_AMINO_ACID_CHANGE=T262A;SNPEFF_CODON_CHANGE=Aca/Gca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_13694889_13696098;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF19;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000376101 GT:AD:DP:GQ:PL 1/1:74,134:209:29.98:290,30,0
1 13696047 . A T 37.98 MQFilter40;QDFilter2 AC=2;AF=1.00;AN=2;DP=129;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=10.2;MQ0=70;QD=0.29;SNPEFF_AMINO_ACID_CHANGE=D237E;SNPEFF_CODON_CHANGE=gaT/gaA;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_13694889_13696098;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF19;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000376101 GT:AD:DP:GQ:PL 1/1:62,67:129:8.96:70,9,0
1 13696054 . G A 37.98 MQFilter40;QDFilter2 AC=2;AF=1.00;AN=2;DP=122;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=9.86;MQ0=71;QD=0.31;SNPEFF_AMINO_ACID_CHANGE=S235F;SNPEFF_CODON_CHANGE=tCc/tTc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_13694889_13696098;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF19;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000376101 GT:AD:DP:GQ:PL 1/1:64,58:122:8.96:70,9,0
1 13696090 . T C 64.19 MQFilter40;QDFilter2 AC=2;AF=1.00;AN=2;DP=85;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=8.74;MQ0=59;QD=0.76;SNPEFF_AMINO_ACID_CHANGE=K223R;SNPEFF_CODON_CHANGE=aAg/aGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_13694889_13696098;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF19;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000376101 GT:AD:DP:GQ:PL 1/1:50,35:85:11.96:97,12,0
1 13719052 rs141370897 T G 221.52 MQFilter40 AB=0.458;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.852;DB;DP=24;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8667;MQ=32.92;MQ0=4;MQRankSum=1.172;QD=9.23;ReadPosRankSum=-0.038;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRAMEF17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000376098 GT:AD:DP:GQ:PL 0/1:11,13:24:99:252,0,331
1 13802224 rs3795750 G A 205.87 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.04;MQ0=0;QD=34.31;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRC38;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000376085 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:239,18,0
1 13802325 rs3013105 T C 916.01 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9867;MQ=59.28;MQ0=0;QD=28.63;SNPEFF_AMINO_ACID_CHANGE=K292E;SNPEFF_CODON_CHANGE=Aag/Gag;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_13801445_13802567;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRC38;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000376085 GT:AD:DP:GQ:PL 1/1:0,32:32:72.21:949,72,0
1 13802437 rs3013106 G A 376.66 PASS AB=0.483;AC=1;AF=0.50;AN=2;BaseQRankSum=0.676;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=-1.157;QD=12.99;ReadPosRankSum=-0.065;SNPEFF_AMINO_ACID_CHANGE=S254;SNPEFF_CODON_CHANGE=tcC/tcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_13801445_13802567;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRC38;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000376085 GT:AD:DP:GQ:PL 0/1:14,15:29:99:407,0,463
1 13910417 rs355025 C T 900.26 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.04;SNPEFF_AMINO_ACID_CHANGE=P30;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_13910328_13910595;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDPN;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000510906 GT:AD:DP:GQ:PL 1/1:0,29:29:72.23:933,72,0
1 13936822 rs404658 G T 267.17 PASS AB=0.649;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.502;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.384;QD=7.22;ReadPosRankSum=-0.239;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDPN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294489 GT:AD:DP:GQ:PL 0/1:24,13:37:99:297,0,863
1 13937089 rs2487643 G T 425.04 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.049;DB;DP=27;Dels=0.0;FS=3.123;HRun=0;HaplotypeScore=0.0;MQ=59.31;MQ0=0;MQRankSum=0.464;QD=15.74;ReadPosRankSum=-0.073;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDPN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294489 GT:AD:DP:GQ:PL 0/1:12,15:27:99:455,0,408
1 13940014 rs1767681 C T 65.89 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.221;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=0.322;QD=8.24;ReadPosRankSum=0.956;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDPN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294489 GT:AD:DP:GQ:PL 0/1:5,3:8:95.89:96,0,178
1 13940864 rs2486188 C G 776.09 PASS AB=0.597;AC=1;AF=0.50;AN=2;BaseQRankSum=3.354;DB;DP=67;Dels=0.0;FS=3.557;HRun=1;HaplotypeScore=1.6281;MQ=59.03;MQ0=0;MQRankSum=-0.77;QD=11.58;ReadPosRankSum=-0.047;SNPEFF_AMINO_ACID_CHANGE=A105G;SNPEFF_CODON_CHANGE=gCa/gGa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_13940795_13940906;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDPN;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000376061 GT:AD:DP:GQ:PL 0/1:40,27:67:99:806,0,1114
1 14143003 rs1046331 A G 1297.38 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.04;SNPEFF_AMINO_ACID_CHANGE=Q198R;SNPEFF_CODON_CHANGE=cAg/cGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_14142922_14143065;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRDM2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000376048 GT:AD:DP:GQ:PL 1/1:0,36:36:99:1330,105,0
1 14149396 rs2744681 G A 51.22 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.61;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRDM2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000235372 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
1 14149505 rs2697970 C A 281.36 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.17;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRDM2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000235372 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:314,24,0
1 14149601 rs2697969 C T 1020.98 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.21;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRDM2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000235372 GT:AD:DP:GQ:PL 1/1:0,29:29:78.26:1054,78,0
1 14149622 rs2697968 T C 1333.56 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.31;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRDM2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000235372 GT:AD:DP:GQ:PL 1/1:0,44:44:99:1367,102,0
1 14149844 rs1046333 T A 147.21 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.44;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRDM2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000235372 GT:AD:DP:GQ:PL 1/1:0,5:5:15.04:180,15,0
1 14220186 rs1358577 A G 215.47 PASS AB=0.524;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.584;DB;DP=21;Dels=0.0;FS=4.036;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.739;QD=10.26;ReadPosRankSum=0.528;SNPEFF_AMINO_ACID_CHANGE=N19S;SNPEFF_CODON_CHANGE=aAt/aGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_14219052_14220251;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf196;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000412667 GT:AD:DP:GQ:PL 0/1:11,10:21:99:245,0,349
1 15390200 rs41269413 A G 86.12 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=1.599;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9997;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=6.15;ReadPosRankSum=0.536;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KAZN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361144 GT:AD:DP:GQ:PL 0/1:9,5:14:99:116,0,244
1 15427934 rs10927676 C T 149.59 PASS AB=0.611;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.177;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.996;QD=8.31;ReadPosRankSum=-0.362;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KAZN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000376030 GT:AD:DP:GQ:PL 0/1:11,7:18:99:180,0,366
1 15428358 rs477953 T C 86.35 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.78;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KAZN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000376030 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:118,9,0
1 15438990 rs10803354 G A 115.57 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.589;DB;DP=8;Dels=0.0;FS=3.332;HRun=0;HaplotypeScore=0.9999;MQ=57.05;MQ0=0;MQRankSum=1.067;QD=14.45;ReadPosRankSum=-0.572;SNPEFF_AMINO_ACID_CHANGE=A706T;SNPEFF_CODON_CHANGE=Gca/Aca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_15438923_15439037;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KAZN;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000376030 GT:AD:DP:GQ:PL 0/1:2,6:8:65.40:146,0,65
1 15441275 rs1055412 C T 114.42 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=1.754;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.937;QD=16.35;ReadPosRankSum=-0.55;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KAZN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469734 GT:AD:DP:GQ:PL 0/1:3,4:7:56.72:144,0,57
1 15447444 rs41269425 C T 306.60 PASS AB=0.649;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.779;DB;DP=37;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.8318;MQ=60.0;MQ0=0;MQRankSum=0.207;QD=8.29;ReadPosRankSum=-0.239;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KAZN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000376030 GT:AD:DP:GQ:PL 0/1:24,13:37:99:337,0,757
1 15447498 rs1546906 A G 2299.62 PASS AC=2;AF=1.00;AN=2;DB;DP=70;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.85;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KAZN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000376030 GT:AD:DP:GQ:PL 1/1:0,69:70:99:2333,172,0
1 15494756 rs6677061 A G 39.56 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=13.19;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf195;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000376005 GT:AD:DP:GQ:PL 0/1:1,2:3:32.73:70,0,33
1 15495110 rs78615461 A G 1299.01 PASS AB=0.613;AC=1;AF=0.50;AN=2;BaseQRankSum=0.947;DB;DP=111;Dels=0.0;FS=2.504;HRun=1;HaplotypeScore=1.5317;MQ=60.0;MQ0=0;MQRankSum=-0.433;QD=11.7;ReadPosRankSum=0.112;SNPEFF_AMINO_ACID_CHANGE=Y88H;SNPEFF_CODON_CHANGE=Tat/Cat;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_15494970_15495273;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf195;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000376005 GT:AD:DP:GQ:PL 0/1:68,43:111:99:1329,0,2172
1 15497727 rs6429722 T C 265.88 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.54;SNPEFF_AMINO_ACID_CHANGE=R16;SNPEFF_CODON_CHANGE=cgA/cgG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_15497677_15497813;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf195;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000376005 GT:AD:DP:GQ:PL 1/1:0,9:9:21.07:299,21,0
1 15541537 rs3753314 C T 180.19 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.068;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.663;QD=12.87;ReadPosRankSum=1.406;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_1_15541391_15541927;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM51;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303840 GT:AD:DP:GQ:PL 0/1:7,7:14:99:210,0,249
1 15563404 rs1752027 G A 45.58 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.203;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9469;MQ=60.0;MQ0=0;MQRankSum=0.248;QD=5.06;ReadPosRankSum=-1.001;SNPEFF_EFFECT=INTERGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 0/1:6,3:9:75.57:76,0,216
1 15616183 rs487338 T C 108.05 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.731;QD=21.61;ReadPosRankSum=0.731;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=FHAD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462113 GT:AD:DP:GQ:PL 0/1:1,4:5:25.60:138,0,26
1 15639581 rs10489962 A G 425.40 PASS AB=0.622;AC=1;AF=0.50;AN=2;BaseQRankSum=1.58;DB;DP=45;Dels=0.0;FS=4.376;HRun=0;HaplotypeScore=0.0;MQ=59.49;MQ0=0;MQRankSum=0.176;QD=9.45;ReadPosRankSum=-0.246;SNPEFF_AMINO_ACID_CHANGE=I356M;SNPEFF_CODON_CHANGE=atA/atG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_15639553_15639683;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=FHAD1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000358897 GT:AD:DP:GQ:PL 0/1:28,17:45:99:455,0,940
1 15650784 rs3765354 T G 241.48 PASS AB=0.476;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.723;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.89;MQ0=0;MQRankSum=-0.988;QD=11.5;ReadPosRankSum=-0.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=FHAD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358897 GT:AD:DP:GQ:PL 0/1:10,11:21:99:271,0,313
1 15650791 rs3765355 G C 357.93 PASS AB=0.458;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.093;DB;DP=24;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9332;MQ=59.03;MQ0=0;MQRankSum=-0.651;QD=14.91;ReadPosRankSum=-0.341;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=FHAD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358897 GT:AD:DP:GQ:PL 0/1:11,13:24:99:388,0,339
1 15651062 rs3765356 A G 638.49 PASS AB=0.623;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.521;DB;DP=69;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.581;MQ=60.0;MQ0=0;MQRankSum=-0.74;QD=9.25;ReadPosRankSum=-0.688;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=FHAD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358897 GT:AD:DP:GQ:PL 0/1:43,26:69:99:668,0,1127
1 15653503 rs7532559 A G 104.41 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.219;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.876;QD=11.6;ReadPosRankSum=1.159;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=FHAD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358897 GT:AD:DP:GQ:PL 0/1:4,5:9:99:134,0,102
1 15653563 rs3765357 C T 261.62 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=12;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-2.589;QD=21.8;ReadPosRankSum=-1.109;SNPEFF_AMINO_ACID_CHANGE=H164;SNPEFF_CODON_CHANGE=caC/caT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_15653555_15653638;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=FHAD1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000401090 GT:AD:DP:GQ:PL 0/1:3,9:12:89.08:292,0,89
1 15668276 rs763821 G A 663.28 PASS AB=0.536;AC=1;AF=0.50;AN=2;BaseQRankSum=2.788;DB;DP=56;Dels=0.0;FS=10.268;HRun=1;HaplotypeScore=0.734;MQ=58.67;MQ0=0;MQRankSum=-0.045;QD=11.84;ReadPosRankSum=2.45;SNPEFF_AMINO_ACID_CHANGE=G651R;SNPEFF_CODON_CHANGE=Gga/Aga;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_15668232_15668389;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=FHAD1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000358897 GT:AD:DP:GQ:PL 0/1:30,26:56:99:693,0,969
1 15687059 rs4661330 A G 745.03 PASS AB=0.618;AC=1;AF=0.50;AN=2;BaseQRankSum=1.134;DB;DP=76;Dels=0.0;FS=6.675;HRun=1;HaplotypeScore=0.0;MQ=59.7;MQ0=0;MQRankSum=-0.422;QD=9.8;ReadPosRankSum=-1.134;SNPEFF_AMINO_ACID_CHANGE=E154G;SNPEFF_CODON_CHANGE=gAa/gGa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_15686974_15687199;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=FHAD1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000314668 GT:AD:DP:GQ:PL 0/1:47,29:76:99:775,0,1509
1 15709669 rs45598134 C T 731.60 PASS AB=0.297;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.168;DB;DP=37;Dels=0.0;FS=1.458;HRun=0;HaplotypeScore=0.9159;MQ=60.0;MQ0=0;MQRankSum=1.82;QD=19.77;ReadPosRankSum=0.515;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=FHAD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000314668 GT:AD:DP:GQ:PL 0/1:11,26:37:99:762,0,307
1 15714809 rs4661625 G C 34.69 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=41.96;MQ0=0;MQRankSum=0.736;QD=11.56;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=FHAD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000314668 GT:AD:DP:GQ:PL 1/1:1,2:3:6.02:66,6,0
1 15723843 rs2294490 G A 3335.65 PASS AC=2;AF=1.00;AN=2;DB;DP=96;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.7552;MQ=59.52;MQ0=0;QD=34.75;SNPEFF_AMINO_ACID_CHANGE=L1355;SNPEFF_CODON_CHANGE=ctG/ctA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_15723793_15724622;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=FHAD1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000417793 GT:AD:DP:GQ:PL 1/1:0,96:96:99:3336,244,0
1 15724033 rs2253372 A G 1116 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.509;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=0.839;QD=36.0;ReadPosRankSum=-0.615;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=FHAD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375998 GT:AD:DP:GQ:PL 1/1:1,30:31:51.71:1149,52,0
1 15754484 rs2473356 T C 74.23 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.268;DB;DP=10;Dels=0.0;FS=7.782;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.453;QD=7.42;ReadPosRankSum=0.103;SNPEFF_AMINO_ACID_CHANGE=L129;SNPEFF_CODON_CHANGE=Ttg/Ctg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_15754394_15754505;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EFHD2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000375975 GT:AD:DP:GQ:PL 0/1:5,5:10:99:104,0,177
1 15769876 rs79878581 G GC 9576.79 PASS AC=2;AF=1.00;AN=2;DB;DP=229;FS=0.0;HRun=2;HaplotypeScore=526.8949;IndelType=I;MQ=60.45;MQ0=0;QD=41.82;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CTRC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375943 GT:AD:DP:GQ:PL 1/1:3,225:229:99:9577,674,0
1 15772057 rs10927786 G T 199.87 PASS AB=0.524;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.852;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9995;MQ=58.89;MQ0=0;MQRankSum=-0.113;QD=9.52;ReadPosRankSum=0.189;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CTRC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000476813 GT:AD:DP:GQ:PL 0/1:11,10:21:99:230,0,312
1 15772933 rs555015 A G 77.97 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=19.49;ReadPosRankSum=0.727;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CTRC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000476813 GT:AD:DP:GQ:PL 0/1:1,3:4:18.55:108,0,19
1 15783096 rs34325326 GA G 217.42 PASS AC=2;AF=1.00;AN=2;DB;DP=10;FS=0.0;HRun=10;HaplotypeScore=68.3662;IndelType=D;MQ=37.32;MQ0=0;QD=21.74;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CELA2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359621 GT:AD:DP:GQ:PL 1/1:2,8:10:29.99:259,30,0
1 15783117 rs34442950 C CA 587.87 PASS AC=2;AF=1.00;AN=2;DB;DP=14;FS=0.0;HRun=1;HaplotypeScore=60.8904;IndelType=I;MQ=46.0;MQ0=0;QD=41.99;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CELA2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359621 GT:AD:DP:GQ:PL 1/1:0,14:14:42.14:630,42,0
1 15788269 rs3737696 A C 1731.67 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.57;MQ0=0;QD=32.07;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CELA2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000497590 GT:AD:DP:GQ:PL 1/1:0,54:54:99:1765,132,0
1 15789297 rs3815787 A C 689.24 PASS AB=0.453;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.071;DB;DP=53;Dels=0.0;FS=5.655;HRun=1;HaplotypeScore=0.9867;MQ=60.0;MQ0=0;MQRankSum=1.596;QD=13.0;ReadPosRankSum=-0.234;SNPEFF_AMINO_ACID_CHANGE=A136;SNPEFF_CODON_CHANGE=gcA/gcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_15789228_15789356;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CELA2A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000375924 GT:AD:DP:GQ:PL 0/1:24,29:53:99:719,0,740
1 15789446 rs3815788 C G 369.68 PASS AB=0.368;AC=1;AF=0.50;AN=2;BaseQRankSum=0.38;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.01;MQ0=0;MQRankSum=-0.127;QD=19.46;ReadPosRankSum=0.211;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CELA2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359621 GT:AD:DP:GQ:PL 0/1:7,12:19:99:400,0,236
1 15789450 rs3815789 T A 383.11 PASS AB=0.368;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.254;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.01;MQ0=0;MQRankSum=-0.127;QD=20.16;ReadPosRankSum=0.296;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CELA2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359621 GT:AD:DP:GQ:PL 0/1:7,12:19:99:413,0,233
1 15789861 rs7555510 T C 819.90 PASS AB=0.477;AC=1;AF=0.50;AN=2;BaseQRankSum=1.124;DB;DP=66;Dels=0.0;FS=3.854;HRun=1;HaplotypeScore=1.6006;MQ=48.11;MQ0=3;MQRankSum=-1.183;QD=12.42;ReadPosRankSum=0.429;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CELA2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000459653 GT:AD:DP:GQ:PL 0/1:31,34:66:99:850,0,907
1 15790013 rs3181471 G A 410.96 MQFilter40 AB=0.617;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.609;DB;DP=60;Dels=0.0;FS=9.605;HRun=0;HaplotypeScore=0.0;MQ=32.34;MQ0=13;MQRankSum=0.124;QD=6.85;ReadPosRankSum=0.236;SNPEFF_AMINO_ACID_CHANGE=L163;SNPEFF_CODON_CHANGE=ctG/ctA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_15789881_15790017;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CELA2A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000359621 GT:AD:DP:GQ:PL 0/1:37,23:60:99:441,0,798
1 15798316 rs4661632 C T 72.21 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=55.21;MQ0=0;QD=14.44;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CELA2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359621 GT:AD:DP:GQ:PL 1/1:0,5:5:12:105,12,0
1 15798317 rs4661633 A G 72.21 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.05;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CELA2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359621 GT:AD:DP:GQ:PL 1/1:0,4:4:12:105,12,0
1 15808198 rs7520335 C T 1240.13 PASS AB=0.522;AC=1;AF=0.50;AN=2;BaseQRankSum=3.078;DB;DP=92;Dels=0.0;FS=10.745;HRun=0;HaplotypeScore=0.9894;MQ=58.14;MQ0=0;MQRankSum=-0.784;QD=13.48;ReadPosRankSum=-0.59;SNPEFF_AMINO_ACID_CHANGE=R68C;SNPEFF_CODON_CHANGE=Cgt/Tgt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_15808140_15808244;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CELA2B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000375909 GT:AD:DP:GQ:PL 0/1:48,44:92:99:1270,0,1303
1 15808289 rs4661634 C T 681.23 PASS AB=0.476;AC=1;AF=0.50;AN=2;BaseQRankSum=0.818;DB;DP=42;Dels=0.0;FS=5.464;HRun=2;HaplotypeScore=0.0;MQ=59.11;MQ0=0;MQRankSum=-0.113;QD=16.22;ReadPosRankSum=-1.75;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CELA2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375909 GT:AD:DP:GQ:PL 0/1:20,22:42:99:711,0,653
1 15808702 rs4661635 C T 191.45 PASS AB=0.743;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.793;DB;DP=35;Dels=0.0;FS=1.478;HRun=0;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=-1.491;QD=5.47;ReadPosRankSum=-1.038;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CELA2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375909 GT:AD:DP:GQ:PL 0/1:26,9:35:99:221,0,760
1 15808767 rs3820071 G A 466.23 PASS AB=0.614;AC=1;AF=0.50;AN=2;BaseQRankSum=1.446;DB;DP=45;Dels=0.0;FS=1.205;HRun=0;HaplotypeScore=0.0;MQ=59.49;MQ0=0;MQRankSum=0.482;QD=10.36;ReadPosRankSum=-0.241;SNPEFF_AMINO_ACID_CHANGE=G79R;SNPEFF_CODON_CHANGE=Ggg/Agg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_15808760_15808888;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CELA2B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000375910 GT:AD:DP:GQ:PL 0/1:27,17:45:99:496,0,829
1 15808872 rs3766160 G A 307.78 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=0.023;DB;DP=28;Dels=0.0;FS=3.556;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.395;QD=10.99;ReadPosRankSum=0.487;SNPEFF_AMINO_ACID_CHANGE=D114N;SNPEFF_CODON_CHANGE=Gac/Aac;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_15808760_15808888;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CELA2B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000375910 GT:AD:DP:GQ:PL 0/1:16,12:28:99:338,0,528
1 15809036 rs3766161 G A 77.26 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.358;QD=15.45;ReadPosRankSum=0.358;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CELA2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000422901 GT:AD:DP:GQ:PL 0/1:2,3:5:64.98:107,0,65
1 15809706 rs12129367 T C 654.52 PASS AB=0.415;AC=1;AF=0.50;AN=2;BaseQRankSum=1.363;DB;DP=41;Dels=0.0;FS=1.979;HRun=0;HaplotypeScore=2.4676;MQ=52.24;MQ0=0;MQRankSum=1.072;QD=15.96;ReadPosRankSum=-1.442;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CELA2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000422901 GT:AD:DP:GQ:PL 0/1:17,24:41:99:685,0,494
1 15809876 rs10927792 G A 787.48 MQFilter40 AB=0.515;AC=1;AF=0.50;AN=2;BaseQRankSum=1.321;DB;DP=68;Dels=0.0;FS=3.754;HRun=0;HaplotypeScore=0.0;MQ=38.64;MQ0=7;MQRankSum=0.258;QD=11.58;ReadPosRankSum=0.164;SNPEFF_AMINO_ACID_CHANGE=T158;SNPEFF_CODON_CHANGE=acG/acA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_15809759_15809895;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CELA2B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000375910 GT:AD:DP:GQ:PL 0/1:35,33:68:99:817,0,713
1 15812432 rs6429745 A G 3877.39 PASS AC=2;AF=1.00;AN=2;DB;DP=125;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.63;MQ0=0;QD=31.02;SNPEFF_AMINO_ACID_CHANGE=Q177R;SNPEFF_CODON_CHANGE=cAg/cGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_15812396_15812541;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CELA2B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000375910 GT:AD:DP:GQ:PL 1/1:0,125:125:99:3877,304,0
1 15813751 rs2011159 C T 1207.80 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.63;MQ0=0;QD=35.52;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CASP9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000546424 GT:AD:DP:GQ:PL 1/1:0,33:34:93.28:1241,93,0
1 15813969 rs3737704 A C 626.20 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=3.97;DB;DP=49;Dels=0.0;FS=3.594;HRun=2;HaplotypeScore=0.0;MQ=59.53;MQ0=0;MQRankSum=-1.707;QD=12.78;ReadPosRankSum=-1.02;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CASP9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000333868 GT:AD:DP:GQ:PL 0/1:28,21:49:99:656,0,847
1 15814186 rs6667862 C T 40.99 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.95;MQ0=0;MQRankSum=1.026;QD=10.25;ReadPosRankSum=1.026;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CASP9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000333868 GT:AD:DP:GQ:PL 0/1:2,2:4:48.97:71,0,49
1 15820576 rs2020900 T A 122.47 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=1.495;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.922;QD=17.5;ReadPosRankSum=1.495;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CASP9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000447522 GT:AD:DP:GQ:PL 0/1:2,5:7:59.57:152,0,60
1 15832383 rs1800614 G T 396.08 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=1.967;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9469;MQ=58.89;MQ0=0;MQRankSum=0.579;QD=18.86;ReadPosRankSum=2.045;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CASP9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000546969 GT:AD:DP:GQ:PL 0/1:9,12:21:99:426,0,245
1 15832543 rs1052576 T C 490.95 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.245;DB;DP=44;Dels=0.0;FS=8.522;HRun=1;HaplotypeScore=1.6006;MQ=59.48;MQ0=0;MQRankSum=-0.377;QD=11.16;ReadPosRankSum=0.075;SNPEFF_AMINO_ACID_CHANGE=Q138R;SNPEFF_CODON_CHANGE=cAg/cGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_15832485_15832574;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CASP9;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000375890 GT:AD:DP:GQ:PL 0/1:22,22:44:99:521,0,640
1 15834297 rs2020903 G A 326.27 PASS AB=0.519;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.55;DB;DP=27;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9789;MQ=58.27;MQ0=0;MQRankSum=-1.333;QD=12.08;ReadPosRankSum=-0.517;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CASP9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000333868 GT:AD:DP:GQ:PL 0/1:14,13:27:99:356,0,410
1 15834491 rs4646032 G A 271.46 PASS AB=0.522;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.892;DB;DP=23;Dels=0.0;FS=3.203;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=2.246;QD=11.8;ReadPosRankSum=-1.323;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CASP9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000333868 GT:AD:DP:GQ:PL 0/1:12,11:23:99:301,0,441
1 15844615 rs1820204 A G 837 PASS AB=0.515;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.398;DB;DP=68;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=59.32;MQ0=0;MQRankSum=0.771;QD=12.31;ReadPosRankSum=-0.408;SNPEFF_AMINO_ACID_CHANGE=F136;SNPEFF_CODON_CHANGE=ttT/ttC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_15844605_15844890;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CASP9;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000333868 GT:AD:DP:GQ:PL 0/1:35,33:68:99:867,0,1030
1 15844926 rs1820205 C T 573.10 PASS AB=0.541;AC=1;AF=0.50;AN=2;BaseQRankSum=3.52;DB;DP=37;Dels=0.0;FS=11.389;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.777;QD=15.49;ReadPosRankSum=0.381;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CASP9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000333868 GT:AD:DP:GQ:PL 0/1:20,17:37:99:603,0,612
1 15860563 rs6703016 T A 38.78 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=12.93;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAJC16;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375838 GT:AD:DP:GQ:PL 0/1:1,2:3:32.20:69,0,32
1 15873386 rs7515244 A G 443.31 PASS AB=0.412;AC=1;AF=0.50;AN=2;BaseQRankSum=0.908;DB;DP=34;Dels=0.0;FS=3.622;HRun=0;HaplotypeScore=2.21;MQ=54.32;MQ0=0;MQRankSum=-0.332;QD=13.04;ReadPosRankSum=0.199;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAJC16;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375838 GT:AD:DP:GQ:PL 0/1:14,20:34:99:473,0,361
1 15874961 rs2295626 T A 322.89 PASS AB=0.476;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.021;DB;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=1.091;QD=14.68;ReadPosRankSum=0.528;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAJC16;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375838 GT:AD:DP:GQ:PL 0/1:10,11:22:99:353,0,356
1 15890342 rs138970347 CA C 91.36 PASS AB=0.727;AC=1;AF=0.50;AN=2;BaseQRankSum=1.336;DB;DP=40;FS=0.0;HRun=16;HaplotypeScore=246.0521;IndelType=D;MQ=53.3;MQ0=0;MQRankSum=-0.691;QD=2.28;ReadPosRankSum=-0.875;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAJC16;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375838 GT:AD:DP:GQ:PL 0/1:24,10:40:99:130,0,229
1 15893862 rs2042367 C T 39.26 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.231;QD=7.85;ReadPosRankSum=0.358;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGMAT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375826 GT:AD:DP:GQ:PL 0/1:2,3:5:69.04:69,0,69
1 15909547 rs6429756 G A 42.86 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=10.71;ReadPosRankSum=1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGMAT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375826 GT:AD:DP:GQ:PL 0/1:2,2:4:31.62:73,0,32
1 15909624 rs111921608 TGAGTACAG T 346.51 PASS AB=0.762;AC=1;AF=0.50;AN=2;BaseQRankSum=3.001;DB;DP=16;FS=0.0;HRun=0;HaplotypeScore=115.9891;IndelType=D;MQ=50.65;MQ0=0;MQRankSum=-3.123;QD=21.66;ReadPosRankSum=0.551;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGMAT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375826 GT:AD:DP:GQ:PL 0/1:11,5:16:99:386,0,1291
1 15909850 rs6429757 C G 120.94 PASS AB=0.65;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.109;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.6617;MQ=57.66;MQ0=0;MQRankSum=1.347;QD=6.05;ReadPosRankSum=-1.664;SNPEFF_AMINO_ACID_CHANGE=G105R;SNPEFF_CODON_CHANGE=Ggg/Cgg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_15909688_15909890;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGMAT;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000375826 GT:AD:DP:GQ:PL 0/1:13,7:20:99:151,0,464
1 15909895 rs6429758 A G 158.46 PASS AB=0.684;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.132;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9983;MQ=57.53;MQ0=0;MQRankSum=1.535;QD=8.34;ReadPosRankSum=1.272;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGMAT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375826 GT:AD:DP:GQ:PL 0/1:13,6:19:99:188,0,398
1 15910003 rs6429759 C T 67.80 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.358;QD=13.56;ReadPosRankSum=0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGMAT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375826 GT:AD:DP:GQ:PL 0/1:2,3:5:63.31:98,0,63
1 15910020 rs6429760 C T 76.74 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.231;QD=15.35;ReadPosRankSum=1.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGMAT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375826 GT:AD:DP:GQ:PL 0/1:2,3:5:62.06:107,0,62
1 15959886 rs3795762 C G 2420.51 PASS AB=0.431;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.614;DB;DP=130;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.7338;MQ=59.65;MQ0=0;MQRankSum=-0.646;QD=18.62;ReadPosRankSum=0.548;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DDI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000480945 GT:AD:DP:GQ:PL 0/1:56,74:130:99:2451,0,1856
1 15986479 . C T 1573.33 PASS AB=0.52;AC=1;AF=0.50;AN=2;BaseQRankSum=2.239;DP=123;Dels=0.0;FS=3.348;HRun=1;HaplotypeScore=0.6651;MQ=59.62;MQ0=0;MQRankSum=0.519;QD=12.79;ReadPosRankSum=-0.019;SNPEFF_AMINO_ACID_CHANGE=P39L;SNPEFF_CODON_CHANGE=cCt/cTt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_15986364_15988217;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RSC1A1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000345034 GT:AD:DP:GQ:PL 0/1:64,59:123:99:1603,0,2068
1 16053493 rs41393951 G A 336.22 PASS AB=0.48;AC=1;AF=0.50;AN=2;BaseQRankSum=2.475;DB;DP=25;Dels=0.0;FS=1.906;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.626;QD=13.45;ReadPosRankSum=-0.245;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEKHM2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375793 GT:AD:DP:GQ:PL 0/1:12,13:25:99:366,0,313
1 16055039 rs12724755 C T 50.09 PASS AB=0.8;AC=1;AF=0.50;AN=2;BaseQRankSum=0.217;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9989;MQ=60.0;MQ0=0;MQRankSum=0.65;QD=3.34;ReadPosRankSum=1.083;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEKHM2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375793 GT:AD:DP:GQ:PL 0/1:12,3:15:80.08:80,0,431
1 16055732 rs6429772 C T 41.96 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.537;DB;DP=6;Dels=0.0;FS=3.979;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=6.99;ReadPosRankSum=0.406;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEKHM2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375793 GT:AD:DP:GQ:PL 0/1:3,3:6:71.96:72,0,87
1 16056364 rs3817269 G A 1432.28 PASS AB=0.461;AC=1;AF=0.50;AN=2;BaseQRankSum=1.489;DB;DP=89;Dels=0.0;FS=5.504;HRun=0;HaplotypeScore=0.0;MQ=58.86;MQ0=0;MQRankSum=1.196;QD=16.09;ReadPosRankSum=-0.535;SNPEFF_AMINO_ACID_CHANGE=T696;SNPEFF_CODON_CHANGE=acG/acA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_16056292_16056424;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEKHM2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000375793 GT:AD:DP:GQ:PL 0/1:41,48:89:99:1462,0,1234
1 16064411 rs937592 T C 412.62 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=0.197;DB;DP=30;Dels=0.0;FS=5.684;HRun=1;HaplotypeScore=0.0;MQ=52.82;MQ0=0;MQRankSum=-1.908;QD=13.75;ReadPosRankSum=-1.381;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEKHM2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375793 GT:AD:DP:GQ:PL 0/1:14,16:30:99:443,0,397
1 16069644 rs11584945 C T 175 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.0;SNPEFF_AMINO_ACID_CHANGE=L97;SNPEFF_CODON_CHANGE=ctC/ctT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_16069515_16069689;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM82;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000375782 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:208,15,0
1 16096934 rs10927851 C T 1092.62 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.39;MQ0=0;QD=28.75;SNPEFF_AMINO_ACID_CHANGE=S191F;SNPEFF_CODON_CHANGE=tCc/tTc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_16096904_16097073;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FBLIM1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000375766 GT:AD:DP:GQ:PL 1/1:0,37:38:93.26:1126,93,0
1 16097237 rs10803398 G A 93.19 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.06;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FBLIM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000431771 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:125,9,0
1 16161867 rs4661662 A G 676.27 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.2;MQ0=0;QD=32.2;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RP11-169K16.9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317122 GT:AD:DP:GQ:PL 1/1:0,21:21:54.18:709,54,0
1 16162186 rs4661343 T C 457.01 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.85;MQ0=0;QD=30.47;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RP11-169K16.9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317122 GT:AD:DP:GQ:PL 1/1:0,15:15:39.11:490,39,0
1 16162412 rs35098215 A AGC 767.65 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.193;DB;DP=25;FS=12.553;HRun=0;HaplotypeScore=85.1158;IndelType=I;MQ=60.43;MQ0=0;MQRankSum=0.964;QD=30.71;ReadPosRankSum=1.542;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RP11-169K16.9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317122 GT:AD:DP:GQ:PL 1/1:9,15:25:22.38:810,22,0
1 16162471 rs4661666 C A 261.06 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.11;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RP11-169K16.9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317122 GT:AD:DP:GQ:PL 1/1:0,9:10:27.06:294,27,0
1 16256007 rs848209 T C 1762.76 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.26;SNPEFF_AMINO_ACID_CHANGE=L1091P;SNPEFF_CODON_CHANGE=cTa/cCa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_16254586_16262761;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPEN;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000375759 GT:AD:DP:GQ:PL 1/1:0,50:50:99:1796,132,0
1 16259813 rs848210 A G 676.15 PASS AB=0.518;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.771;DB;DP=56;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7306;MQ=60.0;MQ0=0;MQRankSum=-1.025;QD=12.07;ReadPosRankSum=-0.08;SNPEFF_AMINO_ACID_CHANGE=N2360D;SNPEFF_CODON_CHANGE=Aac/Gac;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_16254586_16262761;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPEN;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000375759 GT:AD:DP:GQ:PL 0/1:29,27:56:99:706,0,856
1 16263452 rs848212 A G 32.36 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=8.09;ReadPosRankSum=-0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZBTB17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375729 GT:AD:DP:GQ:PL 0/1:1,3:4:33.20:62,0,33
1 16264330 . C G 150.46 FSFilter60 AB=0.634;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.081;DP=71;Dels=0.0;FS=94.671;HRun=3;HaplotypeScore=0.9983;MQ=51.65;MQ0=0;MQRankSum=-4.131;QD=2.12;ReadPosRankSum=-1.377;SNPEFF_AMINO_ACID_CHANGE=G3511;SNPEFF_CODON_CHANGE=ggC/ggG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_16264307_16264501;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPEN;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000375759 GT:AD:DP:GQ:PL 0/1:45,26:71:99:180,0,1487
1 16265422 rs848214 A G 646.65 PASS AB=0.419;AC=1;AF=0.50;AN=2;BaseQRankSum=3.419;DB;DP=44;Dels=0.0;FS=7.144;HRun=1;HaplotypeScore=1.9158;MQ=60.0;MQ0=0;MQRankSum=0.546;QD=14.7;ReadPosRankSum=0.216;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZBTB17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375729 GT:AD:DP:GQ:PL 0/1:18,25:44:99:677,0,523
1 16272250 rs848217 A G 102.67 PASS AB=0.682;AC=1;AF=0.50;AN=2;BaseQRankSum=0.039;DB;DP=22;Dels=0.0;FS=2.128;HRun=1;HaplotypeScore=0.9789;MQ=60.0;MQ0=0;MQRankSum=1.596;QD=4.67;ReadPosRankSum=-0.584;SNPEFF_AMINO_ACID_CHANGE=A125;SNPEFF_CODON_CHANGE=gcT/gcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_16272210_16272335;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZBTB17;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000537142 GT:AD:DP:GQ:PL 0/1:15,7:22:99:133,0,467
1 16342237 rs1739840 A G 242.03 PASS AB=0.412;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.903;DB;DP=17;Dels=0.0;FS=2.246;HRun=1;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=1.513;QD=14.24;ReadPosRankSum=-0.049;SNPEFF_AMINO_ACID_CHANGE=T112;SNPEFF_CODON_CHANGE=acT/acC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_16340523_16342254;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HSPB7;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000411503 GT:AD:DP:GQ:PL 0/1:7,10:17:99:272,0,210
1 16342350 rs761759 A T 39.19 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=13.06;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HSPB7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000545268 GT:AD:DP:GQ:PL 0/1:1,2:3:30.29:69,0,30
1 16343835 rs1763596 C T 170.03 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=0.377;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.935;QD=13.08;ReadPosRankSum=0.312;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HSPB7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000311890 GT:AD:DP:GQ:PL 0/1:7,6:13:99:200,0,230
1 16344360 rs732286 A G 135.68 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=1.0;DB;DP=12;Dels=0.0;FS=2.533;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.529;QD=11.31;ReadPosRankSum=1.0;SNPEFF_AMINO_ACID_CHANGE=A121;SNPEFF_CODON_CHANGE=gcT/gcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_16344260_16345285;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HSPB7;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000375714 GT:AD:DP:GQ:PL 0/1:7,5:12:99:166,0,244
1 16344402 rs945416 G A 141.97 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.421;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.154;QD=10.14;ReadPosRankSum=-0.545;SNPEFF_AMINO_ACID_CHANGE=S107;SNPEFF_CODON_CHANGE=tcC/tcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_16344260_16345285;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HSPB7;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000375714 GT:AD:DP:GQ:PL 0/1:7,7:14:99:172,0,248
1 16344494 rs1572381 G A 70.65 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.72;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.39;MQ0=0;MQRankSum=-1.38;QD=7.85;ReadPosRankSum=-1.38;SNPEFF_AMINO_ACID_CHANGE=L77F;SNPEFF_CODON_CHANGE=Ctc/Ttc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_16344260_16345285;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HSPB7;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000375714 GT:AD:DP:GQ:PL 0/1:3,6:9:56.78:101,0,57
1 16344625 rs945417 C G 213.92 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.545;DB;DP=14;Dels=0.0;FS=4.593;HRun=0;HaplotypeScore=0.0;MQ=58.33;MQ0=0;MQRankSum=0.421;QD=15.28;ReadPosRankSum=0.663;SNPEFF_AMINO_ACID_CHANGE=R33T;SNPEFF_CODON_CHANGE=aGa/aCa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_16344260_16345285;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HSPB7;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000375714 GT:AD:DP:GQ:PL 0/1:7,7:14:99:244,0,202
1 16344664 rs872222 G A 139.65 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=0.143;DB;DP=11;Dels=0.0;FS=2.43;HRun=0;HaplotypeScore=0.0;MQ=57.87;MQ0=0;MQRankSum=0.387;QD=12.7;ReadPosRankSum=-0.143;SNPEFF_AMINO_ACID_CHANGE=A20V;SNPEFF_CODON_CHANGE=gCg/gTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_16344260_16345285;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HSPB7;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000375714 GT:AD:DP:GQ:PL 0/1:5,6:11:99:170,0,134
1 16351137 rs9442190 C G 103.76 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.731;QD=20.75;ReadPosRankSum=0.731;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CLCNKA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477360 GT:AD:DP:GQ:PL 0/1:1,4:5:27.63:134,0,28
1 16351275 rs10927887 A G 467.04 PASS AB=0.474;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.827;DB;DP=38;Dels=0.0;FS=5.133;HRun=3;HaplotypeScore=0.9983;MQ=60.0;MQ0=0;MQRankSum=0.95;QD=12.29;ReadPosRankSum=-0.833;SNPEFF_AMINO_ACID_CHANGE=R83G;SNPEFF_CODON_CHANGE=Agg/Ggg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_16351258_16351386;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CLCNKA;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000331433 GT:AD:DP:GQ:PL 0/1:18,20:38:99:497,0,533
1 16352492 rs11584665 G A 920.92 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=6.262;DB;DP=60;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.6975;MQ=60.0;MQ0=0;MQRankSum=-0.205;QD=15.35;ReadPosRankSum=0.812;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CLCNKA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477360 GT:AD:DP:GQ:PL 0/1:32,28:60:99:951,0,882
1 16352937 rs1010069 G A 102.72 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.922;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.63;MQ0=0;MQRankSum=-0.421;QD=12.84;ReadPosRankSum=0.922;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CLCNKA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477360 GT:AD:DP:GQ:PL 0/1:4,4:8:99:133,0,144
1 16353400 rs9442216 T C 48.77 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.406;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=45.0;MQ0=0;MQRankSum=1.537;QD=8.13;ReadPosRankSum=0.406;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CLCNKA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000495784 GT:AD:DP:GQ:PL 0/1:3,3:6:78.77:79,0,88
1 16354280 rs10927889 G C 30.47 MQFilter40;QDFilter2 AB=0.644;AC=1;AF=0.50;AN=2;BaseQRankSum=0.289;DB;DP=45;Dels=0.0;FS=5.643;HRun=1;HaplotypeScore=0.0;MQ=14.93;MQ0=33;MQRankSum=-1.134;QD=0.68;ReadPosRankSum=1.239;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CLCNKA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000495784 GT:AD:DP:GQ:PL 0/1:29,16:45:60.46:60,0,246
1 16356501 rs1805152 G A 162.57 PASS AB=0.579;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.362;DB;DP=19;Dels=0.0;FS=9.556;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.115;QD=8.56;ReadPosRankSum=0.206;SNPEFF_AMINO_ACID_CHANGE=A404T;SNPEFF_CODON_CHANGE=Gcc/Acc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_16356460_16356570;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CLCNKA;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000439316 GT:AD:DP:GQ:PL 0/1:11,8:19:99:193,0,360
1 16356583 rs3737218 C T 222.32 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=2.533;DB;DP=12;Dels=0.0;FS=3.802;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.309;QD=18.53;ReadPosRankSum=-1.309;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CLCNKA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491433 GT:AD:DP:GQ:PL 0/1:5,7:12:99:252,0,149
1 16358148 rs2015509 T C 244.35 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=0.933;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.311;QD=13.57;ReadPosRankSum=-1.644;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CLCNKA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491433 GT:AD:DP:GQ:PL 0/1:10,8:18:99:274,0,359
1 16358685 rs6669935 C G 183.05 PASS AB=0.68;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.902;DB;DP=25;Dels=0.0;FS=7.144;HRun=0;HaplotypeScore=0.0;MQ=58.13;MQ0=0;MQRankSum=-0.768;QD=7.32;ReadPosRankSum=1.036;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CLCNKA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491433 GT:AD:DP:GQ:PL 0/1:17,8:25:99:213,0,490
1 16358932 rs10803407 T C 641.27 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=0.651;DB;DP=52;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.5784;MQ=58.38;MQ0=0;MQRankSum=-0.184;QD=12.33;ReadPosRankSum=-0.748;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CLCNKA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491433 GT:AD:DP:GQ:PL 0/1:28,24:52:99:671,0,873
1 16359052 rs10927893 A G 674.47 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=15.33;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CLCNKA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491433 GT:AD:DP:GQ:PL 1/1:0,44:44:54.16:707,54,0
1 16359106 rs10803408 C T 202.89 PASS AB=0.409;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.755;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7128;MQ=57.87;MQ0=0;MQRankSum=-1.377;QD=9.22;ReadPosRankSum=0.844;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CLCNKA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491433 GT:AD:DP:GQ:PL 0/1:9,13:22:99:233,0,234
1 16359123 rs9442217 A G 331.83 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=1.358;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.39;MQ0=0;MQRankSum=-0.047;QD=18.43;ReadPosRankSum=-0.702;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CLCNKA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491433 GT:AD:DP:GQ:PL 0/1:6,12:18:99:362,0,189
1 16359827 rs3738633 A G 636.66 PASS AB=0.476;AC=1;AF=0.50;AN=2;BaseQRankSum=1.526;DB;DP=42;Dels=0.0;FS=3.118;HRun=6;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.474;QD=15.16;ReadPosRankSum=-0.143;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CLCNKA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491433 GT:AD:DP:GQ:PL 0/1:20,22:42:99:667,0,626
1 16361875 rs11807054 A G 35.63 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=23.68;MQ0=1;QD=11.88;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CLCNKA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331433 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:67,6,0
1 16361916 rs11811753 G A 52.51 MQFilter40 AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.727;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=34.09;MQ0=1;MQRankSum=-0.727;QD=10.5;ReadPosRankSum=0.727;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CLCNKA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331433 GT:AD:DP:GQ:PL 0/1:1,4:5:30.62:83,0,31
1 16362621 rs2009044 G A 47.98 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.46;MQ0=0;QD=23.99;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CLCNKA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331433 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
1 16363042 rs2008876 C T 236.34 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.648;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=51.51;MQ0=1;MQRankSum=-0.785;QD=9.85;ReadPosRankSum=0.58;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CLCNKA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331433 GT:AD:DP:GQ:PL 0/1:14,10:24:99:266,0,430
1 16363158 rs74057560 G A 104.79 PASS AB=0.71;AC=1;AF=0.50;AN=2;BaseQRankSum=1.337;DB;DP=31;Dels=0.0;FS=1.725;HRun=0;HaplotypeScore=0.0;MQ=47.6;MQ0=1;MQRankSum=-3.447;QD=3.38;ReadPosRankSum=-3.072;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CLCNKA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331433 GT:AD:DP:GQ:PL 0/1:22,9:31:99:135,0,683
1 16363237 rs143626665 C T 156.43 MQFilter40 AB=0.744;AC=1;AF=0.50;AN=2;BaseQRankSum=2.172;DB;DP=43;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.179;MQ=33.76;MQ0=6;MQRankSum=-1.077;QD=3.64;ReadPosRankSum=-1.317;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CLCNKA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331433 GT:AD:DP:GQ:PL 0/1:32,11:43:99:186,0,620
1 16366234 rs1815526 T G 62.34 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=40.49;MQ0=1;QD=15.58;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCNKB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331579 GT:AD:DP:GQ:PL 1/1:0,4:4:9.02:94,9,0
1 16371067 rs2015352 G T 176.20 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.37;SNPEFF_AMINO_ACID_CHANGE=R27L;SNPEFF_CODON_CHANGE=cGc/cTc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_16370981_16371087;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCNKB;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000331579 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:209,15,0
1 16371872 rs6604908 C G 44.89 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.45;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCNKB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331579 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:76,6,0
1 16371932 rs6604909 A C 173.97 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.79;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCNKB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331579 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:207,15,0
1 16372003 rs6604910 G C 468.85 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCNKB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331579 GT:AD:DP:GQ:PL 1/1:0,13:13:36.12:502,36,0
1 16372283 rs6604911 T G 110.12 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=8;HaplotypeScore=0.0;MQ=49.96;MQ0=0;QD=22.02;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCNKB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331579 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:143,12,0
1 16372911 rs2014848 G A 282.98 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCNKB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331579 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:316,24,0
1 16372971 rs2014841 G A 697.72 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.45;MQ0=0;QD=34.89;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCNKB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331579 GT:AD:DP:GQ:PL 1/1:0,20:20:57.18:731,57,0
1 16373124 rs5257 A G 1610.41 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=57.29;MQ0=0;QD=33.55;SNPEFF_AMINO_ACID_CHANGE=S108;SNPEFF_CODON_CHANGE=tcA/tcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_16373030_16373158;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCNKB;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000331579 GT:AD:DP:GQ:PL 1/1:0,48:48:99:1643,132,0
1 16373199 rs35820664 CCTT C 1953.64 PASS AC=2;AF=1.00;AN=2;DB;DP=43;FS=0.0;HRun=0;HaplotypeScore=267.1273;IndelType=D;MQ=56.9;MQ0=0;QD=45.43;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCNKB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331579 GT:AD:DP:GQ:PL 1/1:2,40:43:99:1996,117,0
1 16373282 rs2095540 A G 281.11 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=64.64;MQ0=0;QD=31.23;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCNKB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331579 GT:AD:DP:GQ:PL 1/1:0,9:9:24.08:314,24,0
1 16374185 rs869704 G A 91.49 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=53.44;MQ0=0;QD=30.5;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCNKB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331579 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:124,9,0
1 16374330 rs945403 A G 661.60 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=59.15;MQ0=0;QD=30.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCNKB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331579 GT:AD:DP:GQ:PL 1/1:0,22:22:60.14:695,60,0
1 16374533 rs2014562 G C 874.81 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9996;MQ=59.11;MQ0=0;QD=33.65;SNPEFF_AMINO_ACID_CHANGE=G164;SNPEFF_CODON_CHANGE=ggG/ggC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_16374400_16374539;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCNKB;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000331579 GT:AD:DP:GQ:PL 1/1:0,26:26:72.22:908,72,0
1 16374622 rs2863440 C G 255.49 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.94;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCNKB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331579 GT:AD:DP:GQ:PL 1/1:0,8:8:21.07:288,21,0
1 16374656 rs2902490 A G 200.07 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=56.82;MQ0=0;QD=33.35;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCNKB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331579 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:233,18,0
1 16374994 rs1889788 C T 1188.02 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=29.85;MQ0=16;QD=21.6;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCNKB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331579 GT:AD:DP:GQ:PL 1/1:13,42:55:99:1221,99,0
1 16375063 rs1889789 C G 144.60 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=41.31;MQ0=5;QD=3.61;SNPEFF_AMINO_ACID_CHANGE=A214G;SNPEFF_CODON_CHANGE=gCa/gGa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_16374999_16375077;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCNKB;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000375679 GT:AD:DP:GQ:PL 1/1:2,38:40:20.95:178,21,0
1 16375064 rs1889790 A C 109.16 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=41.98;MQ0=4;QD=2.87;SNPEFF_AMINO_ACID_CHANGE=A214;SNPEFF_CODON_CHANGE=gcA/gcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_16374999_16375077;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCNKB;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000375679 GT:AD:DP:GQ:PL 1/1:2,36:38:17.94:142,18,0
1 16375838 rs7545067 C G 283.20 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.11;MQ0=0;QD=28.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCNKB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331579 GT:AD:DP:GQ:PL 1/1:0,10:10:27.06:316,27,0
1 16376191 rs7367494 C T 877.78 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=21.1;MQ0=28;QD=15.13;SNPEFF_AMINO_ACID_CHANGE=A118V;SNPEFF_CODON_CHANGE=gCg/gTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_16376113_16376197;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCNKB;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000375667 GT:AD:DP:GQ:PL 1/1:18,40:58:81.22:911,81,0
1 16376230 rs59006537 A AT 1840.82 PASS AC=2;AF=1.00;AN=2;DB;DP=43;FS=0.0;HRun=0;HaplotypeScore=526.3656;IndelType=I;MQ=25.89;MQ0=11;QD=32.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCNKB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331579 GT:AD:DP:GQ:PL 1/1:12,44:43:99:1883,129,0
1 16376238 rs34589727 TC T 1534.25 PASS AC=2;AF=1.00;AN=2;DB;DP=52;FS=0.0;HRun=6;HaplotypeScore=682.1807;IndelType=D;MQ=30.84;MQ0=7;QD=25.15;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCNKB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331579 GT:AD:DP:GQ:PL 1/1:11,50:52:99:1576,147,0
1 16376278 rs7365182 G A 2342.66 PASS AC=2;AF=1.00;AN=2;DB;DP=70;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=46.8;MQ0=0;QD=33.47;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCNKB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331579 GT:AD:DP:GQ:PL 1/1:0,70:70:99:2376,196,0
1 16376319 rs7368151 T C 3839.23 PASS AC=2;AF=1.00;AN=2;DB;DP=116;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=50.21;MQ0=0;QD=33.1;SNPEFF_AMINO_ACID_CHANGE=C123;SNPEFF_CODON_CHANGE=tgT/tgC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_16376310_16376411;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCNKB;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000375667 GT:AD:DP:GQ:PL 1/1:0,115:116:99:3839,304,0
1 16376458 rs7368166 T C 1591.04 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.02;FS=0.0;HRun=6;HaplotypeScore=0.9665;MQ=52.75;MQ0=0;QD=31.82;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCNKB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331579 GT:AD:DP:GQ:PL 1/1:0,49:49:99:1624,135,0
1 16376719 rs10754899 A G 41.87 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.93;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCNKB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331579 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:73,6,0
1 16376831 rs10803412 C T 204.94 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.16;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCNKB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331579 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:238,18,0
1 16377108 rs35480349 G C 714.89 PASS AB=0.48;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.064;DB;DP=50;Dels=0.0;FS=3.126;HRun=0;HaplotypeScore=0.0;MQ=59.54;MQ0=0;MQRankSum=1.259;QD=14.3;ReadPosRankSum=1.445;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCNKB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331579 GT:AD:DP:GQ:PL 0/1:24,26:50:99:745,0,811
1 16377900 rs148467822 A G 386.82 PASS AB=0.578;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.409;DB;DP=45;Dels=0.0;FS=4.03;HRun=0;HaplotypeScore=0.0;MQ=59.59;MQ0=0;MQRankSum=0.484;QD=8.6;ReadPosRankSum=0.087;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCNKB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331579 GT:AD:DP:GQ:PL 0/1:26,19:45:99:417,0,933
1 16377935 rs6650117 A G 799.89 PASS AB=0.573;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.517;DB;DP=82;Dels=0.0;FS=3.657;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.627;QD=9.75;ReadPosRankSum=-0.167;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCNKB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331579 GT:AD:DP:GQ:PL 0/1:47,35:82:99:830,0,1475
1 16379008 rs2050522 C T 317.94 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.9;MQ0=0;QD=35.33;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCNKB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331579 GT:AD:DP:GQ:PL 1/1:0,9:9:27.08:351,27,0
1 16380196 rs5253 T C 1283.90 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.27;MQ0=0;QD=32.1;SNPEFF_AMINO_ACID_CHANGE=M393T;SNPEFF_CODON_CHANGE=aTg/aCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_16380134_16380267;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCNKB;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000375667 GT:AD:DP:GQ:PL 1/1:0,40:40:99:1317,105,0
1 16380243 rs2275166 A G 236.91 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=1.354;DB;DP=25;Dels=0.0;FS=9.379;HRun=0;HaplotypeScore=3.4099;MQ=53.71;MQ0=0;MQRankSum=-0.22;QD=9.48;ReadPosRankSum=0.157;SNPEFF_AMINO_ACID_CHANGE=K409E;SNPEFF_CODON_CHANGE=Aag/Gag;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_16380134_16380267;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCNKB;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000375667 GT:AD:DP:GQ:PL 0/1:15,9:25:99:267,0,403
1 16380252 rs2275167 C T 200.80 PASS AB=0.692;AC=1;AF=0.50;AN=2;BaseQRankSum=0.146;DB;DP=26;Dels=0.0;FS=8.888;HRun=1;HaplotypeScore=3.4099;MQ=54.78;MQ0=0;MQRankSum=-0.437;QD=7.72;ReadPosRankSum=1.252;SNPEFF_AMINO_ACID_CHANGE=L412;SNPEFF_CODON_CHANGE=Ctg/Ttg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_16380134_16380267;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCNKB;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000375667 GT:AD:DP:GQ:PL 0/1:18,8:26:99:231,0,492
1 16381792 rs12047858 T A 78.95 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.727;QD=19.74;ReadPosRankSum=0.727;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM131C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375662 GT:AD:DP:GQ:PL 0/1:1,3:4:28.61:109,0,29
1 16381816 rs12029508 C T 83.66 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=20.92;ReadPosRankSum=0.727;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM131C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375662 GT:AD:DP:GQ:PL 0/1:1,3:4:31.54:114,0,32
1 16382086 rs2297727 C T 176.87 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=0.101;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.101;QD=13.61;ReadPosRankSum=-1.493;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM131C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375662 GT:AD:DP:GQ:PL 0/1:6,7:13:99:207,0,208
1 16382791 rs12023153 G C 195.90 PASS AB=0.529;AC=1;AF=0.50;AN=2;BaseQRankSum=2.358;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=49.64;MQ0=0;MQRankSum=-3.031;QD=11.52;ReadPosRankSum=-1.876;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM131C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375662 GT:AD:DP:GQ:PL 0/1:9,8:17:99:226,0,265
1 16382827 rs77508204 CTCT C 659.57 PASS AB=0.727;AC=1;AF=0.50;AN=2;BaseQRankSum=5.287;DB;DP=40;FS=0.0;HRun=0;HaplotypeScore=450.1227;IndelType=D;MQ=49.96;MQ0=0;MQRankSum=-5.315;QD=16.49;ReadPosRankSum=1.698;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM131C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375662 GT:AD:DP:GQ:PL 0/1:25,15:40:99:699,0,1540
1 16382834 rs61769891 T A 320.72 HaplotypeScoreFilter13 AB=0.568;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.493;DB;DP=44;Dels=0.02;FS=0.0;HRun=0;HaplotypeScore=30.9283;MQ=48.6;MQ0=0;MQRankSum=-5.639;QD=7.13;ReadPosRankSum=0.166;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM131C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375662 GT:AD:DP:GQ:PL 0/1:25,19:44:99:351,0,899
1 16382877 rs7517792 A G 1673.68 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=51.54;MQ0=0;QD=26.99;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM131C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375662 GT:AD:DP:GQ:PL 1/1:0,62:62:99:1707,144,0
1 16382880 rs7512547 T A 884.29 PASS AB=0.478;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.316;DB;DP=67;Dels=0.0;FS=1.129;HRun=0;HaplotypeScore=0.8941;MQ=51.58;MQ0=0;MQRankSum=5.395;QD=13.2;ReadPosRankSum=1.854;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM131C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375662 GT:AD:DP:GQ:PL 0/1:32,35:67:99:914,0,827
1 16383267 rs12728542 A G 275.67 PASS AB=0.437;AC=1;AF=0.50;AN=2;BaseQRankSum=0.212;DB;DP=16;Dels=0.0;FS=3.59;HRun=0;HaplotypeScore=0.0;MQ=48.92;MQ0=0;MQRankSum=-1.27;QD=17.23;ReadPosRankSum=-0.635;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM131C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375662 GT:AD:DP:GQ:PL 0/1:7,9:16:99:306,0,230
1 16383329 . T TC 721.89 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.226;DP=28;FS=0.0;HRun=6;HaplotypeScore=236.0082;IndelType=I;MQ=34.63;MQ0=5;MQRankSum=-0.377;QD=18.51;ReadPosRankSum=1.432;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM131C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375662 GT:AD:DP:GQ:PL 1/1:8,31:28:56.46:764,56,0
1 16383336 rs12746138 G C 69.98 HaplotypeScoreFilter13;MQFilter40;QDFilter2 AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=6;HaplotypeScore=21.9716;MQ=33.62;MQ0=5;QD=1.89;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM131C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375662 GT:AD:DP:GQ:PL 1/1:0,37:37:11.97:102,12,0
1 16383348 rs61769892 C T 183.80 MQFilter40 AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.117;DB;DP=36;Dels=0.0;FS=4.075;HRun=0;HaplotypeScore=6.2009;MQ=32.62;MQ0=5;MQRankSum=-0.502;QD=5.11;ReadPosRankSum=0.72;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM131C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375662 GT:AD:DP:GQ:PL 0/1:18,18:36:99:214,0,324
1 16383448 rs10803415 A C 679.40 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.5784;MQ=37.92;MQ0=2;QD=22.65;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM131C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375662 GT:AD:DP:GQ:PL 1/1:0,30:30:60.15:712,60,0
1 16383515 rs12402924 C T 51.64 MQFilter40 AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=30.5;MQ0=0;MQRankSum=0.358;QD=10.33;ReadPosRankSum=0.358;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM131C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375662 GT:AD:DP:GQ:PL 0/1:2,3:5:25.77:82,0,26
1 16383581 rs1057844 G T 122.96 PASS AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=6;Dels=0.0;FS=4.771;HRun=1;HaplotypeScore=0.0;MQ=41.62;MQ0=0;MQRankSum=0.736;QD=20.49;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM131C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375662 GT:AD:DP:GQ:PL 0/1:1,5:6:15.39:153,0,15
1 16383605 rs1057845 A G 134.90 PASS AB=0.143;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.742;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=41.41;MQ0=0;MQRankSum=0.742;QD=19.27;ReadPosRankSum=-0.742;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM131C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375662 GT:AD:DP:GQ:PL 0/1:1,6:7:15.38:165,0,15
1 16383668 rs6660218 T G 201.02 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=37.14;MQ0=0;QD=28.72;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM131C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375662 GT:AD:DP:GQ:PL 1/1:0,7:7:18.06:234,18,0
1 16383682 rs1057854 G C 58.17 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=1.214;DB;DP=10;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=42.69;MQ0=0;MQRankSum=0.296;QD=5.82;ReadPosRankSum=0.296;SNPEFF_AMINO_ACID_CHANGE=A431P;SNPEFF_CODON_CHANGE=Gcc/Ccc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_16383682_16383800;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCNKB;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000331579 GT:AD:DP:GQ:PL 0/1:7,3:10:88.16:88,0,189
1 16383742 rs1057857 C G 355.66 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=45.23;MQ0=0;QD=32.33;SNPEFF_AMINO_ACID_CHANGE=P135A;SNPEFF_CODON_CHANGE=Cct/Gct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_16383733_16383803;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCNKB;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000431772 GT:AD:DP:GQ:PL 1/1:0,11:11:30.10:389,30,0
1 16383808 rs28690440 G C 30.16 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=43.12;MQ0=0;MQRankSum=-0.358;QD=6.03;ReadPosRankSum=1.231;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCNKB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331579 GT:AD:DP:GQ:PL 0/1:3,2:5:60.15:60,0,103
1 16385248 rs74054903 C T 43.12 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=38.54;MQ0=2;QD=8.62;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCNKB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331579 GT:AD:DP:GQ:PL 1/1:2,3:5:6.02:74,6,0
1 16385250 rs74054904 A G 38.05 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=38.54;MQ0=2;QD=7.61;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCNKB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331579 GT:AD:DP:GQ:PL 1/1:0,5:5:6.01:69,6,0
1 16385797 rs3978478 C G 43.95 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=47.12;MQ0=0;QD=21.98;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCNKB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331579 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:75,6,0
1 16385815 rs2019456 G A 40.77 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=47.12;MQ0=0;QD=20.38;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCNKB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331579 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:72,6,0
1 16385980 rs3884058 G A 579.13 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=36.85;MQ0=1;QD=34.07;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCNKB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331579 GT:AD:DP:GQ:PL 1/1:0,17:17:48.15:612,48,0
1 16386008 rs2863452 T C 484.23 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=34.97;MQ0=1;QD=21.05;SNPEFF_AMINO_ACID_CHANGE=Q181;SNPEFF_CODON_CHANGE=caA/caG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_16385989_16386099;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM131C;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000375662 GT:AD:DP:GQ:PL 1/1:0,23:23:42.11:517,42,0
1 16386247 rs2095543 T C 35.63 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=21.11;MQ0=1;QD=8.91;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCNKB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331579 GT:AD:DP:GQ:PL 1/1:0,4:4:6.02:67,6,0
1 16386416 rs9442230 G A 240.66 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=40.67;MQ0=1;QD=26.74;SNPEFF_AMINO_ACID_CHANGE=D133;SNPEFF_CODON_CHANGE=gaC/gaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_16386364_16386546;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM131C;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000375662 GT:AD:DP:GQ:PL 1/1:0,9:9:21.07:274,21,0
1 16386447 rs11576236 G C 199.21 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=37.18;MQ0=0;QD=22.13;SNPEFF_AMINO_ACID_CHANGE=P123R;SNPEFF_CODON_CHANGE=cCg/cGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_16386364_16386546;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM131C;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000375662 GT:AD:DP:GQ:PL 1/1:0,9:9:18.06:232,18,0
1 16388485 rs58894453 T C 49.41 MQFilter40 AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=33.54;MQ0=0;MQRankSum=0.358;QD=9.88;ReadPosRankSum=-0.358;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCNKB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331579 GT:AD:DP:GQ:PL 0/1:2,3:5:54.41:79,0,54
1 16388534 rs2863454 C T 55.93 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.421;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=41.08;MQ0=0;MQRankSum=-0.922;QD=6.99;ReadPosRankSum=-1.368;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCNKB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331579 GT:AD:DP:GQ:PL 0/1:4,4:8:85.92:86,0,133
1 16388556 rs2863455 C T 326.96 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=43.01;MQ0=0;QD=23.35;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCNKB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331579 GT:AD:DP:GQ:PL 1/1:0,14:14:30.08:360,30,0
1 16388565 rs7524413 C G 168.65 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.625;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=42.16;MQ0=1;MQRankSum=2.938;QD=11.24;ReadPosRankSum=-0.386;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCNKB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331579 GT:AD:DP:GQ:PL 0/1:7,8:15:99:199,0,132
1 16388580 rs3978467 C T 236.62 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=0.988;DB;DP=22;Dels=0.0;FS=1.957;HRun=0;HaplotypeScore=0.0;MQ=42.52;MQ0=1;MQRankSum=-2.507;QD=10.76;ReadPosRankSum=-0.608;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCNKB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331579 GT:AD:DP:GQ:PL 0/1:10,12:22:99:267,0,194
1 16388646 rs2863456 T C 555.24 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.8544;MQ=41.42;MQ0=1;QD=30.85;SNPEFF_AMINO_ACID_CHANGE=R72;SNPEFF_CODON_CHANGE=agA/agG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_16388594_16388687;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM131C;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000375662 GT:AD:DP:GQ:PL 1/1:0,18:18:48.13:588,48,0
1 16388709 rs28570004 G T 249.13 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9997;MQ=45.88;MQ0=0;MQRankSum=0.898;QD=20.76;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCNKB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331579 GT:AD:DP:GQ:PL 0/1:2,8:12:48.49:279,0,48
1 16388737 rs3978468 G A 58.67 PASS AB=0.727;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=49.71;MQ0=0;MQRankSum=-0.382;QD=5.33;ReadPosRankSum=0.382;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCNKB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331579 GT:AD:DP:GQ:PL 0/1:8,3:11:88.67:89,0,281
1 16388766 rs3978469 C T 81.12 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=51.09;MQ0=0;QD=27.04;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCNKB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331579 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:113,9,0
1 16389026 rs2863458 T C 33.19 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.72;QD=5.53;ReadPosRankSum=-0.72;SNPEFF_AMINO_ACID_CHANGE=K48E;SNPEFF_CODON_CHANGE=Aaa/Gaa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_16388994_16389029;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM131C;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000375662 GT:AD:DP:GQ:PL 0/1:4,2:6:63.18:63,0,147
1 16451767 rs3754334 G A 361.73 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.14;SNPEFF_AMINO_ACID_CHANGE=I958;SNPEFF_CODON_CHANGE=atC/atT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_16450832_16451815;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPHA2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000358432 GT:AD:DP:GQ:PL 1/1:0,12:12:30.10:395,30,0
1 16461336 rs7552165 C T 78.07 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.38;QD=13.01;ReadPosRankSum=-1.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPHA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358432 GT:AD:DP:GQ:PL 0/1:2,4:6:63.16:108,0,63
1 16461739 rs150384340 G A 386.10 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.361;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=-0.323;QD=12.07;ReadPosRankSum=-0.703;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPHA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358432 GT:AD:DP:GQ:PL 0/1:18,14:32:99:416,0,571
1 16464673 rs2230597 G A 416.47 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.76;SNPEFF_AMINO_ACID_CHANGE=P329;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_16464348_16464680;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPHA2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000358432 GT:AD:DP:GQ:PL 1/1:0,15:15:36.11:449,36,0
1 16474701 rs6603867 G A 209.37 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.9;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPHA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461614 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:242,18,0
1 16474839 rs35519704 AC A 1745.99 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-2.364;DB;DP=58;FS=0.0;HRun=5;HaplotypeScore=154.8034;IndelType=D;MQ=55.01;MQ0=0;MQRankSum=-1.843;QD=30.1;ReadPosRankSum=1.323;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPHA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461614 GT:AD:DP:GQ:PL 1/1:3,55:58:89.36:1788,89,0
1 16475123 rs6678616 C T 774.81 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.99;SNPEFF_AMINO_ACID_CHANGE=L191;SNPEFF_CODON_CHANGE=ctG/ctA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_16474873_16475542;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPHA2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000358432 GT:AD:DP:GQ:PL 1/1:0,25:25:63.18:808,63,0
1 16475126 rs6678618 C T 768.38 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.74;SNPEFF_AMINO_ACID_CHANGE=A190;SNPEFF_CODON_CHANGE=gcG/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_16474873_16475542;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPHA2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000358432 GT:AD:DP:GQ:PL 1/1:0,25:25:60.19:801,60,0
1 16525056 rs451260 G T 470.51 PASS AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.775;DB;DP=38;Dels=0.0;FS=7.162;HRun=1;HaplotypeScore=0.0;MQ=59.39;MQ0=0;MQRankSum=-0.634;QD=12.38;ReadPosRankSum=0.444;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ARHGEF19;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375607 GT:AD:DP:GQ:PL 0/1:20,18:38:99:501,0,582
1 16525549 rs221032 C T 187.64 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.779;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.259;QD=15.64;ReadPosRankSum=0.259;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ARHGEF19;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375607 GT:AD:DP:GQ:PL 0/1:6,6:12:99:218,0,176
1 16528233 rs221037 G A 94 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.8;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ARHGEF19;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375607 GT:AD:DP:GQ:PL 1/1:0,5:5:9.03:126,9,0
1 16528721 rs221038 A G 37.67 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.83;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ARHGEF19;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000441785 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:69,6,0
1 16529117 rs221039 T C 190.50 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=0.893;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.053;QD=11.21;ReadPosRankSum=-1.418;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ARHGEF19;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000441785 GT:AD:DP:GQ:PL 0/1:8,9:17:99:220,0,234
1 16532803 rs221050 G A 81.14 PASS AB=0.778;AC=1;AF=0.50;AN=2;BaseQRankSum=0.584;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.69;QD=4.51;ReadPosRankSum=-1.434;SNPEFF_AMINO_ACID_CHANGE=S390;SNPEFF_CODON_CHANGE=tcC/tcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_16532675_16532835;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ARHGEF19;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000270747 GT:AD:DP:GQ:PL 0/1:14,4:18:99:111,0,416
1 16532848 rs221051 A G 46.97 PASS AB=0.769;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.185;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.74;QD=3.61;ReadPosRankSum=0.185;SNPEFF_AMINO_ACID_CHANGE=C58;SNPEFF_CODON_CHANGE=tgT/tgC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_16532675_16533021;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ARHGEF19;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000441785 GT:AD:DP:GQ:PL 0/1:10,3:13:76.97:77,0,298
1 16534002 rs221056 C G 172.08 PASS AB=0.64;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.274;DB;DP=25;Dels=0.0;FS=6.761;HRun=0;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=0.481;QD=6.88;ReadPosRankSum=0.425;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ARHGEF19;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270747 GT:AD:DP:GQ:PL 0/1:16,9:25:99:202,0,490
1 16534255 rs221057 C G 257.71 PASS AB=0.56;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.028;DB;DP=26;Dels=0.0;FS=3.524;HRun=0;HaplotypeScore=0.0;MQ=58.2;MQ0=0;MQRankSum=-0.985;QD=9.91;ReadPosRankSum=-1.622;SNPEFF_AMINO_ACID_CHANGE=E238Q;SNPEFF_CODON_CHANGE=Gag/Cag;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_16534170_16534272;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ARHGEF19;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000270747 GT:AD:DP:GQ:PL 0/1:14,11:26:99:288,0,441
1 16534646 rs221058 C G 457.99 PASS AB=0.406;AC=1;AF=0.50;AN=2;BaseQRankSum=0.741;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=0.18;QD=14.31;ReadPosRankSum=-1.021;SNPEFF_AMINO_ACID_CHANGE=G163R;SNPEFF_CODON_CHANGE=Ggc/Cgc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_16534439_16534720;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ARHGEF19;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000270747 GT:AD:DP:GQ:PL 0/1:13,19:32:99:488,0,395
1 16534730 rs221059 G A 280.68 PASS AB=0.421;AC=1;AF=0.50;AN=2;BaseQRankSum=0.95;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.372;QD=14.77;ReadPosRankSum=1.693;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ARHGEF19;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270747 GT:AD:DP:GQ:PL 0/1:8,11:19:99:311,0,208
1 16542876 rs2273313 A T 85.58 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.04;MQ0=0;MQRankSum=0.72;QD=14.26;ReadPosRankSum=-1.38;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ARHGEF19;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270747 GT:AD:DP:GQ:PL 0/1:2,4:6:39.10:116,0,39
1 16542937 rs2273312 T G 263.41 PASS AB=0.412;AC=1;AF=0.50;AN=2;BaseQRankSum=0.488;DB;DP=17;Dels=0.0;FS=2.187;HRun=1;HaplotypeScore=0.0;MQ=57.23;MQ0=0;MQRankSum=0.163;QD=15.49;ReadPosRankSum=0.705;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ARHGEF19;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270747 GT:AD:DP:GQ:PL 0/1:7,10:17:99:293,0,163
1 16543175 rs221024 A C 259.79 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.47;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ARHGEF19;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270747 GT:AD:DP:GQ:PL 1/1:0,8:8:24.07:293,24,0
1 16558510 . TTGG T 79.70 PASS AB=0.806;AC=1;AF=0.50;AN=2;BaseQRankSum=3.972;DP=29;FS=0.0;HRun=0;HaplotypeScore=243.8339;IndelType=D;MQ=53.1;MQ0=0;MQRankSum=-3.583;QD=2.75;ReadPosRankSum=0.139;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RSG1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000488510 GT:AD:DP:GQ:PL 0/1:22,7:29:99:119,0,1254
1 16558838 rs6700888 C A 54.18 PASS AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=9.03;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RSG1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375599 GT:AD:DP:GQ:PL 0/1:1,5:6:29.21:84,0,29
1 16731510 rs525409 C G 656.13 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.89;MQ0=0;QD=31.24;SNPEFF_AMINO_ACID_CHANGE=V232L;SNPEFF_CODON_CHANGE=Gtg/Ctg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_16731462_16731599;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPATA21;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000540400 GT:AD:DP:GQ:PL 1/1:0,21:21:54.16:689,54,0
1 16731609 rs148140651 G C 254.05 PASS AB=0.618;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.765;DB;DP=34;Dels=0.0;FS=3.477;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.537;QD=7.47;ReadPosRankSum=-1.842;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPATA21;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000335496 GT:AD:DP:GQ:PL 0/1:21,13:34:99:284,0,549
1 16731646 rs3106498 T C 615.20 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.96;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPATA21;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000335496 GT:AD:DP:GQ:PL 1/1:0,22:22:57.10:648,57,0
1 16767359 rs114024565 A G 406.31 PASS AB=0.3;AC=1;AF=0.50;AN=2;BaseQRankSum=1.773;DB;DP=20;Dels=0.0;FS=2.831;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.371;QD=20.32;ReadPosRankSum=1.031;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NECAP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263498 GT:AD:DP:GQ:PL 0/1:6,14:20:99:436,0,170
1 16778265 rs279782 G T 1169.57 PASS AB=0.391;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.842;DB;DP=69;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.6208;MQ=59.39;MQ0=0;MQRankSum=0.744;QD=16.95;ReadPosRankSum=-1.617;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NECAP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000508680 GT:AD:DP:GQ:PL 0/1:27,42:69:99:1200,0,844
1 16802890 rs696095 G A 253.94 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=1.728;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.59;MQ0=0;MQRankSum=0.654;QD=7.05;ReadPosRankSum=-2.064;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=CROCCP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263511 GT:AD:DP:GQ:PL 0/1:24,12:36:99:284,0,706
1 16803267 rs156846 T C 41.51 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=32.69;MQ0=0;QD=20.75;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=CROCCP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263511 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:73,6,0
1 16812082 rs2418644 A G 298.82 PASS AB=0.143;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.004;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.28;MQ0=0;MQRankSum=-0.639;QD=21.34;ReadPosRankSum=-0.091;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=CROCCP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263511 GT:AD:DP:GQ:PL 0/1:2,12:14:51.30:329,0,51
1 16862132 rs2992345 T C 34.20 MQFilter40;QDFilter2 AB=0.45;AC=1;AF=0.50;AN=2;BaseQRankSum=2.404;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=36.05;MQ0=8;MQRankSum=-2.589;QD=1.71;ReadPosRankSum=1.294;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AL355149.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357301 GT:AD:DP:GQ:PL 0/1:9,11:20:64.19:64,0,307
1 16862141 rs2991727 C G 87.18 MQFilter40 AB=0.414;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.887;DB;DP=29;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.7887;MQ=35.57;MQ0=9;MQRankSum=-3.356;QD=3.01;ReadPosRankSum=-1.582;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AL355149.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357301 GT:AD:DP:GQ:PL 0/1:12,17:29:99:117,0,372
1 16862158 rs2990571 C T 132.53 MQFilter40 AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.075;DB;DP=42;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.8245;MQ=37.46;MQ0=9;MQRankSum=-2.37;QD=3.16;ReadPosRankSum=-0.646;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AL355149.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357301 GT:AD:DP:GQ:PL 0/1:24,18:42:99:163,0,696
1 16862186 rs6698704 G A 69.83 QDFilter2 AB=0.857;AC=1;AF=0.50;AN=2;BaseQRankSum=1.155;DB;DP=63;Dels=0.0;FS=8.125;HRun=0;HaplotypeScore=0.5784;MQ=42.13;MQ0=9;MQRankSum=-1.006;QD=1.11;ReadPosRankSum=0.286;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AL355149.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357301 GT:AD:DP:GQ:PL 0/1:54,9:63:99:100,0,1325
1 16862212 rs79311784 C T 243.45 PASS AB=0.819;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.654;DB;DP=94;Dels=0.0;FS=3.04;HRun=0;HaplotypeScore=1.8308;MQ=43.84;MQ0=9;MQRankSum=1.989;QD=2.59;ReadPosRankSum=0.986;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AL355149.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357301 GT:AD:DP:GQ:PL 0/1:77,17:94:99:273,0,1829
1 16862282 rs11260784 G A 218.48 QDFilter2 AB=0.85;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.878;DB;DP=140;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=5.0254;MQ=40.78;MQ0=12;MQRankSum=-2.028;QD=1.56;ReadPosRankSum=-0.315;SNPEFF_AMINO_ACID_CHANGE=M1I;SNPEFF_CODON_CHANGE=atG/atA;SNPEFF_EFFECT=START_LOST;SNPEFF_EXON_ID=exon_1_16862255_16862619;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AL355149.1;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000357301 GT:AD:DP:GQ:PL 0/1:119,21:140:99:248,0,2824
1 16862296 rs1759227 G C 1043.30 MQFilter40 AB=0.578;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.14;DB;DP=135;Dels=0.0;FS=4.775;HRun=1;HaplotypeScore=2.21;MQ=38.48;MQ0=11;MQRankSum=0.146;QD=7.73;ReadPosRankSum=1.463;SNPEFF_AMINO_ACID_CHANGE=R6P;SNPEFF_CODON_CHANGE=cGg/cCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_16862255_16862619;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AL355149.1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000357301 GT:AD:DP:GQ:PL 0/1:78,57:135:99:1073,0,1693
1 16862340 . G A 501.78 MQFilter40 AB=0.699;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.457;DP=103;Dels=0.0;FS=5.622;HRun=1;HaplotypeScore=0.8321;MQ=35.94;MQ0=6;MQRankSum=0.526;QD=4.87;ReadPosRankSum=-0.812;SNPEFF_AMINO_ACID_CHANGE=A21T;SNPEFF_CODON_CHANGE=Gct/Act;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_16862255_16862619;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AL355149.1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000357301 GT:AD:DP:GQ:PL 0/1:72,31:103:99:532,0,1613
1 16862454 rs71248115 T G 347.77 MQFilter40 AB=0.464;AC=1;AF=0.50;AN=2;BaseQRankSum=2.534;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=37.4;MQ0=0;MQRankSum=-0.369;QD=12.42;ReadPosRankSum=0.875;SNPEFF_AMINO_ACID_CHANGE=S59A;SNPEFF_CODON_CHANGE=Tct/Gct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_16862255_16862619;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AL355149.1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000357301 GT:AD:DP:GQ:PL 0/1:13,15:28:99:378,0,280
1 16862461 rs145386412 T A 316.45 MQFilter40 AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.914;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.6208;MQ=38.77;MQ0=0;MQRankSum=-0.582;QD=12.66;ReadPosRankSum=0.305;SNPEFF_AMINO_ACID_CHANGE=V61D;SNPEFF_CODON_CHANGE=gTt/gAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_16862255_16862619;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AL355149.1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000357301 GT:AD:DP:GQ:PL 0/1:10,15:25:99:346,0,216
1 16862502 rs141629643 A G 204.22 MQFilter40 AC=2;AF=1.00;AN=2;BaseQRankSum=0.0;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9578;MQ=32.54;MQ0=0;MQRankSum=1.044;QD=20.42;ReadPosRankSum=1.393;SNPEFF_AMINO_ACID_CHANGE=N75D;SNPEFF_CODON_CHANGE=Aat/Gat;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_16862255_16862619;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AL355149.1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000357301 GT:AD:DP:GQ:PL 1/1:1,9:10:21.04:237,21,0
1 16863141 . C A 98.99 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.663;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=6.4931;MQ=47.89;MQ0=0;MQRankSum=2.037;QD=9.0;ReadPosRankSum=0.678;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AL355149.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357301 GT:AD:DP:GQ:PL 0/1:7,4:11:99:129,0,134
1 16863259 rs114741004 T G 45.24 QDFilter2 AB=0.738;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.948;DB;DP=65;Dels=0.0;FS=4.987;HRun=0;HaplotypeScore=6.7527;MQ=50.71;MQ0=3;MQRankSum=-5.411;QD=0.7;ReadPosRankSum=1.192;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AL355149.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357301 GT:AD:DP:GQ:PL 0/1:48,17:65:75.23:75,0,1451
1 16863328 rs61769543 T G 140.02 QDFilter2 AB=0.79;AC=1;AF=0.50;AN=2;BaseQRankSum=2.624;DB;DP=124;Dels=0.0;FS=7.693;HRun=1;HaplotypeScore=5.9188;MQ=47.7;MQ0=5;MQRankSum=-4.957;QD=1.13;ReadPosRankSum=-1.508;SNPEFF_AMINO_ACID_CHANGE=V125G;SNPEFF_CODON_CHANGE=gTc/gGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_16863295_16864669;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AL355149.1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000357301 GT:AD:DP:GQ:PL 0/1:98,26:124:99:170,0,2659
1 16863352 rs61769544 C T 341.47 PASS AB=0.776;AC=1;AF=0.50;AN=2;BaseQRankSum=2.51;DB;DP=116;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.8606;MQ=47.31;MQ0=4;MQRankSum=-5.024;QD=2.94;ReadPosRankSum=-1.528;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AL355149.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357301 GT:AD:DP:GQ:PL 0/1:90,26:116:99:371,0,2303
1 16863398 rs61769545 A C 42.61 QDFilter2 AB=0.846;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.199;DB;DP=78;Dels=0.0;FS=4.772;HRun=1;HaplotypeScore=2.3683;MQ=48.56;MQ0=3;MQRankSum=-4.671;QD=0.55;ReadPosRankSum=0.873;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AL355149.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357301 GT:AD:DP:GQ:PL 0/1:66,12:78:72.61:73,0,1867
1 16890130 rs1043523 A C 192.49 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=24.31;MQ0=1;QD=19.25;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420031 GT:AD:DP:GQ:PL 1/1:0,10:10:21.05:225,21,0
1 16890176 rs3868814 A C 352.25 MQFilter40 AB=0.091;AC=1;AF=0.50;AN=2;BaseQRankSum=0.996;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=29.92;MQ0=3;MQRankSum=-2.325;QD=16.01;ReadPosRankSum=0.731;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420031 GT:AD:DP:GQ:PL 0/1:2,20:22:34.46:382,0,34
1 16890189 . A G 52.82 MQFilter40;QDFilter2 AB=0.844;AC=1;AF=0.50;AN=2;BaseQRankSum=0.491;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=35.96;MQ0=3;MQRankSum=0.606;QD=1.65;ReadPosRankSum=-0.202;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420031 GT:AD:DP:GQ:PL 0/1:27,5:32:82.81:83,0,627
1 16890283 rs156893 G T 4466.31 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=149;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.965;MQ=38.79;MQ0=5;QD=29.98;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420031 GT:AD:DP:GQ:PL 1/1:0,149:149:99:4466,373,0
1 16890383 rs3981536 C T 259.65 QDFilter2 AB=0.844;AC=1;AF=0.50;AN=2;BaseQRankSum=0.805;DB;DP=250;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.3963;MQ=51.55;MQ0=8;MQRankSum=-1.127;QD=1.04;ReadPosRankSum=1.023;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420031 GT:AD:DP:GQ:PL 0/1:211,39:250:99:290,0,6454
1 16890421 rs2990549 G A 3894.89 PASS AB=0.512;AC=1;AF=0.50;AN=2;BaseQRankSum=7.442;DB;DP=250;DS;Dels=0.0;FS=5.816;HRun=0;HaplotypeScore=0.0;MQ=53.34;MQ0=5;MQRankSum=2.871;QD=15.58;ReadPosRankSum=0.188;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420031 GT:AD:DP:GQ:PL 0/1:128,122:250:99:3895,0,3307
1 16890441 rs3863779 C T 197.47 QDFilter2 AB=0.832;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.435;DB;DP=250;DS;Dels=0.0;FS=2.778;HRun=1;HaplotypeScore=2.9153;MQ=53.1;MQ0=8;MQRankSum=-5.979;QD=0.79;ReadPosRankSum=-1.424;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420031 GT:AD:DP:GQ:PL 0/1:208,42:250:99:227,0,7334
1 16890456 . T G 197.45 QDFilter2 AB=0.896;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.129;DP=249;DS;Dels=0.0;FS=4.077;HRun=0;HaplotypeScore=3.8248;MQ=53.0;MQ0=7;MQRankSum=0.02;QD=0.79;ReadPosRankSum=0.065;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420031 GT:AD:DP:GQ:PL 0/1:223,26:249:99:227,0,7413
1 16890484 rs12117084 G C 113.73 QDFilter2 AB=0.903;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.059;DB;DP=247;DS;Dels=0.0;FS=0.844;HRun=0;HaplotypeScore=8.0568;MQ=54.21;MQ0=4;MQRankSum=-2.892;QD=0.46;ReadPosRankSum=-0.466;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420031 GT:AD:DP:GQ:PL 0/1:223,24:247:99:144,0,7557
1 16890598 rs2990550 T A 5555.28 HaplotypeScoreFilter13 AB=0.132;AC=1;AF=0.50;AN=2;BaseQRankSum=4.09;DB;DP=250;DS;Dels=0.0;FS=9.67;HRun=1;HaplotypeScore=45.9965;MQ=40.15;MQ0=12;MQRankSum=-4.954;QD=22.22;ReadPosRankSum=1.817;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:33,217:250:99:5555,0,486
1 16890602 rs2990551 T G 1341 HaplotypeScoreFilter13 AB=0.704;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.985;DB;DP=250;DS;Dels=0.0;FS=0.565;HRun=0;HaplotypeScore=41.0231;MQ=41.64;MQ0=12;MQRankSum=0.994;QD=5.36;ReadPosRankSum=-1.222;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:176,74:250:99:1371,0,4802
1 16890639 rs1043750 C T 713.06 HaplotypeScoreFilter13 AB=0.792;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.16;DB;DP=250;DS;Dels=0.0;FS=10.311;HRun=0;HaplotypeScore=70.2746;MQ=44.04;MQ0=10;MQRankSum=-5.672;QD=2.85;ReadPosRankSum=1.704;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:198,52:250:99:743,0,6067
1 16890644 rs2992339 C T 4075.21 HaplotypeScoreFilter13 AB=0.382;AC=1;AF=0.50;AN=2;BaseQRankSum=4.129;DB;DP=250;DS;Dels=0.0;FS=1.918;HRun=2;HaplotypeScore=62.222;MQ=43.91;MQ0=9;MQRankSum=2.515;QD=16.3;ReadPosRankSum=-0.284;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:95,154:250:99:4075,0,2303
1 16890671 rs2419526 T C 3927.32 PASS AB=0.124;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.499;DB;DP=250;DS;Dels=0.0;FS=1.745;HRun=0;HaplotypeScore=12.8412;MQ=43.16;MQ0=19;MQRankSum=-4.804;QD=15.71;ReadPosRankSum=0.682;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:31,219:250:99:3927,0,596
1 16890672 rs2419525 G A 4070.33 PASS AB=0.129;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.19;DB;DP=248;DS;Dels=0.0;FS=2.706;HRun=0;HaplotypeScore=12.8412;MQ=43.89;MQ0=17;MQRankSum=-4.515;QD=16.41;ReadPosRankSum=1.319;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:32,216:248:99:4070,0,672
1 16890756 . T A 51.52 HaplotypeScoreFilter13;QDFilter2 AB=0.894;AC=1;AF=0.50;AN=2;BaseQRankSum=2.212;DP=180;DS;Dels=0.0;FS=1.694;HRun=2;HaplotypeScore=19.1208;MQ=41.89;MQ0=14;MQRankSum=-0.297;QD=0.29;ReadPosRankSum=-1.23;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:161,19:180:81.52:82,0,4044
1 16890760 rs1759170 G A 2262.05 HaplotypeScoreFilter13 AB=0.362;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.118;DB;DP=177;DS;Dels=0.0;FS=4.615;HRun=0;HaplotypeScore=18.1544;MQ=42.37;MQ0=14;MQRankSum=-5.726;QD=12.78;ReadPosRankSum=-0.806;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:64,113:177:99:2292,0,1766
1 16890771 rs77194068 G A 57.44 QDFilter2 AB=0.917;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.558;DB;DP=157;DS;Dels=0.0;FS=7.177;HRun=0;HaplotypeScore=8.386;MQ=42.67;MQ0=9;MQRankSum=-0.105;QD=0.37;ReadPosRankSum=-2.071;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:143,13:157:87.43:87,0,3455
1 16890787 rs111418886 ATAGATCCAT A 1956.82 PASS AB=0.762;AC=1;AF=0.50;AN=2;BaseQRankSum=5.814;DB;DP=115;DS;FS=0.0;HRun=0;HaplotypeScore=1363.9243;IndelType=D;MQ=40.75;MQ0=9;MQRankSum=-4.689;QD=13.59;ReadPosRankSum=-2.47;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:99,42:115:99:1996,0,4027
1 16890814 rs56139324 TA T 163.57 QDFilter2 AB=0.716;AC=1;AF=0.50;AN=2;BaseQRankSum=3.256;DB;DP=73;FS=2.484;HRun=12;HaplotypeScore=673.2482;IndelType=D;MQ=35.82;MQ0=11;MQRankSum=-4.85;QD=1.47;ReadPosRankSum=1.101;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:60,35:73:99:203,0,978
1 16890852 rs1932256 A C 363.38 MQFilter40 AB=0.661;AC=1;AF=0.50;AN=2;BaseQRankSum=0.48;DB;DP=112;Dels=0.0;FS=14.519;HRun=0;HaplotypeScore=0.9867;MQ=34.82;MQ0=8;MQRankSum=-2.956;QD=3.24;ReadPosRankSum=-0.901;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:74,38:112:99:393,0,1451
1 16890921 rs1759171 G A 586.66 MQFilter40 AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.837;DB;DP=98;Dels=0.0;FS=7.797;HRun=3;HaplotypeScore=12.5248;MQ=35.4;MQ0=6;MQRankSum=2.983;QD=5.99;ReadPosRankSum=-2.134;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:70,28:98:99:617,0,1380
1 16891003 rs653454 C A 342.63 MQFilter40 AB=0.12;AC=1;AF=0.50;AN=2;BaseQRankSum=1.605;DB;DP=51;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.2434;MQ=22.9;MQ0=8;MQRankSum=-3.744;QD=6.72;ReadPosRankSum=0.645;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:6,44:51:99:373,0,144
1 16891074 rs4111896 T C 1284.04 MQFilter40 AB=0.456;AC=1;AF=0.50;AN=2;BaseQRankSum=1.783;DB;DP=250;DS;Dels=0.0;FS=6.588;HRun=0;HaplotypeScore=8.4651;MQ=25.63;MQ0=7;MQRankSum=1.43;QD=5.14;ReadPosRankSum=0.033;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:114,136:250:99:1314,0,1004
1 16891120 . AATG A 99.84 QDFilter2 AB=0.958;AC=1;AF=0.50;AN=2;BaseQRankSum=3.304;DP=87;DS;FS=0.0;HRun=0;HaplotypeScore=590.5867;IndelType=D;MQ=25.51;MQ0=7;MQRankSum=0.293;QD=0.4;ReadPosRankSum=0.64;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:239,11:87:99:139,0,4959
1 16891152 rs659276 A G 33.58 HaplotypeScoreFilter13;MQFilter40;QDFilter2 AB=0.919;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.498;DB;DP=248;DS;Dels=0.0;FS=5.563;HRun=0;HaplotypeScore=40.0829;MQ=27.21;MQ0=4;MQRankSum=1.794;QD=0.14;ReadPosRankSum=-0.555;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:228,20:248:63.57:64,0,3520
1 16891158 rs4112523 A C 557.82 HaplotypeScoreFilter13;MQFilter40 AB=0.707;AC=1;AF=0.50;AN=2;BaseQRankSum=6.811;DB;DP=250;DS;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=28.9062;MQ=27.81;MQ0=10;MQRankSum=-2.308;QD=2.23;ReadPosRankSum=1.277;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:176,73:250:99:588,0,3208
1 16891233 rs4120702 T C 542.46 HaplotypeScoreFilter13;MQFilter40;SnpCluster AB=0.808;AC=1;AF=0.50;AN=2;BaseQRankSum=1.315;DB;DP=250;DS;Dels=0.0;FS=13.358;HRun=1;HaplotypeScore=37.6692;MQ=30.54;MQ0=33;MQRankSum=0.927;QD=2.17;ReadPosRankSum=3.48;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:202,48:250:99:572,0,4816
1 16891234 . G A 513.08 HaplotypeScoreFilter13;MQFilter40;SnpCluster AB=0.795;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.081;DP=250;DS;Dels=0.0;FS=13.342;HRun=0;HaplotypeScore=38.6217;MQ=30.41;MQ0=32;MQRankSum=1.526;QD=2.05;ReadPosRankSum=2.084;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:198,51:250:99:543,0,4817
1 16891243 rs61771012 C G 4699.97 FSFilter60;HaplotypeScoreFilter13;MQFilter40;SnpCluster AB=0.116;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.912;DB;DP=250;DS;Dels=0.0;FS=72.857;HRun=0;HaplotypeScore=64.9191;MQ=29.68;MQ0=33;MQRankSum=-5.551;QD=18.8;ReadPosRankSum=0.192;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:29,220:250:99:4700,0,436
1 16891485 rs2289551 C T 2714.12 MQFilter40 AB=0.277;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.812;DB;DP=250;DS;Dels=0.0;FS=44.736;HRun=0;HaplotypeScore=6.9184;MQ=29.59;MQ0=34;MQRankSum=-10.092;QD=10.86;ReadPosRankSum=0.781;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:69,180:250:99:2744,0,1993
1 16891585 rs190400518 T G 343.25 MQFilter40;QDFilter2 AB=0.788;AC=1;AF=0.50;AN=2;BaseQRankSum=0.541;DB;DP=250;DS;Dels=0.0;FS=36.958;HRun=2;HaplotypeScore=4.843;MQ=23.34;MQ0=32;MQRankSum=1.246;QD=1.37;ReadPosRankSum=3.067;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:197,53:250:99:373,0,2237
1 16891705 rs3900885 T C 261.91 HaplotypeScoreFilter13;MQFilter40;QDFilter2 AB=0.896;AC=1;AF=0.50;AN=2;BaseQRankSum=0.196;DB;DP=250;DS;Dels=0.0;FS=1.96;HRun=0;HaplotypeScore=14.3304;MQ=27.77;MQ0=77;MQRankSum=1.834;QD=1.05;ReadPosRankSum=0.099;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:224,26:250:99:292,0,3612
1 16891734 rs3868817 T C 142.21 MQFilter40;QDFilter2 AB=0.88;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.511;DB;DP=250;DS;Dels=0.0;FS=4.596;HRun=1;HaplotypeScore=4.8151;MQ=20.37;MQ0=90;MQRankSum=-0.176;QD=0.57;ReadPosRankSum=0.835;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:220,30:250:99:172,0,2541
1 16891826 rs3872311 A C 135.61 HaplotypeScoreFilter13;MQFilter40;QDFilter2 AB=0.829;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.694;DB;DP=181;DS;Dels=0.0;FS=5.037;HRun=1;HaplotypeScore=14.8615;MQ=14.86;MQ0=94;MQRankSum=-0.945;QD=0.75;ReadPosRankSum=0.131;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:150,31:181:99:166,0,1021
1 16891963 rs56078233 T A 194.01 HaplotypeScoreFilter13;MQFilter40;QDFilter2 AB=0.844;AC=1;AF=0.50;AN=2;BaseQRankSum=0.418;DB;DP=250;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=15.6813;MQ=29.4;MQ0=8;MQRankSum=0.745;QD=0.78;ReadPosRankSum=0.166;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:211,39:250:99:224,0,3914
1 16892249 . T G 198.99 MQFilter40;QDFilter2 AB=0.932;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.569;DP=249;DS;Dels=0.0;FS=33.055;HRun=1;HaplotypeScore=2.3609;MQ=16.54;MQ0=120;MQRankSum=1.18;QD=0.8;ReadPosRankSum=-2.935;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:232,17:249:99:229,0,1615
1 16892272 . C CT 1564.36 PASS AB=0.826;AC=1;AF=0.50;AN=2;BaseQRankSum=7.16;DP=81;DS;FS=136.363;HRun=1;HaplotypeScore=917.3268;IndelType=I;MQ=17.22;MQ0=121;MQRankSum=-6.815;QD=6.46;ReadPosRankSum=1.643;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:191,51:81:99:1603,0,1125
1 16892276 . TG T 1507.76 PASS AB=0.824;AC=1;AF=0.50;AN=2;BaseQRankSum=6.513;DP=80;DS;FS=132.827;HRun=1;HaplotypeScore=916.4374;IndelType=D;MQ=17.25;MQ0=121;MQRankSum=-6.069;QD=6.34;ReadPosRankSum=2.887;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:187,51:80:99:1547,0,1335
1 16892310 . T G 199.57 FSFilter60;MQFilter40;QDFilter2 AB=0.41;AC=1;AF=0.50;AN=2;BaseQRankSum=6.309;DP=250;DS;Dels=0.0;FS=61.327;HRun=1;HaplotypeScore=2.8178;MQ=23.3;MQ0=117;MQRankSum=-4.669;QD=0.8;ReadPosRankSum=2.666;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:102,147:250:99:230,0,2625
1 16892407 rs138256522 A G 278.93 QDFilter2 AB=0.856;AC=1;AF=0.50;AN=2;BaseQRankSum=2.958;DB;DP=243;DS;Dels=0.0;FS=3.908;HRun=2;HaplotypeScore=1.9545;MQ=40.19;MQ0=1;MQRankSum=-1.452;QD=1.15;ReadPosRankSum=0.404;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:208,35:243:99:309,0,6502
1 16892419 . A G 3468.41 PASS AB=0.502;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.0;DP=250;DS;Dels=0.0;FS=1.056;HRun=0;HaplotypeScore=3.5937;MQ=40.29;MQ0=1;MQRankSum=1.755;QD=13.87;ReadPosRankSum=-0.845;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:125,124:250:99:3468,0,3203
1 16892561 rs149619125 C T 4760.94 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=180;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7319;MQ=36.66;MQ0=9;QD=26.45;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 1/1:0,180:180:99:4761,382,0
1 16892578 rs138804673 ACT A 73.77 QDFilter2 AB=0.917;AC=1;AF=0.50;AN=2;BaseQRankSum=2.584;DB;DP=133;DS;FS=4.47;HRun=0;HaplotypeScore=953.5468;IndelType=D;MQ=36.46;MQ0=9;MQRankSum=-1.687;QD=0.45;ReadPosRankSum=0.993;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:150,15:133:99:113,0,5855
1 16892811 rs145957327 A G 442.81 MQFilter40;QDFilter2 AB=0.668;AC=1;AF=0.50;AN=2;BaseQRankSum=-6.043;DB;DP=250;DS;Dels=0.0;FS=4.704;HRun=0;HaplotypeScore=10.8586;MQ=22.43;MQ0=1;MQRankSum=-0.953;QD=1.77;ReadPosRankSum=-0.547;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:167,83:250:99:473,0,1703
1 16892828 . T C 149.91 MQFilter40;QDFilter2 AB=0.944;AC=1;AF=0.50;AN=2;BaseQRankSum=0.891;DP=250;DS;Dels=0.0;FS=24.907;HRun=0;HaplotypeScore=5.7739;MQ=24.32;MQ0=1;MQRankSum=2.504;QD=0.6;ReadPosRankSum=1.263;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:236,14:250:99:180,0,2474
1 16893033 rs3983170 G A 751.38 FSFilter60;MQFilter40 AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.864;DB;DP=250;DS;Dels=0.0;FS=78.861;HRun=0;HaplotypeScore=6.6699;MQ=31.07;MQ0=2;MQRankSum=-8.081;QD=3.01;ReadPosRankSum=-3.743;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:134,115:250:99:781,0,3564
1 16893071 rs3868031 T G 167.69 MQFilter40;QDFilter2 AB=0.9;AC=1;AF=0.50;AN=2;BaseQRankSum=1.071;DB;DP=250;DS;Dels=0.0;FS=8.611;HRun=1;HaplotypeScore=4.3039;MQ=39.08;MQ0=2;MQRankSum=-0.081;QD=0.67;ReadPosRankSum=0.52;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:225,25:250:99:198,0,6914
1 16893144 rs181201720 T G 1154.89 MQFilter40 AB=0.717;AC=1;AF=0.50;AN=2;BaseQRankSum=4.154;DB;DP=233;DS;Dels=0.0;FS=10.633;HRun=3;HaplotypeScore=1.9025;MQ=35.67;MQ0=3;MQRankSum=1.881;QD=4.96;ReadPosRankSum=1.139;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:167,66:233:99:1185,0,4400
1 16893182 rs1855757 G T 397.16 MQFilter40;QDFilter2 AB=0.787;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.209;DB;DP=225;DS;Dels=0.0;FS=44.298;HRun=0;HaplotypeScore=6.6455;MQ=33.56;MQ0=7;MQRankSum=-2.754;QD=1.77;ReadPosRankSum=-2.536;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:177,48:225:99:427,0,4272
1 16893222 rs185856724 T A 975.27 MQFilter40 AB=0.758;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.137;DB;DP=249;DS;Dels=0.0;FS=25.612;HRun=0;HaplotypeScore=12.0837;MQ=37.97;MQ0=6;MQRankSum=-1.376;QD=3.9;ReadPosRankSum=-0.136;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:188,60:249:99:1005,0,4502
1 16893441 rs607117 G A 1971.67 MQFilter40 AB=0.198;AC=1;AF=0.50;AN=2;BaseQRankSum=1.813;DB;DP=131;Dels=0.0;FS=5.489;HRun=0;HaplotypeScore=5.2559;MQ=36.4;MQ0=14;MQRankSum=-6.056;QD=15.05;ReadPosRankSum=0.678;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:26,105:131:99:2002,0,631
1 16893739 . T G 643.30 FSFilter60;HaplotypeScoreFilter13;MQFilter40 AB=0.692;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.304;DP=250;DS;Dels=0.0;FS=128.14;HRun=2;HaplotypeScore=20.2141;MQ=37.66;MQ0=3;MQRankSum=-4.912;QD=2.57;ReadPosRankSum=-3.315;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:173,77:250:99:673,0,4728
1 16893854 . A C 712.02 HaplotypeScoreFilter13;MQFilter40 AB=0.776;AC=1;AF=0.50;AN=2;BaseQRankSum=-9.307;DP=250;DS;Dels=0.0;FS=1.979;HRun=1;HaplotypeScore=24.2709;MQ=34.52;MQ0=7;MQRankSum=0.52;QD=2.85;ReadPosRankSum=-0.212;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:194,56:250:99:742,0,4775
1 16893884 rs61771021 G A 852.50 MQFilter40 AB=0.548;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.066;DB;DP=250;DS;Dels=0.0;FS=2.766;HRun=2;HaplotypeScore=2.4095;MQ=21.93;MQ0=37;MQRankSum=-3.211;QD=3.41;ReadPosRankSum=-1.594;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:137,113:250:99:882,0,1934
1 16893984 . C T 178.73 MQFilter40;QDFilter2 AB=0.787;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.741;DP=127;DS;Dels=0.0;FS=4.877;HRun=0;HaplotypeScore=8.2038;MQ=19.27;MQ0=19;MQRankSum=-0.199;QD=1.41;ReadPosRankSum=-1.749;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:100,27:127:99:209,0,1246
1 16893991 rs688049 A G 1479.24 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=102;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=11.9137;MQ=19.63;MQ0=17;QD=14.5;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 1/1:0,101:102:99:1512,147,0
1 16894277 rs4661809 G T 181.38 MQFilter40 AB=0.614;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.246;DB;DP=57;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=25.03;MQ0=1;MQRankSum=-0.143;QD=3.18;ReadPosRankSum=0.763;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:35,22:57:99:211,0,473
1 16894295 rs678186 T G 75.29 MQFilter40;QDFilter2 AB=0.76;AC=1;AF=0.50;AN=2;BaseQRankSum=4.153;DB;DP=75;Dels=0.0;FS=6.264;HRun=3;HaplotypeScore=4.6667;MQ=23.42;MQ0=2;MQRankSum=-1.44;QD=1.0;ReadPosRankSum=1.581;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:57,18:75:99:105,0,805
1 16894323 rs55870077 C A 1004.05 MQFilter40 AB=0.461;AC=1;AF=0.50;AN=2;BaseQRankSum=3.611;DB;DP=141;Dels=0.0;FS=6.56;HRun=1;HaplotypeScore=3.6477;MQ=20.92;MQ0=2;MQRankSum=0.556;QD=7.12;ReadPosRankSum=0.894;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:65,76:141:99:1034,0,869
1 16894376 rs849613 A G 170.60 MQFilter40;QDFilter2 AB=0.864;AC=1;AF=0.50;AN=2;BaseQRankSum=-7.778;DB;DP=250;DS;Dels=0.0;FS=5.119;HRun=0;HaplotypeScore=1.4105;MQ=18.38;MQ0=31;MQRankSum=1.813;QD=0.68;ReadPosRankSum=0.213;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:216,34:250:99:201,0,2652
1 16894664 rs860282 C T 96.78 MQFilter40;QDFilter2 AB=0.255;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.486;DB;DP=98;DS;Dels=0.0;FS=16.085;HRun=0;HaplotypeScore=0.0;MQ=23.02;MQ0=24;MQRankSum=-6.457;QD=0.99;ReadPosRankSum=0.491;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:25,73:98:99:127,0,849
1 16895634 rs75027498 T G 1142.57 MQFilter40 AB=0.302;AC=1;AF=0.50;AN=2;BaseQRankSum=1.329;DB;DP=250;DS;Dels=0.0;FS=23.864;HRun=1;HaplotypeScore=2.89;MQ=21.95;MQ0=67;MQRankSum=-7.46;QD=4.57;ReadPosRankSum=0.809;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:75,173:250:99:1173,0,1158
1 16899903 rs61772300 G C 32.85 MQFilter40;QDFilter2 AB=0.885;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=15.59;MQ0=21;MQRankSum=0.358;QD=1.26;ReadPosRankSum=-0.358;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:23,3:26:62.84:63,0,98
1 16901247 rs10752419 G T 320.19 MQFilter40;QDFilter2 AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.76;DB;DP=179;DS;Dels=0.0;FS=5.378;HRun=0;HaplotypeScore=0.6651;MQ=19.45;MQ0=40;MQRankSum=-1.818;QD=1.79;ReadPosRankSum=0.482;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:110,69:179:99:350,0,1210
1 16901259 rs10907243 T A 100.67 MQFilter40;QDFilter2 AB=0.776;AC=1;AF=0.50;AN=2;BaseQRankSum=0.065;DB;DP=143;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=18.91;MQ0=40;MQRankSum=-1.854;QD=0.7;ReadPosRankSum=-0.58;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:111,32:143:99:131,0,1126
1 16901407 rs10796416 G C 70.19 MQFilter40 AB=0.357;AC=1;AF=0.50;AN=2;BaseQRankSum=0.966;DB;DP=30;Dels=0.0;FS=6.113;HRun=0;HaplotypeScore=1.9576;MQ=31.77;MQ0=4;MQRankSum=-3.894;QD=2.34;ReadPosRankSum=0.908;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:10,18:30:99:100,0,351
1 16901549 rs10907244 A G 49.05 HaplotypeScoreFilter13;MQFilter40;QDFilter2 AB=0.679;AC=1;AF=0.50;AN=2;BaseQRankSum=-8.775;DB;DP=190;Dels=0.0;FS=5.698;HRun=0;HaplotypeScore=28.6169;MQ=39.02;MQ0=14;MQRankSum=-8.317;QD=0.26;ReadPosRankSum=1.362;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:129,61:190:79.04:79,0,4589
1 16901627 rs3872316 C A 90.60 MQFilter40;QDFilter2 AB=0.704;AC=1;AF=0.50;AN=2;BaseQRankSum=4.502;DB;DP=250;DS;Dels=0.0;FS=2.111;HRun=1;HaplotypeScore=0.0;MQ=36.02;MQ0=15;MQRankSum=-8.503;QD=0.36;ReadPosRankSum=5.87;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:176,74:250:99:121,0,5196
1 16901668 rs3901679 T C 338.15 MQFilter40;QDFilter2 AB=0.896;AC=1;AF=0.50;AN=2;BaseQRankSum=3.236;DB;DP=250;DS;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=3.2002;MQ=29.6;MQ0=56;MQRankSum=3.276;QD=1.35;ReadPosRankSum=3.24;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:223,26:250:99:368,0,3537
1 16901710 rs3901680 C G 211.49 HaplotypeScoreFilter13;MQFilter40;QDFilter2 AB=0.754;AC=1;AF=0.50;AN=2;BaseQRankSum=4.154;DB;DP=236;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=24.9034;MQ=21.53;MQ0=84;MQRankSum=-2.09;QD=0.9;ReadPosRankSum=1.376;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:178,58:236:99:241,0,2412
1 16901714 rs138796798 G A 855.96 HaplotypeScoreFilter13;MQFilter40 AB=0.589;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.17;DB;DP=236;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=31.1006;MQ=19.65;MQ0=91;MQRankSum=0.012;QD=3.61;ReadPosRankSum=0.784;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:139,97:236:99:886,0,1562
1 16901757 rs3872317 C A 147.93 MQFilter40;QDFilter2 AB=0.733;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.804;DB;DP=236;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=16.18;MQ0=109;MQRankSum=-2.233;QD=0.63;ReadPosRankSum=-2.136;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:173,63:236:99:178,0,1570
1 16902568 rs12405359 A C 31.56 MQFilter40;QDFilter2 AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=33.08;MQ0=2;MQRankSum=-2.927;QD=1.97;ReadPosRankSum=0.437;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:10,6:16:61.55:62,0,283
1 16902661 rs2985115 C A 33.31 MQFilter40;QDFilter2 AB=0.151;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.153;DB;DP=106;Dels=0.0;FS=0.0;HRun=6;HaplotypeScore=2.2019;MQ=21.22;MQ0=27;MQRankSum=-6.13;QD=0.31;ReadPosRankSum=-0.043;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:16,90:106:63.30:63,0,544
1 16902715 . C T 142.16 MQFilter40;QDFilter2 AB=0.876;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.547;DP=250;DS;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=10.2449;MQ=20.72;MQ0=39;MQRankSum=0.657;QD=0.57;ReadPosRankSum=-0.277;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:219,31:250:99:172,0,2074
1 16902823 rs80271292 G C 143.46 MQFilter40;QDFilter2 AB=0.856;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.702;DB;DP=250;DS;Dels=0.0;FS=7.855;HRun=0;HaplotypeScore=2.4982;MQ=20.37;MQ0=53;MQRankSum=1.328;QD=0.57;ReadPosRankSum=2.083;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:214,36:250:99:173,0,2336
1 16902894 rs61772339 A G 286.38 MQFilter40;QDFilter2 AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.137;DB;DP=221;DS;Dels=0.0;FS=20.353;HRun=2;HaplotypeScore=9.9655;MQ=20.46;MQ0=83;MQRankSum=-7.575;QD=1.3;ReadPosRankSum=2.797;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287968 GT:AD:DP:GQ:PL 0/1:37,184:221:99:316,0,1062
1 16903072 . A T 42.53 MQFilter40;QDFilter2 AB=0.92;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.375;DP=139;DS;Dels=0.0;FS=4.105;HRun=0;HaplotypeScore=0.9332;MQ=28.75;MQ0=13;MQRankSum=2.341;QD=0.31;ReadPosRankSum=2.303;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392963 GT:AD:DP:GQ:PL 0/1:127,11:139:72.52:73,0,2167
1 16903150 rs61772340 T C 789.01 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=25.1;MQ0=2;QD=20.23;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392963 GT:AD:DP:GQ:PL 1/1:0,39:39:89.76:822,90,0
1 16903663 rs684193 C T 206.29 MQFilter40 AB=0.675;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.851;DB;DP=77;Dels=0.0;FS=9.029;HRun=2;HaplotypeScore=0.0;MQ=32.92;MQ0=11;MQRankSum=-3.808;QD=2.68;ReadPosRankSum=0.598;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392963 GT:AD:DP:GQ:PL 0/1:52,25:77:99:236,0,1392
1 16903674 rs613213 C T 64.19 MQFilter40;QDFilter2 AB=0.753;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.056;DB;DP=97;Dels=0.0;FS=27.011;HRun=2;HaplotypeScore=0.0;MQ=32.93;MQ0=10;MQRankSum=-4.649;QD=0.66;ReadPosRankSum=-1.752;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392963 GT:AD:DP:GQ:PL 0/1:73,24:97:94.18:94,0,1996
1 16903683 rs684166 T A 490.62 MQFilter40 AB=0.661;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.715;DB;DP=119;Dels=0.0;FS=10.978;HRun=0;HaplotypeScore=0.9832;MQ=34.73;MQ0=10;MQRankSum=-3.184;QD=4.12;ReadPosRankSum=-3.801;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392963 GT:AD:DP:GQ:PL 0/1:78,40:119:99:521,0,2209
1 16903741 . C T 123.92 HaplotypeScoreFilter13;MQFilter40;QDFilter2 AB=0.9;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.087;DP=249;DS;Dels=0.0;FS=3.101;HRun=1;HaplotypeScore=30.1816;MQ=36.43;MQ0=4;MQRankSum=1.023;QD=0.5;ReadPosRankSum=0.852;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392963 GT:AD:DP:GQ:PL 0/1:224,25:249:99:154,0,6722
1 16903794 . C A 33.25 MQFilter40;QDFilter2 AB=0.932;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.938;DP=250;DS;Dels=0.0;FS=1.136;HRun=0;HaplotypeScore=10.2432;MQ=26.58;MQ0=78;MQRankSum=1.432;QD=0.13;ReadPosRankSum=0.131;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392963 GT:AD:DP:GQ:PL 0/1:233,17:250:63.24:63,0,3869
1 16903912 rs61772344 T A 1837.65 MQFilter40 AB=0.321;AC=1;AF=0.50;AN=2;BaseQRankSum=-6.539;DB;DP=195;DS;Dels=0.0;FS=7.663;HRun=0;HaplotypeScore=2.6023;MQ=25.61;MQ0=43;MQRankSum=-1.484;QD=9.42;ReadPosRankSum=-1.446;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392963 GT:AD:DP:GQ:PL 0/1:62,131:195:99:1868,0,1326
1 16903978 . A G 143.21 MQFilter40;QDFilter2 AB=0.919;AC=1;AF=0.50;AN=2;BaseQRankSum=3.44;DP=222;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=19.09;MQ0=104;MQRankSum=1.689;QD=0.65;ReadPosRankSum=0.184;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392963 GT:AD:DP:GQ:PL 0/1:203,18:222:99:173,0,2118
1 16904073 . C A 457.57 MQFilter40 AB=0.769;AC=1;AF=0.50;AN=2;BaseQRankSum=0.381;DP=91;Dels=0.0;FS=1.864;HRun=1;HaplotypeScore=9.7024;MQ=29.99;MQ0=25;MQRankSum=1.411;QD=5.03;ReadPosRankSum=-1.112;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392963 GT:AD:DP:GQ:PL 0/1:70,21:91:99:488,0,1252
1 16904076 . T C 110.20 MQFilter40;QDFilter2 AB=0.888;AC=1;AF=0.50;AN=2;BaseQRankSum=2.771;DP=90;Dels=0.0;FS=2.409;HRun=1;HaplotypeScore=9.7024;MQ=30.15;MQ0=24;MQRankSum=1.979;QD=1.22;ReadPosRankSum=1.939;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392963 GT:AD:DP:GQ:PL 0/1:79,10:90:99:140,0,1587
1 16904121 rs145966688 T G 1720.08 MQFilter40 AB=0.121;AC=1;AF=0.50;AN=2;BaseQRankSum=2.298;DB;DP=58;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=37.68;MQ0=0;MQRankSum=-2.565;QD=29.66;ReadPosRankSum=0.012;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392963 GT:AD:DP:GQ:PL 0/1:7,51:58:99:1750,0,103
1 16904160 rs139419642 C G 246.32 MQFilter40 AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=3.031;DB;DP=28;Dels=0.0;FS=2.732;HRun=1;HaplotypeScore=0.0;MQ=35.39;MQ0=2;MQRankSum=1.555;QD=8.8;ReadPosRankSum=-0.606;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392963 GT:AD:DP:GQ:PL 0/1:18,10:28:99:276,0,438
1 16905978 rs2021196 C T 678.84 HaplotypeScoreFilter13;MQFilter40 AB=0.595;AC=1;AF=0.50;AN=2;BaseQRankSum=7.244;DB;DP=84;Dels=0.0;FS=2.846;HRun=0;HaplotypeScore=13.9129;MQ=31.88;MQ0=3;MQRankSum=-4.086;QD=8.08;ReadPosRankSum=3.59;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392963 GT:AD:DP:GQ:PL 0/1:50,34:84:99:709,0,1319
1 16905983 . G A 326.56 HaplotypeScoreFilter13;MQFilter40 AB=0.756;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.795;DP=78;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=13.9129;MQ=32.02;MQ0=3;MQRankSum=-1.011;QD=4.19;ReadPosRankSum=1.42;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392963 GT:AD:DP:GQ:PL 0/1:59,19:78:99:357,0,1729
1 16906990 rs148747505 G A 71.32 MQFilter40 AB=0.304;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.762;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=14.93;MQ0=14;MQRankSum=-0.067;QD=3.1;ReadPosRankSum=0.762;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392963 GT:AD:DP:GQ:PL 0/1:7,16:23:37.31:101,0,37
1 16907110 rs77700260 T C 2906.26 PASS AB=0.39;AC=1;AF=0.50;AN=2;BaseQRankSum=2.776;DB;DP=187;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9933;MQ=42.08;MQ0=24;MQRankSum=0.167;QD=15.54;ReadPosRankSum=-0.029;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392963 GT:AD:DP:GQ:PL 0/1:73,114:187:99:2936,0,1928
1 16907124 rs615115 A C 5319 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=3.221;DB;DP=245;Dels=0.0;FS=5.199;HRun=0;HaplotypeScore=1.9931;MQ=45.35;MQ0=20;MQRankSum=-0.898;QD=21.71;ReadPosRankSum=-0.539;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392963 GT:AD:DP:GQ:PL 0/1:70,175:245:99:5319,0,1700
1 16907328 rs78540200 G T 2803.63 MQFilter40 AB=0.292;AC=1;AF=0.50;AN=2;BaseQRankSum=1.846;DB;DP=250;DS;Dels=0.0;FS=14.366;HRun=0;HaplotypeScore=4.7229;MQ=27.58;MQ0=46;MQRankSum=-2.455;QD=11.21;ReadPosRankSum=4.804;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392963 GT:AD:DP:GQ:PL 0/1:73,177:250:99:2834,0,1699
1 16907547 rs142893461 C G 259.91 MQFilter40;QDFilter2 AB=0.407;AC=1;AF=0.50;AN=2;BaseQRankSum=2.855;DB;DP=168;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.5362;MQ=12.95;MQ0=86;MQRankSum=-2.016;QD=1.55;ReadPosRankSum=0.605;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392963 GT:AD:DP:GQ:PL 0/1:68,99:168:99:290,0,420
1 16907766 rs115167116 A G 785.89 MQFilter40 AB=0.269;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.945;DB;DP=94;Dels=0.0;FS=2.941;HRun=0;HaplotypeScore=0.9469;MQ=22.65;MQ0=30;MQRankSum=-0.523;QD=8.36;ReadPosRankSum=2.257;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392963 GT:AD:DP:GQ:PL 0/1:25,68:94:99:816,0,579
1 16907854 rs9729861 T A 3463.03 HaplotypeScoreFilter13;MQFilter40 AB=0.432;AC=1;AF=0.50;AN=2;BaseQRankSum=2.892;DB;DP=250;DS;Dels=0.0;FS=5.847;HRun=0;HaplotypeScore=28.7451;MQ=37.27;MQ0=29;MQRankSum=3.522;QD=13.85;ReadPosRankSum=1.1;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392963 GT:AD:DP:GQ:PL 0/1:108,142:250:99:3463,0,2048
1 16907871 rs9728933 C T 3286.55 HaplotypeScoreFilter13;MQFilter40 AB=0.44;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.112;DB;DP=250;DS;Dels=0.0;FS=4.458;HRun=4;HaplotypeScore=15.365;MQ=37.89;MQ0=21;MQRankSum=2.541;QD=13.15;ReadPosRankSum=0.904;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392963 GT:AD:DP:GQ:PL 0/1:110,140:250:99:3287,0,2076
1 16907885 . C G 337.50 MQFilter40;QDFilter2 AB=0.828;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.556;DP=250;DS;Dels=0.0;FS=3.146;HRun=0;HaplotypeScore=5.2809;MQ=31.28;MQ0=59;MQRankSum=0.714;QD=1.35;ReadPosRankSum=-0.334;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392963 GT:AD:DP:GQ:PL 0/1:207,43:250:99:367,0,4289
1 16908115 rs647061 A G 2130.15 PASS AB=0.562;AC=1;AF=0.50;AN=2;BaseQRankSum=1.256;DB;DP=169;DS;Dels=0.0;FS=3.607;HRun=0;HaplotypeScore=1.9148;MQ=45.38;MQ0=13;MQRankSum=3.257;QD=12.6;ReadPosRankSum=0.002;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392963 GT:AD:DP:GQ:PL 0/1:95,74:169:99:2160,0,2492
1 16908867 rs643850 C A 261.25 MQFilter40 AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=0.664;DB;DP=48;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.9993;MQ=24.91;MQ0=17;MQRankSum=-2.53;QD=5.44;ReadPosRankSum=0.664;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392963 GT:AD:DP:GQ:PL 0/1:28,20:48:99:291,0,470
1 16908914 rs643471 G A 705.98 MQFilter40 AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.83;DB;DP=126;Dels=0.0;FS=7.424;HRun=0;HaplotypeScore=1.81;MQ=31.85;MQ0=18;MQRankSum=1.234;QD=5.6;ReadPosRankSum=-0.79;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392963 GT:AD:DP:GQ:PL 0/1:84,42:126:99:736,0,2522
1 16908989 rs144184209 C T 71.60 MQFilter40;QDFilter2 AB=0.936;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.845;DB;DP=250;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9734;MQ=23.53;MQ0=120;MQRankSum=0.948;QD=0.29;ReadPosRankSum=0.067;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392963 GT:AD:DP:GQ:PL 0/1:234,16:250:99:102,0,3303
1 16909000 rs151092163 C A 34.19 HaplotypeScoreFilter13;MQFilter40;QDFilter2 AB=0.928;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.263;DB;DP=250;DS;Dels=0.0;FS=6.129;HRun=0;HaplotypeScore=21.9265;MQ=21.74;MQ0=135;MQRankSum=-0.012;QD=0.14;ReadPosRankSum=1.117;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392963 GT:AD:DP:GQ:PL 0/1:232,18:250:64.18:64,0,2846
1 16909002 . TG T 264.42 QDFilter2 AB=0.926;AC=1;AF=0.50;AN=2;BaseQRankSum=0.86;DP=95;DS;FS=2.929;HRun=4;HaplotypeScore=460.9781;IndelType=D;MQ=20.89;MQ0=143;MQRankSum=-2.105;QD=1.06;ReadPosRankSum=1.261;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392963 GT:AD:DP:GQ:PL 0/1:230,20:95:99:303,0,2771
1 16909052 rs140548913 C T 1359.10 MQFilter40;SnpCluster AC=2;AF=1.00;AN=2;DB;DP=250;DS;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.7219;MQ=12.49;MQ0=203;QD=5.44;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392963 GT:AD:DP:GQ:PL 1/1:38,212:250:99:1392,123,0
1 16909057 . A C 239.35 MQFilter40;QDFilter2;SnpCluster AB=0.952;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.271;DP=250;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7219;MQ=12.13;MQ0=205;MQRankSum=-0.372;QD=0.96;ReadPosRankSum=1.604;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392963 GT:AD:DP:GQ:PL 0/1:238,12:250:99:269,0,850
1 16909061 . T G 234.50 MQFilter40;QDFilter2;SnpCluster AB=0.952;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.388;DP=250;DS;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9332;MQ=12.27;MQ0=204;MQRankSum=-0.338;QD=0.94;ReadPosRankSum=2.064;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392963 GT:AD:DP:GQ:PL 0/1:237,12:250:99:264,0,857
1 16909100 rs143269469 G C 224.02 MQFilter40;QDFilter2 AB=0.703;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.394;DB;DP=250;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=10.86;MQ0=212;MQRankSum=-1.362;QD=0.9;ReadPosRankSum=1.08;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392963 GT:AD:DP:GQ:PL 0/1:175,74:250:99:254,0,637
1 16909129 . T C 372.30 MQFilter40;QDFilter2 AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=1.833;DP=250;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.8285;MQ=8.28;MQ0=228;MQRankSum=0.564;QD=1.49;ReadPosRankSum=-0.493;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392963 GT:AD:DP:GQ:PL 0/1:131,118:250:99:402,0,126
1 16909220 . T C 88.44 MQFilter40;QDFilter2 AB=0.733;AC=1;AF=0.50;AN=2;BaseQRankSum=0.793;DP=247;DS;Dels=0.0;FS=7.782;HRun=1;HaplotypeScore=0.0;MQ=6.28;MQ0=231;MQRankSum=1.359;QD=0.36;ReadPosRankSum=0.566;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392963 GT:AD:DP:GQ:PL 0/1:181,66:247:99:118,0,132
1 16909376 . GT G 179.49 PASS AB=0.848;AC=1;AF=0.50;AN=2;BaseQRankSum=2.731;DP=31;FS=0.0;HRun=2;HaplotypeScore=79.8461;IndelType=D;MQ=14.37;MQ0=47;MQRankSum=1.557;QD=2.3;ReadPosRankSum=0.429;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392963 GT:AD:DP:GQ:PL 0/1:64,14:31:99:219,0,942
1 16909867 . T G 40.77 MQFilter40;QDFilter2 AC=2;AF=1.00;AN=2;BaseQRankSum=-0.736;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=10.18;MQ0=19;MQRankSum=0.736;QD=1.85;ReadPosRankSum=0.736;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392963 GT:AD:DP:GQ:PL 1/1:16,6:22:6.02:72,6,0
1 16910249 rs112206996 T C 158.79 MQFilter40;QDFilter2 AB=0.848;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.938;DB;DP=250;DS;Dels=0.0;FS=3.14;HRun=0;HaplotypeScore=0.9933;MQ=8.67;MQ0=208;MQRankSum=0.281;QD=0.64;ReadPosRankSum=-0.976;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392963 GT:AD:DP:GQ:PL 0/1:212,38:250:99:189,0,289
1 16911839 . T G 53.12 MQFilter40;QDFilter2 AB=0.818;AC=1;AF=0.50;AN=2;BaseQRankSum=0.404;DP=66;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.3683;MQ=20.47;MQ0=23;MQRankSum=-1.127;QD=0.8;ReadPosRankSum=0.181;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392963 GT:AD:DP:GQ:PL 0/1:54,12:66:83.11:83,0,513
1 16911943 . T A 122.55 MQFilter40;QDFilter2 AB=0.764;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.813;DP=250;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9578;MQ=5.29;MQ0=238;MQRankSum=1.813;QD=0.49;ReadPosRankSum=-1.517;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392963 GT:AD:DP:GQ:PL 0/1:191,59:250:8.64:152,0,9
1 16911946 . G A 93.86 MQFilter40;QDFilter2 AB=0.776;AC=1;AF=0.50;AN=2;BaseQRankSum=1.378;DP=250;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9578;MQ=4.87;MQ0=238;MQRankSum=1.191;QD=0.38;ReadPosRankSum=-1.718;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392963 GT:AD:DP:GQ:PL 0/1:194,56:250:11.65:124,0,12
1 16912014 rs143097321 A C 128.92 MQFilter40;QDFilter2 AB=0.612;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.043;DB;DP=250;DS;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=7.78;MQ0=223;MQRankSum=-1.723;QD=0.52;ReadPosRankSum=-0.024;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392963 GT:AD:DP:GQ:PL 0/1:153,97:250:99:159,0,251
1 16912164 . C T 50.91 MQFilter40;QDFilter2 AB=0.863;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.379;DP=249;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=12.28;MQ0=192;MQRankSum=2.067;QD=0.2;ReadPosRankSum=-0.013;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392963 GT:AD:DP:GQ:PL 0/1:215,34:249:80.91:81,0,897
1 16912330 rs4336845 C T 1646.66 MQFilter40 AB=0.352;AC=1;AF=0.50;AN=2;BaseQRankSum=3.347;DB;DP=105;Dels=0.0;FS=4.613;HRun=1;HaplotypeScore=0.9734;MQ=31.25;MQ0=17;MQRankSum=-1.056;QD=15.68;ReadPosRankSum=0.107;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392963 GT:AD:DP:GQ:PL 0/1:37,68:105:99:1677,0,842
1 16913579 rs183653891 A G 1361.50 HaplotypeScoreFilter13;MQFilter40 AB=0.648;AC=1;AF=0.50;AN=2;BaseQRankSum=-6.184;DB;DP=244;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=30.7388;MQ=32.22;MQ0=13;MQRankSum=-0.972;QD=5.58;ReadPosRankSum=-0.509;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392963 GT:AD:DP:GQ:PL 0/1:158,86:244:99:1391,0,3433
1 16913584 rs629538 A C 288.58 HaplotypeScoreFilter13;MQFilter40;QDFilter2 AB=0.855;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.593;DB;DP=248;DS;Dels=0.0;FS=0.786;HRun=0;HaplotypeScore=32.738;MQ=34.46;MQ0=14;MQRankSum=-0.555;QD=1.16;ReadPosRankSum=1.667;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392963 GT:AD:DP:GQ:PL 0/1:212,36:248:99:319,0,4902
1 16913612 rs629889 G A 278.92 MQFilter40;QDFilter2 AB=0.844;AC=1;AF=0.50;AN=2;BaseQRankSum=2.697;DB;DP=250;DS;Dels=0.0;FS=6.981;HRun=1;HaplotypeScore=2.101;MQ=35.45;MQ0=13;MQRankSum=-2.083;QD=1.12;ReadPosRankSum=-0.339;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392963 GT:AD:DP:GQ:PL 0/1:211,39:250:99:309,0,5134
1 16913633 rs75826632 G T 1955.69 MQFilter40 AB=0.55;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.002;DB;DP=250;DS;Dels=0.0;FS=6.621;HRun=0;HaplotypeScore=1.6006;MQ=34.62;MQ0=19;MQRankSum=-3.244;QD=7.82;ReadPosRankSum=-0.83;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392963 GT:AD:DP:GQ:PL 0/1:137,112:250:99:1986,0,3260
1 16913852 . C G 99.31 MQFilter40;QDFilter2 AB=0.33;AC=1;AF=0.50;AN=2;BaseQRankSum=2.509;DP=112;Dels=0.0;FS=3.358;HRun=0;HaplotypeScore=0.0;MQ=12.27;MQ0=65;MQRankSum=-1.796;QD=0.89;ReadPosRankSum=1.391;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392963 GT:AD:DP:GQ:PL 0/1:37,75:112:99:129,0,170
1 16914139 rs3098812 C A 565.51 MQFilter40 AB=0.858;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.013;DB;DP=211;Dels=0.0;FS=7.804;HRun=1;HaplotypeScore=5.2799;MQ=34.52;MQ0=37;MQRankSum=5.651;QD=2.68;ReadPosRankSum=1.38;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392963 GT:AD:DP:GQ:PL 0/1:181,30:211:99:596,0,3421
1 16914160 rs2023215 G A 432.36 HaplotypeScoreFilter13;MQFilter40;QDFilter2 AB=0.748;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.027;DB;DP=250;DS;Dels=0.0;FS=6.764;HRun=0;HaplotypeScore=32.4878;MQ=35.32;MQ0=53;MQRankSum=-5.564;QD=1.73;ReadPosRankSum=-0.081;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392963 GT:AD:DP:GQ:PL 0/1:187,63:250:99:462,0,3676
1 16914168 rs2147033 C G 613.23 HaplotypeScoreFilter13;MQFilter40 AB=0.544;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.085;DB;DP=250;DS;Dels=0.0;FS=6.973;HRun=0;HaplotypeScore=26.7057;MQ=36.0;MQ0=61;MQRankSum=-10.28;QD=2.45;ReadPosRankSum=2.25;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392963 GT:AD:DP:GQ:PL 0/1:136,114:250:99:643,0,3743
1 16914252 rs1020241 C T 628.75 MQFilter40 AB=0.804;AC=1;AF=0.50;AN=2;BaseQRankSum=2.308;DB;DP=246;DS;Dels=0.0;FS=8.666;HRun=1;HaplotypeScore=1.5661;MQ=34.97;MQ0=51;MQRankSum=-1.939;QD=2.55;ReadPosRankSum=-1.115;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392963 GT:AD:DP:GQ:PL 0/1:197,48:246:99:659,0,4199
1 16914306 rs1967910 A G 965.27 MQFilter40 AB=0.758;AC=1;AF=0.50;AN=2;BaseQRankSum=1.48;DB;DP=248;DS;Dels=0.0;FS=0.724;HRun=0;HaplotypeScore=3.4594;MQ=36.7;MQ0=48;MQRankSum=-2.274;QD=3.89;ReadPosRankSum=2.67;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392963 GT:AD:DP:GQ:PL 0/1:188,60:248:99:995,0,4093
1 16914332 . A C 45.26 QDFilter2 AB=0.859;AC=1;AF=0.50;AN=2;BaseQRankSum=3.269;DP=186;DS;Dels=0.0;FS=1.678;HRun=1;HaplotypeScore=5.2878;MQ=43.32;MQ0=15;MQRankSum=-2.663;QD=0.24;ReadPosRankSum=0.716;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392963 GT:AD:DP:GQ:PL 0/1:159,26:186:75.25:75,0,4614
1 16914396 rs2023276 C T 235.55 PASS AB=0.702;AC=1;AF=0.50;AN=2;BaseQRankSum=2.77;DB;DP=104;DS;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=12.1666;MQ=41.14;MQ0=18;MQRankSum=-4.674;QD=2.26;ReadPosRankSum=0.479;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392963 GT:AD:DP:GQ:PL 0/1:73,31:104:99:266,0,2253
1 16914415 rs4233549 A G 113.17 QDFilter2 AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=0.76;DB;DP=65;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.6229;MQ=41.67;MQ0=10;MQRankSum=-5.398;QD=1.74;ReadPosRankSum=0.563;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392963 GT:AD:DP:GQ:PL 0/1:40,25:65:99:143,0,1437
1 16915357 . C T 62.10 MQFilter40;QDFilter2 AB=0.225;AC=1;AF=0.50;AN=2;BaseQRankSum=1.985;DP=249;DS;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=9.14;MQ0=228;MQRankSum=-1.207;QD=0.25;ReadPosRankSum=-0.506;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420513 GT:AD:DP:GQ:PL 0/1:56,193:249:92.09:92,0,425
1 16916309 . T G 662.62 MQFilter40 AB=0.797;AC=1;AF=0.50;AN=2;BaseQRankSum=0.995;DP=213;Dels=0.0;FS=7.642;HRun=0;HaplotypeScore=0.8321;MQ=24.57;MQ0=104;MQRankSum=3.194;QD=3.11;ReadPosRankSum=0.024;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420513 GT:AD:DP:GQ:PL 0/1:169,43:213:99:693,0,1646
1 16916358 rs3981774 G C 118.70 MQFilter40;QDFilter2 AB=0.564;AC=1;AF=0.50;AN=2;BaseQRankSum=1.832;DB;DP=250;DS;Dels=0.0;FS=14.054;HRun=1;HaplotypeScore=3.5434;MQ=27.7;MQ0=107;MQRankSum=-8.082;QD=0.47;ReadPosRankSum=-0.293;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420513 GT:AD:DP:GQ:PL 0/1:141,109:250:99:149,0,3180
1 16916395 . T A 452.41 MQFilter40;QDFilter2 AB=0.904;AC=1;AF=0.50;AN=2;BaseQRankSum=0.833;DP=250;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=23.52;MQ0=113;MQRankSum=2.771;QD=1.81;ReadPosRankSum=2.852;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420513 GT:AD:DP:GQ:PL 0/1:225,24:250:99:482,0,2379
1 16916466 rs112602821 A G 154.79 FSFilter60;MQFilter40;QDFilter2 AB=0.94;AC=1;AF=0.50;AN=2;BaseQRankSum=0.058;DB;DP=250;DS;Dels=0.0;FS=78.099;HRun=0;HaplotypeScore=6.8706;MQ=16.89;MQ0=119;MQRankSum=2.055;QD=0.62;ReadPosRankSum=-0.765;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420513 GT:AD:DP:GQ:PL 0/1:235,15:250:99:185,0,1798
1 16916536 . G T 257.79 MQFilter40;QDFilter2 AB=0.855;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.613;DP=249;DS;Dels=0.0;FS=13.771;HRun=0;HaplotypeScore=10.733;MQ=32.65;MQ0=32;MQRankSum=-1.464;QD=1.03;ReadPosRankSum=-0.345;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420513 GT:AD:DP:GQ:PL 0/1:212,36:249:99:288,0,4680
1 16916569 rs1855754 A G 213.75 MQFilter40;QDFilter2 AB=0.688;AC=1;AF=0.50;AN=2;BaseQRankSum=5.189;DB;DP=250;DS;Dels=0.0;FS=31.646;HRun=1;HaplotypeScore=4.8575;MQ=35.3;MQ0=9;MQRankSum=-9.109;QD=0.85;ReadPosRankSum=-1.007;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420513 GT:AD:DP:GQ:PL 0/1:172,78:250:99:244,0,4928
1 16916603 rs11583443 C A 3338.01 MQFilter40 AB=0.157;AC=1;AF=0.50;AN=2;BaseQRankSum=7.127;DB;DP=197;DS;Dels=0.0;FS=4.289;HRun=0;HaplotypeScore=3.3232;MQ=37.46;MQ0=5;MQRankSum=-5.394;QD=16.94;ReadPosRankSum=1.184;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420513 GT:AD:DP:GQ:PL 0/1:31,166:197:99:3338,0,576
1 16916702 rs4112521 T C 1048.58 PASS AB=0.46;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.461;DB;DP=63;Dels=0.0;FS=3.452;HRun=0;HaplotypeScore=4.7197;MQ=43.53;MQ0=0;MQRankSum=-3.951;QD=16.64;ReadPosRankSum=-0.972;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420513 GT:AD:DP:GQ:PL 0/1:29,34:63:99:1079,0,960
1 16916754 rs61773623 G C 227.93 PASS AB=0.294;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.8;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=40.64;MQ0=3;MQRankSum=-3.067;QD=13.41;ReadPosRankSum=-0.133;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420513 GT:AD:DP:GQ:PL 0/1:5,12:17:99:258,0,157
1 16918246 . G A 203.60 HaplotypeScoreFilter13;MQFilter40;QDFilter2 AB=0.884;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.626;DP=250;DS;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=29.0641;MQ=25.22;MQ0=46;MQRankSum=0.827;QD=0.81;ReadPosRankSum=-0.575;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420513 GT:AD:DP:GQ:PL 0/1:221,29:250:99:234,0,4592
1 16918255 . A C 216.78 HaplotypeScoreFilter13;MQFilter40;QDFilter2 AB=0.844;AC=1;AF=0.50;AN=2;BaseQRankSum=4.88;DP=250;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=29.1306;MQ=25.44;MQ0=46;MQRankSum=-1.099;QD=0.87;ReadPosRankSum=-1.577;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420513 GT:AD:DP:GQ:PL 0/1:211,39:250:99:247,0,4548
1 16918424 rs9730077 G C 40.94 QDFilter2 AB=0.872;AC=1;AF=0.50;AN=2;BaseQRankSum=1.521;DB;DP=250;DS;Dels=0.0;FS=0.904;HRun=0;HaplotypeScore=4.3185;MQ=49.07;MQ0=8;MQRankSum=-3.768;QD=0.16;ReadPosRankSum=-0.05;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420513 GT:AD:DP:GQ:PL 0/1:218,32:250:70.93:71,0,7667
1 16918486 . C T 91.59 QDFilter2 AB=0.908;AC=1;AF=0.50;AN=2;BaseQRankSum=3.305;DP=250;DS;Dels=0.0;FS=1.965;HRun=1;HaplotypeScore=0.8667;MQ=43.93;MQ0=12;MQRankSum=-0.919;QD=0.37;ReadPosRankSum=0.218;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420513 GT:AD:DP:GQ:PL 0/1:227,23:250:99:122,0,5987
1 16918502 rs3925698 A G 4748.96 PASS AB=0.22;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.954;DB;DP=250;DS;Dels=0.0;FS=2.197;HRun=1;HaplotypeScore=5.0896;MQ=42.55;MQ0=13;MQRankSum=-5.785;QD=19.0;ReadPosRankSum=-0.622;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420513 GT:AD:DP:GQ:PL 0/1:55,195:250:99:4749,0,1608
1 16918611 rs4141869 A C 840.67 MQFilter40 AB=0.606;AC=1;AF=0.50;AN=2;BaseQRankSum=1.773;DB;DP=165;DS;Dels=0.0;FS=2.704;HRun=0;HaplotypeScore=5.2304;MQ=31.52;MQ0=13;MQRankSum=-1.138;QD=5.09;ReadPosRankSum=-1.085;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420513 GT:AD:DP:GQ:PL 0/1:100,65:165:99:871,0,2333
1 16918717 rs3872321 C T 253.98 PASS AB=0.63;AC=1;AF=0.50;AN=2;BaseQRankSum=5.537;DB;DP=46;Dels=0.0;FS=2.66;HRun=2;HaplotypeScore=1.9472;MQ=40.71;MQ0=1;MQRankSum=-0.503;QD=5.52;ReadPosRankSum=-1.861;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420513 GT:AD:DP:GQ:PL 0/1:29,17:46:99:284,0,734
1 16918734 rs3928093 G C 278.72 PASS AB=0.675;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.859;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9472;MQ=42.64;MQ0=0;MQRankSum=0.433;QD=6.97;ReadPosRankSum=-0.866;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420513 GT:AD:DP:GQ:PL 0/1:27,13:40:99:309,0,769
1 16945409 rs13566 T A 296.39 PASS AB=0.774;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.445;DB;DP=53;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=54.1;MQ0=0;MQRankSum=1.423;QD=5.59;ReadPosRankSum=-0.033;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CROCCP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421700 GT:AD:DP:GQ:PL 0/1:41,12:53:99:326,0,1375
1 16945452 rs11260834 C T 49.87 QDFilter2 AB=0.904;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.355;DB;DP=115;Dels=0.0;FS=8.255;HRun=0;HaplotypeScore=12.9277;MQ=52.86;MQ0=0;MQRankSum=-2.142;QD=0.43;ReadPosRankSum=-2.232;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CROCCP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421700 GT:AD:DP:GQ:PL 0/1:104,11:115:79.86:80,0,3438
1 16945462 rs11576126 A G 251.83 QDFilter2 AB=0.853;AC=1;AF=0.50;AN=2;BaseQRankSum=1.495;DB;DP=130;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=11.9282;MQ=52.1;MQ0=0;MQRankSum=2.118;QD=1.94;ReadPosRankSum=2.158;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CROCCP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421700 GT:AD:DP:GQ:PL 0/1:110,19:130:99:282,0,3538
1 16945504 rs11378 C T 1226.96 PASS AB=0.765;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.026;DB;DP=221;Dels=0.0;FS=2.976;HRun=0;HaplotypeScore=4.6029;MQ=49.31;MQ0=2;MQRankSum=0.628;QD=5.55;ReadPosRankSum=1.433;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CROCCP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421700 GT:AD:DP:GQ:PL 0/1:169,52:221:99:1257,0,5295
1 16945673 rs55654854 A G 375.32 MQFilter40;QDFilter2 AB=0.78;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.985;DB;DP=205;DS;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=3.2745;MQ=21.19;MQ0=50;MQRankSum=-0.985;QD=1.83;ReadPosRankSum=1.235;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CROCCP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421700 GT:AD:DP:GQ:PL 0/1:160,45:205:99:405,0,2202
1 16945738 rs150540867 A G 823.17 MQFilter40 AB=0.414;AC=1;AF=0.50;AN=2;BaseQRankSum=1.56;DB;DP=111;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=19.74;MQ0=27;MQRankSum=1.414;QD=7.42;ReadPosRankSum=-0.491;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CROCCP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421700 GT:AD:DP:GQ:PL 0/1:46,65:111:99:853,0,368
1 16945780 rs139443204 C T 103.79 MQFilter40 AB=0.405;AC=1;AF=0.50;AN=2;BaseQRankSum=3.586;DB;DP=46;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=16.66;MQ0=13;MQRankSum=-0.506;QD=2.26;ReadPosRankSum=-0.726;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CROCCP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421700 GT:AD:DP:GQ:PL 0/1:17,25:46:99:134,0,107
1 16948474 rs2781579 C G 550.33 PASS AB=0.148;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.383;DB;DP=27;Dels=0.0;FS=3.598;HRun=0;HaplotypeScore=3.9657;MQ=57.87;MQ0=0;MQRankSum=-1.129;QD=20.38;ReadPosRankSum=-0.125;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AL137798.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000501442 GT:AD:DP:GQ:PL 0/1:4,23:27:62.15:580,0,62
1 16948722 rs390951 C T 213.56 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.578;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.788;QD=13.35;ReadPosRankSum=-0.368;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AL137798.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000501442 GT:AD:DP:GQ:PL 0/1:8,8:16:99:244,0,271
1 16950404 . C T 34.85 QDFilter2 AB=0.895;AC=1;AF=0.50;AN=2;BaseQRankSum=0.233;DP=38;Dels=0.0;FS=2.615;HRun=1;HaplotypeScore=0.0;MQ=53.24;MQ0=0;MQRankSum=0.078;QD=0.92;ReadPosRankSum=-0.648;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AL137798.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000501442 GT:AD:DP:GQ:PL 0/1:34,4:38:64.84:65,0,931
1 16950708 rs1628058 T G 98.13 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.16;MQ0=0;MQRankSum=0.731;QD=19.63;ReadPosRankSum=0.731;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AL137798.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000501442 GT:AD:DP:GQ:PL 0/1:1,4:5:26.19:128,0,26
1 16952481 rs915311 A G 149.41 PASS AB=0.313;AC=1;AF=0.50;AN=2;BaseQRankSum=0.429;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=47.12;MQ0=0;MQRankSum=-0.674;QD=9.34;ReadPosRankSum=-1.653;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AL137798.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000501442 GT:AD:DP:GQ:PL 0/1:5,11:16:89.90:179,0,90
1 16952764 rs1765550 A C 153.82 PASS AB=0.816;AC=1;AF=0.50;AN=2;BaseQRankSum=0.609;DB;DP=49;Dels=0.0;FS=2.685;HRun=1;HaplotypeScore=2.76;MQ=59.88;MQ0=0;MQRankSum=-0.495;QD=3.14;ReadPosRankSum=0.156;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AL137798.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000501442 GT:AD:DP:GQ:PL 0/1:40,9:49:99:184,0,1352
1 16952814 . G A 170.98 PASS AB=0.877;AC=1;AF=0.50;AN=2;BaseQRankSum=0.575;DP=81;Dels=0.0;FS=3.135;HRun=0;HaplotypeScore=0.0;MQ=59.64;MQ0=0;MQRankSum=-1.506;QD=2.11;ReadPosRankSum=0.546;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AL137798.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000501442 GT:AD:DP:GQ:PL 0/1:71,10:81:99:201,0,2190
1 16952896 rs1762945 G A 437.21 PASS AB=0.787;AC=1;AF=0.50;AN=2;BaseQRankSum=0.881;DB;DP=90;Dels=0.0;FS=2.38;HRun=0;HaplotypeScore=1.998;MQ=59.47;MQ0=0;MQRankSum=-1.355;QD=4.86;ReadPosRankSum=0.501;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AL137798.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000501442 GT:AD:DP:GQ:PL 0/1:70,19:90:99:467,0,2078
1 16952952 rs1762946 G A 381.07 PASS AB=0.698;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.83;DB;DP=53;Dels=0.0;FS=6.585;HRun=1;HaplotypeScore=1.8519;MQ=58.66;MQ0=0;MQRankSum=0.072;QD=7.19;ReadPosRankSum=-0.755;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AL137798.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000501442 GT:AD:DP:GQ:PL 0/1:37,16:53:99:411,0,1201
1 16952993 rs942268 C G 925.07 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.96;MQ0=0;QD=35.58;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AL137798.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000501442 GT:AD:DP:GQ:PL 1/1:0,26:26:72.23:958,72,0
1 16953121 rs1762947 C T 39.85 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.26;MQ0=0;MQRankSum=-1.026;QD=9.96;ReadPosRankSum=-1.026;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AL137798.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000501442 GT:AD:DP:GQ:PL 0/1:2,2:4:58.44:70,0,58
1 16953881 rs9329439 C G 49.16 PASS AB=0.813;AC=1;AF=0.50;AN=2;BaseQRankSum=2.526;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=3.8934;MQ=49.87;MQ0=0;MQRankSum=-0.65;QD=3.07;ReadPosRankSum=0.361;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AL137798.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000501442 GT:AD:DP:GQ:PL 0/1:13,3:16:79.15:79,0,326
1 16953889 rs1628369 G C 45.95 PASS AB=0.8;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.227;DB;DP=15;Dels=0.0;FS=6.99;HRun=0;HaplotypeScore=2.9993;MQ=49.36;MQ0=0;MQRankSum=-0.072;QD=3.06;ReadPosRankSum=0.361;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AL137798.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000501442 GT:AD:DP:GQ:PL 0/1:12,3:15:75.95:76,0,417
1 16958569 rs9329441 T C 42.05 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=5;Dels=0.0;FS=3.979;HRun=1;HaplotypeScore=0.0;MQ=62.13;MQ0=0;MQRankSum=-0.358;QD=8.41;ReadPosRankSum=-0.358;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CROCCP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000362058 GT:AD:DP:GQ:PL 0/1:2,3:5:72.05:72,0,74
1 16958723 rs9730001 G A 313.04 PASS AB=0.755;AC=1;AF=0.50;AN=2;BaseQRankSum=5.01;DB;DP=49;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.6959;MQ=55.66;MQ0=0;MQRankSum=0.942;QD=6.39;ReadPosRankSum=0.57;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CROCCP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000362058 GT:AD:DP:GQ:PL 0/1:37,12:49:99:343,0,1059
1 16958833 rs28687450 T A 976.22 PASS AB=0.661;AC=1;AF=0.50;AN=2;BaseQRankSum=1.564;DB;DP=113;Dels=0.0;FS=7.917;HRun=1;HaplotypeScore=3.1309;MQ=53.11;MQ0=0;MQRankSum=-3.303;QD=8.64;ReadPosRankSum=0.292;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CROCCP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000362058 GT:AD:DP:GQ:PL 0/1:74,38:113:99:1006,0,2218
1 16959101 rs698884 C T 43.44 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=14.48;ReadPosRankSum=0.736;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CROCCP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000362058 GT:AD:DP:GQ:PL 0/1:1,2:3:30.98:73,0,31
1 16959462 rs2093774 T C 84.65 QDFilter2 AB=0.875;AC=1;AF=0.50;AN=2;BaseQRankSum=2.8;DB;DP=57;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.612;MQ=58.36;MQ0=0;MQRankSum=0.223;QD=1.49;ReadPosRankSum=2.205;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CROCCP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000362058 GT:AD:DP:GQ:PL 0/1:49,7:57:99:115,0,1785
1 16959515 rs12048972 G A 323.74 PASS AB=0.825;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.961;DB;DP=114;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.6229;MQ=59.16;MQ0=0;MQRankSum=1.418;QD=2.84;ReadPosRankSum=0.041;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CROCCP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000362058 GT:AD:DP:GQ:PL 0/1:94,20:114:99:354,0,3256
1 16959551 rs849696 T C 1064.10 PASS AB=0.717;AC=1;AF=0.50;AN=2;BaseQRankSum=0.093;DB;DP=146;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7219;MQ=58.51;MQ0=0;MQRankSum=2.36;QD=7.29;ReadPosRankSum=0.549;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CROCCP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000362058 GT:AD:DP:GQ:PL 0/1:104,41:146:99:1094,0,3200
1 16959602 rs1807293 C T 742.38 HaplotypeScoreFilter13 AB=0.797;AC=1;AF=0.50;AN=2;BaseQRankSum=3.791;DB;DP=182;Dels=0.0;FS=2.447;HRun=0;HaplotypeScore=36.4553;MQ=57.54;MQ0=0;MQRankSum=-0.401;QD=4.08;ReadPosRankSum=0.128;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CROCCP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000362058 GT:AD:DP:GQ:PL 0/1:145,37:182:99:772,0,4214
1 16959612 rs9329443 A G 2948.77 HaplotypeScoreFilter13 AB=0.439;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.228;DB;DP=180;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=34.8771;MQ=57.43;MQ0=0;MQRankSum=-0.216;QD=16.38;ReadPosRankSum=-0.47;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CROCCP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000362058 GT:AD:DP:GQ:PL 0/1:79,101:180:99:2979,0,2359
1 16959698 rs9730434 G A 385.08 PASS AB=0.785;AC=1;AF=0.50;AN=2;BaseQRankSum=0.102;DB;DP=93;Dels=0.0;FS=2.421;HRun=0;HaplotypeScore=2.3644;MQ=57.23;MQ0=0;MQRankSum=-0.005;QD=4.14;ReadPosRankSum=-1.063;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CROCCP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000362058 GT:AD:DP:GQ:PL 0/1:73,20:93:99:415,0,2318
1 16959732 rs112000683 T TGGGCCTGCAGCA 1997.37 PASS AB=0.783;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.747;DB;DP=64;FS=0.0;HRun=0;HaplotypeScore=661.5465;IndelType=I;MQ=55.24;MQ0=0;MQRankSum=-1.708;QD=30.73;ReadPosRankSum=-1.948;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CROCCP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000362058 GT:AD:DP:GQ:PL 0/1:47,10:64:99:2036,0,3236
1 16959814 rs1759187 C T 180.33 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.029;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.38;MQ0=0;MQRankSum=0.146;QD=7.51;ReadPosRankSum=-1.083;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CROCCP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000362058 GT:AD:DP:GQ:PL 0/1:14,10:24:99:210,0,433
1 16969246 rs11260857 G A 122.82 PASS AB=0.81;AC=1;AF=0.50;AN=2;BaseQRankSum=4.093;DB;DP=49;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.801;MQ=51.94;MQ0=1;MQRankSum=-0.249;QD=2.51;ReadPosRankSum=0.392;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AL137798.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000535991 GT:AD:DP:GQ:PL 0/1:34,8:49:99:153,0,1005
1 16969381 rs9727604 C T 1238.98 PASS AB=0.421;AC=1;AF=0.50;AN=2;BaseQRankSum=2.701;DB;DP=95;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=46.49;MQ0=6;MQRankSum=-6.727;QD=13.04;ReadPosRankSum=1.272;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AL137798.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000535991 GT:AD:DP:GQ:PL 0/1:40,55:95:99:1269,0,1025
1 16969715 rs9329444 A G 268.20 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=1.107;DB;DP=48;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.38;MQ0=0;MQRankSum=0.179;QD=5.59;ReadPosRankSum=-0.131;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AL137798.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000535991 GT:AD:DP:GQ:PL 0/1:36,12:48:99:298,0,1320
1 16972068 rs1360575 A G 37.03 QDFilter2 AB=0.8;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.25;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=41.47;MQ0=1;MQRankSum=-0.35;QD=1.85;ReadPosRankSum=-1.35;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AL137798.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000535991 GT:AD:DP:GQ:PL 0/1:16,4:20:67.02:67,0,431
1 16972134 rs4661404 C T 44.01 QDFilter2 AB=0.884;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.737;DB;DP=43;Dels=0.0;FS=1.886;HRun=0;HaplotypeScore=0.9916;MQ=43.91;MQ0=2;MQRankSum=-1.574;QD=1.02;ReadPosRankSum=-0.259;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AL137798.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000535991 GT:AD:DP:GQ:PL 0/1:38,5:43:74:74,0,960
1 16972189 rs9728527 C A 38.04 QDFilter2 AB=0.912;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.303;DB;DP=57;Dels=0.0;FS=8.256;HRun=0;HaplotypeScore=7.5764;MQ=51.2;MQ0=2;MQRankSum=-0.629;QD=0.67;ReadPosRankSum=-2.328;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AL137798.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000535991 GT:AD:DP:GQ:PL 0/1:52,5:57:68.04:68,0,1431
1 16972190 rs4661880 T C 134.43 PASS AB=0.768;AC=1;AF=0.50;AN=2;BaseQRankSum=1.954;DB;DP=56;Dels=0.0;FS=25.31;HRun=2;HaplotypeScore=7.5764;MQ=51.29;MQ0=2;MQRankSum=-5.09;QD=2.4;ReadPosRankSum=1.482;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AL137798.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000535991 GT:AD:DP:GQ:PL 0/1:43,13:56:99:164,0,1327
1 16972294 rs11260861 T C 237.42 PASS AB=0.565;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.566;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9995;MQ=50.2;MQ0=0;MQRankSum=-4.062;QD=10.32;ReadPosRankSum=0.837;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AL137798.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000535991 GT:AD:DP:GQ:PL 0/1:13,10:23:99:267,0,456
1 16972920 rs4661882 C T 532.12 PASS AB=0.705;AC=1;AF=0.50;AN=2;BaseQRankSum=1.724;DB;DP=78;Dels=0.0;FS=1.102;HRun=0;HaplotypeScore=0.7887;MQ=59.32;MQ0=0;MQRankSum=0.842;QD=6.82;ReadPosRankSum=1.197;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AL137798.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000535991 GT:AD:DP:GQ:PL 0/1:55,23:78:99:562,0,1636
1 16972940 rs1970921 G A 385.89 PASS AB=0.804;AC=1;AF=0.50;AN=2;BaseQRankSum=4.011;DB;DP=92;Dels=0.0;FS=1.059;HRun=0;HaplotypeScore=3.2707;MQ=57.47;MQ0=0;MQRankSum=-1.265;QD=4.19;ReadPosRankSum=0.143;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AL137798.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000535991 GT:AD:DP:GQ:PL 0/1:74,18:92:99:416,0,2004
1 16973152 rs1970920 A G 293.28 PASS AB=0.739;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.104;DB;DP=92;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.7982;MQ=49.9;MQ0=7;MQRankSum=-2.657;QD=3.19;ReadPosRankSum=0.006;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AL137798.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000535991 GT:AD:DP:GQ:PL 0/1:68,24:92:99:323,0,2045
1 16973184 rs55828106 G A 136.41 MQFilter40;QDFilter2 AB=0.901;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.011;DB;DP=131;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=38.7;MQ0=33;MQRankSum=0.301;QD=1.04;ReadPosRankSum=2.208;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AL137798.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000535991 GT:AD:DP:GQ:PL 0/1:118,13:131:99:166,0,2512
1 16973388 rs76880030 C T 34.91 MQFilter40;QDFilter2 AB=0.669;AC=1;AF=0.50;AN=2;BaseQRankSum=3.742;DB;DP=130;Dels=0.0;FS=22.673;HRun=0;HaplotypeScore=1.6648;MQ=33.46;MQ0=32;MQRankSum=-4.789;QD=0.27;ReadPosRankSum=-1.483;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AL137798.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000535991 GT:AD:DP:GQ:PL 0/1:87,43:130:64.91:65,0,2216
1 16973606 rs76859932 G T 37.70 MQFilter40;QDFilter2 AB=0.908;AC=1;AF=0.50;AN=2;BaseQRankSum=3.031;DB;DP=173;Dels=0.0;FS=1.077;HRun=0;HaplotypeScore=8.285;MQ=39.78;MQ0=7;MQRankSum=1.616;QD=0.22;ReadPosRankSum=0.73;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AL137798.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000535991 GT:AD:DP:GQ:PL 0/1:157,16:173:67.69:68,0,4056
1 16973919 rs141898836 A G 108.58 MQFilter40;QDFilter2 AB=0.823;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.478;DB;DP=62;Dels=0.0;FS=1.264;HRun=1;HaplotypeScore=0.0;MQ=35.04;MQ0=0;MQRankSum=-0.272;QD=1.75;ReadPosRankSum=1.341;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AL137798.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000535991 GT:AD:DP:GQ:PL 0/1:51,11:62:99:139,0,1271
1 16973996 . A G 92.07 MQFilter40 AB=0.744;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.563;DP=39;Dels=0.0;FS=1.864;HRun=0;HaplotypeScore=0.9159;MQ=33.13;MQ0=0;MQRankSum=-0.852;QD=2.36;ReadPosRankSum=-1.656;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AL137798.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000535991 GT:AD:DP:GQ:PL 0/1:29,10:39:99:122,0,709
1 16974013 . C A 74.95 MQFilter40 AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=2.016;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=5.734;MQ=32.84;MQ0=0;MQRankSum=-0.371;QD=2.68;ReadPosRankSum=0.0;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AL137798.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000535991 GT:AD:DP:GQ:PL 0/1:21,7:28:99:105,0,438
1 16974256 . G C 321.74 MQFilter40 AB=0.378;AC=1;AF=0.50;AN=2;BaseQRankSum=3.834;DP=37;Dels=0.0;FS=7.368;HRun=2;HaplotypeScore=0.7887;MQ=33.65;MQ0=1;MQRankSum=-3.367;QD=8.7;ReadPosRankSum=-0.993;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AL137798.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000535991 GT:AD:DP:GQ:PL 0/1:14,23:37:99:352,0,262
1 16974511 rs58679574 G A 133.17 PASS AB=0.795;AC=1;AF=0.50;AN=2;BaseQRankSum=1.431;DB;DP=39;Dels=0.0;FS=3.893;HRun=0;HaplotypeScore=0.0;MQ=53.85;MQ0=0;MQRankSum=-0.715;QD=3.41;ReadPosRankSum=-0.452;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AL137798.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000535991 GT:AD:DP:GQ:PL 0/1:31,8:39:99:163,0,941
1 16974637 rs16854791 T C 240.58 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.469;DB;DP=60;Dels=0.0;FS=1.181;HRun=0;HaplotypeScore=1.8907;MQ=49.26;MQ0=1;MQRankSum=-4.715;QD=4.01;ReadPosRankSum=0.154;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AL137798.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000535991 GT:AD:DP:GQ:PL 0/1:42,18:60:99:271,0,1265
1 16974662 rs28460410 C A 67.29 QDFilter2 AB=0.852;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.339;DB;DP=54;Dels=0.0;FS=1.471;HRun=0;HaplotypeScore=8.9724;MQ=43.97;MQ0=4;MQRankSum=-1.961;QD=1.25;ReadPosRankSum=-1.312;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AL137798.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000535991 GT:AD:DP:GQ:PL 0/1:46,8:54:97.28:97,0,1230
1 16974666 rs28503658 C T 135.80 PASS AB=0.833;AC=1;AF=0.50;AN=2;BaseQRankSum=0.913;DB;DP=54;Dels=0.0;FS=1.548;HRun=0;HaplotypeScore=8.8667;MQ=43.66;MQ0=4;MQRankSum=-0.146;QD=2.51;ReadPosRankSum=1.707;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AL137798.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000535991 GT:AD:DP:GQ:PL 0/1:45,9:54:99:166,0,1075
1 16974869 rs4570422 G C 421.06 PASS AB=0.614;AC=1;AF=0.50;AN=2;BaseQRankSum=0.133;DB;DP=44;Dels=0.0;FS=1.471;HRun=0;HaplotypeScore=2.994;MQ=54.28;MQ0=1;MQRankSum=2.232;QD=9.57;ReadPosRankSum=0.902;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AL137798.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000535991 GT:AD:DP:GQ:PL 0/1:27,17:44:99:451,0,726
1 16975002 rs2093773 C T 144.24 PASS AB=0.707;AC=1;AF=0.50;AN=2;BaseQRankSum=0.202;DB;DP=58;Dels=0.0;FS=3.34;HRun=2;HaplotypeScore=2.9684;MQ=47.82;MQ0=7;MQRankSum=-3.404;QD=2.49;ReadPosRankSum=0.558;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP5-1182A14.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418421 GT:AD:DP:GQ:PL 0/1:41,17:58:99:174,0,1225
1 16975045 rs55763726 G A 108.97 QDFilter2 AB=0.827;AC=1;AF=0.50;AN=2;BaseQRankSum=2.506;DB;DP=81;Dels=0.0;FS=3.022;HRun=0;HaplotypeScore=0.0;MQ=43.54;MQ0=7;MQRankSum=-2.459;QD=1.35;ReadPosRankSum=0.593;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP5-1182A14.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418421 GT:AD:DP:GQ:PL 0/1:67,14:81:99:139,0,1658
1 16975084 rs28506999 G A 67.67 MQFilter40;QDFilter2 AB=0.849;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.571;DB;DP=86;Dels=0.0;FS=1.453;HRun=0;HaplotypeScore=3.7202;MQ=34.33;MQ0=12;MQRankSum=0.136;QD=0.79;ReadPosRankSum=-0.289;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP5-1182A14.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418421 GT:AD:DP:GQ:PL 0/1:73,13:86:97.67:98,0,1567
1 16975230 rs2761535 G C 2392.09 MQFilter40 AB=0.146;AC=1;AF=0.50;AN=2;BaseQRankSum=4.248;DB;DP=151;Dels=0.0;FS=6.617;HRun=2;HaplotypeScore=1.6006;MQ=33.1;MQ0=22;MQRankSum=-4.091;QD=15.84;ReadPosRankSum=2.199;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP5-1182A14.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418421 GT:AD:DP:GQ:PL 0/1:22,129:151:99:2422,0,372
1 16975278 rs111244008 A ACC 245.73 QDFilter2 AB=0.897;AC=1;AF=0.50;AN=2;BaseQRankSum=1.688;DB;DP=129;FS=13.24;HRun=7;HaplotypeScore=691.003;IndelType=I;MQ=34.41;MQ0=22;MQRankSum=0.188;QD=1.48;ReadPosRankSum=-1.852;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP5-1182A14.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418421 GT:AD:DP:GQ:PL 0/1:147,14:129:99:285,0,2953
1 16975699 . A C 76.94 MQFilter40;QDFilter2 AB=0.807;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.922;DP=57;Dels=0.0;FS=1.737;HRun=0;HaplotypeScore=0.8321;MQ=21.2;MQ0=20;MQRankSum=1.313;QD=1.35;ReadPosRankSum=0.361;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP5-1182A14.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418421 GT:AD:DP:GQ:PL 0/1:46,11:57:99:107,0,541
1 16975994 rs2261801 T C 121.99 MQFilter40;QDFilter2 AB=0.659;AC=1;AF=0.50;AN=2;BaseQRankSum=0.979;DB;DP=82;Dels=0.0;FS=27.994;HRun=1;HaplotypeScore=0.7887;MQ=39.07;MQ0=14;MQRankSum=-4.896;QD=1.49;ReadPosRankSum=-1.565;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP5-1182A14.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418421 GT:AD:DP:GQ:PL 0/1:54,28:82:99:152,0,1740
1 16976032 rs2483047 A C 184.98 MQFilter40;QDFilter2 AB=0.863;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.529;DB;DP=102;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.8255;MQ=39.12;MQ0=12;MQRankSum=2.622;QD=1.81;ReadPosRankSum=-0.852;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP5-1182A14.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418421 GT:AD:DP:GQ:PL 0/1:88,14:102:99:215,0,2210
1 16976101 . G A 415.52 PASS AB=0.811;AC=1;AF=0.50;AN=2;BaseQRankSum=2.153;DP=148;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=3.2035;MQ=43.65;MQ0=1;MQRankSum=-5.414;QD=2.81;ReadPosRankSum=-0.79;SNPEFF_EFFECT=SPLICE_SITE_ACCEPTOR;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP5-1182A14.3;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000334429 GT:AD:DP:GQ:PL 0/1:120,28:148:99:446,0,3608
1 16976108 . G A 379.94 PASS AB=0.816;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.894;DP=148;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.2301;MQ=44.11;MQ0=3;MQRankSum=-5.705;QD=2.57;ReadPosRankSum=-0.235;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP5-1182A14.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418421 GT:AD:DP:GQ:PL 0/1:120,27:148:99:410,0,3538
1 16976193 rs61772256 C T 453.83 FSFilter60;HaplotypeScoreFilter13 AB=0.719;AC=1;AF=0.50;AN=2;BaseQRankSum=0.728;DB;DP=185;Dels=0.0;FS=65.452;HRun=0;HaplotypeScore=16.7048;MQ=43.96;MQ0=15;MQRankSum=-7.731;QD=2.45;ReadPosRankSum=-0.211;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP5-1182A14.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418421 GT:AD:DP:GQ:PL 0/1:133,52:185:99:484,0,3985
1 16976335 . C A 792.42 MQFilter40 AB=0.758;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.541;DP=165;Dels=0.0;FS=7.648;HRun=0;HaplotypeScore=8.21;MQ=36.54;MQ0=19;MQRankSum=0.338;QD=4.8;ReadPosRankSum=-0.077;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP5-1182A14.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418421 GT:AD:DP:GQ:PL 0/1:125,40:165:99:822,0,2925
1 16976451 . G A 229.35 MQFilter40;QDFilter2 AB=0.605;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.051;DP=200;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=19.92;MQ0=89;MQRankSum=-1.974;QD=1.15;ReadPosRankSum=-2.051;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP5-1182A14.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418421 GT:AD:DP:GQ:PL 0/1:121,79:200:99:259,0,1619
1 16976569 rs78288272 G A 210.04 MQFilter40;QDFilter2 AB=0.736;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.144;DB;DP=144;Dels=0.0;FS=5.73;HRun=0;HaplotypeScore=0.7887;MQ=32.45;MQ0=43;MQRankSum=-3.895;QD=1.46;ReadPosRankSum=0.83;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP5-1182A14.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418421 GT:AD:DP:GQ:PL 0/1:106,38:144:99:240,0,2118
1 16976585 rs1135350 C T 283.29 MQFilter40;QDFilter2 AB=0.865;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.442;DB;DP=178;Dels=0.0;FS=7.337;HRun=0;HaplotypeScore=0.9933;MQ=32.47;MQ0=41;MQRankSum=4.189;QD=1.59;ReadPosRankSum=1.372;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP5-1182A14.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418421 GT:AD:DP:GQ:PL 0/1:154,24:178:99:313,0,2896
1 16976649 rs1057333 C T 653.23 HaplotypeScoreFilter13;MQFilter40 AB=0.819;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.232;DB;DP=250;DS;Dels=0.0;FS=2.405;HRun=0;HaplotypeScore=20.669;MQ=36.51;MQ0=16;MQRankSum=-3.263;QD=2.61;ReadPosRankSum=-1.587;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP5-1182A14.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418421 GT:AD:DP:GQ:PL 0/1:204,45:250:99:683,0,4868
1 16976679 rs1065528 G A 1831.94 HaplotypeScoreFilter13;MQFilter40 AB=0.645;AC=1;AF=0.50;AN=2;BaseQRankSum=3.205;DB;DP=235;DS;Dels=0.0;FS=2.642;HRun=0;HaplotypeScore=48.1646;MQ=33.61;MQ0=25;MQRankSum=4.408;QD=7.8;ReadPosRankSum=0.055;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP5-1182A14.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418421 GT:AD:DP:GQ:PL 0/1:151,83:235:99:1862,0,2600
1 16976681 rs3175284 G T 468.91 HaplotypeScoreFilter13;MQFilter40 AB=0.826;AC=1;AF=0.50;AN=2;BaseQRankSum=4.318;DB;DP=230;DS;Dels=0.0;FS=0.709;HRun=1;HaplotypeScore=45.2754;MQ=33.07;MQ0=29;MQRankSum=-2.808;QD=2.04;ReadPosRankSum=-0.306;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP5-1182A14.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418421 GT:AD:DP:GQ:PL 0/1:190,40:230:99:499,0,3745
1 16976786 . G C 707.44 MQFilter40 AB=0.541;AC=1;AF=0.50;AN=2;BaseQRankSum=-7.428;DP=136;Dels=0.0;FS=8.137;HRun=0;HaplotypeScore=0.6651;MQ=35.68;MQ0=21;MQRankSum=-0.78;QD=5.2;ReadPosRankSum=-0.615;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP5-1182A14.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418421 GT:AD:DP:GQ:PL 0/1:73,62:136:99:737,0,1716
1 16976896 . A G 47.97 MQFilter40 AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=1.197;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=39.44;MQ0=3;MQRankSum=-1.28;QD=2.0;ReadPosRankSum=1.28;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP5-1182A14.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418421 GT:AD:DP:GQ:PL 0/1:16,8:24:77.97:78,0,533
1 17007855 rs1236822 C T 74.21 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=33.0;MQ0=0;QD=24.74;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=AL021920.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000419267 GT:AD:DP:GQ:PL 1/1:0,3:3:9.02:106,9,0
1 17013839 rs1765548 G C 735.93 PASS AB=0.781;AC=1;AF=0.50;AN=2;BaseQRankSum=2.432;DB;DP=128;Dels=0.0;FS=3.227;HRun=0;HaplotypeScore=0.9578;MQ=58.57;MQ0=0;MQRankSum=-0.807;QD=5.75;ReadPosRankSum=0.954;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_unprocessed_pseudogene;SNPEFF_GENE_NAME=ESPNP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270691 GT:AD:DP:GQ:PL 0/1:100,28:128:99:766,0,3125
1 17013916 rs9662672 G A 236.78 QDFilter2 AB=0.87;AC=1;AF=0.50;AN=2;BaseQRankSum=1.704;DB;DP=146;Dels=0.0;FS=5.177;HRun=0;HaplotypeScore=0.0;MQ=56.5;MQ0=0;MQRankSum=1.762;QD=1.62;ReadPosRankSum=1.053;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_unprocessed_pseudogene;SNPEFF_GENE_NAME=ESPNP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270691 GT:AD:DP:GQ:PL 0/1:127,19:146:99:267,0,4055
1 17013945 rs545745 A G 525.10 PASS AB=0.802;AC=1;AF=0.50;AN=2;BaseQRankSum=1.648;DB;DP=111;Dels=0.0;FS=5.688;HRun=2;HaplotypeScore=1.8288;MQ=55.58;MQ0=0;MQRankSum=1.401;QD=4.73;ReadPosRankSum=1.087;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_unprocessed_pseudogene;SNPEFF_GENE_NAME=ESPNP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270691 GT:AD:DP:GQ:PL 0/1:89,22:111:99:555,0,2895
1 17017621 . TAGA T 548.01 PASS AB=0.805;AC=1;AF=0.50;AN=2;BaseQRankSum=0.666;DP=62;FS=1.21;HRun=0;HaplotypeScore=312.5205;IndelType=D;MQ=58.39;MQ0=0;MQRankSum=-2.134;QD=8.84;ReadPosRankSum=0.461;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_unprocessed_pseudogene;SNPEFF_GENE_NAME=ESPNP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270691 GT:AD:DP:GQ:PL 0/1:47,15:62:99:587,0,2929
1 17017675 rs2743471 C A 799.98 PASS AB=0.459;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.809;DB;DP=61;Dels=0.0;FS=5.297;HRun=0;HaplotypeScore=2.179;MQ=58.57;MQ0=0;MQRankSum=-0.603;QD=13.11;ReadPosRankSum=-0.603;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_unprocessed_pseudogene;SNPEFF_GENE_NAME=ESPNP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270691 GT:AD:DP:GQ:PL 0/1:28,33:61:99:830,0,749
1 17017717 rs12561804 C T 459.42 PASS AB=0.64;AC=1;AF=0.50;AN=2;BaseQRankSum=2.395;DB;DP=50;Dels=0.0;FS=1.161;HRun=2;HaplotypeScore=0.9995;MQ=59.19;MQ0=0;MQRankSum=0.192;QD=9.19;ReadPosRankSum=-1.203;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_unprocessed_pseudogene;SNPEFF_GENE_NAME=ESPNP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270691 GT:AD:DP:GQ:PL 0/1:32,18:50:99:489,0,996
1 17017734 rs12561805 C T 387.38 PASS AB=0.69;AC=1;AF=0.50;AN=2;BaseQRankSum=3.102;DB;DP=42;Dels=0.0;FS=1.26;HRun=0;HaplotypeScore=7.9963;MQ=58.89;MQ0=0;MQRankSum=1.388;QD=9.22;ReadPosRankSum=0.789;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_unprocessed_pseudogene;SNPEFF_GENE_NAME=ESPNP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270691 GT:AD:DP:GQ:PL 0/1:29,13:42:99:417,0,882
1 17017739 . G A 104.68 HaplotypeScoreFilter13 AB=0.8;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.606;DP=40;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=18.9641;MQ=58.84;MQ0=0;MQRankSum=0.761;QD=2.62;ReadPosRankSum=-0.423;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_unprocessed_pseudogene;SNPEFF_GENE_NAME=ESPNP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270691 GT:AD:DP:GQ:PL 0/1:32,8:40:99:135,0,1123
1 17017747 . A G 257.23 PASS AB=0.686;AC=1;AF=0.50;AN=2;BaseQRankSum=2.718;DP=36;Dels=0.0;FS=3.261;HRun=0;HaplotypeScore=5.9942;MQ=58.18;MQ0=0;MQRankSum=0.622;QD=7.15;ReadPosRankSum=-0.231;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_unprocessed_pseudogene;SNPEFF_GENE_NAME=ESPNP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270691 GT:AD:DP:GQ:PL 0/1:24,11:36:99:287,0,704
1 17022952 rs557690 C A 3484.17 PASS AC=2;AF=1.00;AN=2;DB;DP=111;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=58.71;MQ0=0;QD=31.39;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_unprocessed_pseudogene;SNPEFF_GENE_NAME=ESPNP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270691 GT:AD:DP:GQ:PL 1/1:0,111:111:99:3484,265,0
1 17023182 rs614461 C G 272.08 PASS AB=0.675;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.628;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9332;MQ=58.13;MQ0=0;MQRankSum=-0.167;QD=6.8;ReadPosRankSum=-0.137;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_unprocessed_pseudogene;SNPEFF_GENE_NAME=ESPNP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270691 GT:AD:DP:GQ:PL 0/1:27,13:40:99:302,0,915
1 17023511 rs563144 C A 476.76 PASS AB=0.118;AC=1;AF=0.50;AN=2;BaseQRankSum=0.522;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9159;MQ=58.63;MQ0=0;MQRankSum=-0.075;QD=28.04;ReadPosRankSum=-0.373;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_unprocessed_pseudogene;SNPEFF_GENE_NAME=ESPNP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270691 GT:AD:DP:GQ:PL 0/1:2,15:17:26.84:507,0,27
1 17023569 rs563960 T C 246.69 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.84;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_unprocessed_pseudogene;SNPEFF_GENE_NAME=ESPNP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270691 GT:AD:DP:GQ:PL 1/1:0,8:8:24.07:280,24,0
1 17025690 rs536183 C T 49.99 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=35.17;MQ0=0;QD=16.66;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_unprocessed_pseudogene;SNPEFF_GENE_NAME=ESPNP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270691 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:81,6,0
1 17025786 rs679703 C G 41.51 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=38.45;MQ0=0;QD=20.75;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_unprocessed_pseudogene;SNPEFF_GENE_NAME=ESPNP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270691 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:73,6,0
1 17025852 rs537296 T C 41.01 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=48.72;MQ0=0;MQRankSum=0.731;QD=8.2;ReadPosRankSum=0.731;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_unprocessed_pseudogene;SNPEFF_GENE_NAME=ESPNP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270691 GT:AD:DP:GQ:PL 0/1:1,4:5:24.41:71,0,24
1 17026466 rs114606754 C T 99.43 PASS AB=0.692;AC=1;AF=0.50;AN=2;BaseQRankSum=1.312;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.2;MQ0=0;MQRankSum=0.231;QD=7.65;ReadPosRankSum=0.694;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_unprocessed_pseudogene;SNPEFF_GENE_NAME=ESPNP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270691 GT:AD:DP:GQ:PL 0/1:9,4:13:99:129,0,209
1 17026504 . G A 85.51 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.825;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.33;MQ0=0;MQRankSum=0.143;QD=6.11;ReadPosRankSum=0.387;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_unprocessed_pseudogene;SNPEFF_GENE_NAME=ESPNP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270691 GT:AD:DP:GQ:PL 0/1:9,5:14:99:116,0,189
1 17029281 rs137866947 G C 527.78 PASS AB=0.662;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.184;DB;DP=74;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9469;MQ=58.03;MQ0=0;MQRankSum=0.951;QD=7.13;ReadPosRankSum=-1.102;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_processed_pseudogene;SNPEFF_GENE_NAME=RP1-163M9.6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000535711 GT:AD:DP:GQ:PL 0/1:49,25:74:99:558,0,1527
1 17029513 rs523936 C G 405.01 PASS AB=0.158;AC=1;AF=0.50;AN=2;BaseQRankSum=2.251;DB;DP=19;Dels=0.0;FS=3.542;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-2.369;QD=21.32;ReadPosRankSum=-0.711;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_processed_pseudogene;SNPEFF_GENE_NAME=RP1-163M9.6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000535711 GT:AD:DP:GQ:PL 0/1:3,16:19:65.55:435,0,66
1 17030325 rs601893 A G 151.55 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=43.99;MQ0=0;QD=21.65;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_processed_pseudogene;SNPEFF_GENE_NAME=RP1-163M9.6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000535711 GT:AD:DP:GQ:PL 1/1:0,7:7:15.05:184,15,0
1 17030336 rs4661915 C T 48.69 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.652;DB;DP=9;Dels=0.0;FS=3.68;HRun=1;HaplotypeScore=0.0;MQ=44.02;MQ0=0;MQRankSum=0.0;QD=5.41;ReadPosRankSum=-0.361;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_processed_pseudogene;SNPEFF_GENE_NAME=RP1-163M9.6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000535711 GT:AD:DP:GQ:PL 0/1:5,4:9:78.69:79,0,149
1 17030415 . C G 141.40 PASS AB=0.708;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.236;DP=48;Dels=0.0;FS=9.156;HRun=0;HaplotypeScore=0.0;MQ=48.86;MQ0=0;MQRankSum=-1.07;QD=2.95;ReadPosRankSum=0.42;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_processed_pseudogene;SNPEFF_GENE_NAME=RP1-163M9.6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000535711 GT:AD:DP:GQ:PL 0/1:34,14:48:99:171,0,1060
1 17030504 rs601031 T A 296.64 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=3.114;DB;DP=93;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=4.8009;MQ=47.7;MQ0=0;MQRankSum=-2.106;QD=3.19;ReadPosRankSum=-1.737;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_processed_pseudogene;SNPEFF_GENE_NAME=RP1-163M9.6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000535711 GT:AD:DP:GQ:PL 0/1:42,24:93:99:327,0,1284
1 17030515 . G A 218.61 PASS AB=0.747;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.722;DP=84;Dels=0.0;FS=1.48;HRun=1;HaplotypeScore=1.7128;MQ=48.01;MQ0=0;MQRankSum=-2.308;QD=2.6;ReadPosRankSum=-0.411;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_processed_pseudogene;SNPEFF_GENE_NAME=RP1-163M9.6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000535711 GT:AD:DP:GQ:PL 0/1:62,21:84:99:249,0,1528
1 17030590 rs590170 G A 188.34 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.702;DB;DP=40;Dels=0.0;FS=2.561;HRun=0;HaplotypeScore=0.0;MQ=46.82;MQ0=0;MQRankSum=-0.016;QD=4.71;ReadPosRankSum=0.515;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_processed_pseudogene;SNPEFF_GENE_NAME=RP1-163M9.6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000535711 GT:AD:DP:GQ:PL 0/1:30,10:40:99:218,0,932
1 17030716 rs4661917 G A 81.59 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.72;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=49.17;MQ0=0;MQRankSum=-0.72;QD=11.66;ReadPosRankSum=1.38;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_processed_pseudogene;SNPEFF_GENE_NAME=RP1-163M9.6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000535711 GT:AD:DP:GQ:PL 0/1:2,4:7:61.28:112,0,61
1 17033758 rs1736691 A G 305.62 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=50.55;MQ0=0;QD=25.47;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_unprocessed_pseudogene;SNPEFF_GENE_NAME=ESPNP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270691 GT:AD:DP:GQ:PL 1/1:0,12:12:30.06:339,30,0
1 17033805 rs59259153 C T 210.26 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.415;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9578;MQ=52.72;MQ0=0;MQRankSum=-2.489;QD=11.68;ReadPosRankSum=-1.025;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_unprocessed_pseudogene;SNPEFF_GENE_NAME=ESPNP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270691 GT:AD:DP:GQ:PL 0/1:8,10:18:99:240,0,199
1 17033854 rs2476568 C T 144.42 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=1.684;DB;DP=18;Dels=0.0;FS=5.497;HRun=0;HaplotypeScore=0.0;MQ=54.35;MQ0=0;MQRankSum=-0.914;QD=8.02;ReadPosRankSum=-0.818;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_unprocessed_pseudogene;SNPEFF_GENE_NAME=ESPNP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270691 GT:AD:DP:GQ:PL 0/1:8,9:18:99:174,0,205
1 17034041 rs2743505 T C 320.55 PASS AB=0.188;AC=1;AF=0.50;AN=2;BaseQRankSum=1.557;DB;DP=16;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.5784;MQ=57.05;MQ0=0;MQRankSum=0.156;QD=20.03;ReadPosRankSum=-0.778;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_unprocessed_pseudogene;SNPEFF_GENE_NAME=ESPNP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270691 GT:AD:DP:GQ:PL 0/1:3,13:16:39.47:351,0,39
1 17034125 rs79472512 C CAGCT 304.37 PASS AB=0.792;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.253;DB;DP=19;FS=0.0;HRun=0;HaplotypeScore=82.8963;IndelType=I;MQ=55.57;MQ0=0;MQRankSum=-0.69;QD=16.02;ReadPosRankSum=0.493;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_unprocessed_pseudogene;SNPEFF_GENE_NAME=ESPNP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270691 GT:AD:DP:GQ:PL 0/1:14,5:19:99:343,0,638
1 17034595 . C G 35.48 QDFilter2 AB=0.81;AC=1;AF=0.50;AN=2;BaseQRankSum=1.087;DP=21;Dels=0.0;FS=2.35;HRun=1;HaplotypeScore=0.0;MQ=42.68;MQ0=0;MQRankSum=0.047;QD=1.69;ReadPosRankSum=-0.992;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_unprocessed_pseudogene;SNPEFF_GENE_NAME=ESPNP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270691 GT:AD:DP:GQ:PL 0/1:17,4:21:65.47:65,0,405
1 17046456 rs3856292 T C 47.49 QDFilter2 AB=0.871;AC=1;AF=0.50;AN=2;BaseQRankSum=1.974;DB;DP=31;Dels=0.0;FS=2.599;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.972;QD=1.53;ReadPosRankSum=0.442;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_unprocessed_pseudogene;SNPEFF_GENE_NAME=ESPNP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270691 GT:AD:DP:GQ:PL 0/1:27,4:31:77.49:77,0,915
1 17046549 rs1755332 G A 965.31 PASS AB=0.361;AC=1;AF=0.50;AN=2;BaseQRankSum=2.75;DB;DP=62;Dels=0.0;FS=1.199;HRun=0;HaplotypeScore=1.7219;MQ=58.88;MQ0=0;MQRankSum=1.532;QD=15.57;ReadPosRankSum=-1.514;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_unprocessed_pseudogene;SNPEFF_GENE_NAME=ESPNP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270691 GT:AD:DP:GQ:PL 0/1:22,39:62:99:995,0,395
1 17046595 rs3856293 T C 260.84 PASS AB=0.775;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.261;DB;DP=71;Dels=0.0;FS=4.613;HRun=0;HaplotypeScore=3.7783;MQ=59.41;MQ0=0;MQRankSum=0.094;QD=3.67;ReadPosRankSum=1.263;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_unprocessed_pseudogene;SNPEFF_GENE_NAME=ESPNP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270691 GT:AD:DP:GQ:PL 0/1:55,16:71:99:291,0,1688
1 17046613 rs3856294 C T 1372.08 PASS AB=0.338;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.057;DB;DP=77;Dels=0.0;FS=0.92;HRun=0;HaplotypeScore=0.9993;MQ=59.46;MQ0=0;MQRankSum=0.312;QD=17.82;ReadPosRankSum=-2.119;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_unprocessed_pseudogene;SNPEFF_GENE_NAME=ESPNP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270691 GT:AD:DP:GQ:PL 0/1:26,51:77:99:1402,0,719
1 17046796 rs1755333 G A 162.36 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.47;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_unprocessed_pseudogene;SNPEFF_GENE_NAME=ESPNP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270691 GT:AD:DP:GQ:PL 1/1:0,5:5:15.04:195,15,0
1 17046831 rs9661747 A G 43.22 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=14.41;ReadPosRankSum=0.736;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_unprocessed_pseudogene;SNPEFF_GENE_NAME=ESPNP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270691 GT:AD:DP:GQ:PL 0/1:1,2:3:31.62:73,0,32
1 17083568 rs10159208 G A 155.52 MQFilter40 AB=0.242;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.156;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=24.12;MQ0=12;MQRankSum=-2.35;QD=4.71;ReadPosRankSum=-0.933;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MST1P9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000442552 GT:AD:DP:GQ:PL 0/1:8,25:33:99:186,0,220
1 17083597 rs186155999 G A 53.48 MQFilter40;QDFilter2 AB=0.841;AC=1;AF=0.50;AN=2;BaseQRankSum=3.426;DB;DP=69;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9092;MQ=32.12;MQ0=14;MQRankSum=-2.423;QD=0.78;ReadPosRankSum=-1.349;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MST1P9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000442552 GT:AD:DP:GQ:PL 0/1:58,11:69:83.47:83,0,1236
1 17083652 rs113710576 C T 593.61 MQFilter40 AB=0.818;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.101;DB;DP=181;Dels=0.0;FS=6.985;HRun=2;HaplotypeScore=3.3976;MQ=36.09;MQ0=10;MQRankSum=-0.386;QD=3.28;ReadPosRankSum=0.893;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MST1P9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000442552 GT:AD:DP:GQ:PL 0/1:148,33:181:99:624,0,4228
1 17083671 rs1057420 C G 2555.50 MQFilter40 AB=0.42;AC=1;AF=0.50;AN=2;BaseQRankSum=-9.363;DB;DP=212;Dels=0.0;FS=5.491;HRun=0;HaplotypeScore=6.2878;MQ=34.37;MQ0=18;MQRankSum=1.176;QD=12.0;ReadPosRankSum=-2.23;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MST1P9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000442552 GT:AD:DP:GQ:PL 0/1:89,123:212:99:2585,0,2066
1 17083685 rs3197973 C A 2222.17 MQFilter40 AB=0.506;AC=1;AF=0.50;AN=2;BaseQRankSum=2.786;DB;DP=239;Dels=0.0;FS=5.883;HRun=2;HaplotypeScore=5.4777;MQ=31.6;MQ0=29;MQRankSum=0.771;QD=9.3;ReadPosRankSum=-1.905;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MST1P9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000442552 GT:AD:DP:GQ:PL 0/1:121,118:239:99:2252,0,2450
1 17083782 . A C 271.84 HaplotypeScoreFilter13;MQFilter40;QDFilter2 AB=0.814;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.224;DP=156;DS;Dels=0.0;FS=15.672;HRun=0;HaplotypeScore=36.2669;MQ=26.09;MQ0=30;MQRankSum=-1.165;QD=1.74;ReadPosRankSum=1.221;SNPEFF_AMINO_ACID_CHANGE=F672C;SNPEFF_CODON_CHANGE=tTc/tGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_17081603_17083888;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MST1P9;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000334998 GT:AD:DP:GQ:PL 0/1:127,29:156:99:302,0,2487
1 17083787 . G A 954.41 HaplotypeScoreFilter13;MQFilter40 AB=0.646;AC=1;AF=0.50;AN=2;BaseQRankSum=4.674;DP=148;DS;Dels=0.0;FS=7.134;HRun=0;HaplotypeScore=25.3771;MQ=26.88;MQ0=26;MQRankSum=0.501;QD=6.45;ReadPosRankSum=-0.072;SNPEFF_AMINO_ACID_CHANGE=A670;SNPEFF_CODON_CHANGE=gcC/gcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_17081603_17083888;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MST1P9;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000334998 GT:AD:DP:GQ:PL 0/1:95,52:148:99:984,0,1715
1 17083807 rs9286084 T C 833.95 MQFilter40 AB=0.488;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.494;DB;DP=123;DS;Dels=0.0;FS=30.174;HRun=0;HaplotypeScore=12.5532;MQ=28.03;MQ0=18;MQRankSum=0.21;QD=6.78;ReadPosRankSum=-1.648;SNPEFF_AMINO_ACID_CHANGE=T664A;SNPEFF_CODON_CHANGE=Aca/Gca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_17081603_17083888;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MST1P9;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000334998 GT:AD:DP:GQ:PL 0/1:60,63:123:99:864,0,1343
1 17083837 rs7798 T C 1078.59 MQFilter40 AB=0.539;AC=1;AF=0.50;AN=2;BaseQRankSum=1.088;DB;DP=115;Dels=0.0;FS=1.233;HRun=1;HaplotypeScore=0.8321;MQ=26.91;MQ0=26;MQRankSum=-0.457;QD=9.38;ReadPosRankSum=0.619;SNPEFF_AMINO_ACID_CHANGE=K654E;SNPEFF_CODON_CHANGE=Aaa/Gaa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_17081603_17083888;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MST1P9;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000334998 GT:AD:DP:GQ:PL 0/1:62,53:115:99:1109,0,857
1 17083888 rs75141545 C T 565.50 MQFilter40 AB=0.595;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.619;DB;DP=116;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=18.18;MQ0=63;MQRankSum=2.27;QD=4.88;ReadPosRankSum=-0.655;SNPEFF_AMINO_ACID_CHANGE=G637S;SNPEFF_CODON_CHANGE=Ggt/Agt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_17081603_17083888;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MST1P9;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000334998 GT:AD:DP:GQ:PL 0/1:69,47:116:99:595,0,303
1 17083929 rs138589297 A C 59.39 MQFilter40;QDFilter2 AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=1.133;DB;DP=140;Dels=0.0;FS=1.987;HRun=1;HaplotypeScore=6.6109;MQ=12.55;MQ0=82;MQRankSum=-1.327;QD=0.42;ReadPosRankSum=2.767;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MST1P9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000544155 GT:AD:DP:GQ:PL 0/1:90,50:140:89.39:89,0,571
1 17083984 rs71269410 C T 308.56 MQFilter40;QDFilter2 AB=0.78;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.553;DB;DP=250;DS;Dels=0.0;FS=5.073;HRun=0;HaplotypeScore=3.681;MQ=14.78;MQ0=101;MQRankSum=1.502;QD=1.23;ReadPosRankSum=-0.322;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MST1P9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000544155 GT:AD:DP:GQ:PL 0/1:195,55:250:99:339,0,1159
1 17084006 rs2446544 C T 1151.86 MQFilter40 AB=0.272;AC=1;AF=0.50;AN=2;BaseQRankSum=0.986;DB;DP=250;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.57;MQ=15.12;MQ0=93;MQRankSum=-0.42;QD=4.61;ReadPosRankSum=0.544;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MST1P9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000544155 GT:AD:DP:GQ:PL 0/1:68,182:250:99:1182,0,327
1 17084021 rs2446543 C G 349.44 MQFilter40;QDFilter2 AB=0.801;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.1;DB;DP=246;DS;Dels=0.0;FS=4.815;HRun=2;HaplotypeScore=1.9411;MQ=18.56;MQ0=79;MQRankSum=1.031;QD=1.42;ReadPosRankSum=-0.904;SNPEFF_AMINO_ACID_CHANGE=A634P;SNPEFF_CODON_CHANGE=Gcc/Ccc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_17084013_17084152;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MST1P9;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000334998 GT:AD:DP:GQ:PL 0/1:197,49:246:99:379,0,1681
1 17084755 rs140682808 T C 93.46 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=18.41;MQ0=6;QD=4.67;SNPEFF_AMINO_ACID_CHANGE=V485;SNPEFF_CODON_CHANGE=gtA/gtG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_17084711_17084788;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MST1P9;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000389184 GT:AD:DP:GQ:PL 1/1:0,20:20:12.01:126,12,0
1 17084815 rs11260922 G A 234.69 MQFilter40 AB=0.231;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.391;DB;DP=26;Dels=0.0;FS=3.522;HRun=2;HaplotypeScore=0.9332;MQ=20.7;MQ0=7;MQRankSum=-0.615;QD=9.03;ReadPosRankSum=-0.839;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MST1P9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000545160 GT:AD:DP:GQ:PL 0/1:6,20:26:24.06:265,0,24
1 17084968 rs2761533 G C 745.83 MQFilter40 AB=0.693;AC=1;AF=0.50;AN=2;BaseQRankSum=4.747;DB;DP=138;Dels=0.0;FS=12.499;HRun=2;HaplotypeScore=3.7136;MQ=34.06;MQ0=16;MQRankSum=3.68;QD=5.4;ReadPosRankSum=-1.302;SNPEFF_AMINO_ACID_CHANGE=R472G;SNPEFF_CODON_CHANGE=Cgg/Ggg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_17084961_17085081;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MST1P9;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000389184 GT:AD:DP:GQ:PL 0/1:95,42:138:99:776,0,1784
1 17085165 rs2490828 G C 511.28 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=8.7208;MQ=21.01;MQ0=21;QD=8.52;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MST1P9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000545160 GT:AD:DP:GQ:PL 1/1:0,47:60:51.11:544,51,0
1 17085171 . T C 51.85 MQFilter40;QDFilter2 AB=0.847;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.021;DP=59;Dels=0.0;FS=12.879;HRun=2;HaplotypeScore=9.8256;MQ=22.05;MQ0=22;MQRankSum=2.441;QD=0.88;ReadPosRankSum=-0.531;SNPEFF_AMINO_ACID_CHANGE=N434D;SNPEFF_CODON_CHANGE=Aac/Gac;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_17085171_17085206;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MST1P9;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000389184 GT:AD:DP:GQ:PL 0/1:50,9:59:81.84:82,0,503
1 17085255 rs2281029 A G 481.13 MQFilter40 AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=1.414;DB;DP=35;Dels=0.03;FS=7.915;HRun=3;HaplotypeScore=0.0;MQ=30.53;MQ0=8;MQRankSum=1.98;QD=13.36;ReadPosRankSum=-0.386;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MST1P9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000545160 GT:AD:DP:GQ:PL 0/1:15,20:35:99:511,0,140
1 17085265 rs2490829 T C 67.99 MQFilter40 AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=2.13;DB;DP=32;Dels=0.0;FS=9.129;HRun=0;HaplotypeScore=0.9987;MQ=33.74;MQ0=4;MQRankSum=-2.517;QD=2.12;ReadPosRankSum=2.075;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MST1P9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000545160 GT:AD:DP:GQ:PL 0/1:20,12:32:97.99:98,0,579
1 17085267 rs2077142 A G 71 MQFilter40 AB=0.613;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.885;DB;DP=31;Dels=0.0;FS=12.161;HRun=2;HaplotypeScore=0.9987;MQ=34.03;MQ0=3;MQRankSum=-2.469;QD=2.29;ReadPosRankSum=1.407;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MST1P9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000545160 GT:AD:DP:GQ:PL 0/1:19,12:31:99:101,0,561
1 17085412 rs872964 C T 294.27 MQFilter40 AB=0.696;AC=1;AF=0.50;AN=2;BaseQRankSum=1.565;DB;DP=69;Dels=0.0;FS=2.454;HRun=0;HaplotypeScore=0.9933;MQ=36.8;MQ0=5;MQRankSum=-1.984;QD=4.26;ReadPosRankSum=1.056;SNPEFF_AMINO_ACID_CHANGE=A427T;SNPEFF_CODON_CHANGE=Gca/Aca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_17085298_17085530;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MST1P9;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000334998 GT:AD:DP:GQ:PL 0/1:48,21:69:99:324,0,1177
1 17085427 rs2002186 T C 579.40 MQFilter40 AB=0.581;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.273;DB;DP=74;Dels=0.0;FS=2.044;HRun=0;HaplotypeScore=2.932;MQ=38.64;MQ0=2;MQRankSum=-2.342;QD=7.83;ReadPosRankSum=-0.126;SNPEFF_AMINO_ACID_CHANGE=I422V;SNPEFF_CODON_CHANGE=Att/Gtt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_17085298_17085530;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MST1P9;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000334998 GT:AD:DP:GQ:PL 0/1:43,31:74:99:609,0,1278
1 17085502 rs2329006 T C 659.51 MQFilter40 AB=0.447;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.45;DB;DP=85;Dels=0.0;FS=6.249;HRun=1;HaplotypeScore=2.8216;MQ=28.24;MQ0=14;MQRankSum=0.463;QD=7.76;ReadPosRankSum=-0.719;SNPEFF_AMINO_ACID_CHANGE=M397V;SNPEFF_CODON_CHANGE=Atg/Gtg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_17085298_17085530;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MST1P9;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000334998 GT:AD:DP:GQ:PL 0/1:38,47:85:99:690,0,504
1 17085564 rs3851921 A G 237.77 MQFilter40 AB=0.427;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.164;DB;DP=82;Dels=0.0;FS=2.982;HRun=1;HaplotypeScore=1.8857;MQ=28.93;MQ0=12;MQRankSum=-5.916;QD=2.9;ReadPosRankSum=-1.517;SNPEFF_AMINO_ACID_CHANGE=L376P;SNPEFF_CODON_CHANGE=cTg/cCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_17085561_17085663;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MST1P9;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000389184 GT:AD:DP:GQ:PL 0/1:35,47:82:99:268,0,858
1 17085671 rs3863806 C G 89.95 MQFilter40;QDFilter2 AB=0.759;AC=1;AF=0.50;AN=2;BaseQRankSum=1.475;DB;DP=58;Dels=0.0;FS=5.224;HRun=2;HaplotypeScore=0.0;MQ=32.38;MQ0=3;MQRankSum=-3.476;QD=1.55;ReadPosRankSum=1.393;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MST1P9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000545160 GT:AD:DP:GQ:PL 0/1:44,14:58:99:120,0,852
1 17085677 rs3863805 G A 101.25 MQFilter40;QDFilter2 AB=0.759;AC=1;AF=0.50;AN=2;BaseQRankSum=1.21;DB;DP=59;Dels=0.0;FS=8.531;HRun=0;HaplotypeScore=0.0;MQ=33.68;MQ0=3;MQRankSum=-2.52;QD=1.72;ReadPosRankSum=1.033;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MST1P9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000545160 GT:AD:DP:GQ:PL 0/1:44,14:59:99:131,0,882
1 17085712 rs3863803 C T 40.77 MQFilter40;QDFilter2 AB=0.804;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.354;DB;DP=55;Dels=0.0;FS=2.0;HRun=1;HaplotypeScore=4.9245;MQ=34.43;MQ0=2;MQRankSum=-1.854;QD=0.74;ReadPosRankSum=-1.628;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MST1P9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000545160 GT:AD:DP:GQ:PL 0/1:41,10:55:70.76:71,0,950
1 17085834 rs2005622 G T 597.30 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=33.16;MQ0=7;QD=18.1;SNPEFF_AMINO_ACID_CHANGE=T319;SNPEFF_CODON_CHANGE=acC/acA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_17085764_17085894;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MST1P9;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000389184 GT:AD:DP:GQ:PL 1/1:0,33:33:51.14:630,51,0
1 17085908 rs1805293 C G 333.89 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=35.71;MQ0=4;QD=15.9;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MST1P9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000545160 GT:AD:DP:GQ:PL 1/1:2,19:21:33.07:367,33,0
1 17086236 . G C 95.67 MQFilter40 AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.067;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=22.81;MQ0=3;MQRankSum=0.0;QD=7.97;ReadPosRankSum=-0.572;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MST1P9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000545160 GT:AD:DP:GQ:PL 0/1:6,6:12:21.98:126,0,22
1 17086870 . T C 334.59 MQFilter40 AC=2;AF=1.00;AN=2;DP=21;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=22.82;MQ0=6;QD=15.93;SNPEFF_AMINO_ACID_CHANGE=S152G;SNPEFF_CODON_CHANGE=Agc/Ggc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_17086849_17086985;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MST1P9;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000334998 GT:AD:DP:GQ:PL 1/1:0,21:21:33.09:368,33,0
1 17086937 . G T 56.77 HaplotypeScoreFilter13;MQFilter40;QDFilter2 AB=0.864;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.106;DP=44;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=14.65;MQ=22.02;MQ0=22;MQRankSum=-1.858;QD=1.29;ReadPosRankSum=0.784;SNPEFF_AMINO_ACID_CHANGE=N129K;SNPEFF_CODON_CHANGE=aaC/aaA;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_17086849_17086985;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MST1P9;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000334998 GT:AD:DP:GQ:PL 0/1:38,6:44:86.76:87,0,510
1 17086939 . TAC T 142.80 PASS AB=0.896;AC=1;AF=0.50;AN=2;BaseQRankSum=3.014;DP=22;FS=0.0;HRun=0;HaplotypeScore=125.5268;IndelType=D;MQ=22.27;MQ0=21;MQRankSum=-1.858;QD=3.32;ReadPosRankSum=0.95;SNPEFF_EFFECT=FRAME_SHIFT;SNPEFF_EXON_ID=exon_1_17086849_17086985;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MST1P9;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000334998 GT:AD:DP:GQ:PL 0/1:38,5:22:99:182,0,752
1 17087103 . G C 224.57 MQFilter40;QDFilter2 AB=0.885;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.982;DP=192;Dels=0.0;FS=0.989;HRun=0;HaplotypeScore=4.7651;MQ=34.44;MQ0=61;MQRankSum=-1.738;QD=1.17;ReadPosRankSum=1.302;SNPEFF_AMINO_ACID_CHANGE=S105C;SNPEFF_CODON_CHANGE=tCc/tGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_17087064_17087178;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MST1P9;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000389184 GT:AD:DP:GQ:PL 0/1:170,22:192:99:255,0,3183
1 17087116 . C T 250.99 MQFilter40;QDFilter2 AB=0.892;AC=1;AF=0.50;AN=2;BaseQRankSum=4.189;DP=205;Dels=0.0;FS=0.977;HRun=0;HaplotypeScore=2.8106;MQ=32.22;MQ0=68;MQRankSum=-0.65;QD=1.22;ReadPosRankSum=1.072;SNPEFF_AMINO_ACID_CHANGE=V101M;SNPEFF_CODON_CHANGE=Gtg/Atg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_17087064_17087178;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MST1P9;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000389184 GT:AD:DP:GQ:PL 0/1:182,22:205:99:281,0,2917
1 17087159 rs181826692 G C 66.24 MQFilter40;QDFilter2 AB=0.92;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.651;DB;DP=226;Dels=0.0;FS=17.559;HRun=0;HaplotypeScore=0.0;MQ=22.93;MQ0=101;MQRankSum=-0.682;QD=0.29;ReadPosRankSum=-0.828;SNPEFF_AMINO_ACID_CHANGE=I86M;SNPEFF_CODON_CHANGE=atC/atG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_17087064_17087178;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MST1P9;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000389184 GT:AD:DP:GQ:PL 0/1:208,18:226:96.23:96,0,3053
1 17087244 rs140259009 AC A 1794.04 PASS AB=0.735;AC=1;AF=0.50;AN=2;BaseQRankSum=-7.347;DB;DP=134;FS=0.664;HRun=5;HaplotypeScore=759.7233;IndelType=D;MQ=33.86;MQ0=62;MQRankSum=0.976;QD=8.75;ReadPosRankSum=0.386;SNPEFF_EFFECT=SPLICE_SITE_DONOR;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MST1P9;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000334998 GT:AD:DP:GQ:PL 0/1:131,73:134:99:1833,0,2123
1 17087262 rs2926375 C T 1583.94 MQFilter40 AB=0.476;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.709;DB;DP=192;Dels=0.0;FS=4.315;HRun=1;HaplotypeScore=4.4596;MQ=36.59;MQ0=52;MQRankSum=-0.802;QD=8.25;ReadPosRankSum=1.433;SNPEFF_AMINO_ACID_CHANGE=E108K;SNPEFF_CODON_CHANGE=Gag/Aag;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_17087246_17087368;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MST1P9;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000334998 GT:AD:DP:GQ:PL 0/1:91,100:192:99:1614,0,2002
1 17087292 rs2179161 A G 80.37 HaplotypeScoreFilter13;QDFilter2 AB=0.795;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.064;DB;DP=171;Dels=0.0;FS=44.327;HRun=0;HaplotypeScore=26.7938;MQ=45.58;MQ0=13;MQRankSum=-6.676;QD=0.47;ReadPosRankSum=0.243;SNPEFF_AMINO_ACID_CHANGE=W68R;SNPEFF_CODON_CHANGE=Tgg/Cgg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_17087256_17087368;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MST1P9;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000389184 GT:AD:DP:GQ:PL 0/1:136,35:171:99:110,0,4144
1 17087299 rs2179162 T C 1811.99 HaplotypeScoreFilter13 AB=0.433;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.237;DB;DP=171;Dels=0.0;FS=17.678;HRun=0;HaplotypeScore=46.6793;MQ=45.02;MQ0=18;MQRankSum=-1.902;QD=10.6;ReadPosRankSum=0.143;SNPEFF_AMINO_ACID_CHANGE=S65;SNPEFF_CODON_CHANGE=tcA/tcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_17087256_17087368;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MST1P9;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000389184 GT:AD:DP:GQ:PL 0/1:74,97:171:99:1842,0,2175
1 17087305 rs12046578 G C 323.21 HaplotypeScoreFilter13;QDFilter2 AB=0.739;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.273;DB;DP=176;Dels=0.0;FS=34.664;HRun=0;HaplotypeScore=34.239;MQ=45.48;MQ0=18;MQRankSum=-6.637;QD=1.84;ReadPosRankSum=-1.117;SNPEFF_AMINO_ACID_CHANGE=P63;SNPEFF_CODON_CHANGE=ccC/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_17087256_17087368;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MST1P9;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000389184 GT:AD:DP:GQ:PL 0/1:130,46:176:99:353,0,3990
1 17087365 rs2446556 C G 2585.10 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=3.448;DB;DP=168;Dels=0.0;FS=1.328;HRun=1;HaplotypeScore=2.5648;MQ=48.39;MQ0=8;MQRankSum=-3.155;QD=15.39;ReadPosRankSum=0.965;SNPEFF_AMINO_ACID_CHANGE=A43;SNPEFF_CODON_CHANGE=gcG/gcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_17087256_17087368;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MST1P9;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000389184 GT:AD:DP:GQ:PL 0/1:63,105:168:99:2615,0,1664
1 17087465 rs11260924 G A 1236.15 PASS AB=0.711;AC=1;AF=0.50;AN=2;BaseQRankSum=0.201;DB;DP=235;Dels=0.0;FS=2.738;HRun=0;HaplotypeScore=2.642;MQ=48.18;MQ0=1;MQRankSum=-2.258;QD=5.26;ReadPosRankSum=1.747;SNPEFF_AMINO_ACID_CHANGE=P37L;SNPEFF_CODON_CHANGE=cCc/cTc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_17087450_17087541;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MST1P9;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000389184 GT:AD:DP:GQ:PL 0/1:167,68:235:99:1266,0,4595
1 17087521 rs11589598 G A 603.64 PASS AB=0.784;AC=1;AF=0.50;AN=2;BaseQRankSum=3.227;DB;DP=167;Dels=0.0;FS=5.898;HRun=0;HaplotypeScore=2.9694;MQ=44.03;MQ0=4;MQRankSum=1.183;QD=3.61;ReadPosRankSum=-0.94;SNPEFF_AMINO_ACID_CHANGE=P18;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_17087450_17087541;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MST1P9;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000389184 GT:AD:DP:GQ:PL 0/1:131,36:167:99:634,0,3046
1 17087530 . C T 511.79 PASS AB=0.781;AC=1;AF=0.50;AN=2;BaseQRankSum=4.922;DP=155;Dels=0.0;FS=6.288;HRun=0;HaplotypeScore=1.9722;MQ=44.16;MQ0=4;MQRankSum=1.631;QD=3.3;ReadPosRankSum=-0.567;SNPEFF_AMINO_ACID_CHANGE=A15;SNPEFF_CODON_CHANGE=gcG/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_17087450_17087541;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MST1P9;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000389184 GT:AD:DP:GQ:PL 0/1:121,34:155:99:542,0,2689
1 17087541 rs113982165 GGTGCT G 1320.13 PASS AB=0.78;AC=1;AF=0.50;AN=2;BaseQRankSum=3.348;DB;DP=117;FS=2.152;HRun=0;HaplotypeScore=893.6398;IndelType=D;MQ=44.2;MQ0=4;MQRankSum=-2.098;QD=9.3;ReadPosRankSum=0.799;SNPEFF_EFFECT=FRAME_SHIFT;SNPEFF_EXON_ID=exon_1_17087450_17087597;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MST1P9;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000334998 GT:AD:DP:GQ:PL 0/1:102,40:117:99:1359,0,7312
1 17087582 rs10907280 G A 850.65 PASS AB=0.381;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.052;DB;DP=84;Dels=0.0;FS=6.362;HRun=1;HaplotypeScore=1.6643;MQ=45.09;MQ0=2;MQRankSum=-5.59;QD=10.13;ReadPosRankSum=-0.85;SNPEFF_AMINO_ACID_CHANGE=S28L;SNPEFF_CODON_CHANGE=tCg/tTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_17087450_17087597;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MST1P9;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000334998 GT:AD:DP:GQ:PL 0/1:32,52:84:99:881,0,920
1 17195000 . T G 135.35 PASS AB=0.859;AC=1;AF=0.50;AN=2;BaseQRankSum=0.579;DP=64;Dels=0.0;FS=5.294;HRun=0;HaplotypeScore=0.0;MQ=50.45;MQ0=0;MQRankSum=1.487;QD=2.11;ReadPosRankSum=0.811;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BX284668.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356370 GT:AD:DP:GQ:PL 0/1:55,9:64:99:165,0,1730
1 17195145 rs116833708 G C 888.10 PASS AB=0.186;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.677;DB;DP=43;Dels=0.0;FS=3.804;HRun=0;HaplotypeScore=0.0;MQ=46.72;MQ0=3;MQRankSum=-0.238;QD=20.65;ReadPosRankSum=-0.677;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BX284668.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356370 GT:AD:DP:GQ:PL 0/1:8,35:43:99:918,0,184
1 17197563 rs7556482 G T 578.20 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=4.506;DB;DP=90;Dels=0.0;FS=10.582;HRun=0;HaplotypeScore=4.8249;MQ=46.07;MQ0=7;MQRankSum=-7.047;QD=6.42;ReadPosRankSum=1.427;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BX284668.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356370 GT:AD:DP:GQ:PL 0/1:50,40:90:99:608,0,1336
1 17197597 rs191458543 G A 159.89 QDFilter2 AB=0.765;AC=1;AF=0.50;AN=2;BaseQRankSum=0.403;DB;DP=103;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=5.8093;MQ=46.03;MQ0=8;MQRankSum=-3.762;QD=1.55;ReadPosRankSum=-1.665;SNPEFF_AMINO_ACID_CHANGE=G124;SNPEFF_CODON_CHANGE=ggC/ggT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_17196254_17197628;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BX284668.1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000356370 GT:AD:DP:GQ:PL 0/1:78,24:103:99:190,0,2086
1 17197685 rs7513766 G A 466.12 PASS AB=0.509;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.621;DB;DP=53;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=8.6813;MQ=45.65;MQ0=2;MQRankSum=-3.563;QD=8.79;ReadPosRankSum=-0.884;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BX284668.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356370 GT:AD:DP:GQ:PL 0/1:27,26:53:99:496,0,779
1 17197724 rs3897252 C G 34.39 QDFilter2 AB=0.833;AC=1;AF=0.50;AN=2;BaseQRankSum=1.715;DB;DP=42;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=6.6295;MQ=49.61;MQ0=0;MQRankSum=-2.165;QD=0.82;ReadPosRankSum=-0.606;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BX284668.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356370 GT:AD:DP:GQ:PL 0/1:35,7:42:64.38:64,0,1134
1 17198518 rs141922545 T G 35.63 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=13.93;MQ0=10;QD=2.74;SNPEFF_AMINO_ACID_CHANGE=K42N;SNPEFF_CODON_CHANGE=aaA/aaC;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_17198304_17198668;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BX284668.1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000356370 GT:AD:DP:GQ:PL 1/1:0,13:13:6.02:67,6,0
1 17198698 rs12091630 A T 321.13 PASS AB=0.808;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.186;DB;DP=78;Dels=0.0;FS=4.645;HRun=0;HaplotypeScore=2.5589;MQ=42.56;MQ0=6;MQRankSum=1.619;QD=4.12;ReadPosRankSum=0.873;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BX284668.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356370 GT:AD:DP:GQ:PL 0/1:63,15:78:99:351,0,1460
1 17198720 rs7367792 T C 266.49 PASS AB=0.639;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.123;DB;DP=61;Dels=0.0;FS=1.49;HRun=3;HaplotypeScore=0.9997;MQ=46.4;MQ0=2;MQRankSum=-5.358;QD=4.37;ReadPosRankSum=-0.466;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BX284668.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356370 GT:AD:DP:GQ:PL 0/1:39,22:61:99:296,0,1095
1 17198765 rs60412129 G A 195.67 PASS AB=0.711;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.749;DB;DP=45;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=44.36;MQ0=1;MQRankSum=-3.576;QD=4.35;ReadPosRankSum=0.412;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BX284668.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356370 GT:AD:DP:GQ:PL 0/1:32,13:45:99:226,0,946
1 17248885 rs6694144 G A 48.08 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.04;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CROCC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375541 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
1 17249395 rs6586567 A G 1814.41 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.797;MQ=59.07;MQ0=0;QD=36.29;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CROCC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375541 GT:AD:DP:GQ:PL 1/1:0,49:50:99:1847,135,0
1 17250762 rs58609892 G C 262.67 PASS AB=0.474;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.122;DB;DP=19;Dels=0.0;FS=4.561;HRun=0;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=-0.367;QD=13.82;ReadPosRankSum=-0.531;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CROCC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375541 GT:AD:DP:GQ:PL 0/1:9,10:19:99:293,0,270
1 17250836 rs57174186 A G 276.09 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.567;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.4942;MQ=59.06;MQ0=0;MQRankSum=-0.113;QD=13.8;ReadPosRankSum=0.416;SNPEFF_AMINO_ACID_CHANGE=T42;SNPEFF_CODON_CHANGE=acA/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_17250820_17250974;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CROCC;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000445545 GT:AD:DP:GQ:PL 0/1:10,10:20:99:306,0,281
1 17250991 rs60275838 T C 49.42 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.061;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=58.33;MQ0=0;MQRankSum=-0.212;QD=3.53;ReadPosRankSum=-0.354;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CROCC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375541 GT:AD:DP:GQ:PL 0/1:10,4:14:79.42:79,0,288
1 17263214 rs145088791 C T 68.80 QDFilter2 AB=0.872;AC=1;AF=0.50;AN=2;BaseQRankSum=1.113;DB;DP=39;Dels=0.0;FS=2.496;HRun=0;HaplotypeScore=0.7887;MQ=58.81;MQ0=0;MQRankSum=-0.063;QD=1.76;ReadPosRankSum=0.273;SNPEFF_AMINO_ACID_CHANGE=R228W;SNPEFF_CODON_CHANGE=Cgg/Tgg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_17263132_17263368;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CROCC;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000445545 GT:AD:DP:GQ:PL 0/1:34,5:39:98.79:99,0,1036
1 17263557 rs9435713 G A 279.02 PASS AB=0.412;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.684;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.537;QD=16.41;ReadPosRankSum=0.049;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CROCC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375541 GT:AD:DP:GQ:PL 0/1:7,10:17:99:309,0,245
1 17264090 rs13373796 A G 146.17 PASS AB=0.8;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.59;DB;DP=45;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.6141;MQ=54.45;MQ0=0;MQRankSum=-3.084;QD=3.25;ReadPosRankSum=-1.775;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CROCC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375541 GT:AD:DP:GQ:PL 0/1:36,9:45:99:176,0,1210
1 17264296 rs9435792 G A 312.78 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.407;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.8;MQ0=0;MQRankSum=1.55;QD=14.22;ReadPosRankSum=0.692;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CROCC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375541 GT:AD:DP:GQ:PL 0/1:10,12:22:99:343,0,333
1 17264677 rs6586575 G C 53.22 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.61;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CROCC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375541 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
1 17265327 rs4269813 A G 135.05 PASS AB=0.684;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.545;DB;DP=19;Dels=0.0;FS=6.107;HRun=0;HaplotypeScore=0.9973;MQ=60.0;MQ0=0;MQRankSum=-0.047;QD=7.11;ReadPosRankSum=-1.545;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CROCC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375541 GT:AD:DP:GQ:PL 0/1:13,6:19:99:165,0,431
1 17265366 rs4269812 C G 206.74 PASS AB=0.758;AC=1;AF=0.50;AN=2;BaseQRankSum=1.023;DB;DP=33;Dels=0.0;FS=1.67;HRun=0;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=1.11;QD=6.26;ReadPosRankSum=2.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CROCC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375541 GT:AD:DP:GQ:PL 0/1:25,8:33:99:237,0,835
1 17271989 rs147139590 G A 258.78 MQFilter40 AB=0.686;AC=1;AF=0.50;AN=2;BaseQRankSum=1.622;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=33.21;MQ0=9;MQRankSum=1.622;QD=7.19;ReadPosRankSum=-0.753;SNPEFF_AMINO_ACID_CHANGE=R556H;SNPEFF_CODON_CHANGE=cGc/cAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_17271957_17272101;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CROCC;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000445545 GT:AD:DP:GQ:PL 0/1:24,11:36:99:289,0,220
1 17272037 rs142404824 G A 160.37 MQFilter40 AB=0.652;AC=1;AF=0.50;AN=2;BaseQRankSum=0.439;DB;DP=23;Dels=0.0;FS=5.119;HRun=0;HaplotypeScore=0.6651;MQ=36.16;MQ0=4;MQRankSum=0.244;QD=6.97;ReadPosRankSum=-0.732;SNPEFF_AMINO_ACID_CHANGE=R572H;SNPEFF_CODON_CHANGE=cGc/cAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_17271957_17272101;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CROCC;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000445545 GT:AD:DP:GQ:PL 0/1:15,8:23:99:190,0,232
1 17272980 rs140471996 T C 244.79 PASS AB=0.762;AC=1;AF=0.50;AN=2;BaseQRankSum=1.669;DB;DP=42;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.8305;MQ=59.86;MQ0=0;MQRankSum=-0.635;QD=5.83;ReadPosRankSum=1.078;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CROCC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000492631 GT:AD:DP:GQ:PL 0/1:32,10:42:99:275,0,979
1 17275072 rs6690301 A G 76.74 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=0.55;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.3;QD=10.96;ReadPosRankSum=-0.937;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CROCC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000492631 GT:AD:DP:GQ:PL 0/1:3,4:7:64.17:107,0,64
1 17280578 rs147342078 T C 240.26 MQFilter40 AB=0.435;AC=1;AF=0.50;AN=2;BaseQRankSum=0.465;DB;DP=62;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=14.14;MQ0=35;MQRankSum=1.779;QD=3.88;ReadPosRankSum=0.465;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CROCC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477773 GT:AD:DP:GQ:PL 0/1:27,35:62:64.65:270,0,65
1 17281003 rs2076606 T C 94.16 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.54;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CROCC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467880 GT:AD:DP:GQ:PL 1/1:0,4:4:12.02:127,12,0
1 17295679 rs4920574 T C 323.41 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.66;MQ0=0;QD=32.34;SNPEFF_AMINO_ACID_CHANGE=A1596;SNPEFF_CODON_CHANGE=gcT/gcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_17295611_17295835;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CROCC;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000445545 GT:AD:DP:GQ:PL 1/1:0,10:10:27.09:356,27,0
1 17297289 rs9435656 C T 376.84 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.99;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CROCC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465021 GT:AD:DP:GQ:PL 1/1:0,13:13:33.09:410,33,0
1 17301448 rs2235933 C T 73.21 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=24.4;MQ0=2;QD=14.64;SNPEFF_AMINO_ACID_CHANGE=A172;SNPEFF_CODON_CHANGE=gcG/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_17300997_17301518;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MFAP2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000375534 GT:AD:DP:GQ:PL 1/1:1,4:5:9.03:105,9,0
1 17301672 rs761423 T C 44.44 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=14.81;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CROCC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375541 GT:AD:DP:GQ:PL 0/1:1,2:3:32.20:74,0,32
1 17301780 rs761422 A G 46.86 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.479;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.05;MQ0=0;MQRankSum=1.109;QD=3.91;ReadPosRankSum=-2.034;SNPEFF_AMINO_ACID_CHANGE=H143;SNPEFF_CODON_CHANGE=caT/caC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_17301764_17301837;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MFAP2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000375534 GT:AD:DP:GQ:PL 0/1:9,3:12:76.86:77,0,295
1 17302835 rs115465875 G A 238.96 PASS AB=0.438;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.117;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.6208;MQ=60.0;MQ0=0;MQRankSum=-0.847;QD=14.93;ReadPosRankSum=-0.318;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CROCC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375541 GT:AD:DP:GQ:PL 0/1:7,9:16:99:269,0,242
1 17303589 rs2235932 C T 152.13 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=1.495;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.922;QD=21.73;ReadPosRankSum=1.495;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CROCC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375541 GT:AD:DP:GQ:PL 0/1:2,5:7:44.39:182,0,44
1 17312743 rs3170740 C T 84.56 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.922;DB;DP=10;Dels=0.0;FS=3.68;HRun=0;HaplotypeScore=0.9987;MQ=60.0;MQ0=0;MQRankSum=0.922;QD=8.46;ReadPosRankSum=-0.421;SNPEFF_AMINO_ACID_CHANGE=A1072T;SNPEFF_CODON_CHANGE=Gcc/Acc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_17312453_17312853;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP13A2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000341676 GT:AD:DP:GQ:PL 0/1:5,5:10:99:115,0,124
1 17313157 rs2076605 G A 146 PASS AB=0.143;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.742;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.742;QD=20.86;ReadPosRankSum=0.742;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP13A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000503552 GT:AD:DP:GQ:PL 0/1:1,6:7:20.18:176,0,20
1 17313283 rs56146840 C T 66.03 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=0.573;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.573;QD=6.6;ReadPosRankSum=-0.573;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP13A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000503552 GT:AD:DP:GQ:PL 0/1:7,3:10:96.02:96,0,203
1 17313343 rs9435659 G A 217.52 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=2.011;DB;DP=17;Dels=0.0;FS=5.497;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.376;QD=12.8;ReadPosRankSum=0.318;SNPEFF_AMINO_ACID_CHANGE=A1020;SNPEFF_CODON_CHANGE=gcC/gcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_17313300_17313451;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP13A2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000341676 GT:AD:DP:GQ:PL 0/1:8,9:17:99:248,0,176
1 17313517 rs55885047 G A 330 PASS AB=0.552;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.153;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.2;MQ0=0;MQRankSum=-0.11;QD=11.38;ReadPosRankSum=0.241;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP13A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000503552 GT:AD:DP:GQ:PL 0/1:16,13:29:99:360,0,410
1 17313654 rs761421 C T 204.35 PASS AB=0.438;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.827;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.55;MQ0=0;MQRankSum=0.53;QD=12.77;ReadPosRankSum=-0.295;SNPEFF_AMINO_ACID_CHANGE=V186;SNPEFF_CODON_CHANGE=gtG/gtA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_17313541_17313764;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP13A2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000502418 GT:AD:DP:GQ:PL 0/1:7,9:16:99:234,0,193
1 17314942 rs9435662 G A 830.60 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.367;DB;DP=64;Dels=0.0;FS=1.032;HRun=0;HaplotypeScore=0.0;MQ=59.64;MQ0=0;MQRankSum=1.321;QD=12.98;ReadPosRankSum=-1.57;SNPEFF_AMINO_ACID_CHANGE=G75;SNPEFF_CODON_CHANGE=ggC/ggT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_17314817_17314969;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP13A2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000502418 GT:AD:DP:GQ:PL 0/1:36,28:64:99:861,0,1033
1 17319011 rs2076603 G A 3233.06 PASS AC=2;AF=1.00;AN=2;DB;DP=110;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.37;MQ0=0;QD=29.39;SNPEFF_AMINO_ACID_CHANGE=P600;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_17318981_17319076;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP13A2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000341676 GT:AD:DP:GQ:PL 1/1:1,109:110:99:3268,250,0
1 17323449 rs9435736 T C 239.28 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.59;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP13A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000511957 GT:AD:DP:GQ:PL 1/1:0,9:9:21.07:272,21,0
1 17331676 rs3738814 A G 343.79 PASS AB=0.368;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.549;DB;DP=19;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.972;QD=18.09;ReadPosRankSum=-0.042;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP13A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326735 GT:AD:DP:GQ:PL 0/1:7,12:19:99:374,0,237
1 17355387 rs2746469 T C 238.07 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.01;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SDHB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466613 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:271,21,0
1 17359676 rs1022580 C A 735.20 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.01;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SDHB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375499 GT:AD:DP:GQ:PL 1/1:0,21:21:57.19:768,57,0
1 17371152 rs12073028 T C 325.10 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.12;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SDHB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375499 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:358,27,0
1 17371494 rs9435745 C T 42.86 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=14.29;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SDHB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375499 GT:AD:DP:GQ:PL 0/1:1,2:3:30.29:73,0,30
1 17380497 rs2746462 G T 118.45 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.69;SNPEFF_AMINO_ACID_CHANGE=A6;SNPEFF_CODON_CHANGE=gcC/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_17380443_17380665;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SDHB;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000375499 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:151,12,0
1 17395480 rs2076599 G A 346.47 PASS AB=0.607;AC=1;AF=0.50;AN=2;BaseQRankSum=2.443;DB;DP=28;Dels=0.0;FS=9.455;HRun=0;HaplotypeScore=0.0;MQ=58.33;MQ0=0;MQRankSum=1.554;QD=12.37;ReadPosRankSum=1.308;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466151 GT:AD:DP:GQ:PL 0/1:17,11:28:99:376,0,375
1 17395521 rs2076598 G A 495.47 PASS AB=0.514;AC=1;AF=0.50;AN=2;BaseQRankSum=1.337;DB;DP=37;Dels=0.0;FS=12.439;HRun=0;HaplotypeScore=0.734;MQ=58.11;MQ0=0;MQRankSum=-0.38;QD=13.39;ReadPosRankSum=-0.512;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466151 GT:AD:DP:GQ:PL 0/1:19,18:37:99:525,0,529
1 17396498 rs2076596 T C 33.19 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9332;MQ=60.0;MQ0=0;MQRankSum=-0.72;QD=5.53;ReadPosRankSum=-0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375486 GT:AD:DP:GQ:PL 0/1:4,2:6:63.18:63,0,148
1 17396703 rs2076595 T C 1048.75 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.634;DB;DP=74;Dels=0.0;FS=1.936;HRun=1;HaplotypeScore=1.399;MQ=60.0;MQ0=0;MQRankSum=-0.303;QD=14.17;ReadPosRankSum=0.16;SNPEFF_AMINO_ACID_CHANGE=L432;SNPEFF_CODON_CHANGE=ctA/ctG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_17396583_17396711;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000444885 GT:AD:DP:GQ:PL 0/1:37,37:74:99:1079,0,1157
1 17396876 rs2076594 C A 110.59 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=2.219;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.361;QD=12.29;ReadPosRankSum=0.361;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375486 GT:AD:DP:GQ:PL 0/1:5,4:9:99:141,0,100
1 17397704 rs2016693 A C 47.79 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.89;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375486 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
1 17398066 rs875219 G C 226.45 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.35;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375486 GT:AD:DP:GQ:PL 1/1:0,7:7:21.06:259,21,0
1 17398069 rs875218 T C 178.98 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.83;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375486 GT:AD:DP:GQ:PL 1/1:0,6:6:18.05:212,18,0
1 17401137 rs2295051 T C 52.84 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.61;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375481 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:84,6,0
1 17401283 rs3818041 C T 521.81 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.61;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375481 GT:AD:DP:GQ:PL 1/1:0,16:16:42.14:555,42,0
1 17402116 rs3818035 G T 1077.78 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=57.88;MQ0=0;QD=34.77;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375481 GT:AD:DP:GQ:PL 1/1:0,31:31:87.26:1111,87,0
1 17402135 rs3818034 T C 1784.16 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.26;MQ0=0;QD=34.98;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375481 GT:AD:DP:GQ:PL 1/1:0,51:51:99:1817,135,0
1 17402159 rs3818033 G A 2313.18 PASS AC=2;AF=1.00;AN=2;DB;DP=71;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=59.02;MQ0=0;QD=32.58;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375481 GT:AD:DP:GQ:PL 1/1:0,71:71:99:2346,178,0
1 17402255 rs3818032 C T 2742.67 PASS AC=2;AF=1.00;AN=2;DB;DP=82;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.44;MQ0=0;QD=33.45;SNPEFF_AMINO_ACID_CHANGE=A342;SNPEFF_CODON_CHANGE=gcG/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_17402174_17402318;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000444885 GT:AD:DP:GQ:PL 1/1:0,81:82:99:2776,211,0
1 17402347 rs2647205 C T 1683.43 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.14;MQ0=0;QD=31.17;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375481 GT:AD:DP:GQ:PL 1/1:0,54:54:99:1716,129,0
1 17402374 rs12732522 G C 535.47 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.567;DB;DP=36;Dels=0.0;FS=2.127;HRun=1;HaplotypeScore=0.0;MQ=58.71;MQ0=0;MQRankSum=0.257;QD=14.87;ReadPosRankSum=-0.257;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375481 GT:AD:DP:GQ:PL 0/1:15,21:36:99:565,0,525
1 17402418 rs3818031 A G 954.23 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.07;MQ0=0;QD=38.17;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375481 GT:AD:DP:GQ:PL 1/1:0,25:25:75.23:987,75,0
1 17405809 rs2057096 G A 2059.70 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.6988;MQ=59.33;MQ0=0;QD=33.22;SNPEFF_AMINO_ACID_CHANGE=N304;SNPEFF_CODON_CHANGE=aaC/aaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_17405759_17405910;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000444885 GT:AD:DP:GQ:PL 1/1:0,62:62:99:2093,159,0
1 17405916 rs2057095 C T 1381.55 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.0;MQ0=0;QD=32.89;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375481 GT:AD:DP:GQ:PL 1/1:0,42:42:99:1415,108,0
1 17405949 rs2057094 C T 640.99 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.99;MQ0=0;QD=27.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375481 GT:AD:DP:GQ:PL 1/1:0,23:23:51.16:674,51,0
1 17406015 rs2057093 C T 244.50 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.17;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375481 GT:AD:DP:GQ:PL 1/1:0,9:9:21.07:277,21,0
1 17406045 rs2057092 C T 165.67 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.13;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375481 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:198,15,0
1 17410364 rs1883913 G A 665.60 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.99;MQ0=0;QD=28.94;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375481 GT:AD:DP:GQ:PL 1/1:0,23:23:54.16:699,54,0
1 17418883 rs2647184 A G 1026.67 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.5774;MQ=58.59;MQ0=0;QD=31.11;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375481 GT:AD:DP:GQ:PL 1/1:0,33:33:81.24:1060,81,0
1 17418894 rs2273111 A G 1173 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=1.5774;MQ=58.63;MQ0=0;QD=34.5;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375481 GT:AD:DP:GQ:PL 1/1:0,34:34:93.30:1206,93,0
1 17419066 rs11203298 T C 404.40 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.7;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375481 GT:AD:DP:GQ:PL 1/1:0,12:12:33.11:437,33,0
1 17422192 rs2076610 G A 170.38 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.4;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375481 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:203,15,0
1 17422226 rs2076609 C T 342.10 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.01;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375481 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:375,27,0
1 17422302 rs2076608 T C 1325.05 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.16;MQ0=0;QD=34.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375481 GT:AD:DP:GQ:PL 1/1:0,38:38:99:1358,108,0
1 17422610 rs2235918 A G 260.07 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.01;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375481 GT:AD:DP:GQ:PL 1/1:0,10:10:27.06:293,27,0
1 17422660 rs2076607 C T 195.49 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375481 GT:AD:DP:GQ:PL 1/1:0,6:6:18.05:228,18,0
1 17431119 rs2746499 A G 35.63 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=29.0;MQ0=0;QD=11.88;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375481 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:67,6,0
1 17431277 rs6701159 G T 359.53 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.96;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375481 GT:AD:DP:GQ:PL 1/1:0,12:12:30.10:393,30,0
1 17431618 rs11203300 A G 418.63 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.75;MQ0=0;QD=27.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375481 GT:AD:DP:GQ:PL 1/1:0,15:15:33.11:452,33,0
1 17431681 rs2647172 C A 125.70 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.43;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375481 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:158,12,0
1 17520935 rs183737503 C T 49.41 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.7;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=RP11-380J14.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000412427 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
1 17521098 rs2454177 G C 121.82 PASS AB=0.143;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=17.4;ReadPosRankSum=-0.736;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=RP11-380J14.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000412427 GT:AD:DP:GQ:PL 0/1:1,6:7:27.18:152,0,27
1 17531938 rs74058960 G T 41.49 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.026;QD=10.37;ReadPosRankSum=1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375471 GT:AD:DP:GQ:PL 0/1:2,2:4:70.84:71,0,71
1 17548527 rs3003480 C T 33.09 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=11.03;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375471 GT:AD:DP:GQ:PL 1/1:0,3:3:6:64,6,0
1 17549180 rs72646750 G A 90.96 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375471 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:123,9,0
1 17550225 rs3003481 T C 148.84 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.77;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375471 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:182,15,0
1 17551034 rs2293915 A T 92.72 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375471 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:125,9,0
1 17552875 rs2977290 A G 32.66 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=16.33;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000483501 GT:AD:DP:GQ:PL 1/1:0,2:2:5.99:64,6,0
1 17555316 rs2977233 C G 535.67 PASS AB=0.465;AC=1;AF=0.50;AN=2;BaseQRankSum=0.67;DB;DP=43;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.329;QD=12.46;ReadPosRankSum=-1.303;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000483501 GT:AD:DP:GQ:PL 0/1:20,23:43:99:566,0,642
1 17555508 rs2977234 G T 82.05 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=51.77;MQ0=0;QD=27.35;SNPEFF_AMINO_ACID_CHANGE=T297;SNPEFF_CODON_CHANGE=acG/acT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_17555443_17555546;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000375471 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:114,9,0
1 17601419 rs2977297 C G 133.27 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=55.16;MQ0=0;QD=33.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375460 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:166,12,0
1 17609448 rs2293920 G T 288.96 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=1.107;DB;DP=17;Dels=0.0;FS=8.82;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.241;QD=17.0;ReadPosRankSum=0.722;SNPEFF_AMINO_ACID_CHANGE=P623;SNPEFF_CODON_CHANGE=ccG/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_17609341_17610728;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000375460 GT:AD:DP:GQ:PL 0/1:8,9:17:99:319,0,254
1 17657534 rs11203366 G A 660.15 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=0.981;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9559;MQ=59.44;MQ0=0;MQRankSum=-0.044;QD=16.1;ReadPosRankSum=-0.044;SNPEFF_AMINO_ACID_CHANGE=G55S;SNPEFF_CODON_CHANGE=Ggc/Agc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_17657464_17657644;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000358829 GT:AD:DP:GQ:PL 0/1:15,25:41:99:690,0,346
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1 17660499 rs874881 G C 610.35 PASS AB=0.343;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.311;DB;DP=35;Dels=0.0;FS=1.391;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.817;QD=17.44;ReadPosRankSum=-1.303;SNPEFF_AMINO_ACID_CHANGE=G112A;SNPEFF_CODON_CHANGE=gGg/gCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_17660438_17660504;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000358829 GT:AD:DP:GQ:PL 0/1:12,23:35:99:640,0,400
1 17660660 rs874882 G A 40.99 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=13.66;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358829 GT:AD:DP:GQ:PL 0/1:1,2:3:33.98:71,0,34
1 17661128 rs1555658 A C 178.68 PASS AB=0.647;AC=1;AF=0.50;AN=2;BaseQRankSum=1.859;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.251;QD=10.51;ReadPosRankSum=0.754;SNPEFF_AMINO_ACID_CHANGE=L214;SNPEFF_CODON_CHANGE=ctA/ctC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_17661117_17661291;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000358829 GT:AD:DP:GQ:PL 0/1:11,6:17:99:209,0,335
1 17662541 rs1748034 A C 89.01 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.67;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358829 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:121,9,0
1 17662639 rs2240340 T C 392.71 PASS AB=0.32;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.419;DB;DP=25;Dels=0.0;FS=8.846;HRun=1;HaplotypeScore=1.367;MQ=59.07;MQ0=0;MQRankSum=0.337;QD=15.71;ReadPosRankSum=-1.01;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358829 GT:AD:DP:GQ:PL 0/1:8,17:25:99:423,0,277
1 17662662 rs1748033 T C 474.19 PASS AB=0.292;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.826;DB;DP=24;Dels=0.0;FS=11.885;HRun=2;HaplotypeScore=0.5784;MQ=59.03;MQ0=0;MQRankSum=1.08;QD=19.76;ReadPosRankSum=0.0;SNPEFF_AMINO_ACID_CHANGE=L117;SNPEFF_CODON_CHANGE=Ttg/Ctg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_17662654_17662721;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000375448 GT:AD:DP:GQ:PL 0/1:7,17:24:99:504,0,221
1 17662751 rs1621005 C G 231.42 PASS AB=0.619;AC=1;AF=0.50;AN=2;BaseQRankSum=0.181;DB;DP=21;Dels=0.0;FS=2.172;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.412;QD=11.02;ReadPosRankSum=0.833;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358829 GT:AD:DP:GQ:PL 0/1:13,8:21:99:261,0,414
1 17662804 rs1748032 C T 93.43 PASS AB=0.692;AC=1;AF=0.50;AN=2;BaseQRankSum=0.077;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.54;QD=7.19;ReadPosRankSum=0.849;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358829 GT:AD:DP:GQ:PL 0/1:9,4:13:99:123,0,320
1 17664770 rs1635586 A G 129.02 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=2.267;DB;DP=14;Dels=0.0;FS=4.472;HRun=0;HaplotypeScore=0.9894;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=9.22;ReadPosRankSum=1.2;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358829 GT:AD:DP:GQ:PL 0/1:9,5:14:99:159,0,328
1 17664813 rs1635585 T G 36.75 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.937;DB;DP=8;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.754;QD=4.59;ReadPosRankSum=-1.754;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358829 GT:AD:DP:GQ:PL 0/1:4,4:8:66.74:67,0,126
1 17666095 rs1635578 T C 449.98 PASS AB=0.619;AC=1;AF=0.50;AN=2;BaseQRankSum=2.137;DB;DP=42;Dels=0.0;FS=1.789;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.635;QD=10.71;ReadPosRankSum=-0.142;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358829 GT:AD:DP:GQ:PL 0/1:26,16:42:99:480,0,774
1 17672730 rs2301888 G A 32.46 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=0.922;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.198;QD=4.64;ReadPosRankSum=0.922;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375448 GT:AD:DP:GQ:PL 0/1:5,2:7:62.45:62,0,178
1 17674402 rs2240336 C T 367.59 PASS AB=0.407;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.232;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.14;MQ0=0;MQRankSum=0.363;QD=13.61;ReadPosRankSum=0.363;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375448 GT:AD:DP:GQ:PL 0/1:11,16:27:99:398,0,374
1 17674537 rs2240335 C A 389.98 PASS AB=0.516;AC=1;AF=0.50;AN=2;BaseQRankSum=2.945;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.25;MQ0=0;MQRankSum=-0.138;QD=12.58;ReadPosRankSum=1.127;SNPEFF_AMINO_ACID_CHANGE=R383;SNPEFF_CODON_CHANGE=cgC/cgA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_17674436_17674543;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000375448 GT:AD:DP:GQ:PL 0/1:16,15:31:99:420,0,461
1 17681277 rs6683201 T C 198.17 PASS AB=0.143;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.742;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.742;QD=28.31;ReadPosRankSum=0.742;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375448 GT:AD:DP:GQ:PL 0/1:1,6:7:21.16:228,0,21
1 17681424 rs4920600 A G 44.35 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.18;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375448 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:76,6,0
1 17685718 . A C 108.51 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.106;DP=22;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=3.5191;MQ=41.46;MQ0=0;MQRankSum=-1.725;QD=4.93;ReadPosRankSum=1.444;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467001 GT:AD:DP:GQ:PL 0/1:12,10:22:99:138,0,191
1 17685724 . A C 36.60 QDFilter2 AB=0.52;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.604;DP=25;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=4.518;MQ=44.1;MQ0=0;MQRankSum=-3.234;QD=1.46;ReadPosRankSum=1.386;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PADI4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467001 GT:AD:DP:GQ:PL 0/1:13,12:25:66.59:67,0,212
1 17706607 rs61766771 C G 353.90 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=3.096;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8321;MQ=57.66;MQ0=0;MQRankSum=-0.454;QD=17.69;ReadPosRankSum=-0.206;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PADI6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358481 GT:AD:DP:GQ:PL 0/1:8,12:20:99:384,0,223
1 17707739 rs1204898 T C 65.10 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.406;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.988;QD=10.85;ReadPosRankSum=0.406;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PADI6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358481 GT:AD:DP:GQ:PL 0/1:3,3:6:95.09:95,0,102
1 17707798 rs10788668 C T 37.99 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=12.66;ReadPosRankSum=0.736;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PADI6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358481 GT:AD:DP:GQ:PL 0/1:1,2:3:33.20:68,0,33
1 17708349 rs7556072 G A 633.13 PASS AB=0.435;AC=1;AF=0.50;AN=2;BaseQRankSum=1.651;DB;DP=46;Dels=0.0;FS=3.617;HRun=1;HaplotypeScore=0.9987;MQ=60.0;MQ0=0;MQRankSum=0.609;QD=13.76;ReadPosRankSum=0.078;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PADI6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358481 GT:AD:DP:GQ:PL 0/1:20,26:46:99:663,0,643
1 17720391 rs6678552 G A 656.87 PASS AB=0.42;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.741;DB;DP=50;Dels=0.0;FS=1.424;HRun=0;HaplotypeScore=0.0;MQ=59.54;MQ0=0;MQRankSum=1.518;QD=13.14;ReadPosRankSum=-0.611;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PADI6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358481 GT:AD:DP:GQ:PL 0/1:21,29:50:99:687,0,656
1 17720439 rs6695849 T C 1165.19 PASS AB=0.476;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.331;DB;DP=82;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9665;MQ=58.92;MQ0=0;MQRankSum=0.344;QD=14.21;ReadPosRankSum=0.78;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PADI6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358481 GT:AD:DP:GQ:PL 0/1:39,43:82:99:1195,0,1261
1 17720615 rs10458537 A C 917.52 PASS AB=0.397;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.089;DB;DP=58;Dels=0.0;FS=4.865;HRun=2;HaplotypeScore=3.5043;MQ=59.07;MQ0=0;MQRankSum=0.626;QD=15.82;ReadPosRankSum=1.684;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PADI6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358481 GT:AD:DP:GQ:PL 0/1:23,35:58:99:948,0,718
1 17720686 rs34075690 AG A 316.27 PASS AB=0.731;AC=1;AF=0.50;AN=2;BaseQRankSum=3.324;DB;DP=38;FS=1.419;HRun=6;HaplotypeScore=131.8766;IndelType=D;MQ=59.19;MQ0=0;MQRankSum=0.095;QD=8.32;ReadPosRankSum=0.475;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PADI6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358481 GT:AD:DP:GQ:PL 0/1:24,14:38:99:355,0,614
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1 17721388 rs6691485 C T 161.44 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.52;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=48.43;MQ0=0;MQRankSum=2.037;QD=14.68;ReadPosRankSum=0.0;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PADI6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358481 GT:AD:DP:GQ:PL 0/1:4,7:11:99:191,0,104
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1 17721721 rs147310450 TGA T 235.73 PASS AB=0.789;AC=1;AF=0.50;AN=2;BaseQRankSum=1.969;DB;DP=30;FS=0.0;HRun=0;HaplotypeScore=209.4782;IndelType=D;MQ=48.54;MQ0=0;MQRankSum=-2.421;QD=7.86;ReadPosRankSum=1.259;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PADI6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358481 GT:AD:DP:GQ:PL 0/1:22,8:30:99:275,0,701
1 17721844 rs2800692 A C 49.99 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=51.77;MQ0=0;QD=16.66;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PADI6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358481 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:81,6,0
1 17722363 rs7538876 G A 73.74 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.537;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=12.29;ReadPosRankSum=-0.988;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PADI6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358481 GT:AD:DP:GQ:PL 0/1:3,3:6:99:104,0,109
1 17723476 rs61476146 C CCA 301.42 PASS AB=0.611;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.034;DB;DP=11;FS=0.0;HRun=0;HaplotypeScore=31.6772;IndelType=I;MQ=60.98;MQ0=0;MQRankSum=0.678;QD=27.4;ReadPosRankSum=-0.278;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PADI6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358481 GT:AD:DP:GQ:PL 0/1:4,7:11:99:340,0,132
1 17723739 rs12129196 G A 181.76 PASS AB=0.222;AC=1;AF=0.50;AN=2;BaseQRankSum=0.067;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.666;QD=20.2;ReadPosRankSum=0.067;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PADI6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358481 GT:AD:DP:GQ:PL 0/1:2,7:9:58.39:212,0,58
1 17725358 rs57383037 C G 839.18 PASS AB=0.446;AC=1;AF=0.50;AN=2;BaseQRankSum=3.906;DB;DP=56;Dels=0.0;FS=10.2;HRun=1;HaplotypeScore=0.9867;MQ=58.42;MQ0=0;MQRankSum=0.346;QD=14.99;ReadPosRankSum=-0.396;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PADI6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358481 GT:AD:DP:GQ:PL 0/1:25,31:56:99:869,0,637
1 17736578 rs2762890 A G 174.66 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.0;DB;DP=12;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.38;QD=14.56;ReadPosRankSum=-0.244;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RCC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375433 GT:AD:DP:GQ:PL 0/1:5,7:12:99:205,0,178
1 17739586 rs942457 G A 300.08 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.908;DB;DP=30;Dels=0.0;FS=3.352;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.155;QD=10.0;ReadPosRankSum=0.288;SNPEFF_AMINO_ACID_CHANGE=I432;SNPEFF_CODON_CHANGE=atC/atT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_17739569_17739674;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RCC2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000375433 GT:AD:DP:GQ:PL 0/1:18,12:30:99:330,0,543
1 17749459 rs5772758 C CCAA 291.85 PASS AC=2;AF=1.00;AN=2;DB;DP=8;FS=0.0;HRun=0;HaplotypeScore=23.0113;IndelType=I;MQ=53.76;MQ0=0;QD=36.48;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RCC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375433 GT:AD:DP:GQ:PL 1/1:2,6:8:18.06:334,18,0
1 17752000 rs1324368 A G 88.74 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.3;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.55;QD=11.09;ReadPosRankSum=0.937;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RCC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375433 GT:AD:DP:GQ:PL 0/1:3,5:8:98.06:119,0,98
1 17914122 rs35497285 G A 1559.84 PASS AB=0.48;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.048;DB;DP=98;Dels=0.0;FS=1.931;HRun=1;HaplotypeScore=1.7825;MQ=59.76;MQ0=0;MQRankSum=-0.969;QD=15.92;ReadPosRankSum=0.815;SNPEFF_AMINO_ACID_CHANGE=D69N;SNPEFF_CODON_CHANGE=Gac/Aac;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_17913955_17914140;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF10L;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000361221 GT:AD:DP:GQ:PL 0/1:47,51:98:99:1590,0,1402
1 17914846 rs1193343 C T 58.48 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.573;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.248;QD=5.85;ReadPosRankSum=-0.573;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF10L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361221 GT:AD:DP:GQ:PL 0/1:7,3:10:88.47:88,0,210
1 17929980 rs1193338 C G 271.16 PASS AB=0.474;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.837;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=0.204;QD=13.56;ReadPosRankSum=-1.021;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF10L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361221 GT:AD:DP:GQ:PL 0/1:9,10:20:99:301,0,311
1 17960812 rs2354289 T C 123.73 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.93;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF10L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000167825 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:156,12,0
1 17961345 rs34725104 C T 411.86 PASS AB=0.176;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.827;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.575;QD=24.23;ReadPosRankSum=0.693;SNPEFF_AMINO_ACID_CHANGE=I290;SNPEFF_CODON_CHANGE=atC/atT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_17961330_17961511;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF10L;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000167825 GT:AD:DP:GQ:PL 0/1:3,14:17:81.38:442,0,81
1 17966846 rs61764910 G A 78.36 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.72;QD=13.06;ReadPosRankSum=-0.72;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF10L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375420 GT:AD:DP:GQ:PL 0/1:2,4:6:56.03:108,0,56
1 17991052 rs6695710 T C 373.66 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=56.85;MQ0=0;QD=24.91;SNPEFF_AMINO_ACID_CHANGE=W694R;SNPEFF_CODON_CHANGE=Tgg/Cgg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_17990942_17991090;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF10L;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000167825 GT:AD:DP:GQ:PL 1/1:0,15:15:33.10:407,33,0
1 18021406 rs905389 T C 92.07 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.69;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF10L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000434513 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:124,9,0
1 18021867 rs2279816 T C 155.32 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.06;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF10L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000434513 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:188,15,0
1 18023261 rs61764942 G A 221.76 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.278;DB;DP=11;Dels=0.0;FS=4.393;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.678;QD=20.16;ReadPosRankSum=-0.278;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF10L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000167825 GT:AD:DP:GQ:PL 0/1:4,7:11:97.32:252,0,97
1 18023290 rs2270979 C T 529.99 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.12;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF10L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000167825 GT:AD:DP:GQ:PL 1/1:0,16:16:42.14:563,42,0
1 18023365 rs2270978 C T 840.09 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.6;SNPEFF_AMINO_ACID_CHANGE=N1071;SNPEFF_CODON_CHANGE=aaC/aaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_18023343_18024144;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF10L;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000375415 GT:AD:DP:GQ:PL 1/1:0,25:25:63.21:873,63,0
1 18023509 rs2270977 T C 402.33 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.58;SNPEFF_AMINO_ACID_CHANGE=D1119;SNPEFF_CODON_CHANGE=gaT/gaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_18023343_18024144;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF10L;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000375415 GT:AD:DP:GQ:PL 1/1:0,11:11:33.11:435,33,0
1 18023690 rs2270976 A G 356.38 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.46;SNPEFF_AMINO_ACID_CHANGE=I1180V;SNPEFF_CODON_CHANGE=Atc/Gtc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_18023343_18024144;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF10L;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000375415 GT:AD:DP:GQ:PL 1/1:0,14:14:33.09:389,33,0
1 18023997 rs11415130 G GC 183.17 PASS AC=2;AF=1.00;AN=2;DB;DP=5;FS=0.0;HRun=1;HaplotypeScore=9.1261;IndelType=I;MQ=60.0;MQ0=0;QD=36.63;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF10L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000457829 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:225,15,0
1 18554670 rs3738088 G T 42.72 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IGSF21;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000251296 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:74,6,0
1 18691614 rs12079178 T C 367.60 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.29;MQ0=0;QD=33.42;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IGSF21;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000251296 GT:AD:DP:GQ:PL 1/1:0,11:11:30.10:401,30,0
1 18691665 rs41300138 G T 892.10 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.17;MQ0=0;QD=31.86;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IGSF21;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000251296 GT:AD:DP:GQ:PL 1/1:0,28:28:72.23:925,72,0
1 18702988 rs10796450 T C 559.23 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;QD=24.31;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IGSF21;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000251296 GT:AD:DP:GQ:PL 1/1:0,23:23:57.11:592,57,0
1 18703186 rs12127611 G A 170.17 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.03;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IGSF21;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000251296 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:203,15,0
1 18703208 rs10796451 C G 384.07 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.92;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IGSF21;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000251296 GT:AD:DP:GQ:PL 1/1:0,11:11:33.10:417,33,0
1 18703544 rs10465915 G A 141.52 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.62;MQ0=0;QD=20.22;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IGSF21;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473951 GT:AD:DP:GQ:PL 1/1:0,6:7:15.02:174,15,0
1 18703672 rs2271861 G A 245.02 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.05;MQ0=0;QD=30.63;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IGSF21;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473951 GT:AD:DP:GQ:PL 1/1:0,8:8:21.07:278,21,0
1 18704862 rs1043459 A G 211.66 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.62;MQ0=0;QD=30.24;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IGSF21;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473951 GT:AD:DP:GQ:PL 1/1:0,7:7:18.06:245,18,0
1 18704877 rs140452725 T G 154.49 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.922;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.62;MQ0=0;MQRankSum=0.198;QD=22.07;ReadPosRankSum=0.922;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IGSF21;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473951 GT:AD:DP:GQ:PL 0/1:2,5:7:24.17:184,0,24
1 18807339 rs2992756 T C 109.11 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.198;DB;DP=7;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.495;QD=15.59;ReadPosRankSum=0.198;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KLHDC7A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000400664 GT:AD:DP:GQ:PL 0/1:2,5:7:66.35:139,0,66
1 18807897 rs2992755 C G 363.89 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.092;DB;DP=28;Dels=0.0;FS=3.565;HRun=0;HaplotypeScore=0.0;MQ=59.17;MQ0=0;MQRankSum=-1.674;QD=13.0;ReadPosRankSum=-1.917;SNPEFF_AMINO_ACID_CHANGE=P141R;SNPEFF_CODON_CHANGE=cCc/cGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_18807424_18812478;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KLHDC7A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000400664 GT:AD:DP:GQ:PL 0/1:14,14:28:99:394,0,409
1 18807953 rs11261022 C A 357.82 PASS AB=0.531;AC=1;AF=0.50;AN=2;BaseQRankSum=0.566;DB;DP=32;Dels=0.0;FS=1.468;HRun=0;HaplotypeScore=1.4105;MQ=58.55;MQ0=0;MQRankSum=0.227;QD=11.18;ReadPosRankSum=-1.397;SNPEFF_AMINO_ACID_CHANGE=R160S;SNPEFF_CODON_CHANGE=Cgc/Agc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_18807424_18812478;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KLHDC7A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000400664 GT:AD:DP:GQ:PL 0/1:17,15:32:99:388,0,453
1 18808292 rs2992753 C A 1024.93 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.351;DB;DP=72;Dels=0.0;FS=14.791;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.305;QD=14.24;ReadPosRankSum=0.604;SNPEFF_AMINO_ACID_CHANGE=H210N;SNPEFF_CODON_CHANGE=Cat/Aat;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_18807665_18809706;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KLHDC7A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000540290 GT:AD:DP:GQ:PL 0/1:36,36:72:99:1055,0,995
1 18808465 rs3007718 T A 148.52 PASS AB=0.368;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.222;DB;DP=19;Dels=0.0;FS=9.89;HRun=0;HaplotypeScore=0.0;MQ=57.53;MQ0=0;MQRankSum=0.225;QD=7.82;ReadPosRankSum=-0.225;SNPEFF_AMINO_ACID_CHANGE=A267;SNPEFF_CODON_CHANGE=gcT/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_18807665_18809706;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KLHDC7A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000540290 GT:AD:DP:GQ:PL 0/1:7,12:19:99:179,0,203
1 18808526 rs2992752 A C 174.61 PASS AB=0.588;AC=1;AF=0.50;AN=2;BaseQRankSum=2.196;DB;DP=17;Dels=0.0;FS=7.911;HRun=1;HaplotypeScore=0.0;MQ=58.63;MQ0=0;MQRankSum=0.537;QD=10.27;ReadPosRankSum=1.025;SNPEFF_AMINO_ACID_CHANGE=T288P;SNPEFF_CODON_CHANGE=Aca/Cca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_18807665_18809706;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KLHDC7A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000540290 GT:AD:DP:GQ:PL 0/1:10,7:17:99:205,0,320
1 19027239 rs2743201 A G 267.89 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=2.299;DB;DP=24;Dels=0.0;FS=2.197;HRun=0;HaplotypeScore=0.0;MQ=59.22;MQ0=0;MQRankSum=0.346;QD=11.16;ReadPosRankSum=-0.535;SNPEFF_AMINO_ACID_CHANGE=P291;SNPEFF_CODON_CHANGE=ccA/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_19027147_19027312;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PAX7;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000400661 GT:AD:DP:GQ:PL 0/1:14,10:24:99:298,0,350
1 19166294 rs12033832 G A 953.51 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.05;SNPEFF_AMINO_ACID_CHANGE=S773;SNPEFF_CODON_CHANGE=tcC/tcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_19166093_19167021;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAS1R2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000375371 GT:AD:DP:GQ:PL 1/1:0,27:28:72.23:987,72,0
1 19168533 rs12082240 C T 120.22 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.05;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAS1R2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375371 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:153,12,0
1 19181015 rs34447754 G C 682.74 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.84;MQ0=0;QD=34.14;SNPEFF_AMINO_ACID_CHANGE=R317G;SNPEFF_CODON_CHANGE=Cgc/Ggc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_19180707_19181480;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAS1R2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000375371 GT:AD:DP:GQ:PL 1/1:0,20:20:54.18:716,54,0
1 19181082 rs28470550 A C 660.26 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.15;MQ0=0;QD=30.01;SNPEFF_AMINO_ACID_CHANGE=T294;SNPEFF_CODON_CHANGE=acT/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_19180707_19181480;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAS1R2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000375371 GT:AD:DP:GQ:PL 1/1:0,22:22:54.17:693,54,0
1 19181393 rs35874116 T C 600.89 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.38;SNPEFF_AMINO_ACID_CHANGE=I191V;SNPEFF_CODON_CHANGE=Atc/Gtc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_19180707_19181480;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAS1R2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000375371 GT:AD:DP:GQ:PL 1/1:0,18:18:48.15:634,48,0
1 19184077 rs68081213 A G 885.46 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.79;SNPEFF_AMINO_ACID_CHANGE=F77;SNPEFF_CODON_CHANGE=ttT/ttC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_19183825_19184125;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAS1R2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000375371 GT:AD:DP:GQ:PL 1/1:0,27:27:72.23:918,72,0
1 19184176 rs72953138 G A 302.15 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=57.87;MQ0=0;QD=27.47;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAS1R2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375371 GT:AD:DP:GQ:PL 1/1:0,11:11:27.08:335,27,0
1 19186129 rs9701796 G C 1302.87 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.5;MQ0=0;QD=35.21;SNPEFF_AMINO_ACID_CHANGE=S9C;SNPEFF_CODON_CHANGE=tCc/tGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_19185973_19186176;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAS1R2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000375371 GT:AD:DP:GQ:PL 1/1:0,37:37:99:1336,102,0
1 19199487 rs35255325 A G 908.71 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.66;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALDH4A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000290597 GT:AD:DP:GQ:PL 1/1:0,27:27:69.22:942,69,0
1 19200895 rs35657817 C T 2139.83 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.24;MQ0=0;QD=35.08;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALDH4A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000290597 GT:AD:DP:GQ:PL 1/1:0,61:61:99:2173,160,0
1 19201184 rs6665917 G C 269 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.42;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALDH4A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000290597 GT:AD:DP:GQ:PL 1/1:0,12:12:27.07:302,27,0
1 19201211 rs35163726 T TG 228.08 PASS AC=2;AF=1.00;AN=2;DB;DP=7;FS=0.0;HRun=1;HaplotypeScore=26.579;IndelType=I;MQ=60.0;MQ0=0;QD=32.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALDH4A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000290597 GT:AD:DP:GQ:PL 1/1:1,6:7:18.06:270,18,0
1 19201956 rs2230708 A G 1688.52 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9832;MQ=58.73;MQ0=0;QD=30.7;SNPEFF_AMINO_ACID_CHANGE=D400;SNPEFF_CODON_CHANGE=gaT/gaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_19201876_19201997;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALDH4A1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000538309 GT:AD:DP:GQ:PL 1/1:0,55:55:99:1722,135,0
1 19202770 rs7550822 T C 2020.31 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.76;MQ0=0;QD=33.67;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALDH4A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000290597 GT:AD:DP:GQ:PL 1/1:0,60:60:99:2053,156,0
1 19202896 rs2230707 G A 635.45 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=54.79;MQ0=0;QD=26.48;SNPEFF_AMINO_ACID_CHANGE=A357;SNPEFF_CODON_CHANGE=gcC/gcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_19202809_19202961;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALDH4A1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000538309 GT:AD:DP:GQ:PL 1/1:0,24:24:54.13:668,54,0
1 19202917 rs7550938 T C 337.04 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.399;MQ=54.68;MQ0=0;QD=17.74;SNPEFF_AMINO_ACID_CHANGE=S350;SNPEFF_CODON_CHANGE=tcA/tcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_19202809_19202961;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALDH4A1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000538309 GT:AD:DP:GQ:PL 1/1:0,19:19:38.99:370,39,0
1 19202926 rs2230706 T C 234.29 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.25;MQ0=0;QD=14.64;SNPEFF_AMINO_ACID_CHANGE=A347;SNPEFF_CODON_CHANGE=gcA/gcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_19202809_19202961;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALDH4A1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000538309 GT:AD:DP:GQ:PL 1/1:1,15:16:29.98:267,30,0
1 19203997 rs2230705 C G 506.63 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.78;SNPEFF_AMINO_ACID_CHANGE=A290;SNPEFF_CODON_CHANGE=gcG/gcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_19203910_19204106;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALDH4A1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000538309 GT:AD:DP:GQ:PL 1/1:0,15:15:42.12:540,42,0
1 19204154 rs6426813 G A 213.36 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=0.278;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.597;QD=19.4;ReadPosRankSum=0.278;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALDH4A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375334 GT:AD:DP:GQ:PL 0/1:4,7:11:99:243,0,130
1 19204173 rs6426814 A G 236.09 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.73;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALDH4A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375334 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:269,21,0
1 19208145 rs112548638 G GGGTTGCCT 3027.90 PASS AC=2;AF=1.00;AN=2;DB;DP=27;FS=0.0;HRun=0;HaplotypeScore=140.8904;IndelType=I;MQ=35.96;MQ0=0;QD=112.14;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALDH4A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375334 GT:AD:DP:GQ:PL 1/1:5,15:27:78.26:3070,78,0
1 19208944 rs28566028 A G 1323.15 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.97;MQ0=0;QD=29.4;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALDH4A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375334 GT:AD:DP:GQ:PL 1/1:0,45:45:99:1356,117,0
1 19209543 rs6426611 A G 259.63 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.64;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALDH4A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000432718 GT:AD:DP:GQ:PL 1/1:0,12:12:27.05:293,27,0
1 19238001 . TTTTATTTA T 347.46 PASS AB=0.85;AC=1;AF=0.50;AN=2;BaseQRankSum=2.383;DP=34;FS=0.0;HRun=0;HaplotypeScore=245.438;IndelType=D;MQ=56.31;MQ0=0;MQRankSum=-1.568;QD=10.22;ReadPosRankSum=-1.866;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IFFO2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304963 GT:AD:DP:GQ:PL 0/1:28,6:34:99:386,0,312
1 19243589 rs3748586 A G 352.97 PASS AB=0.595;AC=1;AF=0.50;AN=2;BaseQRankSum=0.763;DB;DP=37;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=4.2736;MQ=59.75;MQ0=0;MQRankSum=-0.925;QD=9.54;ReadPosRankSum=1.509;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IFFO2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304963 GT:AD:DP:GQ:PL 0/1:22,15:37:99:383,0,749
1 19401405 rs2281748 G A 87.74 PASS AB=0.706;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.264;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.896;QD=5.16;ReadPosRankSum=-0.474;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBR4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375217 GT:AD:DP:GQ:PL 0/1:12,5:17:99:118,0,338
1 19411129 rs1043905 A G 354 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.579;DB;DP=20;Dels=0.0;FS=4.481;HRun=0;HaplotypeScore=0.0;MQ=59.06;MQ0=0;MQRankSum=0.27;QD=17.7;ReadPosRankSum=-0.964;SNPEFF_AMINO_ACID_CHANGE=H482;SNPEFF_CODON_CHANGE=caT/caC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_19410998_19411192;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBR4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000429347 GT:AD:DP:GQ:PL 0/1:8,12:20:99:384,0,269
1 19412464 rs2274009 C T 42.84 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=47.12;MQ0=0;QD=21.42;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBR4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375217 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:74,6,0
1 19413261 rs12584 T A 563.43 PASS AB=0.587;AC=1;AF=0.50;AN=2;BaseQRankSum=0.692;DB;DP=46;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.402;QD=12.25;ReadPosRankSum=1.361;SNPEFF_AMINO_ACID_CHANGE=M390L;SNPEFF_CODON_CHANGE=Atg/Ttg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_19413173_19413315;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBR4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000429347 GT:AD:DP:GQ:PL 0/1:27,19:46:99:593,0,751
1 19413420 rs2274008 T G 49.71 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.895;DB;DP=10;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.734;MQ=58.11;MQ0=0;MQRankSum=-0.296;QD=4.97;ReadPosRankSum=-0.296;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBR4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375217 GT:AD:DP:GQ:PL 0/1:7,3:10:79.70:80,0,264
1 19415304 rs1043899 C T 396.44 PASS AB=0.628;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.068;DB;DP=43;Dels=0.0;FS=1.209;HRun=2;HaplotypeScore=0.0;MQ=59.57;MQ0=0;MQRankSum=-1.294;QD=9.22;ReadPosRankSum=0.741;SNPEFF_AMINO_ACID_CHANGE=K316;SNPEFF_CODON_CHANGE=aaG/aaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_19415253_19415471;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBR4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000429347 GT:AD:DP:GQ:PL 0/1:27,16:43:99:426,0,779
1 19420392 rs1106839 G A 129.96 PASS AB=0.722;AC=1;AF=0.50;AN=2;BaseQRankSum=1.183;DB;DP=18;Dels=0.0;FS=5.563;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.69;QD=7.22;ReadPosRankSum=1.479;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBR4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467272 GT:AD:DP:GQ:PL 0/1:13,5:18:99:160,0,375
1 19423565 rs2296105 T C 43.22 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9973;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=14.41;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBR4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375217 GT:AD:DP:GQ:PL 0/1:1,2:3:32.20:73,0,32
1 19426199 rs2236377 G A 245.02 PASS AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.266;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.857;QD=12.9;ReadPosRankSum=0.286;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBR4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375217 GT:AD:DP:GQ:PL 0/1:10,9:19:99:275,0,293
1 19431861 rs942180 T C 51.16 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.58;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBR4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000494503 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
1 19433449 rs6426677 A G 344.88 PASS AB=0.542;AC=1;AF=0.50;AN=2;BaseQRankSum=0.523;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.339;QD=14.37;ReadPosRankSum=0.708;SNPEFF_AMINO_ACID_CHANGE=V4015;SNPEFF_CODON_CHANGE=gtT/gtC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_19433331_19433460;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBR4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000375226 GT:AD:DP:GQ:PL 0/1:13,11:24:99:375,0,387
1 19440107 rs9661719 A G 918.12 PASS AB=0.475;AC=1;AF=0.50;AN=2;BaseQRankSum=1.419;DB;DP=59;Dels=0.0;FS=1.314;HRun=1;HaplotypeScore=1.7074;MQ=59.29;MQ0=0;MQRankSum=0.751;QD=15.56;ReadPosRankSum=-0.372;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBR4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375217 GT:AD:DP:GQ:PL 0/1:28,31:59:99:948,0,759
1 19441212 rs2274003 A G 458.82 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.495;DB;DP=34;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.27;QD=13.49;ReadPosRankSum=0.919;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBR4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375217 GT:AD:DP:GQ:PL 0/1:17,17:34:99:489,0,578
1 19441594 rs56030256 C G 138.66 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=1.307;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.361;QD=15.41;ReadPosRankSum=0.361;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBR4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375217 GT:AD:DP:GQ:PL 0/1:4,5:9:99:169,0,132
1 19444552 rs17392444 G A 50.05 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.02;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBR4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000417040 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
1 19446388 rs2296104 T C 48.72 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=51.77;MQ0=0;QD=16.24;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBR4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000417040 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:80,6,0
1 19447498 rs6426678 T C 163 PASS AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=27.17;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBR4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000417040 GT:AD:DP:GQ:PL 0/1:1,5:6:24.59:193,0,25
1 19447752 rs78347051 G T 43.68 QDFilter2 AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.172;DB;DP=42;Dels=0.0;FS=54.893;HRun=2;HaplotypeScore=1.9652;MQ=53.31;MQ0=0;MQRankSum=-1.323;QD=1.02;ReadPosRankSum=-0.651;SNPEFF_AMINO_ACID_CHANGE=Q2044K;SNPEFF_CODON_CHANGE=Caa/Aaa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_19447707_19447928;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBR4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000417040 GT:AD:DP:GQ:PL 0/1:27,15:42:73.68:74,0,863
1 19447819 rs35802543 T C 429.64 PASS AB=0.452;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.016;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=53.9;MQ0=0;MQRankSum=-0.187;QD=13.86;ReadPosRankSum=-0.104;SNPEFF_AMINO_ACID_CHANGE=A2021;SNPEFF_CODON_CHANGE=gcA/gcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_19447707_19447928;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBR4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000417040 GT:AD:DP:GQ:PL 0/1:14,17:31:99:460,0,451
1 19447843 rs1044010 C G 618.54 PASS AB=0.436;AC=1;AF=0.50;AN=2;BaseQRankSum=2.407;DB;DP=39;Dels=0.0;FS=1.328;HRun=0;HaplotypeScore=0.0;MQ=55.72;MQ0=0;MQRankSum=0.77;QD=15.86;ReadPosRankSum=0.706;SNPEFF_AMINO_ACID_CHANGE=L2013;SNPEFF_CODON_CHANGE=ctG/ctC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_19447707_19447928;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBR4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000417040 GT:AD:DP:GQ:PL 0/1:17,22:39:99:649,0,373
1 19448608 rs7535738 C G 180.86 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=2.281;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.369;QD=13.91;ReadPosRankSum=0.66;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBR4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475973 GT:AD:DP:GQ:PL 0/1:7,6:13:99:211,0,231
1 19450938 rs6681943 G A 114.81 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=0.387;DB;DP=11;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.387;QD=10.44;ReadPosRankSum=1.749;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBR4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475973 GT:AD:DP:GQ:PL 0/1:6,5:11:99:145,0,207
1 19464773 rs2274001 C T 347.34 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.816;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.039;QD=17.37;ReadPosRankSum=-0.27;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBR4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375217 GT:AD:DP:GQ:PL 0/1:8,12:20:99:377,0,271
1 19474975 rs2296108 T G 911.74 PASS AB=0.475;AC=1;AF=0.50;AN=2;BaseQRankSum=0.296;DB;DP=61;Dels=0.0;FS=3.323;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.365;QD=14.95;ReadPosRankSum=-0.44;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBR4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000419533 GT:AD:DP:GQ:PL 0/1:29,32:61:99:942,0,926
1 19483209 rs10799710 A G 859.51 PASS AB=0.548;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.662;DB;DP=73;Dels=0.0;FS=5.246;HRun=0;HaplotypeScore=0.9578;MQ=60.0;MQ0=0;MQRankSum=0.825;QD=11.77;ReadPosRankSum=-1.322;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBR4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375217 GT:AD:DP:GQ:PL 0/1:40,33:73:99:890,0,1201
1 19486839 rs946419 T C 64.40 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.21;MQ0=0;MQRankSum=0.731;QD=12.88;ReadPosRankSum=0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBR4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375217 GT:AD:DP:GQ:PL 0/1:1,4:5:25.76:94,0,26
1 19487656 rs3748759 T C 211.96 PASS AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.899;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.122;QD=11.16;ReadPosRankSum=-0.449;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBR4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375217 GT:AD:DP:GQ:PL 0/1:10,9:19:99:242,0,321
1 19488493 rs3748758 A C 248.75 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=1.239;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9867;MQ=60.0;MQ0=0;MQRankSum=-0.825;QD=20.73;ReadPosRankSum=-0.536;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBR4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375217 GT:AD:DP:GQ:PL 0/1:4,8:12:99:279,0,119
1 19488839 rs1999967 C A 293.44 PASS AB=0.621;AC=1;AF=0.50;AN=2;BaseQRankSum=2.27;DB;DP=29;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.8667;MQ=59.2;MQ0=0;MQRankSum=-0.292;QD=10.12;ReadPosRankSum=1.236;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBR4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375217 GT:AD:DP:GQ:PL 0/1:18,11:29:99:323,0,616
1 19489275 rs10799715 G A 32.22 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=10.74;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBR4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375217 GT:AD:DP:GQ:PL 0/1:1,2:3:33.21:62,0,33
1 19491514 rs12133185 G C 244.46 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.912;DB;DP=25;Dels=0.0;FS=4.224;HRun=0;HaplotypeScore=0.0;MQ=59.07;MQ0=0;MQRankSum=1.082;QD=9.78;ReadPosRankSum=1.082;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBR4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375217 GT:AD:DP:GQ:PL 0/1:15,10:25:99:274,0,502
1 19491857 rs3748757 T C 1695.68 PASS AB=0.496;AC=1;AF=0.50;AN=2;BaseQRankSum=-6.829;DB;DP=133;Dels=0.0;FS=10.836;HRun=0;HaplotypeScore=0.7887;MQ=59.86;MQ0=0;MQRankSum=-0.029;QD=12.75;ReadPosRankSum=-0.101;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBR4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375217 GT:AD:DP:GQ:PL 0/1:66,67:133:99:1726,0,1974
1 19493394 rs11379504 T TA 217.60 PASS AB=0.677;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.274;DB;DP=21;FS=0.0;HRun=10;HaplotypeScore=43.2752;IndelType=I;MQ=61.02;MQ0=0;MQRankSum=1.091;QD=10.36;ReadPosRankSum=0.106;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBR4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375217 GT:AD:DP:GQ:PL 0/1:11,10:21:99:257,0,208
1 19499835 rs951908 G C 354.04 PASS AB=0.552;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.348;DB;DP=29;Dels=0.0;FS=1.631;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.162;QD=12.21;ReadPosRankSum=1.137;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBR4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375217 GT:AD:DP:GQ:PL 0/1:16,13:29:99:384,0,511
1 19499873 rs952789 G T 233.46 PASS AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.817;DB;DP=19;Dels=0.0;FS=2.017;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.041;QD=12.29;ReadPosRankSum=-1.429;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBR4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375217 GT:AD:DP:GQ:PL 0/1:10,9:19:99:263,0,372
1 19499954 rs952790 G A 288.82 PASS AB=0.476;AC=1;AF=0.50;AN=2;BaseQRankSum=1.091;DB;DP=21;Dels=0.0;FS=7.025;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.951;QD=13.75;ReadPosRankSum=-0.458;SNPEFF_AMINO_ACID_CHANGE=S1048;SNPEFF_CODON_CHANGE=agC/agT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_19499933_19500115;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBR4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000375217 GT:AD:DP:GQ:PL 0/1:10,11:21:99:319,0,321
1 19500729 rs6694521 G A 256.47 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.865;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.193;QD=18.32;ReadPosRankSum=-1.365;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBR4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375217 GT:AD:DP:GQ:PL 0/1:6,8:14:99:286,0,208
1 19504306 rs12138892 C G 220.48 PASS AB=0.273;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=0.715;QD=20.04;ReadPosRankSum=-0.715;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBR4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375217 GT:AD:DP:GQ:PL 0/1:3,8:11:94.43:250,0,94
1 19510394 rs3762396 A G 834.92 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=2.648;DB;DP=48;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.72;QD=17.39;ReadPosRankSum=0.211;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBR4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375217 GT:AD:DP:GQ:PL 0/1:20,28:48:99:865,0,630
1 19518659 rs11588032 G A 1152.03 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.593;DB;DP=80;Dels=0.0;FS=3.574;HRun=2;HaplotypeScore=2.9238;MQ=59.77;MQ0=0;MQRankSum=0.755;QD=14.4;ReadPosRankSum=0.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBR4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375217 GT:AD:DP:GQ:PL 0/1:40,40:80:99:1182,0,1256
1 19519782 rs10799734 C T 227.29 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.119;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.265;QD=12.63;ReadPosRankSum=-0.618;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBR4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375217 GT:AD:DP:GQ:PL 0/1:9,9:18:99:257,0,322
1 19526363 rs12122656 A G 50.85 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.3;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.55;QD=7.26;ReadPosRankSum=-0.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBR4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375217 GT:AD:DP:GQ:PL 0/1:4,3:7:80.84:81,0,149
1 19549759 rs710870 G A 716.35 PASS AB=0.425;AC=1;AF=0.50;AN=2;BaseQRankSum=5.239;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.95;MQ0=0;MQRankSum=1.242;QD=17.91;ReadPosRankSum=1.956;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA0090;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375199 GT:AD:DP:GQ:PL 0/1:17,23:40:99:746,0,455
1 19554099 rs7515397 T G 41.96 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=10.49;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA0090;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375199 GT:AD:DP:GQ:PL 0/1:2,2:4:69.73:72,0,70
1 19557281 rs12128595 G C 2148.21 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=4.639;DB;DP=172;Dels=0.0;FS=3.87;HRun=2;HaplotypeScore=3.7718;MQ=59.6;MQ0=0;MQRankSum=1.698;QD=12.49;ReadPosRankSum=-0.876;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA0090;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375199 GT:AD:DP:GQ:PL 0/1:86,86:172:99:2178,0,2516
1 19557713 rs2275403 G C 1568.70 PASS AB=0.483;AC=1;AF=0.50;AN=2;BaseQRankSum=1.974;DB;DP=118;Dels=0.0;FS=7.457;HRun=2;HaplotypeScore=1.933;MQ=60.0;MQ0=0;MQRankSum=1.179;QD=13.29;ReadPosRankSum=0.652;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA0090;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375199 GT:AD:DP:GQ:PL 0/1:57,61:118:99:1599,0,1574
1 19559729 rs16862625 A G 145.19 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.268;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.676;QD=14.52;ReadPosRankSum=1.951;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA0090;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375199 GT:AD:DP:GQ:PL 0/1:5,5:10:99:175,0,170
1 19563900 rs16862632 T G 42.52 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=14.17;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA0090;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467423 GT:AD:DP:GQ:PL 0/1:1,2:3:33.62:73,0,34
1 19565175 rs709681 T C 260.66 PASS AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=1.511;DB;DP=19;Dels=0.0;FS=3.245;HRun=2;HaplotypeScore=0.6651;MQ=58.78;MQ0=0;MQRankSum=0.041;QD=13.72;ReadPosRankSum=-0.531;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA0090;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475079 GT:AD:DP:GQ:PL 0/1:10,9:19:99:291,0,350
1 19565338 rs709682 C T 961.68 PASS AB=0.508;AC=1;AF=0.50;AN=2;BaseQRankSum=0.098;DB;DP=65;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.6316;MQ=59.65;MQ0=0;MQRankSum=-0.873;QD=14.8;ReadPosRankSum=-1.673;SNPEFF_AMINO_ACID_CHANGE=S325N;SNPEFF_CODON_CHANGE=aGt/aAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_19565289_19565351;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA0090;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000375208 GT:AD:DP:GQ:PL 0/1:33,32:65:99:992,0,990
1 19565344 rs709683 C G 900.24 PASS AB=0.54;AC=1;AF=0.50;AN=2;BaseQRankSum=0.558;DB;DP=63;Dels=0.0;FS=2.394;HRun=0;HaplotypeScore=0.9665;MQ=60.0;MQ0=0;MQRankSum=-0.752;QD=14.29;ReadPosRankSum=-0.724;SNPEFF_AMINO_ACID_CHANGE=S323T;SNPEFF_CODON_CHANGE=aGt/aCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_19565289_19565351;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA0090;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000375208 GT:AD:DP:GQ:PL 0/1:34,29:63:99:930,0,1011
1 19566627 rs710869 A G 58.44 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=1.386;DB;DP=10;Dels=0.0;FS=3.233;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.296;QD=5.84;ReadPosRankSum=0.296;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA0090;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356068 GT:AD:DP:GQ:PL 0/1:7,3:10:88.44:88,0,256
1 19568722 rs710866 G C 76.11 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.406;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=12.69;ReadPosRankSum=0.988;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA0090;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356068 GT:AD:DP:GQ:PL 0/1:3,3:6:99:106,0,108
1 19568972 rs710865 A G 1090.40 PASS AB=0.387;AC=1;AF=0.50;AN=2;BaseQRankSum=2.414;DB;DP=62;Dels=0.0;FS=4.098;HRun=0;HaplotypeScore=0.0;MQ=59.7;MQ0=0;MQRankSum=1.085;QD=17.59;ReadPosRankSum=1.262;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA0090;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356068 GT:AD:DP:GQ:PL 0/1:24,38:62:99:1120,0,570
1 19570426 rs2294944 C G 435.05 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.415;DB;DP=30;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.9987;MQ=60.0;MQ0=0;MQRankSum=-0.705;QD=14.5;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA0090;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356068 GT:AD:DP:GQ:PL 0/1:15,15:30:99:465,0,511
1 19578192 rs2294942 G A 34.75 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.95;MQ0=0;MQRankSum=1.026;QD=8.69;ReadPosRankSum=0.0;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA0090;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356068 GT:AD:DP:GQ:PL 0/1:2,2:4:51.02:65,0,51
1 19581226 rs735026 G A 445.95 PASS AB=0.588;AC=1;AF=0.50;AN=2;BaseQRankSum=1.102;DB;DP=34;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.8899;MQ=58.63;MQ0=0;MQRankSum=0.962;QD=13.12;ReadPosRankSum=0.157;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MRTO4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000330263 GT:AD:DP:GQ:PL 0/1:20,14:34:99:476,0,650
1 19581467 rs1774081 C T 63.03 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=0.55;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.03;MQ0=0;MQRankSum=0.55;QD=9.0;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MRTO4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000330263 GT:AD:DP:GQ:PL 0/1:4,3:7:93.02:93,0,132
1 19582563 rs1557133 G A 909.38 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.68;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MRTO4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000493700 GT:AD:DP:GQ:PL 1/1:0,27:27:72.23:942,72,0
1 19583330 rs2073102 G C 194.72 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=2.054;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.573;QD=21.64;ReadPosRankSum=0.573;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MRTO4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000493700 GT:AD:DP:GQ:PL 0/1:3,6:9:49.03:225,0,49
1 19583400 rs1774075 A G 1051.33 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.2;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MRTO4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000493700 GT:AD:DP:GQ:PL 1/1:0,36:36:93.25:1084,93,0
1 19583684 rs1774074 C T 1000.75 PASS AB=0.549;AC=1;AF=0.50;AN=2;BaseQRankSum=5.404;DB;DP=91;Dels=0.0;FS=10.523;HRun=1;HaplotypeScore=0.9832;MQ=58.46;MQ0=0;MQRankSum=-1.329;QD=11.0;ReadPosRankSum=0.089;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MRTO4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000493700 GT:AD:DP:GQ:PL 0/1:50,41:91:99:1031,0,1525
1 19583725 rs1738017 T C 380.46 PASS AB=0.633;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.163;DB;DP=49;Dels=0.0;FS=4.732;HRun=0;HaplotypeScore=2.3654;MQ=57.12;MQ0=0;MQRankSum=-0.342;QD=7.76;ReadPosRankSum=-1.006;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MRTO4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000493700 GT:AD:DP:GQ:PL 0/1:31,18:49:99:410,0,1032
1 19583734 rs4912057 G A 703.27 PASS AB=0.324;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.477;DB;DP=34;Dels=0.0;FS=4.638;HRun=0;HaplotypeScore=0.9983;MQ=58.63;MQ0=0;MQRankSum=-0.019;QD=20.68;ReadPosRankSum=0.63;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MRTO4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000493700 GT:AD:DP:GQ:PL 0/1:11,23:34:99:733,0,358
1 19584004 rs1042380 G A 1115.89 PASS AB=0.482;AC=1;AF=0.50;AN=2;BaseQRankSum=1.517;DB;DP=83;Dels=0.0;FS=2.028;HRun=1;HaplotypeScore=0.9995;MQ=59.44;MQ0=0;MQRankSum=0.478;QD=13.44;ReadPosRankSum=1.044;SNPEFF_AMINO_ACID_CHANGE=E110;SNPEFF_CODON_CHANGE=gaG/gaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_19583948_19584015;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MRTO4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000330263 GT:AD:DP:GQ:PL 0/1:40,43:83:99:1146,0,1218
1 19584578 rs12121472 T C 73.24 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.537;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=10.46;ReadPosRankSum=-0.988;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MRTO4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000493700 GT:AD:DP:GQ:PL 0/1:4,3:7:99:103,0,109
1 19585207 rs2294939 G A 732.91 PASS AB=0.535;AC=1;AF=0.50;AN=2;BaseQRankSum=0.645;DB;DP=71;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.35;MQ0=0;MQRankSum=0.344;QD=10.32;ReadPosRankSum=-0.597;SNPEFF_AMINO_ACID_CHANGE=K201;SNPEFF_CODON_CHANGE=aaG/aaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_19585175_19586622;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MRTO4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000330263 GT:AD:DP:GQ:PL 0/1:38,33:71:99:763,0,1101
1 19595137 rs2235795 C T 478.57 PASS AB=0.568;AC=1;AF=0.50;AN=2;BaseQRankSum=1.516;DB;DP=44;Dels=0.0;FS=9.155;HRun=0;HaplotypeScore=0.9894;MQ=58.41;MQ0=0;MQRankSum=-0.076;QD=10.88;ReadPosRankSum=-0.606;SNPEFF_AMINO_ACID_CHANGE=A220T;SNPEFF_CODON_CHANGE=Gcg/Acg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_19595066_19595195;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AKR7L;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000388886 GT:AD:DP:GQ:PL 0/1:25,19:44:99:509,0,699
1 19595892 rs6665423 G A 875.32 PASS AB=0.396;AC=1;AF=0.50;AN=2;BaseQRankSum=1.109;DB;DP=53;Dels=0.0;FS=6.325;HRun=0;HaplotypeScore=0.8321;MQ=59.56;MQ0=0;MQRankSum=1.341;QD=16.52;ReadPosRankSum=-0.357;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AKR7L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000483106 GT:AD:DP:GQ:PL 0/1:21,32:53:99:905,0,515
1 19596124 rs2235794 C T 586.54 PASS AB=0.477;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.514;DB;DP=44;Dels=0.0;FS=7.988;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=-1.175;QD=13.33;ReadPosRankSum=-0.117;SNPEFF_AMINO_ACID_CHANGE=C151Y;SNPEFF_CODON_CHANGE=tGc/tAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_19596077_19596173;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AKR7L;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000388886 GT:AD:DP:GQ:PL 0/1:21,23:44:99:617,0,615
1 19596156 rs6665756 G T 372.33 PASS AB=0.559;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.82;DB;DP=34;Dels=0.0;FS=9.238;HRun=1;HaplotypeScore=0.9999;MQ=60.0;MQ0=0;MQRankSum=-1.075;QD=10.95;ReadPosRankSum=0.492;SNPEFF_AMINO_ACID_CHANGE=T140;SNPEFF_CODON_CHANGE=acC/acA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_19596077_19596173;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AKR7L;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000388886 GT:AD:DP:GQ:PL 0/1:19,15:34:99:402,0,586
1 19596841 rs7536049 G A 348.05 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=54.95;MQ0=0;QD=24.86;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AKR7L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000493176 GT:AD:DP:GQ:PL 1/1:0,14:14:30.10:381,30,0
1 19597420 rs12046875 G T 742.04 PASS AB=0.631;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.186;DB;DP=65;Dels=0.0;FS=2.341;HRun=0;HaplotypeScore=0.9947;MQ=58.19;MQ0=0;MQRankSum=-0.021;QD=11.42;ReadPosRankSum=0.7;SNPEFF_AMINO_ACID_CHANGE=A75D;SNPEFF_CODON_CHANGE=gCt/gAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_19597242_19597429;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AKR7L;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000388886 GT:AD:DP:GQ:PL 0/1:41,24:65:99:772,0,1210
1 19609254 rs1738025 T C 716.60 PASS AB=0.473;AC=1;AF=0.50;AN=2;BaseQRankSum=2.155;DB;DP=55;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.1877;MQ=49.84;MQ0=0;MQRankSum=-0.753;QD=13.03;ReadPosRankSum=-0.061;SNPEFF_AMINO_ACID_CHANGE=T323A;SNPEFF_CODON_CHANGE=Act/Gct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_19609052_19609386;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AKR7A3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000361640 GT:AD:DP:GQ:PL 0/1:26,29:55:99:747,0,753
1 19609437 rs12070508 T C 99.67 MQFilter40 AB=0.581;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.175;DB;DP=31;Dels=0.0;FS=9.054;HRun=1;HaplotypeScore=0.0;MQ=39.35;MQ0=5;MQRankSum=-3.291;QD=3.22;ReadPosRankSum=-2.942;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AKR7A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361640 GT:AD:DP:GQ:PL 0/1:18,13:31:99:130,0,556
1 19611241 rs1738023 T C 1669.32 PASS AB=0.464;AC=1;AF=0.50;AN=2;BaseQRankSum=2.865;DB;DP=112;Dels=0.0;FS=0.713;HRun=1;HaplotypeScore=1.6809;MQ=60.0;MQ0=0;MQRankSum=-1.031;QD=14.9;ReadPosRankSum=0.521;SNPEFF_AMINO_ACID_CHANGE=N215D;SNPEFF_CODON_CHANGE=Aat/Gat;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_19611180_19611279;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AKR7A3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000361640 GT:AD:DP:GQ:PL 0/1:52,60:112:99:1699,0,1439
1 19611410 rs1968022 C G 1342.05 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.62;MQ0=0;QD=37.28;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AKR7A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361640 GT:AD:DP:GQ:PL 1/1:0,36:36:99:1375,102,0
1 19611487 rs59348345 A T 529.81 PASS AB=0.685;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.161;DB;DP=73;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.09;MQ0=0;MQRankSum=-2.758;QD=7.26;ReadPosRankSum=0.51;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AKR7A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361640 GT:AD:DP:GQ:PL 0/1:50,23:73:99:560,0,1406
1 19612249 rs9660883 G A 236.41 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=44.86;MQ0=2;QD=23.64;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AKR7A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361640 GT:AD:DP:GQ:PL 1/1:0,10:10:21.07:269,21,0
1 19632757 rs2231204 C T 157.39 PASS AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=26.23;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AKR7A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000492217 GT:AD:DP:GQ:PL 0/1:1,5:6:17.19:187,0,17
1 19638309 rs2227295 A G 332.57 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.71;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AKR7A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000235835 GT:AD:DP:GQ:PL 1/1:0,12:12:30.09:366,30,0
1 19650982 rs41264065 C T 172.25 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.45;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PQLC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375153 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:205,15,0
1 19651102 rs41264067 A G 1171.09 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=58.95;MQ0=0;QD=29.28;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PQLC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375153 GT:AD:DP:GQ:PL 1/1:1,39:40:96.29:1204,96,0
1 19651277 rs41264069 G A 540.58 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.63;MQ0=0;QD=31.8;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PQLC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375153 GT:AD:DP:GQ:PL 1/1:0,17:17:45.14:574,45,0
1 19651300 rs41264071 T C 322.45 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.83;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PQLC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375153 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:355,27,0
1 19651330 rs41264073 C T 190.74 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.79;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PQLC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375153 GT:AD:DP:GQ:PL 1/1:0,6:6:18.04:224,18,0
1 19651385 rs214314 G T 51.22 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.61;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PQLC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375153 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
1 19652063 rs11558390 G A 948.73 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.25;MQ0=0;QD=32.71;SNPEFF_AMINO_ACID_CHANGE=T123;SNPEFF_CODON_CHANGE=acG/acA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_19651989_19652076;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PQLC2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000375153 GT:AD:DP:GQ:PL 1/1:0,29:29:78.24:982,78,0
1 19652128 rs113123686 GT G 278.47 PASS AC=2;AF=1.00;AN=2;DB;DP=16;FS=0.0;HRun=2;HaplotypeScore=160.8629;IndelType=D;MQ=53.0;MQ0=0;QD=17.4;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PQLC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375153 GT:AD:DP:GQ:PL 1/1:7,9:16:38.63:321,39,0
1 19652642 rs41264075 A C 406.76 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.9;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PQLC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375153 GT:AD:DP:GQ:PL 1/1:0,12:12:33.11:440,33,0
1 19652684 rs41264077 G C 412.56 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.27;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PQLC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375153 GT:AD:DP:GQ:PL 1/1:0,17:17:36.10:446,36,0
1 19653256 rs7553611 A G 364.87 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.41;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PQLC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375153 GT:AD:DP:GQ:PL 1/1:0,12:12:30.07:398,30,0
1 19653309 rs7540401 G A 69.79 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.45;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PQLC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375153 GT:AD:DP:GQ:PL 1/1:0,4:4:9.02:102,9,0
1 19669117 rs214326 A G 197.09 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.85;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAPZB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264202 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:230,18,0
1 19669618 rs72651461 A G 48.08 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.04;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAPZB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000413711 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
1 19775566 rs1546264 G A 61.50 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.406;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.04;MQ0=0;MQRankSum=0.406;QD=10.25;ReadPosRankSum=0.406;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAPZB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264202 GT:AD:DP:GQ:PL 0/1:3,3:6:91.49:91,0,106
1 19981451 rs3828101 A G 93.02 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.01;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289749 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:125,9,0
1 19981791 rs2294630 A G 1127.82 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9332;MQ=60.0;MQ0=0;QD=30.48;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289749 GT:AD:DP:GQ:PL 1/1:0,37:37:96.28:1161,96,0
1 19992066 rs10917509 T C 87.74 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.729;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=2.219;QD=9.75;ReadPosRankSum=-0.361;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_1_19991780_19992960;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HTR6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289753 GT:AD:DP:GQ:PL 0/1:5,4:9:99:118,0,181
1 20005345 rs115124268 T C 387.78 PASS AB=0.629;AC=1;AF=0.50;AN=2;BaseQRankSum=1.485;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9973;MQ=58.67;MQ0=0;MQRankSum=1.519;QD=11.08;ReadPosRankSum=-0.017;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMCO4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294543 GT:AD:DP:GQ:PL 0/1:22,13:35:99:418,0,701
1 20005822 rs8192534 C T 136.51 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.259;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.583;QD=10.5;ReadPosRankSum=-0.467;SNPEFF_AMINO_ACID_CHANGE=P428;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_20005412_20006055;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HTR6;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000289753 GT:AD:DP:GQ:PL 0/1:6,6:13:99:167,0,163
1 20020993 rs4370779 A G 1870.25 PASS AC=2;AF=1.00;AN=2;DB;DP=72;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=59.05;MQ0=0;QD=25.62;SNPEFF_AMINO_ACID_CHANGE=R438;SNPEFF_CODON_CHANGE=cgT/cgC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_20020927_20021044;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMCO4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000375122 GT:AD:DP:GQ:PL 1/1:0,72:72:99:1903,168,0
1 20020994 rs4515815 C T 698.53 PASS AB=0.464;AC=1;AF=0.50;AN=2;BaseQRankSum=0.164;DB;DP=70;Dels=0.0;FS=2.188;HRun=0;HaplotypeScore=0.7887;MQ=59.01;MQ0=0;MQRankSum=0.309;QD=9.98;ReadPosRankSum=1.517;SNPEFF_AMINO_ACID_CHANGE=R438H;SNPEFF_CODON_CHANGE=cGt/cAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_20020927_20021044;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMCO4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000375122 GT:AD:DP:GQ:PL 0/1:32,37:70:99:729,0,907
1 20066178 rs11802745 C G 435.34 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.0;MQ0=0;QD=31.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMCO4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294543 GT:AD:DP:GQ:PL 1/1:0,14:14:36.12:468,36,0
1 20071797 rs111478619 G C 51.75 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.87;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMCO4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462171 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:83,6,0
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1 20141283 rs1541184 C T 530.26 PASS AB=0.419;AC=1;AF=0.50;AN=2;BaseQRankSum=2.662;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9983;MQ=60.0;MQ0=0;MQRankSum=0.26;QD=17.11;ReadPosRankSum=0.46;SNPEFF_AMINO_ACID_CHANGE=A104;SNPEFF_CODON_CHANGE=gcG/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_20140523_20141771;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RNF186;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000375121 GT:AD:DP:GQ:PL 0/1:13,18:31:99:560,0,392
1 20141528 rs1541185 C T 342.02 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=2.365;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9958;MQ=60.0;MQ0=0;MQRankSum=-0.788;QD=21.38;ReadPosRankSum=0.182;SNPEFF_AMINO_ACID_CHANGE=A23T;SNPEFF_CODON_CHANGE=Gct/Act;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_20140523_20141771;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RNF186;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000375121 GT:AD:DP:GQ:PL 0/1:4,12:16:99:372,0,103
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1 20246876 rs61729970 C T 354.15 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=0.533;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.315;QD=16.86;ReadPosRankSum=-0.817;SNPEFF_AMINO_ACID_CHANGE=R118H;SNPEFF_CODON_CHANGE=cGc/cAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_20246502_20246942;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLA2G2E;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000375116 GT:AD:DP:GQ:PL 0/1:9,12:21:99:384,0,225
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1 20411300 rs150400843 GT G 418.60 PASS AB=0.729;AC=1;AF=0.50;AN=2;BaseQRankSum=3.782;DB;DP=62;FS=4.216;HRun=9;HaplotypeScore=164.621;IndelType=D;MQ=59.96;MQ0=0;MQRankSum=1.277;QD=6.75;ReadPosRankSum=-0.35;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PLA2G5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375108 GT:AD:DP:GQ:PL 0/1:39,23:62:99:458,0,1004
1 20416878 rs565503 C G 202.94 PASS AB=0.222;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.179;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.067;QD=22.55;ReadPosRankSum=-1.666;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PLA2G5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460175 GT:AD:DP:GQ:PL 0/1:2,7:9:56.81:233,0,57
1 20442054 rs584367 T C 404.60 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.508;DB;DP=36;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.7887;MQ=59.36;MQ0=0;MQRankSum=-2.022;QD=11.24;ReadPosRankSum=2.118;SNPEFF_AMINO_ACID_CHANGE=S80G;SNPEFF_CODON_CHANGE=Agc/Ggc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_20442000_20442106;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLA2G2D;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000375105 GT:AD:DP:GQ:PL 0/1:21,15:36:99:435,0,728
1 20466830 rs12065685 T C 60.72 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.248;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.573;QD=6.75;ReadPosRankSum=0.573;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLA2G2F;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375102 GT:AD:DP:GQ:PL 0/1:6,3:9:90.71:91,0,225
1 20474907 rs3738126 T C 145.79 PASS AB=0.727;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.405;DB;DP=22;Dels=0.0;FS=5.367;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.553;QD=6.63;ReadPosRankSum=0.774;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLA2G2F;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465062 GT:AD:DP:GQ:PL 0/1:16,6:22:99:176,0,491
1 20490518 rs6426616 T C 382.77 PASS AB=0.481;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.334;DB;DP=27;Dels=0.0;FS=3.473;HRun=1;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=-0.461;QD=14.18;ReadPosRankSum=0.558;SNPEFF_AMINO_ACID_CHANGE=Q139R;SNPEFF_CODON_CHANGE=cAg/cGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_20487746_20490650;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLA2G2C;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000429261 GT:AD:DP:GQ:PL 0/1:13,14:27:99:413,0,356
1 20499168 rs2301475 T C 155.98 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.198;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=-1.495;QD=22.28;ReadPosRankSum=0.198;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLA2G2C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000247992 GT:AD:DP:GQ:PL 0/1:2,5:7:61.34:186,0,61
1 20501362 rs6692902 C T 138.82 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.377;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=58.33;MQ0=0;MQRankSum=-1.369;QD=9.92;ReadPosRankSum=0.312;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLA2G2C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000247992 GT:AD:DP:GQ:PL 0/1:7,7:14:99:169,0,245
1 20501582 rs12139100 G A 1640.95 PASS AB=0.53;AC=1;AF=0.50;AN=2;BaseQRankSum=1.918;DB;DP=134;Dels=0.0;FS=4.524;HRun=0;HaplotypeScore=0.6651;MQ=59.69;MQ0=0;MQRankSum=0.803;QD=12.25;ReadPosRankSum=1.445;SNPEFF_AMINO_ACID_CHANGE=R33*;SNPEFF_CODON_CHANGE=Cga/Tga;SNPEFF_EFFECT=STOP_GAINED;SNPEFF_EXON_ID=exon_1_20501500_20501638;SNPEFF_FUNCTIONAL_CLASS=NONSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLA2G2C;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000429261 GT:AD:DP:GQ:PL 0/1:71,63:134:99:1671,0,1810
1 20637043 rs12726937 C T 319.59 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.796;DB;DP=18;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.264;QD=17.76;ReadPosRankSum=1.171;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=VWA5B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289815 GT:AD:DP:GQ:PL 0/1:6,12:18:99:350,0,199
1 20637374 rs10916761 T C 79.36 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.45;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=VWA5B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289815 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:111,9,0
1 20649814 rs4655194 T C 1683.05 PASS AB=0.404;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.666;DB;DP=95;Dels=0.0;FS=3.329;HRun=3;HaplotypeScore=1.6828;MQ=59.19;MQ0=0;MQRankSum=-0.636;QD=17.72;ReadPosRankSum=-1.206;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=VWA5B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289815 GT:AD:DP:GQ:PL 0/1:38,56:95:99:1713,0,1237
1 20656824 rs2072752 A G 68.02 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.573;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.573;QD=7.56;ReadPosRankSum=-0.248;SNPEFF_AMINO_ACID_CHANGE=N186S;SNPEFF_CODON_CHANGE=aAc/aGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_20656673_20656875;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=VWA5B1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000289825 GT:AD:DP:GQ:PL 0/1:6,3:9:98.02:98,0,179
1 20657352 rs2072753 T C 635.58 PASS AB=0.516;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.19;DB;DP=62;Dels=0.0;FS=0.975;HRun=3;HaplotypeScore=0.0;MQ=59.33;MQ0=0;MQRankSum=-1.046;QD=10.25;ReadPosRankSum=-0.671;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=VWA5B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289815 GT:AD:DP:GQ:PL 0/1:32,30:62:99:666,0,1006
1 20662938 rs10916769 A G 185.90 PASS AB=0.273;AC=1;AF=0.50;AN=2;BaseQRankSum=0.715;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.715;QD=16.9;ReadPosRankSum=0.566;SNPEFF_AMINO_ACID_CHANGE=K351R;SNPEFF_CODON_CHANGE=aAa/aGa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_20662796_20662979;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=VWA5B1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000289825 GT:AD:DP:GQ:PL 0/1:3,8:11:96.10:216,0,96
1 20663985 rs145615239 G A 39.20 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=9.8;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=VWA5B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289815 GT:AD:DP:GQ:PL 0/1:1,3:4:23.47:69,0,23
1 20671807 rs61770716 T C 225.72 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=0.278;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.896;QD=20.52;ReadPosRankSum=0.678;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=VWA5B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289815 GT:AD:DP:GQ:PL 0/1:4,7:11:99:256,0,133
1 20671833 rs10799629 C A 206.73 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.98;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.33;MQ0=0;MQRankSum=2.339;QD=14.77;ReadPosRankSum=-0.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=VWA5B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289815 GT:AD:DP:GQ:PL 0/1:7,7:14:99:237,0,248
1 20671961 rs11582960 G A 502.37 PASS AB=0.419;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.487;DB;DP=31;Dels=0.0;FS=3.482;HRun=0;HaplotypeScore=0.0;MQ=59.25;MQ0=0;MQRankSum=0.318;QD=16.21;ReadPosRankSum=0.699;SNPEFF_AMINO_ACID_CHANGE=R880H;SNPEFF_CODON_CHANGE=cGc/cAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_20671949_20672086;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=VWA5B1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000289815 GT:AD:DP:GQ:PL 0/1:13,18:31:99:532,0,323
1 20672101 rs4655200 C T 81 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.231;QD=16.2;ReadPosRankSum=0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=VWA5B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289815 GT:AD:DP:GQ:PL 0/1:2,3:5:18.55:111,0,19
1 20931279 rs111333323 C T 49.41 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.7;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375071 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
1 20940258 rs488991 T A 700.26 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.87;MQ0=0;QD=31.83;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375071 GT:AD:DP:GQ:PL 1/1:0,22:22:54.18:733,54,0
1 20960230 rs45530340 C T 81.93 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.31;SNPEFF_AMINO_ACID_CHANGE=L63;SNPEFF_CODON_CHANGE=ctC/ctT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_20959948_20960428;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PINK1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000321556 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:114,9,0
1 20964328 rs2298298 A G 983.08 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.702;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=-0.234;QD=26.57;ReadPosRankSum=-0.89;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PINK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000321556 GT:AD:DP:GQ:PL 1/1:1,36:37:46.61:1016,47,0
1 20971875 rs3131712 G A 42.87 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=14.29;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PINK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000321556 GT:AD:DP:GQ:PL 0/1:1,2:3:21.56:73,0,22
1 20972048 rs3131713 G A 364.92 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=51.77;MQ0=0;QD=24.33;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PINK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000321556 GT:AD:DP:GQ:PL 1/1:0,14:15:33.07:398,33,0
1 20972340 rs3131714 G A 148.85 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=41.96;MQ0=0;QD=24.81;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PINK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000321556 GT:AD:DP:GQ:PL 1/1:0,6:6:15.04:182,15,0
1 20972373 rs141853877 CG C 138.26 PASS AC=2;AF=1.00;AN=2;DB;DP=5;FS=0.0;HRun=4;HaplotypeScore=90.9167;IndelType=D;MQ=44.1;MQ0=0;QD=27.65;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PINK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000321556 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:180,15,0
1 20977221 rs686658 A T 542.80 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.16;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DDOST;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375048 GT:AD:DP:GQ:PL 1/1:0,18:18:42.13:576,42,0
1 20978832 rs6893 T C 266.73 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.64;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DDOST;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464364 GT:AD:DP:GQ:PL 1/1:0,9:9:24.07:300,24,0
1 20979307 rs34089130 G GT 1968.95 PASS AC=2;AF=1.00;AN=2;DB;DP=49;FS=0.0;HRun=3;HaplotypeScore=92.3453;IndelType=I;MQ=60.66;MQ0=0;QD=40.18;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DDOST;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464364 GT:AD:DP:GQ:PL 1/1:1,48:49:99:2011,144,0
1 20981806 rs592851 G A 436 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.33;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DDOST;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464364 GT:AD:DP:GQ:PL 1/1:0,12:12:36.11:469,36,0
1 20987873 rs537816 G C 674.48 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.5449;MQ=58.99;MQ0=0;QD=29.33;SNPEFF_AMINO_ACID_CHANGE=R8G;SNPEFF_CODON_CHANGE=Cgt/Ggt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_20987690_20988000;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DDOST;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000375048 GT:AD:DP:GQ:PL 1/1:0,23:23:51.17:707,51,0
1 20991273 rs56070322 G A 295.47 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.55;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462858 GT:AD:DP:GQ:PL 1/1:0,10:10:24.08:328,24,0
1 20992819 rs631357 G C 2041.64 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9469;MQ=60.0;MQ0=0;QD=30.02;SNPEFF_AMINO_ACID_CHANGE=D314E;SNPEFF_CODON_CHANGE=gaC/gaG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_20992707_20992824;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF17;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000321188 GT:AD:DP:GQ:PL 1/1:0,68:68:99:2075,162,0
1 20992933 rs573268 G C 525.76 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.67;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000498225 GT:AD:DP:GQ:PL 1/1:0,19:19:45.13:559,45,0
1 21024743 rs521424 G A 37.18 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.026;QD=9.29;ReadPosRankSum=1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000247986 GT:AD:DP:GQ:PL 0/1:2,2:4:67.17:67,0,69
1 21024901 rs522496 C T 286.46 PASS AB=0.593;AC=1;AF=0.50;AN=2;BaseQRankSum=0.617;DB;DP=27;Dels=0.0;FS=1.485;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.666;QD=10.61;ReadPosRankSum=0.567;SNPEFF_AMINO_ACID_CHANGE=V302M;SNPEFF_CODON_CHANGE=Gtg/Atg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_21024872_21024981;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF17;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000375044 GT:AD:DP:GQ:PL 0/1:16,11:27:99:316,0,490
1 21030902 rs900039 G T 75.78 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.731;QD=15.16;ReadPosRankSum=0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000247986 GT:AD:DP:GQ:PL 0/1:1,4:5:30.19:106,0,30
1 21031042 rs2296225 T C 522.29 PASS AB=0.485;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.227;DB;DP=33;Dels=0.0;FS=9.756;HRun=0;HaplotypeScore=1.6281;MQ=60.0;MQ0=0;MQRankSum=0.717;QD=15.83;ReadPosRankSum=-0.415;SNPEFF_AMINO_ACID_CHANGE=I241V;SNPEFF_CODON_CHANGE=Atc/Gtc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_21030940_21031392;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF17;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000375044 GT:AD:DP:GQ:PL 0/1:16,17:33:99:552,0,472
1 21040079 rs10799661 C A 492.40 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9983;MQ=58.45;MQ0=0;QD=32.83;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000247986 GT:AD:DP:GQ:PL 1/1:0,15:15:39.12:525,39,0
1 21040088 rs41307866 C T 138.08 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=1.485;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9983;MQ=58.33;MQ0=0;MQRankSum=0.71;QD=9.86;ReadPosRankSum=-0.194;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000247986 GT:AD:DP:GQ:PL 0/1:8,6:14:99:168,0,216
1 21043790 rs519209 T C 33.67 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=16.84;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SH2D5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375031 GT:AD:DP:GQ:PL 1/1:0,2:2:6:65,6,0
1 21043913 rs604659 T C 510.65 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.85;MQ0=0;QD=34.04;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SH2D5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375031 GT:AD:DP:GQ:PL 1/1:0,15:15:42.13:544,42,0
1 21043926 rs604645 T C 456.30 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=57.23;MQ0=0;QD=26.84;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SH2D5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375031 GT:AD:DP:GQ:PL 1/1:0,17:17:39.12:489,39,0
1 21044161 rs601329 A G 396.08 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.29;SNPEFF_AMINO_ACID_CHANGE=R13;SNPEFF_CODON_CHANGE=cgT/cgC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_21043969_21044510;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF17;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000247986 GT:AD:DP:GQ:PL 1/1:0,14:14:33.11:429,33,0
1 21044219 rs601392 A C 288.95 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.11;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_1_21043969_21044510;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF17;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000247986 GT:AD:DP:GQ:PL 1/1:0,9:9:24.08:322,24,0
1 21050958 rs592060 C T 862.99 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.33;MQ0=0;QD=30.82;SNPEFF_AMINO_ACID_CHANGE=Q103;SNPEFF_CODON_CHANGE=caG/caA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_21050889_21051128;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SH2D5;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000375031 GT:AD:DP:GQ:PL 1/1:0,27:28:66.21:896,66,0
1 21054726 rs646786 A G 49.83 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.92;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SH2D5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375031 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
1 21097727 rs3736880 G A 210.85 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.14;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HP1BP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375000 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:244,18,0
1 21097783 rs651085 G A 80.21 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.74;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HP1BP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375000 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:112,9,0
1 21099846 rs589755 A G 463.44 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.65;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HP1BP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375000 GT:AD:DP:GQ:PL 1/1:0,13:13:36.12:496,36,0
1 21143774 rs12126757 A T 43.53 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.77;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EIF4G3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264211 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:75,6,0
1 21167404 rs7553394 A G 2267.29 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9578;MQ=60.0;MQ0=0;QD=36.57;SNPEFF_AMINO_ACID_CHANGE=L1000;SNPEFF_CODON_CHANGE=Tta/Cta;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_21167349_21167521;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EIF4G3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000374935 GT:AD:DP:GQ:PL 1/1:0,62:62:99:2300,172,0
1 21175855 rs7525082 C A 1473.62 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.51;MQ0=0;QD=31.35;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EIF4G3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264211 GT:AD:DP:GQ:PL 1/1:0,47:47:99:1507,111,0
1 21179969 rs7542882 G A 344.98 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.54;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EIF4G3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264211 GT:AD:DP:GQ:PL 1/1:0,13:13:27.09:378,27,0
1 21188871 rs17409373 C A 1129.09 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=59.28;MQ0=0;QD=35.28;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EIF4G3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264211 GT:AD:DP:GQ:PL 1/1:0,32:32:90.29:1162,90,0
1 21295864 rs2271115 C T 887.80 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.63;MQ0=0;QD=35.51;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EIF4G3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000411888 GT:AD:DP:GQ:PL 1/1:0,25:25:69.22:921,69,0
1 21325360 rs885363 C A 400.92 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=58.43;MQ0=0;QD=33.41;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EIF4G3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264211 GT:AD:DP:GQ:PL 1/1:0,12:12:33.11:434,33,0
1 21327637 rs1395508 C T 2069.87 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.04;MQ0=0;QD=32.86;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EIF4G3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264211 GT:AD:DP:GQ:PL 1/1:0,63:63:99:2103,154,0
1 21328960 rs78042703 A G 93.76 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9989;MQ=60.0;MQ0=0;MQRankSum=-0.72;QD=15.63;ReadPosRankSum=-0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EIF4G3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264211 GT:AD:DP:GQ:PL 0/1:2,4:6:53.34:124,0,53
1 21377314 rs6426663 C T 390.79 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EIF4G3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264211 GT:AD:DP:GQ:PL 1/1:0,14:14:33.11:424,33,0
1 21494634 rs61779121 C T 249.25 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.62;MQ0=0;QD=35.61;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EIF4G3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000400415 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:282,21,0
1 21551550 rs2038090 A C 45.05 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.53;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ECE1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264205 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:76,6,0
1 21560253 rs28368029 G C 91.49 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.5;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ECE1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000528294 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:124,9,0
1 21571601 rs12562197 G A 1054.54 PASS AB=0.345;AC=1;AF=0.50;AN=2;BaseQRankSum=1.648;DB;DP=55;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9998;MQ=58.81;MQ0=0;MQRankSum=-0.435;QD=19.17;ReadPosRankSum=0.96;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ECE1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264205 GT:AD:DP:GQ:PL 0/1:19,36:55:99:1085,0,595
1 21573722 rs2229450 G A 749.71 PASS AB=0.361;AC=1;AF=0.50;AN=2;BaseQRankSum=2.404;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-2.075;QD=20.83;ReadPosRankSum=-0.626;SNPEFF_AMINO_ACID_CHANGE=T369;SNPEFF_CODON_CHANGE=acC/acT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_21573714_21573856;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ECE1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000415912 GT:AD:DP:GQ:PL 0/1:13,23:36:99:780,0,372
1 21582348 rs2076282 T C 142.71 PASS AB=0.741;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.743;DB;DP=27;Dels=0.0;FS=3.385;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.138;QD=5.29;ReadPosRankSum=-0.747;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ECE1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473505 GT:AD:DP:GQ:PL 0/1:20,7:27:99:173,0,755
1 21583925 rs2076280 C T 36.60 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=9.15;ReadPosRankSum=-1.026;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ECE1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473505 GT:AD:DP:GQ:PL 0/1:2,2:4:66.59:67,0,73
1 21583973 rs3026879 A G 36.03 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.159;DB;DP=9;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.729;QD=4.0;ReadPosRankSum=-0.361;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ECE1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473505 GT:AD:DP:GQ:PL 0/1:5,4:9:66.02:66,0,153
1 21738020 rs2316499 A G 1654.25 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9789;MQ=54.69;MQ0=0;QD=33.09;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP11-293F5.8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443127 GT:AD:DP:GQ:PL 1/1:0,49:50:99:1687,132,0
1 21750970 rs149361209 T A 105.60 MQFilter40 AB=0.559;AC=1;AF=0.50;AN=2;BaseQRankSum=0.913;DB;DP=34;Dels=0.0;FS=4.337;HRun=1;HaplotypeScore=0.9734;MQ=20.32;MQ0=11;MQRankSum=-0.409;QD=3.11;ReadPosRankSum=-2.362;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=NBPF2P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426482 GT:AD:DP:GQ:PL 0/1:19,15:34:99:136,0,300
1 21751068 rs71512975 C G 783.74 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=122;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=13.73;MQ0=63;QD=6.42;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=NBPF2P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426482 GT:AD:DP:GQ:PL 1/1:0,122:122:90.05:817,90,0
1 21751116 . G C 693.62 MQFilter40 AB=0.461;AC=1;AF=0.50;AN=2;BaseQRankSum=0.089;DP=180;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=14.6;MQ0=83;MQRankSum=0.126;QD=3.85;ReadPosRankSum=0.97;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=NBPF2P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426482 GT:AD:DP:GQ:PL 0/1:83,97:180:99:724,0,379
1 21751142 rs150916531 A G 791.89 MQFilter40 AB=0.445;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.524;DB;DP=182;Dels=0.0;FS=5.431;HRun=2;HaplotypeScore=0.0;MQ=14.95;MQ0=81;MQRankSum=1.295;QD=4.35;ReadPosRankSum=0.491;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=NBPF2P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426482 GT:AD:DP:GQ:PL 0/1:81,101:182:99:822,0,347
1 21751214 rs72476501 G A 2848.07 MQFilter40 AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.136;DB;DP=234;Dels=0.0;FS=4.943;HRun=0;HaplotypeScore=2.6383;MQ=33.38;MQ0=16;MQRankSum=4.516;QD=12.12;ReadPosRankSum=0.251;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=NBPF2P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426482 GT:AD:DP:GQ:PL 0/1:104,130:234:99:2878,0,1980
1 21752682 rs71512992 G A 1647.31 MQFilter40 AB=0.497;AC=1;AF=0.50;AN=2;BaseQRankSum=7.423;DB;DP=167;Dels=0.0;FS=21.614;HRun=0;HaplotypeScore=0.0;MQ=30.15;MQ0=2;MQRankSum=-1.692;QD=9.86;ReadPosRankSum=0.282;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=NBPF2P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426482 GT:AD:DP:GQ:PL 0/1:83,84:167:99:1677,0,1771
1 21752746 rs140646278 G A 2412.58 MQFilter40 AB=0.46;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.506;DB;DP=249;DS;Dels=0.0;FS=4.085;HRun=4;HaplotypeScore=1.6281;MQ=28.98;MQ0=12;MQRankSum=0.072;QD=9.69;ReadPosRankSum=-0.431;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=NBPF2P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426482 GT:AD:DP:GQ:PL 0/1:114,134:249:99:2443,0,2143
1 21752766 rs144829292 A G 1339.48 MQFilter40 AB=0.592;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.619;DB;DP=223;DS;Dels=0.0;FS=0.603;HRun=0;HaplotypeScore=3.3597;MQ=26.79;MQ0=20;MQRankSum=0.92;QD=6.01;ReadPosRankSum=-1.513;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=NBPF2P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426482 GT:AD:DP:GQ:PL 0/1:132,91:223:99:1369,0,2393
1 21752782 rs140348908 T G 962.16 MQFilter40 AB=0.611;AC=1;AF=0.50;AN=2;BaseQRankSum=3.347;DB;DP=208;DS;Dels=0.0;FS=2.288;HRun=0;HaplotypeScore=0.5784;MQ=24.96;MQ0=23;MQRankSum=0.268;QD=4.63;ReadPosRankSum=-2.687;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=NBPF2P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426482 GT:AD:DP:GQ:PL 0/1:127,81:208:99:992,0,2074
1 21753562 rs146549873 A C 4581.68 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=183;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=4.3572;MQ=33.19;MQ0=7;QD=25.04;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=NBPF2P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426482 GT:AD:DP:GQ:PL 1/1:1,182:183:99:4582,361,0
1 21753715 rs7364712 T C 943.98 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=28.09;MQ0=22;QD=15.48;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=NBPF2P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426482 GT:AD:DP:GQ:PL 1/1:0,61:61:87.24:977,87,0
1 21754283 rs6426689 A C 8180.60 PASS AC=2;AF=1.00;AN=2;DB;DP=249;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.3113;MQ=50.36;MQ0=3;QD=32.72;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=NBPF2P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426482 GT:AD:DP:GQ:PL 1/1:0,249:249:99:8181,653,0
1 21754920 rs183181907 G T 101.42 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=38.46;MQ0=0;QD=20.28;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=HS6ST1P1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481504 GT:AD:DP:GQ:PL 1/1:0,5:5:12.03:134,12,0
1 21754996 rs12024079 C T 169.19 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=32.41;MQ0=0;QD=24.17;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=HS6ST1P1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481504 GT:AD:DP:GQ:PL 1/1:0,7:7:18.04:202,18,0
1 21755055 rs12024104 C A 61.51 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=16.96;MQ0=5;QD=6.15;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=HS6ST1P1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481504 GT:AD:DP:GQ:PL 1/1:3,7:10:9.02:94,9,0
1 21755345 rs41302023 T C 575.69 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=41.83;MQ0=1;QD=26.17;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=HS6ST1P1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481504 GT:AD:DP:GQ:PL 1/1:0,22:22:51.11:609,51,0
1 21755408 rs41312003 A G 496.57 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=29.49;MQ0=7;QD=19.86;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=HS6ST1P1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481504 GT:AD:DP:GQ:PL 1/1:0,25:25:48.10:530,48,0
1 21755453 rs3856177 G A 218.70 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=22.04;MQ0=7;QD=13.67;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=HS6ST1P1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481504 GT:AD:DP:GQ:PL 1/1:0,16:16:21.06:252,21,0
1 21755517 rs41300136 C T 61.51 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=10.88;MQ0=18;QD=2.56;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=HS6ST1P1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481504 GT:AD:DP:GQ:PL 1/1:8,16:24:9.02:94,9,0
1 21755756 rs56343055 G C 185.04 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=42.03;MQ0=0;QD=26.43;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=HS6ST1P1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481504 GT:AD:DP:GQ:PL 1/1:0,7:7:18.05:218,18,0
1 21755867 rs7522332 A G 567.08 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=29.68;MQ0=2;QD=24.66;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=HS6ST1P1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481504 GT:AD:DP:GQ:PL 1/1:0,23:23:54.14:600,54,0
1 21755906 rs3738922 G A 412.17 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=36.16;MQ0=2;QD=16.49;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=HS6ST1P1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481504 GT:AD:DP:GQ:PL 1/1:1,22:25:36.10:445,36,0
1 21756008 rs3894725 G T 276.62 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=39.54;MQ0=0;QD=27.66;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=HS6ST1P1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481504 GT:AD:DP:GQ:PL 1/1:0,10:10:27.06:310,27,0
1 21756069 rs7532750 G A 61.87 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=38.22;MQ0=0;QD=12.37;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=HS6ST1P1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481504 GT:AD:DP:GQ:PL 1/1:0,5:5:9.02:94,9,0
1 21771997 rs12118362 G A 31.08 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=45.44;MQ0=0;QD=15.54;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475869 GT:AD:DP:GQ:PL 1/1:0,2:2:5.99:62,6,0
1 21795388 rs1827293 A G 2493.67 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.71;MQ0=0;QD=38.36;SNPEFF_AMINO_ACID_CHANGE=Y114C;SNPEFF_CODON_CHANGE=tAc/tGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_21795181_21795390;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000318249 GT:AD:DP:GQ:PL 1/1:0,65:65:99:2527,184,0
1 21797419 rs4654944 T C 238.39 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.8;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000486229 GT:AD:DP:GQ:PL 1/1:0,8:8:21.07:271,21,0
1 21797996 rs2004380 G A 2228.97 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7825;MQ=58.57;MQ0=0;QD=35.38;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000486229 GT:AD:DP:GQ:PL 1/1:0,63:63:99:2262,175,0
1 21799489 rs1971327 T C 883.81 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9734;MQ=58.23;MQ0=0;QD=30.48;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000486229 GT:AD:DP:GQ:PL 1/1:0,29:29:81.20:917,81,0
1 21799823 rs1971328 A G 3526.35 PASS AC=2;AF=1.00;AN=2;DB;DP=95;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.76;MQ0=0;QD=37.12;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000486229 GT:AD:DP:GQ:PL 1/1:0,95:95:99:3526,262,0
1 21800185 rs7520015 T G 989.04 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.04;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000486229 GT:AD:DP:GQ:PL 1/1:0,26:26:78.24:1022,78,0
1 21800219 rs10916996 C T 351.37 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.14;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000486229 GT:AD:DP:GQ:PL 1/1:0,10:10:30.09:384,30,0
1 21801346 rs7531217 G A 3083.82 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.45;DB;DP=86;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.73;MQ0=0;MQRankSum=-0.524;QD=35.86;ReadPosRankSum=0.242;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318220 GT:AD:DP:GQ:PL 1/1:1,85:86:99:3117,211,0
1 21804815 rs7535654 T G 5196.10 PASS AC=2;AF=1.00;AN=2;DB;DP=160;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.5317;MQ=58.54;MQ0=0;QD=32.48;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318220 GT:AD:DP:GQ:PL 1/1:0,160:160:99:5196,391,0
1 21805730 rs2316504 A G 1349.66 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.56;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318220 GT:AD:DP:GQ:PL 1/1:0,35:35:99:1383,102,0
1 21805978 rs4654948 G A 1577.77 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.966;MQ=57.75;MQ0=2;QD=35.86;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318220 GT:AD:DP:GQ:PL 1/1:0,44:44:99:1611,123,0
1 21806341 rs79760554 G A 70.22 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.517;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.9876;MQ=45.75;MQ0=0;MQRankSum=0.956;QD=8.78;ReadPosRankSum=-0.322;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318220 GT:AD:DP:GQ:PL 1/1:3,5:8:11.99:103,12,0
1 21806447 rs3820296 T C 1020.47 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=39.57;MQ0=0;QD=18.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318220 GT:AD:DP:GQ:PL 1/1:0,55:55:87.22:1053,87,0
1 21806667 rs12043777 C G 190.34 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=18.41;MQ0=2;QD=8.65;SNPEFF_AMINO_ACID_CHANGE=D374E;SNPEFF_CODON_CHANGE=gaC/gaG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_21806544_21806716;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000454000 GT:AD:DP:GQ:PL 1/1:0,22:22:21.04:223,21,0
1 21806710 rs12034222 T G 256.15 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=24.41;MQ0=2;QD=17.08;SNPEFF_AMINO_ACID_CHANGE=L389V;SNPEFF_CODON_CHANGE=Ttg/Gtg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_21806544_21806716;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000454000 GT:AD:DP:GQ:PL 1/1:0,15:15:27.05:289,27,0
1 21806792 rs56286426 C T 95.47 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=26.4;MQ0=0;QD=19.09;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477050 GT:AD:DP:GQ:PL 1/1:0,5:5:12.03:128,12,0
1 21807273 rs61775950 A G 346.22 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=16.68;MQ0=9;QD=9.62;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477050 GT:AD:DP:GQ:PL 1/1:0,36:36:42.02:379,42,0
1 21808159 rs71512991 G A 2103.47 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=104;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.3999;MQ=29.11;MQ0=16;QD=20.23;SNPEFF_AMINO_ACID_CHANGE=S431;SNPEFF_CODON_CHANGE=tcG/tcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_21808090_21808262;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000454000 GT:AD:DP:GQ:PL 1/1:10,94:104:99:2136,195,0
1 21808207 rs146564096 A C 447.16 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=13.92;MQ0=31;QD=6.78;SNPEFF_AMINO_ACID_CHANGE=G447;SNPEFF_CODON_CHANGE=ggA/ggC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_21808090_21808262;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000454000 GT:AD:DP:GQ:PL 1/1:15,51:66:54.02:480,54,0
1 21808223 rs145079058 T C 260.43 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=12.67;MQ0=27;QD=5.21;SNPEFF_AMINO_ACID_CHANGE=L453;SNPEFF_CODON_CHANGE=Ttg/Ctg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_21808090_21808262;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000454000 GT:AD:DP:GQ:PL 1/1:9,41:50:33.01:293,33,0
1 21808281 rs143561157 G A 35.63 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=11.67;MQ0=11;QD=2.54;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477050 GT:AD:DP:GQ:PL 1/1:0,14:14:6.02:67,6,0
1 21808307 rs146767219 C T 35.63 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=11.54;MQ0=12;QD=2.23;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477050 GT:AD:DP:GQ:PL 1/1:2,14:16:6.02:67,6,0
1 21808949 . T G 146.19 MQFilter40;QDFilter2 AC=2;AF=1.00;AN=2;DP=234;DS;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=4.68;MQ0=229;QD=0.62;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477050 GT:AD:DP:GQ:PL 1/1:117,116:234:15.04:179,15,0
1 21809436 . C T 298.71 MQFilter40 AC=2;AF=1.00;AN=2;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=28.01;MQ0=2;QD=24.89;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477050 GT:AD:DP:GQ:PL 1/1:1,11:12:30.07:332,30,0
1 21809524 rs71512993 A C 1376.88 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=32.53;MQ0=1;QD=28.1;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477050 GT:AD:DP:GQ:PL 1/1:0,49:49:99:1410,126,0
1 21809750 . T C 1568.01 MQFilter40 AC=2;AF=1.00;AN=2;DP=48;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=28.92;MQ0=0;QD=32.67;SNPEFF_AMINO_ACID_CHANGE=Y521;SNPEFF_CODON_CHANGE=taT/taC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_21809636_21809960;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000454000 GT:AD:DP:GQ:PL 1/1:0,48:48:99:1601,144,0
1 21809924 . G C 106.25 MQFilter40;QDFilter2 AC=2;AF=1.00;AN=2;DP=58;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=8.22;MQ0=54;QD=1.83;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000434838 GT:AD:DP:GQ:PL 1/1:0,58:58:12.03:139,12,0
1 21889635 rs1780316 T C 1284.14 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=58.37;MQ0=0;QD=29.86;SNPEFF_AMINO_ACID_CHANGE=S110;SNPEFF_CODON_CHANGE=agT/agC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_21889603_21889777;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALPL;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000374832 GT:AD:DP:GQ:PL 1/1:0,43:43:99:1317,111,0
1 21890386 rs1256335 G A 82.33 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.44;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALPL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374832 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:114,9,0
1 21890464 rs1767428 A G 576.17 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=58.63;MQ0=0;QD=33.89;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALPL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374832 GT:AD:DP:GQ:PL 1/1:0,17:17:51.14:609,51,0
1 21900420 rs2275370 A G 129.93 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.99;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALPL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374830 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:162,12,0
1 21926187 rs1767445 C T 117.32 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.198;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.922;QD=14.66;ReadPosRankSum=1.495;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RAP1GAP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460929 GT:AD:DP:GQ:PL 0/1:3,5:8:64.82:147,0,65
1 21928344 rs2275366 C G 232.53 PASS AB=0.385;AC=1;AF=0.50;AN=2;BaseQRankSum=1.381;DB;DP=13;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9665;MQ=60.0;MQ0=0;MQRankSum=0.533;QD=17.89;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RAP1GAP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460929 GT:AD:DP:GQ:PL 0/1:5,8:13:99:263,0,141
1 21929260 rs829368 A G 195.22 PASS AB=0.611;AC=1;AF=0.50;AN=2;BaseQRankSum=1.63;DB;DP=18;Dels=0.0;FS=6.107;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.453;QD=10.85;ReadPosRankSum=0.815;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RAP1GAP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460929 GT:AD:DP:GQ:PL 0/1:11,7:18:99:225,0,316
1 21934667 rs829371 G A 639.77 PASS AB=0.231;AC=1;AF=0.50;AN=2;BaseQRankSum=2.769;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7825;MQ=60.0;MQ0=0;MQRankSum=1.674;QD=24.61;ReadPosRankSum=0.03;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RAP1GAP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359708 GT:AD:DP:GQ:PL 0/1:6,20:26:99:670,0,142
1 21935433 rs861212 G T 300.78 PASS AB=0.689;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.999;DB;DP=45;Dels=0.0;FS=1.399;HRun=0;HaplotypeScore=0.734;MQ=59.49;MQ0=0;MQRankSum=0.109;QD=6.68;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RAP1GAP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359708 GT:AD:DP:GQ:PL 0/1:31,14:45:99:331,0,943
1 21937807 rs1256281 C G 48.72 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.36;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RAP1GAP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359708 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:80,6,0
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1 21991474 rs76768405 G A 81.39 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=55.16;MQ0=0;QD=20.35;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RAP1GAP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317967 GT:AD:DP:GQ:PL 1/1:0,4:4:9.02:113,9,0
1 21991760 rs75449578 C T 743.95 PASS AB=0.449;AC=1;AF=0.50;AN=2;BaseQRankSum=1.638;DB;DP=49;Dels=0.0;FS=2.471;HRun=1;HaplotypeScore=0.9983;MQ=59.05;MQ0=0;MQRankSum=-0.774;QD=15.18;ReadPosRankSum=-0.05;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RAP1GAP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374765 GT:AD:DP:GQ:PL 0/1:22,27:49:99:774,0,594
1 22016719 rs1618590 T C 293.85 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.65;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP48;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000308271 GT:AD:DP:GQ:PL 1/1:0,9:9:24.08:327,24,0
1 22021862 rs16825823 G A 77.37 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.231;QD=15.47;ReadPosRankSum=-1.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP48;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000308271 GT:AD:DP:GQ:PL 0/1:2,3:5:67.27:107,0,67
1 22032472 rs11426922 A AT 390.31 PASS AC=2;AF=1.00;AN=2;DB;DP=11;FS=0.0;HRun=2;HaplotypeScore=20.2312;IndelType=I;MQ=60.0;MQ0=0;QD=35.48;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP48;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000308271 GT:AD:DP:GQ:PL 1/1:1,10:11:30.10:432,30,0
1 22050264 rs900488 C G 265.15 PASS AB=0.609;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.472;DB;DP=23;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9734;MQ=60.0;MQ0=0;MQRankSum=0.283;QD=11.53;ReadPosRankSum=-0.598;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP48;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421625 GT:AD:DP:GQ:PL 0/1:14,9:23:99:295,0,512
1 22050649 rs2275668 C A 706.51 PASS AB=0.39;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.548;DB;DP=41;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.762;QD=17.23;ReadPosRankSum=-0.2;SNPEFF_AMINO_ACID_CHANGE=V3L;SNPEFF_CODON_CHANGE=Gta/Tta;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_22050391_22051612;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP48;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000374732 GT:AD:DP:GQ:PL 0/1:16,25:41:99:737,0,551
1 22063149 rs10753517 G A 164.83 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.047;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.43;MQ0=0;MQRankSum=0.0;QD=13.74;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP48;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000308271 GT:AD:DP:GQ:PL 0/1:6,6:12:99:195,0,217
1 22082923 rs10458384 G A 447.22 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=3.028;DB;DP=32;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=52.48;MQ0=0;MQRankSum=-0.373;QD=13.98;ReadPosRankSum=-0.373;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP48;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000489108 GT:AD:DP:GQ:PL 0/1:16,16:32:99:477,0,368
1 22082967 rs35545280 C CA 134.93 QDFilter2 AB=0.864;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.96;DB;DP=70;FS=4.491;HRun=20;HaplotypeScore=566.8313;IndelType=I;MQ=48.39;MQ0=0;MQRankSum=-0.036;QD=1.93;ReadPosRankSum=0.178;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP48;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000489108 GT:AD:DP:GQ:PL 0/1:38,8:70:99:174,0,130
1 22141030 rs75506362 C T 269.95 PASS AB=0.524;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.096;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.89;MQ0=0;MQRankSum=0.945;QD=12.85;ReadPosRankSum=-1.172;SNPEFF_AMINO_ACID_CHANGE=D75;SNPEFF_CODON_CHANGE=gaC/gaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_22140891_22141316;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LDLRAD2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000344642 GT:AD:DP:GQ:PL 0/1:11,10:21:99:300,0,335
1 22148164 rs6695528 G A 126.10 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.591;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7719;MQ=60.0;MQ0=0;MQRankSum=-0.059;QD=7.88;ReadPosRankSum=-0.648;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HSPG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374695 GT:AD:DP:GQ:PL 0/1:9,7:16:99:156,0,295
1 22149935 rs897467 T C 266.94 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.69;SNPEFF_AMINO_ACID_CHANGE=S4350;SNPEFF_CODON_CHANGE=tcA/tcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_22148738_22149981;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HSPG2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000374695 GT:AD:DP:GQ:PL 1/1:0,10:10:24.06:300,24,0
1 22150120 rs3736360 C T 610.10 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.837;DB;DP=60;Dels=0.0;FS=1.034;HRun=1;HaplotypeScore=0.0;MQ=59.62;MQ0=0;MQRankSum=-1.29;QD=10.17;ReadPosRankSum=-0.505;SNPEFF_AMINO_ACID_CHANGE=S4331N;SNPEFF_CODON_CHANGE=aGc/aAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_22150109_22150212;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HSPG2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000374695 GT:AD:DP:GQ:PL 0/1:32,28:60:99:640,0,936
1 22150160 rs3736358 G T 571.95 PASS AB=0.582;AC=1;AF=0.50;AN=2;BaseQRankSum=1.63;DB;DP=55;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.3893;MQ=59.58;MQ0=0;MQRankSum=-0.52;QD=10.4;ReadPosRankSum=0.998;SNPEFF_AMINO_ACID_CHANGE=R4318;SNPEFF_CODON_CHANGE=Cgg/Agg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_22150109_22150212;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HSPG2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000374695 GT:AD:DP:GQ:PL 0/1:32,23:55:99:602,0,1025
1 22150257 rs3736357 C T 354.32 PASS AB=0.294;AC=1;AF=0.50;AN=2;BaseQRankSum=0.791;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.685;QD=20.84;ReadPosRankSum=-0.264;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LDLRAD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484271 GT:AD:DP:GQ:PL 0/1:5,12:17:99:384,0,149
1 22154845 rs2228347 A G 601.28 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=0.448;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=59.43;MQ0=0;MQRankSum=0.175;QD=18.22;ReadPosRankSum=0.759;SNPEFF_AMINO_ACID_CHANGE=D4104;SNPEFF_CODON_CHANGE=gaT/gaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_22154748_22154919;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HSPG2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000374695 GT:AD:DP:GQ:PL 0/1:12,21:33:99:631,0,401
1 22154987 rs10917052 G A 218.17 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.555;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9159;MQ=60.0;MQ0=0;MQRankSum=-1.109;QD=16.78;ReadPosRankSum=-0.925;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HSPG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469378 GT:AD:DP:GQ:PL 0/1:3,9:12:93.98:248,0,94
1 22155723 rs7518070 T C 174.72 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.94;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HSPG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426143 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:207,15,0
1 22155841 rs12042189 T C 170.41 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.381;DB;DP=14;Dels=0.0;FS=2.632;HRun=0;HaplotypeScore=0.8667;MQ=58.33;MQ0=0;MQRankSum=-0.696;QD=12.17;ReadPosRankSum=-0.696;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HSPG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426143 GT:AD:DP:GQ:PL 0/1:6,8:14:99:200,0,123
1 22155853 rs12023794 C T 234.76 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=1.588;DB;DP=17;Dels=0.0;FS=4.598;HRun=0;HaplotypeScore=0.8667;MQ=58.63;MQ0=0;MQRankSum=1.203;QD=13.81;ReadPosRankSum=-0.337;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HSPG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426143 GT:AD:DP:GQ:PL 0/1:8,9:17:99:265,0,212
1 22157689 rs3736355 G A 1121.67 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.16;MQ0=0;QD=29.52;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HSPG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426143 GT:AD:DP:GQ:PL 1/1:0,38:38:96.26:1155,96,0
1 22158120 rs2270701 G T 237.42 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=0.529;DB;DP=17;Dels=0.0;FS=2.077;HRun=1;HaplotypeScore=1.3123;MQ=60.0;MQ0=0;MQRankSum=-1.107;QD=13.97;ReadPosRankSum=-0.722;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HSPG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426143 GT:AD:DP:GQ:PL 0/1:8,9:17:99:267,0,245
1 22159008 rs2229487 C A 481.94 PASS AB=0.472;AC=1;AF=0.50;AN=2;BaseQRankSum=0.095;DB;DP=36;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.78;MQ0=0;MQRankSum=0.475;QD=13.39;ReadPosRankSum=-0.665;SNPEFF_AMINO_ACID_CHANGE=V3729;SNPEFF_CODON_CHANGE=gtG/gtT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_22158988_22159099;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HSPG2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000374695 GT:AD:DP:GQ:PL 0/1:17,19:36:99:512,0,506
1 22160111 rs17459139 C T 168.29 PASS AB=0.647;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.558;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.955;QD=9.9;ReadPosRankSum=-0.452;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HSPG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471322 GT:AD:DP:GQ:PL 0/1:11,6:17:99:198,0,332
1 22160148 rs7547731 C T 140.11 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.377;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.811;QD=10.78;ReadPosRankSum=-1.093;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HSPG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471322 GT:AD:DP:GQ:PL 0/1:6,7:13:99:170,0,174
1 22161275 rs2229492 G A 457.59 PASS AB=0.452;AC=1;AF=0.50;AN=2;BaseQRankSum=1.528;DB;DP=31;Dels=0.0;FS=1.468;HRun=1;HaplotypeScore=0.8667;MQ=58.5;MQ0=0;MQRankSum=0.06;QD=14.76;ReadPosRankSum=0.734;SNPEFF_AMINO_ACID_CHANGE=V3539;SNPEFF_CODON_CHANGE=gtC/gtT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_22161172_22161438;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HSPG2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000374695 GT:AD:DP:GQ:PL 0/1:14,17:31:99:488,0,346
1 22165901 rs2291826 A G 254.75 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.954;DB;DP=22;Dels=0.0;FS=1.801;HRun=1;HaplotypeScore=0.0;MQ=58.95;MQ0=0;MQRankSum=0.107;QD=11.58;ReadPosRankSum=-0.178;SNPEFF_AMINO_ACID_CHANGE=A3284;SNPEFF_CODON_CHANGE=gcT/gcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_22165864_22166043;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HSPG2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000374695 GT:AD:DP:GQ:PL 0/1:9,12:22:99:285,0,286
1 22165987 rs2291827 G A 149.13 PASS AB=0.65;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.921;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.4972;MQ=58.84;MQ0=0;MQRankSum=-0.044;QD=7.46;ReadPosRankSum=-1.272;SNPEFF_AMINO_ACID_CHANGE=H3256Y;SNPEFF_CODON_CHANGE=Cac/Tac;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_22165864_22166043;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HSPG2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000374695 GT:AD:DP:GQ:PL 0/1:13,7:20:99:179,0,401
1 22167988 rs2270697 G T 95.23 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.467;DB;DP=14;Dels=0.0;FS=2.363;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.2;QD=6.8;ReadPosRankSum=1.2;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HSPG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000430507 GT:AD:DP:GQ:PL 0/1:9,5:14:99:125,0,228
1 22168216 rs7556412 C T 218.53 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.22;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HSPG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000430507 GT:AD:DP:GQ:PL 1/1:0,7:7:18.06:251,18,0
1 22168310 rs12043008 A G 35.75 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=4.771;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=11.92;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HSPG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000430507 GT:AD:DP:GQ:PL 0/1:1,2:3:33.20:66,0,33
1 22170828 rs2270698 C G 201.28 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=1.209;DB;DP=27;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9578;MQ=60.0;MQ0=0;MQRankSum=0.18;QD=7.45;ReadPosRankSum=1.209;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HSPG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000430507 GT:AD:DP:GQ:PL 0/1:18,9:27:99:231,0,529
1 22172458 rs7355045 T C 266.08 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.66;MQ0=0;QD=26.61;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HSPG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000430507 GT:AD:DP:GQ:PL 1/1:0,10:10:24.07:299,24,0
1 22173762 rs12023884 G A 201.25 PASS AB=0.588;AC=1;AF=0.50;AN=2;BaseQRankSum=1.61;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.22;QD=11.84;ReadPosRankSum=1.61;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HSPG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000493940 GT:AD:DP:GQ:PL 0/1:10,7:17:99:231,0,289
1 22174426 rs2290501 T G 641.05 PASS AB=0.532;AC=1;AF=0.50;AN=2;BaseQRankSum=2.034;DB;DP=47;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.5424;MQ=58.51;MQ0=0;MQRankSum=0.847;QD=13.64;ReadPosRankSum=-1.44;SNPEFF_AMINO_ACID_CHANGE=Y9S;SNPEFF_CODON_CHANGE=tAc/tCc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_22174182_22174451;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HSPG2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000453796 GT:AD:DP:GQ:PL 0/1:25,22:47:99:671,0,603
1 22174600 rs3767138 A G 564.30 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.55;MQ0=0;QD=35.27;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HSPG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000493940 GT:AD:DP:GQ:PL 1/1:0,16:16:45.14:597,45,0
1 22176500 rs6658388 G T 964.35 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.601;DB;DP=77;Dels=0.0;FS=9.92;HRun=0;HaplotypeScore=0.9159;MQ=60.0;MQ0=0;MQRankSum=1.274;QD=12.52;ReadPosRankSum=-0.445;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HSPG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000493940 GT:AD:DP:GQ:PL 0/1:42,35:77:99:994,0,1232
1 22176831 rs2290500 C T 142.38 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=1.186;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=5.4297;MQ=54.25;MQ0=0;MQRankSum=2.181;QD=12.94;ReadPosRankSum=1.031;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HSPG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000493940 GT:AD:DP:GQ:PL 0/1:5,6:11:99:172,0,126
1 22179673 rs12049614 T C 134.92 PASS AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=22.49;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HSPG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374695 GT:AD:DP:GQ:PL 0/1:1,5:6:24.18:165,0,24
1 22181723 rs77060492 G C 35.77 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.026;QD=8.94;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HSPG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374695 GT:AD:DP:GQ:PL 0/1:2,2:4:65.76:66,0,71
1 22183471 rs12024579 A C 1255.04 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.41;MQ0=0;QD=32.18;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HSPG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374695 GT:AD:DP:GQ:PL 1/1:0,39:39:93.31:1288,93,0
1 22183739 rs2305562 A G 965.87 PASS AB=0.507;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.17;DB;DP=71;Dels=0.0;FS=1.986;HRun=1;HaplotypeScore=2.5528;MQ=57.08;MQ0=0;MQRankSum=0.378;QD=13.6;ReadPosRankSum=-2.178;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HSPG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374695 GT:AD:DP:GQ:PL 0/1:36,35:71:99:996,0,1129
1 22186234 rs10917056 A G 190.04 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.15;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HSPG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374695 GT:AD:DP:GQ:PL 1/1:0,7:7:18.04:223,18,0
1 22191454 rs897471 G A 137.84 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=10;Dels=0.0;FS=3.01;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.633;QD=13.78;ReadPosRankSum=-0.365;SNPEFF_AMINO_ACID_CHANGE=A1503V;SNPEFF_CODON_CHANGE=gCg/gTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_22191336_22191566;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HSPG2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000374695 GT:AD:DP:GQ:PL 0/1:4,6:10:99:168,0,125
1 22199081 rs2501266 A T 89.53 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.38;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HSPG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000498495 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:122,9,0
1 22199245 rs2229482 C T 314.98 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.5;SNPEFF_AMINO_ACID_CHANGE=V1299;SNPEFF_CODON_CHANGE=gtG/gtA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_22199113_22199253;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HSPG2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000374695 GT:AD:DP:GQ:PL 1/1:0,10:10:27.08:348,27,0
1 22199821 rs2454290 G A 3596.94 PASS AC=2;AF=1.00;AN=2;DB;DP=117;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.5784;MQ=57.18;MQ0=0;QD=30.74;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HSPG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000498495 GT:AD:DP:GQ:PL 1/1:0,116:117:99:3597,283,0
1 22200067 rs2247741 A G 436.96 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.05;MQ0=0;QD=36.41;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HSPG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000498495 GT:AD:DP:GQ:PL 1/1:0,12:12:36.12:470,36,0
1 22200082 rs2445136 T C 245.54 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.69;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HSPG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000498495 GT:AD:DP:GQ:PL 1/1:0,8:8:24.07:279,24,0
1 22200835 rs2445135 C G 152.94 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=56.04;MQ0=0;QD=25.49;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HSPG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000498495 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:186,15,0
1 22202109 rs2501265 C T 798.68 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.89;MQ0=0;QD=31.95;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HSPG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374695 GT:AD:DP:GQ:PL 1/1:0,25:25:63.21:832,63,0
1 22203259 rs2454295 A G 251.47 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.43;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HSPG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374695 GT:AD:DP:GQ:PL 1/1:0,8:8:24.05:284,24,0
1 22205408 rs2454294 T C 439.63 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.33;MQ0=0;QD=31.4;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HSPG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374695 GT:AD:DP:GQ:PL 1/1:0,14:14:36.12:473,36,0
1 22205466 rs2454293 T C 742.16 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=7;HaplotypeScore=0.0;MQ=59.11;MQ0=0;QD=28.54;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HSPG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374695 GT:AD:DP:GQ:PL 1/1:0,26:26:63.20:775,63,0
1 22206649 rs989994 T C 1130.98 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.55;MQ0=0;QD=35.34;SNPEFF_AMINO_ACID_CHANGE=N765S;SNPEFF_CODON_CHANGE=aAt/aGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_22206600_22206747;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HSPG2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000374695 GT:AD:DP:GQ:PL 1/1:0,32:32:87.28:1164,87,0
1 22206942 rs1874793 G A 561.19 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.55;MQ0=0;QD=35.07;SNPEFF_AMINO_ACID_CHANGE=A703;SNPEFF_CODON_CHANGE=gcC/gcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_22206856_22207052;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HSPG2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000374695 GT:AD:DP:GQ:PL 1/1:0,16:16:45.14:594,45,0
1 22207235 rs1874792 T C 279.37 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.94;SNPEFF_AMINO_ACID_CHANGE=M638V;SNPEFF_CODON_CHANGE=Atg/Gtg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_22207149_22207328;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HSPG2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000374695 GT:AD:DP:GQ:PL 1/1:0,10:10:24.08:312,24,0
1 22207804 rs66803368 ACCCAGGGTGGCAG A 3559.78 PASS AC=2;AF=1.00;AN=2;DB;DP=42;FS=0.0;HRun=0;HaplotypeScore=528.0074;IndelType=D;MQ=35.13;MQ0=0;QD=84.76;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HSPG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374695 GT:AD:DP:GQ:PL 1/1:11,30:42:93.32:3560,93,0
1 22208030 rs921847 C T 896.41 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=52.75;MQ0=0;QD=33.2;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HSPG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374695 GT:AD:DP:GQ:PL 1/1:0,27:27:72.22:929,72,0
1 22211222 rs4654994 T C 407.79 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.45;MQ0=0;QD=27.19;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HSPG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000412328 GT:AD:DP:GQ:PL 1/1:0,15:15:33.10:441,33,0
1 22215088 rs2445140 T C 198.42 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.07;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HSPG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000439717 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:231,18,0
1 22216574 rs2254358 C A 2297.20 PASS AC=2;AF=1.00;AN=2;DB;DP=69;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.3548;MQ=59.26;MQ0=0;QD=33.29;SNPEFF_AMINO_ACID_CHANGE=G81V;SNPEFF_CODON_CHANGE=gGg/gTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_22216474_22216634;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HSPG2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000412328 GT:AD:DP:GQ:PL 1/1:0,69:69:99:2330,181,0
1 22216604 rs2254357 C G 2421.77 PASS AC=2;AF=1.00;AN=2;DB;DP=78;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.5226;MQ=59.35;MQ0=0;QD=31.05;SNPEFF_AMINO_ACID_CHANGE=W71S;SNPEFF_CODON_CHANGE=tGg/tCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_22216474_22216634;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HSPG2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000412328 GT:AD:DP:GQ:PL 1/1:0,77:78:99:2455,193,0
1 22217108 rs2501260 G A 4900.74 PASS AC=2;AF=1.00;AN=2;DB;DP=171;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.5784;MQ=58.97;MQ0=0;QD=28.66;SNPEFF_AMINO_ACID_CHANGE=F108;SNPEFF_CODON_CHANGE=ttC/ttT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_22217078_22217187;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HSPG2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000374695 GT:AD:DP:GQ:PL 1/1:0,171:171:99:4901,370,0
1 22299656 rs4233282 T G 274.83 PASS AB=0.45;AC=1;AF=0.50;AN=2;BaseQRankSum=0.076;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=42.14;MQ0=0;MQRankSum=1.899;QD=13.74;ReadPosRankSum=0.988;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELA3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000337107 GT:AD:DP:GQ:PL 0/1:9,11:20:99:305,0,224
1 22307216 rs113430470 G C 135.49 PASS AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=51.77;MQ0=0;MQRankSum=0.736;QD=22.58;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELA3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000337107 GT:AD:DP:GQ:PL 0/1:1,5:6:15.38:165,0,15
1 22307340 rs7528228 C T 165.89 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=0.292;DB;DP=40;Dels=0.0;FS=14.137;HRun=0;HaplotypeScore=1.7128;MQ=48.54;MQ0=3;MQRankSum=-4.274;QD=4.15;ReadPosRankSum=0.365;SNPEFF_AMINO_ACID_CHANGE=S51;SNPEFF_CODON_CHANGE=agC/agT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_22307317_22307414;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELA3B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000337107 GT:AD:DP:GQ:PL 0/1:28,12:40:99:196,0,788
1 22307358 rs7528300 C G 97.93 PASS AB=0.738;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.919;DB;DP=42;Dels=0.0;FS=15.64;HRun=0;HaplotypeScore=4.6666;MQ=49.76;MQ0=3;MQRankSum=-3.917;QD=2.33;ReadPosRankSum=2.998;SNPEFF_AMINO_ACID_CHANGE=T57;SNPEFF_CODON_CHANGE=acC/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_22307317_22307414;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELA3B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000337107 GT:AD:DP:GQ:PL 0/1:31,11:42:99:128,0,944
1 22307538 rs7528405 C T 1717.97 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.76;MQ0=0;QD=35.06;SNPEFF_AMINO_ACID_CHANGE=R79W;SNPEFF_CODON_CHANGE=Cgg/Tgg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_22307531_22307665;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELA3B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000337107 GT:AD:DP:GQ:PL 1/1:0,49:49:99:1751,132,0
1 22307680 rs143622107 C T 832.45 PASS AB=0.516;AC=1;AF=0.50;AN=2;BaseQRankSum=3.616;DB;DP=66;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.9715;MQ=56.31;MQ0=2;MQRankSum=1.721;QD=12.61;ReadPosRankSum=-0.099;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELA3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000337107 GT:AD:DP:GQ:PL 0/1:33,31:66:99:862,0,722
1 22307743 rs6689384 T C 65.76 PASS AB=0.68;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.176;DB;DP=25;Dels=0.0;FS=6.435;HRun=0;HaplotypeScore=0.0;MQ=56.81;MQ0=1;MQRankSum=0.635;QD=2.63;ReadPosRankSum=-1.969;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELA3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000337107 GT:AD:DP:GQ:PL 0/1:17,8:25:95.76:96,0,646
1 22307829 rs7542585 A C 80.61 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=44.84;MQ0=1;QD=20.15;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELA3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000337107 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:113,9,0
1 22309957 rs12023741 T C 51.16 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.46;MQ0=0;QD=25.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELA3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000337107 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
1 22310041 . A AATG 210.41 PASS AB=0.632;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.067;DP=11;FS=0.0;HRun=0;HaplotypeScore=107.0504;IndelType=I;MQ=47.84;MQ0=0;MQRankSum=1.589;QD=17.53;ReadPosRankSum=-0.572;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELA3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000337107 GT:AD:DP:GQ:PL 0/1:5,4:11:56.41:249,0,56
1 22310080 rs10799723 G A 661.64 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=50.8;MQ0=0;QD=30.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELA3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000337107 GT:AD:DP:GQ:PL 1/1:0,22:22:57.17:695,57,0
1 22310139 rs10733031 T G 541.31 PASS AB=0.588;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.265;DB;DP=68;Dels=0.0;FS=1.286;HRun=0;HaplotypeScore=1.748;MQ=46.36;MQ0=1;MQRankSum=-0.233;QD=7.96;ReadPosRankSum=-0.632;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELA3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000337107 GT:AD:DP:GQ:PL 0/1:40,28:68:99:571,0,1180
1 22310145 rs10733032 C T 713.87 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=1.222;DB;DP=72;Dels=0.0;FS=1.208;HRun=0;HaplotypeScore=0.734;MQ=46.53;MQ0=1;MQRankSum=-0.845;QD=9.91;ReadPosRankSum=-0.383;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELA3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000337107 GT:AD:DP:GQ:PL 0/1:42,30:72:99:744,0,1219
1 22310262 rs10733033 G C 3023.14 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.243;DB;DP=115;Dels=0.0;FS=3.096;HRun=2;HaplotypeScore=1.811;MQ=41.57;MQ0=3;MQRankSum=-1.473;QD=26.29;ReadPosRankSum=0.89;SNPEFF_AMINO_ACID_CHANGE=P146;SNPEFF_CODON_CHANGE=ccG/ccC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_22310187_22310323;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELA3B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000337107 GT:AD:DP:GQ:PL 1/1:1,114:115:99:3056,227,0
1 22310411 rs28468423 A G 248.09 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.412;DB;DP=28;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=40.9;MQ0=1;MQRankSum=-2.645;QD=8.86;ReadPosRankSum=-0.073;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELA3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374666 GT:AD:DP:GQ:PL 0/1:14,14:28:99:278,0,452
1 22310413 rs7549398 A G 278.57 PASS AB=0.481;AC=1;AF=0.50;AN=2;BaseQRankSum=2.974;DB;DP=27;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=42.63;MQ0=0;MQRankSum=-2.615;QD=10.32;ReadPosRankSum=-0.051;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELA3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374666 GT:AD:DP:GQ:PL 0/1:13,14:27:99:309,0,390
1 22310662 rs6426735 G T 436.89 PASS AB=0.66;AC=1;AF=0.50;AN=2;BaseQRankSum=0.865;DB;DP=47;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7256;MQ=58.73;MQ0=0;MQRankSum=1.15;QD=9.1;ReadPosRankSum=0.154;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELA3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374666 GT:AD:DP:GQ:PL 0/1:31,16:47:99:467,0,936
1 22310674 rs7538207 C T 478.95 PASS AB=0.66;AC=1;AF=0.50;AN=2;BaseQRankSum=2.715;DB;DP=50;Dels=0.0;FS=4.638;HRun=1;HaplotypeScore=0.9916;MQ=58.78;MQ0=0;MQRankSum=0.154;QD=9.58;ReadPosRankSum=1.245;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELA3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374666 GT:AD:DP:GQ:PL 0/1:33,17:50:99:509,0,781
1 22310725 rs3820287 G C 427.51 PASS AB=0.604;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.394;DB;DP=48;Dels=0.0;FS=2.529;HRun=2;HaplotypeScore=0.0;MQ=55.16;MQ0=0;MQRankSum=-0.439;QD=8.91;ReadPosRankSum=-0.551;SNPEFF_AMINO_ACID_CHANGE=P181;SNPEFF_CODON_CHANGE=ccG/ccC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_22310682_22310824;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELA3B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000337107 GT:AD:DP:GQ:PL 0/1:29,19:48:99:458,0,847
1 22310811 rs112944567 G A 446.47 PASS AB=0.432;AC=1;AF=0.50;AN=2;BaseQRankSum=0.694;DB;DP=38;Dels=0.0;FS=5.188;HRun=0;HaplotypeScore=1.6988;MQ=44.33;MQ0=3;MQRankSum=0.139;QD=11.75;ReadPosRankSum=-0.902;SNPEFF_AMINO_ACID_CHANGE=R113H;SNPEFF_CODON_CHANGE=cGc/cAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_22310682_22310824;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELA3B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000400277 GT:AD:DP:GQ:PL 0/1:16,21:38:99:476,0,448
1 22310824 rs1803531 T C 804.65 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=41.5;MQ0=3;QD=25.96;SNPEFF_AMINO_ACID_CHANGE=N117;SNPEFF_CODON_CHANGE=aaT/aaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_22310682_22310824;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELA3B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000400277 GT:AD:DP:GQ:PL 1/1:0,31:31:72.18:838,72,0
1 22310933 rs12130164 C G 173.11 MQFilter40 AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.597;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=27.87;MQ0=3;MQRankSum=-0.278;QD=11.54;ReadPosRankSum=-0.597;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELA3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374666 GT:AD:DP:GQ:PL 0/1:6,9:15:95.98:203,0,96
1 22311011 rs12122445 G A 61.14 MQFilter40 AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=33.38;MQ0=0;MQRankSum=-1.231;QD=12.23;ReadPosRankSum=0.358;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELA3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374666 GT:AD:DP:GQ:PL 0/1:2,3:5:63.58:91,0,64
1 22311059 rs12122466 G C 33.73 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=43.73;MQ0=0;MQRankSum=-0.736;QD=11.24;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELA3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374666 GT:AD:DP:GQ:PL 0/1:1,2:3:27.95:64,0,28
1 22313103 rs114895362 C G 203.91 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.386;DB;DP=33;Dels=0.0;FS=1.533;HRun=1;HaplotypeScore=0.0;MQ=54.7;MQ0=0;MQRankSum=1.85;QD=6.18;ReadPosRankSum=-0.386;SNPEFF_AMINO_ACID_CHANGE=A144G;SNPEFF_CODON_CHANGE=gCc/gGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_22313024_22313176;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELA3B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000400277 GT:AD:DP:GQ:PL 0/1:22,11:33:99:234,0,773
1 22313161 rs1803530 T C 622.95 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=45.05;MQ0=0;QD=25.96;SNPEFF_AMINO_ACID_CHANGE=I163;SNPEFF_CODON_CHANGE=atT/atC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_22313024_22313176;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELA3B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000400277 GT:AD:DP:GQ:PL 1/1:0,23:24:54.16:656,54,0
1 22313197 rs34963341 C A 292.76 MQFilter40 AB=0.313;AC=1;AF=0.50;AN=2;BaseQRankSum=2.606;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=39.9;MQ0=0;MQRankSum=-0.793;QD=18.3;ReadPosRankSum=0.34;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELA3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374666 GT:AD:DP:GQ:PL 0/1:5,11:16:99:323,0,128
1 22315662 rs12082371 C T 84.94 MQFilter40 AB=0.682;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.718;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=23.33;MQ0=3;MQRankSum=-0.465;QD=3.86;ReadPosRankSum=-1.733;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELA3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000337107 GT:AD:DP:GQ:PL 0/1:15,7:22:99:115,0,274
1 22329414 rs10917107 G A 413.87 PASS AB=0.077;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.134;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.55;MQ0=0;MQRankSum=0.668;QD=31.84;ReadPosRankSum=-1.737;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELA3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000400277 GT:AD:DP:GQ:PL 0/1:1,12:13:1.52:443,0,2
1 22331822 rs59210655 C T 36.47 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.296;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9578;MQ=49.88;MQ0=1;MQRankSum=-2.166;QD=3.32;ReadPosRankSum=0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELA3A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000290122 GT:AD:DP:GQ:PL 0/1:7,4:11:66.47:66,0,221
1 22331829 rs57093046 C A 33.46 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=0.296;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=49.88;MQ0=1;MQRankSum=-2.166;QD=3.04;ReadPosRankSum=0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELA3A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000290122 GT:AD:DP:GQ:PL 0/1:7,4:11:63.46:63,0,259
1 22332008 rs56968853 T C 154.16 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.927;DB;DP=40;Dels=0.0;FS=6.513;HRun=0;HaplotypeScore=0.0;MQ=54.78;MQ0=1;MQRankSum=-1.854;QD=3.85;ReadPosRankSum=1.099;SNPEFF_AMINO_ACID_CHANGE=D66;SNPEFF_CODON_CHANGE=gaT/gaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_22331940_22332037;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELA3A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000290122 GT:AD:DP:GQ:PL 0/1:30,10:40:99:184,0,949
1 22332319 rs76548941 G A 108.18 PASS AB=0.806;AC=1;AF=0.50;AN=2;BaseQRankSum=0.766;DB;DP=37;Dels=0.0;FS=4.099;HRun=0;HaplotypeScore=3.0477;MQ=55.92;MQ0=1;MQRankSum=-3.83;QD=2.92;ReadPosRankSum=-1.422;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELA3A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000290122 GT:AD:DP:GQ:PL 0/1:29,7:37:99:138,0,894
1 22332332 rs74922245 T C 72.40 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.687;DB;DP=36;Dels=0.0;FS=8.076;HRun=0;HaplotypeScore=1.5115;MQ=54.36;MQ0=1;MQRankSum=-4.262;QD=2.01;ReadPosRankSum=-0.766;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELA3A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000290122 GT:AD:DP:GQ:PL 0/1:27,9:36:99:102,0,787
1 22332333 rs76102053 G A 70.80 QDFilter2 AB=0.778;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.043;DB;DP=36;Dels=0.0;FS=8.243;HRun=0;HaplotypeScore=1.5115;MQ=54.36;MQ0=1;MQRankSum=-4.046;QD=1.97;ReadPosRankSum=-0.469;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELA3A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000290122 GT:AD:DP:GQ:PL 0/1:28,8:36:99:101,0,788
1 22332411 rs61778015 A G 78.47 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=1.059;DB;DP=16;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.9995;MQ=48.89;MQ0=0;MQRankSum=-3.387;QD=4.9;ReadPosRankSum=-1.482;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELA3A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000290122 GT:AD:DP:GQ:PL 0/1:9,7:16:99:108,0,333
1 22333538 rs11583776 A G 239.32 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=29.06;MQ0=2;QD=19.94;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELA3A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374661 GT:AD:DP:GQ:PL 1/1:0,12:12:24.06:272,24,0
1 22333595 rs3820290 G A 187 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=43.66;MQ0=3;QD=18.7;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELA3A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374661 GT:AD:DP:GQ:PL 1/1:1,9:10:18.05:220,18,0
1 22336277 rs3820285 C G 665.74 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.36;MQ0=0;QD=28.95;SNPEFF_AMINO_ACID_CHANGE=A241G;SNPEFF_CODON_CHANGE=gCc/gGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_22336198_22336350;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELA3A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000290122 GT:AD:DP:GQ:PL 1/1:0,23:23:51.17:699,51,0
1 22336371 rs3806297 C A 334.75 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=45.95;MQ0=0;QD=27.9;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELA3A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374661 GT:AD:DP:GQ:PL 1/1:0,12:12:30.08:368,30,0
1 22408106 rs2501282 G A 407.23 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.55;MQ0=0;QD=31.33;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC42;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315554 GT:AD:DP:GQ:PL 1/1:0,13:13:36.11:440,36,0
1 22408465 rs2056976 C T 91.07 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC42;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315554 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:123,9,0
1 22447523 rs10753529 G A 52.22 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=13.06;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WNT4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000290167 GT:AD:DP:GQ:PL 1/1:0,3:4:6.02:83,6,0
1 22447645 rs41420150 C CTG 733.08 PASS AC=2;AF=1.00;AN=2;DB;DP=16;FS=0.0;HRun=0;HaplotypeScore=43.1923;IndelType=I;MQ=62.65;MQ0=0;QD=45.82;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WNT4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000290167 GT:AD:DP:GQ:PL 1/1:1,13:16:45.15:775,45,0
1 22816262 rs1267005 T C 235.30 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.61;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZBTB40;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374649 GT:AD:DP:GQ:PL 1/1:0,7:7:21.05:268,21,0
1 22817717 rs12566074 A G 37.98 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.026;QD=9.49;ReadPosRankSum=-1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZBTB40;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374649 GT:AD:DP:GQ:PL 0/1:2,2:4:66.17:68,0,66
1 22827931 rs4655071 C T 294.06 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.524;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.471;QD=11.76;ReadPosRankSum=0.86;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZBTB40;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374649 GT:AD:DP:GQ:PL 0/1:10,15:25:99:324,0,331
1 22832743 rs209732 A T 1581.40 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.56;MQ0=0;QD=29.84;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZBTB40;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374649 GT:AD:DP:GQ:PL 1/1:0,53:53:99:1614,120,0
1 22835677 rs209729 A G 2845.62 PASS AC=2;AF=1.00;AN=2;DB;DP=74;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.69;MQ0=0;QD=38.45;SNPEFF_AMINO_ACID_CHANGE=Y483C;SNPEFF_CODON_CHANGE=tAc/tGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_22835593_22835726;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZBTB40;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000374651 GT:AD:DP:GQ:PL 1/1:0,74:74:99:2879,211,0
1 22837586 rs66892436 CT C 203.03 PASS AB=0.662;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.018;DB;DP=50;FS=3.047;HRun=17;HaplotypeScore=381.8928;IndelType=D;MQ=55.17;MQ0=0;MQRankSum=-1.041;QD=3.98;ReadPosRankSum=1.004;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZBTB40;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000400239 GT:AD:DP:GQ:PL 0/1:25,20:50:99:242,0,132
1 22837849 rs209727 C T 681.57 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=4.394;DB;DP=35;Dels=0.0;FS=3.979;HRun=0;HaplotypeScore=0.5784;MQ=59.34;MQ0=0;MQRankSum=-0.354;QD=19.47;ReadPosRankSum=0.152;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZBTB40;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374651 GT:AD:DP:GQ:PL 0/1:14,21:35:99:712,0,389
1 22837944 rs2073168 T C 64.75 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=0.684;DB;DP=8;Dels=0.0;FS=4.26;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.221;QD=8.09;ReadPosRankSum=0.684;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZBTB40;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374651 GT:AD:DP:GQ:PL 0/1:5,3:8:94.74:95,0,174
1 22846452 rs7551801 C G 687.73 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.284;DB;DP=45;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=-0.785;QD=15.28;ReadPosRankSum=1.308;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZBTB40;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374651 GT:AD:DP:GQ:PL 0/1:24,21:45:99:718,0,853
1 22846709 rs209720 G A 1944.40 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.57;MQ0=0;QD=36.01;SNPEFF_AMINO_ACID_CHANGE=V885M;SNPEFF_CODON_CHANGE=Gtg/Atg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_22846554_22846768;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZBTB40;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000374651 GT:AD:DP:GQ:PL 1/1:0,54:54:99:1977,150,0
1 22848972 rs61769198 A C 957.08 PASS AB=0.53;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.696;DB;DP=83;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.7594;MQ=59.72;MQ0=0;MQRankSum=0.741;QD=11.53;ReadPosRankSum=1.222;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZBTB40;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374651 GT:AD:DP:GQ:PL 0/1:44,39:83:99:987,0,1301
1 22849003 rs998978 A C 856.93 PASS AB=0.492;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.296;DB;DP=61;Dels=0.0;FS=1.719;HRun=0;HaplotypeScore=2.8112;MQ=60.0;MQ0=0;MQRankSum=1.176;QD=14.05;ReadPosRankSum=0.368;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZBTB40;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374651 GT:AD:DP:GQ:PL 0/1:30,31:61:99:887,0,902
1 22852715 rs881646 G C 540.57 PASS AB=0.547;AC=1;AF=0.50;AN=2;BaseQRankSum=0.751;DB;DP=53;Dels=0.0;FS=1.145;HRun=2;HaplotypeScore=2.5395;MQ=59.56;MQ0=0;MQRankSum=0.086;QD=10.2;ReadPosRankSum=0.542;SNPEFF_AMINO_ACID_CHANGE=P1070;SNPEFF_CODON_CHANGE=ccG/ccC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_22852695_22853855;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZBTB40;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000374651 GT:AD:DP:GQ:PL 0/1:29,24:53:99:571,0,801
1 22853141 rs2281354 G A 51 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.5;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZBTB40;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374651 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
1 22912819 rs639519 T C 194.35 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.39;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPHA8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000166244 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:227,18,0
1 22924783 rs11586741 C T 595.38 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.02;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPHA8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000166244 GT:AD:DP:GQ:PL 1/1:0,17:17:48.15:628,48,0
1 22925292 rs664340 C G 229.06 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.45;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPHA8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000166244 GT:AD:DP:GQ:PL 1/1:0,9:9:21.07:262,21,0
1 22965438 rs172378 A G 523.32 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.17;SNPEFF_AMINO_ACID_CHANGE=E90G;SNPEFF_CODON_CHANGE=gAg/gGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_22965362_22965442;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1QA;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000339353 GT:AD:DP:GQ:PL 1/1:0,20:20:42.14:556,42,0
1 22970642 rs80083522 C T 164.45 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.04;MQ0=0;QD=27.41;SNPEFF_AMINO_ACID_CHANGE=P42;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_22970504_22970697;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1QC;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000374637 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:197,15,0
1 22974297 rs9434 C A 665.13 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.94;MQ0=0;QD=27.71;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1QB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000510260 GT:AD:DP:GQ:PL 1/1:0,23:24:57.17:698,57,0
1 22985839 rs140338008 AGATG A 511.14 PASS AC=2;AF=1.00;AN=2;DB;DP=17;FS=0.0;HRun=0;HaplotypeScore=122.5335;IndelType=D;MQ=56.39;MQ0=0;QD=30.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1QB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000314933 GT:AD:DP:GQ:PL 1/1:5,12:17:36.12:553,36,0
1 22987958 rs10580 A G 537.45 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=47.98;MQ0=0;QD=31.61;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1QB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000432749 GT:AD:DP:GQ:PL 1/1:0,17:17:45.14:570,45,0
1 23075545 rs2218194 A C 458.84 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.63;MQ0=0;QD=26.99;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPHB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374625 GT:AD:DP:GQ:PL 1/1:0,17:17:39.12:492,39,0
1 23101688 rs1561624 T G 644.77 PASS AB=0.649;AC=1;AF=0.50;AN=2;BaseQRankSum=2.508;DB;DP=74;Dels=0.0;FS=0.929;HRun=0;HaplotypeScore=1.565;MQ=59.69;MQ0=0;MQRankSum=0.266;QD=8.71;ReadPosRankSum=-1.342;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPHB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374625 GT:AD:DP:GQ:PL 0/1:48,26:74:99:675,0,1394
1 23108089 rs2817904 A G 36.20 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.231;QD=7.24;ReadPosRankSum=0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPHB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374625 GT:AD:DP:GQ:PL 0/1:3,2:5:66.19:66,0,110
1 23208720 rs309485 C G 69.39 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=0.55;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=8.67;ReadPosRankSum=-0.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPHB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374625 GT:AD:DP:GQ:PL 0/1:5,3:8:99:99,0,134
1 23208925 rs36069879 G A 574.08 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=3.404;DB;DP=63;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7883;MQ=60.0;MQ0=0;MQRankSum=-1.509;QD=9.11;ReadPosRankSum=1.742;SNPEFF_AMINO_ACID_CHANGE=P453;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_23208852_23208976;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPHB2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000374627 GT:AD:DP:GQ:PL 0/1:42,21:63:99:604,0,1162
1 23219493 rs309472 T C 1324.79 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9947;MQ=59.44;MQ0=0;QD=32.31;SNPEFF_AMINO_ACID_CHANGE=G510;SNPEFF_CODON_CHANGE=ggT/ggC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_23219374_23219539;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPHB2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000374627 GT:AD:DP:GQ:PL 1/1:0,41:41:99:1358,105,0
1 23232400 rs309502 C T 696.73 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.71;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPHB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374625 GT:AD:DP:GQ:PL 1/1:0,18:18:54.18:730,54,0
1 23233600 rs309500 A G 45.44 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=15.15;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPHB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374625 GT:AD:DP:GQ:PL 0/1:1,2:3:32.20:75,0,32
1 23236826 rs309497 C T 256.91 PASS AB=0.474;AC=1;AF=0.50;AN=2;BaseQRankSum=0.367;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=2.327;QD=13.52;ReadPosRankSum=-0.694;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPHB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374625 GT:AD:DP:GQ:PL 0/1:9,10:19:99:287,0,271
1 23285678 rs309510 A G 83.53 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.84;SNPEFF_EFFECT=INTRAGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LACTBL1;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:116,9,0
1 23286224 rs11577583 T C 145.95 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.19;SNPEFF_EFFECT=INTRAGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LACTBL1;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:179,15,0
1 23286752 rs751168 T G 85.97 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.66;SNPEFF_EFFECT=INTRAGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LACTBL1;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:118,9,0
1 23289568 rs10799777 T C 208.91 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.84;SNPEFF_EFFECT=INTRAGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LACTBL1;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 1/1:0,7:7:18.05:242,18,0
1 23380198 rs579785 A G 495.83 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KDM1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356634 GT:AD:DP:GQ:PL 1/1:0,13:13:39.13:529,39,0
1 23381795 rs11380187 A AT 246.14 PASS AC=2;AF=1.00;AN=2;DB;DP=6;FS=0.0;HRun=2;HaplotypeScore=10.9916;IndelType=I;MQ=60.0;MQ0=0;QD=41.02;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KDM1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356634 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:288,18,0
1 23399932 rs967605 C T 2199.44 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.84;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KDM1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356634 GT:AD:DP:GQ:PL 1/1:0,65:65:99:2232,163,0
1 23405794 rs2072945 A C 492.56 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.55;MQ0=0;QD=30.78;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LUZP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302291 GT:AD:DP:GQ:PL 1/1:0,16:16:45.11:526,45,0
1 23405872 rs2072944 T C 727.06 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.35;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LUZP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302291 GT:AD:DP:GQ:PL 1/1:0,20:20:57.18:760,57,0
1 23407712 rs2072943 G C 133.05 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.26;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KDM1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465864 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:166,12,0
1 23409538 rs2235546 G A 123.94 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=53.95;MQ0=0;QD=30.98;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KDM1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465864 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:156,12,0
1 23418153 rs10799790 C T 2128.39 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9998;MQ=60.0;MQ0=0;QD=34.33;SNPEFF_AMINO_ACID_CHANGE=D868N;SNPEFF_CODON_CHANGE=Gac/Aac;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_23417683_23420873;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LUZP1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000302291 GT:AD:DP:GQ:PL 1/1:0,62:62:99:2161,163,0
1 23419261 rs477717 G A 4787.82 PASS AC=2;AF=1.00;AN=2;DB;DP=146;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=59.84;MQ0=0;QD=32.79;SNPEFF_AMINO_ACID_CHANGE=S498;SNPEFF_CODON_CHANGE=agC/agT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_23417683_23420873;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LUZP1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000302291 GT:AD:DP:GQ:PL 1/1:0,146:146:99:4788,364,0
1 23419374 rs3765407 G T 5269.75 PASS AC=2;AF=1.00;AN=2;DB;DP=154;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=4.1652;MQ=58.79;MQ0=0;QD=34.22;SNPEFF_AMINO_ACID_CHANGE=Q461K;SNPEFF_CODON_CHANGE=Cag/Aag;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_23417683_23420873;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LUZP1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000302291 GT:AD:DP:GQ:PL 1/1:0,154:154:99:5270,415,0
1 23419383 rs477830 C T 5726.17 PASS AC=2;AF=1.00;AN=2;DB;DP=153;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.4998;MQ=58.94;MQ0=0;QD=37.43;SNPEFF_AMINO_ACID_CHANGE=G458S;SNPEFF_CODON_CHANGE=Ggc/Agc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_23417683_23420873;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LUZP1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000302291 GT:AD:DP:GQ:PL 1/1:0,153:153:99:5726,427,0
1 23419855 rs1983965 T C 3770.70 PASS AC=2;AF=1.00;AN=2;DB;DP=114;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.08;SNPEFF_AMINO_ACID_CHANGE=T300;SNPEFF_CODON_CHANGE=acA/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_23417683_23420873;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LUZP1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000302291 GT:AD:DP:GQ:PL 1/1:0,114:114:99:3771,286,0
1 23688933 rs2849028 A G 1757.81 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.96;SNPEFF_AMINO_ACID_CHANGE=N314;SNPEFF_CODON_CHANGE=aaT/aaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_23685941_23689714;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF436;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000314011 GT:AD:DP:GQ:PL 1/1:0,55:55:99:1791,132,0
1 23693422 rs2849025 T C 456.18 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.02;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF436;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000314011 GT:AD:DP:GQ:PL 1/1:0,12:12:36.12:489,36,0
1 23695671 . C CG 113.08 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.922;DP=8;FS=0.0;HRun=8;HaplotypeScore=24.0277;IndelType=I;MQ=60.0;MQ0=0;MQRankSum=0.198;QD=14.14;ReadPosRankSum=-1.495;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF436;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000314011 GT:AD:DP:GQ:PL 0/1:3,5:8:33.88:152,0,34
1 23696152 rs665977 G A 1239.11 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.963;DB;DP=36;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9996;MQ=59.36;MQ0=0;MQRankSum=0.096;QD=34.42;ReadPosRankSum=1.444;SNPEFF_AMINO_ACID_CHANGE=R121Q;SNPEFF_CODON_CHANGE=cGa/cAa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_23695729_23698275;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C1orf213;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000335648 GT:AD:DP:GQ:PL 1/1:1,35:36:66.71:1272,67,0
1 23707692 rs650102 A G 84.20 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.44;MQ0=0;QD=28.07;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TCEA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000476978 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:116,9,0
1 23710805 rs605468 A G 3905.18 PASS AC=2;AF=1.00;AN=2;DB;DP=111;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.79;MQ0=0;QD=35.18;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TCEA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000450454 GT:AD:DP:GQ:PL 1/1:0,111:111:99:3905,295,0
1 23713626 rs1198445 A G 175.66 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.62;MQ0=0;QD=25.09;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TCEA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000450454 GT:AD:DP:GQ:PL 1/1:0,7:7:18.05:209,18,0
1 23713952 rs676363 T G 209.37 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TCEA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000450454 GT:AD:DP:GQ:PL 1/1:0,7:7:18.06:242,18,0
1 23720185 rs4648892 C T 48.72 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TCEA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000450454 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:80,6,0
1 23720260 rs2486078 T G 299.23 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.25;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TCEA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000450454 GT:AD:DP:GQ:PL 1/1:0,9:9:27.08:332,27,0
1 23724183 rs2275355 C T 2423.40 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9468;MQ=59.66;MQ0=0;QD=35.64;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TCEA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000450454 GT:AD:DP:GQ:PL 1/1:0,68:68:99:2456,184,0
1 23735241 rs1198423 G T 122.45 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.21;MQ0=0;QD=24.49;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TCEA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374601 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:155,12,0
1 23743581 rs2156087 C G 339.88 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.99;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TCEA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000492271 GT:AD:DP:GQ:PL 1/1:0,10:10:27.09:373,27,0
1 23744169 rs3795295 A G 31.47 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=10.49;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TCEA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374601 GT:AD:DP:GQ:PL 0/1:1,2:3:33.62:61,0,34
1 23751140 rs71514235 G T 1570.88 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.81;MQ0=0;QD=30.8;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASAP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336689 GT:AD:DP:GQ:PL 1/1:0,50:50:99:1604,120,0
1 23756155 rs1198432 T C 49.99 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASAP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374579 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
1 23758134 rs1198434 A G 694.48 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=57.46;MQ0=0;QD=26.71;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASAP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374579 GT:AD:DP:GQ:PL 1/1:0,25:26:54.17:727,54,0
1 23760408 rs1207124 A G 46.97 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.48;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASAP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475814 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:78,6,0
1 23762679 rs12401753 A G 318.30 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.37;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASAP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475814 GT:AD:DP:GQ:PL 1/1:0,9:9:27.08:351,27,0
1 23764149 rs2297841 C G 115.91 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.98;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASAP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478858 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:148,12,0
1 23765472 rs1767148 A G 198.96 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.16;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASAP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478858 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:232,18,0
1 23836364 rs2075993 A G 138.77 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.067;DB;DP=9;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.572;QD=15.42;ReadPosRankSum=1.067;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=E2F2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361729 GT:AD:DP:GQ:PL 0/1:3,6:9:55.75:169,0,56
1 23847464 rs2075995 C A 538.14 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.538;DB;DP=45;Dels=0.0;FS=1.238;HRun=0;HaplotypeScore=0.0;MQ=59.49;MQ0=0;MQRankSum=-0.164;QD=11.96;ReadPosRankSum=-0.07;SNPEFF_AMINO_ACID_CHANGE=Q226H;SNPEFF_CODON_CHANGE=caG/caT;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_23847405_23847563;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=E2F2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000361729 GT:AD:DP:GQ:PL 0/1:21,24:45:99:568,0,573
1 23885498 rs11574 T C 224.31 PASS AB=0.63;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.828;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=59.14;MQ0=0;MQRankSum=0.979;QD=8.31;ReadPosRankSum=0.126;SNPEFF_AMINO_ACID_CHANGE=T105A;SNPEFF_CODON_CHANGE=Act/Gct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_23885426_23885510;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ID3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000374561 GT:AD:DP:GQ:PL 0/1:17,10:27:99:254,0,541
1 23885599 rs2067053 T C 343.32 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=1.326;DB;DP=39;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.7887;MQ=59.41;MQ0=0;MQRankSum=0.372;QD=8.8;ReadPosRankSum=-0.462;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ID3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374561 GT:AD:DP:GQ:PL 0/1:26,13:39:99:373,0,836
1 23965517 rs61777309 G A 74.58 PASS AB=0.688;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.133;DB;DP=16;Dels=0.0;FS=5.74;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.227;QD=4.66;ReadPosRankSum=1.246;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MDS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374555 GT:AD:DP:GQ:PL 0/1:11,5:16:99:105,0,381
1 23965704 rs10917403 A C 1095.70 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=3.79;DB;DP=84;Dels=0.0;FS=2.997;HRun=0;HaplotypeScore=0.9332;MQ=59.73;MQ0=0;MQRankSum=-0.326;QD=13.04;ReadPosRankSum=-0.106;SNPEFF_AMINO_ACID_CHANGE=N37H;SNPEFF_CODON_CHANGE=Aat/Cat;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_23965599_23965741;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MDS2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000374555 GT:AD:DP:GQ:PL 0/1:48,36:84:99:1126,0,1559
1 23965829 rs10917404 C T 610.93 PASS AB=0.488;AC=1;AF=0.50;AN=2;BaseQRankSum=4.29;DB;DP=42;Dels=0.0;FS=6.332;HRun=0;HaplotypeScore=0.7887;MQ=59.45;MQ0=0;MQRankSum=-0.9;QD=14.55;ReadPosRankSum=-0.796;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MDS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374555 GT:AD:DP:GQ:PL 0/1:20,21:42:99:641,0,547
1 23966837 rs1317329 C T 521.65 PASS AB=0.424;AC=1;AF=0.50;AN=2;BaseQRankSum=2.032;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.26;MQ0=0;MQRankSum=1.387;QD=15.81;ReadPosRankSum=1.197;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MDS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374555 GT:AD:DP:GQ:PL 0/1:14,19:33:99:552,0,407
1 23966894 rs3072132 T TAAG 950.43 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.883;DB;DP=34;FS=11.504;HRun=0;HaplotypeScore=126.0392;IndelType=I;MQ=59.28;MQ0=0;MQRankSum=-1.711;QD=27.95;ReadPosRankSum=0.234;SNPEFF_AMINO_ACID_CHANGE=V93VR;SNPEFF_CODON_CHANGE=gta/gtAAGa;SNPEFF_EFFECT=CODON_INSERTION;SNPEFF_EXON_ID=exon_1_23966879_23967058;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MDS2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000374555 GT:AD:DP:GQ:PL 0/1:17,17:34:99:989,0,643
1 24018224 rs3753270 C T 257.72 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.766;DB;DP=18;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.442;QD=14.32;ReadPosRankSum=-0.088;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RPL11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374550 GT:AD:DP:GQ:PL 0/1:9,9:18:99:288,0,314
1 24018277 rs10917413 C G 876.59 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.06;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_1_24018269_24018319;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RPL11;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000374550 GT:AD:DP:GQ:PL 1/1:0,25:25:69.20:910,69,0
1 24018953 rs78796509 T C 162.26 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=2.424;DB;DP=13;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.377;QD=12.48;ReadPosRankSum=-0.101;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RPL11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374550 GT:AD:DP:GQ:PL 0/1:7,6:13:99:192,0,229
1 24018965 rs79924731 T G 238.40 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=0.372;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.289;QD=11.92;ReadPosRankSum=1.115;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RPL11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374550 GT:AD:DP:GQ:PL 0/1:12,8:20:99:268,0,379
1 24018999 rs114249836 T C 292.47 PASS AB=0.56;AC=1;AF=0.50;AN=2;BaseQRankSum=1.013;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.356;QD=11.7;ReadPosRankSum=-0.027;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RPL11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374550 GT:AD:DP:GQ:PL 0/1:14,11:25:99:322,0,492
1 24020470 rs2271996 A G 87.83 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=1.164;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.2433;MQ=60.0;MQ0=0;MQRankSum=0.306;QD=5.86;ReadPosRankSum=0.061;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RPL11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467075 GT:AD:DP:GQ:PL 0/1:10,5:15:99:118,0,348
1 24022104 rs10799803 C T 288.34 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.04;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RPL11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443624 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:321,24,0
1 24022437 rs2280437 A G 1329.99 PASS AB=0.495;AC=1;AF=0.50;AN=2;BaseQRankSum=1.369;DB;DP=91;Dels=0.0;FS=1.733;HRun=1;HaplotypeScore=0.9916;MQ=59.75;MQ0=0;MQRankSum=1.044;QD=14.62;ReadPosRankSum=-0.663;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RPL11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443624 GT:AD:DP:GQ:PL 0/1:45,46:91:99:1360,0,1371
1 24083649 rs2076346 T C 349.13 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.462;DB;DP=26;Dels=0.0;FS=3.188;HRun=0;HaplotypeScore=1.9899;MQ=59.11;MQ0=0;MQRankSum=1.496;QD=13.43;ReadPosRankSum=-0.354;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TCEB3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418390 GT:AD:DP:GQ:PL 0/1:12,14:26:99:379,0,437
1 24106510 rs3831910 A AT 381.61 PASS AC=2;AF=1.00;AN=2;DB;DP=12;FS=0.0;HRun=4;HaplotypeScore=38.1709;IndelType=I;MQ=58.91;MQ0=0;QD=31.8;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PITHD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000246151 GT:AD:DP:GQ:PL 1/1:1,11:12:33.10:424,33,0
1 24122986 rs760941 C T 208.41 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.66;MQ0=0;QD=20.84;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GALE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418277 GT:AD:DP:GQ:PL 1/1:0,9:10:24.01:241,24,0
1 24133612 rs1018396 G A 5369.85 PASS AC=2;AF=1.00;AN=2;DB;DP=151;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.9024;MQ=59.69;MQ0=0;QD=35.56;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HMGCL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465332 GT:AD:DP:GQ:PL 1/1:0,150:151:99:5370,391,0
1 24134462 rs719399 C T 160.33 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.07;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HMGCL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465332 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:193,15,0
1 24134721 rs719400 T C 2486.01 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9578;MQ=59.66;MQ0=0;QD=36.56;SNPEFF_AMINO_ACID_CHANGE=L147;SNPEFF_CODON_CHANGE=ctA/ctG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_24134625_24134813;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HMGCL;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000436439 GT:AD:DP:GQ:PL 1/1:0,68:68:99:2519,187,0
1 24143932 rs2076344 A G 848.53 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.8824;MQ=59.14;MQ0=0;QD=31.43;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HMGCL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374483 GT:AD:DP:GQ:PL 1/1:0,27:27:69.20:882,69,0
1 24200800 rs1105 T C 49.41 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.7;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374472 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
1 24200903 rs2229586 G C 750.19 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.78;MQ0=0;QD=34.1;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374472 GT:AD:DP:GQ:PL 1/1:0,22:22:60.19:783,60,0
1 24200921 rs2229585 T C 867.85 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.6651;MQ=57.48;MQ0=0;QD=30.99;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374472 GT:AD:DP:GQ:PL 1/1:0,27:28:69.20:901,69,0
1 24200969 rs2229584 T C 1731.13 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.63;MQ0=0;QD=33.94;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374472 GT:AD:DP:GQ:PL 1/1:0,51:51:99:1764,141,0
1 24200983 rs2229583 C T 1983.83 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.84;MQ0=0;QD=33.06;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374472 GT:AD:DP:GQ:PL 1/1:0,60:60:99:2017,147,0
1 24201094 rs2229581 G C 3338.95 PASS AC=2;AF=1.00;AN=2;DB;DP=106;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=5.9169;MQ=59.17;MQ0=0;QD=31.5;SNPEFF_AMINO_ACID_CHANGE=T338;SNPEFF_CODON_CHANGE=acC/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_24197016_24202152;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNR2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000374472 GT:AD:DP:GQ:PL 1/1:0,105:106:99:3339,259,0
1 24201109 rs2229580 C T 3799.27 PASS AC=2;AF=1.00;AN=2;DB;DP=113;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.9562;MQ=59.01;MQ0=0;QD=33.62;SNPEFF_AMINO_ACID_CHANGE=P333;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_24197016_24202152;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNR2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000374472 GT:AD:DP:GQ:PL 1/1:0,112:113:99:3799,277,0
1 24201262 rs2502993 A G 1471.21 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.48;MQ0=0;QD=33.44;SNPEFF_AMINO_ACID_CHANGE=A282;SNPEFF_CODON_CHANGE=gcT/gcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_24197016_24202152;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNR2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000374472 GT:AD:DP:GQ:PL 1/1:0,44:44:99:1504,120,0
1 24201357 rs4649124 A G 1030.74 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=58.45;MQ0=0;QD=34.36;SNPEFF_AMINO_ACID_CHANGE=L251;SNPEFF_CODON_CHANGE=Ttg/Ctg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_24197016_24202152;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNR2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000374472 GT:AD:DP:GQ:PL 1/1:0,30:30:81.24:1064,81,0
1 24201448 rs3003336 C T 1115.07 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.32;MQ0=0;QD=32.8;SNPEFF_AMINO_ACID_CHANGE=V220;SNPEFF_CODON_CHANGE=gtG/gtA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_24197016_24202152;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNR2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000374472 GT:AD:DP:GQ:PL 1/1:0,34:34:84.28:1148,84,0
1 24201643 rs2501431 G A 1055.59 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.8823;MQ=58.5;MQ0=0;QD=34.05;SNPEFF_AMINO_ACID_CHANGE=G155;SNPEFF_CODON_CHANGE=ggC/ggT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_24197016_24202152;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNR2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000374472 GT:AD:DP:GQ:PL 1/1:0,31:31:84.25:1089,84,0
1 24201919 rs2502992 T C 1954.91 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.55;MQ0=0;QD=29.18;SNPEFF_AMINO_ACID_CHANGE=Q63;SNPEFF_CODON_CHANGE=caA/caG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_24197016_24202152;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNR2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000374472 GT:AD:DP:GQ:PL 1/1:0,67:67:99:1988,150,0
1 24201920 rs2501432 T C 1805.02 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.47;MQ0=0;QD=27.77;SNPEFF_AMINO_ACID_CHANGE=Q63R;SNPEFF_CODON_CHANGE=cAa/cGa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_24197016_24202152;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNR2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000374472 GT:AD:DP:GQ:PL 1/1:0,65:65:99:1838,150,0
1 24202318 rs2502991 A G 45.74 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374472 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:77,6,0
1 24228108 rs4649133 G A 858.74 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.07;MQ0=0;QD=34.35;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374472 GT:AD:DP:GQ:PL 1/1:0,25:25:66.22:892,66,0
1 24228132 rs4649134 G A 627.26 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=57.53;MQ0=0;QD=33.01;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374472 GT:AD:DP:GQ:PL 1/1:0,19:19:51.16:660,51,0
1 24228206 rs4649135 A G 664.30 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.8332;MQ=58.89;MQ0=0;QD=31.63;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374472 GT:AD:DP:GQ:PL 1/1:1,20:21:51.17:697,51,0
1 24298212 rs7522946 C T 271.30 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=16.57;MQ0=10;QD=12.33;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SRSF10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343255 GT:AD:DP:GQ:PL 1/1:9,13:22:33.03:304,33,0
1 24383819 rs7540491 T C 479.08 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.94;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYOM3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000330966 GT:AD:DP:GQ:PL 1/1:0,15:15:39.10:512,39,0
1 24387822 rs7553075 T A 184.44 PASS AB=0.72;AC=1;AF=0.50;AN=2;BaseQRankSum=0.817;DB;DP=25;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.696;QD=7.38;ReadPosRankSum=1.18;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYOM3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329601 GT:AD:DP:GQ:PL 0/1:18,7:25:99:214,0,604
1 24388371 rs4649168 T C 513.11 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.45;MQ0=0;QD=34.21;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYOM3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329601 GT:AD:DP:GQ:PL 1/1:0,15:15:42.11:546,42,0
1 24388417 rs11811060 A G 749.52 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=1.786;DB;DP=45;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.7887;MQ=59.49;MQ0=0;MQRankSum=0.921;QD=16.66;ReadPosRankSum=-0.307;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYOM3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329601 GT:AD:DP:GQ:PL 0/1:21,24:45:99:780,0,717
1 24388679 rs3795303 T C 440.68 PASS AB=0.379;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.472;DB;DP=29;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9983;MQ=60.0;MQ0=0;MQRankSum=0.067;QD=15.2;ReadPosRankSum=0.202;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYOM3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329601 GT:AD:DP:GQ:PL 0/1:11,18:29:99:471,0,373
1 24390717 rs41268127 G A 148.48 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=1.159;DB;DP=9;Dels=0.0;FS=3.522;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=16.5;ReadPosRankSum=-1.159;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYOM3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329601 GT:AD:DP:GQ:PL 0/1:4,5:9:99:178,0,131
1 24392600 rs6682222 G A 1264.71 PASS AB=0.397;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.695;DB;DP=68;Dels=0.0;FS=3.329;HRun=0;HaplotypeScore=0.0;MQ=59.32;MQ0=0;MQRankSum=1.692;QD=18.6;ReadPosRankSum=0.301;SNPEFF_AMINO_ACID_CHANGE=H33;SNPEFF_CODON_CHANGE=caC/caT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_24392597_24393069;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYOM3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000338909 GT:AD:DP:GQ:PL 0/1:27,41:68:99:1295,0,847
1 24392671 rs6699525 T C 347.12 PASS AB=0.316;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.921;DB;DP=19;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=57.53;MQ0=0;MQRankSum=0.921;QD=18.27;ReadPosRankSum=-1.359;SNPEFF_AMINO_ACID_CHANGE=R10G;SNPEFF_CODON_CHANGE=Agg/Ggg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_24392597_24393069;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYOM3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000338909 GT:AD:DP:GQ:PL 0/1:6,13:19:99:377,0,184
1 24394424 rs7542151 G A 2079.88 PASS AB=0.51;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.38;DB;DP=149;Dels=0.0;FS=5.033;HRun=0;HaplotypeScore=3.95;MQ=59.38;MQ0=0;MQRankSum=1.373;QD=13.96;ReadPosRankSum=-0.514;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYOM3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329601 GT:AD:DP:GQ:PL 0/1:76,73:149:99:2110,0,2137
1 24394673 rs12125641 C T 664.57 PASS AB=0.49;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.83;DB;DP=52;Dels=0.0;FS=1.413;HRun=0;HaplotypeScore=0.0;MQ=59.02;MQ0=0;MQRankSum=-0.47;QD=12.78;ReadPosRankSum=1.81;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYOM3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329601 GT:AD:DP:GQ:PL 0/1:25,26:52:99:695,0,675
1 24394811 rs12145360 A G 1963.32 PASS AB=0.57;AC=1;AF=0.50;AN=2;BaseQRankSum=1.773;DB;DP=180;Dels=0.0;FS=5.502;HRun=1;HaplotypeScore=2.6995;MQ=59.72;MQ0=0;MQRankSum=0.491;QD=10.91;ReadPosRankSum=-0.893;SNPEFF_AMINO_ACID_CHANGE=I1066T;SNPEFF_CODON_CHANGE=aTc/aCc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_24394713_24394857;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYOM3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000329601 GT:AD:DP:GQ:PL 0/1:102,77:180:99:1993,0,2980
1 24395003 rs6660675 T G 118.98 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=2.266;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=55.21;MQ0=0;MQRankSum=-0.184;QD=7.93;ReadPosRankSum=1.164;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYOM3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329601 GT:AD:DP:GQ:PL 0/1:10,5:15:99:149,0,272
1 24400584 rs6660949 G C 915.38 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.49;MQ0=0;QD=33.9;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYOM3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329601 GT:AD:DP:GQ:PL 1/1:0,27:27:69.23:948,69,0
1 24400633 rs10903083 C G 1449 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=49.39;MQ0=0;QD=30.19;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYOM3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329601 GT:AD:DP:GQ:PL 1/1:0,48:48:99:1482,123,0
1 24406885 rs4649176 C G 89.26 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.75;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYOM3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475306 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:121,9,0
1 24409165 rs4320728 C T 517.10 PASS AB=0.578;AC=1;AF=0.50;AN=2;BaseQRankSum=1.827;DB;DP=45;Dels=0.0;FS=4.288;HRun=1;HaplotypeScore=0.9996;MQ=60.0;MQ0=0;MQRankSum=-0.057;QD=11.49;ReadPosRankSum=1.459;SNPEFF_AMINO_ACID_CHANGE=E670;SNPEFF_CODON_CHANGE=gaG/gaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_24409083_24409204;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYOM3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000329601 GT:AD:DP:GQ:PL 0/1:26,19:45:99:547,0,801
1 24409300 rs56066172 C T 52.77 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.406;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.988;QD=8.79;ReadPosRankSum=0.406;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYOM3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329601 GT:AD:DP:GQ:PL 0/1:3,3:6:82.76:83,0,88
1 24416059 rs4393101 T C 287.22 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=57.66;MQ0=0;QD=28.72;SNPEFF_AMINO_ACID_CHANGE=D528G;SNPEFF_CODON_CHANGE=gAc/gGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_24416028_24416155;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYOM3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000329601 GT:AD:DP:GQ:PL 1/1:0,10:10:24.08:320,24,0
1 24416133 rs4276859 C T 51.33 PASS AB=0.769;AC=1;AF=0.50;AN=2;BaseQRankSum=0.761;DB;DP=13;Dels=0.0;FS=2.932;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.606;QD=3.95;ReadPosRankSum=-1.606;SNPEFF_AMINO_ACID_CHANGE=P503;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_24416028_24416155;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYOM3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000329601 GT:AD:DP:GQ:PL 0/1:10,3:13:81.32:81,0,285
1 24416807 rs12042188 C T 91.66 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYOM3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329601 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:124,9,0
1 24417415 rs6700245 T C 1875.58 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.63;MQ0=0;QD=29.77;SNPEFF_AMINO_ACID_CHANGE=Q435R;SNPEFF_CODON_CHANGE=cAa/cGa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_24417287_24417486;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYOM3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000329601 GT:AD:DP:GQ:PL 1/1:0,63:63:99:1909,153,0
1 24434595 rs11249170 T C 793.39 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.06;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYOM3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329601 GT:AD:DP:GQ:PL 1/1:0,24:24:63.20:826,63,0
1 24447214 rs3795300 G A 694.91 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.39;MQ0=0;QD=38.61;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL22RA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270800 GT:AD:DP:GQ:PL 1/1:0,18:18:54.18:728,54,0
1 24454902 rs79895649 C T 184.13 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.02;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL22RA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270800 GT:AD:DP:GQ:PL 1/1:0,8:8:18.05:217,18,0
1 24460797 rs17852649 T G 511.38 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.8941;MQ=58.45;MQ0=0;QD=34.09;SNPEFF_AMINO_ACID_CHANGE=P145;SNPEFF_CODON_CHANGE=ccA/ccC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_24460701_24460876;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL22RA1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000270800 GT:AD:DP:GQ:PL 1/1:0,15:15:45.13:544,45,0
1 24463359 rs78086250 C A 49.30 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.65;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL22RA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270800 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
1 24463417 rs7418238 A G 48.72 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL22RA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270800 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:80,6,0
1 24483455 rs7522997 G A 270.76 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.08;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL28RA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327575 GT:AD:DP:GQ:PL 1/1:0,9:9:24.07:304,24,0
1 24483491 rs7536412 A G 532.52 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.83;MQ0=0;QD=33.28;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL28RA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327575 GT:AD:DP:GQ:PL 1/1:0,16:16:42.14:566,42,0
1 24484441 rs946671 A G 628.11 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.95;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL28RA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374418 GT:AD:DP:GQ:PL 1/1:0,17:17:48.16:661,48,0
1 24485518 rs10751769 T C 2870.87 PASS AC=2;AF=1.00;AN=2;DB;DP=90;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9999;MQ=59.74;MQ0=0;QD=31.9;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL28RA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374418 GT:AD:DP:GQ:PL 1/1:0,90:90:99:2904,226,0
1 24485813 rs4649194 T C 576.34 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.33;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL28RA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374418 GT:AD:DP:GQ:PL 1/1:0,19:19:51.14:609,51,0
1 24485941 rs4649195 T C 1562.37 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.05;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL28RA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374418 GT:AD:DP:GQ:PL 1/1:0,52:52:99:1595,126,0
1 24657860 rs2486669 A G 404.01 PASS AB=0.396;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.999;DB;DP=48;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.2426;MQ=58.15;MQ0=0;MQRankSum=-0.024;QD=8.42;ReadPosRankSum=0.332;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GRHL3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236255 GT:AD:DP:GQ:PL 0/1:19,29:48:99:434,0,579
1 24658063 rs2486668 C G 817.17 PASS AB=0.438;AC=1;AF=0.50;AN=2;BaseQRankSum=1.28;DB;DP=48;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9159;MQ=60.0;MQ0=0;MQRankSum=-0.893;QD=17.02;ReadPosRankSum=1.366;SNPEFF_AMINO_ACID_CHANGE=D55E;SNPEFF_CODON_CHANGE=gaC/gaG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_24657916_24658102;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GRHL3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000350501 GT:AD:DP:GQ:PL 0/1:21,27:48:99:847,0,652
1 24668667 rs11576645 C G 737.46 PASS AB=0.492;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.886;DB;DP=59;Dels=0.0;FS=5.324;HRun=0;HaplotypeScore=3.1151;MQ=58.26;MQ0=0;MQRankSum=0.544;QD=12.5;ReadPosRankSum=0.311;SNPEFF_AMINO_ACID_CHANGE=V277;SNPEFF_CODON_CHANGE=gtC/gtG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_24668605_24668763;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GRHL3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000342072 GT:AD:DP:GQ:PL 0/1:29,30:59:99:767,0,820
1 24673866 rs6691722 A G 170.87 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.52;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=0.678;QD=15.53;ReadPosRankSum=-0.678;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GRHL3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461318 GT:AD:DP:GQ:PL 0/1:4,7:11:99:201,0,131
1 24687058 rs11581149 C G 284.44 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.177;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=2.062;QD=18.96;ReadPosRankSum=-1.473;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf201;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000003583 GT:AD:DP:GQ:PL 0/1:6,9:15:99:314,0,191
1 24690894 rs74060321 C T 175.61 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=0.452;DB;DP=14;Dels=0.0;FS=2.276;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.065;QD=12.54;ReadPosRankSum=-1.356;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf201;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374404 GT:AD:DP:GQ:PL 0/1:8,6:14:99:206,0,200
1 24706113 rs3765428 G A 390 PASS AB=0.48;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.768;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=59.11;MQ0=0;MQRankSum=-1.061;QD=15.0;ReadPosRankSum=0.354;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf201;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000003583 GT:AD:DP:GQ:PL 0/1:12,13:26:99:420,0,394
1 24706269 rs1064842 A G 546.66 PASS AB=0.472;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.665;DB;DP=36;Dels=0.0;FS=6.276;HRun=0;HaplotypeScore=0.0;MQ=59.36;MQ0=0;MQRankSum=1.204;QD=15.19;ReadPosRankSum=0.063;SNPEFF_AMINO_ACID_CHANGE=N112;SNPEFF_CODON_CHANGE=aaT/aaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_24706143_24706313;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf201;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000337248 GT:AD:DP:GQ:PL 0/1:17,19:36:99:577,0,571
1 24706292 rs1142057 T C 379.01 PASS AB=0.48;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.42;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.68;QD=15.16;ReadPosRankSum=-0.082;SNPEFF_AMINO_ACID_CHANGE=I105V;SNPEFF_CODON_CHANGE=Att/Gtt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_24706143_24706313;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf201;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000337248 GT:AD:DP:GQ:PL 0/1:12,13:25:99:409,0,414
1 24706410 rs3765431 T C 31.25 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=15.62;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf201;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000003583 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:62,6,0
1 24718075 rs2294520 T C 829.58 PASS AB=0.53;AC=1;AF=0.50;AN=2;BaseQRankSum=0.128;DB;DP=66;Dels=0.0;FS=3.677;HRun=1;HaplotypeScore=0.0;MQ=59.3;MQ0=0;MQRankSum=-0.257;QD=12.57;ReadPosRankSum=3.006;SNPEFF_AMINO_ACID_CHANGE=Q55;SNPEFF_CODON_CHANGE=caA/caG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_24718051_24718169;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf201;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000337248 GT:AD:DP:GQ:PL 0/1:35,31:66:99:860,0,1112
1 24718318 rs112194829 T TA 119.94 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.143;DB;DP=12;FS=0.0;HRun=10;HaplotypeScore=37.8948;IndelType=I;MQ=61.78;MQ0=0;MQRankSum=0.825;QD=10.0;ReadPosRankSum=-0.717;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf201;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000003583 GT:AD:DP:GQ:PL 0/1:6,6:12:89.89:159,0,90
1 24727678 rs2078445 C T 137.65 PASS AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9929;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=19.66;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf201;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000003583 GT:AD:DP:GQ:PL 0/1:1,5:7:20.53:168,0,21
1 24746205 rs12125143 C T 96.40 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.447;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=0.633;QD=9.64;ReadPosRankSum=0.365;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NIPAL3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000003912 GT:AD:DP:GQ:PL 0/1:6,4:10:99:126,0,217
1 24768778 rs4648863 G C 434.38 PASS AB=0.304;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.493;DB;DP=23;Dels=0.0;FS=2.817;HRun=1;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=-1.762;QD=18.89;ReadPosRankSum=0.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NIPAL3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000003912 GT:AD:DP:GQ:PL 0/1:7,16:23:99:464,0,231
1 24784139 rs10903089 A G 214.71 PASS AB=0.579;AC=1;AF=0.50;AN=2;BaseQRankSum=1.362;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8667;MQ=58.78;MQ0=0;MQRankSum=2.106;QD=11.3;ReadPosRankSum=0.289;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NIPAL3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358028 GT:AD:DP:GQ:PL 0/1:11,8:19:99:245,0,372
1 24784197 rs195718 T C 241.19 PASS AB=0.577;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.727;DB;DP=26;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.2;MQ0=0;MQRankSum=1.505;QD=9.28;ReadPosRankSum=0.363;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NIPAL3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358028 GT:AD:DP:GQ:PL 0/1:15,11:26:99:271,0,454
1 24785393 rs2272935 C T 402.79 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.126;DB;DP=28;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=-1.126;QD=14.39;ReadPosRankSum=0.988;SNPEFF_AMINO_ACID_CHANGE=A181;SNPEFF_CODON_CHANGE=gcC/gcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_24785378_24785466;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NIPAL3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000003912 GT:AD:DP:GQ:PL 0/1:14,14:28:99:433,0,494
1 24792617 rs195725 T A 502.71 PASS AB=0.512;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.578;DB;DP=41;Dels=0.0;FS=1.571;HRun=1;HaplotypeScore=0.9995;MQ=59.54;MQ0=0;MQRankSum=0.535;QD=12.26;ReadPosRankSum=0.248;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NIPAL3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000003912 GT:AD:DP:GQ:PL 0/1:21,20:41:99:533,0,669
1 24840768 rs196403 G A 298.44 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=2.034;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.109;QD=24.87;ReadPosRankSum=1.294;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RCAN3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374395 GT:AD:DP:GQ:PL 0/1:3,9:12:44.79:328,0,45
1 24859617 rs196429 G A 371.23 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=1.945;DB;DP=24;Dels=0.0;FS=1.999;HRun=0;HaplotypeScore=0.9832;MQ=57.05;MQ0=0;MQRankSum=0.785;QD=15.47;ReadPosRankSum=-1.399;SNPEFF_AMINO_ACID_CHANGE=P128;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_24859603_24859744;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RCAN3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000436717 GT:AD:DP:GQ:PL 0/1:8,14:24:99:401,0,206
1 24859665 rs196430 G A 845.94 PASS AB=0.237;AC=1;AF=0.50;AN=2;BaseQRankSum=1.611;DB;DP=38;Dels=0.0;FS=1.535;HRun=0;HaplotypeScore=0.5784;MQ=59.39;MQ0=0;MQRankSum=-0.867;QD=22.26;ReadPosRankSum=-0.69;SNPEFF_AMINO_ACID_CHANGE=P144;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_24859603_24859744;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RCAN3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000436717 GT:AD:DP:GQ:PL 0/1:9,29:38:99:876,0,213
1 24861704 rs196432 G A 1351.01 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.6651;MQ=59.45;MQ0=0;QD=32.17;SNPEFF_AMINO_ACID_CHANGE=R106Q;SNPEFF_CODON_CHANGE=cGa/cAa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_24861583_24861769;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RCAN3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000374393 GT:AD:DP:GQ:PL 1/1:0,42:42:99:1384,105,0
1 24978892 rs60568839 CA C 40.86 PASS AB=0.704;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.588;DB;DP=19;FS=0.0;HRun=16;HaplotypeScore=133.2064;IndelType=D;MQ=54.95;MQ0=0;MQRankSum=1.164;QD=2.15;ReadPosRankSum=0.423;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SRRM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462710 GT:AD:DP:GQ:PL 0/1:10,7:19:79.89:80,0,121
1 24987299 rs145732567 G T 1943.20 PASS AB=0.378;AC=1;AF=0.50;AN=2;BaseQRankSum=4.41;DB;DP=119;Dels=0.0;FS=4.574;HRun=3;HaplotypeScore=3.936;MQ=59.42;MQ0=0;MQRankSum=-0.233;QD=16.33;ReadPosRankSum=-0.615;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SRRM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000323848 GT:AD:DP:GQ:PL 0/1:45,74:119:99:1973,0,1171
1 24989762 rs4649011 G T 1135.38 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.38;MQ0=0;QD=30.69;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SRRM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485541 GT:AD:DP:GQ:PL 1/1:0,37:37:90.29:1168,90,0
1 25140825 rs3890756 A G 550.46 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.7;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLIC4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374379 GT:AD:DP:GQ:PL 1/1:0,15:15:42.14:583,42,0
1 25153692 rs4649022 G A 923.71 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.95;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLIC4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374379 GT:AD:DP:GQ:PL 1/1:0,25:25:72.23:957,72,0
1 25254317 rs7517302 C T 473.34 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.028;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=0.361;QD=18.93;ReadPosRankSum=0.471;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RUNX3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479341 GT:AD:DP:GQ:PL 0/1:10,15:25:99:503,0,314
1 25256444 rs71514255 G A 33.21 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=11.07;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RUNX3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000338888 GT:AD:DP:GQ:PL 0/1:1,2:3:31.62:63,0,32
1 25291010 rs6672420 A T 163 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.037;DB;DP=11;Dels=0.0;FS=2.398;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.278;QD=14.82;ReadPosRankSum=0.278;SNPEFF_AMINO_ACID_CHANGE=I18N;SNPEFF_CODON_CHANGE=aTc/aAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_25291005_25291159;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RUNX3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000338888 GT:AD:DP:GQ:PL 0/1:4,7:11:99:193,0,135
1 25570081 rs1043879 T C 413.06 PASS AB=0.581;AC=1;AF=0.50;AN=2;BaseQRankSum=0.677;DB;DP=43;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.46;MQ0=0;MQRankSum=0.062;QD=9.61;ReadPosRankSum=0.382;SNPEFF_AMINO_ACID_CHANGE=E239G;SNPEFF_CODON_CHANGE=gAa/gGa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_25570041_25570124;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C1orf63;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000243189 GT:AD:DP:GQ:PL 0/1:25,18:43:99:443,0,796
1 25611035 rs2301153 G C 762.17 PASS AB=0.35;AC=1;AF=0.50;AN=2;BaseQRankSum=2.538;DB;DP=40;Dels=0.0;FS=6.476;HRun=1;HaplotypeScore=0.7887;MQ=53.2;MQ0=0;MQRankSum=-0.326;QD=19.05;ReadPosRankSum=-0.78;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RHD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328664 GT:AD:DP:GQ:PL 0/1:14,26:40:99:792,0,374
1 25617399 rs28521909 T C 197.78 PASS AB=0.111;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.747;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.986;MQ=55.62;MQ0=0;MQRankSum=0.747;QD=21.98;ReadPosRankSum=-0.747;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RHD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328664 GT:AD:DP:GQ:PL 0/1:1,8:9:3.62:227,0,4
1 25617406 rs28562109 G A 137.05 PASS AB=0.143;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.9866;MQ=54.31;MQ0=0;MQRankSum=0.736;QD=19.58;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RHD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328664 GT:AD:DP:GQ:PL 0/1:1,6:7:9.61:167,0,10
1 25634205 rs2257611 G A 622.56 PASS AB=0.463;AC=1;AF=0.50;AN=2;BaseQRankSum=0.039;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=54.79;MQ0=0;MQRankSum=0.431;QD=15.18;ReadPosRankSum=1.608;SNPEFF_AMINO_ACID_CHANGE=V381M;SNPEFF_CODON_CHANGE=Gtg/Atg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_25634138_25634307;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RHD;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000342055 GT:AD:DP:GQ:PL 0/1:19,22:41:99:653,0,539
1 25648349 rs28669938 T C 890.64 PASS AB=0.396;AC=1;AF=0.50;AN=2;BaseQRankSum=0.485;DB;DP=48;Dels=0.0;FS=1.436;HRun=1;HaplotypeScore=0.0;MQ=58.7;MQ0=0;MQRankSum=0.105;QD=18.56;ReadPosRankSum=-2.256;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RHD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328664 GT:AD:DP:GQ:PL 0/1:19,29:48:99:921,0,553
1 25678238 rs3093616 T A 827.30 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9998;MQ=58.99;MQ0=0;QD=35.97;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM50A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000487234 GT:AD:DP:GQ:PL 1/1:0,23:23:63.21:860,63,0
1 25717139 rs636889 C T 143.79 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.278;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.9924;MQ=44.37;MQ0=0;MQRankSum=0.0;QD=13.07;ReadPosRankSum=-0.278;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RHCE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000243186 GT:AD:DP:GQ:PL 0/1:4,7:11:99:174,0,104
1 25717365 rs609320 C G 2137.15 PASS AB=0.425;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.072;DB;DP=120;Dels=0.0;FS=7.113;HRun=1;HaplotypeScore=0.7887;MQ=52.51;MQ0=0;MQRankSum=-1.179;QD=17.81;ReadPosRankSum=-0.545;SNPEFF_AMINO_ACID_CHANGE=A168P;SNPEFF_CODON_CHANGE=Gct/Cct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_25717240_25717380;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RHCE;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000539650 GT:AD:DP:GQ:PL 0/1:51,69:120:99:2167,0,1549
1 25747230 rs586178 G C 99.12 QDFilter2 AB=0.689;AC=1;AF=0.50;AN=2;BaseQRankSum=0.581;DB;DP=61;Dels=0.0;FS=4.884;HRun=1;HaplotypeScore=0.0;MQ=40.74;MQ0=10;MQRankSum=-2.399;QD=1.62;ReadPosRankSum=0.985;SNPEFF_AMINO_ACID_CHANGE=C16W;SNPEFF_CODON_CHANGE=tgC/tgG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_25747130_25747363;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RHCE;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000243186 GT:AD:DP:GQ:PL 0/1:42,19:61:99:129,0,1281
1 25747399 rs2072931 G T 35.62 MQFilter40 AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=36.95;MQ0=1;MQRankSum=1.231;QD=5.94;ReadPosRankSum=0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RHCE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000349320 GT:AD:DP:GQ:PL 0/1:4,2:6:65.61:66,0,92
1 25780668 rs34006994 C T 290.38 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.971;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.265;QD=16.13;ReadPosRankSum=1.589;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM57;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374343 GT:AD:DP:GQ:PL 0/1:9,9:18:99:320,0,322
1 25780889 . A ATG 222.19 PASS AB=0.765;AC=1;AF=0.50;AN=2;BaseQRankSum=3.518;DP=26;FS=3.757;HRun=0;HaplotypeScore=154.7122;IndelType=I;MQ=59.48;MQ0=0;MQRankSum=1.386;QD=8.55;ReadPosRankSum=0.462;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM57;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374343 GT:AD:DP:GQ:PL 0/1:18,8:26:99:261,0,417
1 25783066 rs35497030 A G 104.92 PASS AB=0.688;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.172;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.586;QD=6.56;ReadPosRankSum=-0.566;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM57;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374343 GT:AD:DP:GQ:PL 0/1:11,5:16:99:135,0,406
1 25785451 rs35530120 A G 519.27 PASS AB=0.448;AC=1;AF=0.50;AN=2;BaseQRankSum=0.998;DB;DP=29;Dels=0.0;FS=3.68;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.509;QD=17.91;ReadPosRankSum=0.812;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM57;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470035 GT:AD:DP:GQ:PL 0/1:13,16:29:99:549,0,361
1 25810416 rs61775192 A G 53.79 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=10.76;ReadPosRankSum=1.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM57;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374343 GT:AD:DP:GQ:PL 0/1:2,3:5:67.97:84,0,68
1 25817705 rs35343405 C T 42.20 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=47.12;MQ0=0;QD=21.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM57;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374343 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:73,6,0
1 25870018 rs61776820 C G 36.72 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=12.24;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LDLRAP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374338 GT:AD:DP:GQ:PL 1/1:0,3:3:6.01:68,6,0
1 25889422 rs12096438 C T 299 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.766;DB;DP=15;Dels=0.0;FS=2.796;HRun=0;HaplotypeScore=0.9998;MQ=60.0;MQ0=0;MQRankSum=0.766;QD=19.93;ReadPosRankSum=-1.237;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LDLRAP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374338 GT:AD:DP:GQ:PL 0/1:6,9:15:99:329,0,201
1 25889632 rs6687605 T C 368.17 PASS AB=0.44;AC=1;AF=0.50;AN=2;BaseQRankSum=2.546;DB;DP=25;Dels=0.0;FS=4.678;HRun=5;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=-1.505;QD=14.73;ReadPosRankSum=-0.465;SNPEFF_AMINO_ACID_CHANGE=S202P;SNPEFF_CODON_CHANGE=Tcc/Ccc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_25889561_25889644;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LDLRAP1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000374338 GT:AD:DP:GQ:PL 0/1:11,14:25:99:398,0,343
1 25889672 rs6688931 G A 283.84 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.589;DB;DP=12;Dels=0.0;FS=6.021;HRun=0;HaplotypeScore=0.9947;MQ=60.0;MQ0=0;MQRankSum=-2.589;QD=23.65;ReadPosRankSum=-0.185;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LDLRAP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374338 GT:AD:DP:GQ:PL 0/1:3,9:12:52.90:314,0,53
1 25890050 rs6661159 A G 38.30 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=7;Dels=0.0;FS=3.68;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=5.47;ReadPosRankSum=-0.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LDLRAP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374338 GT:AD:DP:GQ:PL 0/1:3,4:7:68.30:68,0,111
1 25890189 rs28969504 A G 241.08 PASS AB=0.565;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.132;DB;DP=23;Dels=0.0;FS=4.018;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.231;QD=10.48;ReadPosRankSum=0.099;SNPEFF_AMINO_ACID_CHANGE=T218;SNPEFF_CODON_CHANGE=acA/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_25890152_25890282;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LDLRAP1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000374338 GT:AD:DP:GQ:PL 0/1:13,10:23:99:271,0,393
1 25893221 rs4523506 G T 40.30 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=13.43;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LDLRAP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374338 GT:AD:DP:GQ:PL 0/1:1,2:3:27.10:70,0,27
1 26085048 rs11321223 AG A 126.59 PASS AB=0.741;AC=1;AF=0.50;AN=2;BaseQRankSum=2.774;DB;DP=20;FS=4.834;HRun=6;HaplotypeScore=49.1327;IndelType=D;MQ=61.07;MQ0=0;MQRankSum=1.189;QD=6.33;ReadPosRankSum=-0.713;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAN1C1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263979 GT:AD:DP:GQ:PL 0/1:13,7:20:99:166,0,447
1 26098107 rs2072747 G A 416.11 PASS AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=3.115;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.076;QD=10.95;ReadPosRankSum=-1.808;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAN1C1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263979 GT:AD:DP:GQ:PL 0/1:20,18:38:99:446,0,507
1 26098333 rs807264 G A 764.13 PASS AB=0.442;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.012;DB;DP=43;Dels=0.0;FS=3.025;HRun=0;HaplotypeScore=1.7333;MQ=60.0;MQ0=0;MQRankSum=-0.379;QD=17.77;ReadPosRankSum=-0.355;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAN1C1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263979 GT:AD:DP:GQ:PL 0/1:19,24:43:99:794,0,634
1 26109237 rs12567324 A G 479.07 PASS AB=0.585;AC=1;AF=0.50;AN=2;BaseQRankSum=0.437;DB;DP=41;Dels=0.0;FS=2.519;HRun=3;HaplotypeScore=0.0;MQ=59.09;MQ0=0;MQRankSum=0.728;QD=11.68;ReadPosRankSum=0.278;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAN1C1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000496532 GT:AD:DP:GQ:PL 0/1:24,17:41:99:509,0,812
1 26109307 rs2072746 G C 95.39 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=0.322;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=0.322;QD=11.92;ReadPosRankSum=-0.322;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAN1C1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000496532 GT:AD:DP:GQ:PL 0/1:3,5:8:94.48:125,0,94
1 26110065 rs3820514 A G 328.46 PASS AB=0.536;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.902;DB;DP=29;Dels=0.0;FS=9.932;HRun=0;HaplotypeScore=0.0;MQ=59.2;MQ0=0;MQRankSum=-0.322;QD=11.33;ReadPosRankSum=-0.184;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAN1C1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000496532 GT:AD:DP:GQ:PL 0/1:15,13:29:99:358,0,465
1 26110143 rs3767877 G A 666.35 PASS AB=0.52;AC=1;AF=0.50;AN=2;BaseQRankSum=3.66;DB;DP=50;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=59.63;MQ0=0;MQRankSum=-0.748;QD=13.33;ReadPosRankSum=-0.087;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAN1C1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000496532 GT:AD:DP:GQ:PL 0/1:26,24:50:99:696,0,638
1 26127425 rs6659086 G A 62.79 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=2.166;DB;DP=10;Dels=0.0;FS=2.73;HRun=1;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=-0.296;QD=6.28;ReadPosRankSum=0.895;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SEPN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354177 GT:AD:DP:GQ:PL 0/1:7,3:10:92.79:93,0,236
1 26129438 rs7549097 G T 41.51 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=47.12;MQ0=0;QD=20.75;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SEPN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354177 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:73,6,0
1 26131459 rs11247735 G A 416.29 PASS AB=0.077;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.47;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.401;QD=32.02;ReadPosRankSum=-1.47;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SEPN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354177 GT:AD:DP:GQ:PL 0/1:1,12:13:3.52:445,0,4
1 26131654 rs7349185 G A 221.95 PASS AB=0.687;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.624;DB;DP=49;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.05;MQ0=0;MQRankSum=-1.029;QD=4.53;ReadPosRankSum=-1.672;SNPEFF_AMINO_ACID_CHANGE=C108Y;SNPEFF_CODON_CHANGE=tGc/tAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_26131633_26131766;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SEPN1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000354177 GT:AD:DP:GQ:PL 0/1:33,15:49:99:252,0,1057
1 26138136 rs760598 C A 491.35 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=0.778;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=59.14;MQ0=0;MQRankSum=0.0;QD=18.2;ReadPosRankSum=2.128;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SEPN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354177 GT:AD:DP:GQ:PL 0/1:12,15:27:99:521,0,354
1 26138262 rs760597 T C 199.63 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.369;DB;DP=14;Dels=0.0;FS=9.89;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.101;QD=14.26;ReadPosRankSum=-0.312;SNPEFF_AMINO_ACID_CHANGE=P357;SNPEFF_CODON_CHANGE=ccT/ccC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_26138182_26138370;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SEPN1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000354177 GT:AD:DP:GQ:PL 0/1:6,7:14:99:230,0,208
1 26139137 rs10902685 C T 58.11 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=0.55;DB;DP=8;Dels=0.0;FS=3.31;HRun=0;HaplotypeScore=0.0;MQ=53.95;MQ0=0;MQRankSum=1.754;QD=7.26;ReadPosRankSum=0.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SEPN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354177 GT:AD:DP:GQ:PL 0/1:5,3:8:88.10:88,0,94
1 26140573 rs2294228 C A 540.06 PASS AB=0.542;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.817;DB;DP=48;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.486;QD=11.25;ReadPosRankSum=-0.155;SNPEFF_AMINO_ACID_CHANGE=N468K;SNPEFF_CODON_CHANGE=aaC/aaA;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_26140568_26140669;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SEPN1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000354177 GT:AD:DP:GQ:PL 0/1:26,22:48:99:570,0,895
1 26150023 rs11247758 C T 570.65 PASS AB=0.344;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.218;DB;DP=32;Dels=0.0;FS=5.506;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.218;QD=17.83;ReadPosRankSum=-1.466;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM54B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374300 GT:AD:DP:GQ:PL 0/1:11,21:32:99:601,0,334
1 26152758 rs6598924 A G 230.84 PASS AB=0.438;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.964;DB;DP=16;Dels=0.0;FS=2.596;HRun=0;HaplotypeScore=0.0;MQ=57.34;MQ0=0;MQRankSum=-1.588;QD=14.43;ReadPosRankSum=1.059;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM54B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000494293 GT:AD:DP:GQ:PL 0/1:7,9:16:99:261,0,204
1 26158337 rs1961580 C T 411.15 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.267;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.364;QD=14.68;ReadPosRankSum=-0.364;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf135;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374298 GT:AD:DP:GQ:PL 0/1:14,14:28:99:441,0,490
1 26310213 rs2275101 T C 36.67 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.33;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PAFAH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000439092 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:68,6,0
1 26310394 rs2275102 A G 2644.13 PASS AC=2;AF=1.00;AN=2;DB;DP=78;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.11;MQ0=0;QD=33.9;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PAFAH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000439092 GT:AD:DP:GQ:PL 1/1:0,78:78:99:2677,214,0
1 26310836 rs3738458 G T 172.64 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.77;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PAFAH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374282 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:205,15,0
1 26314564 rs2245979 T C 723.65 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.09;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PAFAH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374282 GT:AD:DP:GQ:PL 1/1:0,19:19:57.16:757,57,0
1 26357656 rs2736831 C A 2477.79 PASS AC=2;AF=1.00;AN=2;DB;DP=77;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.18;SNPEFF_AMINO_ACID_CHANGE=H379N;SNPEFF_CODON_CHANGE=Cac/Aac;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_26357623_26357755;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=EXTL1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000374280 GT:AD:DP:GQ:PL 1/1:0,77:77:99:2511,193,0
1 26357855 rs2802321 A G 443.62 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.12;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=EXTL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374280 GT:AD:DP:GQ:PL 1/1:0,13:13:36.12:477,36,0
1 26365549 rs2997452 C T 240.37 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.34;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=EXTL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374280 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:273,21,0
1 26370164 rs11585142 G A 163.81 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.04;MQ0=0;QD=27.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC30A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374276 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:197,15,0
1 26371788 rs3121763 G A 355.52 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.87;MQ0=0;QD=32.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC30A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374276 GT:AD:DP:GQ:PL 1/1:0,11:11:30.10:389,30,0
1 26372144 rs6686190 A G 122.73 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.68;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC30A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374276 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:155,12,0
1 26372605 rs6672177 G C 34.22 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.11;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC30A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374278 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:65,6,0
1 26508538 rs114806650 C T 184.29 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.843;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.259;QD=15.36;ReadPosRankSum=-0.869;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNKSR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465415 GT:AD:DP:GQ:PL 0/1:6,6:12:99:214,0,167
1 26509900 rs147478341 G A 576.60 PASS AB=0.537;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.209;DB;DP=41;Dels=0.0;FS=1.777;HRun=0;HaplotypeScore=0.9332;MQ=59.44;MQ0=0;MQRankSum=-1.242;QD=14.06;ReadPosRankSum=-0.641;SNPEFF_AMINO_ACID_CHANGE=V250M;SNPEFF_CODON_CHANGE=Gtg/Atg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_26509837_26509905;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNKSR1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000361530 GT:AD:DP:GQ:PL 0/1:22,19:41:99:607,0,695
1 26510310 . AC A 142.67 PASS AB=0.758;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.15;DP=25;FS=0.0;HRun=7;HaplotypeScore=115.2425;IndelType=D;MQ=58.13;MQ0=0;MQRankSum=0.833;QD=5.71;ReadPosRankSum=0.253;SNPEFF_EFFECT=FRAME_SHIFT;SNPEFF_EXON_ID=exon_1_26510220_26510321;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNKSR1;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000361530 GT:AD:DP:GQ:PL 0/1:17,8:25:99:182,0,428
1 26510336 rs115982258 C T 370.35 PASS AB=0.35;AC=1;AF=0.50;AN=2;BaseQRankSum=1.823;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7046;MQ=58.89;MQ0=0;MQRankSum=-0.317;QD=17.64;ReadPosRankSum=2.06;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNKSR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465415 GT:AD:DP:GQ:PL 0/1:7,13:21:99:400,0,163
1 26515956 rs1045105 C A 564.14 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.138;DB;DP=70;Dels=0.0;FS=3.397;HRun=1;HaplotypeScore=0.0;MQ=59.67;MQ0=0;MQRankSum=-0.078;QD=8.06;ReadPosRankSum=-0.078;SNPEFF_AMINO_ACID_CHANGE=H429N;SNPEFF_CODON_CHANGE=Cac/Aac;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_26515770_26516337;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNKSR1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000531191 GT:AD:DP:GQ:PL 0/1:42,28:70:99:594,0,1278
1 26517667 rs11247864 T C 38.62 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=9.65;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNKSR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361530 GT:AD:DP:GQ:PL 0/1:2,2:4:68.61:69,0,72
1 26524016 rs10902719 T A 50.63 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CATSPER4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000338855 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
1 26524706 rs9970046 A G 6505.40 PASS AC=2;AF=1.00;AN=2;DB;DP=189;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7206;MQ=59.39;MQ0=0;QD=34.42;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CATSPER4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000338855 GT:AD:DP:GQ:PL 1/1:0,189:189:99:6505,481,0
1 26527255 rs12145714 G A 189.20 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=1.468;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.7887;MQ=53.03;MQ0=0;MQRankSum=0.471;QD=13.51;ReadPosRankSum=-0.965;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CATSPER4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000338855 GT:AD:DP:GQ:PL 0/1:6,8:14:99:219,0,155
1 26527260 rs12120359 A G 160.24 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=1.22;DB;DP=15;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.7887;MQ=53.52;MQ0=0;MQRankSum=0.0;QD=10.68;ReadPosRankSum=0.34;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CATSPER4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000338855 GT:AD:DP:GQ:PL 0/1:7,8:15:99:190,0,196
1 26527304 rs12121284 T C 450.10 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=1.244;DB;DP=27;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.39;MQ0=0;MQRankSum=-1.293;QD=16.67;ReadPosRankSum=-1.147;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CATSPER4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000338855 GT:AD:DP:GQ:PL 0/1:12,15:27:99:480,0,339
1 26527310 rs12118976 C G 384.33 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.412;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.48;MQ0=0;MQRankSum=-3.134;QD=13.73;ReadPosRankSum=-1.648;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CATSPER4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000338855 GT:AD:DP:GQ:PL 0/1:12,16:28:99:414,0,351
1 26527699 rs869139 T C 31.93 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=53.95;MQ0=0;MQRankSum=0.0;QD=7.98;ReadPosRankSum=1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CATSPER4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000338855 GT:AD:DP:GQ:PL 0/1:2,2:4:60.71:62,0,61
1 26527863 rs17163674 C T 412.80 PASS AB=0.595;AC=1;AF=0.50;AN=2;BaseQRankSum=1.509;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.7479;MQ=59.12;MQ0=0;MQRankSum=0.178;QD=11.16;ReadPosRankSum=1.152;SNPEFF_AMINO_ACID_CHANGE=R406;SNPEFF_CODON_CHANGE=cgC/cgT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_26527845_26528094;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CATSPER4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000338855 GT:AD:DP:GQ:PL 0/1:22,15:37:99:443,0,636
1 26527951 rs6657616 G A 920.07 PASS AB=0.414;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.8;DB;DP=58;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.28;MQ0=0;MQRankSum=0.622;QD=15.86;ReadPosRankSum=0.267;SNPEFF_AMINO_ACID_CHANGE=D436N;SNPEFF_CODON_CHANGE=Gac/Aac;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_26527845_26528094;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CATSPER4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000338855 GT:AD:DP:GQ:PL 0/1:24,34:58:99:950,0,688
1 26528922 rs10902720 C G 167.53 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.51;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CATSPER4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000338855 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:200,15,0
1 26529061 rs114100693 G A 112.88 PASS AB=0.143;AC=1;AF=0.50;AN=2;BaseQRankSum=0.742;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.742;QD=16.13;ReadPosRankSum=-0.742;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CATSPER4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000338855 GT:AD:DP:GQ:PL 0/1:1,6:7:21.08:143,0,21
1 26583998 rs4659417 T C 2865.18 PASS AC=2;AF=1.00;AN=2;DB;DP=92;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.14;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CEP85;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000480446 GT:AD:DP:GQ:PL 1/1:0,91:92:99:2898,226,0
1 26596080 rs7550997 G A 335.99 PASS AB=0.576;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.034;DB;DP=33;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.73;MQ0=0;MQRankSum=-0.669;QD=10.18;ReadPosRankSum=0.142;SNPEFF_AMINO_ACID_CHANGE=A491T;SNPEFF_CODON_CHANGE=Gca/Aca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_26595951_26596105;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CEP85;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000451429 GT:AD:DP:GQ:PL 0/1:19,14:33:99:366,0,635
1 26597435 rs4659419 G A 723.17 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.16;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CEP85;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000252992 GT:AD:DP:GQ:PL 1/1:0,20:20:57.19:756,57,0
1 26597673 rs11247894 G A 505.07 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.85;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CEP85;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000252992 GT:AD:DP:GQ:PL 1/1:0,13:13:39.13:538,39,0
1 26603993 rs3820519 A C 69.17 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.06;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CEP85;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491670 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:101,9,0
1 26608761 rs12354062 C T 62.41 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.38;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=48.36;MQ0=0;MQRankSum=-1.38;QD=8.92;ReadPosRankSum=-0.72;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CEP85;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000252992 GT:AD:DP:GQ:PL 0/1:3,4:7:64.86:92,0,65
1 26608814 rs6672357 A G 221.77 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=37.32;MQ0=0;QD=24.64;SNPEFF_AMINO_ACID_CHANGE=P270;SNPEFF_CODON_CHANGE=ccT/ccC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_26608773_26609060;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBXN11;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000374223 GT:AD:DP:GQ:PL 1/1:0,9:9:24.04:255,24,0
1 26608867 rs193142354 C A 86.04 MQFilter40;SnpCluster AB=0.76;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.113;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=8.8797;MQ=32.24;MQ0=0;MQRankSum=1.304;QD=3.44;ReadPosRankSum=-3.277;SNPEFF_AMINO_ACID_CHANGE=G253C;SNPEFF_CODON_CHANGE=Ggt/Tgt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_26608773_26609060;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBXN11;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000374223 GT:AD:DP:GQ:PL 0/1:19,6:25:99:116,0,359
1 26608873 rs1134583 T A 124.22 HaplotypeScoreFilter13;MQFilter40;SnpCluster AB=0.52;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.571;DB;DP=25;Dels=0.0;FS=10.887;HRun=0;HaplotypeScore=35.9835;MQ=32.24;MQ0=0;MQRankSum=1.115;QD=4.97;ReadPosRankSum=1.713;SNPEFF_AMINO_ACID_CHANGE=S251C;SNPEFF_CODON_CHANGE=Agt/Tgt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_26608773_26609060;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBXN11;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000374223 GT:AD:DP:GQ:PL 0/1:13,12:25:99:154,0,317
1 26608877 rs140364749 GCCGGGA G 1301.77 PASS AC=2;AF=1.00;AN=2;DB;DP=26;FS=0.0;HRun=0;HaplotypeScore=399.7732;IndelType=D;MQ=33.74;MQ0=0;QD=50.07;SNPEFF_AMINO_ACID_CHANGE=GPG247G;SNPEFF_CODON_CHANGE=ggtcccggc/ggc;SNPEFF_EFFECT=CODON_CHANGE_PLUS_CODON_DELETION;SNPEFF_EXON_ID=exon_1_26608773_26609060;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBXN11;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000374223 GT:AD:DP:GQ:PL 1/1:21,5:26:73.78:1344,74,0
1 26608877 rs1134582 G A 116.78 HaplotypeScoreFilter13;MQFilter40;SnpCluster AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.584;DB;DP=26;Dels=0.0;FS=10.307;HRun=0;HaplotypeScore=35.9835;MQ=33.74;MQ0=0;MQRankSum=-0.462;QD=4.49;ReadPosRankSum=1.441;SNPEFF_AMINO_ACID_CHANGE=G249;SNPEFF_CODON_CHANGE=ggC/ggT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_26608773_26609060;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBXN11;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000374223 GT:AD:DP:GQ:PL 0/1:13,13:26:99:147,0,286
1 26608889 . ACC A 217.71 PASS AB=0.771;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.335;DP=27;FS=2.481;HRun=2;HaplotypeScore=424.3852;IndelType=D;MQ=33.57;MQ0=0;MQRankSum=-3.062;QD=8.06;ReadPosRankSum=-0.467;SNPEFF_EFFECT=FRAME_SHIFT;SNPEFF_EXON_ID=exon_1_26607819_26609060;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBXN11;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000314675 GT:AD:DP:GQ:PL 0/1:19,8:27:99:257,0,142
1 26608892 . GGGAC G 369.85 PASS AB=0.789;AC=1;AF=0.50;AN=2;BaseQRankSum=0.551;DP=30;FS=8.239;HRun=0;HaplotypeScore=461.7062;IndelType=D;MQ=35.81;MQ0=0;MQRankSum=-1.942;QD=12.33;ReadPosRankSum=0.983;SNPEFF_EFFECT=FRAME_SHIFT;SNPEFF_EXON_ID=exon_1_26607819_26609060;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBXN11;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000314675 GT:AD:DP:GQ:PL 0/1:22,8:30:99:409,0,130
1 26609093 rs72872912 A T 602.90 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=0.628;DB;DP=45;Dels=0.0;FS=4.291;HRun=0;HaplotypeScore=2.1101;MQ=56.31;MQ0=0;MQRankSum=0.468;QD=13.4;ReadPosRankSum=0.103;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CEP85;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000252992 GT:AD:DP:GQ:PL 0/1:25,20:45:99:633,0,816
1 26609307 rs6598952 G T 1522.87 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.52;MQ0=0;QD=31.73;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CEP85;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000252992 GT:AD:DP:GQ:PL 1/1:0,48:48:99:1556,120,0
1 26610891 rs4332350 A C 959.98 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.0;SNPEFF_AMINO_ACID_CHANGE=L192R;SNPEFF_CODON_CHANGE=cTg/cGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_26610853_26610973;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBXN11;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000314675 GT:AD:DP:GQ:PL 1/1:0,30:30:81.23:993,81,0
1 26612042 rs11247898 A G 565.61 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=57.66;MQ0=0;QD=28.28;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SH3BGRL3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270792 GT:AD:DP:GQ:PL 1/1:0,20:20:48.15:599,48,0
1 26612297 rs11579630 C A 192.44 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.386;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9578;MQ=58.45;MQ0=0;MQRankSum=-0.865;QD=12.83;ReadPosRankSum=0.965;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SH3BGRL3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270792 GT:AD:DP:GQ:PL 0/1:6,9:15:99:222,0,164
1 26612460 rs11247900 G A 483.61 PASS AB=0.472;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.707;DB;DP=37;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8941;MQ=59.38;MQ0=0;MQRankSum=0.949;QD=13.07;ReadPosRankSum=0.88;SNPEFF_AMINO_ACID_CHANGE=L135;SNPEFF_CODON_CHANGE=Ctg/Ttg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_26612314_26612528;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBXN11;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000436301 GT:AD:DP:GQ:PL 0/1:17,19:37:99:514,0,492
1 26620489 rs3732416 T C 51.22 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.61;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBXN11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421827 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
1 26620846 rs3832184 C CA 1812.98 PASS AC=2;AF=1.00;AN=2;DB;DP=39;FS=0.0;HRun=0;HaplotypeScore=96.5742;IndelType=I;MQ=60.28;MQ0=0;QD=46.49;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBXN11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421827 GT:AD:DP:GQ:PL 1/1:0,39:39:99:1855,117,0
1 26624327 rs4290051 G A 216.30 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=54.43;MQ0=0;QD=30.9;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBXN11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000314675 GT:AD:DP:GQ:PL 1/1:0,7:7:18.06:249,18,0
1 26627283 rs4291487 A G 125.44 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.62;MQ0=0;QD=17.92;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBXN11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000314675 GT:AD:DP:GQ:PL 1/1:0,7:7:15.03:158,15,0
1 26627478 rs2276712 T C 740.27 PASS AB=0.431;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.634;DB;DP=67;Dels=0.0;FS=18.881;HRun=1;HaplotypeScore=4.9066;MQ=57.19;MQ0=0;MQRankSum=-1.013;QD=11.05;ReadPosRankSum=-1.216;SNPEFF_AMINO_ACID_CHANGE=S46;SNPEFF_CODON_CHANGE=tcA/tcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_26627417_26627515;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBXN11;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000314675 GT:AD:DP:GQ:PL 0/1:28,37:67:99:770,0,837
1 26644399 rs41285347 C T 348.23 PASS AB=0.368;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.817;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=-0.042;QD=18.33;ReadPosRankSum=0.803;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AIM1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000308182 GT:AD:DP:GQ:PL 0/1:7,12:19:99:378,0,229
1 26644698 rs12090258 C T 69.85 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.406;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.406;QD=11.64;ReadPosRankSum=0.406;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AIM1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000308182 GT:AD:DP:GQ:PL 0/1:3,3:6:99:100,0,101
1 26646574 rs112252579 G A 192.61 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.093;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.35;MQ0=0;MQRankSum=0.101;QD=14.82;ReadPosRankSum=-0.101;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AIM1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000308182 GT:AD:DP:GQ:PL 0/1:6,7:13:99:223,0,199
1 26646726 rs1071849 A G 745.36 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=0.327;DB;DP=64;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=57.43;MQ0=0;MQRankSum=0.88;QD=11.65;ReadPosRankSum=-1.164;SNPEFF_AMINO_ACID_CHANGE=N40S;SNPEFF_CODON_CHANGE=aAc/aGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_26646662_26647014;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD52;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000374213 GT:AD:DP:GQ:PL 0/1:36,28:64:99:775,0,1016
1 26646730 rs17645 A G 703.03 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=2.371;DB;DP=63;Dels=0.0;FS=1.018;HRun=0;HaplotypeScore=0.0;MQ=57.39;MQ0=0;MQRankSum=2.059;QD=11.16;ReadPosRankSum=-1.434;SNPEFF_AMINO_ACID_CHANGE=I41M;SNPEFF_CODON_CHANGE=atA/atG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_26646662_26647014;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD52;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000374213 GT:AD:DP:GQ:PL 0/1:35,28:63:99:733,0,1032
1 26648381 rs17163868 C T 106.20 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=53.95;MQ0=0;QD=26.55;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AIM1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374208 GT:AD:DP:GQ:PL 1/1:0,4:4:12.02:139,12,0
1 26648551 rs11247913 G C 774.13 PASS AB=0.51;AC=1;AF=0.50;AN=2;BaseQRankSum=2.309;DB;DP=51;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.6498;MQ=60.0;MQ0=0;MQRankSum=-0.291;QD=15.18;ReadPosRankSum=1.921;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD52;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374213 GT:AD:DP:GQ:PL 0/1:26,25:51:99:804,0,788
1 26648826 rs60799739 G A 437.78 PASS AB=0.452;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.218;DB;DP=31;Dels=0.0;FS=3.114;HRun=1;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=0.099;QD=14.12;ReadPosRankSum=0.139;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD52;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374213 GT:AD:DP:GQ:PL 0/1:14,17:31:99:468,0,504
1 26648838 rs11247914 G T 458.37 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.528;DB;DP=28;Dels=0.0;FS=6.185;HRun=0;HaplotypeScore=0.0;MQ=59.17;MQ0=0;MQRankSum=-2.274;QD=16.37;ReadPosRankSum=-1.677;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD52;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374213 GT:AD:DP:GQ:PL 0/1:14,14:28:99:488,0,408
1 26650550 rs11247915 C A 192.60 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.794;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.637;QD=12.84;ReadPosRankSum=0.405;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AIM1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000520372 GT:AD:DP:GQ:PL 0/1:8,7:15:99:223,0,282
1 26654937 rs11589684 G C 93.72 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.24;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AIM1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000520372 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:126,9,0
1 26655208 rs11247916 C T 2873.68 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.693;DB;DP=91;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=3.2054;MQ=59.8;MQ0=0;MQRankSum=0.603;QD=31.58;ReadPosRankSum=0.487;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AIM1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000522923 GT:AD:DP:GQ:PL 1/1:1,90:91:99:2907,223,0
1 26655462 rs12057290 C T 334.72 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=55.69;MQ0=0;QD=33.47;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AIM1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000522923 GT:AD:DP:GQ:PL 1/1:0,10:10:30.08:368,30,0
1 26655507 rs11247917 C A 224.28 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.28;MQ0=0;QD=32.04;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AIM1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000522923 GT:AD:DP:GQ:PL 1/1:0,7:7:21.04:257,21,0
1 26657685 rs4659372 C T 46.38 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.19;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AIM1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000522923 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:78,6,0
1 26662774 rs7517559 C T 232.99 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.12;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AIM1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000522993 GT:AD:DP:GQ:PL 1/1:0,8:8:21.06:266,21,0
1 26663362 rs10751735 C T 234.30 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.39;MQ0=0;QD=26.03;SNPEFF_AMINO_ACID_CHANGE=S249N;SNPEFF_CODON_CHANGE=aGc/aAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_26663332_26663471;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AIM1L;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000308182 GT:AD:DP:GQ:PL 1/1:0,9:9:21.06:267,21,0
1 26664916 rs141805601 G T 342.26 PASS AB=0.708;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.079;DB;DP=48;Dels=0.0;FS=2.988;HRun=2;HaplotypeScore=0.734;MQ=59.52;MQ0=0;MQRankSum=1.554;QD=7.13;ReadPosRankSum=0.987;SNPEFF_AMINO_ACID_CHANGE=P259T;SNPEFF_CODON_CHANGE=Cct/Act;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_26664842_26664968;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AIM1L;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000527815 GT:AD:DP:GQ:PL 0/1:34,14:48:99:372,0,1120
1 26664968 rs11247919 C T 1213.53 PASS AB=0.317;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.477;DB;DP=61;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9945;MQ=60.0;MQ0=0;MQRankSum=-0.81;QD=19.89;ReadPosRankSum=0.556;SNPEFF_AMINO_ACID_CHANGE=L241;SNPEFF_CODON_CHANGE=ctG/ctA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_26664842_26664968;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AIM1L;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000527815 GT:AD:DP:GQ:PL 0/1:19,41:61:99:1244,0,505
1 26665991 rs6675432 C G 254.65 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.83;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AIM1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374207 GT:AD:DP:GQ:PL 1/1:0,8:8:21.07:288,21,0
1 26671084 rs12562454 G T 250.11 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.766;DB;DP=20;Dels=0.0;FS=4.32;HRun=0;HaplotypeScore=0.0;MQ=58.11;MQ0=0;MQRankSum=-0.372;QD=12.51;ReadPosRankSum=0.041;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AIM1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475866 GT:AD:DP:GQ:PL 0/1:8,12:20:99:280,0,248
1 26673076 rs11247924 G A 58.87 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=1.203;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.573;QD=6.54;ReadPosRankSum=-0.573;SNPEFF_AMINO_ACID_CHANGE=R25W;SNPEFF_CODON_CHANGE=Cgg/Tgg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_26671751_26673203;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AIM1L;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000475866 GT:AD:DP:GQ:PL 0/1:6,3:9:88.86:89,0,119
1 26673108 rs11247925 C T 33.40 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.231;QD=6.68;ReadPosRankSum=0.358;SNPEFF_AMINO_ACID_CHANGE=R14Q;SNPEFF_CODON_CHANGE=cGa/cAa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_26673104_26673148;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AIM1L;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000449629 GT:AD:DP:GQ:PL 0/1:3,2:5:63.40:63,0,93
1 26688181 rs11583897 G C 1894.87 PASS AB=0.579;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.967;DB;DP=203;Dels=0.0;FS=8.369;HRun=3;HaplotypeScore=5.0928;MQ=59.77;MQ0=0;MQRankSum=0.325;QD=9.33;ReadPosRankSum=-1.798;SNPEFF_AMINO_ACID_CHANGE=A492;SNPEFF_CODON_CHANGE=gcC/gcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_26688128_26688513;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF683;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000349618 GT:AD:DP:GQ:PL 0/1:117,85:203:99:1925,0,3446
1 26690864 rs7534104 G T 314.31 PASS AB=0.231;AC=1;AF=0.50;AN=2;BaseQRankSum=2.451;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.93;QD=24.18;ReadPosRankSum=-0.423;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF683;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000416125 GT:AD:DP:GQ:PL 0/1:3,10:13:66.80:344,0,67
1 26694245 rs10794531 T C 228.31 PASS AB=0.437;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.905;DB;DP=16;Dels=0.0;FS=12.208;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.212;QD=14.27;ReadPosRankSum=-1.164;SNPEFF_AMINO_ACID_CHANGE=H53R;SNPEFF_CODON_CHANGE=cAt/cGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_26694084_26694288;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF683;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000349618 GT:AD:DP:GQ:PL 0/1:7,9:16:99:258,0,205
1 26694260 rs10794532 T C 185.85 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=0.965;DB;DP=14;Dels=0.0;FS=16.782;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.386;QD=13.28;ReadPosRankSum=-0.865;SNPEFF_AMINO_ACID_CHANGE=D48G;SNPEFF_CODON_CHANGE=gAc/gGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_26694084_26694288;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF683;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000349618 GT:AD:DP:GQ:PL 0/1:6,8:14:99:216,0,164
1 26695295 rs6694289 G A 49.41 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.7;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF683;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000349618 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
1 26698884 rs11247936 T C 147.11 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=2.637;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9989;MQ=60.0;MQ0=0;MQRankSum=1.031;QD=13.37;ReadPosRankSum=-0.717;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF683;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000349618 GT:AD:DP:GQ:PL 0/1:6,5:11:99:177,0,214
1 26698938 rs6703878 A G 374.42 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.648;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.88;QD=13.37;ReadPosRankSum=0.395;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF683;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000349618 GT:AD:DP:GQ:PL 0/1:16,12:28:99:404,0,579
1 26699103 rs11584185 T C 732.56 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.095;DB;DP=45;Dels=0.0;FS=8.033;HRun=1;HaplotypeScore=0.0;MQ=59.59;MQ0=0;MQRankSum=0.537;QD=16.28;ReadPosRankSum=0.24;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF683;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000349618 GT:AD:DP:GQ:PL 0/1:20,25:45:99:763,0,623
1 26699157 rs11247937 T C 173.77 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=0.984;DB;DP=15;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.405;QD=11.58;ReadPosRankSum=0.174;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF683;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000349618 GT:AD:DP:GQ:PL 0/1:8,7:15:99:204,0,235
1 26700795 rs7520030 T C 1270.80 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=1.5661;MQ=60.0;MQ0=0;QD=29.55;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF683;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000349618 GT:AD:DP:GQ:PL 1/1:0,43:43:99:1304,99,0
1 26752992 rs4659441 T C 207.27 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.366;DB;DP=15;Dels=0.0;FS=6.99;HRun=0;HaplotypeScore=0.0;MQ=58.45;MQ0=0;MQRankSum=0.0;QD=13.82;ReadPosRankSum=-0.209;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LIN28A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000254231 GT:AD:DP:GQ:PL 0/1:7,8:15:99:237,0,236
1 26800490 rs114289390 C T 497.25 PASS AB=0.367;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.559;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.861;QD=16.58;ReadPosRankSum=-1.506;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=DHDDS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236342 GT:AD:DP:GQ:PL 0/1:11,19:30:99:527,0,376
1 26801229 rs72651510 C A 153.17 PASS AB=0.437;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.964;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.318;QD=9.57;ReadPosRankSum=-1.164;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=DHDDS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360009 GT:AD:DP:GQ:PL 0/1:7,9:16:99:183,0,252
1 26801762 . G T 74.87 PASS AB=0.688;AC=1;AF=0.50;AN=2;BaseQRankSum=1.473;DP=16;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.8667;MQ=48.25;MQ0=0;MQRankSum=-0.227;QD=4.68;ReadPosRankSum=2.039;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=DHDDS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360009 GT:AD:DP:GQ:PL 0/1:11,5:16:95.31:105,0,95
1 26873245 rs2278978 A G 73.55 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;QD=24.52;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=RPS6KA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374162 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:106,9,0
1 26879792 rs4970489 T C 955.73 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9665;MQ=59.11;MQ0=0;QD=36.76;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=RPS6KA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000524436 GT:AD:DP:GQ:PL 1/1:0,26:26:75.24:989,75,0
1 26879920 rs4970490 T C 2055.21 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.3;MQ0=0;QD=31.14;SNPEFF_AMINO_ACID_CHANGE=A153;SNPEFF_CODON_CHANGE=gcT/gcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_26879882_26879988;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=RPS6KA1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000530003 GT:AD:DP:GQ:PL 1/1:0,66:66:99:2088,159,0
1 26900428 rs72203886 C CA 134.72 PASS AB=0.619;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.536;DB;DP=13;FS=0.0;HRun=13;HaplotypeScore=40.7123;IndelType=I;MQ=58.2;MQ0=0;MQRankSum=-0.289;QD=10.36;ReadPosRankSum=-0.289;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=RPS6KA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374164 GT:AD:DP:GQ:PL 0/1:5,7:13:46.46:174,0,46
1 26900708 rs2229714 G A 675.11 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=2.016;DB;DP=52;Dels=0.0;FS=9.174;HRun=0;HaplotypeScore=0.0;MQ=59.56;MQ0=0;MQRankSum=1.713;QD=12.98;ReadPosRankSum=-0.312;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=RPS6KA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374164 GT:AD:DP:GQ:PL 0/1:28,24:52:99:705,0,793
1 26900735 rs282179 C G 1353.38 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.41;MQ0=0;QD=34.7;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=RPS6KA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374164 GT:AD:DP:GQ:PL 1/1:0,39:39:99:1386,105,0
1 26900805 rs12121702 G A 386.98 PASS AB=0.65;AC=1;AF=0.50;AN=2;BaseQRankSum=2.739;DB;DP=41;Dels=0.0;FS=1.457;HRun=0;HaplotypeScore=0.0;MQ=58.87;MQ0=0;MQRankSum=-0.923;QD=9.44;ReadPosRankSum=-1.044;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=RPS6KA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374164 GT:AD:DP:GQ:PL 0/1:26,14:41:99:417,0,749
1 26900920 rs12118436 A T 595.55 PASS AB=0.639;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.003;DB;DP=61;Dels=0.0;FS=9.999;HRun=0;HaplotypeScore=2.6834;MQ=59.62;MQ0=0;MQRankSum=-1.149;QD=9.76;ReadPosRankSum=1.019;SNPEFF_AMINO_ACID_CHANGE=N112Y;SNPEFF_CODON_CHANGE=Aac/Tac;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_26900868_26901225;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=RPS6KA1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000438977 GT:AD:DP:GQ:PL 0/1:39,22:61:99:626,0,994
1 27057621 rs41303629 A C 1215.26 PASS AB=0.516;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.709;DB;DP=95;Dels=0.0;FS=2.219;HRun=0;HaplotypeScore=0.0;MQ=59.51;MQ0=0;MQRankSum=1.597;QD=12.79;ReadPosRankSum=-1.097;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARID1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000324856 GT:AD:DP:GQ:PL 0/1:49,46:95:99:1245,0,1671
1 27089446 rs34681611 G C 156.21 PASS AB=0.727;AC=1;AF=0.50;AN=2;BaseQRankSum=1.806;DB;DP=22;Dels=0.0;FS=5.348;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.405;QD=7.1;ReadPosRankSum=0.037;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARID1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000324856 GT:AD:DP:GQ:PL 0/1:16,6:22:99:186,0,587
1 27100243 rs35428899 C T 2196.90 PASS AB=0.493;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.019;DB;DP=142;Dels=0.0;FS=2.485;HRun=1;HaplotypeScore=0.0;MQ=59.91;MQ0=0;MQRankSum=0.443;QD=15.47;ReadPosRankSum=-1.561;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARID1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000324856 GT:AD:DP:GQ:PL 0/1:70,72:142:99:2227,0,2177
1 27107263 rs3841356 T TC 244.81 PASS AB=0.729;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.222;DB;DP=35;FS=3.492;HRun=9;HaplotypeScore=118.5723;IndelType=I;MQ=59.3;MQ0=0;MQRankSum=0.765;QD=6.99;ReadPosRankSum=-0.814;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARID1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374152 GT:AD:DP:GQ:PL 0/1:22,13:35:99:284,0,335
1 27158844 rs34924059 G T 937.38 PASS AB=0.327;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.375;DB;DP=49;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.53;MQ0=0;MQRankSum=0.949;QD=19.13;ReadPosRankSum=0.267;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZDHHC18;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374141 GT:AD:DP:GQ:PL 0/1:16,33:49:99:967,0,459
1 27174966 rs17162311 A G 244.33 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.722;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9916;MQ=58.71;MQ0=0;MQRankSum=-0.529;QD=13.57;ReadPosRankSum=0.144;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZDHHC18;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374141 GT:AD:DP:GQ:PL 0/1:9,9:18:99:274,0,314
1 27190324 rs11542704 C T 705.55 PASS AB=0.542;AC=1;AF=0.50;AN=2;BaseQRankSum=0.915;DB;DP=59;Dels=0.0;FS=3.642;HRun=0;HaplotypeScore=0.0;MQ=59.61;MQ0=0;MQRankSum=-0.195;QD=11.96;ReadPosRankSum=-0.539;SNPEFF_AMINO_ACID_CHANGE=T175;SNPEFF_CODON_CHANGE=acC/acT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_27190055_27190450;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SFN;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000538651 GT:AD:DP:GQ:PL 0/1:32,27:59:99:736,0,959
1 27210721 rs3170660 T C 942.01 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.23;MQ0=0;QD=31.4;SNPEFF_AMINO_ACID_CHANGE=R264G;SNPEFF_CODON_CHANGE=Aga/Gga;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_27210651_27210781;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPN2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000374135 GT:AD:DP:GQ:PL 1/1:0,30:30:81.23:975,81,0
1 27212239 rs35866833 T C 32.75 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.026;QD=8.19;ReadPosRankSum=1.026;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPATCH3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361720 GT:AD:DP:GQ:PL 0/1:2,2:4:62.74:63,0,70
1 27215784 rs910048 C T 72.72 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=8;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.24;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPATCH3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361720 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:105,9,0
1 27220019 . GC G 79.40 QDFilter2 AB=0.905;AC=1;AF=0.50;AN=2;BaseQRankSum=4.482;DP=76;FS=0.0;HRun=1;HaplotypeScore=751.2708;IndelType=D;MQ=47.51;MQ0=0;MQRankSum=-5.687;QD=1.04;ReadPosRankSum=-0.973;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPATCH3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361720 GT:AD:DP:GQ:PL 0/1:64,5:76:99:118,0,835
1 27220521 rs11810321 T G 98.18 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.922;DB;DP=7;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.922;QD=14.03;ReadPosRankSum=-0.922;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPATCH3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361720 GT:AD:DP:GQ:PL 0/1:2,5:7:64.94:128,0,65
1 27239920 rs6659176 C G 243.94 PASS AB=0.611;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.234;DB;DP=36;Dels=0.0;FS=1.44;HRun=0;HaplotypeScore=0.9332;MQ=59.36;MQ0=0;MQRankSum=-0.534;QD=6.78;ReadPosRankSum=-0.203;SNPEFF_AMINO_ACID_CHANGE=G171A;SNPEFF_CODON_CHANGE=gGg/gCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_27239900_27240457;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NR0B2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000254227 GT:AD:DP:GQ:PL 0/1:22,14:36:99:274,0,642
1 27248283 rs11538549 C G 67.44 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=51.77;MQ0=0;QD=22.48;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NUDC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000435827 GT:AD:DP:GQ:PL 1/1:0,3:3:9:99,9,0
1 27248440 rs35108146 C T 85.86 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.62;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NUDC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000321265 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:118,9,0
1 27248645 rs10493037 A G 43.95 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.98;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NUDC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000321265 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:75,6,0
1 27272600 rs140706431 A ATCT 1626.07 PASS AB=0.646;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.981;DB;DP=50;FS=2.866;HRun=0;HaplotypeScore=147.6799;IndelType=I;MQ=58.81;MQ0=0;MQRankSum=-0.161;QD=31.88;ReadPosRankSum=-1.087;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf172;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000320567 GT:AD:DP:GQ:PL 0/1:23,28:50:99:1665,0,825
1 27278573 rs17360994 T C 214.44 PASS AB=0.579;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.466;DB;DP=19;Dels=0.0;FS=1.957;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.578;QD=11.29;ReadPosRankSum=0.222;SNPEFF_AMINO_ACID_CHANGE=Q100R;SNPEFF_CODON_CHANGE=cAg/cGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_27277833_27278903;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf172;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000320567 GT:AD:DP:GQ:PL 0/1:11,8:19:99:244,0,339
1 27306825 rs12737292 G A 228.18 PASS AB=0.613;AC=1;AF=0.50;AN=2;BaseQRankSum=0.75;DB;DP=31;Dels=0.0;FS=1.451;HRun=1;HaplotypeScore=0.0;MQ=57.74;MQ0=0;MQRankSum=0.142;QD=7.36;ReadPosRankSum=0.142;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP11-344H11.4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310055 GT:AD:DP:GQ:PL 0/1:19,12:31:99:258,0,583
1 27332465 rs61737591 G A 303.71 HaplotypeScoreFilter13 AB=0.382;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.532;DB;DP=35;Dels=0.03;FS=0.0;HRun=0;HaplotypeScore=13.2297;MQ=58.71;MQ0=0;MQRankSum=1.099;QD=8.44;ReadPosRankSum=-1.418;SNPEFF_AMINO_ACID_CHANGE=H416;SNPEFF_CODON_CHANGE=caC/caT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_27331511_27333448;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM46B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000289166 GT:AD:DP:GQ:PL 0/1:13,21:35:99:334,0,381
1 27332466 rs61737590 T C 298.96 PASS AB=0.371;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.495;DB;DP=35;Dels=0.03;FS=1.412;HRun=0;HaplotypeScore=12.2632;MQ=58.71;MQ0=0;MQRankSum=0.734;QD=8.3;ReadPosRankSum=-1.28;SNPEFF_AMINO_ACID_CHANGE=H416R;SNPEFF_CODON_CHANGE=cAc/cGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_27331511_27333448;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM46B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000289166 GT:AD:DP:GQ:PL 0/1:13,22:35:99:329,0,372
1 27426796 rs4266911 T C 242.44 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=0.818;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.107;QD=13.47;ReadPosRankSum=-0.529;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000447808 GT:AD:DP:GQ:PL 0/1:8,10:18:99:272,0,231
1 27427041 rs4418629 T C 2072.61 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.778;DB;DP=158;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.4725;MQ=59.71;MQ0=0;MQRankSum=-0.8;QD=13.12;ReadPosRankSum=0.339;SNPEFF_AMINO_ACID_CHANGE=E156;SNPEFF_CODON_CHANGE=gaA/gaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_27426836_27427135;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000447808 GT:AD:DP:GQ:PL 0/1:85,73:158:99:2103,0,2575
1 27428321 rs6598870 T C 271.24 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.953;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.895;QD=11.3;ReadPosRankSum=0.837;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374086 GT:AD:DP:GQ:PL 0/1:12,12:24:99:301,0,321
1 27435976 rs3738689 C G 265.43 PASS AB=0.484;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.561;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=59.4;MQ0=0;MQRankSum=-1.861;QD=8.56;ReadPosRankSum=0.345;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374084 GT:AD:DP:GQ:PL 0/1:15,16:31:99:295,0,419
1 27480293 rs6697059 G C 79.42 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=6.021;HRun=0;HaplotypeScore=0.0;MQ=55.16;MQ0=0;MQRankSum=0.727;QD=19.86;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263980 GT:AD:DP:GQ:PL 0/1:1,3:4:27.97:109,0,28
1 27480757 rs34306208 A G 510.20 PASS AB=0.558;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.553;DB;DP=43;Dels=0.0;FS=6.822;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.159;QD=11.87;ReadPosRankSum=1.235;SNPEFF_AMINO_ACID_CHANGE=V23;SNPEFF_CODON_CHANGE=gtT/gtC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_27480474_27481401;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000263980 GT:AD:DP:GQ:PL 0/1:24,19:43:99:540,0,713
1 27609980 rs6670124 T G 253.25 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=39.51;MQ0=0;QD=11.01;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDTC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000319394 GT:AD:DP:GQ:PL 1/1:0,23:23:21.07:286,21,0
1 27610069 rs10902656 C T 162.92 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.15;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDTC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000319394 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:196,15,0
1 27623276 . A ACCCTAGCCCCAGCCCCAG 473.42 PASS AC=2;AF=1.00;AN=2;DP=8;FS=0.0;HRun=0;HaplotypeScore=84.3438;IndelType=I;MQ=63.01;MQ0=0;QD=59.18;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDTC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000319394 GT:AD:DP:GQ:PL 1/1:1,3:8:21.07:515,21,0
1 27659965 rs6687283 C T 414.40 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.05;MQ0=0;QD=34.53;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM222;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374073 GT:AD:DP:GQ:PL 1/1:0,12:12:33.11:447,33,0
1 27659989 rs35397588 G A 226.12 PASS AB=0.111;AC=1;AF=0.50;AN=2;BaseQRankSum=0.751;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.751;QD=25.12;ReadPosRankSum=0.751;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM222;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374073 GT:AD:DP:GQ:PL 0/1:1,8:9:17.68:256,0,18
1 27660568 rs35771571 G A 412.94 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.571;DB;DP=26;Dels=0.0;FS=6.239;HRun=0;HaplotypeScore=0.9979;MQ=57.46;MQ0=0;MQRankSum=2.257;QD=15.88;ReadPosRankSum=1.224;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM222;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374073 GT:AD:DP:GQ:PL 0/1:13,13:26:99:443,0,350
1 27661707 rs4539159 T C 36.72 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.231;QD=7.34;ReadPosRankSum=-1.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM222;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374073 GT:AD:DP:GQ:PL 0/1:3,2:5:66.72:67,0,111
1 27661755 rs71294466 T TGTA 493.85 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=12;FS=0.0;HRun=0;HaplotypeScore=46.1808;IndelType=I;MQ=54.94;MQ0=0;MQRankSum=-0.978;QD=41.15;ReadPosRankSum=-1.106;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM222;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374073 GT:AD:DP:GQ:PL 0/1:4,8:12:99:533,0,126
1 27676925 rs6702341 G A 1306.80 PASS AB=0.489;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.91;DB;DP=94;Dels=0.0;FS=0.798;HRun=2;HaplotypeScore=0.734;MQ=59.75;MQ0=0;MQRankSum=-1.547;QD=13.9;ReadPosRankSum=1.29;SNPEFF_AMINO_ACID_CHANGE=K306;SNPEFF_CODON_CHANGE=aaG/aaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_27676880_27676976;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SYTL1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000318074 GT:AD:DP:GQ:PL 0/1:46,48:94:99:1337,0,1418
1 27679692 rs11247639 A G 49.99 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAP3K6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357582 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
1 27679797 rs3813795 A G 144.03 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.81;SNPEFF_AMINO_ACID_CHANGE=Q444R;SNPEFF_CODON_CHANGE=cAg/cGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_27679774_27679979;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SYTL1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000318074 GT:AD:DP:GQ:PL 1/1:0,5:5:15.04:177,15,0
1 27679954 rs1128918 G A 198.99 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.43;SNPEFF_AMINO_ACID_CHANGE=G496;SNPEFF_CODON_CHANGE=ggG/ggA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_27679774_27679979;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SYTL1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000318074 GT:AD:DP:GQ:PL 1/1:0,7:7:18.06:232,18,0
1 27680292 rs8533 A G 1007.63 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.95;MQ0=0;QD=31.49;SNPEFF_AMINO_ACID_CHANGE=E534;SNPEFF_CODON_CHANGE=gaA/gaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_27680204_27680421;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SYTL1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000318074 GT:AD:DP:GQ:PL 1/1:0,32:32:78.25:1041,78,0
1 27682126 rs12742921 T C 446.79 PASS AB=0.448;AC=1;AF=0.50;AN=2;BaseQRankSum=2.165;DB;DP=29;Dels=0.0;FS=7.04;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.737;QD=15.41;ReadPosRankSum=0.967;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAP3K6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000476509 GT:AD:DP:GQ:PL 0/1:13,16:29:99:477,0,421
1 27682440 rs36035221 T TG 557.59 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=2.071;DB;DP=18;FS=0.0;HRun=1;HaplotypeScore=85.0512;IndelType=I;MQ=59.93;MQ0=0;MQRankSum=0.372;QD=30.98;ReadPosRankSum=-1.54;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAP3K6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000476509 GT:AD:DP:GQ:PL 0/1:4,14:18:99:597,0,114
1 27682481 rs12569127 G A 466.74 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.704;DB;DP=24;Dels=0.0;FS=2.299;HRun=0;HaplotypeScore=0.0;MQ=59.94;MQ0=0;MQRankSum=-0.031;QD=19.45;ReadPosRankSum=1.439;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAP3K6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000476509 GT:AD:DP:GQ:PL 0/1:8,16:24:99:497,0,212
1 27686063 rs7521552 G C 454.75 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.98;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAP3K6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357582 GT:AD:DP:GQ:PL 1/1:0,13:13:36.12:488,36,0
1 27687466 rs35659744 G T 63.63 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.55;DB;DP=7;Dels=0.0;FS=3.136;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.55;QD=9.09;ReadPosRankSum=1.3;SNPEFF_AMINO_ACID_CHANGE=N345K;SNPEFF_CODON_CHANGE=aaC/aaA;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_27687412_27687499;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAP3K6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000545447 GT:AD:DP:GQ:PL 0/1:4,3:7:93.63:94,0,107
1 27688633 rs1138294 G A 166.86 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.78;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.71;MQ0=0;MQRankSum=-0.241;QD=9.27;ReadPosRankSum=-1.395;SNPEFF_AMINO_ACID_CHANGE=T178I;SNPEFF_CODON_CHANGE=aCc/aTc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_27688582_27688741;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAP3K6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000545447 GT:AD:DP:GQ:PL 0/1:9,9:18:99:197,0,291
1 27690644 rs12727507 A G 178.56 PASS AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.817;DB;DP=19;Dels=0.0;FS=4.561;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.449;QD=9.4;ReadPosRankSum=0.776;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FCN3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270879 GT:AD:DP:GQ:PL 0/1:10,9:19:99:209,0,314
1 27696011 rs10218730 C T 652.31 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.64;MQ0=0;QD=36.24;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FCN3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481748 GT:AD:DP:GQ:PL 1/1:0,18:18:51.16:685,51,0
1 27699449 rs10794501 A T 452.19 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.68;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FCN3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481748 GT:AD:DP:GQ:PL 1/1:0,12:12:36.12:485,36,0
1 27720178 rs2504786 T C 593.78 PASS AB=0.452;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.227;DB;DP=42;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.606;QD=14.14;ReadPosRankSum=0.505;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374024 GT:AD:DP:GQ:PL 0/1:19,23:42:99:624,0,632
1 27874042 . G A 133.87 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=1.369;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.55;MQ0=0;MQRankSum=0.935;QD=10.3;ReadPosRankSum=-0.935;SNPEFF_AMINO_ACID_CHANGE=R1529C;SNPEFF_CODON_CHANGE=Cgt/Tgt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_27873772_27878700;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AHDC1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000247087 GT:AD:DP:GQ:PL 0/1:7,6:13:99:164,0,230
1 27875824 rs4908364 C T 842.41 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.4;SNPEFF_AMINO_ACID_CHANGE=A935T;SNPEFF_CODON_CHANGE=Gct/Act;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_27873772_27878700;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AHDC1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000247087 GT:AD:DP:GQ:PL 1/1:0,26:26:66.21:875,66,0
1 27876482 rs2076457 C A 238.09 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=1.774;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.157;QD=17.01;ReadPosRankSum=1.774;SNPEFF_AMINO_ACID_CHANGE=P715;SNPEFF_CODON_CHANGE=ccG/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_27873772_27878700;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AHDC1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000247087 GT:AD:DP:GQ:PL 0/1:4,10:14:74.99:268,0,75
1 27942176 rs2231879 T C 81.29 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.54;DB;DP=15;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.157;QD=5.42;ReadPosRankSum=-1.003;SNPEFF_EFFECT=SPLICE_SITE_ACCEPTOR;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FGR;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000469062 GT:AD:DP:GQ:PL 0/1:10,5:15:99:111,0,295
1 27943308 rs761069 T C 428.76 PASS AB=0.553;AC=1;AF=0.50;AN=2;BaseQRankSum=2.407;DB;DP=47;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.9999;MQ=60.0;MQ0=0;MQRankSum=1.038;QD=9.12;ReadPosRankSum=-1.081;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FGR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374003 GT:AD:DP:GQ:PL 0/1:26,21:47:99:459,0,908
1 27947840 rs74317741 C T 48.08 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.04;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FGR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468038 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
1 27995077 rs56015130 G T 151.88 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IFI6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000339145 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:185,15,0
1 28086955 rs10902671 C A 611.54 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.97;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM76A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000446647 GT:AD:DP:GQ:PL 1/1:0,17:17:48.16:645,48,0
1 28206588 rs12568383 T C 406.49 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.03;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf38;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427466 GT:AD:DP:GQ:PL 1/1:0,14:14:39.06:439,39,0
1 28209305 rs3766398 A G 1776.02 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.734;MQ=60.0;MQ0=0;QD=32.29;SNPEFF_AMINO_ACID_CHANGE=L361;SNPEFF_CODON_CHANGE=ctA/ctG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_28209024_28209554;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf38;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000328928 GT:AD:DP:GQ:PL 1/1:0,55:55:99:1809,141,0
1 28209362 rs3766399 T C 1528.80 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.85;SNPEFF_AMINO_ACID_CHANGE=V380;SNPEFF_CODON_CHANGE=gtT/gtC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_28209024_28209554;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf38;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000328928 GT:AD:DP:GQ:PL 1/1:0,53:53:99:1562,123,0
1 28209366 rs3766400 A G 1667.02 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.06;SNPEFF_AMINO_ACID_CHANGE=K382E;SNPEFF_CODON_CHANGE=Aag/Gag;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_28209024_28209554;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf38;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000328928 GT:AD:DP:GQ:PL 1/1:0,52:52:99:1700,129,0
1 28211650 rs1467464 T C 132.19 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.05;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf38;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000442118 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:165,12,0
1 28212272 rs11247705 G A 208.51 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.17;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf38;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000442118 GT:AD:DP:GQ:PL 1/1:0,9:9:18.06:241,18,0
1 28220484 rs17257252 C A 695.98 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.63;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RPA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000444045 GT:AD:DP:GQ:PL 1/1:0,19:19:57.18:729,57,0
1 28224312 rs2295367 C T 172.13 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.59;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RPA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313433 GT:AD:DP:GQ:PL 1/1:0,7:7:15.05:205,15,0
1 28233289 rs6598912 G A 47.79 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.89;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RPA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313433 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
1 28261648 . C G 108.15 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.361;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.729;QD=12.02;ReadPosRankSum=-0.361;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMPDL3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466793 GT:AD:DP:GQ:PL 0/1:5,4:9:99:138,0,131
1 28281924 rs3813805 G A 46.56 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=15.52;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMPDL3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373888 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:78,6,0
1 28282292 rs3813803 T C 2152.04 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.16;SNPEFF_AMINO_ACID_CHANGE=V215A;SNPEFF_CODON_CHANGE=gTc/gCc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_28282195_28282375;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMPDL3B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000412515 GT:AD:DP:GQ:PL 1/1:0,63:63:99:2185,163,0
1 28282819 rs4908381 T C 553.21 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.23;MQ0=0;QD=32.54;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMPDL3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000411604 GT:AD:DP:GQ:PL 1/1:0,17:17:48.14:586,48,0
1 28290231 rs4373781 C G 108.40 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.95;MQ0=0;QD=27.1;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMPDL3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373890 GT:AD:DP:GQ:PL 1/1:0,4:4:12.02:141,12,0
1 28369279 rs2476547 G A 202.60 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.521;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.984;QD=12.66;ReadPosRankSum=0.752;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EYA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373863 GT:AD:DP:GQ:PL 0/1:8,8:16:99:233,0,277
1 28520161 rs905908 C T 490.92 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.68;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTAFR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000305392 GT:AD:DP:GQ:PL 1/1:0,16:16:42.13:524,42,0
1 28527011 rs1049504 A G 438.95 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.77;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AL353354.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000321830 GT:AD:DP:GQ:PL 1/1:0,13:13:39.11:472,39,0
1 28537245 rs41311280 C T 388.14 PASS AB=0.478;AC=1;AF=0.50;AN=2;BaseQRankSum=4.031;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.016;QD=16.88;ReadPosRankSum=-1.262;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAJC8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263697 GT:AD:DP:GQ:PL 0/1:11,12:23:99:418,0,294
1 28555281 rs77508142 A T 180.79 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=2.001;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.194;QD=11.3;ReadPosRankSum=-0.323;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAJC8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263697 GT:AD:DP:GQ:PL 0/1:9,6:16:99:211,0,281
1 28555426 rs567086 G A 3859.26 PASS AC=2;AF=1.00;AN=2;DB;DP=110;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.39;MQ0=0;QD=35.08;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAJC8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263697 GT:AD:DP:GQ:PL 1/1:0,110:110:99:3859,283,0
1 28555579 rs3753863 C A 610.44 PASS AB=0.355;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.374;DB;DP=31;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.929;QD=19.69;ReadPosRankSum=0.392;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAJC8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263697 GT:AD:DP:GQ:PL 0/1:11,20:31:99:640,0,352
1 28559232 rs559509 T C 43.46 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.73;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAJC8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263697 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:75,6,0
1 28559574 rs510803 C G 175.13 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=0.78;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.068;QD=11.68;ReadPosRankSum=0.068;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATPIF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000335514 GT:AD:DP:GQ:PL 0/1:8,7:15:99:205,0,213
1 28562676 rs12154 A G 112.62 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.267;DB;DP=14;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.841;MQ=60.0;MQ0=0;MQRankSum=0.4;QD=8.04;ReadPosRankSum=0.133;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAJC8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263697 GT:AD:DP:GQ:PL 0/1:9,5:14:99:143,0,287
1 28564252 rs8559 A G 310.63 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.06;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATPIF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000417632 GT:AD:DP:GQ:PL 1/1:0,10:10:27.09:344,27,0
1 28564279 rs9508 A G 245.20 PASS AB=0.438;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.646;DB;DP=16;Dels=0.0;FS=2.596;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=15.33;ReadPosRankSum=0.106;SNPEFF_AMINO_ACID_CHANGE=R63G;SNPEFF_CODON_CHANGE=Agg/Ggg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_28564272_28564616;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATPIF1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000497986 GT:AD:DP:GQ:PL 0/1:7,9:16:99:275,0,244
1 28696392 rs6703793 C G 45.91 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.96;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PHACTR4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373839 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:77,6,0
1 28733993 rs12091029 G T 1764.73 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9916;MQ=59.69;MQ0=0;QD=29.41;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PHACTR4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373839 GT:AD:DP:GQ:PL 1/1:0,60:60:99:1798,135,0
1 28765094 rs61783845 G A 218.11 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.35;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PHACTR4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373836 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:251,18,0
1 28800380 rs61785974 C A 2897.10 PASS AC=2;AF=1.00;AN=2;DB;DP=78;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=59.7;MQ0=0;QD=37.14;SNPEFF_AMINO_ACID_CHANGE=L379I;SNPEFF_CODON_CHANGE=Cta/Ata;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_28800066_28800663;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PHACTR4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000373838 GT:AD:DP:GQ:PL 1/1:0,78:78:99:2930,220,0
1 28817597 rs10915235 A G 506.71 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.19;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PHACTR4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373836 GT:AD:DP:GQ:PL 1/1:0,14:14:39.13:540,39,0
1 28822804 rs10915180 T G 90.61 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=40.55;MQ0=0;QD=22.65;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PHACTR4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373836 GT:AD:DP:GQ:PL 1/1:0,4:4:12.02:123,12,0
1 28834154 rs2840759 G T 281.60 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=53.95;MQ0=0;QD=23.47;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RCC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373833 GT:AD:DP:GQ:PL 1/1:0,12:12:24.08:315,24,0
1 28843318 rs79722995 A G 301.68 PASS AB=0.565;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.326;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.155;QD=13.12;ReadPosRankSum=1.147;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RCC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398958 GT:AD:DP:GQ:PL 0/1:13,10:23:99:332,0,399
1 28861636 rs2066726 G A 1222.40 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.56;SNPEFF_AMINO_ACID_CHANGE=V172;SNPEFF_CODON_CHANGE=gtG/gtA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_28861562_28861658;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RCC1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000373832 GT:AD:DP:GQ:PL 1/1:0,40:40:99:1255,99,0
1 28863075 rs4654325 A G 254.08 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.76;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RCC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000419074 GT:AD:DP:GQ:PL 1/1:0,8:8:21.07:287,21,0
1 28887031 rs10915245 A G 272.52 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.28;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRNAU1AP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373830 GT:AD:DP:GQ:PL 1/1:0,9:9:27.07:306,27,0
1 28898298 . A AAT 150.56 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.278;DP=12;FS=0.0;HRun=0;HaplotypeScore=114.0731;IndelType=I;MQ=43.19;MQ0=0;MQRankSum=1.769;QD=12.55;ReadPosRankSum=-1.034;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRNAU1AP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000495215 GT:AD:DP:GQ:PL 0/1:6,6:12:26.93:190,0,27
1 28905566 rs1342086 G C 40.99 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.5;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRNAU1AP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373830 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:72,6,0
1 29063559 rs6697540 A C 104.96 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=47.12;MQ0=0;QD=26.24;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=YTHDF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474884 GT:AD:DP:GQ:PL 1/1:0,4:4:12.02:137,12,0
1 29064036 rs61787567 C T 65.20 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.248;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.573;QD=7.24;ReadPosRankSum=2.054;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=YTHDF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373812 GT:AD:DP:GQ:PL 0/1:6,3:9:95.20:95,0,184
1 29065039 rs6704457 T C 45.05 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.53;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=YTHDF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373812 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:76,6,0
1 29070856 rs17340752 A G 34.83 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.72;QD=5.8;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=YTHDF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000396232 GT:AD:DP:GQ:PL 0/1:4,2:6:64.82:65,0,147
1 29189597 rs2234918 C T 38.30 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.406;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.406;QD=6.38;ReadPosRankSum=-1.537;SNPEFF_AMINO_ACID_CHANGE=G259;SNPEFF_CODON_CHANGE=ggC/ggT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_29189490_29189795;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OPRD1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000536280 GT:AD:DP:GQ:PL 0/1:3,3:6:68.30:68,0,102
1 29345009 rs5773229 C CTT 1056.19 PASS AC=2;AF=1.00;AN=2;DB;DP=18;FS=0.0;HRun=0;HaplotypeScore=51.167;IndelType=I;MQ=58.63;MQ0=0;QD=58.68;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPB41;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343067 GT:AD:DP:GQ:PL 1/1:0,18:18:54.19:1098,54,0
1 29345027 rs2985334 T G 38.81 PASS AB=0.813;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.269;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.46;MQ0=0;MQRankSum=-0.538;QD=2.43;ReadPosRankSum=-1.345;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPB41;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343067 GT:AD:DP:GQ:PL 0/1:13,3:16:68.80:69,0,472
1 29439016 rs4654390 T A 343.32 PASS AB=0.35;AC=1;AF=0.50;AN=2;BaseQRankSum=1.426;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.4148;MQ=58.84;MQ0=0;MQRankSum=-1.109;QD=17.17;ReadPosRankSum=-0.238;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPB41;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462032 GT:AD:DP:GQ:PL 0/1:7,13:20:99:373,0,225
1 29475341 rs2230678 C T 972.76 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.41;SNPEFF_AMINO_ACID_CHANGE=G356S;SNPEFF_CODON_CHANGE=Ggc/Agc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_29474255_29475738;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SRSF4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000373795 GT:AD:DP:GQ:PL 1/1:0,26:26:75.25:1006,75,0
1 29475394 rs2230677 C G 798.72 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.14;MQ0=0;QD=29.58;SNPEFF_AMINO_ACID_CHANGE=G338A;SNPEFF_CODON_CHANGE=gGg/gCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_29474255_29475738;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SRSF4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000373795 GT:AD:DP:GQ:PL 1/1:0,27:27:75.13:832,75,0
1 29475648 rs2230679 T G 3376.88 PASS AC=2;AF=1.00;AN=2;DB;DP=107;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.8824;MQ=59.57;MQ0=0;QD=31.56;SNPEFF_AMINO_ACID_CHANGE=K152Q;SNPEFF_CODON_CHANGE=Aaa/Caa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_29474657_29475738;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SRSF4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000546138 GT:AD:DP:GQ:PL 1/1:1,106:107:99:3377,259,0
1 29508350 rs571016 C T 175.83 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=2.637;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.87;MQ0=0;MQRankSum=-0.717;QD=15.98;ReadPosRankSum=-0.143;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SRSF4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466448 GT:AD:DP:GQ:PL 0/1:5,6:11:99:206,0,140
1 29529699 rs1062924 T C 166.93 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.82;SNPEFF_AMINO_ACID_CHANGE=A111;SNPEFF_CODON_CHANGE=gcA/gcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_29529643_29529745;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MECR;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000373792 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:200,15,0
1 29533080 rs2503017 A G 74.80 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.72;QD=12.47;ReadPosRankSum=-1.38;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MECR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474946 GT:AD:DP:GQ:PL 0/1:2,4:6:64.96:105,0,65
1 29542435 rs2640469 C G 1355.49 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.06;MQ0=0;QD=33.89;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MECR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464915 GT:AD:DP:GQ:PL 1/1:0,40:40:99:1388,105,0
1 29542637 rs1128400 A G 2607.36 PASS AC=2;AF=1.00;AN=2;DB;DP=76;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;QD=34.31;SNPEFF_AMINO_ACID_CHANGE=F20L;SNPEFF_CODON_CHANGE=Ttc/Ctc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_29542517_29542648;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MECR;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000373791 GT:AD:DP:GQ:PL 1/1:0,76:76:99:2640,193,0
1 29542926 rs3003636 A T 702.40 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=39.02;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MECR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484012 GT:AD:DP:GQ:PL 1/1:0,18:18:54.18:735,54,0
1 29557224 rs2640466 C T 101.24 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=29.0;MQ0=0;QD=25.31;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MECR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263702 GT:AD:DP:GQ:PL 1/1:0,4:4:12.03:134,12,0
1 29563059 rs75011501 C T 51.75 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.87;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_1_29563047_29563229;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPRU;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000323874 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:83,6,0
1 29580348 rs997550 C T 528.48 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.23;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPRU;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000323874 GT:AD:DP:GQ:PL 1/1:0,15:15:42.14:561,42,0
1 30117517 rs692787 A G 77.06 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=19.26;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AC092265.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408199 GT:AD:DP:GQ:PL 1/1:0,4:4:9.02:109,9,0
1 30357704 rs61763487 G A 68.26 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.55;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.55;QD=9.75;ReadPosRankSum=-0.55;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AL645944.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000410855 GT:AD:DP:GQ:PL 0/1:4,3:7:98.26:98,0,145
1 31188089 rs1065755 C T 1060.48 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.245;DB;DP=70;Dels=0.0;FS=0.924;HRun=1;HaplotypeScore=2.5205;MQ=59.67;MQ0=0;MQRankSum=-0.658;QD=15.15;ReadPosRankSum=0.031;SNPEFF_AMINO_ACID_CHANGE=E425;SNPEFF_CODON_CHANGE=gaG/gaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_31188004_31188156;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MATN1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000373765 GT:AD:DP:GQ:PL 0/1:35,35:70:99:1090,0,928
1 31188316 rs34804437 A C 111.35 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.731;QD=22.27;ReadPosRankSum=0.731;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MATN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477320 GT:AD:DP:GQ:PL 0/1:1,4:5:26.18:141,0,26
1 31188901 rs20566 A G 1018.44 PASS AB=0.543;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.167;DB;DP=81;Dels=0.0;FS=0.861;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.063;QD=12.57;ReadPosRankSum=-0.227;SNPEFF_AMINO_ACID_CHANGE=T354;SNPEFF_CODON_CHANGE=acT/acC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_31188756_31189172;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MATN1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000373765 GT:AD:DP:GQ:PL 0/1:44,37:81:99:1048,0,1434
1 31191466 rs1188393 G C 69.03 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=55.21;MQ0=0;MQRankSum=0.727;QD=13.81;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MATN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373765 GT:AD:DP:GQ:PL 0/1:2,3:5:25.76:99,0,26
1 31191516 rs10914186 G C 103.14 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.922;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.421;QD=12.89;ReadPosRankSum=-0.922;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MATN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373765 GT:AD:DP:GQ:PL 0/1:4,4:8:99:133,0,137
1 31192304 rs1149040 G T 94.33 PASS AB=0.765;AC=1;AF=0.50;AN=2;BaseQRankSum=0.849;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.057;QD=5.55;ReadPosRankSum=0.057;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MATN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373765 GT:AD:DP:GQ:PL 0/1:13,4:17:99:124,0,344
1 31206637 rs3795438 C T 95.49 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.3;DB;DP=7;Dels=0.0;FS=3.68;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.3;QD=13.64;ReadPosRankSum=0.55;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAPTM5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464569 GT:AD:DP:GQ:PL 0/1:3,4:7:99:125,0,104
1 31206806 rs3795437 T C 222.04 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=0.48;DB;DP=10;Dels=0.0;FS=4.771;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.898;QD=22.2;ReadPosRankSum=0.48;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAPTM5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294507 GT:AD:DP:GQ:PL 0/1:2,8:10:34.84:252,0,35
1 31208042 rs35351292 C T 2214.62 PASS AB=0.506;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.388;DB;DP=174;Dels=0.0;FS=0.559;HRun=3;HaplotypeScore=0.8321;MQ=59.5;MQ0=0;MQRankSum=0.095;QD=12.65;ReadPosRankSum=0.17;SNPEFF_AMINO_ACID_CHANGE=R226K;SNPEFF_CODON_CHANGE=aGa/aAa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_31208020_31208112;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAPTM5;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000294507 GT:AD:DP:GQ:PL 0/1:88,86:174:99:2245,0,2658
1 31413925 . AATAAG A 1026.99 PASS AB=0.701;AC=1;AF=0.50;AN=2;BaseQRankSum=4.332;DP=47;FS=0.0;HRun=0;HaplotypeScore=257.6436;IndelType=D;MQ=57.3;MQ0=0;MQRankSum=-0.698;QD=21.85;ReadPosRankSum=0.587;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PUM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000527498 GT:AD:DP:GQ:PL 0/1:27,20:47:99:1066,0,2151
1 31422799 rs2275740 C T 78.26 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=55.16;MQ0=0;MQRankSum=0.727;QD=19.57;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PUM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000257075 GT:AD:DP:GQ:PL 0/1:1,3:4:18.55:108,0,19
1 31440921 rs4317854 G A 130.78 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.8;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PUM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000543952 GT:AD:DP:GQ:PL 1/1:0,6:6:12.04:163,12,0
1 31478638 rs144492568 AAGAGAG A 1349.88 PASS AB=0.595;AC=1;AF=0.50;AN=2;BaseQRankSum=1.617;DB;DP=44;FS=0.0;HRun=0;HaplotypeScore=367.8386;IndelType=D;MQ=40.81;MQ0=0;MQRankSum=-1.386;QD=30.68;ReadPosRankSum=0.116;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PUM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000257075 GT:AD:DP:GQ:PL 0/1:14,18:44:7.91:1389,0,8
1 31654305 rs4949357 C G 92.73 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.55;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NKAIN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000530145 GT:AD:DP:GQ:PL 1/1:0,5:5:9.03:125,9,0
1 31654940 rs2297959 C T 45.53 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.77;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NKAIN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000530145 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:77,6,0
1 31740668 rs3753374 C T 995.52 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.55;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SNRNP40;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474025 GT:AD:DP:GQ:PL 1/1:0,28:28:75.25:1029,75,0
1 31741816 rs3737756 A G 89.19 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.3;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SNRNP40;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474025 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:121,9,0
1 31744168 rs3737755 G A 1271.63 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.53;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SNRNP40;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263694 GT:AD:DP:GQ:PL 1/1:0,33:33:96.30:1305,96,0
1 31761936 rs7521463 T A 134.85 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.71;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SNRNP40;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463988 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:167,12,0
1 31761989 rs1532859 G A 401.11 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.46;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SNRNP40;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463988 GT:AD:DP:GQ:PL 1/1:0,11:11:33.11:434,33,0
1 31762374 rs1532858 C T 677.02 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.61;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SNRNP40;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463988 GT:AD:DP:GQ:PL 1/1:0,18:18:54.16:710,54,0
1 31764693 rs12135540 G A 955.28 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.13;MQ0=0;QD=38.21;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SNRNP40;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463988 GT:AD:DP:GQ:PL 1/1:0,25:25:75.24:988,75,0
1 31764713 . C CAAG 2006.04 PASS AC=2;AF=1.00;AN=2;DP=33;FS=0.0;HRun=0;HaplotypeScore=178.1959;IndelType=I;MQ=55.26;MQ0=0;QD=60.79;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SNRNP40;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463988 GT:AD:DP:GQ:PL 1/1:5,27:33:93.32:2048,93,0
1 31764930 rs10733007 T C 567.22 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.45;MQ0=0;QD=37.81;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SNRNP40;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463988 GT:AD:DP:GQ:PL 1/1:0,15:15:45.15:600,45,0
1 31765968 rs1546375 C T 484.70 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.66;MQ0=0;QD=34.62;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SNRNP40;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263694 GT:AD:DP:GQ:PL 1/1:0,14:14:39.13:518,39,0
1 31766491 rs1532861 T C 41.69 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.84;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SNRNP40;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263694 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:73,6,0
1 31792141 rs4949384 A G 404.40 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.11;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZCCHC17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344147 GT:AD:DP:GQ:PL 1/1:0,13:13:33.10:437,33,0
1 31840426 rs2271072 C G 842.55 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.7;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZCCHC17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344147 GT:AD:DP:GQ:PL 1/1:0,25:25:72.13:876,72,0
1 31883475 rs4949208 G A 683.12 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.71;MQ0=0;QD=37.95;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SERINC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373710 GT:AD:DP:GQ:PL 1/1:0,18:18:54.16:716,54,0
1 31898132 rs4949400 T C 1018.63 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.644;DB;DP=35;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.9999;MQ=60.0;MQ0=0;MQRankSum=-1.139;QD=29.1;ReadPosRankSum=-1.139;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SERINC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373709 GT:AD:DP:GQ:PL 1/1:1,34:35:45.51:1052,46,0
1 31898162 rs4949401 C T 1115.32 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.644;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.34;MQ0=0;MQRankSum=1.238;QD=31.87;ReadPosRankSum=0.05;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SERINC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373709 GT:AD:DP:GQ:PL 1/1:1,34:35:51.07:1148,51,0
1 31898234 rs4949402 T C 903.21 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.45;MQ0=0;QD=30.11;SNPEFF_AMINO_ACID_CHANGE=I150;SNPEFF_CODON_CHANGE=atT/atC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_31898177_31898256;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SERINC2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000373709 GT:AD:DP:GQ:PL 1/1:0,30:30:75.23:936,75,0
1 31898279 rs4949403 A C 828.40 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.321;DB;DP=27;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9159;MQ=59.14;MQ0=0;MQRankSum=-1.733;QD=30.68;ReadPosRankSum=0.193;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SERINC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373709 GT:AD:DP:GQ:PL 1/1:1,26:27:35.91:861,36,0
1 31898463 rs2275436 C T 1894.23 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;QD=35.08;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SERINC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373709 GT:AD:DP:GQ:PL 1/1:0,53:54:99:1927,147,0
1 31898536 rs2275435 C T 4859.21 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.664;DB;DP=154;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.1844;MQ=59.79;MQ0=0;MQRankSum=0.433;QD=31.55;ReadPosRankSum=-0.593;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SERINC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373709 GT:AD:DP:GQ:PL 1/1:1,153:154:99:4859,367,0
1 31898639 rs35976845 C T 1772.41 PASS AB=0.56;AC=1;AF=0.50;AN=2;BaseQRankSum=5.094;DB;DP=150;Dels=0.0;FS=0.742;HRun=0;HaplotypeScore=2.9032;MQ=59.48;MQ0=0;MQRankSum=0.48;QD=11.74;ReadPosRankSum=-0.225;SNPEFF_AMINO_ACID_CHANGE=G163;SNPEFF_CODON_CHANGE=ggC/ggT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_31898623_31898760;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SERINC2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000373709 GT:AD:DP:GQ:PL 0/1:84,66:150:99:1802,0,2129
1 31899684 rs10454445 A T 2386.48 PASS AC=2;AF=1.00;AN=2;DB;DP=83;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.16;MQ0=0;QD=28.75;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SERINC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000487207 GT:AD:DP:GQ:PL 1/1:0,83:83:99:2419,198,0
1 31899704 rs10454446 C T 2255.47 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9998;MQ=58.59;MQ0=0;QD=34.17;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SERINC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000487207 GT:AD:DP:GQ:PL 1/1:0,65:66:99:2288,175,0
1 31905730 rs7547845 T C 47.88 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=15.96;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SERINC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373709 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:79,6,0
1 31905889 rs3050461 A ACAG 1654.54 PASS AC=2;AF=1.00;AN=2;DB;DP=34;FS=0.0;HRun=0;HaplotypeScore=107.542;IndelType=I;MQ=57.44;MQ0=0;QD=47.27;SNPEFF_AMINO_ACID_CHANGE=-364Q;SNPEFF_CODON_CHANGE=-/CAG;SNPEFF_EFFECT=CODON_INSERTION;SNPEFF_EXON_ID=exon_1_31905814_31906032;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SERINC2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000373709 GT:AD:DP:GQ:PL 1/1:6,28:34:84.29:1697,84,0
1 31906882 rs11587589 A G 2123.21 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.3;MQ0=0;QD=32.17;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SERINC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373709 GT:AD:DP:GQ:PL 1/1:0,66:66:99:2156,175,0
1 31907089 rs141375854 T C 588.74 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.796;DB;DP=51;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9993;MQ=59.55;MQ0=0;MQRankSum=0.146;QD=11.54;ReadPosRankSum=0.32;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SERINC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491976 GT:AD:DP:GQ:PL 0/1:24,27:51:99:619,0,676
1 31907102 rs7417775 A G 1354.64 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.36;MQ0=0;QD=37.63;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SERINC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491976 GT:AD:DP:GQ:PL 1/1:0,36:36:99:1388,105,0
1 32044641 rs12753402 G A 77.51 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=50.45;MQ0=0;MQRankSum=0.727;QD=19.38;ReadPosRankSum=0.727;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TINAGL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466998 GT:AD:DP:GQ:PL 1/1:1,3:4:9.03:110,9,0
1 32084904 rs1056526 C T 1991.67 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.61;SNPEFF_AMINO_ACID_CHANGE=R37;SNPEFF_CODON_CHANGE=cgC/cgT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_32084794_32084992;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HCRTR1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000373705 GT:AD:DP:GQ:PL 1/1:0,63:63:99:2025,150,0
1 32086912 rs2280386 A C 382.86 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HCRTR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373705 GT:AD:DP:GQ:PL 1/1:0,12:12:33.10:416,33,0
1 32092525 rs2271933 A G 3744.49 PASS AC=2;AF=1.00;AN=2;DB;DP=117;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.37;MQ0=0;QD=32.0;SNPEFF_AMINO_ACID_CHANGE=I408V;SNPEFF_CODON_CHANGE=Atc/Gtc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_32092391_32092792;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HCRTR1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000373706 GT:AD:DP:GQ:PL 1/1:0,117:117:99:3744,283,0
1 32092735 rs2176807 T G 95.38 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.79;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HCRTR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485464 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:127,9,0
1 32096265 rs1061770 A G 1005.18 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.66;SNPEFF_AMINO_ACID_CHANGE=I268;SNPEFF_CODON_CHANGE=atT/atC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_32095463_32096443;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PEF1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000373703 GT:AD:DP:GQ:PL 1/1:0,29:29:81.26:1038,81,0
1 32118160 rs1061392 C A 543.26 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.05;FS=0.0;HRun=8;HaplotypeScore=1.9663;MQ=57.77;MQ0=0;QD=25.87;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL16A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000440437 GT:AD:DP:GQ:PL 1/1:0,20:20:51.14:576,51,0
1 32119347 rs67961612 AACAC A 592.44 PASS AC=2;AF=1.00;AN=2;DB;DP=18;FS=0.0;HRun=0;HaplotypeScore=113.1787;IndelType=D;MQ=59.25;MQ0=0;QD=32.91;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL16A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000440437 GT:AD:DP:GQ:PL 1/1:4,14:18:42.14:634,42,0
1 32119431 rs3817398 T C 783.06 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.1567;MQ=58.45;MQ0=0;QD=34.05;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL16A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000440437 GT:AD:DP:GQ:PL 1/1:0,23:23:63.19:816,63,0
1 32122164 rs7545321 A G 217.58 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.26;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL16A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466829 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:250,18,0
1 32122444 . T A 51.69 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.2;DP=14;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=3.7326;MQ=51.61;MQ0=0;MQRankSum=-0.555;QD=3.69;ReadPosRankSum=2.074;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL16A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466829 GT:AD:DP:GQ:PL 0/1:6,8:14:81.68:82,0,114
1 32131163 rs1356803 C G 1167.11 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.42;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL16A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468459 GT:AD:DP:GQ:PL 1/1:0,36:36:90.29:1200,90,0
1 32134491 rs2271929 C G 651.64 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.62;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL16A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000458715 GT:AD:DP:GQ:PL 1/1:0,22:22:54.17:685,54,0
1 32140733 rs2292993 C T 437.64 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=57.05;MQ0=0;QD=27.35;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL16A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373668 GT:AD:DP:GQ:PL 1/1:0,16:16:39.11:471,39,0
1 32145009 rs4949461 C T 781.89 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.54;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL16A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474000 GT:AD:DP:GQ:PL 1/1:0,22:22:60.20:815,60,0
1 32146425 rs11590964 C T 609.87 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.08;DB;DP=36;Dels=0.0;FS=6.913;HRun=0;HaplotypeScore=0.0;MQ=58.71;MQ0=0;MQRankSum=-1.289;QD=16.94;ReadPosRankSum=0.398;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL16A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474000 GT:AD:DP:GQ:PL 0/1:16,20:36:99:640,0,467
1 32146764 rs2297684 C T 107.73 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.017;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.421;QD=13.47;ReadPosRankSum=0.922;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL16A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474000 GT:AD:DP:GQ:PL 0/1:4,4:8:99:138,0,101
1 32148571 rs10737358 A G 1406.38 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.19;MQ0=0;QD=28.7;SNPEFF_AMINO_ACID_CHANGE=P55;SNPEFF_CODON_CHANGE=ccT/ccC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_32148535_32148603;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL16A1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000458715 GT:AD:DP:GQ:PL 1/1:0,48:49:99:1439,111,0
1 32155284 rs2297682 T C 756.74 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=58.99;MQ0=0;QD=32.9;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL16A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271069 GT:AD:DP:GQ:PL 1/1:0,23:23:63.20:790,63,0
1 32155911 rs6425780 G T 361.32 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.79;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL16A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271069 GT:AD:DP:GQ:PL 1/1:0,13:13:30.08:394,30,0
1 32155929 rs2297681 G A 588.47 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.66;MQ0=0;QD=29.42;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL16A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271069 GT:AD:DP:GQ:PL 1/1:0,20:20:48.14:621,48,0
1 32156722 rs10914467 G A 1910.84 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.59;MQ0=0;QD=34.12;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL16A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271069 GT:AD:DP:GQ:PL 1/1:0,56:56:99:1944,144,0
1 32156869 rs10798884 A T 1195.05 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.15;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL16A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271069 GT:AD:DP:GQ:PL 1/1:0,33:34:90.30:1228,90,0
1 32157531 rs2297676 T C 984.07 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=59.2;MQ0=0;QD=33.93;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL16A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271069 GT:AD:DP:GQ:PL 1/1:0,29:29:75.24:1017,75,0
1 32158374 rs3818788 T C 605.96 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.77;MQ0=0;QD=31.89;SNPEFF_AMINO_ACID_CHANGE=P369;SNPEFF_CODON_CHANGE=ccA/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_32158368_32158409;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL16A1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000271069 GT:AD:DP:GQ:PL 1/1:0,19:19:51.15:639,51,0
1 32160918 rs6656079 A G 176.95 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.39;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL16A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000532877 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:210,15,0
1 32163950 rs2297674 G C 306.92 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.37;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.33;MQ0=0;MQRankSum=0.859;QD=10.96;ReadPosRankSum=-1.509;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL16A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000532877 GT:AD:DP:GQ:PL 0/1:16,12:28:99:337,0,520
1 32163975 rs76790410 C A 253.75 PASS AB=0.577;AC=1;AF=0.50;AN=2;BaseQRankSum=1.09;DB;DP=26;Dels=0.0;FS=1.81;HRun=1;HaplotypeScore=0.0;MQ=58.38;MQ0=0;MQRankSum=-0.986;QD=9.76;ReadPosRankSum=-0.052;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL16A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000532877 GT:AD:DP:GQ:PL 0/1:15,11:26:99:284,0,390
1 32164206 rs2228550 T G 138.56 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.985;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9916;MQ=58.89;MQ0=0;MQRankSum=0.428;QD=6.6;ReadPosRankSum=-0.895;SNPEFF_AMINO_ACID_CHANGE=R90;SNPEFF_CODON_CHANGE=Aga/Cga;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_32164084_32164207;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL16A1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000271069 GT:AD:DP:GQ:PL 0/1:15,6:21:99:169,0,526
1 32165495 rs2228552 G T 412.27 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=2.855;DB;DP=27;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.391;QD=15.27;ReadPosRankSum=0.171;SNPEFF_AMINO_ACID_CHANGE=T62K;SNPEFF_CODON_CHANGE=aCg/aAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_32165414_32165531;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL16A1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000271069 GT:AD:DP:GQ:PL 0/1:12,15:27:99:442,0,328
1 32266026 rs552124 A G 58.43 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.16;MQ0=0;QD=14.61;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPOCD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000525930 GT:AD:DP:GQ:PL 1/1:0,4:4:9:90,9,0
1 32279629 rs6669563 G A 607.26 PASS AB=0.576;AC=1;AF=0.50;AN=2;BaseQRankSum=0.759;DB;DP=59;Dels=0.0;FS=4.136;HRun=0;HaplotypeScore=0.9734;MQ=60.0;MQ0=0;MQRankSum=-0.176;QD=10.29;ReadPosRankSum=0.13;SNPEFF_AMINO_ACID_CHANGE=R436W;SNPEFF_CODON_CHANGE=Cgg/Tgg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_32279552_32280973;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPOCD1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000360482 GT:AD:DP:GQ:PL 0/1:34,25:59:99:637,0,1156
1 32280610 rs6664445 T C 1095.33 PASS AB=0.446;AC=1;AF=0.50;AN=2;BaseQRankSum=0.6;DB;DP=67;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.8488;MQ=60.0;MQ0=0;MQRankSum=0.31;QD=16.35;ReadPosRankSum=-0.825;SNPEFF_AMINO_ACID_CHANGE=T109A;SNPEFF_CODON_CHANGE=Act/Gct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_32279552_32280973;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPOCD1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000360482 GT:AD:DP:GQ:PL 0/1:29,36:67:99:1125,0,864
1 32377076 rs111837618 C T 41.49 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.026;QD=10.37;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTP4A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468531 GT:AD:DP:GQ:PL 0/1:2,2:4:66.54:71,0,67
1 32557219 rs114695697 A G 127.36 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.47;DB;DP=10;Dels=0.0;FS=2.808;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.453;QD=12.74;ReadPosRankSum=-0.336;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TMEM39B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336294 GT:AD:DP:GQ:PL 0/1:5,5:10:99:157,0,175
1 32631613 . A AAAC 333.28 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.977;DP=14;FS=0.0;HRun=0;HaplotypeScore=42.3602;IndelType=I;MQ=62.28;MQ0=0;MQRankSum=0.529;QD=23.81;ReadPosRankSum=0.38;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KPNA6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469790 GT:AD:DP:GQ:PL 0/1:7,7:14:99:372,0,165
1 32658062 rs79952364 G GGT 531.70 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.817;DB;DP=24;FS=6.107;HRun=0;HaplotypeScore=83.9508;IndelType=I;MQ=59.49;MQ0=0;MQRankSum=0.296;QD=22.15;ReadPosRankSum=-0.465;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TXLNA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373609 GT:AD:DP:GQ:PL 0/1:12,12:24:99:571,0,234
1 32672932 rs12032332 G A 460.05 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.93;DB;DP=34;Dels=0.0;FS=1.901;HRun=0;HaplotypeScore=2.9566;MQ=59.32;MQ0=0;MQRankSum=0.551;QD=13.53;ReadPosRankSum=1.24;SNPEFF_AMINO_ACID_CHANGE=C217Y;SNPEFF_CODON_CHANGE=tGt/tAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_32672841_32674288;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IQCC;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000291358 GT:AD:DP:GQ:PL 0/1:17,17:34:99:490,0,542
1 32689857 rs589034 A G 176.54 PASS AB=0.143;AC=1;AF=0.50;AN=2;BaseQRankSum=0.742;DB;DP=7;Dels=0.0;FS=5.441;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.742;QD=25.22;ReadPosRankSum=0.742;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EIF3I;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355082 GT:AD:DP:GQ:PL 0/1:1,6:7:20.70:207,0,21
1 32741690 . G A 565.65 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.24;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.67;MQ0=0;MQRankSum=-0.461;QD=16.16;ReadPosRankSum=-0.567;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LCK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355928 GT:AD:DP:GQ:PL 0/1:14,21:35:99:596,0,381
1 32750992 rs11576040 G A 286.72 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.433;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=0.433;QD=16.87;ReadPosRankSum=0.337;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LCK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000333070 GT:AD:DP:GQ:PL 0/1:8,9:17:99:317,0,278
1 32860161 rs547329 T C 360.37 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=57.87;MQ0=0;QD=32.76;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BSDC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474414 GT:AD:DP:GQ:PL 1/1:0,11:11:30.10:393,30,0
1 33065830 rs142604487 T C 186.74 PASS AB=0.619;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.833;DB;DP=21;Dels=0.0;FS=1.922;HRun=0;HaplotypeScore=0.8667;MQ=57.77;MQ0=0;MQRankSum=0.905;QD=8.89;ReadPosRankSum=-1.774;SNPEFF_AMINO_ACID_CHANGE=I379T;SNPEFF_CODON_CHANGE=aTt/aCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_33065688_33066385;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZBTB8A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000373510 GT:AD:DP:GQ:PL 0/1:13,8:21:99:217,0,465
1 33065947 rs704886 G C 1080.65 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.59;MQ0=0;QD=32.75;SNPEFF_AMINO_ACID_CHANGE=H46Q;SNPEFF_CODON_CHANGE=caC/caG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_33065773_33065951;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZBTB8OS;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000341885 GT:AD:DP:GQ:PL 1/1:0,33:33:84.26:1114,84,0
1 33133968 rs2762904 T C 1583.87 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.94;MQ0=0;QD=31.06;SNPEFF_AMINO_ACID_CHANGE=V116;SNPEFF_CODON_CHANGE=gtT/gtC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_33133826_33133999;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RBBP4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000458695 GT:AD:DP:GQ:PL 1/1:0,51:51:99:1617,123,0
1 33134774 rs359955 A C 2206.15 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.64;MQ0=0;QD=34.47;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RBBP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401893 GT:AD:DP:GQ:PL 1/1:0,64:64:99:2239,175,0
1 33134989 rs359956 A G 2491.78 PASS AC=2;AF=1.00;AN=2;DB;DP=77;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.1;MQ0=0;QD=32.36;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RBBP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401893 GT:AD:DP:GQ:PL 1/1:1,76:77:99:2525,190,0
1 33137928 rs2762905 A G 85.72 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.43;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RBBP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401893 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:118,9,0
1 33138516 rs607202 A C 936.93 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.2;MQ0=0;QD=32.31;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RBBP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401893 GT:AD:DP:GQ:PL 1/1:0,29:29:72.23:970,72,0
1 33138605 rs1320511 T C 279.61 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.07;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RBBP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401893 GT:AD:DP:GQ:PL 1/1:0,9:9:24.08:313,24,0
1 33160150 rs360043 A G 122.38 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.6;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SYNC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000417633 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:155,12,0
1 33160878 rs360042 C T 1110.63 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=59.16;MQ0=0;QD=33.66;SNPEFF_AMINO_ACID_CHANGE=R274Q;SNPEFF_CODON_CHANGE=cGg/cAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_33160466_33161645;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SYNC;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000373484 GT:AD:DP:GQ:PL 1/1:0,32:33:84.28:1144,84,0
1 33161212 rs360041 T C 912.87 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.39;MQ0=0;QD=31.48;SNPEFF_AMINO_ACID_CHANGE=M163V;SNPEFF_CODON_CHANGE=Atg/Gtg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_33160466_33161645;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SYNC;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000373484 GT:AD:DP:GQ:PL 1/1:0,29:29:78.20:946,78,0
1 33233223 rs4951771 C T 451.85 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.65;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA1522;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294521 GT:AD:DP:GQ:PL 1/1:0,12:12:36.11:485,36,0
1 33233237 rs360524 G A 437.06 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.42;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA1522;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294521 GT:AD:DP:GQ:PL 1/1:0,12:12:36.12:470,36,0
1 33233323 rs360523 A G 1443.69 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.45;MQ0=0;QD=34.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA1522;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294521 GT:AD:DP:GQ:PL 1/1:0,42:42:99:1477,111,0
1 33234136 rs360522 T C 266.14 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.57;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA1522;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294521 GT:AD:DP:GQ:PL 1/1:0,9:9:24.07:299,24,0
1 33234153 rs3737993 G A 295.54 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.94;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA1522;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294521 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:329,24,0
1 33235626 rs3737995 G A 347.09 PASS AB=0.389;AC=1;AF=0.50;AN=2;BaseQRankSum=0.854;DB;DP=18;Dels=0.0;FS=5.528;HRun=0;HaplotypeScore=0.0;MQ=57.39;MQ0=0;MQRankSum=0.754;QD=19.28;ReadPosRankSum=-0.352;SNPEFF_AMINO_ACID_CHANGE=A223;SNPEFF_CODON_CHANGE=gcG/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_33235481_33238042;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA1522;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000373480 GT:AD:DP:GQ:PL 0/1:7,11:18:99:377,0,166
1 33252436 rs41265863 G T 396.80 PASS AB=0.48;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.203;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.952;QD=15.87;ReadPosRankSum=1.061;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=YARS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466052 GT:AD:DP:GQ:PL 0/1:12,13:25:99:427,0,411
1 33276424 rs4951787 G A 2175.70 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;QD=38.17;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=YARS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373477 GT:AD:DP:GQ:PL 1/1:0,57:57:99:2209,169,0
1 33293748 rs10753266 T C 711.71 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.89;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=S100PBP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000482212 GT:AD:DP:GQ:PL 1/1:0,21:21:57.19:745,57,0
1 33318561 rs702836 T C 342.21 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.22;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=S100PBP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373475 GT:AD:DP:GQ:PL 1/1:0,10:10:27.09:375,27,0
1 33318634 rs785274 G A 1346.33 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.39;MQ0=0;QD=37.4;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=S100PBP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373475 GT:AD:DP:GQ:PL 1/1:0,36:36:99:1379,102,0
1 33318868 rs61236897 C CATTTGAG 1132.89 PASS AC=2;AF=1.00;AN=2;DB;DP=14;FS=0.0;HRun=0;HaplotypeScore=193.4414;IndelType=I;MQ=40.33;MQ0=0;QD=80.92;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=S100PBP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373475 GT:AD:DP:GQ:PL 1/1:2,4:14:42.14:1175,42,0
1 33318869 rs12750345 G C 67.19 PASS AB=0.727;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.262;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=40.33;MQ0=0;MQRankSum=1.708;QD=4.8;ReadPosRankSum=-2.262;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=S100PBP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373475 GT:AD:DP:GQ:PL 0/1:8,3:14:27.28:97,0,27
1 33321796 rs12126851 G A 187.66 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.938;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.468;QD=13.4;ReadPosRankSum=0.193;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=S100PBP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475486 GT:AD:DP:GQ:PL 0/1:6,8:14:99:218,0,209
1 33330432 rs1284368 A G 363.02 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FNDC5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373470 GT:AD:DP:GQ:PL 1/1:0,11:11:30.10:396,30,0
1 33364095 rs942242 C T 45.53 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.77;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HPCA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373467 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:77,6,0
1 33411956 . C T 282.61 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=1.418;DP=22;Dels=0.0;FS=3.424;HRun=0;HaplotypeScore=0.9665;MQ=60.0;MQ0=0;MQRankSum=0.297;QD=12.85;ReadPosRankSum=-1.22;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RNF19B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000235150 GT:AD:DP:GQ:PL 0/1:12,10:22:99:313,0,419
1 33446052 rs144124490 G C 134.35 PASS AB=0.724;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.781;DB;DP=29;Dels=0.0;FS=1.735;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.952;QD=4.63;ReadPosRankSum=0.415;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP4-803A2.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000395888 GT:AD:DP:GQ:PL 0/1:21,8:29:99:164,0,638
1 33476353 rs66599471 C T 31.95 QDFilter2 AB=0.786;AC=1;AF=0.50;AN=2;BaseQRankSum=1.484;DB;DP=28;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9332;MQ=54.39;MQ0=0;MQRankSum=-3.723;QD=1.14;ReadPosRankSum=1.596;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354858 GT:AD:DP:GQ:PL 0/1:22,6:28:61.94:62,0,802
1 33560338 rs804428 A G 857.48 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.11;MQ0=0;QD=32.98;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ADC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462920 GT:AD:DP:GQ:PL 1/1:0,26:26:66.21:890,66,0
1 33631069 rs2306257 C A 37.19 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.026;QD=9.3;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRIM62;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000291416 GT:AD:DP:GQ:PL 0/1:2,2:4:67.18:67,0,72
1 33646950 rs622407 A G 123.04 PASS AB=0.385;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.381;DB;DP=13;Dels=0.0;FS=2.533;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.545;QD=9.46;ReadPosRankSum=-0.817;SNPEFF_AMINO_ACID_CHANGE=H28;SNPEFF_CODON_CHANGE=caT/caC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_33646626_33647267;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRIM62;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000291416 GT:AD:DP:GQ:PL 0/1:5,8:13:99:153,0,171
1 33742228 rs4475712 T C 39.24 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=19.62;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF362;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373428 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:70,6,0
1 33746163 rs10914676 T C 40.14 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.07;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF362;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000483388 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:71,6,0
1 33760743 rs4641276 T C 1385.81 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=58.99;MQ0=0;QD=30.13;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF362;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373428 GT:AD:DP:GQ:PL 1/1:0,46:46:99:1419,108,0
1 33794853 rs7551448 A G 87.94 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.31;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PHC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473158 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:120,9,0
1 33795572 rs10914684 G A 158.23 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.65;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PHC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473158 GT:AD:DP:GQ:PL 1/1:0,5:5:15.04:191,15,0
1 33795590 rs10914685 A T 178.16 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.69;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PHC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473158 GT:AD:DP:GQ:PL 1/1:0,6:6:18.05:211,18,0
1 33796834 rs34504596 GA G 893.32 PASS AC=2;AF=1.00;AN=2;DB;DP=25;FS=0.0;HRun=2;HaplotypeScore=65.9685;IndelType=D;MQ=60.43;MQ0=0;QD=35.73;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PHC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473158 GT:AD:DP:GQ:PL 1/1:0,25:25:72.23:935,72,0
1 33957152 rs4403594 T G 2437.04 PASS AC=2;AF=1.00;AN=2;DB;DP=71;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.32;SNPEFF_AMINO_ACID_CHANGE=Y366D;SNPEFF_CODON_CHANGE=Tat/Gat;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_33956625_33957302;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZSCAN20;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000361328 GT:AD:DP:GQ:PL 1/1:0,71:71:99:2470,190,0
1 34024928 rs16835591 T C 90.09 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.036;DB;DP=10;Dels=0.0;FS=7.202;HRun=0;HaplotypeScore=0.0;MQ=57.66;MQ0=0;MQRankSum=1.133;QD=9.01;ReadPosRankSum=1.133;SNPEFF_AMINO_ACID_CHANGE=Q2842;SNPEFF_CODON_CHANGE=caA/caG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_34024900_34025073;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CSMD2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000373381 GT:AD:DP:GQ:PL 0/1:6,4:10:99:120,0,208
1 34025030 rs16835593 A G 341.46 PASS AB=0.316;AC=1;AF=0.50;AN=2;BaseQRankSum=0.57;DB;DP=19;Dels=0.0;FS=2.017;HRun=1;HaplotypeScore=0.0;MQ=57.77;MQ0=0;MQRankSum=0.132;QD=17.97;ReadPosRankSum=0.57;SNPEFF_AMINO_ACID_CHANGE=T2808;SNPEFF_CODON_CHANGE=acT/acC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_34024900_34025073;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CSMD2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000373381 GT:AD:DP:GQ:PL 0/1:6,13:19:99:371,0,166
1 34037991 rs34459850 GT G 134.31 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.504;DB;DP=18;FS=0.0;HRun=15;HaplotypeScore=94.9552;IndelType=D;MQ=55.31;MQ0=0;MQRankSum=0.81;QD=7.46;ReadPosRankSum=-0.81;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CSMD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373381 GT:AD:DP:GQ:PL 1/1:4,9:18:14.06:176,14,0
1 34038214 rs2641962 T C 588.03 PASS AB=0.474;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.362;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.9;MQ0=0;MQRankSum=-1.051;QD=15.47;ReadPosRankSum=-0.838;SNPEFF_AMINO_ACID_CHANGE=M2552V;SNPEFF_CODON_CHANGE=Atg/Gtg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_34038106_34038291;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CSMD2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000373381 GT:AD:DP:GQ:PL 0/1:18,20:38:99:618,0,560
1 34042810 rs1389560 A G 211.97 PASS AB=0.111;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.751;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.751;QD=23.55;ReadPosRankSum=-0.751;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CSMD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373381 GT:AD:DP:GQ:PL 0/1:1,8:9:14.69:242,0,15
1 34042834 rs16835628 C A 311.27 PASS AB=0.154;AC=1;AF=0.50;AN=2;BaseQRankSum=0.493;DB;DP=13;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.691;QD=23.94;ReadPosRankSum=0.099;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CSMD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373381 GT:AD:DP:GQ:PL 0/1:2,11:13:47.18:341,0,47
1 34043169 rs11291100 TC T 141.68 PASS AC=2;AF=1.00;AN=2;DB;DP=9;FS=0.0;HRun=7;HaplotypeScore=25.0908;IndelType=D;MQ=60.0;MQ0=0;QD=15.74;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CSMD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373381 GT:AD:DP:GQ:PL 1/1:2,7:9:18.04:184,18,0
1 34052272 rs16835645 C T 163.49 PASS AB=0.385;AC=1;AF=0.50;AN=2;BaseQRankSum=1.381;DB;DP=13;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.533;QD=12.58;ReadPosRankSum=-1.256;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CSMD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373381 GT:AD:DP:GQ:PL 0/1:5,8:13:99:193,0,166
1 34052305 rs12727575 C T 333.01 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CSMD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373381 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:366,27,0
1 34052403 rs6425831 A G 45.24 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.62;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CSMD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373381 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:76,6,0
1 34066756 . T C 44.63 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.537;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.988;QD=7.44;ReadPosRankSum=-0.406;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CSMD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373377 GT:AD:DP:GQ:PL 0/1:3,3:6:74.62:75,0,95
1 34070826 rs12733436 G A 147.83 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.307;DB;DP=10;Dels=0.0;FS=3.522;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=14.78;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CSMD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373377 GT:AD:DP:GQ:PL 0/1:5,5:10:99:178,0,104
1 34071434 rs1874044 C T 195.66 PASS AB=0.652;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.807;DB;DP=23;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.742;QD=8.51;ReadPosRankSum=-1.13;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CSMD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373377 GT:AD:DP:GQ:PL 0/1:15,8:23:99:226,0,516
1 34071525 rs1874045 C T 364.74 PASS AB=0.581;AC=1;AF=0.50;AN=2;BaseQRankSum=0.38;DB;DP=31;Dels=0.0;FS=3.256;HRun=3;HaplotypeScore=0.0;MQ=59.25;MQ0=0;MQRankSum=0.861;QD=11.77;ReadPosRankSum=0.941;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CSMD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373377 GT:AD:DP:GQ:PL 0/1:18,13:31:99:395,0,594
1 34158472 rs12757315 C T 533.18 PASS AB=0.607;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.176;DB;DP=56;Dels=0.0;FS=4.815;HRun=1;HaplotypeScore=5.0616;MQ=59.59;MQ0=0;MQRankSum=0.461;QD=9.52;ReadPosRankSum=-0.574;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CSMD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373380 GT:AD:DP:GQ:PL 0/1:34,22:56:99:563,0,1050
1 34158482 rs12757320 C T 701.79 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.789;DB;DP=65;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.8773;MQ=59.65;MQ0=0;MQRankSum=-0.029;QD=10.8;ReadPosRankSum=-0.373;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CSMD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373380 GT:AD:DP:GQ:PL 0/1:39,26:65:99:732,0,1119
1 34164286 rs1887918 A G 343.93 PASS AB=0.586;AC=1;AF=0.50;AN=2;BaseQRankSum=2.015;DB;DP=29;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=-0.111;QD=11.86;ReadPosRankSum=0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CSMD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373380 GT:AD:DP:GQ:PL 0/1:17,12:29:99:374,0,543
1 34166355 rs1550544 C G 667.23 PASS AB=0.512;AC=1;AF=0.50;AN=2;BaseQRankSum=2.229;DB;DP=43;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.46;MQ0=0;MQRankSum=-1.02;QD=15.52;ReadPosRankSum=0.667;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CSMD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373380 GT:AD:DP:GQ:PL 0/1:22,21:43:99:697,0,600
1 34180109 rs141495644 G A 1140.62 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=5.07;DB;DP=110;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9931;MQ=59.37;MQ0=0;MQRankSum=-1.688;QD=10.37;ReadPosRankSum=-0.827;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CSMD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373381 GT:AD:DP:GQ:PL 0/1:70,40:110:99:1171,0,1878
1 34189917 rs519370 C T 688.31 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.23;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CSMD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373381 GT:AD:DP:GQ:PL 1/1:0,19:19:54.18:721,54,0
1 34189957 rs66891440 AG A 498.23 PASS AC=2;AF=1.00;AN=2;DB;DP=15;FS=0.0;HRun=4;HaplotypeScore=77.6297;IndelType=D;MQ=60.0;MQ0=0;QD=33.22;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CSMD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373381 GT:AD:DP:GQ:PL 1/1:0,15:15:45.14:540,45,0
1 34238283 rs474474 T C 485.25 PASS AB=0.623;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.376;DB;DP=53;Dels=0.0;FS=6.923;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.211;QD=8.99;ReadPosRankSum=0.615;SNPEFF_AMINO_ACID_CHANGE=H186R;SNPEFF_CODON_CHANGE=cAc/cGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_34237709_34238352;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CSMD2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000338325 GT:AD:DP:GQ:PL 0/1:33,20:53:99:515,0,1023
1 34270498 rs10737374 G A 86.17 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.72;SNPEFF_AMINO_ACID_CHANGE=A40V;SNPEFF_CODON_CHANGE=gCg/gTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_34270347_34270499;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CSMD2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000338325 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:118,9,0
1 34276210 rs113336841 T TA 404.90 PASS AC=2;AF=1.00;AN=2;DB;DP=15;FS=0.0;HRun=10;HaplotypeScore=45.0897;IndelType=I;MQ=57.61;MQ0=0;QD=26.99;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CSMD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000338325 GT:AD:DP:GQ:PL 1/1:2,13:15:42.11:447,42,0
1 34285342 rs17342512 G A 511.28 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=54.65;MQ0=0;QD=28.4;SNPEFF_AMINO_ACID_CHANGE=A432;SNPEFF_CODON_CHANGE=gcC/gcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_34285314_34285438;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CSMD2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000373381 GT:AD:DP:GQ:PL 1/1:0,18:18:42.14:544,42,0
1 34285381 rs11578857 C T 565.06 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=55.21;MQ0=0;QD=28.25;SNPEFF_AMINO_ACID_CHANGE=K419;SNPEFF_CODON_CHANGE=aaG/aaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_34285314_34285438;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CSMD2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000373381 GT:AD:DP:GQ:PL 1/1:0,20:20:45.15:598,45,0
1 34285716 rs10914784 G A 43.95 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=47.12;MQ0=0;QD=21.98;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CSMD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373381 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:75,6,0
1 34285995 rs3795414 G A 2056.01 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=56.62;MQ0=0;QD=32.64;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CSMD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373381 GT:AD:DP:GQ:PL 1/1:0,63:63:99:2089,169,0
1 34291094 rs10914785 A C 52.22 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.41;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CSMD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373381 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:83,6,0
1 34329897 rs911218 T C 4811.92 PASS AC=2;AF=1.00;AN=2;DB;DP=139;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=59.67;MQ0=0;QD=34.62;SNPEFF_AMINO_ACID_CHANGE=Y35;SNPEFF_CODON_CHANGE=taT/taC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_34328466_34330392;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HMGB4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000519684 GT:AD:DP:GQ:PL 1/1:0,139:139:99:4812,367,0
1 34330067 rs10379 A C 3829.71 PASS AC=2;AF=1.00;AN=2;DB;DP=117;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.41;MQ0=0;QD=32.73;SNPEFF_AMINO_ACID_CHANGE=E92A;SNPEFF_CODON_CHANGE=gAa/gCa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_34328466_34330392;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HMGB4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000519684 GT:AD:DP:GQ:PL 1/1:0,117:117:99:3830,304,0
1 34631101 rs297789 C T 119.23 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.81;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CSMD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000241312 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:152,12,0
1 34684463 rs705207 G A 191.59 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.174;DB;DP=15;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.289;QD=12.77;ReadPosRankSum=0.289;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf94;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373374 GT:AD:DP:GQ:PL 0/1:8,7:15:99:222,0,289
1 35227162 rs9426009 C T 426.63 PASS AB=0.419;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.235;DB;DP=32;Dels=0.0;FS=5.969;HRun=0;HaplotypeScore=0.0;MQ=59.28;MQ0=0;MQRankSum=-1.27;QD=13.33;ReadPosRankSum=-0.894;SNPEFF_AMINO_ACID_CHANGE=R103C;SNPEFF_CODON_CHANGE=Cgc/Tgc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_35226534_35229325;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GJB4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000339480 GT:AD:DP:GQ:PL 0/1:13,18:32:99:457,0,305
1 35227362 rs79193415 C G 334.64 PASS AB=0.278;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.197;DB;DP=18;Dels=0.0;FS=2.112;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.197;QD=18.59;ReadPosRankSum=-1.676;SNPEFF_AMINO_ACID_CHANGE=C169W;SNPEFF_CODON_CHANGE=tgC/tgG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_35226534_35229325;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GJB4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000339480 GT:AD:DP:GQ:PL 0/1:5,13:18:99:365,0,116
1 35251229 rs476220 G A 111.80 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.368;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=0.421;QD=13.97;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GJB3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000543647 GT:AD:DP:GQ:PL 0/1:4,4:8:99:142,0,145
1 35259946 rs1764389 G A 693.84 PASS AB=0.479;AC=1;AF=0.50;AN=2;BaseQRankSum=0.351;DB;DP=48;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=59.13;MQ0=0;MQRankSum=1.321;QD=14.45;ReadPosRankSum=0.248;SNPEFF_AMINO_ACID_CHANGE=V44;SNPEFF_CODON_CHANGE=gtG/gtA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_35259798_35261348;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GJA4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000342280 GT:AD:DP:GQ:PL 0/1:23,25:48:99:724,0,696
1 35259961 rs1764390 A G 841.42 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.111;DB;DP=52;Dels=0.0;FS=3.976;HRun=0;HaplotypeScore=0.0;MQ=59.19;MQ0=0;MQRankSum=1.147;QD=16.18;ReadPosRankSum=-0.138;SNPEFF_AMINO_ACID_CHANGE=Q49;SNPEFF_CODON_CHANGE=caA/caG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_35259798_35261348;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GJA4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000342280 GT:AD:DP:GQ:PL 0/1:24,28:52:99:871,0,727
1 35260769 rs1764391 C T 1051.42 PASS AB=0.424;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.408;DB;DP=67;Dels=0.0;FS=7.169;HRun=0;HaplotypeScore=3.1368;MQ=58.26;MQ0=0;MQRankSum=1.187;QD=15.69;ReadPosRankSum=1.382;SNPEFF_AMINO_ACID_CHANGE=P319S;SNPEFF_CODON_CHANGE=Ccc/Tcc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_35259798_35261348;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GJA4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000342280 GT:AD:DP:GQ:PL 0/1:28,38:67:99:1081,0,714
1 35260929 rs3543 G A 227.09 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.898;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.898;QD=22.71;ReadPosRankSum=-0.48;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GJA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000450137 GT:AD:DP:GQ:PL 0/1:2,8:10:53.39:257,0,53
1 35332926 rs1001616 G C 424.25 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.35;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DLGAP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000235180 GT:AD:DP:GQ:PL 1/1:0,12:12:36.11:457,36,0
1 35350573 rs66657606 CT C 827.45 PASS AB=0.614;AC=1;AF=0.50;AN=2;BaseQRankSum=4.234;DB;DP=43;FS=0.0;HRun=3;HaplotypeScore=108.3629;IndelType=D;MQ=59.97;MQ0=0;MQRankSum=0.515;QD=19.24;ReadPosRankSum=1.822;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DLGAP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000235180 GT:AD:DP:GQ:PL 0/1:16,27:43:99:866,0,562
1 35561510 rs2101973 G A 1732.21 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.55;MQ0=0;QD=33.96;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZMYM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359858 GT:AD:DP:GQ:PL 1/1:0,51:51:99:1765,132,0
1 35562965 rs2971408 G A 3798.75 PASS AC=2;AF=1.00;AN=2;DB;DP=111;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=59.42;MQ0=0;QD=34.22;SNPEFF_AMINO_ACID_CHANGE=V73M;SNPEFF_CODON_CHANGE=Gtg/Atg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_35562918_35563167;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZMYM1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000359858 GT:AD:DP:GQ:PL 1/1:0,111:111:99:3799,277,0
1 35563206 rs6658571 C G 1767.99 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.36;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZMYM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466390 GT:AD:DP:GQ:PL 1/1:0,50:50:99:1801,132,0
1 35576145 rs2935955 C T 625.08 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.77;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZMYM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359858 GT:AD:DP:GQ:PL 1/1:0,17:17:48.16:658,48,0
1 35847103 rs7515563 G C 629.50 PASS AB=0.532;AC=1;AF=0.50;AN=2;BaseQRankSum=0.121;DB;DP=47;Dels=0.0;FS=1.139;HRun=1;HaplotypeScore=0.9947;MQ=60.0;MQ0=0;MQRankSum=0.913;QD=13.39;ReadPosRankSum=-0.627;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZMYM4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000314607 GT:AD:DP:GQ:PL 0/1:25,22:47:99:659,0,807
1 35852521 rs615315 G T 121.33 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.04;MQ0=0;MQRankSum=-0.731;QD=20.22;ReadPosRankSum=0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZMYM4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000314607 GT:AD:DP:GQ:PL 0/1:2,4:6:18.39:151,0,18
1 35859139 rs137920415 AT A 371.61 PASS AB=0.607;AC=1;AF=0.50;AN=2;BaseQRankSum=2.261;DB;DP=17;FS=0.0;HRun=2;HaplotypeScore=47.5383;IndelType=D;MQ=60.0;MQ0=0;MQRankSum=0.452;QD=21.86;ReadPosRankSum=0.251;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZMYM4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000314607 GT:AD:DP:GQ:PL 0/1:6,11:17:99:411,0,237
1 35864011 rs188491753 T C 436.75 PASS AB=0.579;AC=1;AF=0.50;AN=2;BaseQRankSum=0.488;DB;DP=38;Dels=0.0;FS=1.29;HRun=0;HaplotypeScore=0.5784;MQ=58.78;MQ0=0;MQRankSum=-0.665;QD=11.49;ReadPosRankSum=0.37;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZMYM4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470175 GT:AD:DP:GQ:PL 0/1:22,16:38:99:467,0,690
1 35913724 . C T 1152.14 PASS AB=0.439;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.878;DP=66;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7998;MQ=59.3;MQ0=0;MQRankSum=1.115;QD=17.46;ReadPosRankSum=-0.534;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA0319L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000440579 GT:AD:DP:GQ:PL 0/1:29,37:66:99:1182,0,903
1 35925861 rs2819002 C A 1281.59 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.0;FS=0.0;HRun=7;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.8;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA0319L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478463 GT:AD:DP:GQ:PL 1/1:0,43:43:99:1315,99,0
1 35926075 rs72659616 C T 1072.05 PASS AB=0.345;AC=1;AF=0.50;AN=2;BaseQRankSum=4.027;DB;DP=55;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.451;QD=19.49;ReadPosRankSum=0.416;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA0319L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478463 GT:AD:DP:GQ:PL 0/1:19,36:55:99:1102,0,498
1 35926150 rs1768560 T C 531.57 PASS AB=0.308;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.806;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.472;QD=20.44;ReadPosRankSum=-1.194;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA0319L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478463 GT:AD:DP:GQ:PL 0/1:8,18:26:99:562,0,251
1 36101730 rs523743 T C 52.22 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.11;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSMB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373237 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:83,6,0
1 36202585 rs35490896 G A 863.64 PASS AB=0.561;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.04;DB;DP=67;Dels=0.0;FS=2.06;HRun=2;HaplotypeScore=1.9312;MQ=60.0;MQ0=0;MQRankSum=0.126;QD=12.89;ReadPosRankSum=0.192;SNPEFF_AMINO_ACID_CHANGE=S1216L;SNPEFF_CODON_CHANGE=tCa/tTa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_36202515_36202676;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLSPN;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000373220 GT:AD:DP:GQ:PL 0/1:37,29:67:99:894,0,1202
1 36203659 . TTTC T 561.83 PASS AB=0.634;AC=1;AF=0.50;AN=2;BaseQRankSum=1.762;DP=26;FS=2.483;HRun=0;HaplotypeScore=156.3649;IndelType=D;MQ=55.98;MQ0=0;MQRankSum=-0.07;QD=21.61;ReadPosRankSum=0.211;SNPEFF_AMINO_ACID_CHANGE=E1135-;SNPEFF_CODON_CHANGE=gaa/-;SNPEFF_EFFECT=CODON_DELETION;SNPEFF_EXON_ID=exon_1_36203593_36203698;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLSPN;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000373220 GT:AD:DP:GQ:PL 0/1:11,15:26:99:601,0,350
1 36205166 rs577483 A G 733.26 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.1;DB;DP=45;Dels=0.0;FS=1.61;HRun=0;HaplotypeScore=0.8321;MQ=58.97;MQ0=0;MQRankSum=0.058;QD=16.29;ReadPosRankSum=-0.174;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLSPN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000251195 GT:AD:DP:GQ:PL 0/1:18,27:45:99:763,0,497
1 36213712 rs516992 G T 1543.65 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.75;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLSPN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000544356 GT:AD:DP:GQ:PL 1/1:0,42:42:99:1577,117,0
1 36216835 rs535638 C T 570.34 PASS AB=0.578;AC=1;AF=0.50;AN=2;BaseQRankSum=2.287;DB;DP=46;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.5592;MQ=60.0;MQ0=0;MQRankSum=1.183;QD=12.4;ReadPosRankSum=-0.448;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLSPN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000251195 GT:AD:DP:GQ:PL 0/1:26,19:46:99:600,0,777
1 36219636 rs72659666 G A 62.01 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=0.296;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.546;QD=6.2;ReadPosRankSum=1.386;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLSPN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000251195 GT:AD:DP:GQ:PL 0/1:7,3:10:92:92,0,214
1 36225948 rs7537203 T C 437.53 PASS AB=0.516;AC=1;AF=0.50;AN=2;BaseQRankSum=0.353;DB;DP=31;Dels=0.0;FS=4.738;HRun=0;HaplotypeScore=0.0;MQ=58.64;MQ0=0;MQRankSum=0.644;QD=14.11;ReadPosRankSum=-1.06;SNPEFF_AMINO_ACID_CHANGE=N525S;SNPEFF_CODON_CHANGE=aAc/aGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_36225943_36226517;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLSPN;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000251195 GT:AD:DP:GQ:PL 0/1:16,15:31:99:468,0,517
1 36291750 rs72659690 G A 67.03 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.248;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.248;QD=7.45;ReadPosRankSum=-0.573;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EIF2C4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373210 GT:AD:DP:GQ:PL 0/1:6,3:9:97.02:97,0,227
1 36292258 rs72659692 A G 109.82 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.3;DB;DP=7;Dels=0.0;FS=3.68;HRun=0;HaplotypeScore=0.0;MQ=57.28;MQ0=0;MQRankSum=0.937;QD=15.69;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EIF2C4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373210 GT:AD:DP:GQ:PL 0/1:3,4:7:99:140,0,104
1 36316418 rs112794718 C CA 434.23 PASS AC=2;AF=1.00;AN=2;DB;DP=26;FS=0.0;HRun=10;HaplotypeScore=240.8281;IndelType=I;MQ=46.52;MQ0=0;QD=16.7;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EIF2C4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373210 GT:AD:DP:GQ:PL 1/1:10,14:26:47.60:476,48,0
1 36316571 rs4652895 A C 198.27 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.599;DB;DP=18;Dels=0.0;FS=3.214;HRun=1;HaplotypeScore=0.0;MQ=56.04;MQ0=0;MQRankSum=0.489;QD=11.01;ReadPosRankSum=-0.4;SNPEFF_AMINO_ACID_CHANGE=S798;SNPEFF_CODON_CHANGE=tcA/tcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_36316455_36316654;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EIF2C4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000373210 GT:AD:DP:GQ:PL 0/1:10,8:18:99:228,0,340
1 36367780 rs595961 A G 1227.05 PASS AB=0.591;AC=1;AF=0.50;AN=2;BaseQRankSum=2.469;DB;DP=115;Dels=0.0;FS=3.616;HRun=2;HaplotypeScore=2.7565;MQ=59.27;MQ0=0;MQRankSum=-0.136;QD=10.67;ReadPosRankSum=-0.297;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EIF2C1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373204 GT:AD:DP:GQ:PL 0/1:68,47:115:99:1257,0,1989
1 36448130 rs72661641 A G 175.33 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.856;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.95;MQ0=0;MQRankSum=0.785;QD=7.97;ReadPosRankSum=-1.74;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EIF2C3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000246314 GT:AD:DP:GQ:PL 0/1:14,8:22:99:205,0,510
1 36469830 rs72661654 T C 132.96 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.061;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.531;QD=8.86;ReadPosRankSum=0.429;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EIF2C3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000246314 GT:AD:DP:GQ:PL 0/1:10,5:15:99:163,0,366
1 36553673 rs399393 A G 381.20 PASS AB=0.278;AC=1;AF=0.50;AN=2;BaseQRankSum=0.296;DB;DP=18;Dels=0.0;FS=5.035;HRun=0;HaplotypeScore=0.9999;MQ=60.0;MQ0=0;MQRankSum=0.394;QD=21.18;ReadPosRankSum=1.38;SNPEFF_AMINO_ACID_CHANGE=T393;SNPEFF_CODON_CHANGE=acA/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_36553574_36553876;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TEKT2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000207457 GT:AD:DP:GQ:PL 0/1:5,13:18:99:411,0,117
1 36553836 rs12131875 A C 231.90 PASS AB=0.182;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.003;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=2.003;QD=21.08;ReadPosRankSum=-0.354;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADPRHL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373178 GT:AD:DP:GQ:PL 0/1:2,9:11:54.31:262,0,54
1 36563158 rs3738360 C A 407.99 PASS AB=0.514;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.376;DB;DP=37;Dels=0.0;FS=1.311;HRun=0;HaplotypeScore=0.8667;MQ=59.38;MQ0=0;MQRankSum=1.218;QD=11.03;ReadPosRankSum=-1.566;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADPRHL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373178 GT:AD:DP:GQ:PL 0/1:19,18:37:99:438,0,567
1 36565584 rs274753 C G 367.86 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.44;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL8A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303143 GT:AD:DP:GQ:PL 1/1:0,11:11:30.10:401,30,0
1 36565617 rs274754 G A 650.70 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.54;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL8A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303143 GT:AD:DP:GQ:PL 1/1:0,20:20:51.17:684,51,0
1 36602943 rs2231318 C T 238.32 PASS AB=0.652;AC=1;AF=0.50;AN=2;BaseQRankSum=2.136;DB;DP=23;Dels=0.0;FS=1.922;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=-0.109;QD=10.36;ReadPosRankSum=0.833;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRAPPC3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373159 GT:AD:DP:GQ:PL 0/1:15,8:23:99:268,0,389
1 36603290 rs2231317 C T 140.59 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=0.278;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.278;QD=12.78;ReadPosRankSum=0.597;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRAPPC3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373159 GT:AD:DP:GQ:PL 0/1:4,7:11:99:171,0,122
1 36641729 rs2296263 C T 116.29 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.72;QD=19.38;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAP7D1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000429533 GT:AD:DP:GQ:PL 0/1:2,4:6:64.40:146,0,64
1 36642991 rs6686192 C T 39.04 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.406;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=6.51;ReadPosRankSum=1.537;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAP7D1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000429533 GT:AD:DP:GQ:PL 0/1:3,3:6:69.03:69,0,111
1 36645811 rs41267273 T G 1538.96 PASS AB=0.354;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.78;DB;DP=99;Dels=0.0;FS=3.726;HRun=1;HaplotypeScore=3.1942;MQ=59.77;MQ0=0;MQRankSum=-0.617;QD=15.55;ReadPosRankSum=-1.652;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAP7D1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474796 GT:AD:DP:GQ:PL 0/1:35,64:99:99:1569,0,1045
1 36752433 rs6425977 C T 1694.86 PASS AB=0.41;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.517;DB;DP=100;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9995;MQ=59.77;MQ0=0;MQRankSum=0.664;QD=16.95;ReadPosRankSum=0.892;SNPEFF_AMINO_ACID_CHANGE=A201V;SNPEFF_CODON_CHANGE=gCc/gTc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_36751969_36752871;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=THRAP3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000354618 GT:AD:DP:GQ:PL 0/1:41,59:100:99:1725,0,1277
1 36754522 rs6425979 C A 174.95 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.16;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=THRAP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354618 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:208,15,0
1 36762396 rs1566589 C T 1791.69 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.6483;MQ=59.56;MQ0=0;QD=34.46;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=THRAP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466743 GT:AD:DP:GQ:PL 1/1:0,52:52:99:1825,141,0
1 36767400 rs882799 C T 393.06 PASS AB=0.316;AC=1;AF=0.50;AN=2;BaseQRankSum=3.377;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=1.359;QD=20.69;ReadPosRankSum=-1.886;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=THRAP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354618 GT:AD:DP:GQ:PL 0/1:6,13:19:99:423,0,158
1 36773405 rs35343437 T G 84.28 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.878;DB;DP=15;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.45;MQ0=0;MQRankSum=-1.776;QD=5.62;ReadPosRankSum=-0.796;SNPEFF_AMINO_ACID_CHANGE=P157;SNPEFF_CODON_CHANGE=ccT/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_36773371_36773426;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SH3D21;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000373139 GT:AD:DP:GQ:PL 0/1:10,5:15:99:114,0,333
1 36773819 rs11263871 C G 538.55 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.68;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=THRAP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354618 GT:AD:DP:GQ:PL 1/1:0,17:17:42.14:572,42,0
1 36785270 rs2282431 C T 143.54 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=16;Dels=0.0;FS=1.987;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.847;QD=8.97;ReadPosRankSum=-0.635;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM176B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270824 GT:AD:DP:GQ:PL 0/1:9,7:16:99:174,0,315
1 36807481 rs3795498 C T 450.40 PASS AB=0.528;AC=1;AF=0.50;AN=2;BaseQRankSum=2.855;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.8315;MQ=58.71;MQ0=0;MQRankSum=0.05;QD=12.51;ReadPosRankSum=1.172;SNPEFF_AMINO_ACID_CHANGE=A395T;SNPEFF_CODON_CHANGE=Gcc/Acc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_36805225_36807574;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STK40;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000373129 GT:AD:DP:GQ:PL 0/1:19,17:36:99:480,0,520
1 36810011 rs4653181 G A 30.31 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=6;Dels=0.0;FS=4.771;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.72;QD=5.05;ReadPosRankSum=-0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STK40;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359297 GT:AD:DP:GQ:PL 0/1:4,2:6:60.30:60,0,139
1 36814473 rs55703317 C T 348.61 PASS AB=0.552;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.11;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.197;QD=12.02;ReadPosRankSum=0.68;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STK40;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359297 GT:AD:DP:GQ:PL 0/1:16,13:29:99:379,0,530
1 36820927 rs11263875 G A 1915.13 PASS AB=0.493;AC=1;AF=0.50;AN=2;BaseQRankSum=4.401;DB;DP=134;Dels=0.0;FS=5.538;HRun=0;HaplotypeScore=2.5395;MQ=59.83;MQ0=0;MQRankSum=-0.826;QD=14.29;ReadPosRankSum=0.567;SNPEFF_AMINO_ACID_CHANGE=S150;SNPEFF_CODON_CHANGE=agC/agT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_36820807_36821034;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STK40;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000359297 GT:AD:DP:GQ:PL 0/1:66,68:134:99:1945,0,1682
1 36886364 rs2275478 C G 409.58 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9995;MQ=60.0;MQ0=0;QD=31.51;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OSCP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000525869 GT:AD:DP:GQ:PL 1/1:0,13:13:36.09:443,36,0
1 36887702 rs2236565 C T 1266.76 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.39;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OSCP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000528112 GT:AD:DP:GQ:PL 1/1:0,33:33:93.31:1300,93,0
1 36888302 rs35889349 C CT 481 PASS AB=0.591;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.493;DB;DP=39;FS=0.0;HRun=13;HaplotypeScore=162.8194;IndelType=I;MQ=58.0;MQ0=0;MQRankSum=0.907;QD=12.33;ReadPosRankSum=1.063;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OSCP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000528112 GT:AD:DP:GQ:PL 0/1:12,24:39:33.85:520,0,34
1 36889197 rs11263892 T C 233.15 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.14;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OSCP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354267 GT:AD:DP:GQ:PL 1/1:0,8:8:24.06:266,24,0
1 36893811 . AG A 140.24 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.504;DP=18;FS=0.0;HRun=1;HaplotypeScore=238.8324;IndelType=D;MQ=38.13;MQ0=0;MQRankSum=-1.736;QD=7.79;ReadPosRankSum=1.504;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OSCP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354267 GT:AD:DP:GQ:PL 1/1:8,10:18:11.57:182,12,0
1 36897543 rs150028921 C T 176.66 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=2.627;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.2;MQ0=0;MQRankSum=-0.101;QD=13.59;ReadPosRankSum=-0.101;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OSCP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000235532 GT:AD:DP:GQ:PL 0/1:6,7:13:99:207,0,178
1 36909385 rs10908303 G A 164.62 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.44;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OSCP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000235532 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:197,15,0
1 36923494 rs12023818 G C 1815.68 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.733;DB;DP=53;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.666;QD=34.26;ReadPosRankSum=-0.333;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MRPS15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373116 GT:AD:DP:GQ:PL 1/1:1,52:53:99:1849,102,0
1 36927733 rs111308179 G A 1080.94 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.9966;MQ=59.32;MQ0=0;QD=31.79;SNPEFF_AMINO_ACID_CHANGE=P69;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_36927689_36927764;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MRPS15;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000373116 GT:AD:DP:GQ:PL 1/1:0,34:34:87.28:1114,87,0
1 36935128 rs3917989 G A 342.45 PASS AB=0.071;AC=1;AF=0.50;AN=2;BaseQRankSum=1.24;DB;DP=14;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.488;QD=24.46;ReadPosRankSum=-0.496;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CSF3R;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469380 GT:AD:DP:GQ:PL 0/1:1,13:14:2.15:371,0,2
1 36937059 rs3917981 A G 3423.90 PASS AC=2;AF=1.00;AN=2;DB;DP=113;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9159;MQ=59.63;MQ0=0;QD=30.3;SNPEFF_AMINO_ACID_CHANGE=T420;SNPEFF_CODON_CHANGE=acT/acC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_36937034_36937247;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CSF3R;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000331941 GT:AD:DP:GQ:PL 1/1:0,113:113:99:3424,262,0
1 36937065 rs3917980 A G 3669.92 PASS AC=2;AF=1.00;AN=2;DB;DP=118;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=59.65;MQ0=0;QD=31.1;SNPEFF_AMINO_ACID_CHANGE=R418;SNPEFF_CODON_CHANGE=cgT/cgC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_36937034_36937247;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CSF3R;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000331941 GT:AD:DP:GQ:PL 1/1:0,118:118:99:3670,280,0
1 37324683 rs3738081 A C 370.52 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=1.416;DB;DP=42;Dels=0.0;FS=1.271;HRun=1;HaplotypeScore=0.0;MQ=58.89;MQ0=0;MQRankSum=-0.206;QD=8.82;ReadPosRankSum=0.206;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GRIK3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373091 GT:AD:DP:GQ:PL 0/1:28,14:42:99:401,0,898
1 37324935 rs12067006 T C 340.49 PASS AB=0.567;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.632;DB;DP=30;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.9867;MQ=59.38;MQ0=0;MQRankSum=-0.586;QD=11.35;ReadPosRankSum=0.586;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GRIK3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373091 GT:AD:DP:GQ:PL 0/1:17,13:30:99:370,0,617
1 37325477 rs6691840 A C 533.75 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=2.744;DB;DP=32;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.642;QD=16.68;ReadPosRankSum=1.148;SNPEFF_AMINO_ACID_CHANGE=S310A;SNPEFF_CODON_CHANGE=Tcc/Gcc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_37325445_37325618;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GRIK3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000373091 GT:AD:DP:GQ:PL 0/1:12,20:32:99:564,0,402
1 37335458 rs577094 A G 959.66 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GRIK3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373091 GT:AD:DP:GQ:PL 1/1:0,26:26:72.24:993,72,0
1 37335485 rs509284 A G 440.09 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.85;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GRIK3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373091 GT:AD:DP:GQ:PL 1/1:0,13:13:36.12:473,36,0
1 37335494 rs577813 G T 317.76 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.31;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GRIK3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373091 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:351,27,0
1 37335551 rs3738085 G A 127.98 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GRIK3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373091 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:160,12,0
1 37948212 rs215205 C G 608.23 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.01;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZC3H12A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471012 GT:AD:DP:GQ:PL 1/1:0,19:19:51.15:641,51,0
1 37959450 rs215210 T C 1209.38 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.44;MQ0=0;QD=29.5;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MEAF6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000448519 GT:AD:DP:GQ:PL 1/1:0,41:41:99:1242,102,0
1 37959470 rs215211 C G 1175.85 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.34;MQ0=0;QD=33.6;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MEAF6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000448519 GT:AD:DP:GQ:PL 1/1:0,35:35:90.27:1209,90,0
1 37959499 rs215212 G C 453.77 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.249;DB;DP=30;Dels=0.0;FS=1.527;HRun=0;HaplotypeScore=0.0;MQ=59.38;MQ0=0;MQRankSum=-0.954;QD=15.13;ReadPosRankSum=-0.083;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MEAF6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000448519 GT:AD:DP:GQ:PL 0/1:15,15:30:99:484,0,490
1 37975279 rs215214 C T 303.74 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MEAF6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296214 GT:AD:DP:GQ:PL 1/1:0,10:10:27.08:337,27,0
1 37975312 rs2036637 T C 82.33 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MEAF6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296214 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:114,9,0
1 37978773 rs4653296 T C 43.38 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=14.46;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MEAF6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296214 GT:AD:DP:GQ:PL 0/1:1,2:3:33.20:73,0,33
1 37978897 rs61779866 G A 276.49 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=2.038;DB;DP=28;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9469;MQ=60.0;MQ0=0;MQRankSum=-0.312;QD=9.87;ReadPosRankSum=0.168;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MEAF6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296214 GT:AD:DP:GQ:PL 0/1:18,10:28:99:306,0,622
1 38006359 rs2174769 A G 1419.24 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.79;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SNIP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296215 GT:AD:DP:GQ:PL 1/1:0,42:42:99:1452,111,0
1 38022452 rs2273014 C A 172.64 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.872;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.581;QD=12.33;ReadPosRankSum=0.839;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNALI1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296218 GT:AD:DP:GQ:PL 0/1:8,6:14:99:203,0,293
1 38023316 rs11749 C T 2945.61 PASS AB=0.51;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.645;DB;DP=208;DS;Dels=0.0;FS=1.863;HRun=0;HaplotypeScore=4.4944;MQ=59.89;MQ0=0;MQRankSum=-0.732;QD=14.16;ReadPosRankSum=1.113;SNPEFF_AMINO_ACID_CHANGE=A87V;SNPEFF_CODON_CHANGE=gCa/gTa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_38023204_38023349;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNALI1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000296218 GT:AD:DP:GQ:PL 0/1:106,102:208:99:2976,0,3329
1 38030696 rs6619 T C 642.90 PASS AB=0.378;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.396;DB;DP=37;Dels=0.0;FS=1.695;HRun=1;HaplotypeScore=0.0;MQ=58.11;MQ0=0;MQRankSum=-0.883;QD=17.38;ReadPosRankSum=-0.378;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNALI1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466723 GT:AD:DP:GQ:PL 0/1:14,23:37:99:673,0,391
1 38032294 rs41267325 C T 95.88 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.922;DB;DP=8;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.421;QD=11.99;ReadPosRankSum=0.922;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNALI1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466723 GT:AD:DP:GQ:PL 0/1:4,4:8:99:126,0,146
1 38034307 rs3896133 G A 110.27 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=2.017;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.922;QD=12.25;ReadPosRankSum=0.421;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNALI1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296218 GT:AD:DP:GQ:PL 0/1:5,4:9:99:140,0,105
1 38041121 rs186788161 A G 282.81 PASS AB=0.565;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.574;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=-0.031;QD=12.3;ReadPosRankSum=0.589;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GNL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469191 GT:AD:DP:GQ:PL 0/1:13,10:23:99:313,0,432
1 38048707 . A T 40.20 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=13.4;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GNL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373062 GT:AD:DP:GQ:PL 0/1:1,2:3:33.62:70,0,34
1 38049373 rs3753372 C T 410.05 PASS AB=0.278;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.253;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.099;QD=22.78;ReadPosRankSum=-0.887;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GNL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373062 GT:AD:DP:GQ:PL 0/1:5,13:18:99:440,0,157
1 38049552 rs6426024 C G 1388.37 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.18;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GNL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373062 GT:AD:DP:GQ:PL 1/1:0,46:46:99:1421,108,0
1 38052867 rs11463772 C CA 397.94 PASS AB=0.755;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.27;DB;DP=37;FS=2.783;HRun=13;HaplotypeScore=179.3756;IndelType=I;MQ=54.8;MQ0=0;MQRankSum=0.595;QD=10.76;ReadPosRankSum=0.238;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GNL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463351 GT:AD:DP:GQ:PL 0/1:25,11:37:99:437,0,118
1 38061572 rs6697632 G T 126.37 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.59;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GNL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373062 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:159,12,0
1 38078300 rs4652964 A G 327.89 PASS AB=0.577;AC=1;AF=0.50;AN=2;BaseQRankSum=0.208;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.467;QD=12.61;ReadPosRankSum=-0.778;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RSPO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356545 GT:AD:DP:GQ:PL 0/1:15,11:26:99:358,0,493
1 38078630 rs55852308 A T 616.67 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.992;DB;DP=35;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.93;MQ0=0;MQRankSum=-1.028;QD=17.62;ReadPosRankSum=-0.673;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RSPO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356545 GT:AD:DP:GQ:PL 0/1:14,21:35:99:647,0,400
1 38082122 rs12039431 G A 153.48 PASS AB=0.438;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.164;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=58.25;MQ0=0;MQRankSum=-0.529;QD=9.59;ReadPosRankSum=2.011;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RSPO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356545 GT:AD:DP:GQ:PL 0/1:7,9:16:99:183,0,216
1 38082123 rs12046650 C T 140.33 PASS AB=0.438;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.529;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=58.25;MQ0=0;MQRankSum=0.635;QD=8.77;ReadPosRankSum=1.905;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RSPO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356545 GT:AD:DP:GQ:PL 0/1:7,9:16:99:170,0,230
1 38148765 rs684260 A G 1060.68 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.1;MQ0=0;QD=34.22;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf109;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461359 GT:AD:DP:GQ:PL 1/1:0,31:31:84.23:1094,84,0
1 38149193 rs686083 C T 335.14 PASS AB=0.409;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.469;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9998;MQ=60.0;MQ0=0;MQRankSum=-0.2;QD=15.23;ReadPosRankSum=0.334;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf109;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461359 GT:AD:DP:GQ:PL 0/1:9,13:22:99:365,0,297
1 38155141 rs10627952 G GGT 758.26 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.017;DB;DP=35;FS=0.0;HRun=0;HaplotypeScore=87.5447;IndelType=I;MQ=60.31;MQ0=0;MQRankSum=1.617;QD=21.66;ReadPosRankSum=-1.017;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf109;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472584 GT:AD:DP:GQ:PL 0/1:20,15:35:99:797,0,846
1 38155265 rs586252 G C 1310.01 PASS AB=0.595;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.764;DB;DP=116;Dels=0.0;FS=3.486;HRun=0;HaplotypeScore=1.8273;MQ=60.0;MQ0=0;MQRankSum=-0.24;QD=11.29;ReadPosRankSum=2.048;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf109;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472584 GT:AD:DP:GQ:PL 0/1:69,47:116:99:1340,0,2005
1 38161694 rs615530 A G 325.11 PASS AB=0.294;AC=1;AF=0.50;AN=2;BaseQRankSum=0.474;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.264;QD=19.12;ReadPosRankSum=-0.474;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDCA8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327331 GT:AD:DP:GQ:PL 0/1:5,12:17:99:355,0,156
1 38164724 rs557290 C G 126.23 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=2.652;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.709;QD=8.42;ReadPosRankSum=-1.237;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDCA8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327331 GT:AD:DP:GQ:PL 0/1:6,9:15:99:156,0,142
1 38166022 rs513826 T C 272.88 PASS AB=0.609;AC=1;AF=0.50;AN=2;BaseQRankSum=2.74;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=-0.157;QD=11.86;ReadPosRankSum=0.472;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDCA8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327331 GT:AD:DP:GQ:PL 0/1:14,9:23:99:303,0,464
1 38166327 rs661460 A T 55.52 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.406;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.988;QD=9.25;ReadPosRankSum=0.406;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDCA8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327331 GT:AD:DP:GQ:PL 0/1:3,3:6:85.51:86,0,103
1 38171370 rs776050 G A 100.77 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.322;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.63;MQ0=0;MQRankSum=-0.684;QD=12.6;ReadPosRankSum=-1.517;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDCA8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327331 GT:AD:DP:GQ:PL 0/1:3,5:8:99:131,0,104
1 38174185 rs557897 G T 176.53 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.31;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDCA8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327331 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:209,15,0
1 38181503 rs7512242 C T 480.34 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=0.217;DB;DP=35;Dels=0.0;FS=12.441;HRun=0;HaplotypeScore=0.0;MQ=58.8;MQ0=0;MQRankSum=0.55;QD=13.72;ReadPosRankSum=0.783;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=EPHA10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373048 GT:AD:DP:GQ:PL 0/1:20,15:35:99:510,0,615
1 38184316 rs609437 T C 251.98 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.106;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.669;QD=11.45;ReadPosRankSum=-1.373;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=EPHA10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000453577 GT:AD:DP:GQ:PL 0/1:11,11:22:99:282,0,333
1 38185409 rs900677 C G 41.96 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.72;QD=6.99;ReadPosRankSum=-0.72;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=EPHA10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000453577 GT:AD:DP:GQ:PL 0/1:2,4:6:69.20:72,0,69
1 38185647 rs2170809 G A 576.62 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=2.081;DB;DP=50;Dels=0.0;FS=2.444;HRun=2;HaplotypeScore=0.0;MQ=59.07;MQ0=0;MQRankSum=-0.261;QD=11.53;ReadPosRankSum=-0.199;SNPEFF_AMINO_ACID_CHANGE=F327;SNPEFF_CODON_CHANGE=ttC/ttT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_38185581_38185730;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=EPHA10;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000330210 GT:AD:DP:GQ:PL 0/1:30,20:50:99:607,0,720
1 38185723 rs6670599 C T 389.39 PASS AB=0.564;AC=1;AF=0.50;AN=2;BaseQRankSum=2.989;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.4875;MQ=58.2;MQ0=0;MQRankSum=1.763;QD=9.98;ReadPosRankSum=-0.414;SNPEFF_AMINO_ACID_CHANGE=R302Q;SNPEFF_CODON_CHANGE=cGg/cAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_38185581_38185730;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=EPHA10;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000330210 GT:AD:DP:GQ:PL 0/1:22,17:39:99:419,0,517
1 38186206 rs12726343 C G 125.92 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.387;DB;DP=11;Dels=0.0;FS=6.154;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.143;QD=11.45;ReadPosRankSum=0.825;SNPEFF_AMINO_ACID_CHANGE=V238;SNPEFF_CODON_CHANGE=gtG/gtC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_38186023_38186226;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=EPHA10;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000330210 GT:AD:DP:GQ:PL 0/1:6,5:11:99:156,0,197
1 38186310 rs12729055 G A 67.75 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.406;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=11.29;ReadPosRankSum=1.537;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=EPHA10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000453577 GT:AD:DP:GQ:PL 0/1:3,3:6:91.12:98,0,91
1 38187447 rs579908 A G 199.97 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.998;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.368;QD=12.5;ReadPosRankSum=0.053;SNPEFF_AMINO_ACID_CHANGE=H172;SNPEFF_CODON_CHANGE=caT/caC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_38187332_38187517;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=EPHA10;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000330210 GT:AD:DP:GQ:PL 0/1:8,8:16:99:230,0,264
1 38187453 rs33970734 G A 154.58 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.058;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.289;QD=10.31;ReadPosRankSum=-0.174;SNPEFF_AMINO_ACID_CHANGE=A170;SNPEFF_CODON_CHANGE=gcC/gcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_38187332_38187517;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=EPHA10;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000330210 GT:AD:DP:GQ:PL 0/1:8,7:15:99:185,0,258
1 38188604 rs7517651 C T 105.21 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.729;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.159;QD=10.52;ReadPosRankSum=-0.361;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=EPHA10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000330210 GT:AD:DP:GQ:PL 0/1:4,6:10:99:135,0,144
1 38188697 rs16824420 T C 473.11 PASS AB=0.514;AC=1;AF=0.50;AN=2;BaseQRankSum=0.644;DB;DP=35;Dels=0.0;FS=1.348;HRun=2;HaplotypeScore=0.9867;MQ=59.47;MQ0=0;MQRankSum=-1.964;QD=13.52;ReadPosRankSum=-0.347;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=EPHA10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000330210 GT:AD:DP:GQ:PL 0/1:18,17:35:99:503,0,481
1 38188740 rs12405650 C T 587.35 PASS AB=0.512;AC=1;AF=0.50;AN=2;BaseQRankSum=2.053;DB;DP=43;Dels=0.0;FS=4.461;HRun=0;HaplotypeScore=0.0;MQ=59.57;MQ0=0;MQRankSum=0.935;QD=13.66;ReadPosRankSum=1.154;SNPEFF_AMINO_ACID_CHANGE=V140I;SNPEFF_CODON_CHANGE=Gtc/Atc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_38188713_38188838;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=EPHA10;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000330210 GT:AD:DP:GQ:PL 0/1:22,21:43:99:617,0,606
1 38188768 rs17464871 C T 545.81 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.861;DB;DP=36;Dels=0.0;FS=3.017;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.193;QD=15.16;ReadPosRankSum=-0.834;SNPEFF_AMINO_ACID_CHANGE=L130;SNPEFF_CODON_CHANGE=ctG/ctA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_38188713_38188838;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=EPHA10;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000330210 GT:AD:DP:GQ:PL 0/1:15,21:36:99:576,0,480
1 38188787 rs17511304 A G 507.40 PASS AB=0.441;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.804;DB;DP=34;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.902;QD=14.92;ReadPosRankSum=-0.555;SNPEFF_AMINO_ACID_CHANGE=L124P;SNPEFF_CODON_CHANGE=cTg/cCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_38188713_38188838;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=EPHA10;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000330210 GT:AD:DP:GQ:PL 0/1:15,19:34:99:537,0,492
1 38188880 rs11582856 C T 403.69 PASS AB=0.318;AC=1;AF=0.50;AN=2;BaseQRankSum=0.141;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9997;MQ=60.0;MQ0=0;MQRankSum=-0.916;QD=18.35;ReadPosRankSum=0.141;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=EPHA10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000330210 GT:AD:DP:GQ:PL 0/1:7,15:22:99:434,0,187
1 38188934 rs11577529 T C 239.86 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.041;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.204;QD=11.99;ReadPosRankSum=-0.857;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=EPHA10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000330210 GT:AD:DP:GQ:PL 0/1:10,10:20:99:270,0,235
1 38226964 rs55695553 C T 1053.01 PASS AB=0.529;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.888;DB;DP=88;Dels=0.01;FS=18.619;HRun=2;HaplotypeScore=5.6995;MQ=58.16;MQ0=0;MQRankSum=1.142;QD=11.83;ReadPosRankSum=-0.838;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=EPHA10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373048 GT:AD:DP:GQ:PL 0/1:46,41:88:99:1083,0,1237
1 38227086 rs4653328 A T 1030.02 PASS AB=0.507;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.51;DB;DP=74;Dels=0.0;FS=18.838;HRun=0;HaplotypeScore=3.1455;MQ=58.74;MQ0=0;MQRankSum=-1.651;QD=13.92;ReadPosRankSum=-0.254;SNPEFF_AMINO_ACID_CHANGE=F281I;SNPEFF_CODON_CHANGE=Ttc/Atc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_38225944_38227755;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=EPHA10;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000319637 GT:AD:DP:GQ:PL 0/1:37,36:74:99:1060,0,842
1 38260503 rs2306627 C T 107.18 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.181;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.05;MQ0=0;MQRankSum=0.825;QD=8.93;ReadPosRankSum=0.387;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MANEAL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373045 GT:AD:DP:GQ:PL 0/1:6,6:12:99:137,0,123
1 38272307 rs28701975 G C 79.59 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.231;QD=15.92;ReadPosRankSum=0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=YRDC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373044 GT:AD:DP:GQ:PL 0/1:2,3:5:68.83:110,0,69
1 38301220 rs28378413 G A 112.48 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.72;QD=18.75;ReadPosRankSum=0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373036 GT:AD:DP:GQ:PL 0/1:2,4:6:62.38:142,0,62
1 38301250 rs3912368 A G 96.37 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.937;DB;DP=9;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9665;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=10.71;ReadPosRankSum=-0.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373036 GT:AD:DP:GQ:PL 0/1:3,5:9:99:126,0,102
1 38301476 rs3762359 G A 129.94 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.143;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9134;MQ=58.05;MQ0=0;MQRankSum=0.143;QD=10.83;ReadPosRankSum=0.717;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373036 GT:AD:DP:GQ:PL 0/1:6,6:12:99:160,0,114
1 38327935 rs34544728 CAG C 752.04 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=4.424;DB;DP=30;FS=0.0;HRun=0;HaplotypeScore=153.5805;IndelType=D;MQ=58.97;MQ0=0;MQRankSum=1.588;QD=25.07;ReadPosRankSum=1.376;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INPP5B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470364 GT:AD:DP:GQ:PL 0/1:12,18:30:99:791,0,591
1 38327982 rs3843 G T 1039.81 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.038;DB;DP=55;Dels=0.0;FS=1.187;HRun=0;HaplotypeScore=0.0;MQ=59.86;MQ0=0;MQRankSum=0.499;QD=18.91;ReadPosRankSum=-0.516;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INPP5B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470364 GT:AD:DP:GQ:PL 0/1:20,35:55:99:1070,0,608
1 38332074 rs149926262 TCTCTCACA T 611.21 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=3.001;DB;DP=16;FS=0.0;HRun=0;HaplotypeScore=139.151;IndelType=D;MQ=41.15;MQ0=0;MQRankSum=-1.164;QD=38.2;ReadPosRankSum=0.184;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INPP5B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470364 GT:AD:DP:GQ:PL 0/1:6,8:16:99:650,0,399
1 38334317 rs2306425 T A 107.70 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.068;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=-0.201;QD=7.69;ReadPosRankSum=0.421;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INPP5B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373023 GT:AD:DP:GQ:PL 0/1:7,7:14:99:138,0,216
1 38334318 rs56217551 C A 107.70 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.656;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=-0.377;QD=8.28;ReadPosRankSum=0.935;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INPP5B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373023 GT:AD:DP:GQ:PL 0/1:7,6:13:99:138,0,214
1 38338795 rs11488569 A G 733.67 PASS AB=0.517;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.53;DB;DP=60;Dels=0.0;FS=7.082;HRun=0;HaplotypeScore=0.0;MQ=59.62;MQ0=0;MQRankSum=-0.059;QD=12.23;ReadPosRankSum=1.598;SNPEFF_AMINO_ACID_CHANGE=M501T;SNPEFF_CODON_CHANGE=aTg/aCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_38338602_38338837;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INPP5B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000373027 GT:AD:DP:GQ:PL 0/1:31,29:60:99:764,0,923
1 38341518 rs12752414 G A 51 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.5;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INPP5B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373023 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
1 38345896 rs2306427 A C 539.77 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=2.345;DB;DP=44;Dels=0.0;FS=10.79;HRun=0;HaplotypeScore=0.0;MQ=58.95;MQ0=0;MQRankSum=-0.813;QD=12.27;ReadPosRankSum=0.247;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INPP5B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373023 GT:AD:DP:GQ:PL 0/1:24,20:44:99:570,0,820
1 38352849 rs2279261 G C 259.02 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.263;DB;DP=24;Dels=0.0;FS=2.114;HRun=1;HaplotypeScore=0.9989;MQ=60.0;MQ0=0;MQRankSum=0.556;QD=10.79;ReadPosRankSum=-0.849;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INPP5B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373023 GT:AD:DP:GQ:PL 0/1:14,10:24:99:289,0,496
1 38355103 rs2291161 G T 128 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.743;DB;DP=14;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.485;QD=9.14;ReadPosRankSum=0.065;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INPP5B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373023 GT:AD:DP:GQ:PL 0/1:8,6:14:99:158,0,294
1 38397390 . T C 128.84 PASS AB=0.652;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.161;DP=23;Dels=0.0;FS=4.771;HRun=3;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=-1.13;QD=5.6;ReadPosRankSum=-0.742;SNPEFF_AMINO_ACID_CHANGE=R243G;SNPEFF_CODON_CHANGE=Agg/Ggg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_38394209_38397725;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INPP5B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000373021 GT:AD:DP:GQ:PL 0/1:15,8:23:99:159,0,504
1 38423853 rs9293 G C 1102.33 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.62;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SF3A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000487062 GT:AD:DP:GQ:PL 1/1:0,36:36:81.27:1135,81,0
1 38425724 rs17531342 T C 486.33 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.84;MQ0=0;QD=24.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SF3A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373019 GT:AD:DP:GQ:PL 1/1:0,20:20:42.13:519,42,0
1 38425895 rs28675056 T C 500.15 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.82;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SF3A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373019 GT:AD:DP:GQ:PL 1/1:0,21:21:48.11:533,48,0
1 38434919 rs4653342 C T 364.23 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.02;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SF3A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460925 GT:AD:DP:GQ:PL 1/1:0,13:13:33.10:397,33,0
1 38442547 rs10890216 G A 1745.64 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.64;MQ0=0;QD=33.57;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SF3A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461869 GT:AD:DP:GQ:PL 1/1:0,52:52:99:1779,135,0
1 38444749 rs7555461 T C 1459.73 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.48;MQ0=0;QD=33.18;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SF3A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470585 GT:AD:DP:GQ:PL 1/1:0,44:44:99:1493,114,0
1 38447234 rs7519426 T G 91.96 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.65;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SF3A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462258 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:124,9,0
1 38447266 rs7512424 C T 325.27 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.14;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SF3A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462258 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:358,27,0
1 38447615 rs7533079 G T 346.97 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=8;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.13;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SF3A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462258 GT:AD:DP:GQ:PL 1/1:0,15:15:33.10:380,33,0
1 38449910 rs11210870 T C 370.04 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.84;SNPEFF_AMINO_ACID_CHANGE=E133;SNPEFF_CODON_CHANGE=gaA/gaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_38449841_38449932;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SF3A3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000373019 GT:AD:DP:GQ:PL 1/1:0,12:12:30.10:403,30,0
1 38450367 rs6680796 A G 1734.69 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.67;DB;DP=56;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.557;QD=30.98;ReadPosRankSum=0.124;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SF3A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373019 GT:AD:DP:GQ:PL 1/1:1,55:56:99:1768,141,0
1 38453576 rs10890285 A C 512.09 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.01;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SF3A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373019 GT:AD:DP:GQ:PL 1/1:0,16:16:45.14:545,45,0
1 38455389 rs3935867 C T 322.80 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.28;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SF3A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373019 GT:AD:DP:GQ:PL 1/1:0,10:10:27.09:356,27,0
1 38462898 rs4274021 T A 303.49 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.72;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FHL3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477194 GT:AD:DP:GQ:PL 1/1:0,9:9:27.08:336,27,0
1 38462905 rs12724533 C G 344.60 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.33;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FHL3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477194 GT:AD:DP:GQ:PL 1/1:0,11:11:33.09:378,33,0
1 38463504 rs7366048 C T 2342.27 PASS AC=2;AF=1.00;AN=2;DB;DP=70;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=59.67;MQ0=0;QD=33.46;SNPEFF_AMINO_ACID_CHANGE=P180;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_38463356_38463542;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FHL3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000373016 GT:AD:DP:GQ:PL 1/1:0,69:70:99:2375,175,0
1 38464639 rs4570384 C G 1296.43 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9789;MQ=59.45;MQ0=0;QD=38.13;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FHL3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373016 GT:AD:DP:GQ:PL 1/1:0,34:34:99:1329,99,0
1 38483296 rs71905376 A ATT 471.09 PASS AB=0.644;AC=1;AF=0.50;AN=2;BaseQRankSum=3.441;DB;DP=29;FS=5.166;HRun=13;HaplotypeScore=241.1909;IndelType=I;MQ=48.61;MQ0=0;MQRankSum=-1.37;QD=16.24;ReadPosRankSum=-1.704;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=UTP11L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000486563 GT:AD:DP:GQ:PL 0/1:12,9:29:99:510,0,101
1 38489024 rs41302748 A G 42.59 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.29;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=UTP11L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000483182 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:74,6,0
1 39322323 rs4360495 C G 90.17 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.06;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RRAGC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373001 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:122,9,0
1 39340282 rs880303 C T 2041.91 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.901;DB;DP=63;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=59.7;MQ0=0;MQRankSum=0.02;QD=32.41;ReadPosRankSum=0.176;SNPEFF_AMINO_ACID_CHANGE=V497I;SNPEFF_CODON_CHANGE=Gta/Ata;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_39339739_39341865;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GJA9;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000357771 GT:AD:DP:GQ:PL 1/1:2,61:63:99:2075,115,0
1 39352083 rs4491033 T G 473.72 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.61;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GJA9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357771 GT:AD:DP:GQ:PL 1/1:0,16:16:39.13:507,39,0
1 39352271 rs2147914 G T 3060.66 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.062;DB;DP=93;Dels=0.0;FS=3.25;HRun=0;HaplotypeScore=0.9578;MQ=60.0;MQ0=0;MQRankSum=0.466;QD=32.91;ReadPosRankSum=-0.54;SNPEFF_AMINO_ACID_CHANGE=L273M;SNPEFF_CODON_CHANGE=Ctg/Atg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_39351968_39352355;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RHBDL2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000289248 GT:AD:DP:GQ:PL 1/1:1,92:93:99:3094,187,0
1 39352492 rs3790441 G A 462.80 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.6;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RHBDL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289248 GT:AD:DP:GQ:PL 1/1:0,13:13:39.13:496,39,0
1 39358600 rs12037982 G A 92.19 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.73;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RHBDL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289248 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:124,9,0
1 39361615 rs9438984 G A 801.74 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.18;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RHBDL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289248 GT:AD:DP:GQ:PL 1/1:0,21:21:63.18:835,63,0
1 39384626 . G A 635.27 PASS AB=0.593;AC=1;AF=0.50;AN=2;BaseQRankSum=0.795;DP=59;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.316;QD=10.77;ReadPosRankSum=-0.177;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RHBDL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289248 GT:AD:DP:GQ:PL 0/1:35,24:59:99:665,0,976
1 39385086 rs7522863 A C 207 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.5;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RHBDL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289248 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:240,18,0
1 39457293 rs111311750 T C 33.68 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=16.84;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AKIRIN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372975 GT:AD:DP:GQ:PL 1/1:0,2:2:6:65,6,0
1 39466626 rs11205525 A G 2094.11 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9997;MQ=60.0;MQ0=0;QD=31.73;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AKIRIN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372975 GT:AD:DP:GQ:PL 1/1:0,66:66:99:2127,181,0
1 39466786 rs10888613 C G 2467.73 PASS AC=2;AF=1.00;AN=2;DB;DP=74;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.43;MQ0=0;QD=33.35;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AKIRIN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000529075 GT:AD:DP:GQ:PL 1/1:0,73:74:99:2501,190,0
1 39494666 rs111836713 C CT 75.81 PASS AB=0.792;AC=1;AF=0.50;AN=2;BaseQRankSum=1.324;DB;DP=19;FS=0.0;HRun=15;HaplotypeScore=155.4741;IndelType=I;MQ=52.58;MQ0=0;MQRankSum=-0.34;QD=3.99;ReadPosRankSum=-0.428;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NDUFS5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372967 GT:AD:DP:GQ:PL 0/1:12,5:19:49.46:115,0,49
1 39494687 rs3768323 G A 315 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=52.32;MQ0=0;QD=26.25;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NDUFS5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372967 GT:AD:DP:GQ:PL 1/1:0,12:12:27.09:348,27,0
1 39494760 rs3768322 G A 128.30 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.08;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NDUFS5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372967 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:161,12,0
1 39549983 rs3736890 G A 623.52 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.603;DB;DP=52;Dels=0.0;FS=13.823;HRun=0;HaplotypeScore=0.5784;MQ=59.56;MQ0=0;MQRankSum=0.117;QD=11.99;ReadPosRankSum=0.487;SNPEFF_AMINO_ACID_CHANGE=S31;SNPEFF_CODON_CHANGE=tcG/tcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_39549839_39550110;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MACF1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000317713 GT:AD:DP:GQ:PL 0/1:28,24:52:99:654,0,812
1 39550210 rs260972 C T 532.05 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.55;MQ0=0;QD=33.25;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MACF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317713 GT:AD:DP:GQ:PL 1/1:0,16:16:45.13:565,45,0
1 39550261 rs76104968 C T 40.96 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.026;QD=10.24;ReadPosRankSum=-1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MACF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317713 GT:AD:DP:GQ:PL 0/1:2,2:4:59.04:71,0,59
1 39696647 rs2490951 G A 765.70 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.28;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MACF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317713 GT:AD:DP:GQ:PL 1/1:0,20:20:60.19:799,60,0
1 39696718 rs1932507 C A 913.03 PASS AB=0.532;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.737;DB;DP=62;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9832;MQ=59.63;MQ0=0;MQRankSum=-0.014;QD=14.73;ReadPosRankSum=0.903;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MACF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317713 GT:AD:DP:GQ:PL 0/1:33,29:62:99:943,0,1154
1 39757799 rs16826036 G C 326.41 PASS AB=0.48;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.236;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.462;QD=13.06;ReadPosRankSum=-0.68;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MACF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484393 GT:AD:DP:GQ:PL 0/1:12,13:25:99:356,0,423
1 39758955 rs2484749 A G 430.99 PASS AB=0.385;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.031;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.343;QD=16.58;ReadPosRankSum=-0.975;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MACF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317713 GT:AD:DP:GQ:PL 0/1:10,16:26:99:461,0,350
1 39759367 rs113962165 AGCTTGGGTG A 458.36 PASS AB=0.778;AC=1;AF=0.50;AN=2;BaseQRankSum=3.325;DB;DP=21;FS=0.0;HRun=0;HaplotypeScore=162.4108;IndelType=D;MQ=50.72;MQ0=0;MQRankSum=-3.419;QD=21.83;ReadPosRankSum=1.077;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MACF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317713 GT:AD:DP:GQ:PL 0/1:15,6:21:99:497,0,1697
1 39766041 rs41270803 A G 367.54 PASS AB=0.368;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.127;DB;DP=19;Dels=0.0;FS=4.337;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.211;QD=19.34;ReadPosRankSum=-0.718;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MACF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317713 GT:AD:DP:GQ:PL 0/1:7,12:19:99:398,0,237
1 39788761 rs79668525 C G 149.86 PASS AB=0.727;AC=1;AF=0.50;AN=2;BaseQRankSum=0.037;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9999;MQ=59.15;MQ0=0;MQRankSum=1.364;QD=6.81;ReadPosRankSum=-0.995;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MACF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000524432 GT:AD:DP:GQ:PL 0/1:16,6:22:99:180,0,552
1 39797055 rs16826069 A G 957.60 PASS AB=0.57;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.727;DB;DP=86;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.83;MQ=60.0;MQ0=0;MQRankSum=0.474;QD=11.13;ReadPosRankSum=0.545;SNPEFF_AMINO_ACID_CHANGE=I1604V;SNPEFF_CODON_CHANGE=Ata/Gta;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_39796875_39802325;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MACF1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000372915 GT:AD:DP:GQ:PL 0/1:49,37:86:99:988,0,1590
1 39799912 rs75770915 C T 937.42 PASS AB=0.53;AC=1;AF=0.50;AN=2;BaseQRankSum=2.287;DB;DP=66;Dels=0.0;FS=3.501;HRun=0;HaplotypeScore=0.0;MQ=59.72;MQ0=0;MQRankSum=-0.077;QD=14.2;ReadPosRankSum=-0.565;SNPEFF_AMINO_ACID_CHANGE=T2556M;SNPEFF_CODON_CHANGE=aCg/aTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_39796875_39802325;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MACF1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000372915 GT:AD:DP:GQ:PL 0/1:35,31:66:99:967,0,1075
1 39801815 rs41270807 A C 785.42 PASS AB=0.547;AC=1;AF=0.50;AN=2;BaseQRankSum=0.782;DB;DP=64;Dels=0.0;FS=5.166;HRun=0;HaplotypeScore=2.9992;MQ=59.42;MQ0=0;MQRankSum=-0.243;QD=12.27;ReadPosRankSum=-1.376;SNPEFF_AMINO_ACID_CHANGE=K1625N;SNPEFF_CODON_CHANGE=aaA/aaC;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_39796810_39802325;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MACF1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000289893 GT:AD:DP:GQ:PL 0/1:35,29:64:99:815,0,1130
1 39806610 rs3116396 C T 1488.61 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.29;MQ0=0;QD=36.31;SNPEFF_AMINO_ACID_CHANGE=C1962;SNPEFF_CODON_CHANGE=tgC/tgT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_39806476_39806625;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MACF1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000289893 GT:AD:DP:GQ:PL 1/1:0,41:41:99:1522,114,0
1 39812518 rs16826087 C T 100.01 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=0.956;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.221;QD=12.5;ReadPosRankSum=-0.684;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MACF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289893 GT:AD:DP:GQ:PL 0/1:3,5:8:94.95:130,0,95
1 39812620 rs2490944 G T 970.05 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=2.7579;MQ=59.23;MQ0=0;QD=32.34;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MACF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289893 GT:AD:DP:GQ:PL 1/1:0,30:30:78.25:1003,78,0
1 39812822 rs2761764 C A 2581.47 PASS AC=2;AF=1.00;AN=2;DB;DP=75;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.9831;MQ=59.36;MQ0=0;QD=34.42;SNPEFF_AMINO_ACID_CHANGE=A2025;SNPEFF_CODON_CHANGE=gcC/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_39812649_39812882;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MACF1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000289893 GT:AD:DP:GQ:PL 1/1:0,75:75:99:2614,193,0
1 39815143 rs16826093 T A 498.59 PASS AB=0.577;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.311;DB;DP=52;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=2.038;QD=9.59;ReadPosRankSum=1.426;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MACF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289893 GT:AD:DP:GQ:PL 0/1:30,22:52:99:529,0,815
1 39815344 rs41270811 G A 141.69 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.568;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.741;QD=14.17;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MACF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289893 GT:AD:DP:GQ:PL 0/1:4,6:10:99:172,0,139
1 39823032 rs150882596 A AT 563.71 PASS AB=0.676;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.211;DB;DP=46;FS=1.317;HRun=9;HaplotypeScore=131.4011;IndelType=I;MQ=59.97;MQ0=0;MQRankSum=0.97;QD=12.25;ReadPosRankSum=-0.239;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MACF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289893 GT:AD:DP:GQ:PL 0/1:24,22:46:99:603,0,394
1 39824718 rs2256614 C G 930.66 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.78;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MACF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000530262 GT:AD:DP:GQ:PL 1/1:0,24:24:72.23:964,72,0
1 39826391 rs10632223 A ATTAT 710.73 PASS AC=2;AF=1.00;AN=2;DB;DP=12;FS=0.0;HRun=0;HaplotypeScore=43.5451;IndelType=I;MQ=52.6;MQ0=0;QD=59.23;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MACF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000530262 GT:AD:DP:GQ:PL 1/1:2,8:12:33.11:753,33,0
1 39833675 rs111840698 GT G 241.01 PASS AC=2;AF=1.00;AN=2;DB;DP=11;FS=0.0;HRun=8;HaplotypeScore=71.5007;IndelType=D;MQ=54.46;MQ0=0;QD=21.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MACF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289893 GT:AD:DP:GQ:PL 1/1:2,9:11:30.03:283,30,0
1 39835540 rs582883 T C 133.38 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.34;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MACF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289893 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:166,12,0
1 39835817 rs2296172 A G 473.24 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=2.079;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.922;QD=13.92;ReadPosRankSum=-1.247;SNPEFF_AMINO_ACID_CHANGE=M2290V;SNPEFF_CODON_CHANGE=Atg/Gtg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_39835702_39835858;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MACF1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000317713 GT:AD:DP:GQ:PL 0/1:16,18:34:99:503,0,448
1 39838174 rs80197726 T C 745.97 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=2.802;DB;DP=51;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.557;QD=14.63;ReadPosRankSum=0.085;SNPEFF_AMINO_ACID_CHANGE=S2311;SNPEFF_CODON_CHANGE=agT/agC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_39838151_39838268;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MACF1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000317713 GT:AD:DP:GQ:PL 0/1:24,27:51:99:776,0,768
1 39843958 rs663449 G A 43.95 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=51.77;MQ0=0;QD=14.65;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MACF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000476350 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:75,6,0
1 39844708 rs660293 T C 1157.06 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=39.9;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MACF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289893 GT:AD:DP:GQ:PL 1/1:0,29:29:87.29:1190,87,0
1 39845296 rs79522721 T G 491.28 PASS AB=0.238;AC=1;AF=0.50;AN=2;BaseQRankSum=1.528;DB;DP=21;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.734;MQ=58.89;MQ0=0;MQRankSum=1.032;QD=23.39;ReadPosRankSum=0.702;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MACF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289893 GT:AD:DP:GQ:PL 0/1:5,16:21:99:521,0,141
1 39851009 rs112451431 C T 31.95 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.231;QD=6.39;ReadPosRankSum=1.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MACF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289893 GT:AD:DP:GQ:PL 0/1:3,2:5:61.94:62,0,108
1 39878815 rs1746842 A G 531.56 PASS AB=0.259;AC=1;AF=0.50;AN=2;BaseQRankSum=1.356;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.89;MQ0=0;MQRankSum=-0.415;QD=19.69;ReadPosRankSum=-1.134;SNPEFF_AMINO_ACID_CHANGE=I824V;SNPEFF_CODON_CHANGE=Att/Gtt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_39876151_39882154;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RP4-562N20.1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000530275 GT:AD:DP:GQ:PL 0/1:7,20:27:99:562,0,174
1 39879340 rs141110458 G C 89.12 PASS AB=0.688;AC=1;AF=0.50;AN=2;BaseQRankSum=0.778;DB;DP=16;Dels=0.0;FS=6.421;HRun=1;HaplotypeScore=0.9983;MQ=52.45;MQ0=1;MQRankSum=-0.071;QD=5.57;ReadPosRankSum=0.071;SNPEFF_AMINO_ACID_CHANGE=A999P;SNPEFF_CODON_CHANGE=Gct/Cct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_39876151_39882154;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RP4-562N20.1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000530275 GT:AD:DP:GQ:PL 0/1:11,5:16:99:119,0,276
1 39879366 rs604316 T C 586.49 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=3.5613;MQ=51.15;MQ0=1;QD=25.5;SNPEFF_AMINO_ACID_CHANGE=P1007;SNPEFF_CODON_CHANGE=ccT/ccC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_39876151_39882154;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RP4-562N20.1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000530275 GT:AD:DP:GQ:PL 1/1:0,22:23:51.13:619,51,0
1 39879405 . C T 59.85 PASS AB=0.727;AC=1;AF=0.50;AN=2;BaseQRankSum=0.258;DP=22;Dels=0.0;FS=5.843;HRun=0;HaplotypeScore=4.825;MQ=54.21;MQ0=0;MQRankSum=-1.88;QD=2.72;ReadPosRankSum=0.405;SNPEFF_AMINO_ACID_CHANGE=S1020;SNPEFF_CODON_CHANGE=tcC/tcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_39876151_39882154;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RP4-562N20.1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000530275 GT:AD:DP:GQ:PL 0/1:16,6:22:89.84:90,0,424
1 39879419 . T C 52.75 PASS AB=0.762;AC=1;AF=0.50;AN=2;BaseQRankSum=1.898;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.8288;MQ=53.92;MQ0=0;MQRankSum=-3.287;QD=2.51;ReadPosRankSum=-0.324;SNPEFF_AMINO_ACID_CHANGE=V1025A;SNPEFF_CODON_CHANGE=gTt/gCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_39876151_39882154;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RP4-562N20.1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000530275 GT:AD:DP:GQ:PL 0/1:16,5:21:82.74:83,0,441
1 39880274 rs783823 A G 334.03 PASS AB=0.389;AC=1;AF=0.50;AN=2;BaseQRankSum=0.634;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.272;QD=18.56;ReadPosRankSum=1.902;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MACF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289893 GT:AD:DP:GQ:PL 0/1:7,11:18:99:364,0,239
1 39880319 rs3768302 T G 63.13 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=1.652;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.876;QD=7.01;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MACF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289893 GT:AD:DP:GQ:PL 0/1:5,4:9:93.13:93,0,182
1 39889677 rs663892 G A 2621.44 PASS AC=2;AF=1.00;AN=2;DB;DP=70;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.73;MQ0=0;QD=37.45;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MACF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289893 GT:AD:DP:GQ:PL 1/1:0,70:70:99:2654,196,0
1 39893093 rs625384 C T 1883.38 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=59.5;MQ0=0;QD=34.24;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MACF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289893 GT:AD:DP:GQ:PL 1/1:0,55:55:99:1916,153,0
1 39894811 rs2995513 T C 213.70 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=1.093;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.66;QD=16.44;ReadPosRankSum=0.66;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MACF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000482035 GT:AD:DP:GQ:PL 0/1:6,7:13:99:244,0,212
1 39894839 rs645061 A G 854.29 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.83;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MACF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000482035 GT:AD:DP:GQ:PL 1/1:0,22:22:66.21:887,66,0
1 39895367 rs184254180 A G 114.03 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.093;DB;DP=13;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=58.2;MQ0=0;MQRankSum=0.312;QD=8.77;ReadPosRankSum=0.101;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MACF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000482035 GT:AD:DP:GQ:PL 0/1:6,7:13:99:144,0,205
1 39895460 rs683135 G A 1616.20 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.54;MQ0=0;QD=32.32;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MACF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000482035 GT:AD:DP:GQ:PL 1/1:0,50:50:99:1649,123,0
1 39908506 rs587404 G A 725.32 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.97;SNPEFF_AMINO_ACID_CHANGE=A4220T;SNPEFF_CODON_CHANGE=Gcc/Acc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_39908386_39908583;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MACF1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000539005 GT:AD:DP:GQ:PL 1/1:0,22:22:57.18:758,57,0
1 39910684 rs617577 T C 111.34 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.731;QD=22.27;ReadPosRankSum=-0.731;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MACF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469490 GT:AD:DP:GQ:PL 0/1:1,4:5:27.60:141,0,28
1 39913351 rs2296173 A G 485.94 PASS AB=0.622;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.37;DB;DP=45;Dels=0.0;FS=6.422;HRun=0;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=0.691;QD=10.8;ReadPosRankSum=-1.65;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MACF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289893 GT:AD:DP:GQ:PL 0/1:28,17:45:99:516,0,858
1 39913643 rs783837 C G 451.70 PASS AB=0.3;AC=1;AF=0.50;AN=2;BaseQRankSum=0.041;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=0.949;QD=21.51;ReadPosRankSum=1.196;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MACF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289893 GT:AD:DP:GQ:PL 0/1:6,14:21:99:482,0,178
1 39914363 rs668556 G C 2409.47 PASS AC=2;AF=1.00;AN=2;DB;DP=72;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.68;MQ0=0;QD=33.46;SNPEFF_AMINO_ACID_CHANGE=S4540T;SNPEFF_CODON_CHANGE=aGt/aCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_39914266_39914435;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MACF1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000539005 GT:AD:DP:GQ:PL 1/1:0,72:72:99:2442,181,0
1 39917888 rs1746838 C A 3477.33 PASS AB=0.446;AC=1;AF=0.50;AN=2;BaseQRankSum=7.04;DB;DP=204;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=5.3888;MQ=59.89;MQ0=0;MQRankSum=1.323;QD=17.05;ReadPosRankSum=0.589;SNPEFF_AMINO_ACID_CHANGE=R4638;SNPEFF_CODON_CHANGE=Cga/Aga;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_39917828_39918022;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MACF1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000539005 GT:AD:DP:GQ:PL 0/1:91,113:204:99:3477,0,2575
1 39919234 rs687848 A G 146.43 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.16;MQ0=0;QD=29.29;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MACF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289893 GT:AD:DP:GQ:PL 1/1:0,5:5:15.04:179,15,0
1 39923894 rs145179040 T A 83.72 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=20.93;ReadPosRankSum=0.727;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MACF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000487656 GT:AD:DP:GQ:PL 0/1:1,3:4:27.97:114,0,28
1 39927507 rs783820 G A 619.72 PASS AB=0.328;AC=1;AF=0.50;AN=2;BaseQRankSum=1.155;DB;DP=63;Dels=0.03;FS=3.169;HRun=2;HaplotypeScore=6.3986;MQ=47.79;MQ0=0;MQRankSum=0.19;QD=9.53;ReadPosRankSum=-1.096;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MACF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289893 GT:AD:DP:GQ:PL 0/1:20,41:63:99:650,0,515
1 39934713 rs6698781 A G 47.98 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=49.84;MQ0=0;QD=23.99;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MACF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000497964 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
1 39957913 rs4660269 A G 80.56 PASS AB=0.706;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.477;DB;DP=17;Dels=0.0;FS=2.331;HRun=0;HaplotypeScore=0.0;MQ=57.23;MQ0=0;MQRankSum=-0.264;QD=4.74;ReadPosRankSum=1.107;SNPEFF_AMINO_ACID_CHANGE=M84V;SNPEFF_CODON_CHANGE=Atg/Gtg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_39957318_39957997;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BMP8A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000331593 GT:AD:DP:GQ:PL 0/1:12,5:17:99:111,0,386
1 39977258 . A C 80.38 MQFilter40 AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.684;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=15.9;MQ0=7;MQRankSum=1.517;QD=5.36;ReadPosRankSum=-1.92;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BMP8A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331593 GT:AD:DP:GQ:PL 0/1:8,7:15:32.35:110,0,32
1 39981522 . G A 193.13 MQFilter40 AB=0.736;AC=1;AF=0.50;AN=2;BaseQRankSum=0.116;DP=87;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=23.3;MQ0=32;MQRankSum=-0.599;QD=2.22;ReadPosRankSum=-0.463;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BMP8A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331593 GT:AD:DP:GQ:PL 0/1:64,23:87:99:223,0,848
1 39987899 rs710910 G A 50.52 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BMP8A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331593 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
1 39988231 rs150437571 A G 246.56 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=1.247;DB;DP=22;Dels=0.0;FS=3.245;HRun=1;HaplotypeScore=0.0;MQ=48.39;MQ0=2;MQRankSum=-1.096;QD=11.21;ReadPosRankSum=-0.113;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BMP8A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331593 GT:AD:DP:GQ:PL 0/1:12,10:22:99:277,0,344
1 39991588 rs3738676 G T 198.72 PASS AB=0.222;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.179;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9578;MQ=57.9;MQ0=0;MQRankSum=-1.179;QD=22.08;ReadPosRankSum=0.762;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BMP8A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331593 GT:AD:DP:GQ:PL 0/1:2,7:9:57.17:229,0,57
1 40028180 rs4660293 A G 76.18 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.406;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.82;MQ0=0;MQRankSum=0.406;QD=12.7;ReadPosRankSum=0.406;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=PABPC4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461578 GT:AD:DP:GQ:PL 0/1:3,3:6:99:106,0,107
1 40035686 rs17513135 C T 275.57 PASS AB=0.552;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.162;DB;DP=29;Dels=0.0;FS=6.037;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.548;QD=9.5;ReadPosRankSum=-0.636;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=PABPC4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000451091 GT:AD:DP:GQ:PL 0/1:16,13:29:99:306,0,574
1 40036847 rs2293476 G C 1544.69 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=0.236;DB;DP=77;Dels=0.0;FS=11.633;HRun=1;HaplotypeScore=0.7887;MQ=59.16;MQ0=0;MQRankSum=-0.505;QD=20.06;ReadPosRankSum=0.55;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=PABPC4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000451091 GT:AD:DP:GQ:PL 0/1:28,49:77:99:1575,0,726
1 40096053 rs1148945 T C 1198.89 PASS AB=0.388;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.436;DB;DP=67;Dels=0.0;FS=1.536;HRun=1;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=1.37;QD=17.89;ReadPosRankSum=0.997;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEYL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372852 GT:AD:DP:GQ:PL 0/1:26,41:67:99:1229,0,767
1 40098328 rs784625 T C 4163.17 PASS AC=2;AF=1.00;AN=2;DB;DP=135;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=5.4282;MQ=59.33;MQ0=0;QD=30.84;SNPEFF_AMINO_ACID_CHANGE=H19R;SNPEFF_CODON_CHANGE=cAc/cGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_40098321_40098387;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEYL;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000535435 GT:AD:DP:GQ:PL 1/1:0,135:135:99:4163,328,0
1 40137754 rs2871601 G A 425.10 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.535;DB;DP=21;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=55.21;MQ0=0;MQRankSum=-0.658;QD=20.24;ReadPosRankSum=-1.973;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NT5C1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000235628 GT:AD:DP:GQ:PL 0/1:6,15:21:99:455,0,193
1 40149515 rs784633 A G 235.26 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HPCAL4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372844 GT:AD:DP:GQ:PL 1/1:0,9:9:24.06:268,24,0
1 40149551 rs11206617 G C 222.55 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.022;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.71;MQ0=0;MQRankSum=0.844;QD=12.36;ReadPosRankSum=-0.044;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HPCAL4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372844 GT:AD:DP:GQ:PL 0/1:8,10:18:99:253,0,220
1 40149642 rs784634 G T 826.59 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.13;MQ0=0;QD=33.06;SNPEFF_AMINO_ACID_CHANGE=R107;SNPEFF_CODON_CHANGE=cgC/cgA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_40149609_40149824;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HPCAL4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000450300 GT:AD:DP:GQ:PL 1/1:0,25:25:63.21:860,63,0
1 40149870 rs113763288 C G 125.43 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.21;MQ0=0;QD=25.09;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HPCAL4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372844 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:158,12,0
1 40149875 rs113459798 C T 123.30 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.21;MQ0=0;QD=24.66;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HPCAL4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372844 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:156,12,0
1 40150156 rs9662128 G A 259.16 PASS AB=0.476;AC=1;AF=0.50;AN=2;BaseQRankSum=0.81;DB;DP=21;Dels=0.0;FS=7.701;HRun=0;HaplotypeScore=0.0;MQ=58.89;MQ0=0;MQRankSum=-0.599;QD=12.34;ReadPosRankSum=-0.246;SNPEFF_AMINO_ACID_CHANGE=S32;SNPEFF_CODON_CHANGE=agC/agT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_40150114_40150167;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HPCAL4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000450300 GT:AD:DP:GQ:PL 0/1:10,11:21:99:289,0,242
1 40150370 rs2746058 C T 252.28 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.53;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HPCAL4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372844 GT:AD:DP:GQ:PL 1/1:0,8:8:21.07:285,21,0
1 40207169 rs497333 T G 700.58 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.03;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPIE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000324379 GT:AD:DP:GQ:PL 1/1:0,20:20:57.18:734,57,0
1 40209408 rs491164 A G 381.91 PASS AB=0.316;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.044;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.78;MQ0=0;MQRankSum=0.921;QD=20.1;ReadPosRankSum=-0.395;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPIE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456578 GT:AD:DP:GQ:PL 0/1:6,13:19:99:412,0,187
1 40214525 rs7520588 T A 173.98 PASS AB=0.45;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.444;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.304;QD=8.7;ReadPosRankSum=-1.747;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPIE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470018 GT:AD:DP:GQ:PL 0/1:9,11:20:99:204,0,317
1 40214944 rs7518431 A G 92.35 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.82;MQ0=0;MQRankSum=0.72;QD=15.39;ReadPosRankSum=0.72;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPIE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470018 GT:AD:DP:GQ:PL 0/1:2,4:6:60.54:122,0,61
1 40219065 rs1046988 C T 237.12 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.914;DB;DP=17;Dels=0.0;FS=2.392;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.107;QD=13.95;ReadPosRankSum=1.588;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BMP8B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372827 GT:AD:DP:GQ:PL 0/1:8,9:17:99:267,0,249
1 40226046 rs12094291 G A 676.13 PASS AB=0.425;AC=1;AF=0.50;AN=2;BaseQRankSum=3.643;DB;DP=40;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.6584;MQ=58.25;MQ0=0;MQRankSum=1.941;QD=16.9;ReadPosRankSum=-1.015;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BMP8B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397360 GT:AD:DP:GQ:PL 0/1:17,23:40:99:706,0,360
1 40229297 rs71060328 A AC 511.36 PASS AC=2;AF=1.00;AN=2;DB;DP=13;FS=0.0;HRun=2;HaplotypeScore=74.6637;IndelType=I;MQ=42.23;MQ0=0;QD=31.96;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BMP8B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372827 GT:AD:DP:GQ:PL 1/1:0,16:13:39.13:553,39,0
1 40229319 rs493473 G A 577.88 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=40.06;MQ0=0;QD=28.89;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BMP8B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372827 GT:AD:DP:GQ:PL 1/1:0,20:20:51.13:611,51,0
1 40229368 rs2463260 A G 238.04 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=1.294;DB;DP=30;Dels=0.0;FS=2.607;HRun=1;HaplotypeScore=0.0;MQ=47.02;MQ0=1;MQRankSum=-4.583;QD=7.93;ReadPosRankSum=0.373;SNPEFF_AMINO_ACID_CHANGE=S347P;SNPEFF_CODON_CHANGE=Tct/Cct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_40229223_40229463;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BMP8B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000397360 GT:AD:DP:GQ:PL 0/1:16,14:30:99:268,0,531
1 40230531 rs115705483 C T 312.53 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=21.6;MQ0=5;QD=18.38;SNPEFF_AMINO_ACID_CHANGE=G275S;SNPEFF_CODON_CHANGE=Ggc/Agc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_40230521_40230680;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BMP8B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000397360 GT:AD:DP:GQ:PL 1/1:5,12:17:36.04:346,36,0
1 40253726 rs230328 C T 67.39 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=25.6;MQ0=1;QD=16.85;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BMP8B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372827 GT:AD:DP:GQ:PL 1/1:0,4:4:9.02:99,9,0
1 40253768 rs60164088 C CA 222.74 PASS AC=2;AF=1.00;AN=2;DB;DP=6;FS=0.0;HRun=0;HaplotypeScore=54.923;IndelType=I;MQ=32.38;MQ0=1;QD=27.84;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BMP8B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372827 GT:AD:DP:GQ:PL 1/1:0,8:6:18.06:265,18,0
1 40253786 rs230329 C T 204.51 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=39.48;MQ0=1;QD=20.45;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BMP8B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372827 GT:AD:DP:GQ:PL 1/1:0,10:10:21.05:237,21,0
1 40307719 rs230310 A G 174.89 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.98;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRIT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467774 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:208,15,0
1 40313107 rs79540048 G A 125.24 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.867;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.267;QD=8.95;ReadPosRankSum=0.133;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRIT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469476 GT:AD:DP:GQ:PL 0/1:9,5:14:99:155,0,333
1 40319587 rs2294814 A C 206.51 PASS AB=0.611;AC=1;AF=0.50;AN=2;BaseQRankSum=1.54;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=11.47;ReadPosRankSum=0.543;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRIT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000046894 GT:AD:DP:GQ:PL 0/1:11,7:18:99:236,0,402
1 40349131 rs3845570 G A 255.08 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=2.359;DB;DP=12;Dels=0.0;FS=2.632;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.536;QD=21.26;ReadPosRankSum=-0.6;SNPEFF_AMINO_ACID_CHANGE=P11;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_40348990_40349177;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRIT1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000046894 GT:AD:DP:GQ:PL 0/1:4,8:12:99:285,0,107
1 40363054 rs3134614 G C 1569.06 PASS AB=0.514;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.259;DB;DP=109;Dels=0.0;FS=3.582;HRun=0;HaplotypeScore=2.5558;MQ=59.58;MQ0=0;MQRankSum=1.468;QD=14.4;ReadPosRankSum=-0.39;SNPEFF_AMINO_ACID_CHANGE=T362S;SNPEFF_CODON_CHANGE=aCt/aGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_40362899_40363642;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYCL1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000372816 GT:AD:DP:GQ:PL 0/1:56,53:109:99:1599,0,1727
1 40524866 rs3122417 T C 330.99 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.78;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340450 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:364,27,0
1 40533266 rs11207440 T G 866.02 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=46.65;MQ0=0;QD=27.94;SNPEFF_AMINO_ACID_CHANGE=C206G;SNPEFF_CODON_CHANGE=Tgt/Ggt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_40533212_40533389;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAP1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000538246 GT:AD:DP:GQ:PL 1/1:0,31:31:75.19:899,75,0
1 40533287 rs6665926 T G 595.81 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=42.38;MQ0=0;QD=22.92;SNPEFF_AMINO_ACID_CHANGE=C213G;SNPEFF_CODON_CHANGE=Tgc/Ggc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_40533212_40533389;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAP1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000538246 GT:AD:DP:GQ:PL 1/1:0,26:26:54.15:629,54,0
1 40533315 rs6665933 T G 643.59 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=38.13;MQ0=0;QD=23.84;SNPEFF_AMINO_ACID_CHANGE=I222S;SNPEFF_CODON_CHANGE=aTt/aGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_40533212_40533389;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAP1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000538246 GT:AD:DP:GQ:PL 1/1:0,27:27:57.17:677,57,0
1 40533320 rs6665936 T G 556.21 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=37.03;MQ0=0;QD=21.39;SNPEFF_AMINO_ACID_CHANGE=C224G;SNPEFF_CODON_CHANGE=Tgc/Ggc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_40533212_40533389;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAP1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000538246 GT:AD:DP:GQ:PL 1/1:0,26:26:51.14:589,51,0
1 40533326 rs6665937 T G 602.83 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=39.45;MQ0=0;QD=22.33;SNPEFF_AMINO_ACID_CHANGE=Y100D;SNPEFF_CODON_CHANGE=Tat/Gat;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_40533212_40533389;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAP1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000372794 GT:AD:DP:GQ:PL 1/1:0,27:27:54.15:636,54,0
1 40533347 rs6665944 T G 632.71 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=47.12;MQ0=0;QD=28.76;SNPEFF_AMINO_ACID_CHANGE=S107A;SNPEFF_CODON_CHANGE=Tca/Gca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_40533212_40533389;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAP1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000372794 GT:AD:DP:GQ:PL 1/1:0,22:22:54.16:666,54,0
1 40535067 rs3131664 T C 53.22 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.61;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000414281 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
1 40536074 rs58190778 C CT 1397.75 PASS AC=2;AF=1.00;AN=2;DB;DP=30;FS=0.0;HRun=0;HaplotypeScore=57.4471;IndelType=I;MQ=61.07;MQ0=0;QD=46.59;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000414281 GT:AD:DP:GQ:PL 1/1:0,30:30:90.31:1440,90,0
1 40540102 rs111979219 G C 41.81 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=7;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=13.94;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340450 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:73,6,0
1 40545964 rs3122428 T G 2598.66 PASS AC=2;AF=1.00;AN=2;DB;DP=70;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.7883;MQ=60.0;MQ0=0;QD=37.12;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372779 GT:AD:DP:GQ:PL 1/1:0,70:70:99:2632,202,0
1 40555321 rs3131651 C T 314.99 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372779 GT:AD:DP:GQ:PL 1/1:0,9:9:27.06:348,27,0
1 40556922 rs3122439 T C 261.67 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.71;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372779 GT:AD:DP:GQ:PL 1/1:0,8:8:24.05:295,24,0
1 40557656 rs6672053 G A 995.52 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.33;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372779 GT:AD:DP:GQ:PL 1/1:0,29:29:75.25:1029,75,0
1 40558256 rs4481840 C G 542.20 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.15;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372779 GT:AD:DP:GQ:PL 1/1:0,15:15:42.12:575,42,0
1 40562993 rs6600313 T C 355.10 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=50.39;MQ0=0;QD=27.32;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372779 GT:AD:DP:GQ:PL 1/1:0,13:13:30.09:388,30,0
1 40737516 rs6677717 T G 915.50 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.71;MQ0=0;QD=28.61;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZMPSTE24;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472583 GT:AD:DP:GQ:PL 1/1:0,32:32:81.20:949,81,0
1 40840270 rs10645094 T TGC 401.58 PASS AB=0.898;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.192;DB;DP=44;FS=12.179;HRun=0;HaplotypeScore=348.7093;IndelType=I;MQ=50.46;MQ0=0;MQRankSum=-1.313;QD=9.13;ReadPosRankSum=-0.027;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMAP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372718 GT:AD:DP:GQ:PL 0/1:39,5:44:99:441,0,494
1 40840296 rs1965999 TGA T 545.80 PASS AB=0.703;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.54;DB;DP=52;FS=1.374;HRun=0;HaplotypeScore=387.2041;IndelType=D;MQ=54.28;MQ0=0;MQRankSum=2.342;QD=10.5;ReadPosRankSum=-0.481;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMAP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372718 GT:AD:DP:GQ:PL 0/1:30,22:52:99:585,0,487
1 40840296 rs4561032 T A 218.42 HaplotypeScoreFilter13 AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=2.401;DB;DP=50;Dels=0.02;FS=1.444;HRun=0;HaplotypeScore=49.6946;MQ=54.16;MQ0=0;MQRankSum=-1.782;QD=4.28;ReadPosRankSum=1.162;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMAP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372718 GT:AD:DP:GQ:PL 0/1:35,14:50:99:248,0,426
1 40840353 rs1003710 A G 975.07 PASS AB=0.468;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.7;DB;DP=79;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=56.05;MQ0=0;MQRankSum=1.904;QD=12.34;ReadPosRankSum=-0.934;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMAP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372718 GT:AD:DP:GQ:PL 0/1:37,42:79:99:1005,0,1096
1 40872195 rs209600 G A 128.71 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.18;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMAP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372708 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:161,12,0
1 40872356 rs2935889 G A 236.96 PASS AB=0.676;AC=1;AF=0.50;AN=2;BaseQRankSum=1.804;DB;DP=34;Dels=0.0;FS=10.142;HRun=1;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=0.037;QD=6.97;ReadPosRankSum=0.147;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMAP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372708 GT:AD:DP:GQ:PL 0/1:23,11:34:99:267,0,762
1 40872623 rs2982510 C T 148.19 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.465;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.84;MQ0=0;MQRankSum=0.465;QD=7.41;ReadPosRankSum=-0.634;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMAP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372708 GT:AD:DP:GQ:PL 0/1:12,8:20:99:178,0,419
1 40878508 rs209603 C T 50.52 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMAP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372708 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
1 40879808 rs209605 G T 1207.55 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.5;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMAP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372708 GT:AD:DP:GQ:PL 1/1:0,35:35:93.30:1241,93,0
1 40879952 rs2294752 T G 426.37 PASS AB=0.531;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.719;DB;DP=32;Dels=0.0;FS=6.405;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.453;QD=13.32;ReadPosRankSum=-0.415;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMAP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372708 GT:AD:DP:GQ:PL 0/1:17,15:32:99:456,0,553
1 40880804 rs2294755 C T 192.93 PASS AB=0.565;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.264;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.899;QD=8.39;ReadPosRankSum=-1.333;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMAP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372708 GT:AD:DP:GQ:PL 0/1:13,10:23:99:223,0,471
1 40881041 rs209606 C G 4719.19 PASS AC=2;AF=1.00;AN=2;DB;DP=145;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=2.6251;MQ=59.47;MQ0=0;QD=32.55;SNPEFF_AMINO_ACID_CHANGE=S143;SNPEFF_CODON_CHANGE=tcC/tcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_40880944_40881053;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMAP2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000539317 GT:AD:DP:GQ:PL 1/1:0,145:145:99:4719,376,0
1 40955156 rs10789144 A T 509.41 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.96;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF642;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372705 GT:AD:DP:GQ:PL 1/1:0,14:15:42.13:542,42,0
1 41094320 rs2076334 C G 144.30 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=0.387;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.387;QD=13.12;ReadPosRankSum=0.466;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RIMS3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372683 GT:AD:DP:GQ:PL 0/1:6,5:11:99:174,0,213
1 41095171 rs2076333 A G 112.44 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=1.881;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.39;MQ0=0;MQRankSum=-1.307;QD=12.49;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RIMS3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372683 GT:AD:DP:GQ:PL 0/1:4,5:9:99:142,0,129
1 41101572 rs2253835 A G 454.98 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.49;MQ0=0;QD=25.28;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RIMS3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372683 GT:AD:DP:GQ:PL 1/1:0,18:18:39.12:488,39,0
1 41107360 rs491619 T C 918.75 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.34;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RIMS3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372683 GT:AD:DP:GQ:PL 1/1:0,26:26:72.21:952,72,0
1 41107612 rs2076332 C G 400.71 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=57.87;MQ0=0;QD=36.43;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_1_41107381_41107628;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RIMS3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372683 GT:AD:DP:GQ:PL 1/1:0,11:11:33.11:434,33,0
1 41107699 rs1534955 C G 133.38 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.34;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RIMS3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372683 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:166,12,0
1 41204569 rs1057925 C T 1140.27 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.32;MQ0=0;QD=33.54;SNPEFF_AMINO_ACID_CHANGE=S18;SNPEFF_CODON_CHANGE=agC/agT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_41204510_41204620;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NFYC;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000308733 GT:AD:DP:GQ:PL 1/1:0,34:34:87.27:1173,87,0
1 41215075 rs3818758 T A 130.05 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=1.652;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.881;QD=14.45;ReadPosRankSum=-0.361;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NFYC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000534399 GT:AD:DP:GQ:PL 0/1:4,5:9:99:160,0,126
1 41228443 rs3767954 C G 872.01 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;QD=36.33;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NFYC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467203 GT:AD:DP:GQ:PL 1/1:0,24:24:69.22:905,69,0
1 41235177 rs10889608 G C 463.04 PASS AB=0.318;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.551;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.282;QD=21.05;ReadPosRankSum=-0.493;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NFYC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372669 GT:AD:DP:GQ:PL 0/1:7,15:22:99:493,0,221
1 41235946 rs3754176 G A 39.20 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=9.8;ReadPosRankSum=1.026;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NFYC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372669 GT:AD:DP:GQ:PL 0/1:2,2:4:69.20:69,0,71
1 41284366 rs2361660 G C 78.49 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.16;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNQ4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000347132 GT:AD:DP:GQ:PL 1/1:0,3:3:9.02:111,9,0
1 41284520 rs2361657 A G 35.63 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=29.0;MQ0=0;QD=17.81;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNQ4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000347132 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:67,6,0
1 41284527 rs2885330 T G 35.63 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=29.0;MQ0=0;QD=17.81;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNQ4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000347132 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:67,6,0
1 41285087 rs4660468 T C 1196.10 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.042;DB;DP=41;Dels=0.0;FS=4.449;HRun=1;HaplotypeScore=0.0;MQ=59.09;MQ0=0;MQRankSum=1.056;QD=29.17;ReadPosRankSum=-0.127;SNPEFF_AMINO_ACID_CHANGE=A259;SNPEFF_CODON_CHANGE=gcT/gcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_41285019_41285144;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNQ4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000347132 GT:AD:DP:GQ:PL 1/1:1,40:41:57.53:1229,58,0
1 41296828 rs34287852 T G 170.79 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.47;SNPEFF_AMINO_ACID_CHANGE=H401Q;SNPEFF_CODON_CHANGE=caT/caG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_41296756_41296976;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNQ4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000509682 GT:AD:DP:GQ:PL 1/1:0,6:6:18.03:204,18,0
1 41298546 rs11421426 G GC 285.82 PASS AC=2;AF=1.00;AN=2;DB;DP=8;FS=0.0;HRun=4;HaplotypeScore=15.4071;IndelType=I;MQ=60.0;MQ0=0;QD=35.73;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNQ4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000347132 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:328,24,0
1 41298652 rs913378 T C 1041.10 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.69;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNQ4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000347132 GT:AD:DP:GQ:PL 1/1:0,39:39:81.25:1074,81,0
1 41301019 rs729589 T C 37.29 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.64;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNQ4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000347132 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:69,6,0
1 41475085 rs12144160 A G 614.10 PASS AB=0.421;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.257;DB;DP=38;Dels=0.0;FS=3.704;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.222;QD=16.16;ReadPosRankSum=-0.251;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CTPS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372616 GT:AD:DP:GQ:PL 0/1:16,22:38:99:644,0,571
1 41481596 rs41308248 A G 337.25 PASS AB=0.267;AC=1;AF=0.50;AN=2;BaseQRankSum=0.979;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=1.371;QD=22.48;ReadPosRankSum=1.371;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CTPS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372616 GT:AD:DP:GQ:PL 0/1:4,11:15:83.98:367,0,84
1 41514150 rs2064740 C G 77.45 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.82;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCMH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326197 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:109,9,0
1 41540853 rs2011981 A T 2599.63 PASS AC=2;AF=1.00;AN=2;DB;DP=75;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=59.38;MQ0=0;QD=34.66;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCMH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326197 GT:AD:DP:GQ:PL 1/1:0,75:75:99:2633,202,0
1 41540861 rs2011982 T C 2310.44 PASS AC=2;AF=1.00;AN=2;DB;DP=76;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.8941;MQ=59.39;MQ0=0;QD=30.4;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCMH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326197 GT:AD:DP:GQ:PL 1/1:0,76:76:99:2343,187,0
1 41618442 rs213768 A T 564.01 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=60.0;MQ0=0;QD=37.6;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCMH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326197 GT:AD:DP:GQ:PL 1/1:0,15:15:45.13:597,45,0
1 41848296 rs4359027 G A 391.17 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.94;SNPEFF_AMINO_ACID_CHANGE=A475T;SNPEFF_CODON_CHANGE=Gcc/Acc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_41847288_41849262;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FOXO6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000372591 GT:AD:DP:GQ:PL 1/1:0,14:14:36.10:424,36,0
1 41976017 rs678110 C T 127.40 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.85;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HIVEP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000429157 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:160,12,0
1 41976328 rs9439043 T C 92.60 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=53.95;MQ0=0;QD=23.15;SNPEFF_AMINO_ACID_CHANGE=T2338A;SNPEFF_CODON_CHANGE=Acc/Gcc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_41972036_41976934;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HIVEP3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000372584 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:125,9,0
1 41978359 rs2984693 G T 90.38 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.13;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HIVEP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000247584 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:122,9,0
1 41978566 rs2991344 T G 86.55 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.85;SNPEFF_AMINO_ACID_CHANGE=D2109A;SNPEFF_CODON_CHANGE=gAc/gCc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_41978487_41979421;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HIVEP3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000247584 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:119,9,0
1 41978825 rs2483689 C G 1099.44 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.7887;MQ=58.0;MQ0=0;QD=31.41;SNPEFF_AMINO_ACID_CHANGE=A2023P;SNPEFF_CODON_CHANGE=Gct/Cct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_41978487_41979421;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HIVEP3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000247584 GT:AD:DP:GQ:PL 1/1:0,35:35:87.25:1132,87,0
1 41979156 rs615177 A G 192.41 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=1.589;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.05;MQ0=0;MQRankSum=0.572;QD=24.05;ReadPosRankSum=-0.572;SNPEFF_AMINO_ACID_CHANGE=A1912;SNPEFF_CODON_CHANGE=gcT/gcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_41978487_41979421;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HIVEP3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000247584 GT:AD:DP:GQ:PL 0/1:2,6:8:48.70:222,0,49
1 41983912 rs2810547 C A 533.93 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.45;MQ0=0;QD=35.6;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HIVEP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000247584 GT:AD:DP:GQ:PL 1/1:0,15:15:42.14:567,42,0
1 42041479 rs1815257 A C 114.81 PASS AB=0.647;AC=1;AF=0.50;AN=2;BaseQRankSum=0.452;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.251;QD=6.75;ReadPosRankSum=0.452;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HIVEP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000247584 GT:AD:DP:GQ:PL 0/1:11,6:17:99:145,0,330
1 42045302 rs2810564 G A 542.49 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.75;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HIVEP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000247584 GT:AD:DP:GQ:PL 1/1:0,14:14:42.14:575,42,0
1 42046812 rs2810565 C T 1066.91 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.16;MQ0=0;QD=32.33;SNPEFF_AMINO_ACID_CHANGE=Q1219;SNPEFF_CODON_CHANGE=caG/caA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_42045408_42050989;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HIVEP3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000247584 GT:AD:DP:GQ:PL 1/1:0,32:33:87.23:1100,87,0
1 42048745 rs2810566 T C 1142.38 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.36;MQ0=0;QD=31.73;SNPEFF_AMINO_ACID_CHANGE=H575R;SNPEFF_CODON_CHANGE=cAc/cGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_42045408_42050989;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HIVEP3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000247584 GT:AD:DP:GQ:PL 1/1:0,36:36:99:1175,99,0
1 42049032 rs2984694 G A 1292.88 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.39;MQ0=0;QD=34.02;SNPEFF_AMINO_ACID_CHANGE=S479;SNPEFF_CODON_CHANGE=agC/agT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_42045408_42050989;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HIVEP3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000247584 GT:AD:DP:GQ:PL 1/1:0,38:38:99:1326,105,0
1 42049140 rs2475842 C G 1140.53 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.28;MQ0=0;QD=35.64;SNPEFF_AMINO_ACID_CHANGE=L443;SNPEFF_CODON_CHANGE=ctG/ctC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_42045408_42050989;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HIVEP3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000247584 GT:AD:DP:GQ:PL 1/1:0,32:32:90.28:1174,90,0
1 42050366 rs2146315 C T 1560.27 PASS AB=0.519;AC=1;AF=0.50;AN=2;BaseQRankSum=1.989;DB;DP=109;Dels=0.0;FS=4.805;HRun=0;HaplotypeScore=4.8874;MQ=59.36;MQ0=0;MQRankSum=1.571;QD=14.31;ReadPosRankSum=-0.655;SNPEFF_AMINO_ACID_CHANGE=V35I;SNPEFF_CODON_CHANGE=Gtc/Atc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_42045408_42050989;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HIVEP3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000247584 GT:AD:DP:GQ:PL 0/1:56,52:109:99:1590,0,1629
1 42619152 rs2297567 C A 247.34 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.39;MQ0=0;QD=27.48;SNPEFF_AMINO_ACID_CHANGE=P11T;SNPEFF_CODON_CHANGE=Cca/Aca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_42619092_42619211;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GUCA2B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000372581 GT:AD:DP:GQ:PL 1/1:0,9:9:21.07:280,21,0
1 42629040 rs2232224 A G 520.06 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.45;MQ0=0;QD=34.67;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GUCA2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357001 GT:AD:DP:GQ:PL 1/1:0,15:15:42.11:553,42,0
1 42654364 rs554500 G A 1186.16 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.43;MQ0=0;QD=35.94;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FOXJ3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000445886 GT:AD:DP:GQ:PL 1/1:0,32:33:90.30:1219,90,0
1 42656868 rs1085252 C G 180.11 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.02;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FOXJ3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000422278 GT:AD:DP:GQ:PL 1/1:0,6:6:18.03:213,18,0
1 42660356 rs571329 G A 90.43 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.14;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FOXJ3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000422278 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:122,9,0
1 42730525 rs617824 T C 51.16 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.58;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FOXJ3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000454417 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
1 42898671 rs2494376 A G 480.05 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.25;MQ0=0;QD=25.27;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZMYND12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461083 GT:AD:DP:GQ:PL 1/1:1,18:19:45.12:513,45,0
1 42902142 rs143810024 T C 781.07 PASS AB=0.577;AC=1;AF=0.50;AN=2;BaseQRankSum=0.693;DB;DP=71;Dels=0.0;FS=0.913;HRun=0;HaplotypeScore=0.0;MQ=59.68;MQ0=0;MQRankSum=0.623;QD=11.0;ReadPosRankSum=-1.473;SNPEFF_AMINO_ACID_CHANGE=I113V;SNPEFF_CODON_CHANGE=Ata/Gta;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_42902092_42902214;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZMYND12;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000433602 GT:AD:DP:GQ:PL 0/1:41,30:71:99:811,0,1336
1 42922310 . G C 66.19 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.3;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=43.31;MQ0=0;MQRankSum=-1.754;QD=4.14;ReadPosRankSum=0.55;SNPEFF_AMINO_ACID_CHANGE=R25P;SNPEFF_CODON_CHANGE=cGc/cCc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_42922210_42922744;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPCS;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000372560 GT:AD:DP:GQ:PL 0/1:6,10:16:88.52:96,0,89
1 42966037 rs2992346 T C 2187.50 PASS AC=2;AF=1.00;AN=2;DB;DP=79;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=58.46;MQ0=0;QD=27.69;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CCDC30;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000428554 GT:AD:DP:GQ:PL 1/1:0,77:79:99:2221,183,0
1 43102792 rs16829820 G A 186.27 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=2.054;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=0.573;QD=20.7;ReadPosRankSum=1.203;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CCDC30;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340612 GT:AD:DP:GQ:PL 0/1:3,6:9:73.99:216,0,74
1 43102844 rs16829822 T C 233.45 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=1.111;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9998;MQ=60.0;MQ0=0;MQRankSum=-0.222;QD=12.97;ReadPosRankSum=-0.044;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CCDC30;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340612 GT:AD:DP:GQ:PL 0/1:10,8:18:99:263,0,356
1 43110276 rs7523056 G A 599.05 PASS AB=0.447;AC=1;AF=0.50;AN=2;BaseQRankSum=4.678;DB;DP=38;Dels=0.0;FS=1.762;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.96;QD=15.76;ReadPosRankSum=-0.503;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CCDC30;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340612 GT:AD:DP:GQ:PL 0/1:17,21:38:99:629,0,460
1 43119661 rs16829829 C A 319.79 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.448;DB;DP=32;Dels=0.0;FS=1.654;HRun=1;HaplotypeScore=1.7781;MQ=60.0;MQ0=0;MQRankSum=1.032;QD=9.99;ReadPosRankSum=1.382;SNPEFF_AMINO_ACID_CHANGE=H561N;SNPEFF_CODON_CHANGE=Cat/Aat;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_43119489_43119852;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CCDC30;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000390640 GT:AD:DP:GQ:PL 0/1:20,12:32:99:350,0,607
1 43124701 rs6600419 A G 63.54 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.406;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=10.59;ReadPosRankSum=0.406;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CCDC30;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340612 GT:AD:DP:GQ:PL 0/1:3,3:6:93.53:94,0,96
1 43124859 rs3738494 C T 689.64 PASS AB=0.46;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.557;DB;DP=50;Dels=0.0;FS=1.185;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.168;QD=13.79;ReadPosRankSum=0.156;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CCDC30;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342022 GT:AD:DP:GQ:PL 0/1:23,27:50:99:720,0,735
1 43200855 rs74885359 G A 210.62 PASS AB=0.222;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.762;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.39;MQ0=0;MQRankSum=0.762;QD=23.4;ReadPosRankSum=-0.067;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLDN19;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296387 GT:AD:DP:GQ:PL 0/1:2,7:9:48.58:241,0,49
1 43212291 rs13871 G A 50.63 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.32;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LEPRE1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460831 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
1 43212431 rs4660662 A G 284.74 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=6;HaplotypeScore=0.0;MQ=57.66;MQ0=0;QD=28.47;SNPEFF_AMINO_ACID_CHANGE=G581;SNPEFF_CODON_CHANGE=ggT/ggC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_43212046_43212523;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LEPRE1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000540027 GT:AD:DP:GQ:PL 1/1:0,10:10:27.06:318,27,0
1 43212926 rs67014447 G A 780.74 PASS AB=0.473;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.008;DB;DP=55;Dels=0.0;FS=7.421;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.093;QD=14.2;ReadPosRankSum=-0.598;SNPEFF_AMINO_ACID_CHANGE=A691V;SNPEFF_CODON_CHANGE=gCg/gTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_43212046_43213083;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LEPRE1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000236040 GT:AD:DP:GQ:PL 0/1:26,29:55:99:811,0,715
1 43213285 rs72661349 C T 846.56 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.763;DB;DP=52;Dels=0.0;FS=2.148;HRun=0;HaplotypeScore=0.0;MQ=59.19;MQ0=0;MQRankSum=0.217;QD=16.28;ReadPosRankSum=-0.48;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LEPRE1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460831 GT:AD:DP:GQ:PL 0/1:26,26:52:99:877,0,856
1 43221434 rs66491111 GCT G 129.93 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=1.307;DB;DP=10;FS=0.0;HRun=0;HaplotypeScore=45.0852;IndelType=D;MQ=62.13;MQ0=0;MQRankSum=0.361;QD=12.99;ReadPosRankSum=-0.361;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LEPRE1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372526 GT:AD:DP:GQ:PL 0/1:5,5:10:99:169,0,189
1 43223489 rs6700677 C T 2106.69 PASS AB=0.535;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.056;DB;DP=155;Dels=0.0;FS=0.624;HRun=0;HaplotypeScore=2.8132;MQ=59.88;MQ0=0;MQRankSum=-0.404;QD=13.59;ReadPosRankSum=0.07;SNPEFF_AMINO_ACID_CHANGE=G214R;SNPEFF_CODON_CHANGE=Gga/Aga;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_43223454_43223593;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LEPRE1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000540027 GT:AD:DP:GQ:PL 0/1:83,72:155:99:2137,0,2602
1 43227867 rs2760070 G A 199.99 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=3.016;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.55;MQ0=0;MQRankSum=0.66;QD=15.38;ReadPosRankSum=-0.935;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LEPRE1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236040 GT:AD:DP:GQ:PL 0/1:6,7:13:99:230,0,177
1 43228189 rs2816593 T A 856.91 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.6;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LEPRE1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236040 GT:AD:DP:GQ:PL 1/1:0,28:28:69.20:890,69,0
1 43232504 rs55716016 C A 210.34 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.562;DB;DP=15;Dels=0.0;FS=3.358;HRun=0;HaplotypeScore=0.0;MQ=58.75;MQ0=0;MQRankSum=-0.174;QD=14.02;ReadPosRankSum=0.752;SNPEFF_AMINO_ACID_CHANGE=A47S;SNPEFF_CODON_CHANGE=Gcg/Tcg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_43232178_43232683;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LEPRE1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000236040 GT:AD:DP:GQ:PL 0/1:8,7:15:99:240,0,254
1 43239395 rs2760075 G A 181.61 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.572;QD=22.7;ReadPosRankSum=1.067;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf50;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372525 GT:AD:DP:GQ:PL 0/1:2,6:8:59.22:212,0,59
1 43300663 rs112744081 T C 2266.88 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.4;DB;DP=66;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.894;MQ=60.0;MQ0=0;MQRankSum=-0.293;QD=34.35;ReadPosRankSum=1.466;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ERMAP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328249 GT:AD:DP:GQ:PL 1/1:1,65:66:99:2300,135,0
1 43300921 rs4660673 C G 533.40 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ERMAP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328249 GT:AD:DP:GQ:PL 1/1:0,17:17:42.14:566,42,0
1 43302971 rs1466548 C G 257.96 PASS AB=0.63;AC=1;AF=0.50;AN=2;BaseQRankSum=1.833;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.14;MQ0=0;MQRankSum=0.276;QD=9.55;ReadPosRankSum=1.23;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ERMAP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328249 GT:AD:DP:GQ:PL 0/1:17,10:27:99:288,0,548
1 43306128 rs11210729 G A 39.42 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=7.88;ReadPosRankSum=0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ERMAP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328249 GT:AD:DP:GQ:PL 0/1:3,2:5:69.41:69,0,113
1 43306217 rs1466549 G A 82.69 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=51.77;MQ0=0;QD=27.56;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ERMAP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328249 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:115,9,0
1 43395635 rs2229682 C T 453.87 PASS AB=0.484;AC=1;AF=0.50;AN=2;BaseQRankSum=2.248;DB;DP=31;Dels=0.0;FS=6.107;HRun=0;HaplotypeScore=0.9947;MQ=59.25;MQ0=0;MQRankSum=0.415;QD=14.64;ReadPosRankSum=-1.549;SNPEFF_AMINO_ACID_CHANGE=P101;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_43395544_43395706;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC2A1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000439722 GT:AD:DP:GQ:PL 0/1:15,16:31:99:484,0,420
1 43396414 rs11537641 G A 410.63 PASS AB=0.346;AC=1;AF=0.50;AN=2;BaseQRankSum=1.274;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9159;MQ=60.0;MQ0=0;MQRankSum=0.708;QD=15.79;ReadPosRankSum=-0.085;SNPEFF_AMINO_ACID_CHANGE=C133;SNPEFF_CODON_CHANGE=tgC/tgT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_43395990_43396537;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC2A1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000372500 GT:AD:DP:GQ:PL 0/1:9,17:26:99:441,0,239
1 43408966 rs1385129 G A 59.64 PASS AB=0.765;AC=1;AF=0.50;AN=2;BaseQRankSum=1.189;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.77;MQ0=0;MQRankSum=-1.642;QD=3.51;ReadPosRankSum=0.962;SNPEFF_AMINO_ACID_CHANGE=A15;SNPEFF_CODON_CHANGE=gcC/gcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_43408897_43408992;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC2A1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000372500 GT:AD:DP:GQ:PL 0/1:13,4:17:89.63:90,0,389
1 43418026 rs2297972 C T 112.58 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.148;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.47;QD=11.26;ReadPosRankSum=0.47;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC2A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372500 GT:AD:DP:GQ:PL 0/1:5,5:10:99:143,0,140
1 43613786 rs519666 G T 212.65 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.079;DB;DP=22;Dels=0.0;FS=3.245;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.113;QD=9.67;ReadPosRankSum=-0.416;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM183A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000335282 GT:AD:DP:GQ:PL 0/1:10,12:22:99:243,0,330
1 43613850 rs34514362 C CA 164.79 PASS AB=0.647;AC=1;AF=0.50;AN=2;BaseQRankSum=0.143;DB;DP=11;FS=0.0;HRun=5;HaplotypeScore=30.0848;IndelType=I;MQ=60.98;MQ0=0;MQRankSum=0.717;QD=14.98;ReadPosRankSum=-1.749;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM183A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000335282 GT:AD:DP:GQ:PL 0/1:5,6:11:99:204,0,128
1 43618596 rs12074551 G A 1373.13 PASS AB=0.485;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.833;DB;DP=98;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=-1.7;QD=14.01;ReadPosRankSum=-0.48;SNPEFF_AMINO_ACID_CHANGE=E45;SNPEFF_CODON_CHANGE=gaG/gaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_43618499_43618602;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM183A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000410025 GT:AD:DP:GQ:PL 0/1:47,50:98:99:1403,0,1437
1 43632536 rs7163 C T 987.66 PASS AB=0.486;AC=1;AF=0.50;AN=2;BaseQRankSum=0.259;DB;DP=72;Dels=0.0;FS=4.79;HRun=0;HaplotypeScore=0.9159;MQ=59.36;MQ0=0;MQRankSum=-0.443;QD=13.72;ReadPosRankSum=0.731;SNPEFF_AMINO_ACID_CHANGE=R223H;SNPEFF_CODON_CHANGE=cGc/cAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_43632497_43632590;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EBNA1BP2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000236051 GT:AD:DP:GQ:PL 0/1:35,37:72:99:1018,0,925
1 43632815 rs1749438 T G 1038.92 PASS AB=0.426;AC=1;AF=0.50;AN=2;BaseQRankSum=0.62;DB;DP=68;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.66;MQ0=0;MQRankSum=1.265;QD=15.28;ReadPosRankSum=-1.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EBNA1BP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461557 GT:AD:DP:GQ:PL 0/1:29,39:68:99:1069,0,840
1 43632816 rs1782374 T C 1001.67 PASS AB=0.426;AC=1;AF=0.50;AN=2;BaseQRankSum=1.892;DB;DP=69;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.33;MQ0=0;MQRankSum=-0.221;QD=14.52;ReadPosRankSum=-1.613;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EBNA1BP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461557 GT:AD:DP:GQ:PL 0/1:29,39:69:99:1032,0,844
1 43632997 rs1691302 A G 399.19 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=3.066;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9999;MQ=60.0;MQ0=0;MQRankSum=0.363;QD=18.14;ReadPosRankSum=0.89;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EBNA1BP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461557 GT:AD:DP:GQ:PL 0/1:10,12:22:99:429,0,317
1 43634867 rs11210797 C T 67.62 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.358;QD=13.52;ReadPosRankSum=1.231;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EBNA1BP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461557 GT:AD:DP:GQ:PL 0/1:2,3:5:64.98:98,0,65
1 43636484 rs1049276 C G 1441.55 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.77;DB;DP=98;Dels=0.0;FS=1.654;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.48;QD=14.71;ReadPosRankSum=0.956;SNPEFF_AMINO_ACID_CHANGE=T130;SNPEFF_CODON_CHANGE=acG/acC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_43636427_43636550;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EBNA1BP2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000236051 GT:AD:DP:GQ:PL 0/1:49,49:98:99:1472,0,1417
1 43636692 rs1010621 T C 235.56 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.599;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.6;QD=19.63;ReadPosRankSum=0.289;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EBNA1BP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461557 GT:AD:DP:GQ:PL 0/1:4,8:12:99:266,0,128
1 43636974 rs1010620 C T 108.71 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.72;QD=18.12;ReadPosRankSum=1.38;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EBNA1BP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461557 GT:AD:DP:GQ:PL 0/1:2,4:6:66.40:139,0,66
1 43637549 rs1691289 A G 362.74 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.171;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=58.55;MQ0=0;MQRankSum=1.007;QD=11.34;ReadPosRankSum=0.665;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EBNA1BP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236051 GT:AD:DP:GQ:PL 0/1:18,14:32:99:393,0,514
1 43638255 rs113994355 A G 69.28 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.09;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR65;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372492 GT:AD:DP:GQ:PL 1/1:0,3:3:9.01:101,9,0
1 43638334 rs2934883 A T 235.85 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.938;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.227;QD=14.74;ReadPosRankSum=-0.938;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR65;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372492 GT:AD:DP:GQ:PL 0/1:3,12:16:71.80:266,0,72
1 43638410 rs1782386 G C 662.43 PASS AB=0.389;AC=1;AF=0.50;AN=2;BaseQRankSum=1.397;DB;DP=36;Dels=0.0;FS=5.992;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.488;QD=18.4;ReadPosRankSum=-0.96;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EBNA1BP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461557 GT:AD:DP:GQ:PL 0/1:14,22:36:99:692,0,458
1 43638457 rs1782387 T A 480.79 PASS AB=0.447;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.407;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.536;QD=12.65;ReadPosRankSum=0.107;SNPEFF_AMINO_ACID_CHANGE=V11;SNPEFF_CODON_CHANGE=gtT/gtA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_43638406_43638581;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR65;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000372492 GT:AD:DP:GQ:PL 0/1:17,21:38:99:511,0,495
1 43649508 rs663824 A G 1552.84 PASS AB=0.441;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.314;DB;DP=102;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9578;MQ=59.55;MQ0=0;MQRankSum=0.344;QD=15.22;ReadPosRankSum=-1.045;SNPEFF_AMINO_ACID_CHANGE=N241D;SNPEFF_CODON_CHANGE=Aat/Gat;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_43649262_43649548;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR65;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000372492 GT:AD:DP:GQ:PL 0/1:45,57:102:99:1583,0,1547
1 43650741 rs598336 T C 536.78 PASS AB=0.385;AC=1;AF=0.50;AN=2;BaseQRankSum=2.925;DB;DP=26;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.028;QD=20.65;ReadPosRankSum=-0.395;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR65;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000525227 GT:AD:DP:GQ:PL 0/1:10,16:26:99:567,0,305
1 43652304 . AG A 207.84 PASS AB=0.9;AC=1;AF=0.50;AN=2;BaseQRankSum=0.848;DP=63;FS=9.547;HRun=1;HaplotypeScore=628.3107;IndelType=D;MQ=49.25;MQ0=0;MQRankSum=-4.458;QD=3.3;ReadPosRankSum=-1.595;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR65;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000525227 GT:AD:DP:GQ:PL 0/1:56,7:63:99:247,0,559
1 43652369 rs6413971 T C 3167.11 PASS AC=2;AF=1.00;AN=2;DB;DP=112;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=54.9;MQ0=0;QD=28.28;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR65;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000529956 GT:AD:DP:GQ:PL 1/1:9,103:112:99:3200,247,0
1 43663376 rs513009 A G 1727.15 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.21;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR65;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372492 GT:AD:DP:GQ:PL 1/1:0,52:52:99:1760,144,0
1 43664119 rs603560 A G 405.46 PASS AB=0.517;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.549;DB;DP=29;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.39;MQ0=0;MQRankSum=0.807;QD=13.98;ReadPosRankSum=0.982;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR65;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372492 GT:AD:DP:GQ:PL 0/1:15,14:29:99:435,0,494
1 43664218 rs603123 C T 948.59 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.022;DB;DP=55;Dels=0.0;FS=3.85;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.4;QD=17.25;ReadPosRankSum=1.366;SNPEFF_AMINO_ACID_CHANGE=H443;SNPEFF_CODON_CHANGE=caC/caT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_43664152_43664317;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR65;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000372492 GT:AD:DP:GQ:PL 0/1:22,33:55:99:979,0,628
1 43664319 rs112338081 TA T 304.72 PASS AB=0.679;AC=1;AF=0.50;AN=2;BaseQRankSum=3.728;DB;DP=38;FS=5.501;HRun=10;HaplotypeScore=127.1876;IndelType=D;MQ=57.77;MQ0=0;MQRankSum=0.054;QD=8.02;ReadPosRankSum=0.018;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR65;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372492 GT:AD:DP:GQ:PL 0/1:20,18:38:99:344,0,432
1 43665255 rs143705230 AAG A 160.26 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=0.488;DB;DP=18;FS=0.0;HRun=0;HaplotypeScore=62.0522;IndelType=D;MQ=59.32;MQ0=0;MQRankSum=-0.38;QD=8.9;ReadPosRankSum=0.054;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR65;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372492 GT:AD:DP:GQ:PL 0/1:12,6:18:99:199,0,465
1 43672636 rs11210812 T G 105.18 PASS AB=0.438;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.529;DB;DP=16;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=47.12;MQ0=0;MQRankSum=-1.588;QD=6.57;ReadPosRankSum=-1.059;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR65;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372492 GT:AD:DP:GQ:PL 0/1:7,9:16:99:135,0,201
1 43675467 rs2453412 G A 1419.43 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.62;SNPEFF_AMINO_ACID_CHANGE=S603;SNPEFF_CODON_CHANGE=tcG/tcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_43675414_43675587;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR65;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000372492 GT:AD:DP:GQ:PL 1/1:0,41:41:99:1452,108,0
1 43680839 rs111455700 T TG 485.37 PASS AB=0.707;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.6;DB;DP=41;FS=6.145;HRun=6;HaplotypeScore=233.1133;IndelType=I;MQ=59.7;MQ0=0;MQRankSum=0.099;QD=11.84;ReadPosRankSum=1.402;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR65;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000528956 GT:AD:DP:GQ:PL 0/1:24,17:41:99:524,0,556
1 43680855 rs4233492 G A 1825.24 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.4679;MQ=59.58;MQ0=0;QD=33.19;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR65;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000528956 GT:AD:DP:GQ:PL 1/1:0,55:55:99:1858,141,0
1 43681184 rs612626 C T 686.91 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.6553;MQ=60.0;MQ0=0;QD=36.15;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR65;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000528956 GT:AD:DP:GQ:PL 1/1:0,18:19:54.18:720,54,0
1 43688320 rs4660249 C T 107.26 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.81;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR65;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372492 GT:AD:DP:GQ:PL 1/1:0,4:4:12.02:140,12,0
1 43688743 rs11585059 G A 78.17 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.537;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=13.03;ReadPosRankSum=-0.406;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR65;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372492 GT:AD:DP:GQ:PL 0/1:3,3:6:99:108,0,105
1 43693018 rs11587212 G A 79.85 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.727;QD=19.96;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR65;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372492 GT:AD:DP:GQ:PL 0/1:1,3:4:29.72:110,0,30
1 43699813 rs3820588 A G 295.67 PASS AB=0.231;AC=1;AF=0.50;AN=2;BaseQRankSum=0.93;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.55;MQ0=0;MQRankSum=-0.592;QD=22.74;ReadPosRankSum=-0.085;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR65;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372492 GT:AD:DP:GQ:PL 0/1:3,10:13:68.13:326,0,68
1 43699935 rs2477561 C T 1460.89 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;QD=31.76;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR65;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372492 GT:AD:DP:GQ:PL 1/1:0,46:46:99:1494,111,0
1 43700140 rs2483688 A G 89.82 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.94;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR65;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372492 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:122,9,0
1 43738340 rs10890247 A C 36.72 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=6.12;ReadPosRankSum=0.358;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_1_43738249_43739673;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM125;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000432792 GT:AD:DP:GQ:PL 0/1:3,3:6:66.72:67,0,108
1 43771016 rs67382829 TA T 117.94 PASS AB=0.688;AC=1;AF=0.50;AN=2;BaseQRankSum=1.92;DB;DP=11;FS=0.0;HRun=3;HaplotypeScore=41.1029;IndelType=D;MQ=61.94;MQ0=0;MQRankSum=1.92;QD=10.72;ReadPosRankSum=-0.684;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TIE1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485125 GT:AD:DP:GQ:PL 0/1:6,5:11:99:157,0,106
1 43771090 rs3120044 G A 31.02 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=62.65;MQ0=0;MQRankSum=0.0;QD=7.76;ReadPosRankSum=1.026;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TIE1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485125 GT:AD:DP:GQ:PL 0/1:2,2:4:61.01:61,0,61
1 43773033 rs2275180 A G 266.68 PASS AB=0.435;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.341;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.341;QD=11.59;ReadPosRankSum=0.341;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TIE1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485125 GT:AD:DP:GQ:PL 0/1:10,13:23:99:297,0,333
1 43774495 rs2282225 G C 34.28 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.231;QD=6.86;ReadPosRankSum=0.358;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TIE1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485125 GT:AD:DP:GQ:PL 0/1:3,2:5:64.27:64,0,101
1 43774878 rs2282226 C T 200.34 PASS AB=0.385;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.313;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9973;MQ=58.2;MQ0=0;MQRankSum=0.212;QD=15.41;ReadPosRankSum=-0.817;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TIE1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000480269 GT:AD:DP:GQ:PL 0/1:5,8:13:99:230,0,172
1 43777852 rs1999595 C T 510.03 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TIE1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000441333 GT:AD:DP:GQ:PL 1/1:0,17:17:42.12:543,42,0
1 43779564 rs3120276 T C 405.19 PASS AB=0.59;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.37;DB;DP=39;Dels=0.0;FS=1.293;HRun=1;HaplotypeScore=1.5115;MQ=58.2;MQ0=0;MQRankSum=-0.429;QD=10.39;ReadPosRankSum=-0.547;SNPEFF_AMINO_ACID_CHANGE=A181;SNPEFF_CODON_CHANGE=gcT/gcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_43779449_43779639;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TIE1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000372475 GT:AD:DP:GQ:PL 0/1:23,16:39:99:435,0,632
1 43782846 rs1198982 G A 267.72 PASS AB=0.607;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.54;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.17;MQ0=0;MQRankSum=0.564;QD=9.56;ReadPosRankSum=-0.188;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TIE1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461061 GT:AD:DP:GQ:PL 0/1:17,11:28:99:298,0,511
1 43784956 rs1199039 A G 594.25 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=2.364;DB;DP=48;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.52;MQ0=0;MQRankSum=0.503;QD=12.38;ReadPosRankSum=0.503;SNPEFF_AMINO_ACID_CHANGE=L274;SNPEFF_CODON_CHANGE=ctA/ctG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_43784906_43785019;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TIE1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000536913 GT:AD:DP:GQ:PL 0/1:27,21:48:99:624,0,787
1 43812075 rs1760670 G A 423.60 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=1.466;DB;DP=26;Dels=0.0;FS=5.409;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.283;QD=16.29;ReadPosRankSum=1.98;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MPL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372468 GT:AD:DP:GQ:PL 0/1:12,14:26:99:454,0,336
1 43814864 rs839995 T C 305.86 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=2.899;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9993;MQ=60.0;MQ0=0;MQRankSum=-0.286;QD=14.56;ReadPosRankSum=-1.184;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MPL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372468 GT:AD:DP:GQ:PL 0/1:9,12:21:99:336,0,196
1 43825644 rs839763 T C 1758.92 PASS AB=0.548;AC=1;AF=0.50;AN=2;BaseQRankSum=2.458;DB;DP=146;Dels=0.0;FS=1.404;HRun=1;HaplotypeScore=0.9734;MQ=57.39;MQ0=0;MQRankSum=-0.722;QD=12.05;ReadPosRankSum=1.26;SNPEFF_AMINO_ACID_CHANGE=Y120;SNPEFF_CODON_CHANGE=taT/taC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_43825640_43825768;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC20;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000437896 GT:AD:DP:GQ:PL 0/1:80,66:146:99:1789,0,2289
1 43826312 rs710251 C A 415.55 PASS AB=0.535;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.861;DB;DP=43;Dels=0.0;FS=1.559;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.11;QD=9.66;ReadPosRankSum=-0.426;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ELOVL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372458 GT:AD:DP:GQ:PL 0/1:23,20:43:99:446,0,734
1 43850473 rs11172 A G 51.22 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.61;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MED8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460803 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
1 43855546 rs839752 A G 816.54 PASS AB=0.469;AC=1;AF=0.50;AN=2;BaseQRankSum=0.755;DB;DP=49;Dels=0.0;FS=9.938;HRun=0;HaplotypeScore=0.8321;MQ=59.05;MQ0=0;MQRankSum=0.486;QD=16.66;ReadPosRankSum=-0.052;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AL139289.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310739 GT:AD:DP:GQ:PL 0/1:23,26:49:99:847,0,641
1 43855578 rs839753 G C 406.32 PASS AB=0.517;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.371;DB;DP=30;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.8614;MQ=58.45;MQ0=0;MQRankSum=-0.327;QD=13.54;ReadPosRankSum=-0.415;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AL139289.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000406439 GT:AD:DP:GQ:PL 0/1:15,14:30:99:436,0,487
1 43869235 rs710249 G C 377.64 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=3.376;DB;DP=21;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.107;QD=17.98;ReadPosRankSum=-1.599;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AL139289.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310739 GT:AD:DP:GQ:PL 0/1:9,12:21:99:408,0,240
1 43881941 rs1999674 A G 100.50 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.937;QD=14.36;ReadPosRankSum=-0.937;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AL139289.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000406439 GT:AD:DP:GQ:PL 0/1:3,4:7:98.80:130,0,99
1 43886321 rs2782642 A G 251.60 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.193;DB;DP=15;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9159;MQ=60.0;MQ0=0;MQRankSum=1.109;QD=16.77;ReadPosRankSum=0.0;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SZT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372442 GT:AD:DP:GQ:PL 0/1:6,9:15:99:282,0,204
1 43886494 rs2782643 C T 1834.23 PASS AB=0.512;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.675;DB;DP=127;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=59.82;MQ0=0;MQRankSum=-0.625;QD=14.44;ReadPosRankSum=0.986;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SZT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470139 GT:AD:DP:GQ:PL 0/1:65,62:127:99:1864,0,2155
1 43887146 rs2782644 G A 141.81 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.676;DB;DP=10;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.336;QD=14.18;ReadPosRankSum=1.453;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SZT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470139 GT:AD:DP:GQ:PL 0/1:5,5:10:99:172,0,177
1 43888602 rs2782645 G A 303.89 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.91;DB;DP=30;Dels=0.0;FS=3.362;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.699;QD=10.13;ReadPosRankSum=0.614;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SZT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470139 GT:AD:DP:GQ:PL 0/1:18,12:30:99:334,0,598
1 43892189 rs2782646 G A 356.13 PASS AB=0.294;AC=1;AF=0.50;AN=2;BaseQRankSum=1.318;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.318;QD=20.95;ReadPosRankSum=0.158;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SZT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372442 GT:AD:DP:GQ:PL 0/1:5,12:17:99:386,0,120
1 43901011 rs2039531 A C 173.22 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=2.14;DB;DP=24;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.155;QD=7.22;ReadPosRankSum=0.651;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SZT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478140 GT:AD:DP:GQ:PL 0/1:14,10:24:99:203,0,360
1 43903589 rs2782648 G T 565.25 PASS AB=0.465;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.863;DB;DP=43;Dels=0.0;FS=6.404;HRun=0;HaplotypeScore=0.9987;MQ=60.0;MQ0=0;MQRankSum=-1.205;QD=13.15;ReadPosRankSum=-0.085;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SZT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372442 GT:AD:DP:GQ:PL 0/1:20,23:43:99:595,0,604
1 43903695 rs2842182 A G 76.11 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.988;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9998;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=12.69;ReadPosRankSum=0.406;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SZT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372442 GT:AD:DP:GQ:PL 0/1:3,3:6:99:106,0,100
1 43904316 rs2842184 A G 104.53 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.573;DB;DP=9;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.573;QD=11.61;ReadPosRankSum=0.248;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SZT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470897 GT:AD:DP:GQ:PL 0/1:3,6:9:96.56:135,0,97
1 43905286 rs72671125 C T 1306.34 PASS AB=0.488;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.018;DB;DP=80;Dels=0.0;FS=1.842;HRun=0;HaplotypeScore=2.9896;MQ=59.24;MQ0=0;MQRankSum=0.868;QD=16.33;ReadPosRankSum=0.152;SNPEFF_AMINO_ACID_CHANGE=C1397;SNPEFF_CODON_CHANGE=tgC/tgT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_43905276_43905440;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SZT2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000372442 GT:AD:DP:GQ:PL 0/1:39,41:80:99:1336,0,1188
1 43905819 rs2782649 T C 142.97 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.016;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.493;QD=10.21;ReadPosRankSum=-0.101;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SZT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470897 GT:AD:DP:GQ:PL 0/1:8,6:14:99:173,0,247
1 43906896 rs2027130 A G 3226.07 PASS AB=0.51;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.189;DB;DP=239;Dels=0.0;FS=0.992;HRun=0;HaplotypeScore=0.9578;MQ=59.9;MQ0=0;MQRankSum=-0.854;QD=13.5;ReadPosRankSum=-1.602;SNPEFF_AMINO_ACID_CHANGE=E1553;SNPEFF_CODON_CHANGE=gaA/gaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_43906885_43907051;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SZT2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000372442 GT:AD:DP:GQ:PL 0/1:122,117:239:99:3256,0,3528
1 43908787 rs41270357 A G 341.99 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.903;DB;DP=30;Dels=0.0;FS=5.946;HRun=2;HaplotypeScore=0.8941;MQ=59.23;MQ0=0;MQRankSum=0.747;QD=11.4;ReadPosRankSum=-0.041;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SZT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470897 GT:AD:DP:GQ:PL 0/1:15,15:30:99:372,0,495
1 43909265 rs2255632 T C 406.82 PASS AB=0.564;AC=1;AF=0.50;AN=2;BaseQRankSum=0.156;DB;DP=39;Dels=0.0;FS=3.166;HRun=0;HaplotypeScore=0.9894;MQ=59.41;MQ0=0;MQRankSum=-0.042;QD=10.43;ReadPosRankSum=-1.119;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SZT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471177 GT:AD:DP:GQ:PL 0/1:22,17:39:99:437,0,746
1 43912590 rs2782650 A G 85.56 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.851;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.268;QD=8.56;ReadPosRankSum=0.103;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HYI;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372425 GT:AD:DP:GQ:PL 0/1:5,5:10:99:116,0,163
1 43913762 rs138585463 C T 332.89 PASS AB=0.44;AC=1;AF=0.50;AN=2;BaseQRankSum=2.272;DB;DP=25;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9973;MQ=59.07;MQ0=0;MQRankSum=0.356;QD=13.32;ReadPosRankSum=-0.849;SNPEFF_AMINO_ACID_CHANGE=F2293;SNPEFF_CODON_CHANGE=ttC/ttT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_43913750_43914155;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SZT2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000372442 GT:AD:DP:GQ:PL 0/1:11,14:25:99:363,0,256
1 43916642 rs6954 T C 648.88 PASS AB=0.557;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.394;DB;DP=61;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9999;MQ=60.0;MQ0=0;MQRankSum=0.167;QD=10.64;ReadPosRankSum=-0.588;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HYI;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372425 GT:AD:DP:GQ:PL 0/1:34,27:61:99:679,0,1152
1 43917409 rs2251804 T C 453.51 PASS AB=0.436;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.968;DB;DP=40;Dels=0.0;FS=1.229;HRun=0;HaplotypeScore=2.7295;MQ=58.84;MQ0=0;MQRankSum=0.382;QD=11.34;ReadPosRankSum=-0.694;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HYI;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469587 GT:AD:DP:GQ:PL 0/1:17,22:40:99:483,0,512
1 43917637 rs2251802 G A 277.64 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.81;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.15;MQ0=0;MQRankSum=-0.035;QD=12.62;ReadPosRankSum=0.246;SNPEFF_AMINO_ACID_CHANGE=D110;SNPEFF_CODON_CHANGE=gaC/gaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_43917606_43917684;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HYI;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000372426 GT:AD:DP:GQ:PL 0/1:11,11:22:99:308,0,320
1 44019731 rs2842185 C T 37.96 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=7.59;ReadPosRankSum=0.358;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PTPRF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481019 GT:AD:DP:GQ:PL 0/1:3,2:5:67.95:68,0,85
1 44035093 rs2842186 A G 43.44 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=14.48;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PTPRF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359947 GT:AD:DP:GQ:PL 0/1:1,2:3:32.73:73,0,33
1 44035472 rs943513 G A 118.77 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.065;DB;DP=15;Dels=0.0;FS=2.363;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.323;QD=7.92;ReadPosRankSum=-0.065;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PTPRF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359947 GT:AD:DP:GQ:PL 0/1:8,7:15:99:149,0,260
1 44057950 rs573350 T C 67.37 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=1.92;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.63;MQ0=0;MQRankSum=0.684;QD=8.42;ReadPosRankSum=0.684;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PTPRF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467464 GT:AD:DP:GQ:PL 0/1:5,3:8:97.37:97,0,156
1 44070691 rs17371903 A G 861.15 PASS AB=0.404;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.206;DB;DP=47;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.2401;MQ=59.51;MQ0=0;MQRankSum=-0.639;QD=18.32;ReadPosRankSum=-0.184;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PTPRF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359947 GT:AD:DP:GQ:PL 0/1:19,28:47:99:891,0,619
1 44071221 rs631248 G A 224.35 PASS AB=0.222;AC=1;AF=0.50;AN=2;BaseQRankSum=1.666;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.762;QD=24.93;ReadPosRankSum=0.762;SNPEFF_AMINO_ACID_CHANGE=V1128;SNPEFF_CODON_CHANGE=gtG/gtA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_44071200_44071293;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PTPRF;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000372413 GT:AD:DP:GQ:PL 0/1:2,7:9:47.69:254,0,48
1 44071796 rs618369 G T 33.24 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=-0.72;QD=5.54;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PTPRF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359947 GT:AD:DP:GQ:PL 0/1:4,2:6:63.23:63,0,145
1 44071853 rs512579 T C 239.78 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.212;DB;DP=17;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.164;QD=14.1;ReadPosRankSum=-0.741;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PTPRF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359947 GT:AD:DP:GQ:PL 0/1:8,9:17:99:270,0,249
1 44072018 rs1065772 C T 1514.35 PASS AB=0.483;AC=1;AF=0.50;AN=2;BaseQRankSum=0.193;DB;DP=116;Dels=0.0;FS=0.743;HRun=3;HaplotypeScore=2.4521;MQ=59.3;MQ0=0;MQRankSum=-0.904;QD=13.05;ReadPosRankSum=-0.506;SNPEFF_AMINO_ACID_CHANGE=T1188;SNPEFF_CODON_CHANGE=acC/acT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_44071911_44072129;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PTPRF;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000372413 GT:AD:DP:GQ:PL 0/1:56,60:116:99:1544,0,1803
1 44072066 rs10890266 C T 1505.47 PASS AB=0.521;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.422;DB;DP=118;Dels=0.0;FS=0.692;HRun=0;HaplotypeScore=2.7599;MQ=59.61;MQ0=0;MQRankSum=1.178;QD=12.76;ReadPosRankSum=0.586;SNPEFF_AMINO_ACID_CHANGE=P1204;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_44071911_44072129;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PTPRF;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000372413 GT:AD:DP:GQ:PL 0/1:61,56:118:99:1535,0,1915
1 44072420 rs539096 A G 417.61 PASS AB=0.481;AC=1;AF=0.50;AN=2;BaseQRankSum=0.024;DB;DP=27;Dels=0.0;FS=11.146;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.364;QD=15.47;ReadPosRankSum=-0.218;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PTPRF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359947 GT:AD:DP:GQ:PL 0/1:13,14:27:99:448,0,374
1 44075227 rs517622 T C 376.32 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.88;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PTPRF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463041 GT:AD:DP:GQ:PL 1/1:0,14:14:36.10:409,36,0
1 44078384 rs499257 T C 427.36 PASS AB=0.649;AC=1;AF=0.50;AN=2;BaseQRankSum=2.502;DB;DP=57;Dels=0.0;FS=3.812;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.368;QD=7.5;ReadPosRankSum=-0.493;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PTPRF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359947 GT:AD:DP:GQ:PL 0/1:37,20:57:99:457,0,1254
1 44078602 rs3791151 C A 255.50 PASS AB=0.56;AC=1;AF=0.50;AN=2;BaseQRankSum=0.794;DB;DP=25;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.068;QD=10.22;ReadPosRankSum=0.192;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PTPRF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359947 GT:AD:DP:GQ:PL 0/1:14,11:25:99:285,0,481
1 44079411 rs603542 T C 543.36 PASS AB=0.452;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.771;DB;DP=42;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.89;MQ0=0;MQRankSum=-1.563;QD=12.94;ReadPosRankSum=0.041;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PTPRF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359947 GT:AD:DP:GQ:PL 0/1:19,23:42:99:573,0,586
1 44083015 rs653953 G A 145.57 PASS AB=0.684;AC=1;AF=0.50;AN=2;BaseQRankSum=2.149;DB;DP=19;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.096;QD=7.66;ReadPosRankSum=1.359;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PTPRF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359947 GT:AD:DP:GQ:PL 0/1:13,6:19:99:176,0,418
1 44083110 rs571862 C T 865.60 PASS AB=0.536;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.839;DB;DP=69;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.5784;MQ=59.33;MQ0=0;MQRankSum=0.245;QD=12.54;ReadPosRankSum=0.207;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PTPRF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359947 GT:AD:DP:GQ:PL 0/1:37,32:69:99:896,0,1126
1 44083507 rs641365 T C 180.09 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=1.377;DB;DP=18;Dels=0.0;FS=4.665;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.4;QD=10.0;ReadPosRankSum=0.222;SNPEFF_AMINO_ACID_CHANGE=G1423;SNPEFF_CODON_CHANGE=ggT/ggC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_44083407_44083582;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PTPRF;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000372413 GT:AD:DP:GQ:PL 0/1:10,8:18:99:210,0,317
1 44083519 rs641351 G A 170.30 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.482;DB;DP=16;Dels=0.0;FS=5.193;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.847;QD=10.64;ReadPosRankSum=0.318;SNPEFF_AMINO_ACID_CHANGE=R1427;SNPEFF_CODON_CHANGE=agG/agA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_44083407_44083582;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PTPRF;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000372413 GT:AD:DP:GQ:PL 0/1:9,7:16:99:200,0,329
1 44084739 rs1143701 C T 550.29 PASS AB=0.45;AC=1;AF=0.50;AN=2;BaseQRankSum=2.071;DB;DP=42;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=52.4;MQ0=0;MQRankSum=0.211;QD=13.1;ReadPosRankSum=0.127;SNPEFF_AMINO_ACID_CHANGE=R1495;SNPEFF_CODON_CHANGE=cgC/cgT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_44084719_44084873;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PTPRF;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000372413 GT:AD:DP:GQ:PL 0/1:18,22:42:99:580,0,488
1 44086080 rs568639 T C 604.41 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=1.225;DB;DP=39;Dels=0.0;FS=1.392;HRun=4;HaplotypeScore=0.0;MQ=59.41;MQ0=0;MQRankSum=1.225;QD=15.5;ReadPosRankSum=2.324;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PTPRF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359947 GT:AD:DP:GQ:PL 0/1:18,21:39:99:634,0,561
1 44086831 rs1143702 C T 132.64 PASS AB=0.688;AC=1;AF=0.50;AN=2;BaseQRankSum=1.02;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.68;QD=8.29;ReadPosRankSum=-0.113;SNPEFF_AMINO_ACID_CHANGE=Y1220;SNPEFF_CODON_CHANGE=taC/taT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_44086768_44086903;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PTPRF;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000422171 GT:AD:DP:GQ:PL 0/1:11,5:16:99:163,0,314
1 44087496 rs673485 C T 184.49 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.248;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.39;MQ0=0;MQRankSum=1.203;QD=20.5;ReadPosRankSum=0.248;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PTPRF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359947 GT:AD:DP:GQ:PL 0/1:3,6:9:88.22:214,0,88
1 44121557 rs2274465 C G 211.10 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.18;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KDM4A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372396 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:244,18,0
1 44133299 rs618678 C T 31.35 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.322;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.05;MQ0=0;MQRankSum=0.684;QD=3.92;ReadPosRankSum=0.684;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KDM4A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463151 GT:AD:DP:GQ:PL 0/1:5,3:8:61.34:61,0,167
1 44137257 rs586339 C A 663.89 PASS AB=0.549;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.467;DB;DP=51;Dels=0.0;FS=3.933;HRun=1;HaplotypeScore=0.0;MQ=59.55;MQ0=0;MQRankSum=0.975;QD=13.02;ReadPosRankSum=-0.899;SNPEFF_AMINO_ACID_CHANGE=A482E;SNPEFF_CODON_CHANGE=gCa/gAa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_44137176_44137546;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KDM4A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000372396 GT:AD:DP:GQ:PL 0/1:28,23:51:99:694,0,849
1 44258040 rs1502907 A G 39.51 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.026;QD=9.88;ReadPosRankSum=-1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ST3GAL3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000262915 GT:AD:DP:GQ:PL 0/1:2,2:4:69.25:70,0,69
1 44290530 rs37458 A G 413.28 PASS AB=0.519;AC=1;AF=0.50;AN=2;BaseQRankSum=2.693;DB;DP=27;Dels=0.0;FS=6.532;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.607;QD=15.31;ReadPosRankSum=-0.17;SNPEFF_AMINO_ACID_CHANGE=T113A;SNPEFF_CODON_CHANGE=Aca/Gca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_44290403_44290564;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ST3GAL3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000372368 GT:AD:DP:GQ:PL 0/1:14,13:27:99:443,0,437
1 44365529 rs783303 G A 171.31 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ST3GAL3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000262915 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:204,15,0
1 44386305 rs3120802 C T 389.02 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.92;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ST3GAL3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461375 GT:AD:DP:GQ:PL 1/1:0,13:13:36.08:422,36,0
1 44386615 rs3120803 A G 351.36 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.11;MQ0=0;QD=35.14;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ST3GAL3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461375 GT:AD:DP:GQ:PL 1/1:0,10:10:30.09:384,30,0
1 44395786 rs2108202 C T 2018.13 PASS AB=0.524;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.558;DB;DP=147;Dels=0.0;FS=1.368;HRun=2;HaplotypeScore=0.0;MQ=59.43;MQ0=0;MQRankSum=-0.21;QD=13.73;ReadPosRankSum=-0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ST3GAL3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000262915 GT:AD:DP:GQ:PL 0/1:77,70:147:99:2048,0,2461
1 44401384 rs2242637 A G 487.07 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.47;SNPEFF_AMINO_ACID_CHANGE=Q19R;SNPEFF_CODON_CHANGE=cAg/cGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_44401031_44401388;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARTN;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000372354 GT:AD:DP:GQ:PL 1/1:0,15:15:39.12:520,39,0
1 44415415 rs2240447 C T 358.17 PASS AB=0.581;AC=1;AF=0.50;AN=2;BaseQRankSum=1.701;DB;DP=31;Dels=0.0;FS=1.576;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.26;QD=11.55;ReadPosRankSum=0.5;SNPEFF_AMINO_ACID_CHANGE=D137;SNPEFF_CODON_CHANGE=gaC/gaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_44415089_44415825;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IPO13;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000372343 GT:AD:DP:GQ:PL 0/1:18,13:31:99:388,0,463
1 44426025 rs2301993 G A 775.81 PASS AB=0.569;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.571;DB;DP=72;Dels=0.0;FS=5.485;HRun=0;HaplotypeScore=2.7702;MQ=59.36;MQ0=0;MQRankSum=-0.785;QD=10.78;ReadPosRankSum=-2.081;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IPO13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000480902 GT:AD:DP:GQ:PL 0/1:41,31:72:99:806,0,1350
1 44426948 rs2906596 G A 3522.50 PASS AC=2;AF=1.00;AN=2;DB;DP=121;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.4007;MQ=59.04;MQ0=0;QD=29.11;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IPO13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000480902 GT:AD:DP:GQ:PL 1/1:2,119:121:99:3522,280,0
1 44432500 rs4660759 C G 96.51 PASS AB=0.783;AC=1;AF=0.50;AN=2;BaseQRankSum=1.379;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.112;QD=4.2;ReadPosRankSum=-0.037;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IPO13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372339 GT:AD:DP:GQ:PL 0/1:18,5:23:99:126,0,624
1 44442521 rs12410334 A C 239.41 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.087;DB;DP=24;Dels=0.0;FS=1.76;HRun=1;HaplotypeScore=1.8332;MQ=59.03;MQ0=0;MQRankSum=-0.202;QD=9.98;ReadPosRankSum=0.779;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP6V0B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461670 GT:AD:DP:GQ:PL 0/1:12,12:24:99:269,0,393
1 44442930 rs2428954 A G 397.93 PASS AB=0.559;AC=1;AF=0.50;AN=2;BaseQRankSum=1.694;DB;DP=34;Dels=0.0;FS=3.812;HRun=0;HaplotypeScore=1.8273;MQ=60.0;MQ0=0;MQRankSum=0.346;QD=11.7;ReadPosRankSum=0.127;SNPEFF_AMINO_ACID_CHANGE=Q211;SNPEFF_CODON_CHANGE=caA/caG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_44442698_44443885;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP6V0B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000532642 GT:AD:DP:GQ:PL 0/1:19,15:34:99:428,0,566
1 44443459 rs2428953 G A 111.83 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.368;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.922;QD=13.98;ReadPosRankSum=0.922;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP6V0B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461670 GT:AD:DP:GQ:PL 0/1:4,4:8:92.87:142,0,93
1 44450737 rs2231283 C G 457.15 PASS AB=0.438;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.247;DB;DP=32;Dels=0.0;FS=1.412;HRun=0;HaplotypeScore=0.9832;MQ=57.05;MQ0=0;MQRankSum=0.361;QD=14.29;ReadPosRankSum=-0.475;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=B4GALT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000497866 GT:AD:DP:GQ:PL 0/1:14,18:32:99:487,0,333
1 44457739 rs113122769 T TC 317.98 PASS AC=2;AF=1.00;AN=2;DB;DP=9;FS=0.0;HRun=2;HaplotypeScore=18.8145;IndelType=I;MQ=60.0;MQ0=0;QD=35.33;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=B4GALT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309519 GT:AD:DP:GQ:PL 1/1:1,8:9:24.08:360,24,0
1 44594966 rs2485653 G A 232.28 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=1.445;DB;DP=40;Dels=0.0;FS=12.212;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.076;QD=5.81;ReadPosRankSum=-0.593;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KLF17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372299 GT:AD:DP:GQ:PL 0/1:28,12:40:99:262,0,900
1 44595047 rs11210969 T A 1135.58 PASS AB=0.368;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.67;DB;DP=57;Dels=0.0;FS=8.007;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.05;QD=19.92;ReadPosRankSum=-0.389;SNPEFF_AMINO_ACID_CHANGE=I35N;SNPEFF_CODON_CHANGE=aTc/aAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_44595025_44595868;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KLF17;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000372299 GT:AD:DP:GQ:PL 0/1:21,36:57:99:1166,0,581
1 44595113 rs2429051 G C 1462.55 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.6647;MQ=60.0;MQ0=0;QD=34.01;SNPEFF_AMINO_ACID_CHANGE=S57T;SNPEFF_CODON_CHANGE=aGc/aCc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_44595025_44595868;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KLF17;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000372299 GT:AD:DP:GQ:PL 1/1:0,43:43:99:1496,114,0
1 44595410 rs2485652 A G 792.96 PASS AB=0.49;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.092;DB;DP=51;Dels=0.0;FS=1.137;HRun=0;HaplotypeScore=0.0;MQ=59.55;MQ0=0;MQRankSum=0.571;QD=15.55;ReadPosRankSum=-0.411;SNPEFF_AMINO_ACID_CHANGE=N156S;SNPEFF_CODON_CHANGE=aAt/aGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_44595025_44595868;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KLF17;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000372299 GT:AD:DP:GQ:PL 0/1:25,26:51:99:823,0,712
1 44595426 rs2429050 G A 867.50 PASS AB=0.404;AC=1;AF=0.50;AN=2;BaseQRankSum=3.218;DB;DP=52;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.366;QD=16.68;ReadPosRankSum=-2.644;SNPEFF_AMINO_ACID_CHANGE=S161;SNPEFF_CODON_CHANGE=tcG/tcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_44595025_44595868;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KLF17;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000372299 GT:AD:DP:GQ:PL 0/1:21,31:52:99:897,0,480
1 44679556 rs803369 A G 37.42 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.231;QD=7.48;ReadPosRankSum=0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DMAP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315913 GT:AD:DP:GQ:PL 0/1:3,2:5:67.41:67,0,106
1 44684995 rs2799480 T C 176.56 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=1.954;DB;DP=13;Dels=0.0;FS=2.276;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.369;QD=13.58;ReadPosRankSum=0.101;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DMAP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372290 GT:AD:DP:GQ:PL 0/1:7,6:13:99:207,0,218
1 44773839 rs2301767 C T 351.62 PASS AB=0.476;AC=1;AF=0.50;AN=2;BaseQRankSum=1.021;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9987;MQ=60.0;MQ0=0;MQRankSum=0.739;QD=16.74;ReadPosRankSum=1.725;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ERI3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000457571 GT:AD:DP:GQ:PL 0/1:10,11:21:99:382,0,329
1 44788398 rs161721 A T 957.31 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.3039;MQ=59.25;MQ0=0;QD=30.88;SNPEFF_AMINO_ACID_CHANGE=M48K;SNPEFF_CODON_CHANGE=aTg/aAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_44788397_44788715;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ERI3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000372259 GT:AD:DP:GQ:PL 1/1:0,29:31:72.24:990,72,0
1 44804480 rs11210984 G A 330.23 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=0.813;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.38;QD=20.64;ReadPosRankSum=0.054;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ERI3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372253 GT:AD:DP:GQ:PL 0/1:6,10:16:99:360,0,185
1 44878509 rs11210991 C G 395.99 PASS AB=0.519;AC=1;AF=0.50;AN=2;BaseQRankSum=0.218;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9992;MQ=59.14;MQ0=0;MQRankSum=-0.121;QD=14.67;ReadPosRankSum=1.723;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RNF220;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000487332 GT:AD:DP:GQ:PL 0/1:14,13:27:99:426,0,485
1 44878549 rs11210992 T C 331.48 PASS AB=0.421;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.528;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.78;MQ0=0;MQRankSum=2.518;QD=17.45;ReadPosRankSum=-0.124;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RNF220;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000487332 GT:AD:DP:GQ:PL 0/1:8,11:19:99:361,0,269
1 45080061 rs415707 C T 346.72 PASS AB=0.519;AC=1;AF=0.50;AN=2;BaseQRankSum=0.655;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.218;QD=12.84;ReadPosRankSum=1.237;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RNF220;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355387 GT:AD:DP:GQ:PL 0/1:14,13:27:99:377,0,377
1 45101478 rs2236219 T C 81.95 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.922;DB;DP=8;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=57.05;MQ0=0;MQRankSum=0.922;QD=10.24;ReadPosRankSum=0.421;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM53;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000495630 GT:AD:DP:GQ:PL 0/1:4,4:8:99:112,0,134
1 45120072 rs116364606 G A 39.84 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.72;QD=6.64;ReadPosRankSum=-0.72;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RNF220;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000335497 GT:AD:DP:GQ:PL 0/1:2,4:6:69.84:70,0,70
1 45121045 rs11211020 T C 108.64 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=49.84;MQ0=0;QD=27.16;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RNF220;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355387 GT:AD:DP:GQ:PL 1/1:0,4:4:12.03:141,12,0
1 45205323 rs11211030 A G 74.47 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.62;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF2C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372218 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:107,9,0
1 45205598 rs3820586 T C 3543.93 PASS AB=0.504;AC=1;AF=0.50;AN=2;BaseQRankSum=0.674;DB;DP=250;DS;Dels=0.0;FS=6.177;HRun=1;HaplotypeScore=4.7911;MQ=59.82;MQ0=0;MQRankSum=1.852;QD=14.18;ReadPosRankSum=1.912;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF2C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000493027 GT:AD:DP:GQ:PL 0/1:126,124:250:99:3544,0,3870
1 45215905 rs67742332 T G 32.99 PASS AB=0.786;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.868;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=58.33;MQ0=0;MQRankSum=0.467;QD=2.36;ReadPosRankSum=-1.557;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF2C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372217 GT:AD:DP:GQ:PL 0/1:11,3:14:62.98:63,0,365
1 45216038 rs12566610 C G 1386.98 PASS AB=0.546;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.017;DB;DP=130;Dels=0.0;FS=4.461;HRun=0;HaplotypeScore=0.8941;MQ=59.5;MQ0=0;MQRankSum=1.363;QD=10.67;ReadPosRankSum=-0.223;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF2C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372217 GT:AD:DP:GQ:PL 0/1:71,59:130:99:1417,0,2101
1 45218542 rs6688710 T C 47.20 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.6;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF2C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372217 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:78,6,0
1 45218895 rs3795713 A T 915.61 PASS AB=0.423;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.713;DB;DP=52;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.19;MQ0=0;MQRankSum=0.139;QD=17.61;ReadPosRankSum=0.343;SNPEFF_AMINO_ACID_CHANGE=R123;SNPEFF_CODON_CHANGE=cgA/cgT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_45218804_45218926;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF2C;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000372217 GT:AD:DP:GQ:PL 0/1:22,30:52:99:946,0,549
1 45221432 rs12732939 C T 64.99 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.231;QD=13.0;ReadPosRankSum=-1.231;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF2C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000480574 GT:AD:DP:GQ:PL 0/1:2,3:5:70.24:95,0,70
1 45224757 rs16832228 G A 215.62 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.8;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF2C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000452259 GT:AD:DP:GQ:PL 1/1:0,7:7:18.06:248,18,0
1 45224998 rs4342887 A C 251.83 PASS AB=0.64;AC=1;AF=0.50;AN=2;BaseQRankSum=0.311;DB;DP=25;Dels=0.0;FS=3.624;HRun=0;HaplotypeScore=1.57;MQ=59.07;MQ0=0;MQRankSum=0.934;QD=10.07;ReadPosRankSum=-1.444;SNPEFF_AMINO_ACID_CHANGE=I336L;SNPEFF_CODON_CHANGE=Atc/Ctc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_45224878_45225020;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF2C;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000372222 GT:AD:DP:GQ:PL 0/1:16,9:25:99:282,0,504
1 45226084 rs1140279 G A 455.39 PASS AB=0.464;AC=1;AF=0.50;AN=2;BaseQRankSum=0.171;DB;DP=28;Dels=0.0;FS=1.576;HRun=0;HaplotypeScore=0.9469;MQ=59.17;MQ0=0;MQRankSum=-1.732;QD=16.26;ReadPosRankSum=0.659;SNPEFF_AMINO_ACID_CHANGE=A387;SNPEFF_CODON_CHANGE=gcG/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_45225952_45226156;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF2C;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000372222 GT:AD:DP:GQ:PL 0/1:13,15:28:99:485,0,366
1 45241113 rs11211031 T C 1448.06 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9469;MQ=58.81;MQ0=0;QD=37.13;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RPS8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000497035 GT:AD:DP:GQ:PL 1/1:0,39:39:99:1481,114,0
1 45241374 rs3806398 G A 393.41 PASS AB=0.548;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.811;DB;DP=32;Dels=0.0;FS=3.142;HRun=0;HaplotypeScore=2.3391;MQ=58.55;MQ0=0;MQRankSum=-0.27;QD=12.29;ReadPosRankSum=-1.06;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RPS8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372209 GT:AD:DP:GQ:PL 0/1:17,14:32:99:423,0,544
1 45241857 rs116078889 C T 104.84 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.368;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=13.11;ReadPosRankSum=0.421;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RPS8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372209 GT:AD:DP:GQ:PL 0/1:4,4:8:99:135,0,141
1 45244051 rs3838955 T TG 2621.96 PASS AB=0.657;AC=1;AF=0.50;AN=2;BaseQRankSum=-7.978;DB;DP=132;FS=2.266;HRun=1;HaplotypeScore=317.5051;IndelType=I;MQ=60.4;MQ0=0;MQRankSum=-1.245;QD=19.86;ReadPosRankSum=-0.534;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RPS8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470475 GT:AD:DP:GQ:PL 0/1:63,69:132:99:2661,0,1904
1 45252015 rs41269079 T A 367.04 PASS AB=0.35;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.902;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.06;MQ0=0;MQRankSum=1.664;QD=18.35;ReadPosRankSum=0.079;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BEST4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372207 GT:AD:DP:GQ:PL 0/1:7,13:20:99:397,0,223
1 45266832 rs17881698 A G 272.48 PASS AB=0.478;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.124;DB;DP=23;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=51.61;MQ0=0;MQRankSum=0.95;QD=11.85;ReadPosRankSum=-0.619;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TCTEX1D4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000339355 GT:AD:DP:GQ:PL 0/1:11,12:23:99:302,0,270
1 45268356 rs11584440 C A 170.24 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=1.356;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.597;QD=10.64;ReadPosRankSum=1.247;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TCTEX1D4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000339355 GT:AD:DP:GQ:PL 0/1:10,6:16:99:200,0,360
1 45268382 rs12404160 G A 280.14 PASS AB=0.389;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.992;DB;DP=18;Dels=0.0;FS=3.854;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.634;QD=15.56;ReadPosRankSum=0.543;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TCTEX1D4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000339355 GT:AD:DP:GQ:PL 0/1:7,11:18:99:310,0,216
1 45270024 rs11211036 G C 579.52 PASS AB=0.569;AC=1;AF=0.50;AN=2;BaseQRankSum=0.399;DB;DP=65;Dels=0.0;FS=15.613;HRun=3;HaplotypeScore=1.6439;MQ=60.0;MQ0=0;MQRankSum=-0.051;QD=8.92;ReadPosRankSum=0.341;SNPEFF_AMINO_ACID_CHANGE=P427;SNPEFF_CODON_CHANGE=ccG/ccC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_45270011_45270173;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLK3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000543983 GT:AD:DP:GQ:PL 0/1:37,28:65:99:610,0,852
1 45271097 rs17883049 G A 1147.09 PASS AB=0.567;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.701;DB;DP=104;Dels=0.0;FS=1.968;HRun=0;HaplotypeScore=2.5309;MQ=59.78;MQ0=0;MQRankSum=-0.017;QD=11.03;ReadPosRankSum=-1.344;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLK3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461358 GT:AD:DP:GQ:PL 0/1:59,45:104:99:1177,0,1849
1 45271828 rs17885815 T C 56.73 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.754;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.55;QD=8.1;ReadPosRankSum=1.754;SNPEFF_AMINO_ACID_CHANGE=V171;SNPEFF_CODON_CHANGE=gtA/gtG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_45271585_45272347;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TCTEX1D4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000339355 GT:AD:DP:GQ:PL 0/1:4,3:7:86.73:87,0,107
1 45288527 rs3795719 C G 39.20 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.026;QD=9.8;ReadPosRankSum=1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTCH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372192 GT:AD:DP:GQ:PL 0/1:2,2:4:69.20:69,0,71
1 45291908 rs11211040 G A 274.06 PASS AB=0.45;AC=1;AF=0.50;AN=2;BaseQRankSum=0.222;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.84;MQ0=0;MQRankSum=0.133;QD=13.7;ReadPosRankSum=1.111;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTCH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372192 GT:AD:DP:GQ:PL 0/1:9,11:20:99:304,0,246
1 45292173 rs11573590 G A 256.35 PASS AB=0.474;AC=1;AF=0.50;AN=2;BaseQRankSum=1.021;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.204;QD=13.49;ReadPosRankSum=1.429;SNPEFF_AMINO_ACID_CHANGE=T988M;SNPEFF_CODON_CHANGE=aCg/aTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_45292160_45292440;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTCH2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000372192 GT:AD:DP:GQ:PL 0/1:9,10:19:99:286,0,258
1 45292866 rs2295996 G A 867.68 PASS AB=0.34;AC=1;AF=0.50;AN=2;BaseQRankSum=2.164;DB;DP=50;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.54;MQ0=0;MQRankSum=-0.352;QD=17.35;ReadPosRankSum=-0.842;SNPEFF_AMINO_ACID_CHANGE=D829;SNPEFF_CODON_CHANGE=gaC/gaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_45292839_45292981;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTCH2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000372192 GT:AD:DP:GQ:PL 0/1:17,33:50:99:898,0,418
1 45293518 rs7525308 A G 432.18 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.01;SNPEFF_AMINO_ACID_CHANGE=A685;SNPEFF_CODON_CHANGE=gcT/gcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_45293515_45293863;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTCH2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000372192 GT:AD:DP:GQ:PL 1/1:0,12:12:36.11:465,36,0
1 45293752 rs2295997 T C 621.95 PASS AB=0.474;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.12;DB;DP=38;Dels=0.0;FS=1.21;HRun=1;HaplotypeScore=0.0;MQ=59.51;MQ0=0;MQRankSum=0.979;QD=16.37;ReadPosRankSum=-0.307;SNPEFF_AMINO_ACID_CHANGE=E607;SNPEFF_CODON_CHANGE=gaA/gaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_45293515_45293863;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTCH2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000372192 GT:AD:DP:GQ:PL 0/1:18,20:38:99:652,0,521
1 45294156 rs2273940 T C 574.60 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.95;MQ0=0;QD=26.12;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTCH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372192 GT:AD:DP:GQ:PL 1/1:0,22:22:48.15:608,48,0
1 45296752 rs2295998 C T 65.92 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=2.166;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.296;QD=6.59;ReadPosRankSum=0.296;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTCH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372192 GT:AD:DP:GQ:PL 0/1:7,3:10:95.91:96,0,196
1 45297753 rs2295999 A G 693.69 PASS AB=0.58;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.222;DB;DP=69;Dels=0.0;FS=5.42;HRun=4;HaplotypeScore=0.9665;MQ=59.67;MQ0=0;MQRankSum=-0.565;QD=10.05;ReadPosRankSum=-0.188;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTCH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372192 GT:AD:DP:GQ:PL 0/1:40,29:69:99:724,0,1398
1 45307506 rs3795720 G A 2128.16 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.74;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTCH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372192 GT:AD:DP:GQ:PL 1/1:0,65:65:99:2161,168,0
1 45340282 rs9988451 C T 941.46 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EIF2B3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360403 GT:AD:DP:GQ:PL 1/1:0,27:27:78.25:974,78,0
1 45340703 rs263955 T C 85.68 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.56;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EIF2B3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360403 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:118,9,0
1 45345446 rs3738248 T A 215.26 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.792;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.33;MQ0=0;MQRankSum=0.201;QD=15.38;ReadPosRankSum=0.78;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EIF2B3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360403 GT:AD:DP:GQ:PL 0/1:7,7:14:99:245,0,232
1 45362992 rs263978 T C 467.41 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.16;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EIF2B3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360403 GT:AD:DP:GQ:PL 1/1:0,14:15:36.12:500,36,0
1 45443894 rs2487367 T C 112.86 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=0.811;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.66;QD=8.68;ReadPosRankSum=-1.791;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EIF2B3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360403 GT:AD:DP:GQ:PL 0/1:7,6:13:99:143,0,225
1 45444038 rs11556200 G A 1973.79 PASS AB=0.523;AC=1;AF=0.50;AN=2;BaseQRankSum=5.87;DB;DP=151;Dels=0.0;FS=3.207;HRun=0;HaplotypeScore=0.9998;MQ=59.72;MQ0=0;MQRankSum=-0.747;QD=13.07;ReadPosRankSum=-0.485;SNPEFF_AMINO_ACID_CHANGE=D81;SNPEFF_CODON_CHANGE=gaC/gaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_45443987_45444132;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EIF2B3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000360403 GT:AD:DP:GQ:PL 0/1:79,72:151:99:2004,0,2137
1 45446459 rs264022 T C 47.39 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.69;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EIF2B3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360403 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
1 45470130 rs7528534 T C 1127.20 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.32;MQ0=0;QD=33.15;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HECTD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484564 GT:AD:DP:GQ:PL 1/1:0,34:34:90.27:1160,90,0
1 45471362 rs12739545 G A 180.23 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=0.803;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.465;QD=9.01;ReadPosRankSum=1.31;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HECTD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484564 GT:AD:DP:GQ:PL 0/1:12,8:20:99:210,0,390
1 45472798 rs71896015 TTGTG T 780.23 PASS AC=2;AF=1.00;AN=2;DB;DP=31;FS=0.0;HRun=0;HaplotypeScore=236.3627;IndelType=D;MQ=50.43;MQ0=0;QD=25.17;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HECTD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372168 GT:AD:DP:GQ:PL 1/1:11,13:31:70.11:822,70,0
1 45473316 rs4660830 C T 32.43 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=1.495;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.922;QD=4.63;ReadPosRankSum=1.495;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HECTD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372168 GT:AD:DP:GQ:PL 0/1:5,2:7:62.42:62,0,146
1 45474008 rs7541207 T C 462.49 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.631;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9983;MQ=60.0;MQ0=0;MQRankSum=-0.988;QD=16.52;ReadPosRankSum=1.355;SNPEFF_AMINO_ACID_CHANGE=L18;SNPEFF_CODON_CHANGE=ctA/ctG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_45473912_45474223;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HECTD3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000372168 GT:AD:DP:GQ:PL 0/1:14,14:28:99:492,0,448
1 45474157 rs2298006 G A 592.78 PASS AB=0.476;AC=1;AF=0.50;AN=2;BaseQRankSum=1.775;DB;DP=42;Dels=0.0;FS=4.504;HRun=2;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=0.189;QD=14.11;ReadPosRankSum=-0.038;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HECTD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372172 GT:AD:DP:GQ:PL 0/1:20,22:42:99:623,0,622
1 45474750 rs2275599 A T 99 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=0.581;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.323;QD=7.07;ReadPosRankSum=-0.065;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HECTD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372172 GT:AD:DP:GQ:PL 0/1:8,6:14:99:129,0,289
1 45474755 rs2275598 C G 86.83 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.681;DB;DP=16;Dels=0.0;FS=3.01;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.247;QD=5.43;ReadPosRankSum=0.271;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HECTD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372172 GT:AD:DP:GQ:PL 0/1:10,6:16:99:117,0,340
1 45475566 rs6429552 A G 515.42 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8667;MQ=58.63;MQ0=0;QD=30.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HECTD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372172 GT:AD:DP:GQ:PL 1/1:0,17:17:42.13:548,42,0
1 45475906 rs182666370 G A 390.62 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.305;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.909;QD=10.02;ReadPosRankSum=0.39;SNPEFF_AMINO_ACID_CHANGE=A197V;SNPEFF_CODON_CHANGE=gCa/gTa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_45475873_45475965;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HECTD3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000372172 GT:AD:DP:GQ:PL 0/1:24,15:39:99:421,0,769
1 45476069 rs7533668 C A 266.79 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.68;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HECTD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372172 GT:AD:DP:GQ:PL 1/1:0,10:10:24.07:300,24,0
1 45476489 rs3806405 A G 162.53 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.276;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.027;QD=11.61;ReadPosRankSum=0.299;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HECTD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000372172 GT:AD:DP:GQ:PL 0/1:7,7:14:99:193,0,243
1 45476663 rs2298005 G A 258.85 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.353;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.71;MQ0=0;MQRankSum=1.854;QD=14.38;ReadPosRankSum=-0.883;SNPEFF_AMINO_ACID_CHANGE=L89;SNPEFF_CODON_CHANGE=ctC/ctT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_45476561_45477001;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HECTD3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000372172 GT:AD:DP:GQ:PL 0/1:9,9:18:99:289,0,245
1 45477763 rs151098284 G A 36.25 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.231;QD=7.25;ReadPosRankSum=1.231;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZSWIM5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359600 GT:AD:DP:GQ:PL 0/1:3,2:5:66.24:66,0,110
1 45479772 rs11211066 G T 344.60 PASS AB=0.588;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.997;DB;DP=34;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.32;MQ0=0;MQRankSum=0.402;QD=10.14;ReadPosRankSum=0.367;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UROD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460334 GT:AD:DP:GQ:PL 0/1:20,14:34:99:375,0,687
1 45479874 rs6698485 G T 431.28 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.94;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UROD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460334 GT:AD:DP:GQ:PL 1/1:0,12:12:36.09:464,36,0
1 45480733 rs6429553 C T 931.19 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.8;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UROD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000434478 GT:AD:DP:GQ:PL 1/1:0,24:24:72.21:964,72,0
1 45486272 rs998418 T C 2820.25 PASS AB=0.547;AC=1;AF=0.50;AN=2;BaseQRankSum=1.364;DB;DP=212;Dels=0.0;FS=3.338;HRun=0;HaplotypeScore=3.2126;MQ=59.89;MQ0=0;MQRankSum=-0.103;QD=13.3;ReadPosRankSum=1.122;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZSWIM5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359600 GT:AD:DP:GQ:PL 0/1:116,96:212:99:2850,0,3579
1 45499806 rs10749855 A G 200.60 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.43;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZSWIM5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359600 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:233,18,0
1 45500083 rs145298923 C T 1039.99 PASS AB=0.543;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.649;DB;DP=92;Dels=0.0;FS=5.458;HRun=0;HaplotypeScore=0.7887;MQ=59.8;MQ0=0;MQRankSum=-0.935;QD=11.3;ReadPosRankSum=-1.023;SNPEFF_AMINO_ACID_CHANGE=V784M;SNPEFF_CODON_CHANGE=Gtg/Atg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_45499984_45500141;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZSWIM5;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000359600 GT:AD:DP:GQ:PL 0/1:50,42:92:99:1070,0,1503
1 45500294 rs6671633 A G 73.58 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.937;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=9.2;ReadPosRankSum=0.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZSWIM5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359600 GT:AD:DP:GQ:PL 0/1:4,4:8:99:104,0,131
1 45504524 rs7543818 T A 39.73 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.026;QD=9.93;ReadPosRankSum=1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZSWIM5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359600 GT:AD:DP:GQ:PL 0/1:2,2:4:64.95:70,0,65
1 45504720 rs7551698 G C 471.51 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.381;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.88;MQ0=0;MQRankSum=-0.69;QD=12.09;ReadPosRankSum=-2.127;SNPEFF_AMINO_ACID_CHANGE=T594;SNPEFF_CODON_CHANGE=acC/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_45504608_45504745;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZSWIM5;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000359600 GT:AD:DP:GQ:PL 0/1:21,18:39:99:502,0,621
1 45524213 rs3738246 C T 599.93 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZSWIM5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359600 GT:AD:DP:GQ:PL 1/1:0,19:19:48.16:633,48,0
1 45796269 rs3219493 G C 211.36 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.23;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HPDL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334815 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:244,18,0
1 45798555 rs3219487 T C 1875.25 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.67;MQ0=0;QD=33.49;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HPDL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334815 GT:AD:DP:GQ:PL 1/1:0,56:56:99:1908,150,0
1 45799988 rs149074041 C T 810.91 PASS AB=0.65;AC=1;AF=0.50;AN=2;BaseQRankSum=0.938;DB;DP=80;Dels=0.0;FS=2.21;HRun=0;HaplotypeScore=0.9159;MQ=59.71;MQ0=0;MQRankSum=0.2;QD=10.14;ReadPosRankSum=2.127;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MUTYH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354383 GT:AD:DP:GQ:PL 0/1:52,28:80:99:841,0,1507
1 45805566 rs3219468 G C 180.10 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.01;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TESK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341771 GT:AD:DP:GQ:PL 1/1:0,10:10:15.05:213,15,0
1 45806053 rs3219466 G A 40.43 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.026;QD=10.11;ReadPosRankSum=-1.026;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TESK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341771 GT:AD:DP:GQ:PL 0/1:2,2:4:70.20:70,0,70
1 45962273 . C T 276.72 PASS AB=0.412;AC=1;AF=0.50;AN=2;BaseQRankSum=0.634;DP=17;Dels=0.0;FS=1.913;HRun=3;HaplotypeScore=0.0;MQ=58.63;MQ0=0;MQRankSum=1.317;QD=16.28;ReadPosRankSum=-1.122;SNPEFF_AMINO_ACID_CHANGE=L95;SNPEFF_CODON_CHANGE=ctG/ctA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_45962228_45962295;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CCDC163P;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000432082 GT:AD:DP:GQ:PL 0/1:7,10:17:99:307,0,162
1 45973928 rs2275276 G A 1116.55 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.576;DB;DP=72;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.367;MQ=60.0;MQ0=0;MQRankSum=0.463;QD=15.51;ReadPosRankSum=-2.164;SNPEFF_AMINO_ACID_CHANGE=V107;SNPEFF_CODON_CHANGE=gtG/gtA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_45973884_45974036;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MMACHC;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000401061 GT:AD:DP:GQ:PL 0/1:30,42:72:99:1147,0,833
1 45980862 rs2356561 T G 117.87 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.72;QD=19.65;ReadPosRankSum=0.72;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MMACHC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401061 GT:AD:DP:GQ:PL 0/1:2,4:6:63.82:148,0,64
1 45981258 rs7516006 A G 241.36 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.986;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9979;MQ=42.38;MQ0=0;MQRankSum=-2.003;QD=12.07;ReadPosRankSum=-1.323;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MMACHC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401061 GT:AD:DP:GQ:PL 0/1:10,10:20:99:271,0,309
1 45981512 rs2356559 T C 586.36 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.01;DB;DP=51;Dels=0.0;FS=2.524;HRun=0;HaplotypeScore=0.9999;MQ=57.23;MQ0=0;MQRankSum=1.897;QD=11.5;ReadPosRankSum=-0.047;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MMACHC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401061 GT:AD:DP:GQ:PL 0/1:24,27:51:99:616,0,710
1 46027355 rs512083 T C 162.26 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=1.134;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.38;QD=13.52;ReadPosRankSum=-0.529;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AKR1A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000351829 GT:AD:DP:GQ:PL 0/1:5,7:12:99:192,0,152
1 46035760 rs3014216 A T 35.41 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.72;QD=5.9;ReadPosRankSum=-0.72;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AKR1A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000351829 GT:AD:DP:GQ:PL 0/1:4,2:6:65.40:65,0,142
1 46057144 rs2991981 A G 83.87 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.96;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NASP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341288 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:116,9,0
1 46073489 rs2230657 G A 567.63 PASS AB=0.51;AC=1;AF=0.50;AN=2;BaseQRankSum=2.081;DB;DP=49;Dels=0.0;FS=1.331;HRun=1;HaplotypeScore=0.5784;MQ=58.58;MQ0=0;MQRankSum=-1.99;QD=11.58;ReadPosRankSum=0.106;SNPEFF_AMINO_ACID_CHANGE=P202;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_46072993_46074009;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NASP;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000341288 GT:AD:DP:GQ:PL 0/1:25,24:49:99:598,0,519
1 46078854 rs2230658 A G 840.32 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.01;SNPEFF_AMINO_ACID_CHANGE=S114;SNPEFF_CODON_CHANGE=tcA/tcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_46078841_46078920;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NASP;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000372052 GT:AD:DP:GQ:PL 1/1:0,28:28:69.20:873,69,0
1 46078884 rs2230659 C T 1090.35 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.17;SNPEFF_AMINO_ACID_CHANGE=T124;SNPEFF_CODON_CHANGE=acC/acT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_46078841_46078920;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NASP;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000372052 GT:AD:DP:GQ:PL 1/1:0,31:31:81.27:1123,81,0
1 46080947 rs1972410 A C 1724.67 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.54;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CCDC17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343901 GT:AD:DP:GQ:PL 1/1:0,53:53:99:1758,138,0
1 46081940 rs2356581 T A 299.43 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.22;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CCDC17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343901 GT:AD:DP:GQ:PL 1/1:0,11:11:27.07:332,27,0
1 46081960 rs2253862 C T 714.64 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.03;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CCDC17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343901 GT:AD:DP:GQ:PL 1/1:0,21:21:63.15:748,63,0
1 46082431 rs2991988 C A 634.44 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.84;MQ0=0;QD=31.72;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CCDC17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343901 GT:AD:DP:GQ:PL 1/1:0,20:20:54.16:667,54,0
1 46082965 rs2991989 C T 137.70 PASS AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9578;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=22.95;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CCDC17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343901 GT:AD:DP:GQ:PL 0/1:1,5:6:20.52:168,0,21
1 46085852 rs2275085 C T 248.13 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.45;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CCDC17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000445048 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:281,21,0
1 46085879 rs2275086 C G 452.68 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.82;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CCDC17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000445048 GT:AD:DP:GQ:PL 1/1:0,13:13:36.12:486,36,0
1 46086077 rs3014246 C T 1100.41 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.535;DB;DP=35;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.347;QD=31.44;ReadPosRankSum=1.535;SNPEFF_AMINO_ACID_CHANGE=S548N;SNPEFF_CODON_CHANGE=aGc/aAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_46085717_46086105;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CCDC17;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000343901 GT:AD:DP:GQ:PL 1/1:1,34:35:62.60:1133,63,0
1 46086329 rs11590549 C T 181.27 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.5616;MQ=60.0;MQ0=0;MQRankSum=-0.779;QD=15.11;ReadPosRankSum=-0.467;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CCDC17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464739 GT:AD:DP:GQ:PL 0/1:6,6:12:99:211,0,211
1 46086913 rs3014245 C T 591.61 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.98;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CCDC17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000525599 GT:AD:DP:GQ:PL 1/1:0,16:16:48.14:625,48,0
1 46087577 rs3014242 G A 468.79 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.48;SNPEFF_AMINO_ACID_CHANGE=P321L;SNPEFF_CODON_CHANGE=cCg/cTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_46087549_46087667;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CCDC17;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000343901 GT:AD:DP:GQ:PL 1/1:0,14:14:36.12:502,36,0
1 46087879 rs3014241 A G 477.47 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.09;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CCDC17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000525599 GT:AD:DP:GQ:PL 1/1:0,17:17:39.12:510,39,0
1 46089225 rs3014240 C G 152.04 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.41;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GPBP1L1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000290795 GT:AD:DP:GQ:PL 1/1:0,5:5:15.02:185,15,0
1 46095989 rs11585275 T C 80.65 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.231;QD=16.13;ReadPosRankSum=1.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GPBP1L1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000290795 GT:AD:DP:GQ:PL 0/1:2,3:5:64.91:111,0,65
1 46124663 rs6671802 A G 725.31 PASS AB=0.481;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.349;DB;DP=52;Dels=0.0;FS=4.746;HRun=0;HaplotypeScore=0.8667;MQ=59.56;MQ0=0;MQRankSum=-0.745;QD=13.95;ReadPosRankSum=0.594;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GPBP1L1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460859 GT:AD:DP:GQ:PL 0/1:25,27:52:99:755,0,689
1 46206399 rs28647556 G A 82.92 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.64;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IPP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359942 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:115,9,0
1 46290311 rs10561161 GTA G 738.86 PASS AB=0.682;AC=1;AF=0.50;AN=2;BaseQRankSum=4.212;DB;DP=44;FS=3.358;HRun=0;HaplotypeScore=146.7994;IndelType=D;MQ=59.15;MQ0=1;MQRankSum=0.578;QD=16.42;ReadPosRankSum=-0.69;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MAST2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361297 GT:AD:DP:GQ:PL 0/1:24,21:44:99:778,0,860
1 46347878 . AT A 116.51 PASS AC=2;AF=1.00;AN=2;DP=5;FS=0.0;HRun=1;HaplotypeScore=48.959;IndelType=D;MQ=63.94;MQ0=0;QD=23.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MAST2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361297 GT:AD:DP:GQ:PL 1/1:0,5:5:15.03:158,15,0
1 46347910 rs6665193 G A 34.41 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=1.38;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=62.84;MQ0=0;MQRankSum=0.72;QD=4.92;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MAST2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361297 GT:AD:DP:GQ:PL 0/1:4,2:7:64.40:64,0,135
1 46382852 rs6687301 T C 33.19 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.72;QD=5.53;ReadPosRankSum=-0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MAST2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361297 GT:AD:DP:GQ:PL 0/1:4,2:6:63.18:63,0,151
1 46424964 rs4460582 G A 511.34 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.33;MQ0=0;QD=36.52;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MAST2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361297 GT:AD:DP:GQ:PL 1/1:0,14:14:42.14:544,42,0
1 46472153 rs6429592 G A 293.35 PASS AB=0.421;AC=1;AF=0.50;AN=2;BaseQRankSum=0.619;DB;DP=19;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=0.784;QD=15.44;ReadPosRankSum=0.784;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MAST2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361297 GT:AD:DP:GQ:PL 0/1:8,11:19:99:323,0,281
1 46473902 rs3922886 A T 164.57 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.447;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=16.46;ReadPosRankSum=-0.633;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MAST2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000488619 GT:AD:DP:GQ:PL 0/1:4,6:10:99:195,0,132
1 46476587 rs11211247 T G 497.07 PASS AB=0.541;AC=1;AF=0.50;AN=2;BaseQRankSum=1.722;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.5;MQ0=0;MQRankSum=-0.686;QD=13.43;ReadPosRankSum=-0.472;SNPEFF_AMINO_ACID_CHANGE=D273E;SNPEFF_CODON_CHANGE=gaT/gaG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_46476402_46476611;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MAST2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000372008 GT:AD:DP:GQ:PL 0/1:20,17:37:99:527,0,638
1 46487560 rs946524 A G 1785.40 PASS AB=0.542;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.539;DB;DP=177;Dels=0.0;FS=0.623;HRun=0;HaplotypeScore=0.8321;MQ=59.61;MQ0=0;MQRankSum=1.063;QD=10.09;ReadPosRankSum=-0.709;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MAST2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361297 GT:AD:DP:GQ:PL 0/1:96,81:177:99:1815,0,2792
1 46491635 rs785478 C T 95.05 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=0.876;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.9;MQ0=0;MQRankSum=0.361;QD=10.56;ReadPosRankSum=0.361;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MAST2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467367 GT:AD:DP:GQ:PL 0/1:4,5:9:99:125,0,126
1 46495024 rs3795318 G A 62.33 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=0.322;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.322;QD=7.79;ReadPosRankSum=0.322;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MAST2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467367 GT:AD:DP:GQ:PL 0/1:5,3:8:92.33:92,0,135
1 46496709 rs925524 A G 389.90 PASS AB=0.464;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.29;DB;DP=28;Dels=0.0;FS=3.372;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.737;QD=13.93;ReadPosRankSum=-0.23;SNPEFF_EFFECT=SPLICE_SITE_DONOR;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MAST2;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000498364 GT:AD:DP:GQ:PL 0/1:13,15:28:99:420,0,402
1 46498375 rs1622208 A G 260.03 PASS AB=0.593;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.222;DB;DP=27;Dels=0.0;FS=5.787;HRun=1;HaplotypeScore=0.0;MQ=59.14;MQ0=0;MQRankSum=-0.469;QD=9.63;ReadPosRankSum=0.469;SNPEFF_AMINO_ACID_CHANGE=V1081;SNPEFF_CODON_CHANGE=gtA/gtG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_46498268_46498390;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MAST2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000372009 GT:AD:DP:GQ:PL 0/1:16,11:27:99:290,0,558
1 46500613 rs17855317 T C 980.02 PASS AB=0.53;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.441;DB;DP=83;Dels=0.0;FS=2.066;HRun=1;HaplotypeScore=0.9789;MQ=58.88;MQ0=0;MQRankSum=-0.662;QD=11.81;ReadPosRankSum=-1.766;SNPEFF_AMINO_ACID_CHANGE=T1234;SNPEFF_CODON_CHANGE=acT/acC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_46500501_46501738;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MAST2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000372009 GT:AD:DP:GQ:PL 0/1:44,39:83:99:1010,0,1346
1 46511487 rs2297883 G C 360.15 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=3.923;DB;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.95;MQ0=0;MQRankSum=-0.231;QD=16.37;ReadPosRankSum=0.692;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIK3R3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000262741 GT:AD:DP:GQ:PL 0/1:10,12:22:99:390,0,278
1 46521517 rs785468 G A 1377.26 PASS AB=0.505;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.978;DB;DP=99;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.5317;MQ=59.77;MQ0=0;MQRankSum=1.039;QD=13.91;ReadPosRankSum=-0.815;SNPEFF_AMINO_ACID_CHANGE=S297;SNPEFF_CODON_CHANGE=agC/agT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_46521467_46521643;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIK3R3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000262741 GT:AD:DP:GQ:PL 0/1:50,49:99:99:1407,0,1405
1 46521559 rs785467 A T 1273.56 PASS AB=0.437;AC=1;AF=0.50;AN=2;BaseQRankSum=1.478;DB;DP=87;Dels=0.0;FS=0.849;HRun=2;HaplotypeScore=0.8321;MQ=59.74;MQ0=0;MQRankSum=0.441;QD=14.64;ReadPosRankSum=1.207;SNPEFF_AMINO_ACID_CHANGE=N283K;SNPEFF_CODON_CHANGE=aaT/aaA;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_46521467_46521643;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIK3R3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000262741 GT:AD:DP:GQ:PL 0/1:38,49:87:99:1304,0,1102
1 46532657 . G T 1168.81 PASS AB=0.547;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.754;DP=86;Dels=0.0;FS=7.314;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.61;QD=13.59;ReadPosRankSum=-0.639;SNPEFF_AMINO_ACID_CHANGE=H105N;SNPEFF_CODON_CHANGE=Cac/Aac;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_46532583_46532763;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIK3R3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000340332 GT:AD:DP:GQ:PL 0/1:47,39:86:99:1199,0,1450
1 46597288 . A C 156.04 MQFilter40 AB=0.357;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.612;DP=28;Dels=0.0;FS=5.315;HRun=5;HaplotypeScore=12.885;MQ=39.12;MQ0=0;MQRankSum=-2.476;QD=5.57;ReadPosRankSum=1.777;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIK3R3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000262741 GT:AD:DP:GQ:PL 0/1:10,18:28:99:186,0,148
1 46597294 . A C 189.01 HaplotypeScoreFilter13 AB=0.276;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.608;DP=29;Dels=0.0;FS=4.337;HRun=5;HaplotypeScore=18.0431;MQ=41.2;MQ0=0;MQRankSum=-3.525;QD=6.52;ReadPosRankSum=2.679;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIK3R3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000262741 GT:AD:DP:GQ:PL 0/1:8,21:29:99:219,0,220
1 46650191 rs67969395 C CG 576.97 PASS AB=0.716;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.028;DB;DP=68;FS=1.441;HRun=9;HaplotypeScore=205.5802;IndelType=I;MQ=58.61;MQ0=0;MQRankSum=-0.108;QD=8.48;ReadPosRankSum=1.316;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POMGNT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371984 GT:AD:DP:GQ:PL 0/1:41,26:68:99:616,0,634
1 46655158 rs6659553 T C 450.40 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.15;SNPEFF_AMINO_ACID_CHANGE=M601V;SNPEFF_CODON_CHANGE=Atg/Gtg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_46655130_46655239;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POMGNT1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000535522 GT:AD:DP:GQ:PL 1/1:0,16:16:36.10:483,36,0
1 46655873 rs12116820 C T 130.60 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=0.922;DB;DP=7;Dels=0.0;FS=5.441;HRun=0;HaplotypeScore=0.0;MQ=48.63;MQ0=0;MQRankSum=-0.922;QD=18.66;ReadPosRankSum=0.922;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POMGNT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463030 GT:AD:DP:GQ:PL 0/1:2,5:7:53.61:161,0,54
1 46657651 rs7521880 T C 44.44 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=14.81;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POMGNT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477114 GT:AD:DP:GQ:PL 0/1:1,2:3:32.73:74,0,33
1 46658328 rs2292484 A G 49.76 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.398;DB;DP=11;Dels=0.0;FS=3.233;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.278;QD=4.52;ReadPosRankSum=-0.678;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POMGNT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477114 GT:AD:DP:GQ:PL 0/1:7,4:11:79.75:80,0,249
1 46658343 rs2292485 G A 180.21 PASS AB=0.619;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.76;DB;DP=21;Dels=0.0;FS=5.898;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.616;QD=8.58;ReadPosRankSum=0.326;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POMGNT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477114 GT:AD:DP:GQ:PL 0/1:13,8:21:99:210,0,451
1 46659104 rs7527668 T C 33.02 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=1.92;DB;DP=9;Dels=0.0;FS=4.26;HRun=3;HaplotypeScore=0.0;MQ=57.9;MQ0=0;MQRankSum=-0.684;QD=3.67;ReadPosRankSum=-0.322;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POMGNT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000489985 GT:AD:DP:GQ:PL 0/1:5,4:9:63.02:63,0,172
1 46659363 rs7527935 T C 253.46 PASS AB=0.438;AC=1;AF=0.50;AN=2;BaseQRankSum=0.212;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.106;QD=15.84;ReadPosRankSum=0.318;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POMGNT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000489985 GT:AD:DP:GQ:PL 0/1:7,9:16:99:283,0,244
1 46660295 rs2292487 T C 905.15 PASS AB=0.477;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.007;DB;DP=65;Dels=0.0;FS=0.985;HRun=0;HaplotypeScore=0.0;MQ=59.65;MQ0=0;MQRankSum=-0.427;QD=13.93;ReadPosRankSum=0.177;SNPEFF_AMINO_ACID_CHANGE=N188S;SNPEFF_CODON_CHANGE=aAt/aGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_46660225_46660323;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POMGNT1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000396420 GT:AD:DP:GQ:PL 0/1:31,34:65:99:935,0,967
1 46806429 rs41293275 A T 86.68 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.89;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NSUN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474062 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:119,9,0
1 46806480 rs17361749 C T 39.56 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=13.19;ReadPosRankSum=0.736;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NSUN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307089 GT:AD:DP:GQ:PL 0/1:1,2:3:30.98:70,0,31
1 46806550 rs41293277 C T 75.73 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.731;QD=15.15;ReadPosRankSum=-0.731;SNPEFF_AMINO_ACID_CHANGE=L18F;SNPEFF_CODON_CHANGE=Ctc/Ttc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_46805849_46806591;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NSUN4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000474844 GT:AD:DP:GQ:PL 0/1:1,4:5:27.28:106,0,27
1 46807416 rs68083747 T G 300.20 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=1.879;DB;DP=22;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.8321;MQ=58.95;MQ0=0;MQRankSum=-0.495;QD=13.65;ReadPosRankSum=1.418;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NSUN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472157 GT:AD:DP:GQ:PL 0/1:10,12:22:99:330,0,289
1 46807445 rs66972124 A G 351.94 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.415;DB;DP=28;Dels=0.0;FS=6.368;HRun=1;HaplotypeScore=0.0;MQ=59.17;MQ0=0;MQRankSum=1.049;QD=12.57;ReadPosRankSum=-1.293;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NSUN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472157 GT:AD:DP:GQ:PL 0/1:12,16:28:99:382,0,418
1 46807597 rs10489770 G A 1187.83 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.989;DB;DP=72;Dels=0.0;FS=6.68;HRun=0;HaplotypeScore=0.0;MQ=59.1;MQ0=0;MQRankSum=1.286;QD=16.5;ReadPosRankSum=0.55;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NSUN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472157 GT:AD:DP:GQ:PL 0/1:32,40:72:99:1218,0,1032
1 46807697 rs17357621 C T 1066.49 PASS AB=0.517;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.935;DB;DP=87;Dels=0.0;FS=1.812;HRun=0;HaplotypeScore=0.9665;MQ=59.74;MQ0=0;MQRankSum=0.26;QD=12.26;ReadPosRankSum=2.176;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NSUN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472157 GT:AD:DP:GQ:PL 0/1:45,42:87:99:1096,0,1292
1 46808180 . C T 734.27 PASS AB=0.442;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.798;DP=44;Dels=0.0;FS=4.325;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.088;QD=16.69;ReadPosRankSum=-1.211;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NSUN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472157 GT:AD:DP:GQ:PL 0/1:19,24:44:99:764,0,661
1 46808224 rs56909107 A C 674.12 PASS AB=0.477;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.085;DB;DP=44;Dels=0.0;FS=2.623;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.134;QD=15.32;ReadPosRankSum=-0.522;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NSUN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472157 GT:AD:DP:GQ:PL 0/1:21,23:44:99:704,0,624
1 46808426 rs41293285 C T 682.21 PASS AB=0.273;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.788;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.516;QD=20.67;ReadPosRankSum=-0.303;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NSUN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472157 GT:AD:DP:GQ:PL 0/1:9,24:33:99:712,0,217
1 46808462 rs17357628 A G 668.31 PASS AB=0.408;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.381;DB;DP=49;Dels=0.0;FS=4.667;HRun=0;HaplotypeScore=0.9469;MQ=59.53;MQ0=0;MQRankSum=0.164;QD=13.64;ReadPosRankSum=0.777;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NSUN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472157 GT:AD:DP:GQ:PL 0/1:20,29:49:99:698,0,529
1 46808668 rs17357635 G A 921.07 PASS AB=0.56;AC=1;AF=0.50;AN=2;BaseQRankSum=0.217;DB;DP=75;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.9946;MQ=59.5;MQ0=0;MQRankSum=-1.261;QD=12.28;ReadPosRankSum=-0.37;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NSUN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472157 GT:AD:DP:GQ:PL 0/1:42,33:75:99:951,0,1307
1 46808695 rs68191463 T C 886.28 PASS AB=0.537;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.347;DB;DP=67;Dels=0.0;FS=3.391;HRun=0;HaplotypeScore=0.0;MQ=59.72;MQ0=0;MQRankSum=0.912;QD=13.23;ReadPosRankSum=0.514;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NSUN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472157 GT:AD:DP:GQ:PL 0/1:36,31:67:99:916,0,1170
1 46808852 rs41293287 C T 433.76 PASS AB=0.472;AC=1;AF=0.50;AN=2;BaseQRankSum=1.828;DB;DP=36;Dels=0.0;FS=5.391;HRun=2;HaplotypeScore=1.9658;MQ=58.83;MQ0=0;MQRankSum=0.773;QD=12.05;ReadPosRankSum=0.019;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NSUN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472157 GT:AD:DP:GQ:PL 0/1:17,19:36:99:464,0,441
1 46808860 rs56126529 C T 494.83 PASS AB=0.524;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.913;DB;DP=42;Dels=0.0;FS=8.07;HRun=0;HaplotypeScore=0.9993;MQ=59.45;MQ0=0;MQRankSum=0.323;QD=11.78;ReadPosRankSum=0.52;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NSUN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472157 GT:AD:DP:GQ:PL 0/1:22,20:42:99:525,0,664
1 46809025 rs7525309 G T 1410.31 PASS AB=0.531;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.143;DB;DP=114;Dels=0.0;FS=1.592;HRun=0;HaplotypeScore=0.8321;MQ=59.23;MQ0=0;MQRankSum=-0.429;QD=12.37;ReadPosRankSum=-0.486;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NSUN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472157 GT:AD:DP:GQ:PL 0/1:60,53:114:99:1440,0,1787
1 46809321 rs7548675 C G 811.18 PASS AB=0.435;AC=1;AF=0.50;AN=2;BaseQRankSum=1.828;DB;DP=46;Dels=0.0;FS=1.159;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.144;QD=17.63;ReadPosRankSum=-0.565;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NSUN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472157 GT:AD:DP:GQ:PL 0/1:20,26:46:99:841,0,578
1 46809419 rs7515284 A G 224.72 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=0.484;DB;DP=24;Dels=0.0;FS=1.76;HRun=0;HaplotypeScore=0.0;MQ=59.03;MQ0=0;MQRankSum=-0.484;QD=9.36;ReadPosRankSum=1.581;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NSUN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472157 GT:AD:DP:GQ:PL 0/1:15,9:24:99:255,0,516
1 46810405 rs142663838 TG T 309.28 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=2.816;DB;DP=20;FS=0.0;HRun=5;HaplotypeScore=55.6551;IndelType=D;MQ=60.0;MQ0=0;MQRankSum=0.27;QD=15.46;ReadPosRankSum=-0.501;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NSUN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472157 GT:AD:DP:GQ:PL 0/1:8,12:20:99:348,0,268
1 46810670 rs17361763 T C 742.47 PASS AB=0.442;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.774;DB;DP=52;Dels=0.0;FS=2.507;HRun=0;HaplotypeScore=0.0;MQ=59.56;MQ0=0;MQRankSum=0.479;QD=14.28;ReadPosRankSum=-0.755;SNPEFF_AMINO_ACID_CHANGE=D48;SNPEFF_CODON_CHANGE=gaT/gaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_46810473_46810816;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NSUN4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000536062 GT:AD:DP:GQ:PL 0/1:23,29:52:99:772,0,723
1 46810842 rs6684274 C T 214.50 PASS AB=0.588;AC=1;AF=0.50;AN=2;BaseQRankSum=2.586;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9999;MQ=60.0;MQ0=0;MQRankSum=0.244;QD=12.62;ReadPosRankSum=1.415;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NSUN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472157 GT:AD:DP:GQ:PL 0/1:10,7:17:99:244,0,264
1 46812360 rs112089006 C T 36.55 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.026;QD=9.14;ReadPosRankSum=-1.026;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NSUN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475281 GT:AD:DP:GQ:PL 0/1:2,2:4:66.54:67,0,68
1 46812374 rs72677585 T C 41.96 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.026;QD=10.49;ReadPosRankSum=-1.026;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NSUN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475281 GT:AD:DP:GQ:PL 0/1:2,2:4:55.93:72,0,56
1 46812444 rs17357676 A G 76.68 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.21;MQ0=0;MQRankSum=0.358;QD=15.34;ReadPosRankSum=1.231;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NSUN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475281 GT:AD:DP:GQ:PL 0/1:2,3:5:54.86:107,0,55
1 46812519 rs17361791 A G 221.53 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.119;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.84;MQ0=0;MQRankSum=0.27;QD=11.08;ReadPosRankSum=0.039;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NSUN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475281 GT:AD:DP:GQ:PL 0/1:12,8:20:99:252,0,416
1 46812852 rs41294460 G A 70.80 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.21;MQ0=0;MQRankSum=-0.731;QD=14.16;ReadPosRankSum=0.731;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NSUN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475281 GT:AD:DP:GQ:PL 0/1:1,4:5:30.20:101,0,30
1 46818374 rs41294476 C A 171.43 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.38;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9578;MQ=58.05;MQ0=0;MQRankSum=-1.134;QD=14.29;ReadPosRankSum=0.689;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NSUN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474844 GT:AD:DP:GQ:PL 0/1:5,7:12:99:201,0,170
1 46818416 rs17413694 A C 264.71 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.919;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.87;MQ0=0;MQRankSum=-1.182;QD=12.03;ReadPosRankSum=-0.066;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NSUN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474844 GT:AD:DP:GQ:PL 0/1:11,11:22:99:295,0,401
1 46818417 rs77185326 T C 247.81 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.707;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.87;MQ0=0;MQRankSum=0.854;QD=11.26;ReadPosRankSum=-0.131;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NSUN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474844 GT:AD:DP:GQ:PL 0/1:11,11:22:99:278,0,379
1 46818442 rs41294478 G A 440.70 PASS AB=0.433;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.423;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.04;MQ0=0;MQRankSum=0.167;QD=14.69;ReadPosRankSum=-1.59;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NSUN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474844 GT:AD:DP:GQ:PL 0/1:13,17:30:99:471,0,406
1 46818452 rs17413701 A G 390.90 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.986;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9578;MQ=56.85;MQ0=0;MQRankSum=-0.664;QD=13.03;ReadPosRankSum=-0.29;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NSUN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474844 GT:AD:DP:GQ:PL 0/1:15,15:30:99:421,0,513
1 46818479 rs7515598 C T 621.91 PASS AB=0.458;AC=1;AF=0.50;AN=2;BaseQRankSum=0.259;DB;DP=48;Dels=0.0;FS=1.201;HRun=0;HaplotypeScore=0.0;MQ=57.56;MQ0=0;MQRankSum=-1.355;QD=12.96;ReadPosRankSum=0.176;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NSUN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474844 GT:AD:DP:GQ:PL 0/1:22,26:48:99:652,0,666
1 46818508 rs7529674 T C 1000.63 PASS AB=0.474;AC=1;AF=0.50;AN=2;BaseQRankSum=4.067;DB;DP=57;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.7887;MQ=57.95;MQ0=0;MQRankSum=-0.887;QD=17.55;ReadPosRankSum=0.471;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NSUN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474844 GT:AD:DP:GQ:PL 0/1:27,30:57:99:1031,0,737
1 46826587 rs55887761 C A 146.90 PASS AB=0.55;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.823;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=-0.684;QD=7.35;ReadPosRankSum=-1.216;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NSUN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000486270 GT:AD:DP:GQ:PL 0/1:11,9:20:99:177,0,386
1 46827214 rs324414 A C 1341.89 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.39;MQ0=0;QD=35.31;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NSUN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000486270 GT:AD:DP:GQ:PL 1/1:0,38:38:99:1375,102,0
1 46827485 rs1053624 C T 534.87 PASS AB=0.487;AC=1;AF=0.50;AN=2;BaseQRankSum=0.604;DB;DP=39;Dels=0.0;FS=4.664;HRun=0;HaplotypeScore=0.0;MQ=59.41;MQ0=0;MQRankSum=-1.503;QD=13.71;ReadPosRankSum=-1.307;SNPEFF_AMINO_ACID_CHANGE=P325;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_46827242_46827666;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NSUN4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000536062 GT:AD:DP:GQ:PL 0/1:19,20:39:99:565,0,568
1 46870761 rs324420 C A 726.43 PASS AB=0.489;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.479;DB;DP=47;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.053;QD=15.46;ReadPosRankSum=0.734;SNPEFF_AMINO_ACID_CHANGE=P129T;SNPEFF_CODON_CHANGE=Cca/Aca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_46870686_46870820;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAAH;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000243167 GT:AD:DP:GQ:PL 0/1:23,24:47:99:756,0,679
1 46871986 rs324419 T C 1408.08 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.5;MQ0=0;QD=30.61;SNPEFF_AMINO_ACID_CHANGE=C299;SNPEFF_CODON_CHANGE=tgT/tgC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_46871916_46872040;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAAH;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000243167 GT:AD:DP:GQ:PL 1/1:0,46:46:99:1441,117,0
1 46874383 rs2295633 A G 90.04 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=0.289;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9734;MQ=57.84;MQ0=0;MQRankSum=-0.536;QD=6.93;ReadPosRankSum=0.289;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAAH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468718 GT:AD:DP:GQ:PL 0/1:8,5:13:99:120,0,273
1 46877180 rs6662982 G A 74.91 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.727;QD=18.73;ReadPosRankSum=0.727;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAAH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000396325 GT:AD:DP:GQ:PL 0/1:1,3:4:28.61:105,0,29
1 46976837 rs1886116 C T 941.76 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.23;MQ0=0;QD=31.39;SNPEFF_AMINO_ACID_CHANGE=P188;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_46976607_46976955;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DMBX1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000360032 GT:AD:DP:GQ:PL 1/1:0,30:30:72.24:975,72,0
1 46977886 rs114486361 G C 306.53 PASS AB=0.548;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.297;DB;DP=31;Dels=0.0;FS=1.447;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=-0.042;QD=9.89;ReadPosRankSum=1.339;SNPEFF_AMINO_ACID_CHANGE=G285A;SNPEFF_CODON_CHANGE=gGt/gCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_46977715_46979898;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DMBX1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000360032 GT:AD:DP:GQ:PL 0/1:17,14:31:99:337,0,607
1 47006026 rs141775788 TGCGTGTGCGCGTGCGC T 747.16 PASS AB=0.771;AC=1;AF=0.50;AN=2;BaseQRankSum=3.279;DB;DP=27;FS=0.0;HRun=0;HaplotypeScore=453.2885;IndelType=D;MQ=45.36;MQ0=0;MQRankSum=-0.81;QD=27.67;ReadPosRankSum=1.582;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AL136373.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401325 GT:AD:DP:GQ:PL 0/1:19,8:27:99:786,0,440
1 47013180 rs10890404 A G 135.33 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.07;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=KNCN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294445 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:168,12,0
1 47013364 rs1258041 T C 90.27 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.57;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=KNCN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294445 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:122,9,0
1 47014821 . A AAAAAG 1148.55 PASS AC=2;AF=1.00;AN=2;DP=16;FS=0.0;HRun=0;HaplotypeScore=55.8923;IndelType=I;MQ=49.45;MQ0=0;QD=71.78;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=KNCN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000396314 GT:AD:DP:GQ:PL 1/1:0,14:16:48.16:1191,48,0
1 47059934 rs1258021 T C 338.70 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.22;SNPEFF_AMINO_ACID_CHANGE=Q32R;SNPEFF_CODON_CHANGE=cAa/cGa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_47059785_47059952;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MKNK1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000532110 GT:AD:DP:GQ:PL 1/1:0,12:12:33.07:372,33,0
1 47108828 rs736188 T C 375.40 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.54;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATPAF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329231 GT:AD:DP:GQ:PL 1/1:0,10:10:30.09:408,30,0
1 47109089 rs1745377 A G 153.64 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.73;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATPAF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329231 GT:AD:DP:GQ:PL 1/1:0,5:5:15.04:186,15,0
1 47110668 rs1258054 G C 243.46 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.43;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATPAF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329231 GT:AD:DP:GQ:PL 1/1:0,8:8:24.06:276,24,0
1 47110712 rs1258053 C T 391.03 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATPAF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329231 GT:AD:DP:GQ:PL 1/1:0,11:11:33.10:424,33,0
1 47110766 rs5773919 G GC 800.69 PASS AC=2;AF=1.00;AN=2;DB;DP=19;FS=0.0;HRun=1;HaplotypeScore=55.3779;IndelType=I;MQ=60.57;MQ0=0;QD=42.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATPAF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329231 GT:AD:DP:GQ:PL 1/1:0,19:19:57.19:843,57,0
1 47138444 rs616249 C T 340.47 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.37;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA0494;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371933 GT:AD:DP:GQ:PL 1/1:0,12:12:30.06:373,30,0
1 47153855 rs11211340 T A 359.93 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.87;MQ0=0;QD=32.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA0494;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371933 GT:AD:DP:GQ:PL 1/1:0,11:11:33.07:393,33,0
1 47264626 . T C 36.17 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=51.77;MQ0=0;MQRankSum=0.736;QD=12.06;ReadPosRankSum=-0.736;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CYP4B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000546128 GT:AD:DP:GQ:PL 0/1:1,2:3:32.20:66,0,32
1 47276728 rs2297812 G C 480.63 PASS AB=0.459;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.87;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.5;MQ0=0;MQRankSum=-1.172;QD=12.99;ReadPosRankSum=-0.222;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CYP4B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000546128 GT:AD:DP:GQ:PL 0/1:17,20:37:99:511,0,530
1 47279789 rs2297811 C T 648.16 PASS AB=0.477;AC=1;AF=0.50;AN=2;BaseQRankSum=0.352;DB;DP=44;Dels=0.0;FS=3.85;HRun=0;HaplotypeScore=0.0;MQ=59.48;MQ0=0;MQRankSum=1.519;QD=14.73;ReadPosRankSum=0.328;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CYP4B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000526297 GT:AD:DP:GQ:PL 0/1:21,23:44:99:678,0,683
1 47280746 rs59248357 GAT G 647.83 PASS AB=0.66;AC=1;AF=0.50;AN=2;BaseQRankSum=4.202;DB;DP=33;FS=3.393;HRun=0;HaplotypeScore=110.8765;IndelType=D;MQ=60.65;MQ0=0;MQRankSum=-2.431;QD=19.63;ReadPosRankSum=0.961;SNPEFF_EFFECT=FRAME_SHIFT;SNPEFF_EXON_ID=exon_1_47280746_47280936;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CYP4B1;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000271153 GT:AD:DP:GQ:PL 0/1:16,17:33:99:687,0,887
1 47280859 rs2297810 G A 401.26 PASS AB=0.483;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.807;DB;DP=29;Dels=0.0;FS=3.696;HRun=0;HaplotypeScore=0.9665;MQ=60.0;MQ0=0;MQRankSum=-0.153;QD=13.84;ReadPosRankSum=-0.764;SNPEFF_AMINO_ACID_CHANGE=M168I;SNPEFF_CODON_CHANGE=atG/atA;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_47280746_47280936;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CYP4B1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000468637 GT:AD:DP:GQ:PL 0/1:14,15:29:99:431,0,492
1 47280884 rs4646491 C T 345.52 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=2.55;DB;DP=30;Dels=0.0;FS=6.262;HRun=1;HaplotypeScore=0.9665;MQ=59.07;MQ0=0;MQRankSum=-0.391;QD=11.52;ReadPosRankSum=1.493;SNPEFF_AMINO_ACID_CHANGE=R177C;SNPEFF_CODON_CHANGE=Cgt/Tgt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_47280746_47280936;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CYP4B1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000468637 GT:AD:DP:GQ:PL 0/1:14,16:30:99:376,0,409
1 47282772 rs2297809 C T 651.63 PASS AB=0.593;AC=1;AF=0.50;AN=2;BaseQRankSum=1.792;DB;DP=59;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.61;MQ0=0;MQRankSum=0.482;QD=11.04;ReadPosRankSum=1.808;SNPEFF_AMINO_ACID_CHANGE=R212C;SNPEFF_CODON_CHANGE=Cgc/Tgc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_47282720_47282853;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CYP4B1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000468637 GT:AD:DP:GQ:PL 0/1:35,24:59:99:682,0,979
1 47282888 rs35333582 C T 348.53 PASS AB=0.536;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.318;DB;DP=28;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.33;MQ0=0;MQRankSum=0.464;QD=12.45;ReadPosRankSum=-0.464;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CYP4B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468637 GT:AD:DP:GQ:PL 0/1:15,13:28:99:379,0,498
1 47351052 rs5003005 A T 261.80 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=21.31;MQ0=14;QD=9.35;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CYP4Z2P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000423332 GT:AD:DP:GQ:PL 1/1:0,27:28:32.96:295,33,0
1 47395973 rs1126743 G A 1563.96 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;QD=31.92;SNPEFF_AMINO_ACID_CHANGE=I458;SNPEFF_CODON_CHANGE=atC/atT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_47394849_47395982;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYP4A11;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000310638 GT:AD:DP:GQ:PL 1/1:0,49:49:99:1597,117,0
1 47398743 rs3890011 G C 6825.17 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.744;DB;DP=205;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.7676;MQ=59.12;MQ0=2;MQRankSum=2.425;QD=33.13;ReadPosRankSum=1.845;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYP4A11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000457840 GT:AD:DP:GQ:PL 1/1:4,201:205:99:6825,464,0
1 47399415 rs28438640 C A 84.34 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.11;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYP4A11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000457840 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:116,9,0
1 47400059 rs71500102 A G 594.49 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=26.58;MQ0=4;QD=21.23;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYP4A11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310638 GT:AD:DP:GQ:PL 1/1:0,28:28:57.15:627,57,0
1 47401424 rs2269231 A T 738.03 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=38.97;MQ0=1;QD=30.75;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYP4A11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310638 GT:AD:DP:GQ:PL 1/1:0,24:24:66.14:771,66,0
1 47401466 rs2269232 T C 467.16 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=43.42;MQ0=0;QD=25.95;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYP4A11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310638 GT:AD:DP:GQ:PL 1/1:0,18:18:45.10:500,45,0
1 47402487 rs67515839 TTGTG T 371.38 PASS AB=0.719;AC=1;AF=0.50;AN=2;BaseQRankSum=1.393;DB;DP=23;FS=0.0;HRun=0;HaplotypeScore=130.0906;IndelType=D;MQ=59.41;MQ0=0;MQRankSum=1.393;QD=16.15;ReadPosRankSum=0.348;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYP4A11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310638 GT:AD:DP:GQ:PL 0/1:14,9:23:1.27:409,0,1
1 47495822 rs12141009 C T 1347.02 PASS AB=0.413;AC=1;AF=0.50;AN=2;BaseQRankSum=0.508;DB;DP=80;Dels=0.0;FS=6.388;HRun=1;HaplotypeScore=0.9958;MQ=60.0;MQ0=0;MQRankSum=-1.466;QD=16.84;ReadPosRankSum=-0.85;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYP4X1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371901 GT:AD:DP:GQ:PL 0/1:33,47:80:99:1377,0,1004
1 47496983 rs12041262 C A 620.93 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.167;DB;DP=44;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.3769;MQ=60.0;MQ0=0;MQRankSum=-0.672;QD=14.11;ReadPosRankSum=0.672;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYP4X1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371901 GT:AD:DP:GQ:PL 0/1:24,20:44:99:651,0,856
1 47514024 rs10890447 A G 210.16 PASS AB=0.357;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.313;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.212;QD=15.01;ReadPosRankSum=0.533;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYP4X1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371901 GT:AD:DP:GQ:PL 0/1:5,9:14:99:240,0,176
1 47515563 rs11448645 G GA 286.66 PASS AB=0.722;AC=1;AF=0.50;AN=2;BaseQRankSum=2.388;DB;DP=26;FS=0.0;HRun=5;HaplotypeScore=90.884;IndelType=I;MQ=60.0;MQ0=0;MQRankSum=-1.085;QD=11.03;ReadPosRankSum=0.589;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYP4X1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371901 GT:AD:DP:GQ:PL 0/1:16,10:26:99:326,0,350
1 47515596 rs1393659 A C 736.97 PASS AB=0.528;AC=1;AF=0.50;AN=2;BaseQRankSum=3.002;DB;DP=53;Dels=0.0;FS=1.728;HRun=0;HaplotypeScore=0.0;MQ=59.65;MQ0=0;MQRankSum=0.347;QD=13.91;ReadPosRankSum=-1.131;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYP4X1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371901 GT:AD:DP:GQ:PL 0/1:28,25:53:99:767,0,917
1 47534107 rs2055500 A T 115.56 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=19.26;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYP4Z1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334194 GT:AD:DP:GQ:PL 0/1:2,4:6:63.49:146,0,63
1 47548189 rs116734532 A G 303.09 PASS AB=0.702;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.155;DB;DP=104;Dels=0.0;FS=1.222;HRun=0;HaplotypeScore=0.0;MQ=48.71;MQ0=7;MQRankSum=-6.617;QD=2.91;ReadPosRankSum=2.571;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYP4Z1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334194 GT:AD:DP:GQ:PL 0/1:73,31:104:99:333,0,2484
1 47550246 . G GA 116.91 PASS AB=0.837;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.79;DP=34;FS=9.956;HRun=3;HaplotypeScore=90.844;IndelType=I;MQ=47.14;MQ0=2;MQRankSum=-0.99;QD=3.25;ReadPosRankSum=0.266;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYP4Z1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334194 GT:AD:DP:GQ:PL 0/1:29,7:34:99:156,0,840
1 47560039 rs12564635 G T 97.81 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=0.365;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=45.15;MQ0=0;MQRankSum=-0.365;QD=9.78;ReadPosRankSum=2.072;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYP4Z1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334194 GT:AD:DP:GQ:PL 0/1:6,4:10:99:128,0,201
1 47571902 rs4926802 C T 377.02 PASS AB=0.521;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.013;DB;DP=49;Dels=0.0;FS=1.423;HRun=1;HaplotypeScore=6.999;MQ=51.16;MQ0=0;MQRankSum=-3.482;QD=7.69;ReadPosRankSum=-1.578;SNPEFF_AMINO_ACID_CHANGE=I390;SNPEFF_CODON_CHANGE=atC/atT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_47571800_47571933;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYP4Z1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000334194 GT:AD:DP:GQ:PL 0/1:25,23:49:99:407,0,568
1 47571905 rs28463559 C T 370.67 PASS AB=0.529;AC=1;AF=0.50;AN=2;BaseQRankSum=0.238;DB;DP=51;Dels=0.0;FS=1.411;HRun=3;HaplotypeScore=6.999;MQ=51.01;MQ0=0;MQRankSum=-2.918;QD=7.27;ReadPosRankSum=-1.669;SNPEFF_AMINO_ACID_CHANGE=T391;SNPEFF_CODON_CHANGE=acC/acT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_47571800_47571933;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYP4Z1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000334194 GT:AD:DP:GQ:PL 0/1:27,24:51:99:401,0,713
1 47571943 rs5773936 CTTT C 372.68 PASS AB=0.672;AC=1;AF=0.50;AN=2;BaseQRankSum=2.732;DB;DP=43;FS=13.074;HRun=16;HaplotypeScore=423.3243;IndelType=D;MQ=49.69;MQ0=0;MQRankSum=-1.838;QD=8.28;ReadPosRankSum=1.97;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYP4Z1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334194 GT:AD:DP:GQ:PL 0/1:23,18:43:99:412,0,757
1 47571996 rs4926804 T C 285.01 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.32;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.26;MQ0=0;MQRankSum=-1.599;QD=13.57;ReadPosRankSum=-0.178;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYP4Z1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334194 GT:AD:DP:GQ:PL 0/1:9,12:21:99:315,0,247
1 47572046 rs4926805 C T 73.19 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.406;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9993;MQ=57.28;MQ0=0;MQRankSum=0.406;QD=10.46;ReadPosRankSum=-0.406;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYP4Z1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334194 GT:AD:DP:GQ:PL 0/1:3,3:7:99:103,0,105
1 47581122 rs7547893 A T 145.53 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=0.529;DB;DP=16;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.741;QD=9.1;ReadPosRankSum=0.318;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYP4Z1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334194 GT:AD:DP:GQ:PL 0/1:9,7:16:99:176,0,309
1 47582292 rs10890465 T G 85.93 PASS AB=0.68;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.214;DB;DP=26;Dels=0.0;FS=2.793;HRun=0;HaplotypeScore=1.2434;MQ=55.77;MQ0=0;MQRankSum=-0.827;QD=3.3;ReadPosRankSum=-0.888;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYP4Z1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334194 GT:AD:DP:GQ:PL 0/1:17,8:26:99:116,0,503
1 47583284 rs6664392 G A 108.94 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.368;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=-0.922;QD=13.62;ReadPosRankSum=0.922;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYP4Z1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334194 GT:AD:DP:GQ:PL 0/1:4,4:8:99:139,0,143
1 47583321 rs66687879 G GA 217.68 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.4;DB;DP=15;FS=0.0;HRun=9;HaplotypeScore=45.9838;IndelType=I;MQ=60.0;MQ0=0;MQRankSum=0.533;QD=14.51;ReadPosRankSum=-1.733;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYP4Z1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334194 GT:AD:DP:GQ:PL 0/1:6,9:15:88.18:257,0,88
1 47583415 rs6664496 G T 582.55 PASS AB=0.524;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.617;DB;DP=42;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.9789;MQ=59.0;MQ0=0;MQRankSum=-1.121;QD=13.87;ReadPosRankSum=0.063;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYP4Z1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334194 GT:AD:DP:GQ:PL 0/1:22,20:42:99:613,0,721
1 47603010 rs117405989 C T 178.08 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.589;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.572;QD=22.26;ReadPosRankSum=-1.067;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CYP4A22;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294337 GT:AD:DP:GQ:PL 0/1:2,6:8:61.94:208,0,62
1 47603033 rs67939098 GT G 344.58 PASS AB=0.577;AC=1;AF=0.50;AN=2;BaseQRankSum=2.807;DB;DP=15;FS=0.0;HRun=2;HaplotypeScore=59.2902;IndelType=D;MQ=60.72;MQ0=0;MQRankSum=-0.718;QD=22.97;ReadPosRankSum=-0.457;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CYP4A22;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294337 GT:AD:DP:GQ:PL 0/1:4,11:15:99:384,0,135
1 47607281 rs12564525 C T 728.58 PASS AB=0.517;AC=1;AF=0.50;AN=2;BaseQRankSum=3.515;DB;DP=60;Dels=0.0;FS=7.398;HRun=0;HaplotypeScore=0.0;MQ=57.42;MQ0=1;MQRankSum=-0.171;QD=12.14;ReadPosRankSum=-0.062;SNPEFF_AMINO_ACID_CHANGE=R126W;SNPEFF_CODON_CHANGE=Cgg/Tgg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_47607243_47607287;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CYP4A22;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000294337 GT:AD:DP:GQ:PL 0/1:31,29:60:99:759,0,740
1 47607405 rs117435390 G A 122.20 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.307;DB;DP=9;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=-0.361;QD=13.58;ReadPosRankSum=-0.361;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CYP4A22;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294337 GT:AD:DP:GQ:PL 0/1:4,5:9:99:152,0,137
1 47607452 rs116909100 G T 33.53 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.026;QD=8.38;ReadPosRankSum=1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CYP4A22;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294337 GT:AD:DP:GQ:PL 0/1:2,2:4:58.64:64,0,59
1 47607851 rs2056899 A T 552.73 PASS AB=0.51;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.53;DB;DP=51;Dels=0.0;FS=1.093;HRun=0;HaplotypeScore=1.7791;MQ=54.49;MQ0=0;MQRankSum=-0.83;QD=10.84;ReadPosRankSum=-0.35;SNPEFF_AMINO_ACID_CHANGE=N152Y;SNPEFF_CODON_CHANGE=Aat/Tat;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_47607780_47607907;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CYP4A22;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000294337 GT:AD:DP:GQ:PL 0/1:26,25:51:99:583,0,750
1 47609489 rs10789501 T C 866.77 PASS AB=0.492;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.319;DB;DP=65;Dels=0.0;FS=0.938;HRun=1;HaplotypeScore=0.9867;MQ=58.55;MQ0=0;MQRankSum=-1.529;QD=13.33;ReadPosRankSum=-0.098;SNPEFF_AMINO_ACID_CHANGE=C231R;SNPEFF_CODON_CHANGE=Tgt/Cgt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_47609434_47609588;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CYP4A22;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000294337 GT:AD:DP:GQ:PL 0/1:32,33:65:99:897,0,1011
1 47609668 rs911909 T C 270.63 PASS AB=0.421;AC=1;AF=0.50;AN=2;BaseQRankSum=0.83;DB;DP=19;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.83;QD=14.24;ReadPosRankSum=-2.391;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CYP4A22;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294337 GT:AD:DP:GQ:PL 0/1:8,11:19:99:301,0,233
1 47610436 rs147000658 G A 77.73 MQFilter40 AB=0.647;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.867;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=38.03;MQ0=3;MQRankSum=-0.133;QD=4.57;ReadPosRankSum=-0.133;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CYP4A22;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294337 GT:AD:DP:GQ:PL 0/1:11,6:17:99:108,0,290
1 47611598 rs2405599 T C 2431.97 PASS AB=0.579;AC=1;AF=0.50;AN=2;BaseQRankSum=3.262;DB;DP=203;DS;Dels=0.0;FS=13.605;HRun=2;HaplotypeScore=5.5929;MQ=55.16;MQ0=0;MQRankSum=-4.033;QD=11.98;ReadPosRankSum=-0.137;SNPEFF_AMINO_ACID_CHANGE=L330P;SNPEFF_CODON_CHANGE=cTa/cCa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_47611538_47611602;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CYP4A22;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000371890 GT:AD:DP:GQ:PL 0/1:117,85:203:99:2462,0,3806
1 47611940 rs911905 A G 709.54 PASS AB=0.558;AC=1;AF=0.50;AN=2;BaseQRankSum=1.657;DB;DP=77;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.5449;MQ=52.07;MQ0=3;MQRankSum=-4.514;QD=9.21;ReadPosRankSum=0.061;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CYP4A22;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371890 GT:AD:DP:GQ:PL 0/1:43,34:77:99:740,0,1422
1 47614185 rs760440 G C 236.82 PASS AB=0.529;AC=1;AF=0.50;AN=2;BaseQRankSum=0.473;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.27;MQ0=0;MQRankSum=-1.208;QD=13.93;ReadPosRankSum=0.158;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CYP4A22;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294337 GT:AD:DP:GQ:PL 0/1:9,8:17:99:267,0,269
1 47685455 rs927462 T C 623.89 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.0;SNPEFF_AMINO_ACID_CHANGE=K311;SNPEFF_CODON_CHANGE=aaA/aaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_47681964_47685846;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAL1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000294339 GT:AD:DP:GQ:PL 1/1:0,23:24:54.14:657,54,0
1 47689842 rs34087210 C G 172.12 PASS AB=0.579;AC=1;AF=0.50;AN=2;BaseQRankSum=1.644;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.992;MQ=58.78;MQ0=0;MQRankSum=0.044;QD=9.06;ReadPosRankSum=-0.489;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465912 GT:AD:DP:GQ:PL 0/1:11,8:19:99:202,0,316
1 47691568 rs5773940 GCAGA G 196.88 PASS AB=0.688;AC=1;AF=0.50;AN=2;BaseQRankSum=2.219;DB;DP=11;FS=0.0;HRun=0;HaplotypeScore=60.9862;IndelType=D;MQ=58.88;MQ0=0;MQRankSum=1.652;QD=17.9;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465912 GT:AD:DP:GQ:PL 0/1:6,5:11:99:236,0,279
1 47717189 rs2758735 A G 910.47 PASS AB=0.564;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.248;DB;DP=78;Dels=0.0;FS=6.122;HRun=2;HaplotypeScore=0.5784;MQ=59.7;MQ0=0;MQRankSum=0.365;QD=11.67;ReadPosRankSum=-1.127;SNPEFF_AMINO_ACID_CHANGE=P1144;SNPEFF_CODON_CHANGE=ccT/ccC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_47716294_47717594;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STIL;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000396221 GT:AD:DP:GQ:PL 0/1:44,34:78:99:940,0,1465
1 47726087 rs13376679 T C 725.75 PASS AB=0.639;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.245;DB;DP=72;Dels=0.0;FS=2.04;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.167;QD=10.08;ReadPosRankSum=1.073;SNPEFF_AMINO_ACID_CHANGE=H967R;SNPEFF_CODON_CHANGE=cAt/cGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_47725961_47726211;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STIL;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000396221 GT:AD:DP:GQ:PL 0/1:46,26:72:99:756,0,1437
1 47735280 rs2742104 T C 109.66 PASS AB=0.706;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.791;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.63;MQ0=0;MQRankSum=-1.001;QD=6.45;ReadPosRankSum=0.158;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STIL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000243182 GT:AD:DP:GQ:PL 0/1:12,5:17:99:140,0,404
1 47753405 rs12125261 G A 122.92 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.667;DB;DP=14;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.133;QD=8.78;ReadPosRankSum=0.533;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STIL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000243182 GT:AD:DP:GQ:PL 0/1:9,5:14:99:153,0,336
1 47759357 . C T 167.40 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.073;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.259;QD=13.95;ReadPosRankSum=0.259;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STIL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000243182 GT:AD:DP:GQ:PL 0/1:6,6:12:99:197,0,180
1 47765490 rs9436838 T C 139.46 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.322;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.221;QD=17.43;ReadPosRankSum=0.684;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STIL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000413565 GT:AD:DP:GQ:PL 0/1:3,5:8:96.19:169,0,96
1 47767141 rs6689687 C A 134.37 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.267;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.667;QD=9.6;ReadPosRankSum=0.4;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STIL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000413565 GT:AD:DP:GQ:PL 0/1:9,5:14:99:164,0,296
1 47767914 rs3125630 G A 256.12 PASS AB=0.522;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.923;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.508;QD=11.14;ReadPosRankSum=-1.569;SNPEFF_AMINO_ACID_CHANGE=A86V;SNPEFF_CODON_CHANGE=gCa/gTa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_47767906_47768018;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STIL;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000243182 GT:AD:DP:GQ:PL 0/1:12,11:23:99:286,0,368
1 47770441 rs3122615 A C 52.48 PASS AB=0.733;AC=1;AF=0.50;AN=2;BaseQRankSum=0.196;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.588;QD=3.5;ReadPosRankSum=-0.457;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STIL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000243182 GT:AD:DP:GQ:PL 0/1:11,4:15:82.47:82,0,406
1 47770786 rs6692734 T A 122.88 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.33;MQ0=0;MQRankSum=1.467;QD=8.78;ReadPosRankSum=-2.133;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STIL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000243182 GT:AD:DP:GQ:PL 0/1:9,5:14:99:153,0,314
1 47770806 rs12129594 T C 114.64 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=1.754;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.3;QD=14.33;ReadPosRankSum=1.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STIL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000243182 GT:AD:DP:GQ:PL 0/1:3,5:8:95.92:145,0,96
1 47799639 rs7543016 G C 70.73 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=17.68;ReadPosRankSum=0.727;SNPEFF_AMINO_ACID_CHANGE=G8R;SNPEFF_CODON_CHANGE=Ggg/Cgg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_47799469_47799788;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CMPK1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000371873 GT:AD:DP:GQ:PL 0/1:1,3:4:28.61:101,0,29
1 47838485 rs143299123 CT C 74.29 PASS AC=2;AF=1.00;AN=2;DB;DP=7;FS=0.0;HRun=12;HaplotypeScore=32.6459;IndelType=D;MQ=56.62;MQ0=0;QD=10.61;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CMPK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371873 GT:AD:DP:GQ:PL 1/1:2,5:7:14.91:116,15,0
1 47841038 rs71572659 G GA 384.13 PASS AB=0.594;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.48;DB;DP=19;FS=0.0;HRun=7;HaplotypeScore=47.1747;IndelType=I;MQ=60.0;MQ0=0;MQRankSum=0.269;QD=20.22;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CMPK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371870 GT:AD:DP:GQ:PL 0/1:6,13:19:38.75:423,0,39
1 47841109 rs2253511 T C 81.76 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.44;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CMPK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371870 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:114,9,0
1 47842431 rs3125648 G A 1280.24 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.39;MQ0=0;QD=33.69;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CMPK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371870 GT:AD:DP:GQ:PL 1/1:0,38:38:99:1313,105,0
1 47882497 rs34082359 C T 118.57 PASS AB=0.737;AC=1;AF=0.50;AN=2;BaseQRankSum=3.194;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.324;QD=6.24;ReadPosRankSum=-2.083;SNPEFF_AMINO_ACID_CHANGE=A170;SNPEFF_CODON_CHANGE=gcC/gcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_47881744_47883723;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FOXE3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000335071 GT:AD:DP:GQ:PL 0/1:14,5:19:99:149,0,349
1 47904909 rs2405913 G C 40 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.0;SNPEFF_AMINO_ACID_CHANGE=A368P;SNPEFF_CODON_CHANGE=Gcg/Ccg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_47901689_47906363;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FOXD2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000334793 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:71,6,0
1 47968317 rs2065947 G A 1751.13 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.59;MQ0=0;QD=31.27;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AL356458.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408419 GT:AD:DP:GQ:PL 1/1:0,56:56:99:1784,129,0
1 48086756 rs55907557 C CCT 994.54 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.962;DB;DP=51;FS=2.872;HRun=0;HaplotypeScore=407.5864;IndelType=I;MQ=59.9;MQ0=0;MQRankSum=0.189;QD=19.5;ReadPosRankSum=0.441;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AL591415.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408520 GT:AD:DP:GQ:PL 1/1:27,24:51:70.99:1037,71,0
1 48086769 rs12563718 A C 528.61 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.279;DB;DP=43;Dels=0.02;FS=2.684;HRun=0;HaplotypeScore=5.898;MQ=59.88;MQ0=0;MQRankSum=-1.108;QD=12.01;ReadPosRankSum=2.404;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AL591415.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408520 GT:AD:DP:GQ:PL 1/1:4,39:43:42.12:562,42,0
1 48688376 rs41287916 A G 124.94 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.45;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.47;QD=12.49;ReadPosRankSum=0.336;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=SLC5A9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420136 GT:AD:DP:GQ:PL 0/1:5,5:10:99:155,0,180
1 48690229 rs10788884 C A 35.12 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=8.78;ReadPosRankSum=-1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=SLC5A9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236495 GT:AD:DP:GQ:PL 0/1:2,2:4:65.11:65,0,71
1 48697733 rs212991 T G 1154.71 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.25;SNPEFF_AMINO_ACID_CHANGE=I269M;SNPEFF_CODON_CHANGE=atT/atG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_48697618_48697823;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=SLC5A9;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000438567 GT:AD:DP:GQ:PL 1/1:0,31:31:90.28:1188,90,0
1 48697751 rs61997212 C T 579.55 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.694;DB;DP=27;Dels=0.0;FS=6.884;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.806;QD=21.46;ReadPosRankSum=1.028;SNPEFF_AMINO_ACID_CHANGE=S275;SNPEFF_CODON_CHANGE=agC/agT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_48697618_48697823;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=SLC5A9;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000438567 GT:AD:DP:GQ:PL 0/1:9,18:27:99:610,0,220
1 48705391 rs11205459 G A 46.65 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.32;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=SLC5A9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420136 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:78,6,0
1 48708250 rs78427303 C T 509.11 PASS AB=0.367;AC=1;AF=0.50;AN=2;BaseQRankSum=2.238;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.23;MQ0=0;MQRankSum=-1.291;QD=16.97;ReadPosRankSum=-1.721;SNPEFF_AMINO_ACID_CHANGE=A600V;SNPEFF_CODON_CHANGE=gCg/gTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_48708129_48708288;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=SLC5A9;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000438567 GT:AD:DP:GQ:PL 0/1:11,19:30:99:539,0,282
1 48708278 rs75538709 G A 411.20 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.723;DB;DP=28;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.267;QD=14.69;ReadPosRankSum=1.092;SNPEFF_AMINO_ACID_CHANGE=E609;SNPEFF_CODON_CHANGE=gaG/gaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_48708129_48708288;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=SLC5A9;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000438567 GT:AD:DP:GQ:PL 0/1:14,14:28:99:441,0,418
1 48764419 rs1056042 C T 1389.22 PASS AB=0.44;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.054;DB;DP=84;Dels=0.0;FS=2.962;HRun=0;HaplotypeScore=0.9933;MQ=60.0;MQ0=0;MQRankSum=0.739;QD=16.54;ReadPosRankSum=-0.856;SNPEFF_AMINO_ACID_CHANGE=C406Y;SNPEFF_CODON_CHANGE=tGt/tAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_48764320_48764565;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPATA6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000396199 GT:AD:DP:GQ:PL 0/1:37,47:84:99:1419,0,1179
1 48821318 . C CA 523.01 PASS AB=0.642;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.328;DP=34;FS=0.0;HRun=9;HaplotypeScore=81.5075;IndelType=I;MQ=58.44;MQ0=0;MQRankSum=0.72;QD=15.38;ReadPosRankSum=0.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPATA6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371841 GT:AD:DP:GQ:PL 0/1:15,19:34:99:562,0,216
1 48866555 rs41289162 A G 192.06 PASS AB=0.588;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.025;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.415;QD=11.3;ReadPosRankSum=1.025;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPATA6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371843 GT:AD:DP:GQ:PL 0/1:10,7:17:99:222,0,365
1 48869288 rs3738309 T A 52.05 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.02;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPATA6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371843 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:83,6,0
1 48902552 rs78784453 G A 553.50 PASS AB=0.413;AC=1;AF=0.50;AN=2;BaseQRankSum=0.428;DB;DP=46;Dels=0.0;FS=5.012;HRun=0;HaplotypeScore=0.6651;MQ=44.74;MQ0=3;MQRankSum=-4.072;QD=12.03;ReadPosRankSum=-2.189;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPATA6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371843 GT:AD:DP:GQ:PL 0/1:19,27:46:99:583,0,572
1 48902977 rs2261674 G C 957.34 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=32.71;MQ0=0;QD=29.92;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPATA6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371843 GT:AD:DP:GQ:PL 1/1:0,32:32:87.23:990,87,0
1 48916927 rs2787870 C T 36.67 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.33;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPATA6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371843 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:68,6,0
1 48937691 rs2275309 A T 111.69 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.867;DB;DP=15;Dels=0.0;FS=2.688;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.667;QD=7.45;ReadPosRankSum=1.2;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPATA6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471975 GT:AD:DP:GQ:PL 0/1:9,6:15:99:142,0,293
1 49056695 rs7543402 T C 487.59 PASS AB=0.382;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.916;DB;DP=34;Dels=0.0;FS=5.473;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-2.225;QD=14.34;ReadPosRankSum=1.074;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGBL4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334103 GT:AD:DP:GQ:PL 0/1:13,21:34:99:518,0,344
1 49100332 rs319983 C T 973.83 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.644;DB;DP=76;Dels=0.0;FS=2.646;HRun=1;HaplotypeScore=0.9578;MQ=59.39;MQ0=0;MQRankSum=1.213;QD=12.81;ReadPosRankSum=-0.588;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGBL4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334103 GT:AD:DP:GQ:PL 0/1:38,38:76:99:1004,0,1227
1 49128720 rs320007 C T 294.55 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.306;DB;DP=20;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.265;QD=14.73;ReadPosRankSum=-0.491;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGBL4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334103 GT:AD:DP:GQ:PL 0/1:10,10:20:99:325,0,347
1 49202240 rs4926530 T C 347.64 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.97;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGBL4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371838 GT:AD:DP:GQ:PL 1/1:0,12:12:33.07:381,33,0
1 49208095 rs56653741 A AG 197.56 PASS AC=2;AF=1.00;AN=2;DB;DP=6;FS=0.0;HRun=0;HaplotypeScore=10.887;IndelType=I;MQ=60.0;MQ0=0;QD=32.93;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGBL4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371838 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:239,18,0
1 49208618 rs1934393 G C 42.68 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.34;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGBL4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371838 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:74,6,0
1 49224584 rs3820445 G T 1975.55 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.56;MQ0=0;QD=37.99;SNPEFF_AMINO_ACID_CHANGE=R245;SNPEFF_CODON_CHANGE=Cgg/Agg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_49224572_49224956;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BEND5;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000371833 GT:AD:DP:GQ:PL 1/1:0,52:52:99:2009,147,0
1 49332724 rs6703833 A C 71.41 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.55;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.3;QD=10.2;ReadPosRankSum=-0.937;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGBL4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371836 GT:AD:DP:GQ:PL 0/1:4,3:7:99:101,0,137
1 49332969 rs61785986 A G 448.44 PASS AB=0.485;AC=1;AF=0.50;AN=2;BaseQRankSum=0.666;DB;DP=33;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=59.3;MQ0=0;MQRankSum=0.018;QD=13.59;ReadPosRankSum=0.09;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGBL4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371836 GT:AD:DP:GQ:PL 0/1:16,17:33:99:478,0,551
1 49511424 rs3934240 A G 526.39 PASS AB=0.635;AC=1;AF=0.50;AN=2;BaseQRankSum=2.641;DB;DP=52;Dels=0.0;FS=2.522;HRun=0;HaplotypeScore=0.0;MQ=59.16;MQ0=0;MQRankSum=-0.323;QD=10.12;ReadPosRankSum=-0.095;SNPEFF_AMINO_ACID_CHANGE=H136;SNPEFF_CODON_CHANGE=caT/caC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_49511256_49511472;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGBL4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000411952 GT:AD:DP:GQ:PL 0/1:33,19:52:99:556,0,1146
1 50162840 rs6689057 C T 214.15 PASS AB=0.579;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.096;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.867;QD=11.27;ReadPosRankSum=-0.619;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGBL4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371836 GT:AD:DP:GQ:PL 0/1:11,8:19:99:244,0,401
1 50310802 rs7533801 T C 4390.09 PASS AC=2;AF=1.00;AN=2;DB;DP=124;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9734;MQ=59.81;MQ0=0;QD=35.4;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGBL4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371836 GT:AD:DP:GQ:PL 1/1:0,124:124:99:4390,328,0
1 50311454 rs4926833 G A 827.21 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=2.794;DB;DP=63;Dels=0.0;FS=5.353;HRun=0;HaplotypeScore=0.0;MQ=59.63;MQ0=0;MQRankSum=1.478;QD=13.13;ReadPosRankSum=-0.672;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGBL4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371836 GT:AD:DP:GQ:PL 0/1:35,28:63:99:857,0,953
1 50572096 rs12138061 C A 495.86 PASS AB=0.608;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.06;DB;DP=51;Dels=0.0;FS=1.591;HRun=1;HaplotypeScore=0.0;MQ=59.55;MQ0=0;MQRankSum=-0.2;QD=9.72;ReadPosRankSum=0.819;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ELAVL4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357083 GT:AD:DP:GQ:PL 0/1:31,20:51:99:526,0,960
1 50661411 rs2480683 C T 2303.12 PASS AC=2;AF=1.00;AN=2;DB;DP=71;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.68;MQ0=0;QD=32.44;SNPEFF_AMINO_ACID_CHANGE=P229;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_50661233_50661458;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ELAVL4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000371823 GT:AD:DP:GQ:PL 1/1:0,71:71:99:2336,181,0
1 50661688 rs2480682 T C 89.21 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.74;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ELAVL4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357083 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:121,9,0
1 50666515 rs2494876 C T 3157.02 PASS AC=2;AF=1.00;AN=2;DB;DP=111;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9867;MQ=60.0;MQ0=0;QD=28.44;SNPEFF_AMINO_ACID_CHANGE=P270S;SNPEFF_CODON_CHANGE=Ccc/Tcc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_50666481_50667074;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ELAVL4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000371823 GT:AD:DP:GQ:PL 1/1:0,111:111:99:3190,253,0
1 50956163 rs57779128 AAAGG A 499.24 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=0.398;DB;DP=30;FS=0.0;HRun=0;HaplotypeScore=241.4591;IndelType=D;MQ=40.25;MQ0=0;MQRankSum=-1.34;QD=16.64;ReadPosRankSum=1.485;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371778 GT:AD:DP:GQ:PL 0/1:20,10:30:99:538,0,505
1 50956212 . C CAAATACAGTGG 9283.10 PASS AC=2;AF=1.00;AN=2;DP=63;FS=0.0;HRun=0;HaplotypeScore=519.0315;IndelType=I;MQ=32.63;MQ0=0;QD=147.35;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371778 GT:AD:DP:GQ:PL 1/1:37,24:63:99:9283,181,0
1 50957509 rs1149790 A T 572.49 PASS AB=0.457;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.871;DB;DP=35;Dels=0.0;FS=3.399;HRun=1;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=0.778;QD=16.36;ReadPosRankSum=0.712;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371778 GT:AD:DP:GQ:PL 0/1:16,19:35:99:602,0,491
1 51121198 rs11205753 T C 496.85 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.496;DB;DP=38;Dels=0.0;FS=5.701;HRun=0;HaplotypeScore=0.0;MQ=59.39;MQ0=0;MQRankSum=-0.088;QD=13.08;ReadPosRankSum=1.197;SNPEFF_AMINO_ACID_CHANGE=V220;SNPEFF_CODON_CHANGE=gtA/gtG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_51121114_51121200;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAF1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000371778 GT:AD:DP:GQ:PL 0/1:19,19:38:99:527,0,574
1 51180660 rs17384533 A G 775.94 PASS AB=0.316;AC=1;AF=0.50;AN=2;BaseQRankSum=0.141;DB;DP=38;Dels=0.0;FS=3.18;HRun=0;HaplotypeScore=0.0;MQ=58.78;MQ0=0;MQRankSum=0.141;QD=20.42;ReadPosRankSum=-0.298;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371778 GT:AD:DP:GQ:PL 0/1:12,26:38:99:806,0,289
1 51180704 rs77935192 C A 283.77 PASS AB=0.706;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.801;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.63;MQ0=0;MQRankSum=0.96;QD=8.35;ReadPosRankSum=-0.137;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371778 GT:AD:DP:GQ:PL 0/1:24,10:34:99:314,0,750
1 51435946 rs41285700 C T 116.29 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.72;QD=19.38;ReadPosRankSum=-0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDKN2C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000262662 GT:AD:DP:GQ:PL 0/1:2,4:6:65.23:146,0,65
1 51753812 rs635590 G A 1276.99 PASS AB=0.584;AC=1;AF=0.50;AN=2;BaseQRankSum=4.781;DB;DP=101;Dels=0.0;FS=1.814;HRun=0;HaplotypeScore=0.9159;MQ=59.5;MQ0=0;MQRankSum=-0.56;QD=12.64;ReadPosRankSum=2.606;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC39A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000525906 GT:AD:DP:GQ:PL 0/1:59,42:101:99:1307,0,1595
1 51826921 rs17567 T C 679.70 PASS AB=0.582;AC=1;AF=0.50;AN=2;BaseQRankSum=1.595;DB;DP=55;Dels=0.0;FS=3.786;HRun=0;HaplotypeScore=0.9996;MQ=60.0;MQ0=0;MQRankSum=-1.391;QD=12.36;ReadPosRankSum=-0.503;SNPEFF_AMINO_ACID_CHANGE=I499M;SNPEFF_CODON_CHANGE=atA/atG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_51826843_51827027;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPS15;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000396122 GT:AD:DP:GQ:PL 0/1:32,23:55:99:710,0,1005
1 51829823 rs72694132 A C 61.14 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=0.55;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.754;QD=8.73;ReadPosRankSum=-1.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPS15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371730 GT:AD:DP:GQ:PL 0/1:4,3:7:91.14:91,0,145
1 51873951 rs1065754 G A 2149.36 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.69;MQ0=0;QD=35.82;SNPEFF_AMINO_ACID_CHANGE=Y120;SNPEFF_CODON_CHANGE=taC/taT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_51873807_51874004;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPS15;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000396122 GT:AD:DP:GQ:PL 1/1:0,60:60:99:2182,157,0
1 51905949 rs66883041 CTGTG C 279.32 PASS AB=0.692;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.289;DB;DP=18;FS=0.0;HRun=0;HaplotypeScore=140.6977;IndelType=D;MQ=55.31;MQ0=0;MQRankSum=0.993;QD=15.52;ReadPosRankSum=-0.15;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPS15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371730 GT:AD:DP:GQ:PL 0/1:5,8:18:99:318,0,349
1 51912416 rs150480138 C T 45.77 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.89;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPS15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371730 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:77,6,0
1 51926909 rs72696156 G A 174.86 PASS AB=0.357;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.367;DB;DP=15;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9998;MQ=56.85;MQ0=0;MQRankSum=-0.689;QD=11.66;ReadPosRankSum=-0.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPS15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371727 GT:AD:DP:GQ:PL 0/1:5,9:15:99:205,0,178
1 51929504 rs11299483 TA T 425.02 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=3.046;DB;DP=40;FS=9.421;HRun=2;HaplotypeScore=102.7046;IndelType=D;MQ=59.7;MQ0=0;MQRankSum=-0.776;QD=10.63;ReadPosRankSum=0.388;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPS15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371727 GT:AD:DP:GQ:PL 0/1:24,16:40:99:464,0,900
1 52266242 rs8375 G A 1291.18 PASS AB=0.494;AC=1;AF=0.50;AN=2;BaseQRankSum=4.295;DB;DP=83;Dels=0.0;FS=0.84;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.533;QD=15.56;ReadPosRankSum=1.261;SNPEFF_AMINO_ACID_CHANGE=P239;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_52266228_52266355;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NRD1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000371665 GT:AD:DP:GQ:PL 0/1:41,42:83:99:1321,0,1080
1 52279650 rs2982846 T G 430.91 PASS AB=0.485;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.681;DB;DP=33;Dels=0.0;FS=6.139;HRun=0;HaplotypeScore=0.9958;MQ=60.0;MQ0=0;MQRankSum=-1.208;QD=13.06;ReadPosRankSum=0.982;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NRD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473805 GT:AD:DP:GQ:PL 0/1:16,17:33:99:461,0,452
1 52289220 rs67976949 TGTATTAAGGTCAA T 1244.64 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=3.802;DB;DP=21;FS=0.0;HRun=0;HaplotypeScore=247.2402;IndelType=D;MQ=51.02;MQ0=0;MQRankSum=-1.954;QD=59.27;ReadPosRankSum=1.883;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NRD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475715 GT:AD:DP:GQ:PL 0/1:9,12:21:99:1284,0,1747
1 52290984 rs11205896 T G 773.02 PASS AB=0.702;AC=1;AF=0.50;AN=2;BaseQRankSum=3.933;DB;DP=94;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9983;MQ=59.75;MQ0=0;MQRankSum=0.14;QD=8.22;ReadPosRankSum=1.404;SNPEFF_AMINO_ACID_CHANGE=G205;SNPEFF_CODON_CHANGE=ggA/ggC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_52290959_52291054;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NRD1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000544028 GT:AD:DP:GQ:PL 0/1:66,28:94:99:803,0,1862
1 52293570 rs2077725 G A 158.46 PASS AB=0.619;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.57;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.921;QD=7.55;ReadPosRankSum=0.57;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NRD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000352171 GT:AD:DP:GQ:PL 0/1:13,8:21:99:188,0,481
1 52293638 rs706495 G A 417.93 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.99;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NRD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000352171 GT:AD:DP:GQ:PL 1/1:0,11:11:33.11:451,33,0
1 52303005 rs12944 G A 150.16 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=0.322;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.322;QD=18.77;ReadPosRankSum=-1.221;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NRD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491410 GT:AD:DP:GQ:PL 0/1:3,5:8:97.51:180,0,98
1 52305664 rs7520502 G A 39.20 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=13.07;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NRD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000352171 GT:AD:DP:GQ:PL 0/1:1,2:3:25.32:69,0,25
1 52306063 rs35723519 ATCT A 858.73 PASS AB=0.69;AC=1;AF=0.50;AN=2;BaseQRankSum=4.805;DB;DP=60;FS=1.329;HRun=0;HaplotypeScore=263.057;IndelType=D;MQ=59.6;MQ0=0;MQRankSum=1.856;QD=14.31;ReadPosRankSum=-0.104;SNPEFF_AMINO_ACID_CHANGE=ED154D;SNPEFF_CODON_CHANGE=gaagat/gat;SNPEFF_EFFECT=CODON_CHANGE_PLUS_CODON_DELETION;SNPEFF_EXON_ID=exon_1_52305898_52306186;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NRD1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000352171 GT:AD:DP:GQ:PL 0/1:33,27:60:99:898,0,1579
1 52402856 rs10888741 T G 245.95 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RAB3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371655 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:279,21,0
1 52402956 rs10888742 G A 2018.74 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.14;MQ0=0;QD=37.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RAB3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371655 GT:AD:DP:GQ:PL 1/1:0,54:54:99:2052,153,0
1 52489322 rs2783178 G A 292.67 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;QD=26.61;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TXNDC12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371626 GT:AD:DP:GQ:PL 1/1:0,11:11:24.08:326,24,0
1 52490418 rs4926906 C T 38.36 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=19.18;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TXNDC12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371626 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:70,6,0
1 52517412 rs7529324 A G 2087.17 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.6;MQ0=0;QD=36.62;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TXNDC12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371626 GT:AD:DP:GQ:PL 1/1:0,57:57:99:2120,163,0
1 52530323 rs2809951 G A 114.33 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BTF3L4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313334 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:147,12,0
1 52729432 rs75677938 C G 166.09 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.271;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=57.66;MQ0=0;MQRankSum=0.898;QD=16.61;ReadPosRankSum=0.48;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZFYVE9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287727 GT:AD:DP:GQ:PL 0/1:2,8:10:47.03:196,0,47
1 52820226 rs2820334 G A 1863.46 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9469;MQ=58.63;MQ0=0;QD=36.54;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CC2D1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485966 GT:AD:DP:GQ:PL 1/1:0,49:50:99:1896,141,0
1 52912122 rs72306025 T TA 201.22 PASS AB=0.792;AC=1;AF=0.50;AN=2;BaseQRankSum=0.555;DB;DP=42;FS=0.0;HRun=11;HaplotypeScore=125.4817;IndelType=I;MQ=60.0;MQ0=0;MQRankSum=-1.071;QD=4.79;ReadPosRankSum=-0.079;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZCCHC11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000257177 GT:AD:DP:GQ:PL 0/1:30,11:42:99:240,0,375
1 52943225 rs835033 C A 39.84 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=7.97;ReadPosRankSum=0.358;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZCCHC11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473856 GT:AD:DP:GQ:PL 0/1:2,3:5:69.84:70,0,71
1 52991638 rs12123698 C T 1818.28 PASS AB=0.389;AC=1;AF=0.50;AN=2;BaseQRankSum=3.827;DB;DP=95;Dels=0.0;FS=0.802;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.255;QD=19.14;ReadPosRankSum=0.309;SNPEFF_AMINO_ACID_CHANGE=P105;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_52991235_52992045;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZCCHC11;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000257177 GT:AD:DP:GQ:PL 0/1:37,58:95:99:1848,0,1053
1 53072454 rs1970951 T C 1159.75 PASS AB=0.465;AC=1;AF=0.50;AN=2;BaseQRankSum=1.545;DB;DP=71;Dels=0.0;FS=1.029;HRun=0;HaplotypeScore=3.5884;MQ=55.63;MQ0=0;MQRankSum=0.775;QD=16.33;ReadPosRankSum=0.019;SNPEFF_AMINO_ACID_CHANGE=F79;SNPEFF_CODON_CHANGE=ttT/ttC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_53072356_53072617;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPX7;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000361314 GT:AD:DP:GQ:PL 0/1:33,38:71:99:1190,0,935
1 53072741 rs1970950 A G 460.39 PASS AB=0.543;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.844;DB;DP=35;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.8;MQ0=0;MQRankSum=0.414;QD=13.15;ReadPosRankSum=-0.348;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPX7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361314 GT:AD:DP:GQ:PL 0/1:19,16:35:99:490,0,684
1 53072796 rs1970949 G C 100.83 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.361;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=1.652;QD=11.2;ReadPosRankSum=1.159;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPX7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361314 GT:AD:DP:GQ:PL 0/1:5,4:9:99:131,0,180
1 53237526 rs1571979 G A 584.52 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.39;MQ0=0;QD=32.47;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZYG11B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294353 GT:AD:DP:GQ:PL 1/1:0,18:18:45.15:618,45,0
1 53245472 rs9661082 A T 1499.74 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.05;MQ0=0;QD=34.09;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZYG11B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294353 GT:AD:DP:GQ:PL 1/1:0,44:44:99:1533,120,0
1 53245849 rs7526275 C T 42.84 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.42;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZYG11B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294353 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:74,6,0
1 53250650 rs6588443 G A 2855.72 PASS AC=2;AF=1.00;AN=2;DB;DP=82;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9469;MQ=59.38;MQ0=0;QD=34.83;SNPEFF_AMINO_ACID_CHANGE=G398;SNPEFF_CODON_CHANGE=ggG/ggA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_53250549_53250725;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZYG11B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000294353 GT:AD:DP:GQ:PL 1/1:0,82:82:99:2889,226,0
1 53255587 rs67389144 CT C 122.87 PASS AB=0.697;AC=1;AF=0.50;AN=2;BaseQRankSum=0.531;DB;DP=23;FS=0.0;HRun=13;HaplotypeScore=120.3849;IndelType=D;MQ=56.92;MQ0=0;MQRankSum=1.184;QD=5.34;ReadPosRankSum=1.347;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZYG11B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294353 GT:AD:DP:GQ:PL 0/1:13,10:23:99:162,0,198
1 53262378 . A T 202.82 PASS AB=0.692;AC=1;AF=0.50;AN=2;BaseQRankSum=1.139;DP=26;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9578;MQ=60.0;MQ0=0;MQRankSum=-0.028;QD=7.8;ReadPosRankSum=-0.694;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZYG11B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294353 GT:AD:DP:GQ:PL 0/1:18,8:26:99:233,0,672
1 53282077 rs12733669 A G 185.13 PASS AB=0.65;AC=1;AF=0.50;AN=2;BaseQRankSum=1.823;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.713;QD=9.26;ReadPosRankSum=-1.03;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZYG11B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294353 GT:AD:DP:GQ:PL 0/1:13,7:20:99:215,0,452
1 53286967 rs12731800 A G 42.37 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=10.59;ReadPosRankSum=1.026;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZYG11B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000545132 GT:AD:DP:GQ:PL 0/1:2,2:4:69.04:72,0,69
1 53320274 rs480299 G T 1319.22 PASS AB=0.443;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.179;DB;DP=79;Dels=0.0;FS=3.404;HRun=0;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=-0.035;QD=16.7;ReadPosRankSum=-1.041;SNPEFF_AMINO_ACID_CHANGE=E76D;SNPEFF_CODON_CHANGE=gaG/gaT;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_53320137_53320302;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZYG11A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000371528 GT:AD:DP:GQ:PL 0/1:35,44:79:99:1349,0,1112
1 53323492 rs10788945 C A 1158.58 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=39.95;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZYG11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371528 GT:AD:DP:GQ:PL 1/1:0,29:29:87.29:1192,87,0
1 53323571 rs11206035 T C 103.55 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=0.876;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.361;QD=11.51;ReadPosRankSum=1.652;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZYG11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371528 GT:AD:DP:GQ:PL 0/1:5,4:9:99:134,0,167
1 53326210 rs546334 T C 101.87 PASS AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.04;MQ0=0;MQRankSum=0.736;QD=16.98;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZYG11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371528 GT:AD:DP:GQ:PL 0/1:1,5:6:24.96:132,0,25
1 53333116 rs557847 A G 295.83 PASS AB=0.476;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.908;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.162;QD=14.09;ReadPosRankSum=-0.458;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZYG11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371528 GT:AD:DP:GQ:PL 0/1:10,11:21:99:326,0,354
1 53351349 rs10581739 ATT A 303.87 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=3.366;DB;DP=16;FS=0.0;HRun=2;HaplotypeScore=49.3312;IndelType=D;MQ=59.92;MQ0=0;MQRankSum=0.209;QD=18.99;ReadPosRankSum=-0.993;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZYG11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371528 GT:AD:DP:GQ:PL 0/1:8,8:16:99:343,0,382
1 53364976 rs576891 A G 264.49 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.618;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.971;QD=14.69;ReadPosRankSum=-0.706;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZYG11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371528 GT:AD:DP:GQ:PL 0/1:9,9:18:99:294,0,279
1 53513437 rs1288362 T C 115.57 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.638;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.922;QD=14.45;ReadPosRankSum=-0.922;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371509 GT:AD:DP:GQ:PL 0/1:4,4:8:99:146,0,141
1 53535493 rs41313375 C G 37.27 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=12.42;ReadPosRankSum=0.736;SNPEFF_AMINO_ACID_CHANGE=P18R;SNPEFF_CODON_CHANGE=cCa/cGa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_53535473_53535839;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PODN;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000371500 GT:AD:DP:GQ:PL 0/1:1,2:3:33.62:67,0,34
1 53543112 rs946590 C G 806.31 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9159;MQ=60.0;MQ0=0;QD=33.6;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PODN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471210 GT:AD:DP:GQ:PL 1/1:0,24:24:69.18:839,69,0
1 53543312 rs12745973 C T 731.82 PASS AB=0.628;AC=1;AF=0.50;AN=2;BaseQRankSum=0.499;DB;DP=78;Dels=0.0;FS=3.294;HRun=1;HaplotypeScore=0.0;MQ=59.41;MQ0=0;MQRankSum=1.193;QD=9.38;ReadPosRankSum=0.878;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PODN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471210 GT:AD:DP:GQ:PL 0/1:49,29:78:99:762,0,1515
1 53544439 rs1288388 G A 1773.75 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.739;DB;DP=119;Dels=0.0;FS=0.826;HRun=0;HaplotypeScore=2.0641;MQ=59.81;MQ0=0;MQRankSum=-0.407;QD=14.91;ReadPosRankSum=0.489;SNPEFF_AMINO_ACID_CHANGE=P325;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_53544037_53544694;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PODN;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000395871 GT:AD:DP:GQ:PL 0/1:56,63:119:99:1804,0,1598
1 53544578 rs11206088 T C 236.14 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.109;DB;DP=14;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.193;QD=16.87;ReadPosRankSum=0.0;SNPEFF_AMINO_ACID_CHANGE=L372;SNPEFF_CODON_CHANGE=Ttg/Ctg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_53544037_53544694;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PODN;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000395871 GT:AD:DP:GQ:PL 0/1:6,8:14:99:266,0,206
1 53544597 rs1288389 T C 253.16 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.64;SNPEFF_AMINO_ACID_CHANGE=V378A;SNPEFF_CODON_CHANGE=gTg/gCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_53544037_53544694;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PODN;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000395871 GT:AD:DP:GQ:PL 1/1:0,8:8:24.07:286,24,0
1 53553702 rs1288400 A G 710.57 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.99;MQ0=0;QD=30.89;SNPEFF_AMINO_ACID_CHANGE=S554;SNPEFF_CODON_CHANGE=agT/agC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_53552855_53553899;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC1A7;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000371494 GT:AD:DP:GQ:PL 1/1:0,23:23:66.14:744,66,0
1 53553714 rs140010762 G A 253.99 PASS AB=0.655;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.168;DB;DP=29;Dels=0.0;FS=1.531;HRun=0;HaplotypeScore=2.5584;MQ=58.55;MQ0=0;MQRankSum=0.839;QD=8.76;ReadPosRankSum=-0.647;SNPEFF_AMINO_ACID_CHANGE=T550;SNPEFF_CODON_CHANGE=acC/acT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_53552855_53553899;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC1A7;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000371494 GT:AD:DP:GQ:PL 0/1:19,10:29:99:284,0,585
1 53553754 rs1288401 T C 111.22 PASS AB=0.767;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.503;DB;DP=30;Dels=0.0;FS=1.737;HRun=2;HaplotypeScore=0.0;MQ=59.38;MQ0=0;MQRankSum=1.402;QD=3.71;ReadPosRankSum=0.229;SNPEFF_AMINO_ACID_CHANGE=Q537R;SNPEFF_CODON_CHANGE=cAg/cGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_53552855_53553899;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC1A7;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000371494 GT:AD:DP:GQ:PL 0/1:23,7:30:99:141,0,655
1 53554457 . A G 58.28 MQFilter40 AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.727;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=39.12;MQ0=0;MQRankSum=-0.727;QD=14.57;ReadPosRankSum=0.727;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PODN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000312553 GT:AD:DP:GQ:PL 0/1:1,3:4:27.97:88,0,28
1 53554533 rs35707549 A AT 329.77 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.034;DB;DP=12;FS=0.0;HRun=1;HaplotypeScore=23.4453;IndelType=I;MQ=53.95;MQ0=0;MQRankSum=-0.37;QD=27.48;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PODN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000312553 GT:AD:DP:GQ:PL 0/1:3,9:12:80.81:369,0,81
1 53558270 rs1288406 A G 503.85 PASS AB=0.321;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.279;DB;DP=28;Dels=0.0;FS=1.631;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.689;QD=17.99;ReadPosRankSum=1.033;SNPEFF_AMINO_ACID_CHANGE=R329;SNPEFF_CODON_CHANGE=cgT/cgC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_53558226_53558459;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC1A7;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000371494 GT:AD:DP:GQ:PL 0/1:9,19:28:99:534,0,250
1 53568980 rs2242274 G A 148.58 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=1.453;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.29;MQ0=0;MQRankSum=0.336;QD=13.51;ReadPosRankSum=1.098;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC1A7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371491 GT:AD:DP:GQ:PL 0/1:6,5:11:99:179,0,118
1 53571288 rs1288422 C G 615.49 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.19;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC1A7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371491 GT:AD:DP:GQ:PL 1/1:0,18:18:51.14:648,51,0
1 53574076 rs1679938 G A 189.89 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.355;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.53;QD=12.66;ReadPosRankSum=0.295;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC1A7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371494 GT:AD:DP:GQ:PL 0/1:6,9:15:99:220,0,199
1 53574123 rs1769289 C T 984.73 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.47;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC1A7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371494 GT:AD:DP:GQ:PL 1/1:0,27:27:75.23:1018,75,0
1 53600078 rs3737989 A G 132.93 PASS AB=0.692;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.361;DB;DP=27;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=3.6993;MQ=59.14;MQ0=0;MQRankSum=-0.472;QD=4.92;ReadPosRankSum=0.139;SNPEFF_AMINO_ACID_CHANGE=P53;SNPEFF_CODON_CHANGE=ccT/ccC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_53600022_53600101;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC1A7;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000371491 GT:AD:DP:GQ:PL 0/1:18,8:27:99:163,0,569
1 53675532 rs12737375 T C 60.82 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=1.203;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.573;QD=6.76;ReadPosRankSum=0.573;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf123;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294360 GT:AD:DP:GQ:PL 0/1:6,3:9:90.81:91,0,211
1 53676448 rs1799821 G A 1251.82 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.93;SNPEFF_AMINO_ACID_CHANGE=V368I;SNPEFF_CODON_CHANGE=Gtc/Atc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_53675687_53676991;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CPT2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000371486 GT:AD:DP:GQ:PL 1/1:0,33:33:96.29:1285,96,0
1 53679229 rs1799822 A G 312.89 PASS AB=0.727;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.066;DB;DP=45;Dels=0.0;FS=1.539;HRun=0;HaplotypeScore=3.9444;MQ=60.0;MQ0=0;MQRankSum=-0.04;QD=6.95;ReadPosRankSum=-0.672;SNPEFF_AMINO_ACID_CHANGE=M647V;SNPEFF_CODON_CHANGE=Atg/Gtg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_53678936_53679869;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CPT2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000371486 GT:AD:DP:GQ:PL 0/1:32,12:45:99:343,0,1010
1 53680090 rs1056425 G A 41.90 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.95;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf123;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371480 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:73,6,0
1 53681699 rs1134688 T G 1996.09 PASS AB=0.584;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.951;DB;DP=174;Dels=0.0;FS=7.2;HRun=1;HaplotypeScore=4.67;MQ=59.87;MQ0=0;MQRankSum=1.218;QD=11.47;ReadPosRankSum=1.361;SNPEFF_AMINO_ACID_CHANGE=Q103P;SNPEFF_CODON_CHANGE=cAg/cCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_53681663_53681728;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf123;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000371480 GT:AD:DP:GQ:PL 0/1:101,72:174:99:2026,0,2715
1 53684525 rs436887 C G 1006.13 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.75;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf123;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474227 GT:AD:DP:GQ:PL 1/1:0,35:35:84.25:1039,84,0
1 53694388 rs2275087 T C 149.94 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.589;QD=18.74;ReadPosRankSum=1.589;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAGOH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462941 GT:AD:DP:GQ:PL 0/1:2,6:8:61.34:180,0,61
1 53699129 rs17192655 G C 399.07 PASS AB=0.516;AC=1;AF=0.50;AN=2;BaseQRankSum=0.52;DB;DP=31;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.5;MQ0=0;MQRankSum=-0.021;QD=12.87;ReadPosRankSum=1.559;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAGOH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371466 GT:AD:DP:GQ:PL 0/1:16,15:31:99:429,0,526
1 53712727 rs5174 C T 175.41 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.196;DB;DP=20;Dels=0.0;FS=4.415;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.733;QD=8.77;ReadPosRankSum=0.733;SNPEFF_AMINO_ACID_CHANGE=R446Q;SNPEFF_CODON_CHANGE=cGa/cAa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_53712240_53712728;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP8;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000465675 GT:AD:DP:GQ:PL 0/1:12,8:20:99:205,0,338
1 53716416 rs3737983 G A 1138.07 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=3.764;DB;DP=60;Dels=0.0;FS=1.053;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.66;QD=18.97;ReadPosRankSum=0.18;SNPEFF_AMINO_ACID_CHANGE=D427;SNPEFF_CODON_CHANGE=gaC/gaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_53716362_53716534;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP8;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000465675 GT:AD:DP:GQ:PL 0/1:25,35:60:99:1168,0,706
1 53732315 rs2297660 G T 570.17 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.367;DB;DP=40;Dels=0.0;FS=1.171;HRun=2;HaplotypeScore=0.9983;MQ=60.0;MQ0=0;MQRankSum=1.826;QD=14.25;ReadPosRankSum=-0.014;SNPEFF_AMINO_ACID_CHANGE=G249;SNPEFF_CODON_CHANGE=ggC/ggA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_53732145_53732319;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP8;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000347547 GT:AD:DP:GQ:PL 0/1:20,20:40:99:600,0,649
1 53736613 rs7542607 A G 161.57 PASS AB=0.652;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.195;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=60.0;MQ0=0;MQRankSum=-0.355;QD=7.02;ReadPosRankSum=-2.098;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000306052 GT:AD:DP:GQ:PL 0/1:15,8:23:99:192,0,511
1 53746134 rs1288518 G A 39.38 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=7.88;ReadPosRankSum=0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000306052 GT:AD:DP:GQ:PL 0/1:3,2:5:69.37:69,0,85
1 53974987 rs10749691 G T 93.33 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.33;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GLIS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000312233 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:125,9,0
1 53990321 rs541224 C T 180.80 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.83;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GLIS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000312233 GT:AD:DP:GQ:PL 1/1:0,7:7:18.04:214,18,0
1 53990569 . T TG 326.83 PASS AB=0.707;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.416;DP=29;FS=0.0;HRun=6;HaplotypeScore=60.7148;IndelType=I;MQ=60.0;MQ0=0;MQRankSum=1.244;QD=11.27;ReadPosRankSum=0.366;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GLIS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000312233 GT:AD:DP:GQ:PL 0/1:17,12:29:99:366,0,378
1 53990715 rs492600 T C 67.26 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.42;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GLIS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000312233 GT:AD:DP:GQ:PL 1/1:0,3:3:9.02:99,9,0
1 53995415 . T G 30.92 QDFilter2 AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.219;DP=21;Dels=0.0;FS=15.441;HRun=2;HaplotypeScore=1.4105;MQ=57.77;MQ0=0;MQRankSum=-0.361;QD=1.47;ReadPosRankSum=2.219;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GLIS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000312233 GT:AD:DP:GQ:PL 0/1:6,15:21:60.91:61,0,142
1 54060016 rs35227000 G C 263 PASS AB=0.476;AC=1;AF=0.50;AN=2;BaseQRankSum=0.317;DB;DP=21;Dels=0.0;FS=1.74;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.88;QD=12.52;ReadPosRankSum=-0.246;SNPEFF_AMINO_ACID_CHANGE=A187G;SNPEFF_CODON_CHANGE=gCa/gGa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_54059781_54060663;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GLIS1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000312233 GT:AD:DP:GQ:PL 0/1:10,11:21:99:293,0,337
1 54060248 rs4307514 T C 301.22 PASS AB=0.517;AC=1;AF=0.50;AN=2;BaseQRankSum=1.927;DB;DP=29;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.952;QD=10.39;ReadPosRankSum=-0.268;SNPEFF_AMINO_ACID_CHANGE=T110A;SNPEFF_CODON_CHANGE=Acg/Gcg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_54059781_54060663;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GLIS1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000312233 GT:AD:DP:GQ:PL 0/1:15,14:29:99:331,0,491
1 54331763 rs1883453 A G 222.34 PASS AB=0.357;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.067;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.467;QD=15.88;ReadPosRankSum=-1.2;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=YIPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000412288 GT:AD:DP:GQ:PL 0/1:5,9:14:99:252,0,161
1 54344282 rs2272928 C A 176.27 PASS AB=0.72;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.725;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.059;QD=7.05;ReadPosRankSum=-1.543;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=YIPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000072644 GT:AD:DP:GQ:PL 0/1:18,7:25:99:206,0,631
1 54370306 rs2294512 G A 1162.57 PASS AB=0.54;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.171;DB;DP=87;Dels=0.0;FS=1.039;HRun=0;HaplotypeScore=0.0;MQ=59.47;MQ0=0;MQRankSum=0.992;QD=13.36;ReadPosRankSum=0.328;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=DIO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000322679 GT:AD:DP:GQ:PL 0/1:47,40:87:99:1193,0,1474
1 54375570 rs2235544 C A 366.36 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=1.434;DB;DP=30;Dels=0.0;FS=4.228;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.312;QD=12.21;ReadPosRankSum=-0.353;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=DIO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000529589 GT:AD:DP:GQ:PL 0/1:16,14:30:99:396,0,507
1 54474472 rs6672989 T C 33.40 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=1.495;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.28;MQ0=0;MQRankSum=0.198;QD=4.77;ReadPosRankSum=1.495;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LDLRAD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371360 GT:AD:DP:GQ:PL 0/1:5,2:7:63.39:63,0,181
1 54477726 rs55766128 T G 46.66 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.727;QD=11.66;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LDLRAD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371360 GT:AD:DP:GQ:PL 0/1:1,3:4:28.63:77,0,29
1 54483694 rs34764952 C T 403.62 PASS AB=0.44;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.246;DB;DP=25;Dels=0.0;FS=3.624;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.027;QD=16.14;ReadPosRankSum=0.63;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LDLRAD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371360 GT:AD:DP:GQ:PL 0/1:11,14:25:99:434,0,362
1 54502266 . G GTC 800.54 PASS AB=0.825;AC=1;AF=0.50;AN=2;BaseQRankSum=4.551;DP=66;FS=7.961;HRun=0;HaplotypeScore=386.5939;IndelType=I;MQ=52.49;MQ0=0;MQRankSum=-5.214;QD=12.13;ReadPosRankSum=-0.555;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM59;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420738 GT:AD:DP:GQ:PL 0/1:52,12:66:99:840,0,1765
1 54502268 rs66670965 A AAGGGTT 2128.98 PASS AB=0.827;AC=1;AF=0.50;AN=2;BaseQRankSum=5.078;DB;DP=67;FS=5.3;HRun=0;HaplotypeScore=435.6268;IndelType=I;MQ=52.61;MQ0=0;MQRankSum=-4.778;QD=31.78;ReadPosRankSum=-2.7;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM59;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420738 GT:AD:DP:GQ:PL 0/1:53,13:67:99:2168,0,2511
1 54511200 rs41538044 A G 552.50 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.261;DB;DP=44;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=-0.177;QD=12.56;ReadPosRankSum=0.153;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM59;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234831 GT:AD:DP:GQ:PL 0/1:24,20:44:99:582,0,868
1 54519800 rs74085143 G A 38.34 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=12.78;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TCEANC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234827 GT:AD:DP:GQ:PL 0/1:1,2:3:31.62:68,0,32
1 54561916 rs7555099 C T 687.41 PASS AB=0.558;AC=1;AF=0.50;AN=2;BaseQRankSum=1.732;DB;DP=52;Dels=0.0;FS=1.174;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.234;QD=13.22;ReadPosRankSum=0.147;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TCEANC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234827 GT:AD:DP:GQ:PL 0/1:29,23:52:99:717,0,952
1 54605318 rs76608277 T TGG 829.53 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.502;DB;DP=32;FS=0.0;HRun=8;HaplotypeScore=129.1457;IndelType=I;MQ=60.0;MQ0=0;MQRankSum=1.386;QD=25.92;ReadPosRankSum=0.231;SNPEFF_EFFECT=FRAME_SHIFT;SNPEFF_EXON_ID=exon_1_54604668_54605779;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CDCP2;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000371330 GT:AD:DP:GQ:PL 1/1:3,16:32:79.13:872,79,0
1 54606804 rs3766465 C T 442.75 PASS AB=0.348;AC=1;AF=0.50;AN=2;BaseQRankSum=1.057;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.7542;MQ=60.0;MQ0=0;MQRankSum=1.48;QD=19.25;ReadPosRankSum=1.833;SNPEFF_AMINO_ACID_CHANGE=G244R;SNPEFF_CODON_CHANGE=Gga/Aga;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_54606771_54607106;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CDCP2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000371330 GT:AD:DP:GQ:PL 0/1:8,15:23:99:473,0,169
1 54607051 rs671103 A G 751.35 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.67;SNPEFF_AMINO_ACID_CHANGE=Y161;SNPEFF_CODON_CHANGE=taT/taC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_54606771_54607106;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CDCP2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000371330 GT:AD:DP:GQ:PL 1/1:0,23:23:60.18:784,60,0
1 54607157 rs671539 G A 93.77 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.72;QD=15.63;ReadPosRankSum=1.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CDCP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371330 GT:AD:DP:GQ:PL 0/1:2,4:6:54.74:124,0,55
1 54618435 rs7528345 A T 455.90 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=30;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9332;MQ=58.45;MQ0=0;MQRankSum=-0.686;QD=15.2;ReadPosRankSum=-1.559;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CDCP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371330 GT:AD:DP:GQ:PL 0/1:14,16:30:99:486,0,441
1 54681920 rs13571 G C 1759.39 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.19;SNPEFF_AMINO_ACID_CHANGE=C235S;SNPEFF_CODON_CHANGE=tGt/tCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_54681814_54682017;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MRPL37;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000336230 GT:AD:DP:GQ:PL 1/1:0,50:50:99:1792,135,0
1 54686374 rs612711 T C 1150.02 PASS AB=0.46;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.021;DB;DP=88;Dels=0.0;FS=3.219;HRun=1;HaplotypeScore=4.3284;MQ=59.74;MQ0=0;MQRankSum=-1.741;QD=13.07;ReadPosRankSum=0.242;SNPEFF_AMINO_ACID_CHANGE=L366;SNPEFF_CODON_CHANGE=Ttg/Ctg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_54686284_54686529;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MRPL37;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000329505 GT:AD:DP:GQ:PL 0/1:40,47:88:99:1180,0,1203
1 54704567 rs11206312 A G 284.77 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.89;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SSBP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420121 GT:AD:DP:GQ:PL 1/1:0,11:11:30.05:318,30,0
1 54704629 rs2274664 C T 272.94 PASS AB=0.607;AC=1;AF=0.50;AN=2;BaseQRankSum=0.894;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.141;QD=9.75;ReadPosRankSum=-1.317;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SSBP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420121 GT:AD:DP:GQ:PL 0/1:17,11:28:99:303,0,615
1 54706733 rs2297027 A G 203.97 PASS AB=0.438;AC=1;AF=0.50;AN=2;BaseQRankSum=2.627;DB;DP=16;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.6651;MQ=55.52;MQ0=0;MQRankSum=0.555;QD=12.75;ReadPosRankSum=-0.377;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf191;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361350 GT:AD:DP:GQ:PL 0/1:7,9:16:99:234,0,191
1 54707604 . T C 33.24 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.937;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.62;MQ0=0;MQRankSum=0.0;QD=4.75;ReadPosRankSum=1.754;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf191;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361350 GT:AD:DP:GQ:PL 0/1:4,3:7:63.23:63,0,150
1 54946982 rs12030551 T C 148.37 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=0.729;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.876;QD=16.49;ReadPosRankSum=1.652;SNPEFF_EFFECT=INTERGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 0/1:4,5:9:99:178,0,127
1 55060047 rs11206392 T C 49.99 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=49.84;MQ0=0;QD=25.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ACOT11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343744 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
1 55067185 . G A 32.45 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.956;DP=8;Dels=0.0;FS=4.26;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.322;QD=4.06;ReadPosRankSum=-1.221;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ACOT11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479837 GT:AD:DP:GQ:PL 0/1:5,3:8:62.44:62,0,175
1 55069790 rs892446 C A 45.87 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.93;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ACOT11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479837 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:77,6,0
1 55069986 rs746503 T C 1072.88 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.4;MQ0=0;QD=34.61;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ACOT11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479837 GT:AD:DP:GQ:PL 1/1:0,31:31:81.27:1106,81,0
1 55071024 rs1655532 T G 77.09 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.7;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM151A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294370 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:109,9,0
1 55072726 rs1616691 T C 338.41 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.76;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM151A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294370 GT:AD:DP:GQ:PL 1/1:0,11:11:27.09:371,27,0
1 55074463 rs1655530 T C 93.72 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.74;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM151A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294370 GT:AD:DP:GQ:PL 1/1:0,5:5:9.03:126,9,0
1 55074840 rs1617287 T A 1051.95 PASS AB=0.529;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.536;DB;DP=87;Dels=0.0;FS=3.027;HRun=0;HaplotypeScore=3.3572;MQ=58.93;MQ0=0;MQRankSum=-0.355;QD=12.09;ReadPosRankSum=-0.553;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM151A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294370 GT:AD:DP:GQ:PL 0/1:46,41:87:99:1082,0,1489
1 55075452 rs1368883 G A 465.54 PASS AB=0.452;AC=1;AF=0.50;AN=2;BaseQRankSum=0.042;DB;DP=31;Dels=0.0;FS=3.722;HRun=0;HaplotypeScore=0.7887;MQ=59.25;MQ0=0;MQRankSum=0.042;QD=15.02;ReadPosRankSum=-0.586;SNPEFF_AMINO_ACID_CHANGE=A416V;SNPEFF_CODON_CHANGE=gCg/gTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_55074855_55075614;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM151A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000302250 GT:AD:DP:GQ:PL 0/1:14,17:31:99:496,0,281
1 55078046 rs1655528 T C 52.75 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.37;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ACOT11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343744 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
1 55080612 rs112970628 G GGTGTGT 445.07 PASS AC=2;AF=1.00;AN=2;DB;DP=9;FS=0.0;HRun=0;HaplotypeScore=81.7503;IndelType=I;MQ=55.8;MQ0=0;QD=49.45;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ACOT11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343744 GT:AD:DP:GQ:PL 1/1:4,4:9:18.06:487,18,0
1 55080629 rs1702015 A G 72.61 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=49.64;MQ0=0;QD=14.52;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ACOT11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343744 GT:AD:DP:GQ:PL 1/1:0,5:5:9.01:105,9,0
1 55080635 rs1655525 G A 68.53 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=49.64;MQ0=0;QD=13.71;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ACOT11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343744 GT:AD:DP:GQ:PL 1/1:0,5:5:9.01:101,9,0
1 55085499 rs11206396 T C 303.69 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.734;DB;DP=35;Dels=0.0;FS=1.478;HRun=3;HaplotypeScore=0.9469;MQ=60.0;MQ0=0;MQRankSum=0.926;QD=8.68;ReadPosRankSum=-1.532;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ACOT11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371316 GT:AD:DP:GQ:PL 0/1:21,14:35:99:334,0,731
1 55085684 . GA G 506.98 PASS AB=0.673;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.328;DP=37;FS=0.0;HRun=2;HaplotypeScore=201.5684;IndelType=D;MQ=60.0;MQ0=0;MQRankSum=-1.363;QD=13.7;ReadPosRankSum=0.362;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ACOT11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371316 GT:AD:DP:GQ:PL 0/1:19,18:37:99:546,0,617
1 55085703 rs11583256 G T 328.05 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.014;DB;DP=28;Dels=0.0;FS=2.251;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.286;QD=11.72;ReadPosRankSum=0.364;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ACOT11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371316 GT:AD:DP:GQ:PL 0/1:14,14:28:99:358,0,468
1 55118566 rs1655520 C G 2154.44 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=59.63;MQ0=0;QD=34.2;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=HEATR8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409996 GT:AD:DP:GQ:PL 1/1:0,63:63:99:2187,172,0
1 55119289 rs9332417 G C 2548.97 PASS AC=2;AF=1.00;AN=2;DB;DP=70;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;QD=36.41;SNPEFF_AMINO_ACID_CHANGE=L230;SNPEFF_CODON_CHANGE=ctG/ctC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_55118526_55119830;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=HEATR8;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000339553 GT:AD:DP:GQ:PL 1/1:0,70:70:99:2582,187,0
1 55119534 rs17399810 C T 3358.77 PASS AC=2;AF=1.00;AN=2;DB;DP=95;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=3.5178;MQ=59.51;MQ0=0;QD=35.36;SNPEFF_AMINO_ACID_CHANGE=S312F;SNPEFF_CODON_CHANGE=tCc/tTc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_55118526_55119830;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=HEATR8;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000339553 GT:AD:DP:GQ:PL 1/1:0,95:95:99:3359,250,0
1 55119546 rs1655518 A G 3104.23 PASS AC=2;AF=1.00;AN=2;DB;DP=92;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.5184;MQ=59.5;MQ0=0;QD=33.74;SNPEFF_AMINO_ACID_CHANGE=E316G;SNPEFF_CODON_CHANGE=gAg/gGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_55118526_55119830;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=HEATR8;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000339553 GT:AD:DP:GQ:PL 1/1:0,92:92:99:3137,235,0
1 55130931 rs2078273 C T 151.36 PASS AB=0.619;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.582;DB;DP=21;Dels=0.0;FS=4.481;HRun=0;HaplotypeScore=0.0;MQ=58.89;MQ0=0;MQRankSum=-0.27;QD=7.21;ReadPosRankSum=-0.656;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=HEATR8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472987 GT:AD:DP:GQ:PL 0/1:13,8:21:99:181,0,408
1 55130946 rs6703113 G C 132.29 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.163;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.55;MQ0=0;MQRankSum=0.38;QD=8.27;ReadPosRankSum=-1.03;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=HEATR8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472987 GT:AD:DP:GQ:PL 0/1:10,6:16:99:162,0,337
1 55130972 rs471724 C T 87.88 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.368;QD=9.76;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=HEATR8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472987 GT:AD:DP:GQ:PL 0/1:5,4:9:99:118,0,134
1 55134379 rs627095 C T 431.41 PASS AB=0.235;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.001;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.057;QD=25.38;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=HEATR8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472987 GT:AD:DP:GQ:PL 0/1:4,13:17:99:461,0,115
1 55139618 rs571199 G A 269.59 PASS AB=0.565;AC=1;AF=0.50;AN=2;BaseQRankSum=3.256;DB;DP=23;Dels=0.0;FS=5.328;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.093;QD=11.72;ReadPosRankSum=0.589;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=HEATR8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478097 GT:AD:DP:GQ:PL 0/1:13,10:23:99:300,0,373
1 55139741 rs570218 A G 784.16 PASS AB=0.483;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.346;DB;DP=60;Dels=0.0;FS=2.182;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.76;QD=13.07;ReadPosRankSum=0.917;SNPEFF_AMINO_ACID_CHANGE=H136R;SNPEFF_CODON_CHANGE=cAc/cGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_55139689_55139824;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=HEATR8;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000454855 GT:AD:DP:GQ:PL 0/1:29,31:60:99:814,0,899
1 55145897 rs17396131 G A 32.11 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.231;QD=6.42;ReadPosRankSum=-0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=HEATR8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000339553 GT:AD:DP:GQ:PL 0/1:3,2:5:62.10:62,0,111
1 55167773 rs646356 T A 501.06 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.47;SNPEFF_AMINO_ACID_CHANGE=V1099D;SNPEFF_CODON_CHANGE=gTc/gAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_55167763_55167918;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=HEATR8;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000421030 GT:AD:DP:GQ:PL 1/1:0,17:17:39.13:534,39,0
1 55172201 . A G 1000.96 PASS AB=0.506;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.271;DP=81;Dels=0.0;FS=2.191;HRun=0;HaplotypeScore=1.4679;MQ=60.0;MQ0=0;MQRankSum=-0.454;QD=12.36;ReadPosRankSum=-0.056;SNPEFF_AMINO_ACID_CHANGE=M1220V;SNPEFF_CODON_CHANGE=Atg/Gtg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_55172108_55172210;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=HEATR8;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000421030 GT:AD:DP:GQ:PL 0/1:41,40:81:99:1031,0,1322
1 55251689 rs586462 T C 1012.86 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.2;MQ0=0;QD=34.93;SNPEFF_AMINO_ACID_CHANGE=E110;SNPEFF_CODON_CHANGE=gaA/gaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_55251656_55251817;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC22;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000448308 GT:AD:DP:GQ:PL 1/1:0,29:29:78.22:1046,78,0
1 55253433 rs146222875 C T 382.56 PASS AB=0.423;AC=1;AF=0.50;AN=2;BaseQRankSum=0.052;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.38;MQ0=0;MQRankSum=-0.83;QD=14.71;ReadPosRankSum=2.387;SNPEFF_AMINO_ACID_CHANGE=T11;SNPEFF_CODON_CHANGE=acG/acA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_55253384_55253465;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC22;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000448308 GT:AD:DP:GQ:PL 0/1:11,15:26:99:413,0,321
1 55253575 rs665118 T C 482.89 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.84;MQ0=0;QD=24.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC22;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371274 GT:AD:DP:GQ:PL 1/1:0,20:20:45.12:516,45,0
1 55266845 rs1147984 C T 361.39 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.14;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf177;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358193 GT:AD:DP:GQ:PL 1/1:0,10:10:30.10:394,30,0
1 55271774 rs757581 A G 31.76 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=10.59;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf177;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371273 GT:AD:DP:GQ:PL 1/1:0,3:3:6:63,6,0
1 55272481 rs685648 T C 93.49 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.16;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf177;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358193 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:126,9,0
1 55273580 rs9782980 G T 2776.01 PASS AC=2;AF=1.00;AN=2;DB;DP=84;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9497;MQ=59.73;MQ0=0;QD=33.05;SNPEFF_AMINO_ACID_CHANGE=G126C;SNPEFF_CODON_CHANGE=Ggc/Tgc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_55273562_55273684;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf177;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000358193 GT:AD:DP:GQ:PL 1/1:0,83:84:99:2809,208,0
1 55277430 rs10788986 T A 650.21 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=51.77;MQ0=0;QD=30.96;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf177;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358193 GT:AD:DP:GQ:PL 1/1:0,21:21:54.16:683,54,0
1 55277599 rs600499 T C 1252.88 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.32;SNPEFF_AMINO_ACID_CHANGE=Y205H;SNPEFF_CODON_CHANGE=Tat/Cat;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_55277467_55277604;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf177;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000358193 GT:AD:DP:GQ:PL 1/1:0,40:40:96.31:1286,96,0
1 55282556 rs733168 A G 437.92 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.49;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf177;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358193 GT:AD:DP:GQ:PL 1/1:0,12:12:36.09:471,36,0
1 55282979 rs4926657 A C 40.14 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf177;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358193 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:71,6,0
1 55319902 rs718265 A G 456.93 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=58.45;MQ0=0;QD=30.46;SNPEFF_AMINO_ACID_CHANGE=I126;SNPEFF_CODON_CHANGE=atT/atC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_55319710_55319907;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DHCR24;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000537443 GT:AD:DP:GQ:PL 1/1:0,15:15:36.12:490,36,0
1 55330966 rs611057 T C 357.44 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.49;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DHCR24;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371269 GT:AD:DP:GQ:PL 1/1:0,11:11:30.09:390,30,0
1 55336950 rs608458 C G 289.16 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.92;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DHCR24;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371269 GT:AD:DP:GQ:PL 1/1:0,10:10:27.06:322,27,0
1 55457337 rs2500325 A G 263.66 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM61;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371268 GT:AD:DP:GQ:PL 1/1:0,9:9:27.07:297,27,0
1 55457710 rs2500326 G A 2305.57 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9734;MQ=60.0;MQ0=0;QD=34.93;SNPEFF_AMINO_ACID_CHANGE=A189;SNPEFF_CODON_CHANGE=gcG/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_55457509_55457966;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM61;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000371268 GT:AD:DP:GQ:PL 1/1:0,66:66:99:2339,169,0
1 55457815 rs2495513 C T 1422.88 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9789;MQ=59.53;MQ0=0;QD=29.04;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM61;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371268 GT:AD:DP:GQ:PL 1/1:0,49:49:99:1456,105,0
1 55464743 rs2500340 T C 169.37 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.23;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_1_55464606_55465036;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BSND;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371265 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:202,15,0
1 55464790 rs2500341 C G 790.35 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.95;MQ0=0;QD=35.92;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_1_55464606_55465036;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BSND;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000371265 GT:AD:DP:GQ:PL 1/1:0,22:22:63.19:823,63,0
1 55505732 rs2495482 A G 75.21 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PCSK9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302118 GT:AD:DP:GQ:PL 1/1:0,3:3:9.02:107,9,0
1 55509355 rs2495480 C T 86.60 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PCSK9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302118 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:119,9,0
1 55511995 rs644000 A G 137.09 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=1.92;DB;DP=8;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.92;QD=17.14;ReadPosRankSum=1.92;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PCSK9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302118 GT:AD:DP:GQ:PL 0/1:3,5:8:94.14:167,0,94
1 55512549 rs499718 T C 191.46 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PCSK9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302118 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:224,18,0
1 55517861 rs613855 C G 594.18 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.783;DB;DP=35;Dels=0.0;FS=5.34;HRun=1;HaplotypeScore=1.575;MQ=59.47;MQ0=0;MQRankSum=0.517;QD=16.98;ReadPosRankSum=-0.383;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PCSK9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302118 GT:AD:DP:GQ:PL 0/1:15,20:35:99:624,0,472
1 55517883 rs624612 C G 609.03 PASS AB=0.439;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.98;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.3149;MQ=59.54;MQ0=0;MQRankSum=-0.749;QD=14.85;ReadPosRankSum=0.066;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PCSK9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302118 GT:AD:DP:GQ:PL 0/1:18,23:41:99:639,0,595
1 55518166 rs625619 G A 177.06 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.133;DB;DP=10;Dels=0.0;FS=2.808;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.365;QD=17.71;ReadPosRankSum=-0.741;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PCSK9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302118 GT:AD:DP:GQ:PL 0/1:4,6:10:86.06:207,0,86
1 55518190 rs45597632 AC A 218.61 PASS AC=2;AF=1.00;AN=2;DB;DP=10;FS=0.0;HRun=8;HaplotypeScore=45.581;IndelType=D;MQ=60.0;MQ0=0;QD=21.86;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PCSK9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302118 GT:AD:DP:GQ:PL 1/1:1,9:10:27.04:261,27,0
1 55518316 rs2483205 C T 151.67 PASS AB=0.647;AC=1;AF=0.50;AN=2;BaseQRankSum=0.352;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.63;MQ0=0;MQRankSum=-0.653;QD=8.92;ReadPosRankSum=-0.151;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PCSK9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302118 GT:AD:DP:GQ:PL 0/1:11,6:17:99:182,0,325
1 55518467 rs2495477 A G 326.82 PASS AB=0.381;AC=1;AF=0.50;AN=2;BaseQRankSum=1.042;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.99;MQ0=0;MQRankSum=-0.347;QD=15.56;ReadPosRankSum=-0.27;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PCSK9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000452118 GT:AD:DP:GQ:PL 0/1:8,13:21:99:357,0,238
1 55518528 rs494198 C A 188.29 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=0.627;DB;DP=14;Dels=0.0;FS=2.363;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.109;QD=13.45;ReadPosRankSum=-0.386;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PCSK9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000452118 GT:AD:DP:GQ:PL 0/1:6,8:14:99:218,0,205
1 55523033 rs509504 A G 1825.38 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.8991;MQ=59.65;MQ0=0;QD=28.08;SNPEFF_AMINO_ACID_CHANGE=Q142;SNPEFF_CODON_CHANGE=caA/caG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_55523004_55523187;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PCSK9;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000543384 GT:AD:DP:GQ:PL 1/1:0,65:65:99:1858,144,0
1 55523984 rs584626 C T 216.02 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=2.54;DB;DP=16;Dels=0.0;FS=2.158;HRun=0;HaplotypeScore=0.9469;MQ=60.0;MQ0=0;MQRankSum=0.953;QD=13.5;ReadPosRankSum=0.741;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PCSK9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302118 GT:AD:DP:GQ:PL 0/1:9,7:16:99:246,0,246
1 55524116 rs585131 C T 436.29 PASS AB=0.579;AC=1;AF=0.50;AN=2;BaseQRankSum=0.103;DB;DP=38;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=58.28;MQ0=0;MQRankSum=-1.05;QD=11.48;ReadPosRankSum=1.227;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PCSK9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302118 GT:AD:DP:GQ:PL 0/1:22,16:38:99:466,0,768
1 55524197 rs540796 A G 798.44 PASS AB=0.557;AC=1;AF=0.50;AN=2;BaseQRankSum=1.502;DB;DP=70;Dels=0.0;FS=0.921;HRun=0;HaplotypeScore=0.9933;MQ=59.34;MQ0=0;MQRankSum=0.332;QD=11.41;ReadPosRankSum=0.948;SNPEFF_AMINO_ACID_CHANGE=Y243C;SNPEFF_CODON_CHANGE=tAt/tGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_55524172_55524320;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PCSK9;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000543384 GT:AD:DP:GQ:PL 0/1:39,31:70:99:828,0,982
1 55524237 rs562556 G A 728.54 PASS AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=1.295;DB;DP=57;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.19;MQ0=0;MQRankSum=-1.033;QD=12.78;ReadPosRankSum=-1.099;SNPEFF_AMINO_ACID_CHANGE=V474I;SNPEFF_CODON_CHANGE=Gtc/Atc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_55524172_55524320;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PCSK9;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000302118 GT:AD:DP:GQ:PL 0/1:30,27:57:99:759,0,772
1 55529187 rs505151 G A 602.26 PASS AB=0.39;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.713;DB;DP=41;Dels=0.0;FS=2.784;HRun=0;HaplotypeScore=0.0;MQ=58.98;MQ0=0;MQRankSum=-0.307;QD=14.69;ReadPosRankSum=1.323;SNPEFF_AMINO_ACID_CHANGE=G670E;SNPEFF_CODON_CHANGE=gGg/gAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_55529042_55530525;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PCSK9;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000302118 GT:AD:DP:GQ:PL 0/1:16,25:41:99:632,0,415
1 55537966 rs17410238 G A 1114.14 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=4.728;DB;DP=82;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9578;MQ=59.72;MQ0=0;MQRankSum=0.59;QD=13.59;ReadPosRankSum=0.128;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP24;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294383 GT:AD:DP:GQ:PL 0/1:41,41:82:99:1144,0,1092
1 55538385 rs654674 T C 377.59 PASS AB=0.435;AC=1;AF=0.50;AN=2;BaseQRankSum=0.626;DB;DP=23;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9789;MQ=58.99;MQ0=0;MQRankSum=0.56;QD=16.42;ReadPosRankSum=-1.22;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP24;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294383 GT:AD:DP:GQ:PL 0/1:10,13:23:99:408,0,353
1 55538462 rs17410294 C T 794.45 PASS AB=0.577;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.286;DB;DP=71;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.087;QD=11.19;ReadPosRankSum=0.448;SNPEFF_AMINO_ACID_CHANGE=K2373;SNPEFF_CODON_CHANGE=aaG/aaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_55538459_55538534;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP24;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000407756 GT:AD:DP:GQ:PL 0/1:41,30:71:99:824,0,1234
1 55543079 rs56235208 T C 116.05 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.589;DB;DP=8;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.589;QD=14.51;ReadPosRankSum=1.067;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP24;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472566 GT:AD:DP:GQ:PL 0/1:2,6:8:62.46:146,0,62
1 55545464 rs72019614 ACT A 161.59 PASS AB=0.762;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.473;DB;DP=16;FS=0.0;HRun=0;HaplotypeScore=233.8262;IndelType=D;MQ=43.31;MQ0=0;MQRankSum=0.68;QD=10.1;ReadPosRankSum=1.359;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP24;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472566 GT:AD:DP:GQ:PL 0/1:11,5:16:99:201,0,443
1 55545475 . A T 49.24 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.843;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=9.7907;MQ=41.96;MQ0=0;MQRankSum=-1.517;QD=3.28;ReadPosRankSum=-1.073;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP24;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472566 GT:AD:DP:GQ:PL 0/1:6,6:15:79.24:79,0,138
1 55545479 . ACT A 213.44 PASS AB=0.737;AC=1;AF=0.50;AN=2;BaseQRankSum=1.625;DP=14;FS=0.0;HRun=0;HaplotypeScore=219.5195;IndelType=D;MQ=40.36;MQ0=0;MQRankSum=-1.892;QD=15.25;ReadPosRankSum=-1.222;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP24;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472566 GT:AD:DP:GQ:PL 0/1:9,5:14:99:252,0,324
1 55545484 rs74650614 G A 63.03 HaplotypeScoreFilter13 AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=0.8;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=26.3804;MQ=40.36;MQ0=0;MQRankSum=1.067;QD=4.5;ReadPosRankSum=2.267;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP24;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472566 GT:AD:DP:GQ:PL 0/1:9,5:14:93.02:93,0,201
1 55557859 rs34673217 A ATT 664.33 PASS AB=0.746;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.963;DB;DP=43;FS=4.019;HRun=0;HaplotypeScore=113.6163;IndelType=I;MQ=60.31;MQ0=0;MQRankSum=-0.842;QD=15.1;ReadPosRankSum=-0.376;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP24;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000482197 GT:AD:DP:GQ:PL 0/1:29,14:43:99:703,0,1279
1 55557982 rs679941 T A 200.09 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.01;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP24;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000482197 GT:AD:DP:GQ:PL 1/1:0,10:10:21.06:233,21,0
1 55560796 rs503495 T C 542.55 PASS AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=1.123;DB;DP=24;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.349;QD=22.61;ReadPosRankSum=-0.813;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP24;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294383 GT:AD:DP:GQ:PL 0/1:4,20:24:98.74:573,0,99
1 55562125 rs580485 G T 741.83 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=5.002;DB;DP=52;Dels=0.0;FS=1.711;HRun=0;HaplotypeScore=0.0;MQ=59.56;MQ0=0;MQRankSum=1.79;QD=14.27;ReadPosRankSum=0.615;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP24;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294383 GT:AD:DP:GQ:PL 0/1:28,24:52:99:772,0,782
1 55566411 rs67540253 TTAGTC T 554.73 PASS AB=0.645;AC=1;AF=0.50;AN=2;BaseQRankSum=2.817;DB;DP=20;FS=0.0;HRun=0;HaplotypeScore=109.81;IndelType=D;MQ=53.61;MQ0=0;MQRankSum=-0.776;QD=27.74;ReadPosRankSum=1.266;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP24;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294383 GT:AD:DP:GQ:PL 0/1:9,11:20:99:594,0,791
1 55567143 rs1165282 T C 317.21 PASS AB=0.421;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.867;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.289;QD=16.7;ReadPosRankSum=-0.454;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP24;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294383 GT:AD:DP:GQ:PL 0/1:8,11:19:99:347,0,277
1 55567410 rs615652 A G 841.45 PASS AB=0.551;AC=1;AF=0.50;AN=2;BaseQRankSum=1.864;DB;DP=69;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9947;MQ=60.0;MQ0=0;MQRankSum=1.321;QD=12.19;ReadPosRankSum=0.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP24;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294383 GT:AD:DP:GQ:PL 0/1:38,31:69:99:871,0,1232
1 55590015 rs67171713 T C 55.67 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=7.95;ReadPosRankSum=-1.754;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP24;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294383 GT:AD:DP:GQ:PL 0/1:4,3:7:85.67:86,0,146
1 55590828 rs502793 G A 166.15 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.718;DB;DP=12;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.869;QD=13.85;ReadPosRankSum=-0.869;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP24;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294383 GT:AD:DP:GQ:PL 0/1:6,6:12:99:196,0,213
1 55614036 rs141587565 CAT C 418.42 PASS AB=0.607;AC=1;AF=0.50;AN=2;BaseQRankSum=3.059;DB;DP=17;FS=0.0;HRun=0;HaplotypeScore=61.0108;IndelType=D;MQ=60.0;MQ0=0;MQRankSum=0.227;QD=24.61;ReadPosRankSum=0.566;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP24;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294383 GT:AD:DP:GQ:PL 0/1:6,11:17:99:457,0,242
1 55619422 rs1165230 G A 389.43 PASS AB=0.478;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.154;DB;DP=23;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9993;MQ=58.99;MQ0=0;MQRankSum=-0.831;QD=16.93;ReadPosRankSum=-0.585;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP24;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294383 GT:AD:DP:GQ:PL 0/1:11,12:23:99:419,0,383
1 55619453 rs141688366 ATAC A 581.32 PASS AB=0.702;AC=1;AF=0.50;AN=2;BaseQRankSum=4.653;DB;DP=33;FS=0.0;HRun=0;HaplotypeScore=180.5115;IndelType=D;MQ=57.87;MQ0=0;MQRankSum=-1.235;QD=17.62;ReadPosRankSum=1.614;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP24;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294383 GT:AD:DP:GQ:PL 0/1:19,14:33:99:620,0,1150
1 55638075 rs1165222 G A 2108.24 PASS AB=0.54;AC=1;AF=0.50;AN=2;BaseQRankSum=3.931;DB;DP=151;Dels=0.0;FS=2.233;HRun=1;HaplotypeScore=1.8305;MQ=59.39;MQ0=0;MQRankSum=0.97;QD=13.96;ReadPosRankSum=1.138;SNPEFF_AMINO_ACID_CHANGE=T114I;SNPEFF_CODON_CHANGE=aCt/aTt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_55638050_55638193;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP24;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000407756 GT:AD:DP:GQ:PL 0/1:81,69:151:99:2138,0,2464
1 55643837 rs67284766 TA T 582.07 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=4.071;DB;DP=35;FS=2.618;HRun=4;HaplotypeScore=86.6381;IndelType=D;MQ=59.78;MQ0=0;MQRankSum=0.387;QD=16.63;ReadPosRankSum=-1.897;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP24;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294383 GT:AD:DP:GQ:PL 0/1:15,20:35:99:621,0,447
1 57139824 rs2796534 G A 159.07 PASS AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=26.51;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRKAA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371244 GT:AD:DP:GQ:PL 0/1:1,5:6:19.74:189,0,20
1 57140349 rs11394634 C CT 139.48 PASS AC=2;AF=1.00;AN=2;DB;DP=7;FS=0.0;HRun=7;HaplotypeScore=24.745;IndelType=I;MQ=60.0;MQ0=0;QD=19.93;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRKAA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371244 GT:AD:DP:GQ:PL 1/1:2,5:7:15.05:181,15,0
1 57158293 rs7419053 G A 155.29 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.742;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9995;MQ=57.05;MQ0=0;MQRankSum=0.742;QD=19.41;ReadPosRankSum=0.742;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRKAA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371244 GT:AD:DP:GQ:PL 0/1:2,6:8:24.17:185,0,24
1 57170229 rs932447 T C 160.39 PASS AB=0.682;AC=1;AF=0.50;AN=2;BaseQRankSum=1.339;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.8939;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=6.97;ReadPosRankSum=0.634;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRKAA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371244 GT:AD:DP:GQ:PL 0/1:15,7:23:99:190,0,552
1 57185818 rs857141 A G 1302.32 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.39;MQ0=0;QD=34.27;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRKAA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371244 GT:AD:DP:GQ:PL 1/1:0,37:38:99:1335,99,0
1 57189499 rs857140 C T 120.35 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.38;QD=20.06;ReadPosRankSum=1.38;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf168;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371240 GT:AD:DP:GQ:PL 0/1:2,4:6:52.42:150,0,52
1 57192353 rs71772656 TAAA T 234.70 PASS AB=0.759;AC=1;AF=0.50;AN=2;BaseQRankSum=3.096;DB;DP=22;FS=0.0;HRun=5;HaplotypeScore=82.5016;IndelType=D;MQ=58.02;MQ0=0;MQRankSum=0.56;QD=10.67;ReadPosRankSum=0.56;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf168;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343433 GT:AD:DP:GQ:PL 0/1:15,7:22:99:274,0,877
1 57219539 rs72668350 C A 1029.43 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.165;DB;DP=70;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.445;MQ=59.4;MQ0=0;MQRankSum=0.141;QD=14.71;ReadPosRankSum=-0.988;SNPEFF_AMINO_ACID_CHANGE=K400N;SNPEFF_CODON_CHANGE=aaG/aaT;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_57219512_57219608;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf168;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000343433 GT:AD:DP:GQ:PL 0/1:33,37:70:99:1059,0,1034
1 57219631 rs11404975 G GA 420.57 PASS AB=0.681;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.764;DB;DP=32;FS=0.0;HRun=7;HaplotypeScore=86.2455;IndelType=I;MQ=60.34;MQ0=0;MQRankSum=1.29;QD=13.14;ReadPosRankSum=-0.322;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf168;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343433 GT:AD:DP:GQ:PL 0/1:17,15:32:99:460,0,293
1 57224460 rs857103 G C 488.84 PASS AB=0.304;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.434;DB;DP=23;Dels=0.0;FS=2.539;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.301;QD=21.25;ReadPosRankSum=0.768;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf168;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343433 GT:AD:DP:GQ:PL 0/1:7,16:23:99:519,0,225
1 57257668 rs2298129 C A 1213.74 PASS AB=0.511;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.241;DB;DP=90;Dels=0.0;FS=2.908;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.73;QD=13.49;ReadPosRankSum=-2.208;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf168;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343433 GT:AD:DP:GQ:PL 0/1:46,44:90:99:1244,0,1488
1 57340860 rs2269118 G A 110.94 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.72;QD=18.49;ReadPosRankSum=0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C8A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361249 GT:AD:DP:GQ:PL 0/1:2,4:6:66.82:141,0,67
1 57349407 rs6694643 A T 215.01 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=2.604;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.521;QD=14.33;ReadPosRankSum=-0.289;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C8A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361249 GT:AD:DP:GQ:PL 0/1:8,7:15:99:245,0,270
1 57349464 rs6697228 T C 85.39 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.38;QD=14.23;ReadPosRankSum=-0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C8A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361249 GT:AD:DP:GQ:PL 0/1:2,4:6:58.96:115,0,59
1 57372591 rs619545 C T 180.95 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=2.424;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=-0.555;QD=13.92;ReadPosRankSum=0.101;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C8A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361249 GT:AD:DP:GQ:PL 0/1:7,6:13:99:211,0,205
1 57373500 rs10562652 GAGA G 332.04 PASS AC=2;AF=1.00;AN=2;DB;DP=8;FS=0.0;HRun=0;HaplotypeScore=34.6909;IndelType=D;MQ=56.88;MQ0=0;QD=41.51;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C8A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361249 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:374,24,0
1 57378413 rs623077 T C 81.70 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.23;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C8A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361249 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:114,9,0
1 57395251 rs605648 T C 1251.98 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.94;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C8B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465658 GT:AD:DP:GQ:PL 1/1:0,33:33:93.30:1285,93,0
1 57395294 rs41285940 G A 428.27 PASS AB=0.381;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.571;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.978;QD=20.39;ReadPosRankSum=1.412;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C8B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465658 GT:AD:DP:GQ:PL 0/1:8,13:21:99:458,0,225
1 57406392 rs6669836 T C 555.17 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.01;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C8B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371237 GT:AD:DP:GQ:PL 1/1:0,15:15:45.12:588,45,0
1 57409327 rs41286846 T C 1033.68 PASS AB=0.481;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.14;DB;DP=79;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=-0.577;QD=13.08;ReadPosRankSum=0.005;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C8B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371237 GT:AD:DP:GQ:PL 0/1:38,41:79:99:1064,0,1124
1 57409329 rs72670361 A G 1074.17 PASS AB=0.506;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.686;DB;DP=79;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=0.676;QD=13.6;ReadPosRankSum=-0.457;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C8B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371237 GT:AD:DP:GQ:PL 0/1:40,39:79:99:1104,0,1189
1 57422218 rs7541538 T C 620.97 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.68;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C8B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468990 GT:AD:DP:GQ:PL 1/1:0,19:19:48.16:654,48,0
1 57422298 rs145693778 G T 675.49 PASS AB=0.606;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.206;DB;DP=66;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.5253;MQ=60.0;MQ0=0;MQRankSum=0.584;QD=10.23;ReadPosRankSum=0.243;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C8B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468990 GT:AD:DP:GQ:PL 0/1:40,26:66:99:705,0,1388
1 57422484 rs1013579 C T 7050.18 PASS AC=2;AF=1.00;AN=2;DB;DP=206;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7128;MQ=59.78;MQ0=0;QD=34.22;SNPEFF_AMINO_ACID_CHANGE=G117R;SNPEFF_CODON_CHANGE=Gga/Aga;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_57422442_57422583;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C8B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000371237 GT:AD:DP:GQ:PL 1/1:0,206:206:99:7050,524,0
1 57425888 rs139781264 AG A 335.30 PASS AB=0.658;AC=1;AF=0.50;AN=2;BaseQRankSum=3.435;DB;DP=25;FS=3.203;HRun=3;HaplotypeScore=63.9316;IndelType=D;MQ=60.43;MQ0=0;MQRankSum=1.703;QD=13.41;ReadPosRankSum=-1.934;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C8B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371237 GT:AD:DP:GQ:PL 0/1:12,13:25:99:374,0,447
1 57536582 rs17418461 T C 468.53 PASS AB=0.553;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.594;DB;DP=38;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.39;MQ0=0;MQRankSum=0.076;QD=12.33;ReadPosRankSum=0.107;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DAB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000489267 GT:AD:DP:GQ:PL 0/1:21,17:38:99:499,0,691
1 58521640 rs34463571 G A 352.91 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.045;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=48.79;MQ0=0;MQRankSum=0.039;QD=17.65;ReadPosRankSum=-1.119;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DAB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371234 GT:AD:DP:GQ:PL 0/1:8,12:20:99:383,0,264
1 58521721 rs141842011 CT C 287.51 PASS AB=0.649;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.569;DB;DP=58;FS=0.0;HRun=16;HaplotypeScore=301.2514;IndelType=D;MQ=46.37;MQ0=0;MQRankSum=1.183;QD=4.56;ReadPosRankSum=0.956;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DAB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371234 GT:AD:DP:GQ:PL 0/1:28,29:58:99:327,0,286
1 58939335 rs338232 C T 86.60 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.87;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=OMA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358603 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:119,9,0
1 58939502 rs12118488 C A 730.14 PASS AB=0.409;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.139;DB;DP=44;Dels=0.0;FS=2.02;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=16.59;ReadPosRankSum=-0.751;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=OMA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358603 GT:AD:DP:GQ:PL 0/1:18,26:44:99:760,0,578
1 58946539 rs67922378 C CT 193.59 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.296;DB;DP=18;FS=0.0;HRun=10;HaplotypeScore=45.2875;IndelType=I;MQ=60.53;MQ0=0;MQRankSum=-0.177;QD=10.76;ReadPosRankSum=-2.031;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=OMA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000476933 GT:AD:DP:GQ:PL 0/1:9,9:18:99:233,0,168
1 58946861 rs12144759 T G 319.50 PASS AB=0.389;AC=1;AF=0.50;AN=2;BaseQRankSum=1.177;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.091;QD=17.75;ReadPosRankSum=-0.543;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=OMA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358603 GT:AD:DP:GQ:PL 0/1:7,11:18:99:349,0,222
1 58946947 rs338224 T C 44.63 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=14.88;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=OMA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358603 GT:AD:DP:GQ:PL 0/1:1,2:3:32.20:75,0,32
1 58971831 rs3087585 G A 410.23 PASS AB=0.543;AC=1;AF=0.50;AN=2;BaseQRankSum=0.646;DB;DP=35;Dels=0.0;FS=1.451;HRun=2;HaplotypeScore=0.6651;MQ=59.47;MQ0=0;MQRankSum=-0.48;QD=11.72;ReadPosRankSum=0.281;SNPEFF_AMINO_ACID_CHANGE=F422;SNPEFF_CODON_CHANGE=ttC/ttT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_58971732_58971881;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=OMA1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000358603 GT:AD:DP:GQ:PL 0/1:19,16:35:99:440,0,600
1 58971940 rs11207245 C A 74.21 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.359;DB;DP=11;Dels=0.0;FS=3.424;HRun=5;HaplotypeScore=0.9469;MQ=57.87;MQ0=0;MQRankSum=0.466;QD=6.75;ReadPosRankSum=-1.932;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=OMA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358603 GT:AD:DP:GQ:PL 0/1:6,5:11:99:104,0,148
1 58996203 rs2271004 T C 246.29 PASS AB=0.524;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.162;DB;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.246;QD=11.19;ReadPosRankSum=-0.81;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=OMA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000419242 GT:AD:DP:GQ:PL 0/1:11,10:22:99:276,0,314
1 59004979 rs902925 C T 958 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.48;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_1_59004467_59004982;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=OMA1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000358603 GT:AD:DP:GQ:PL 1/1:0,27:27:75.21:991,75,0
1 59041655 rs41313363 T C 42.72 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.36;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TACSTD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371225 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:74,6,0
1 59042001 rs12121124 G A 126.25 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.867;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.533;QD=9.02;ReadPosRankSum=1.067;SNPEFF_AMINO_ACID_CHANGE=G276;SNPEFF_CODON_CHANGE=ggC/ggT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_59041099_59043166;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TACSTD2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000371225 GT:AD:DP:GQ:PL 0/1:9,5:14:99:156,0,289
1 59125515 rs12737926 C T 84.43 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.14;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYSM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401044 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:116,9,0
1 59125894 rs12092264 A G 388.22 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.35;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYSM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472487 GT:AD:DP:GQ:PL 1/1:0,12:12:30.10:421,30,0
1 59125899 rs12082192 G A 460.31 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.41;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYSM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472487 GT:AD:DP:GQ:PL 1/1:0,13:13:36.12:493,36,0
1 59127024 rs4912364 T G 1033.44 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.28;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYSM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472487 GT:AD:DP:GQ:PL 1/1:0,27:27:81.25:1066,81,0
1 59131311 rs232790 G T 1166.62 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.53;MQ0=0;QD=29.17;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYSM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472487 GT:AD:DP:GQ:PL 1/1:0,40:40:90.26:1200,90,0
1 59131481 rs232791 C T 159.78 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.83;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYSM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472487 GT:AD:DP:GQ:PL 1/1:0,7:7:15.05:193,15,0
1 59133339 rs6673162 C T 142.71 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.54;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYSM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472487 GT:AD:DP:GQ:PL 1/1:0,5:5:15.04:175,15,0
1 59134586 rs11207284 G C 175.44 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.09;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYSM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472487 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:208,15,0
1 59134607 rs57822474 C CAG 384.13 PASS AC=2;AF=1.00;AN=2;DB;DP=7;FS=0.0;HRun=0;HaplotypeScore=30.6263;IndelType=I;MQ=61.53;MQ0=0;QD=54.88;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYSM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472487 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:426,21,0
1 59137783 rs539141 A G 203.09 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.04;MQ0=0;QD=33.85;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYSM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481973 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:236,18,0
1 59139223 rs2064370 C G 770.26 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.63;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYSM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481973 GT:AD:DP:GQ:PL 1/1:0,26:26:63.17:803,63,0
1 59141365 rs17118097 G A 49.41 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.7;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYSM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481973 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
1 59142713 rs579110 T C 3186.11 PASS AC=2;AF=1.00;AN=2;DB;DP=108;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=59.05;MQ0=0;QD=29.5;SNPEFF_AMINO_ACID_CHANGE=P425;SNPEFF_CODON_CHANGE=ccA/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_59142598_59142728;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYSM1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000472487 GT:AD:DP:GQ:PL 1/1:0,108:108:99:3219,256,0
1 59147420 rs11207292 G A 1343.84 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=39.52;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYSM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466774 GT:AD:DP:GQ:PL 1/1:0,34:34:99:1377,99,0
1 59147926 rs12139511 T C 3751.55 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.291;DB;DP=103;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.951;QD=36.42;ReadPosRankSum=1.019;SNPEFF_AMINO_ACID_CHANGE=T264A;SNPEFF_CODON_CHANGE=Act/Gct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_59147457_59148217;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYSM1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000472487 GT:AD:DP:GQ:PL 1/1:1,101:103:99:3752,247,0
1 59148136 rs141778225 T C 603.85 PASS AB=0.632;AC=1;AF=0.50;AN=2;BaseQRankSum=0.72;DB;DP=57;Dels=0.0;FS=7.094;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=-0.438;QD=10.59;ReadPosRankSum=-0.008;SNPEFF_AMINO_ACID_CHANGE=K194E;SNPEFF_CODON_CHANGE=Aag/Gag;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_59147457_59148217;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYSM1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000472487 GT:AD:DP:GQ:PL 0/1:36,21:57:99:634,0,1250
1 59150941 rs2206764 G A 671.61 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=8;HaplotypeScore=0.0;MQ=57.39;MQ0=0;QD=24.87;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYSM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000483003 GT:AD:DP:GQ:PL 1/1:0,27:27:63.17:705,63,0
1 59150997 rs34253410 TA T 138.94 PASS AC=2;AF=1.00;AN=2;DB;DP=11;FS=0.0;HRun=13;HaplotypeScore=115.6644;IndelType=D;MQ=50.96;MQ0=0;QD=12.63;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYSM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000483003 GT:AD:DP:GQ:PL 1/1:2,8:11:25.86:181,26,0
1 59156155 rs12076049 C T 817.57 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.16;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYSM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000489282 GT:AD:DP:GQ:PL 1/1:0,22:22:63.20:851,63,0
1 59158632 rs12097333 T C 2772.59 PASS AC=2;AF=1.00;AN=2;DB;DP=86;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.5193;MQ=59.51;MQ0=0;QD=32.24;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYSM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472487 GT:AD:DP:GQ:PL 1/1:0,86:86:99:2806,220,0
1 59160724 rs149815102 TA T 46.04 PASS AC=2;AF=1.00;AN=2;DB;DP=6;FS=0.0;HRun=13;HaplotypeScore=33.329;IndelType=D;MQ=60.0;MQ0=0;QD=7.67;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYSM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472487 GT:AD:DP:GQ:PL 1/1:1,5:6:11.92:88,12,0
1 59165838 rs11207297 T G 170.44 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.04;MQ0=0;QD=28.41;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYSM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466774 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:203,15,0
1 59248813 rs2760499 G C 680.72 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.94;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_1_59246465_59249785;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=JUN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371222 GT:AD:DP:GQ:PL 1/1:0,22:22:57.14:714,57,0
1 59787350 rs835409 T G 675.38 PASS AB=0.542;AC=1;AF=0.50;AN=2;BaseQRankSum=0.314;DB;DP=59;Dels=0.0;FS=1.035;HRun=0;HaplotypeScore=1.9497;MQ=59.61;MQ0=0;MQRankSum=0.394;QD=11.45;ReadPosRankSum=-0.893;SNPEFF_AMINO_ACID_CHANGE=N43K;SNPEFF_CODON_CHANGE=aaT/aaG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_59787208_59787422;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FGGY;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000303721 GT:AD:DP:GQ:PL 0/1:32,27:59:99:705,0,799
1 59844471 rs835435 G A 904.11 PASS AB=0.424;AC=1;AF=0.50;AN=2;BaseQRankSum=1.57;DB;DP=59;Dels=0.0;FS=5.399;HRun=0;HaplotypeScore=1.9318;MQ=60.0;MQ0=0;MQRankSum=0.44;QD=15.32;ReadPosRankSum=0.895;SNPEFF_AMINO_ACID_CHANGE=P172;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_59844421_59844509;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FGGY;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000303721 GT:AD:DP:GQ:PL 0/1:25,34:59:99:934,0,707
1 60223460 rs590704 A G 68.45 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.221;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=-0.322;QD=8.56;ReadPosRankSum=0.322;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FGGY;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303721 GT:AD:DP:GQ:PL 0/1:5,3:8:98.44:98,0,183
1 60228310 rs10626387 T TTC 480.04 PASS AC=2;AF=1.00;AN=2;DB;DP=9;FS=0.0;HRun=0;HaplotypeScore=21.0447;IndelType=I;MQ=51.18;MQ0=0;QD=53.34;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FGGY;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472783 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:522,27,0
1 60299820 rs618716 C G 557.23 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.33;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HOOK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371208 GT:AD:DP:GQ:PL 1/1:0,19:19:48.14:590,48,0
1 60326045 . C G 399.16 HaplotypeScoreFilter13 AB=0.433;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.868;DP=97;Dels=0.0;FS=43.449;HRun=1;HaplotypeScore=26.9628;MQ=53.48;MQ0=0;MQRankSum=-1.15;QD=4.12;ReadPosRankSum=2.778;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HOOK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371208 GT:AD:DP:GQ:PL 0/1:42,55:97:99:429,0,602
1 60377133 rs1570693 T G 134.04 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.922;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.495;QD=19.15;ReadPosRankSum=0.922;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYP2J2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371204 GT:AD:DP:GQ:PL 0/1:2,5:7:62.40:164,0,62
1 60381437 rs11572245 C G 37.20 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.406;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=51.77;MQ0=0;MQRankSum=0.406;QD=6.2;ReadPosRankSum=-0.406;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYP2J2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371204 GT:AD:DP:GQ:PL 0/1:3,3:6:67.19:67,0,101
1 60392271 rs11572191 G A 817.72 PASS AB=0.357;AC=1;AF=0.50;AN=2;BaseQRankSum=2.362;DB;DP=42;Dels=0.0;FS=2.913;HRun=1;HaplotypeScore=0.0;MQ=59.56;MQ0=0;MQRankSum=1.391;QD=19.47;ReadPosRankSum=0.184;SNPEFF_AMINO_ACID_CHANGE=L50;SNPEFF_CODON_CHANGE=Ctg/Ttg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_60392209_60392462;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYP2J2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000371204 GT:AD:DP:GQ:PL 0/1:15,27:42:99:848,0,417
1 60466814 rs626251 T C 336.17 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.91;MQ0=0;QD=24.01;SNPEFF_AMINO_ACID_CHANGE=K174E;SNPEFF_CODON_CHANGE=Aaa/Gaa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_60466749_60466828;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C1orf87;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000450089 GT:AD:DP:GQ:PL 1/1:0,14:14:30.09:369,30,0
1 60466840 rs67702939 TA T 44.81 PASS AB=0.647;AC=1;AF=0.50;AN=2;BaseQRankSum=0.322;DB;DP=11;FS=0.0;HRun=13;HaplotypeScore=72.9895;IndelType=D;MQ=59.88;MQ0=0;MQRankSum=0.322;QD=4.07;ReadPosRankSum=0.322;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C1orf87;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371201 GT:AD:DP:GQ:PL 0/1:5,6:11:63.55:84,0,64
1 60474375 rs17119974 C T 1022.85 PASS AB=0.69;AC=1;AF=0.50;AN=2;BaseQRankSum=1.427;DB;DP=129;Dels=0.0;FS=5.996;HRun=0;HaplotypeScore=0.0;MQ=59.82;MQ0=0;MQRankSum=-0.959;QD=7.93;ReadPosRankSum=-0.039;SNPEFF_AMINO_ACID_CHANGE=T13;SNPEFF_CODON_CHANGE=acG/acA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_60474320_60474413;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C1orf87;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000395552 GT:AD:DP:GQ:PL 0/1:89,40:129:99:1053,0,2687
1 60475930 rs616949 C G 385.71 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=1.683;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=-0.22;QD=14.29;ReadPosRankSum=2.22;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C1orf87;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371201 GT:AD:DP:GQ:PL 0/1:15,12:27:99:416,0,520
1 60476321 rs17119983 G T 75.06 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.368;DB;DP=8;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.421;QD=9.38;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C1orf87;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371201 GT:AD:DP:GQ:PL 0/1:4,4:8:99:105,0,112
1 60503594 rs72669614 C T 461.54 PASS AB=0.379;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.955;DB;DP=29;Dels=0.0;FS=0.0;HRun=6;HaplotypeScore=0.0;MQ=59.36;MQ0=0;MQRankSum=-0.112;QD=15.92;ReadPosRankSum=-2.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C1orf87;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371201 GT:AD:DP:GQ:PL 0/1:11,18:29:99:492,0,376
1 60503883 rs11351602 TA T 115.09 PASS AB=0.781;AC=1;AF=0.50;AN=2;BaseQRankSum=3.17;DB;DP=25;FS=0.0;HRun=7;HaplotypeScore=58.743;IndelType=D;MQ=59.07;MQ0=0;MQRankSum=0.792;QD=4.6;ReadPosRankSum=0.713;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C1orf87;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371201 GT:AD:DP:GQ:PL 0/1:18,7:25:99:154,0,429
1 60505578 rs680390 A G 2478.39 PASS AC=2;AF=1.00;AN=2;DB;DP=78;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.7663;MQ=59.46;MQ0=0;QD=31.77;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C1orf87;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371201 GT:AD:DP:GQ:PL 1/1:0,78:78:99:2511,202,0
1 60505783 rs12737449 G C 1471.98 PASS AB=0.438;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.963;DB;DP=89;Dels=0.0;FS=1.744;HRun=0;HaplotypeScore=0.0;MQ=59.74;MQ0=0;MQRankSum=0.343;QD=16.54;ReadPosRankSum=0.318;SNPEFF_AMINO_ACID_CHANGE=L185V;SNPEFF_CODON_CHANGE=Ctc/Gtc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_60505589_60505852;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C1orf87;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000371201 GT:AD:DP:GQ:PL 0/1:39,50:89:99:1502,0,1188
1 60505965 rs12723322 T G 177.25 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.568;DB;DP=10;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.568;QD=17.72;ReadPosRankSum=0.365;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C1orf87;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371201 GT:AD:DP:GQ:PL 0/1:4,6:10:99:207,0,131
1 60506744 rs10493277 G A 729.14 PASS AB=0.426;AC=1;AF=0.50;AN=2;BaseQRankSum=1.584;DB;DP=47;Dels=0.0;FS=2.652;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.294;QD=15.51;ReadPosRankSum=-0.692;SNPEFF_AMINO_ACID_CHANGE=S134;SNPEFF_CODON_CHANGE=tcC/tcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_60506663_60506803;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C1orf87;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000371201 GT:AD:DP:GQ:PL 0/1:20,27:47:99:759,0,533
1 61330929 rs112380759 A G 92.55 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=0.55;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.62;MQ0=0;MQRankSum=-1.3;QD=13.22;ReadPosRankSum=0.55;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NFIA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371191 GT:AD:DP:GQ:PL 0/1:3,4:7:98.81:123,0,99
1 61331160 rs72046482 C CTT 240.57 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.579;DB;DP=27;FS=0.0;HRun=21;HaplotypeScore=232.7865;IndelType=I;MQ=49.04;MQ0=0;MQRankSum=-0.81;QD=8.91;ReadPosRankSum=-0.81;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NFIA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371191 GT:AD:DP:GQ:PL 1/1:14,11:27:19.44:283,19,0
1 61818381 rs11587835 C T 348.34 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.83;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NFIA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371184 GT:AD:DP:GQ:PL 1/1:0,10:10:30.08:381,30,0
1 61892301 rs5774558 T TG 673.11 PASS AC=2;AF=1.00;AN=2;DB;DP=18;FS=0.0;HRun=1;HaplotypeScore=57.124;IndelType=I;MQ=59.49;MQ0=0;QD=37.39;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NFIA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371184 GT:AD:DP:GQ:PL 1/1:1,16:18:48.16:715,48,0
1 62160542 rs1151765 A G 301.93 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=2.4;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.667;QD=20.13;ReadPosRankSum=1.733;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TM2D1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294613 GT:AD:DP:GQ:PL 0/1:6,9:15:99:332,0,140
1 62189324 . A G 189.66 PASS AB=0.524;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.439;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.11;MQ0=0;MQRankSum=1.323;QD=9.03;ReadPosRankSum=-0.34;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TM2D1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294613 GT:AD:DP:GQ:PL 0/1:11,10:21:99:220,0,360
1 62232031 rs1286835 C T 1076.45 PASS AB=0.494;AC=1;AF=0.50;AN=2;BaseQRankSum=0.724;DB;DP=77;Dels=0.0;FS=9.492;HRun=1;HaplotypeScore=1.7621;MQ=59.46;MQ0=0;MQRankSum=1.081;QD=13.98;ReadPosRankSum=-1.265;SNPEFF_AMINO_ACID_CHANGE=I90;SNPEFF_CODON_CHANGE=atC/atT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_62231951_62232145;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INADL;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000255202 GT:AD:DP:GQ:PL 0/1:38,39:77:99:1106,0,1193
1 62232173 rs1290444 T C 724.18 PASS AB=0.367;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.997;DB;DP=49;Dels=0.0;FS=1.502;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.135;QD=14.78;ReadPosRankSum=-2.022;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INADL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000255202 GT:AD:DP:GQ:PL 0/1:18,31:49:99:754,0,568
1 62253483 rs3762321 G A 781.54 PASS AB=0.537;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.891;DB;DP=54;Dels=0.0;FS=10.369;HRun=0;HaplotypeScore=1.8455;MQ=59.14;MQ0=0;MQRankSum=-0.468;QD=14.47;ReadPosRankSum=0.069;SNPEFF_AMINO_ACID_CHANGE=G303R;SNPEFF_CODON_CHANGE=Gga/Aga;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_62253426_62253644;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INADL;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000255202 GT:AD:DP:GQ:PL 0/1:29,25:54:99:812,0,888
1 62253768 rs35694329 G GA 54.97 PASS AC=2;AF=1.00;AN=2;DB;DP=6;FS=0.0;HRun=10;HaplotypeScore=47.7309;IndelType=I;MQ=51.77;MQ0=0;QD=9.16;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INADL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000255202 GT:AD:DP:GQ:PL 1/1:1,5:6:9.02:96,9,0
1 62257036 rs1286823 A C 629.78 PASS AB=0.395;AC=1;AF=0.50;AN=2;BaseQRankSum=0.141;DB;DP=38;Dels=0.0;FS=1.4;HRun=0;HaplotypeScore=0.0;MQ=59.39;MQ0=0;MQRankSum=-0.423;QD=16.57;ReadPosRankSum=-0.736;SNPEFF_AMINO_ACID_CHANGE=E362A;SNPEFF_CODON_CHANGE=gAa/gCa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_62257020_62257119;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INADL;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000255202 GT:AD:DP:GQ:PL 0/1:15,23:38:99:660,0,377
1 62257223 rs3790577 A G 153.56 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.684;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.322;QD=19.19;ReadPosRankSum=-0.684;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INADL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000255202 GT:AD:DP:GQ:PL 0/1:3,5:8:99:184,0,102
1 62261168 rs7516332 A G 483.86 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=0.061;DB;DP=45;Dels=0.0;FS=1.141;HRun=0;HaplotypeScore=0.0;MQ=58.97;MQ0=0;MQRankSum=0.134;QD=10.75;ReadPosRankSum=-0.96;SNPEFF_AMINO_ACID_CHANGE=I400V;SNPEFF_CODON_CHANGE=Ata/Gta;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_62261139_62261230;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INADL;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000255202 GT:AD:DP:GQ:PL 0/1:21,24:45:99:514,0,650
1 62267625 rs11207841 G A 76.07 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=39.12;MQ0=0;QD=19.02;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INADL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000255202 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:108,9,0
1 62267656 rs11803807 C T 42.84 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=47.12;MQ0=0;QD=21.42;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INADL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000255202 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:74,6,0
1 62274312 rs3790576 G A 151.58 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=0.198;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.6643;MQ=60.0;MQ0=0;MQRankSum=0.922;QD=18.95;ReadPosRankSum=0.922;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INADL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000255202 GT:AD:DP:GQ:PL 0/1:2,5:8:61.92:182,0,62
1 62330080 rs2799627 T G 1017.64 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.92;SNPEFF_AMINO_ACID_CHANGE=I870M;SNPEFF_CODON_CHANGE=atT/atG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_62329910_62330305;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INADL;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000255202 GT:AD:DP:GQ:PL 1/1:0,30:30:78.25:1051,78,0
1 62340726 rs12096192 G A 170.44 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.09;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INADL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000255202 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:203,15,0
1 62340855 rs12753462 G C 944.85 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=39.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INADL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000255202 GT:AD:DP:GQ:PL 1/1:0,24:24:72.21:978,72,0
1 62341157 rs4598521 T C 681.04 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.95;MQ0=0;QD=30.96;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INADL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000255202 GT:AD:DP:GQ:PL 1/1:0,22:22:60.18:714,60,0
1 62350123 rs72229771 GTTTTT G 313.73 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.917;DB;DP=29;FS=0.0;HRun=22;HaplotypeScore=260.9934;IndelType=D;MQ=44.97;MQ0=0;MQRankSum=0.639;QD=10.82;ReadPosRankSum=0.274;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INADL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000255202 GT:AD:DP:GQ:PL 1/1:10,11:29:25.61:356,26,0
1 62365217 rs1412622 C T 6237.42 PASS AC=2;AF=1.00;AN=2;DB;DP=196;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8667;MQ=59.53;MQ0=0;QD=31.82;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INADL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000255202 GT:AD:DP:GQ:PL 1/1:0,196:196:99:6237,494,0
1 62365428 rs5774578 G GA 1549.49 PASS AC=2;AF=1.00;AN=2;DB;DP=40;FS=0.0;HRun=2;HaplotypeScore=99.2093;IndelType=I;MQ=60.24;MQ0=0;QD=38.74;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INADL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000255202 GT:AD:DP:GQ:PL 1/1:3,37:40:99:1592,111,0
1 62366878 rs2499002 T G 224.48 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INADL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000255202 GT:AD:DP:GQ:PL 1/1:0,7:7:21.04:257,21,0
1 62374267 rs2151122 T C 252.06 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.01;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INADL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000255202 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:285,21,0
1 62380124 rs4915789 A G 47.79 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.92;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.956;QD=5.97;ReadPosRankSum=0.684;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INADL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000255202 GT:AD:DP:GQ:PL 0/1:5,3:8:77.78:78,0,181
1 62380195 rs2482858 A G 943.08 PASS AB=0.476;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.365;DB;DP=63;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9958;MQ=60.0;MQ0=0;MQRankSum=0.007;QD=14.97;ReadPosRankSum=0.681;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INADL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000255202 GT:AD:DP:GQ:PL 0/1:30,33:63:99:973,0,1043
1 62380223 rs11585422 G T 1266.08 PASS AB=0.452;AC=1;AF=0.50;AN=2;BaseQRankSum=6.495;DB;DP=84;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.103;QD=15.07;ReadPosRankSum=0.205;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INADL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000255202 GT:AD:DP:GQ:PL 0/1:38,46:84:99:1296,0,999
1 62380270 rs1134766 C T 4624.60 PASS AC=2;AF=1.00;AN=2;DB;DP=131;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9995;MQ=59.82;MQ0=0;QD=35.3;SNPEFF_AMINO_ACID_CHANGE=N1168;SNPEFF_CODON_CHANGE=aaC/aaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_62380259_62380336;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INADL;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000316485 GT:AD:DP:GQ:PL 1/1:0,131:131:99:4625,337,0
1 62380298 rs1056513 G A 5439.24 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.619;DB;DP=155;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=4.4348;MQ=59.85;MQ0=0;MQRankSum=0.577;QD=35.09;ReadPosRankSum=0.057;SNPEFF_AMINO_ACID_CHANGE=G1178S;SNPEFF_CODON_CHANGE=Ggt/Agt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_62380259_62380336;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INADL;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000316485 GT:AD:DP:GQ:PL 1/1:1,154:155:99:5439,397,0
1 62393394 rs2251182 A G 1043.38 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.08;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INADL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000255202 GT:AD:DP:GQ:PL 1/1:0,40:40:84.25:1076,84,0
1 62456014 rs1134767 G A 237.83 PASS AB=0.64;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.028;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.28;MQ0=0;MQRankSum=1.33;QD=9.15;ReadPosRankSum=-0.651;SNPEFF_AMINO_ACID_CHANGE=R1282H;SNPEFF_CODON_CHANGE=cGt/cAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_62455840_62456036;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INADL;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000316485 GT:AD:DP:GQ:PL 0/1:16,9:26:99:268,0,517
1 62483599 rs34726576 G A 1109.25 PASS AB=0.425;AC=1;AF=0.50;AN=2;BaseQRankSum=1.211;DB;DP=73;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=1.6208;MQ=58.08;MQ0=0;MQRankSum=-0.262;QD=15.2;ReadPosRankSum=-0.117;SNPEFF_AMINO_ACID_CHANGE=K1313;SNPEFF_CODON_CHANGE=aaG/aaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_62483528_62483619;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INADL;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000316485 GT:AD:DP:GQ:PL 0/1:31,42:73:99:1139,0,975
1 62483623 rs41313250 A G 687.92 PASS AB=0.537;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.318;DB;DP=54;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.83;MQ0=0;MQRankSum=1.683;QD=12.74;ReadPosRankSum=-1.561;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INADL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000255202 GT:AD:DP:GQ:PL 0/1:29,25:54:99:718,0,1026
1 62516683 rs2498982 G C 437.84 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.198;DB;DP=30;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.166;QD=14.59;ReadPosRankSum=1.286;SNPEFF_AMINO_ACID_CHANGE=V1360L;SNPEFF_CODON_CHANGE=Gtc/Ctc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_62516638_62516730;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INADL;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000316485 GT:AD:DP:GQ:PL 0/1:15,15:30:99:468,0,418
1 62545085 rs17379217 C T 669.92 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=0.651;DB;DP=65;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.493;QD=10.31;ReadPosRankSum=1.244;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INADL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000255202 GT:AD:DP:GQ:PL 0/1:35,30:65:99:700,0,1160
1 62579672 rs1475564 A C 79.71 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=0.55;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.754;QD=11.39;ReadPosRankSum=-1.754;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INADL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000255202 GT:AD:DP:GQ:PL 0/1:3,4:7:99:110,0,100
1 62579758 rs41289428 G A 189.44 PASS AB=0.3;AC=1;AF=0.50;AN=2;BaseQRankSum=2.054;DB;DP=10;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.248;QD=18.94;ReadPosRankSum=-0.248;SNPEFF_AMINO_ACID_CHANGE=E144K;SNPEFF_CODON_CHANGE=Gaa/Aaa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_62579725_62579995;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INADL;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000545929 GT:AD:DP:GQ:PL 0/1:3,7:10:49.07:219,0,49
1 62579823 rs1475563 G A 194.35 PASS AB=0.222;AC=1;AF=0.50;AN=2;BaseQRankSum=1.666;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.762;QD=21.59;ReadPosRankSum=1.179;SNPEFF_AMINO_ACID_CHANGE=E1492;SNPEFF_CODON_CHANGE=gaG/gaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_62579725_62579918;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INADL;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000395513 GT:AD:DP:GQ:PL 0/1:2,7:9:18.94:224,0,19
1 62587014 rs71582664 T TA 289.07 PASS AB=0.762;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.792;DB;DP=48;FS=3.01;HRun=12;HaplotypeScore=153.8365;IndelType=I;MQ=60.67;MQ0=0;MQRankSum=1.187;QD=6.02;ReadPosRankSum=-1.54;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INADL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465798 GT:AD:DP:GQ:PL 0/1:33,15:48:99:328,0,352
1 62593893 rs2481664 T C 82.18 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.793;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.43;MQ0=0;MQRankSum=0.244;QD=6.85;ReadPosRankSum=0.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INADL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000255202 GT:AD:DP:GQ:PL 0/1:7,5:12:99:112,0,255
1 62594593 rs2476194 C T 655.98 PASS AB=0.522;AC=1;AF=0.50;AN=2;BaseQRankSum=1.859;DB;DP=46;Dels=0.0;FS=2.926;HRun=0;HaplotypeScore=0.0;MQ=58.99;MQ0=0;MQRankSum=-0.012;QD=14.26;ReadPosRankSum=0.304;SNPEFF_AMINO_ACID_CHANGE=N1749;SNPEFF_CODON_CHANGE=aaC/aaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_62594513_62594617;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INADL;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000371158 GT:AD:DP:GQ:PL 0/1:24,22:46:99:686,0,645
1 62594677 rs2481665 T C 305.43 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.664;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.908;QD=12.73;ReadPosRankSum=-0.029;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INADL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472512 GT:AD:DP:GQ:PL 0/1:14,10:24:99:335,0,517
1 62672546 rs2457829 G A 399.35 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.113;DB;DP=30;Dels=0.0;FS=4.821;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.589;QD=13.31;ReadPosRankSum=-0.065;SNPEFF_AMINO_ACID_CHANGE=G82;SNPEFF_CODON_CHANGE=ggG/ggA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_62672191_62673308;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=L1TD1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000498273 GT:AD:DP:GQ:PL 0/1:15,15:30:99:429,0,415
1 62704134 rs41289438 A G 103.24 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.55;DB;DP=7;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.55;QD=14.75;ReadPosRankSum=0.937;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KANK4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317477 GT:AD:DP:GQ:PL 0/1:3,4:7:99:133,0,102
1 62713224 rs2941679 C G 1187.81 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.28;MQ0=0;QD=37.12;SNPEFF_AMINO_ACID_CHANGE=V291L;SNPEFF_CODON_CHANGE=Gtg/Ctg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_62713144_62713344;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KANK4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000371150 GT:AD:DP:GQ:PL 1/1:0,32:32:90.29:1221,90,0
1 62713246 rs10889315 G A 1230.99 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=58.59;MQ0=0;QD=37.3;SNPEFF_AMINO_ACID_CHANGE=H283;SNPEFF_CODON_CHANGE=caC/caT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_62713144_62713344;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KANK4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000371150 GT:AD:DP:GQ:PL 1/1:0,33:33:93.31:1264,93,0
1 62713469 rs10789108 T C 186.09 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KANK4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317477 GT:AD:DP:GQ:PL 1/1:0,7:7:18.06:219,18,0
1 62728784 rs2666472 A G 90.46 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.164;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.45;MQ0=0;MQRankSum=1.041;QD=6.03;ReadPosRankSum=1.531;SNPEFF_AMINO_ACID_CHANGE=V196A;SNPEFF_CODON_CHANGE=gTg/gCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_62728764_62728983;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KANK4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000371150 GT:AD:DP:GQ:PL 0/1:10,5:15:99:120,0,328
1 62728838 rs2258470 T C 49.84 PASS AB=0.786;AC=1;AF=0.50;AN=2;BaseQRankSum=0.467;DB;DP=14;Dels=0.0;FS=5.88;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.778;QD=3.56;ReadPosRankSum=-2.024;SNPEFF_AMINO_ACID_CHANGE=H178R;SNPEFF_CODON_CHANGE=cAc/cGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_62728764_62728983;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KANK4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000371150 GT:AD:DP:GQ:PL 0/1:11,3:14:79.83:80,0,402
1 62728918 rs2262110 G A 166.26 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=0.058;DB;DP=15;Dels=0.0;FS=2.081;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.562;QD=11.08;ReadPosRankSum=0.521;SNPEFF_AMINO_ACID_CHANGE=P151;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_62728764_62728983;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KANK4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000371150 GT:AD:DP:GQ:PL 0/1:8,7:15:99:196,0,247
1 62729015 rs2262106 G A 85.44 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.421;DB;DP=8;Dels=0.0;FS=3.68;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.638;QD=10.68;ReadPosRankSum=0.922;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KANK4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354381 GT:AD:DP:GQ:PL 0/1:4,4:8:99:115,0,138
1 62733939 rs11207950 G A 136.57 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=0.817;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.99;MQ0=0;MQRankSum=-0.391;QD=6.5;ReadPosRankSum=-0.249;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KANK4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354381 GT:AD:DP:GQ:PL 0/1:12,9:21:99:167,0,381
1 62737372 rs4609464 A C 36.41 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.166;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.386;QD=3.64;ReadPosRankSum=-2.166;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KANK4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354381 GT:AD:DP:GQ:PL 0/1:7,3:10:66.40:66,0,255
1 62738904 rs7516290 T C 140.77 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.811;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.63;MQ0=0;MQRankSum=-1.656;QD=8.28;ReadPosRankSum=-0.935;SNPEFF_AMINO_ACID_CHANGE=P624;SNPEFF_CODON_CHANGE=ccA/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_62738876_62740759;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KANK4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000371153 GT:AD:DP:GQ:PL 0/1:6,9:17:99:171,0,116
1 62739198 rs17855078 G A 638.62 PASS AB=0.415;AC=1;AF=0.50;AN=2;BaseQRankSum=1.919;DB;DP=41;Dels=0.0;FS=1.333;HRun=0;HaplotypeScore=0.8941;MQ=59.44;MQ0=0;MQRankSum=1.495;QD=15.58;ReadPosRankSum=0.569;SNPEFF_AMINO_ACID_CHANGE=S526;SNPEFF_CODON_CHANGE=agC/agT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_62738876_62740759;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KANK4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000371153 GT:AD:DP:GQ:PL 0/1:17,24:41:99:669,0,460
1 62740065 rs12127930 A G 228.33 PASS AB=0.594;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.998;DB;DP=32;Dels=0.0;FS=1.489;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.767;QD=7.14;ReadPosRankSum=-0.269;SNPEFF_AMINO_ACID_CHANGE=G237;SNPEFF_CODON_CHANGE=ggT/ggC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_62738876_62740759;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KANK4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000371153 GT:AD:DP:GQ:PL 0/1:19,13:32:99:258,0,643
1 62740446 rs2666506 T C 623.35 PASS AB=0.41;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=1.643;QD=15.98;ReadPosRankSum=-1.195;SNPEFF_AMINO_ACID_CHANGE=P110;SNPEFF_CODON_CHANGE=ccA/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_62738876_62740759;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KANK4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000371153 GT:AD:DP:GQ:PL 0/1:16,23:39:99:653,0,436
1 62740449 rs2666507 T C 649.41 PASS AB=0.41;AC=1;AF=0.50;AN=2;BaseQRankSum=0.06;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=1.613;QD=16.65;ReadPosRankSum=-0.956;SNPEFF_AMINO_ACID_CHANGE=S109;SNPEFF_CODON_CHANGE=tcA/tcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_62738876_62740759;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KANK4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000371153 GT:AD:DP:GQ:PL 0/1:16,23:39:99:679,0,417
1 62740930 rs2666508 A G 596.56 PASS AB=0.579;AC=1;AF=0.50;AN=2;BaseQRankSum=3.055;DB;DP=57;Dels=0.0;FS=2.809;HRun=2;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=0.571;QD=10.47;ReadPosRankSum=0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KANK4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354381 GT:AD:DP:GQ:PL 0/1:33,24:57:99:627,0,1059
1 62741049 rs11207955 C A 33.83 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.72;QD=5.64;ReadPosRankSum=0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KANK4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354381 GT:AD:DP:GQ:PL 0/1:4,2:6:63.82:64,0,130
1 62912919 rs10158897 C T 140.05 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.133;DB;DP=10;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=57.66;MQ0=0;MQRankSum=0.741;QD=14.01;ReadPosRankSum=-1.447;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000452143 GT:AD:DP:GQ:PL 0/1:4,6:10:99:170,0,141
1 62939634 rs1168007 C T 712.98 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.53;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DOCK7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467758 GT:AD:DP:GQ:PL 1/1:0,19:19:54.18:746,54,0
1 62941168 rs11330816 GA G 59.24 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=7;FS=0.0;HRun=12;HaplotypeScore=17.763;IndelType=D;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=8.46;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DOCK7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000251157 GT:AD:DP:GQ:PL 0/1:2,5:7:12.52:98,0,13
1 62943264 rs1168008 C T 1154.54 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.4942;MQ=60.0;MQ0=0;QD=37.24;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DOCK7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000251157 GT:AD:DP:GQ:PL 1/1:0,31:31:87.29:1188,87,0
1 62953183 rs1168025 C T 1177.78 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.99;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DOCK7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479983 GT:AD:DP:GQ:PL 1/1:0,31:31:90.28:1211,90,0
1 62954372 rs112517122 G GA 150.97 PASS AB=0.733;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.861;DB;DP=22;FS=0.0;HRun=10;HaplotypeScore=63.0013;IndelType=I;MQ=58.95;MQ0=0;MQRankSum=0.109;QD=6.86;ReadPosRankSum=1.05;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DOCK7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479983 GT:AD:DP:GQ:PL 0/1:14,7:22:99:190,0,257
1 62960101 rs10889335 A G 613.22 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.669;DB;DP=36;Dels=0.0;FS=1.301;HRun=0;HaplotypeScore=0.9996;MQ=60.0;MQ0=0;MQRankSum=-0.289;QD=17.03;ReadPosRankSum=-1.155;SNPEFF_AMINO_ACID_CHANGE=L1657;SNPEFF_CODON_CHANGE=Ttg/Ctg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_62959946_62960138;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DOCK7;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000340370 GT:AD:DP:GQ:PL 0/1:15,21:36:99:643,0,457
1 62960250 rs1168041 T C 105.97 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=6;Dels=0.0;FS=4.771;HRun=2;HaplotypeScore=0.0;MQ=61.78;MQ0=0;MQRankSum=-1.38;QD=17.66;ReadPosRankSum=1.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DOCK7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000251157 GT:AD:DP:GQ:PL 0/1:2,4:6:64.35:136,0,64
1 62961928 rs1168038 T C 617.23 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DOCK7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000251157 GT:AD:DP:GQ:PL 1/1:0,16:16:48.16:650,48,0
1 62970184 rs1168027 T C 146.25 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=0.143;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.29;MQ0=0;MQRankSum=-0.825;QD=13.3;ReadPosRankSum=0.143;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DOCK7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000251157 GT:AD:DP:GQ:PL 0/1:5,6:11:99:176,0,173
1 62973795 rs1184865 A G 158.71 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.467;DB;DP=12;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.259;QD=13.23;ReadPosRankSum=-1.073;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DOCK7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000251157 GT:AD:DP:GQ:PL 0/1:6,6:12:99:189,0,211
1 62976472 rs1168043 T G 84.43 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.11;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DOCK7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000251157 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:116,9,0
1 63001120 rs1168018 A C 444.53 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=0.021;DB;DP=30;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.06;QD=14.82;ReadPosRankSum=-1.06;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DOCK7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000251157 GT:AD:DP:GQ:PL 0/1:14,16:30:99:475,0,460
1 63027411 rs5774610 AG A 2091.83 PASS AC=2;AF=1.00;AN=2;DB;DP=51;FS=0.0;HRun=1;HaplotypeScore=125.9285;IndelType=D;MQ=59.74;MQ0=0;QD=41.02;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DOCK7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000251157 GT:AD:DP:GQ:PL 1/1:0,51:51:99:2134,154,0
1 63044464 rs11207993 C T 537.28 PASS AB=0.596;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.721;DB;DP=57;Dels=0.0;FS=6.203;HRun=1;HaplotypeScore=0.0;MQ=53.27;MQ0=0;MQRankSum=1.27;QD=9.43;ReadPosRankSum=-0.893;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DOCK7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000251157 GT:AD:DP:GQ:PL 0/1:34,23:57:99:567,0,924
1 63050598 rs3850634 T G 374.27 PASS AB=0.52;AC=1;AF=0.50;AN=2;BaseQRankSum=3.128;DB;DP=25;Dels=0.0;FS=3.188;HRun=2;HaplotypeScore=0.9983;MQ=58.13;MQ0=0;MQRankSum=0.571;QD=14.97;ReadPosRankSum=0.571;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DOCK7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000251157 GT:AD:DP:GQ:PL 0/1:13,12:25:99:404,0,408
1 63070537 rs67461605 AGTTAATGTG A 992.71 PASS AB=0.674;AC=1;AF=0.50;AN=2;BaseQRankSum=4.48;DB;DP=29;FS=3.174;HRun=0;HaplotypeScore=244.7881;IndelType=D;MQ=51.15;MQ0=0;MQRankSum=-2.596;QD=34.23;ReadPosRankSum=0.115;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANGPTL3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000482591 GT:AD:DP:GQ:PL 0/1:15,14:29:99:1032,0,1650
1 63085483 rs112353234 T TA 163.80 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.78;DB;DP=21;FS=0.0;HRun=10;HaplotypeScore=77.8951;IndelType=I;MQ=59.42;MQ0=0;MQRankSum=-0.337;QD=7.8;ReadPosRankSum=0.914;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DOCK7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000251157 GT:AD:DP:GQ:PL 0/1:12,9:21:99:203,0,170
1 63090858 rs6587980 C T 716.97 PASS AB=0.405;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.202;DB;DP=37;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.046;QD=19.38;ReadPosRankSum=0.51;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DOCK7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000251157 GT:AD:DP:GQ:PL 0/1:15,22:37:99:747,0,521
1 63099023 rs10889352 T C 225.59 PASS AB=0.55;AC=1;AF=0.50;AN=2;BaseQRankSum=2.507;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.06;MQ0=0;MQRankSum=1.216;QD=11.28;ReadPosRankSum=0.76;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DOCK7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000251157 GT:AD:DP:GQ:PL 0/1:11,9:20:99:256,0,364
1 63113511 rs746735 C A 1102.31 PASS AB=0.507;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.825;DB;DP=67;Dels=0.0;FS=9.435;HRun=1;HaplotypeScore=0.0;MQ=59.66;MQ0=0;MQRankSum=-1.072;QD=16.45;ReadPosRankSum=1.323;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DOCK7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000251157 GT:AD:DP:GQ:PL 0/1:34,33:67:99:1132,0,1126
1 63113689 rs1168088 T C 979.15 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.66;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DOCK7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000251157 GT:AD:DP:GQ:PL 1/1:0,26:26:78.25:1012,78,0
1 63113719 rs1168089 T C 680.45 PASS AB=0.412;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.192;DB;DP=34;Dels=0.0;FS=7.899;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.157;QD=20.01;ReadPosRankSum=1.382;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DOCK7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000251157 GT:AD:DP:GQ:PL 0/1:14,20:34:99:710,0,408
1 63119256 rs12117388 T C 192.66 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=1.422;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.248;QD=21.41;ReadPosRankSum=0.573;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DOCK7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000251157 GT:AD:DP:GQ:PL 0/1:3,6:9:91.66:223,0,92
1 63836513 rs34542411 C G 236.48 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.78;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_1_63836441_63836730;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALG6;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000263440 GT:AD:DP:GQ:PL 1/1:0,7:7:21.06:269,21,0
1 63872032 rs35383149 T C 789.25 PASS AB=0.475;AC=1;AF=0.50;AN=2;BaseQRankSum=1.48;DB;DP=59;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9958;MQ=59.61;MQ0=0;MQRankSum=0.463;QD=13.38;ReadPosRankSum=1.101;SNPEFF_AMINO_ACID_CHANGE=Y131H;SNPEFF_CODON_CHANGE=Tac/Cac;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_63871988_63872070;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALG6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000263440 GT:AD:DP:GQ:PL 0/1:28,31:59:99:819,0,697
1 63872600 rs12755065 T C 201.31 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.55;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALG6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000487136 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:234,18,0
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1 63881552 rs4630153 C T 1183.85 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.36;SNPEFF_AMINO_ACID_CHANGE=S304F;SNPEFF_CODON_CHANGE=tCt/tTt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_63881544_63881628;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALG6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000371108 GT:AD:DP:GQ:PL 1/1:0,39:39:90.30:1217,90,0
1 63885222 rs4550089 T G 863.94 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALG6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263440 GT:AD:DP:GQ:PL 1/1:0,24:24:72.22:897,72,0
1 63912546 rs12760364 G T 657.85 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=10;HaplotypeScore=0.0;MQ=58.59;MQ0=0;QD=19.93;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ITGB3BP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283568 GT:AD:DP:GQ:PL 1/1:0,33:33:57.17:691,57,0
1 63991140 rs9436686 T C 893 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.21;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=EFCAB7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371088 GT:AD:DP:GQ:PL 1/1:0,24:24:69.22:926,69,0
1 63991490 rs35446626 G A 204.95 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.16;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=EFCAB7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371088 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:238,18,0
1 63997633 rs9804078 A T 1329.37 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.33;DB;DP=43;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=59.57;MQ0=0;MQRankSum=-0.04;QD=30.92;ReadPosRankSum=0.282;SNPEFF_AMINO_ACID_CHANGE=S110;SNPEFF_CODON_CHANGE=tcA/tcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_63997491_63997702;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=EFCAB7;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000371088 GT:AD:DP:GQ:PL 1/1:1,42:43:71.35:1362,71,0
1 63999826 rs6693255 C T 2636.55 PASS AC=2;AF=1.00;AN=2;DB;DP=81;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.14;MQ0=0;QD=32.55;SNPEFF_AMINO_ACID_CHANGE=T248I;SNPEFF_CODON_CHANGE=aCa/aTa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_63999766_63999887;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=EFCAB7;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000371088 GT:AD:DP:GQ:PL 1/1:0,81:81:99:2670,196,0
1 63999868 rs6657480 T C 1868.27 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.5226;MQ=58.8;MQ0=0;QD=32.21;SNPEFF_AMINO_ACID_CHANGE=M262T;SNPEFF_CODON_CHANGE=aTg/aCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_63999766_63999887;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=EFCAB7;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000371088 GT:AD:DP:GQ:PL 1/1:0,58:58:99:1901,153,0
1 63999891 rs6657559 T C 1754.49 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.05;MQ0=0;QD=36.55;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=EFCAB7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000480886 GT:AD:DP:GQ:PL 1/1:0,48:48:99:1787,135,0
1 64015217 rs217485 G A 2144.10 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.029;DB;DP=66;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=49.94;MQ0=1;MQRankSum=1.083;QD=32.49;ReadPosRankSum=1.678;SNPEFF_AMINO_ACID_CHANGE=V42I;SNPEFF_CODON_CHANGE=Gtt/Att;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_64015160_64015405;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DLEU2L;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000340052 GT:AD:DP:GQ:PL 1/1:1,65:66:99:2177,168,0
1 64021096 rs2273367 G A 1785.10 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.053;DB;DP=53;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9665;MQ=59.56;MQ0=0;MQRankSum=-1.189;QD=33.68;ReadPosRankSum=-1.257;SNPEFF_AMINO_ACID_CHANGE=R375K;SNPEFF_CODON_CHANGE=aGg/aAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_64021029_64021186;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=EFCAB7;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000371088 GT:AD:DP:GQ:PL 1/1:1,52:53:99:1818,105,0
1 64022581 rs12402761 C T 38.32 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=38.52;MQ0=0;QD=7.66;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=EFCAB7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371088 GT:AD:DP:GQ:PL 1/1:0,3:5:6.02:70,6,0
1 64022708 rs35668099 C CA 307.02 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.405;DB;DP=26;FS=0.0;HRun=16;HaplotypeScore=236.7929;IndelType=I;MQ=53.64;MQ0=0;MQRankSum=0.298;QD=11.81;ReadPosRankSum=0.638;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=EFCAB7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371088 GT:AD:DP:GQ:PL 1/1:13,13:26:1.18:345,1,0
1 64036838 rs4915903 G A 623.42 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.55;MQ0=0;QD=38.96;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=EFCAB7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460678 GT:AD:DP:GQ:PL 1/1:0,16:16:48.16:656,48,0
1 64038107 rs6588050 G T 1023.17 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.11;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=EFCAB7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460678 GT:AD:DP:GQ:PL 1/1:0,30:30:78.26:1056,78,0
1 64089017 rs74603309 C G 478.23 PASS AB=0.525;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.09;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9832;MQ=60.0;MQ0=0;MQRankSum=-0.46;QD=11.96;ReadPosRankSum=-1.788;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PGM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371084 GT:AD:DP:GQ:PL 0/1:21,19:40:99:508,0,684
1 64095042 rs855313 G T 471.53 PASS AB=0.628;AC=1;AF=0.50;AN=2;BaseQRankSum=5.167;DB;DP=43;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.46;MQ0=0;MQRankSum=-0.117;QD=10.97;ReadPosRankSum=-1.023;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PGM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371083 GT:AD:DP:GQ:PL 0/1:27,16:43:99:502,0,808
1 64095111 rs855314 A G 927.71 PASS AB=0.631;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.042;DB;DP=103;Dels=0.0;FS=1.738;HRun=0;HaplotypeScore=0.5784;MQ=59.78;MQ0=0;MQRankSum=-1.218;QD=8.92;ReadPosRankSum=-0.891;SNPEFF_AMINO_ACID_CHANGE=I106V;SNPEFF_CODON_CHANGE=Atc/Gtc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_64095096_64095258;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PGM1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000371083 GT:AD:DP:GQ:PL 0/1:65,38:103:99:958,0,1981
1 64095862 rs72681118 G A 87.64 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=0.087;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.524;QD=4.38;ReadPosRankSum=-1.135;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PGM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371083 GT:AD:DP:GQ:PL 0/1:15,5:20:99:118,0,526
1 64097432 rs1126728 C T 1246.06 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=3.478;DB;DP=82;Dels=0.0;FS=1.814;HRun=0;HaplotypeScore=1.9995;MQ=60.0;MQ0=0;MQRankSum=0.325;QD=15.2;ReadPosRankSum=0.77;SNPEFF_AMINO_ACID_CHANGE=R197C;SNPEFF_CODON_CHANGE=Cgt/Tgt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_64097328_64097453;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PGM1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000538673 GT:AD:DP:GQ:PL 0/1:41,41:82:99:1276,0,1188
1 64100478 rs6588052 A T 1268.60 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.912;DB;DP=39;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=1.7885;MQ=60.0;MQ0=0;MQRankSum=0.274;QD=32.53;ReadPosRankSum=1.094;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PGM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371083 GT:AD:DP:GQ:PL 1/1:1,37:39:64.69:1302,65,0
1 64100884 rs2301057 A G 54.05 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.02;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PGM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371083 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:85,6,0
1 64102114 rs2269248 A G 1075.74 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.059;DB;DP=37;Dels=0.0;FS=5.563;HRun=0;HaplotypeScore=6.9096;MQ=58.35;MQ0=0;MQRankSum=1.54;QD=29.07;ReadPosRankSum=0.866;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PGM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371083 GT:AD:DP:GQ:PL 1/1:1,36:37:84.26:1109,84,0
1 64104099 rs855309 A G 43.42 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=47.12;MQ0=0;QD=21.71;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PGM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371083 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:75,6,0
1 64474804 rs285399 C T 350.12 PASS AB=0.316;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.272;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=59.01;MQ0=0;MQRankSum=-1.096;QD=18.43;ReadPosRankSum=0.833;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ROR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371079 GT:AD:DP:GQ:PL 0/1:6,13:19:99:380,0,172
1 64515379 rs1772626 C T 2862.22 PASS AC=2;AF=1.00;AN=2;DB;DP=78;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.7;SNPEFF_AMINO_ACID_CHANGE=L60;SNPEFF_CODON_CHANGE=ctC/ctT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_64515363_64515650;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ROR1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000371079 GT:AD:DP:GQ:PL 1/1:0,78:78:99:2895,214,0
1 64608329 rs2762833 G T 1479.76 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.94;SNPEFF_AMINO_ACID_CHANGE=A390;SNPEFF_CODON_CHANGE=gcG/gcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_64608088_64608333;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ROR1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000371079 GT:AD:DP:GQ:PL 1/1:0,39:39:99:1513,114,0
1 64624612 rs4362024 G A 1033.21 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.27;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ROR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371079 GT:AD:DP:GQ:PL 1/1:0,27:27:78.26:1066,78,0
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1 64680324 rs7533812 G T 76.56 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=19.14;ReadPosRankSum=-0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBE2U;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371076 GT:AD:DP:GQ:PL 0/1:1,3:4:30.61:107,0,31
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1 65003778 rs305555 T C 631.95 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.71;MQ0=0;QD=35.11;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACHD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000290039 GT:AD:DP:GQ:PL 1/1:0,18:18:48.16:665,48,0
1 65016349 rs2164571 A T 1165.30 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=60.0;MQ0=0;QD=27.75;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACHD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000290039 GT:AD:DP:GQ:PL 1/1:0,42:42:87.29:1198,87,0
1 65068638 rs6665437 T C 513.58 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.53;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACHD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000290039 GT:AD:DP:GQ:PL 1/1:0,18:18:48.10:547,48,0
1 65098148 rs893080 T C 760.18 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.2;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACHD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000290039 GT:AD:DP:GQ:PL 1/1:0,21:21:60.19:793,60,0
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1 65113568 rs6588100 T C 669.57 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.988;MQ=59.25;MQ0=0;QD=26.78;SNPEFF_AMINO_ACID_CHANGE=M363T;SNPEFF_CODON_CHANGE=aTg/aCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_65113484_65113717;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACHD1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000290039 GT:AD:DP:GQ:PL 1/1:0,25:25:60.13:703,60,0
1 65301611 rs2780815 T G 34.92 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.231;QD=6.98;ReadPosRankSum=-0.358;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=JAK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481702 GT:AD:DP:GQ:PL 0/1:3,2:5:64.91:65,0,109
1 65301669 rs2254002 C A 147.63 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.309;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.05;MQ0=0;MQRankSum=-0.529;QD=12.3;ReadPosRankSum=0.135;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=JAK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481702 GT:AD:DP:GQ:PL 0/1:5,7:12:99:178,0,180
1 65305102 rs10539130 TCA T 203.11 PASS AC=2;AF=1.00;AN=2;DB;DP=5;FS=0.0;HRun=0;HaplotypeScore=16.6146;IndelType=D;MQ=60.0;MQ0=0;QD=40.62;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=JAK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465376 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:245,15,0
1 65307409 rs310247 G A 70.69 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=0.322;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.221;QD=8.84;ReadPosRankSum=-0.684;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=JAK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471473 GT:AD:DP:GQ:PL 0/1:5,3:8:99:101,0,166
1 65310489 rs2230588 T C 414.22 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.676;DB;DP=30;Dels=0.0;FS=8.916;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.069;QD=13.81;ReadPosRankSum=-0.589;SNPEFF_AMINO_ACID_CHANGE=P733;SNPEFF_CODON_CHANGE=ccA/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_65310437_65310572;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=JAK1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000342505 GT:AD:DP:GQ:PL 0/1:16,14:30:99:444,0,468
1 65316675 rs310216 G A 103.44 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.495;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.198;QD=14.78;ReadPosRankSum=0.922;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=JAK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342505 GT:AD:DP:GQ:PL 0/1:2,5:7:65.24:133,0,65
1 65321388 rs310229 G A 143.72 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.387;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.749;QD=13.07;ReadPosRankSum=-1.031;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=JAK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000494904 GT:AD:DP:GQ:PL 0/1:6,5:11:99:174,0,180
1 65323142 rs310227 C T 31.64 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=7.91;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=JAK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000494904 GT:AD:DP:GQ:PL 0/1:2,2:4:61.63:62,0,69
1 65325970 rs310224 C T 360.56 PASS AB=0.409;AC=1;AF=0.50;AN=2;BaseQRankSum=1.412;DB;DP=22;Dels=0.0;FS=2.702;HRun=0;HaplotypeScore=0.7887;MQ=59.15;MQ0=0;MQRankSum=1.123;QD=16.39;ReadPosRankSum=0.471;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=JAK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342505 GT:AD:DP:GQ:PL 0/1:9,13:22:99:391,0,245
1 65684425 rs11208611 C T 645.75 PASS AB=0.517;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.692;DB;DP=58;Dels=0.0;FS=1.209;HRun=3;HaplotypeScore=0.0;MQ=52.76;MQ0=0;MQRankSum=1.035;QD=11.13;ReadPosRankSum=-0.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AK4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327299 GT:AD:DP:GQ:PL 0/1:30,28:58:99:676,0,878
1 65775187 rs7528227 G C 81.90 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=16.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=DNAJC6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263441 GT:AD:DP:GQ:PL 1/1:0,5:5:9.03:114,9,0
1 65895927 rs9436301 T C 156.62 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.32;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LEPROT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000497874 GT:AD:DP:GQ:PL 1/1:0,5:5:15.04:189,15,0
1 65897747 rs1887285 A G 77.06 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.988;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.406;QD=12.84;ReadPosRankSum=0.988;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LEPROT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484243 GT:AD:DP:GQ:PL 0/1:3,3:6:99:107,0,103
1 66036501 rs2186248 G T 715.48 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=59.17;MQ0=0;QD=25.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LEPR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344610 GT:AD:DP:GQ:PL 1/1:0,28:28:60.19:748,60,0
1 66062325 rs3828034 A G 278.05 PASS AB=0.412;AC=1;AF=0.50;AN=2;BaseQRankSum=3.172;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9992;MQ=58.63;MQ0=0;MQRankSum=-1.025;QD=16.36;ReadPosRankSum=-0.634;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LEPR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344610 GT:AD:DP:GQ:PL 0/1:7,10:17:99:308,0,191
1 66071082 rs79035087 T A 68.92 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=17.23;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LEPR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344610 GT:AD:DP:GQ:PL 0/1:1,3:4:17.59:99,0,18
1 66075952 rs8179183 G C 114.11 PASS AB=0.786;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.876;DB;DP=28;Dels=0.0;FS=1.983;HRun=0;HaplotypeScore=1.6918;MQ=60.0;MQ0=0;MQRankSum=-1.036;QD=4.08;ReadPosRankSum=-0.42;SNPEFF_AMINO_ACID_CHANGE=K656N;SNPEFF_CODON_CHANGE=aaG/aaC;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_66075897_66075979;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LEPR;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000344610 GT:AD:DP:GQ:PL 0/1:22,6:28:99:144,0,716
1 66085433 rs3790437 A G 52.28 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LEPR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344610 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
1 66085525 rs3790438 T A 173.98 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=2.259;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.66;MQ0=0;MQRankSum=0.968;QD=12.43;ReadPosRankSum=1.356;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LEPR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344610 GT:AD:DP:GQ:PL 0/1:8,6:14:99:204,0,271
1 66085574 rs3790439 T A 299.95 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.758;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.95;MQ0=0;MQRankSum=-0.165;QD=13.63;ReadPosRankSum=-0.824;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LEPR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344610 GT:AD:DP:GQ:PL 0/1:12,10:22:99:330,0,396
1 66088701 rs12067936 C A 168.88 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=3.308;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9996;MQ=60.0;MQ0=0;MQRankSum=-0.683;QD=9.93;ReadPosRankSum=-1.418;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LEPR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344610 GT:AD:DP:GQ:PL 0/1:8,9:17:99:199,0,236
1 66092017 rs6588153 T A 68.90 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.421;DB;DP=8;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.421;QD=8.61;ReadPosRankSum=-0.922;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LEPR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344610 GT:AD:DP:GQ:PL 0/1:4,4:8:98.90:99,0,144
1 66094928 rs1938499 A T 401.79 PASS AB=0.487;AC=1;AF=0.50;AN=2;BaseQRankSum=0.688;DB;DP=39;Dels=0.0;FS=0.0;HRun=11;HaplotypeScore=0.8321;MQ=59.41;MQ0=0;MQRankSum=-1.026;QD=10.3;ReadPosRankSum=0.407;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LEPR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344610 GT:AD:DP:GQ:PL 0/1:19,20:39:99:432,0,588
1 66099013 rs17415296 C A 32.60 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.72;QD=5.43;ReadPosRankSum=0.72;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LEPR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371059 GT:AD:DP:GQ:PL 0/1:4,2:6:62.59:63,0,146
1 66102257 rs1805096 G A 1457.66 PASS AB=0.484;AC=1;AF=0.50;AN=2;BaseQRankSum=6.326;DB;DP=95;Dels=0.0;FS=8.071;HRun=0;HaplotypeScore=1.8664;MQ=59.8;MQ0=0;MQRankSum=-0.346;QD=15.34;ReadPosRankSum=0.771;SNPEFF_AMINO_ACID_CHANGE=P1019;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_66101874_66107242;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LEPR;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000349533 GT:AD:DP:GQ:PL 0/1:46,49:95:99:1488,0,1408
1 66102755 rs70940806 A ATTACT 1079.08 PASS AB=0.727;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.912;DB;DP=24;FS=0.0;HRun=0;HaplotypeScore=111.698;IndelType=I;MQ=51.98;MQ0=0;MQRankSum=-2.144;QD=44.96;ReadPosRankSum=-0.811;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LEPR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371060 GT:AD:DP:GQ:PL 0/1:15,8:24:99:1118,0,631
1 66828699 rs783040 T C 51.16 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDE4B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329654 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
1 66829262 rs783039 A G 864.63 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9578;MQ=60.0;MQ0=0;QD=30.88;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDE4B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000524999 GT:AD:DP:GQ:PL 1/1:0,28:28:66.21:898,66,0
1 66831370 rs783036 G A 93.91 PASS AB=0.786;AC=1;AF=0.50;AN=2;BaseQRankSum=0.967;DB;DP=28;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.218;QD=3.35;ReadPosRankSum=1.592;SNPEFF_AMINO_ACID_CHANGE=E202;SNPEFF_CODON_CHANGE=gaG/gaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_66831350_66831449;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDE4B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000480109 GT:AD:DP:GQ:PL 0/1:22,6:28:99:124,0,702
1 67000103 rs1445578 A G 399.46 PASS AB=0.37;AC=1;AF=0.50;AN=2;BaseQRankSum=1.431;DB;DP=27;Dels=0.0;FS=3.916;HRun=0;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=-1.481;QD=14.79;ReadPosRankSum=0.176;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SGIP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000237247 GT:AD:DP:GQ:PL 0/1:10,17:27:99:429,0,296
1 67000162 rs1445579 T G 252.83 PASS AB=0.385;AC=1;AF=0.50;AN=2;BaseQRankSum=1.256;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.817;QD=19.45;ReadPosRankSum=-2.68;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SGIP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000237247 GT:AD:DP:GQ:PL 0/1:5,8:13:99:283,0,161
1 67098974 rs6701907 A G 41.96 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.026;QD=10.49;ReadPosRankSum=1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SGIP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000237247 GT:AD:DP:GQ:PL 0/1:2,2:4:69.73:72,0,70
1 67101802 rs7546825 A G 145.09 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.336;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.453;QD=14.51;ReadPosRankSum=-1.268;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SGIP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000237247 GT:AD:DP:GQ:PL 0/1:5,5:10:99:175,0,177
1 67109335 rs7526812 A G 1115.68 PASS AB=0.494;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.314;DB;DP=79;Dels=0.0;FS=11.676;HRun=1;HaplotypeScore=0.0;MQ=59.71;MQ0=0;MQRankSum=-0.155;QD=14.12;ReadPosRankSum=-0.935;SNPEFF_AMINO_ACID_CHANGE=K106R;SNPEFF_CODON_CHANGE=aAg/aGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_67109227_67109402;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SGIP1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000371036 GT:AD:DP:GQ:PL 0/1:39,40:79:99:1146,0,1245
1 67126114 rs12094526 A G 332.22 PASS AB=0.353;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.357;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=0.452;QD=19.54;ReadPosRankSum=0.452;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SGIP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000237247 GT:AD:DP:GQ:PL 0/1:6,11:17:99:362,0,207
1 67136537 rs6686606 C T 104.25 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.741;DB;DP=11;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.866;QD=9.48;ReadPosRankSum=1.568;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AL139147.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000502413 GT:AD:DP:GQ:PL 0/1:6,5:11:99:134,0,212
1 67136845 rs11208942 G T 133.68 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.532;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.143;QD=12.15;ReadPosRankSum=-0.387;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AL139147.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000502413 GT:AD:DP:GQ:PL 0/1:6,5:11:99:164,0,213
1 67145156 rs11208945 T A 176.98 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=0.101;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.935;QD=13.61;ReadPosRankSum=1.093;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SGIP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468286 GT:AD:DP:GQ:PL 0/1:7,6:13:99:207,0,244
1 67145322 rs10889644 C A 1879.37 PASS AB=0.39;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.135;DB;DP=105;Dels=0.0;FS=1.894;HRun=1;HaplotypeScore=3.8626;MQ=60.0;MQ0=0;MQRankSum=0.47;QD=17.9;ReadPosRankSum=-1.363;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SGIP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468286 GT:AD:DP:GQ:PL 0/1:41,64:105:99:1909,0,1227
1 67154730 rs111593948 CAA C 362.18 PASS AB=0.641;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.828;DB;DP=81;FS=0.0;HRun=17;HaplotypeScore=564.3039;IndelType=D;MQ=52.74;MQ0=1;MQRankSum=0.646;QD=4.42;ReadPosRankSum=2.754;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SGIP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000237247 GT:AD:DP:GQ:PL 0/1:35,27:81:99:401,0,632
1 67160336 rs2146904 A G 227.20 PASS AB=0.3;AC=1;AF=0.50;AN=2;BaseQRankSum=0.296;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.818;QD=22.72;ReadPosRankSum=-0.296;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SGIP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000480548 GT:AD:DP:GQ:PL 0/1:3,7:10:94.60:257,0,95
1 67195184 rs1032635 C G 582.63 PASS AB=0.433;AC=1;AF=0.50;AN=2;BaseQRankSum=3.264;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.795;QD=19.42;ReadPosRankSum=-0.042;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SGIP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000237247 GT:AD:DP:GQ:PL 0/1:13,17:30:99:613,0,431
1 67195192 rs1032634 C G 471.17 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=3.342;DB;DP=27;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.317;QD=17.45;ReadPosRankSum=-0.024;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SGIP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000237247 GT:AD:DP:GQ:PL 0/1:12,15:27:99:501,0,369
1 67205327 rs473470 C T 81.66 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.731;QD=16.33;ReadPosRankSum=-0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SGIP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000237247 GT:AD:DP:GQ:PL 0/1:1,4:5:30.61:112,0,31
1 67266756 rs549148 T A 516.61 PASS AB=0.64;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.849;DB;DP=50;Dels=0.0;FS=6.253;HRun=0;HaplotypeScore=0.0;MQ=59.54;MQ0=0;MQRankSum=-0.495;QD=10.33;ReadPosRankSum=-0.01;SNPEFF_AMINO_ACID_CHANGE=Q50L;SNPEFF_CODON_CHANGE=cAg/cTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_67266730_67266939;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INSL5;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000304526 GT:AD:DP:GQ:PL 0/1:32,18:50:99:547,0,1012
1 67279881 rs74609208 C A 216.17 PASS AB=0.438;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.423;DB;DP=16;Dels=0.0;FS=5.825;HRun=1;HaplotypeScore=1.5616;MQ=60.0;MQ0=0;MQRankSum=-0.953;QD=13.51;ReadPosRankSum=1.164;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR78;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371026 GT:AD:DP:GQ:PL 0/1:7,9:16:99:246,0,208
1 67288045 rs482082 C T 621.73 PASS AB=0.645;AC=1;AF=0.50;AN=2;BaseQRankSum=2.726;DB;DP=63;Dels=0.0;FS=2.296;HRun=0;HaplotypeScore=0.9997;MQ=59.27;MQ0=0;MQRankSum=0.849;QD=9.87;ReadPosRankSum=-0.008;SNPEFF_AMINO_ACID_CHANGE=R545Q;SNPEFF_CODON_CHANGE=cGg/cAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_67288044_67288200;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR78;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000431318 GT:AD:DP:GQ:PL 0/1:40,22:63:99:652,0,1115
1 67288229 rs41300323 C A 123.78 PASS AB=0.684;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.57;DB;DP=19;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.132;QD=6.51;ReadPosRankSum=0.745;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR78;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371026 GT:AD:DP:GQ:PL 0/1:13,6:19:99:154,0,479
1 67292473 rs34718535 A AT 1507.67 PASS AB=0.682;AC=1;AF=0.50;AN=2;BaseQRankSum=7.223;DB;DP=73;FS=2.853;HRun=1;HaplotypeScore=299.4537;IndelType=I;MQ=58.92;MQ0=0;MQRankSum=-0.731;QD=20.65;ReadPosRankSum=0.144;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR78;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371026 GT:AD:DP:GQ:PL 0/1:39,34:73:99:1547,0,1187
1 67292478 rs36067642 T A 910.05 PASS AB=0.479;AC=1;AF=0.50;AN=2;BaseQRankSum=0.723;DB;DP=73;Dels=0.0;FS=1.145;HRun=0;HaplotypeScore=0.0;MQ=58.92;MQ0=0;MQRankSum=0.105;QD=12.47;ReadPosRankSum=-0.635;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR78;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371026 GT:AD:DP:GQ:PL 0/1:35,38:73:99:940,0,1177
1 67303303 rs6698076 A G 104.41 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.533;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.133;QD=7.46;ReadPosRankSum=-0.933;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR78;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371026 GT:AD:DP:GQ:PL 0/1:9,5:14:99:134,0,324
1 67327894 rs34182923 A G 702.57 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=3.825;DB;DP=60;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=59.69;MQ0=0;MQRankSum=0.355;QD=11.71;ReadPosRankSum=0.053;SNPEFF_AMINO_ACID_CHANGE=S110;SNPEFF_CODON_CHANGE=agT/agC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_67327830_67327985;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR78;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000464352 GT:AD:DP:GQ:PL 0/1:36,24:60:99:733,0,1057
1 67358740 rs7513846 G A 49.99 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.0;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.9632;MQ=47.08;MQ0=0;MQRankSum=1.026;QD=10.0;ReadPosRankSum=1.026;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR78;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000532629 GT:AD:DP:GQ:PL 1/1:2,3:5:6.02:81,6,0
1 67359195 rs3008881 T A 88.61 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=0.278;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.87;MQ0=0;MQRankSum=-0.278;QD=8.06;ReadPosRankSum=0.278;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR78;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371022 GT:AD:DP:GQ:PL 0/1:7,4:11:99:119,0,237
1 67390416 rs3008858 G C 1566.33 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8321;MQ=57.92;MQ0=0;QD=29.01;SNPEFF_AMINO_ACID_CHANGE=C33W;SNPEFF_CODON_CHANGE=tgC/tgG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_67390345_67390529;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR78;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000371022 GT:AD:DP:GQ:PL 1/1:0,54:54:99:1599,129,0
1 67390468 rs1886686 C G 2145.87 PASS AC=2;AF=1.00;AN=2;DB;DP=70;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.03;MQ0=0;QD=30.66;SNPEFF_AMINO_ACID_CHANGE=G16A;SNPEFF_CODON_CHANGE=gGa/gCa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_67390345_67390529;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR78;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000371022 GT:AD:DP:GQ:PL 1/1:0,70:70:99:2179,166,0
1 67394707 rs146880793 AG A 1003.94 PASS AB=0.693;AC=1;AF=0.50;AN=2;BaseQRankSum=5.066;DB;DP=70;FS=0.939;HRun=1;HaplotypeScore=205.191;IndelType=D;MQ=60.37;MQ0=0;MQRankSum=0.357;QD=14.34;ReadPosRankSum=0.393;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MIER1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355977 GT:AD:DP:GQ:PL 0/1:39,31:70:99:1043,0,1639
1 67423997 rs142198730 T TTTCTC 2192.29 PASS AC=2;AF=1.00;AN=2;DB;DP=25;FS=0.0;HRun=0;HaplotypeScore=90.4998;IndelType=I;MQ=48.53;MQ0=0;QD=87.69;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MIER1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355356 GT:AD:DP:GQ:PL 1/1:5,18:25:75.26:2234,75,0
1 67424488 rs112036823 A G 230.56 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.026;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.952;QD=8.54;ReadPosRankSum=1.826;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MIER1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355356 GT:AD:DP:GQ:PL 0/1:18,9:27:99:261,0,604
1 67425311 rs2985794 T G 1371.20 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.78;MQ0=0;QD=36.08;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MIER1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355356 GT:AD:DP:GQ:PL 1/1:0,38:38:99:1404,105,0
1 67425494 rs67912833 A AT 567.82 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-2.132;DB;DP=30;FS=0.0;HRun=11;HaplotypeScore=108.0054;IndelType=I;MQ=57.66;MQ0=0;MQRankSum=1.463;QD=18.93;ReadPosRankSum=-1.045;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MIER1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479067 GT:AD:DP:GQ:PL 1/1:10,20:30:18.02:610,18,0
1 67436446 rs4553158 A G 464.68 PASS AB=0.472;AC=1;AF=0.50;AN=2;BaseQRankSum=2.036;DB;DP=36;Dels=0.0;FS=1.767;HRun=0;HaplotypeScore=0.734;MQ=58.3;MQ0=0;MQRankSum=-0.977;QD=12.91;ReadPosRankSum=-0.116;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MIER1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355356 GT:AD:DP:GQ:PL 0/1:17,19:36:99:495,0,530
1 67474880 rs12061148 T C 140.91 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=0.143;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.466;QD=12.81;ReadPosRankSum=0.466;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC35D1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000235345 GT:AD:DP:GQ:PL 0/1:6,5:11:99:171,0,201
1 67474977 rs2755271 C T 86.97 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.99;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC35D1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000235345 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:119,9,0
1 67487109 rs77253931 T C 154.66 PASS AB=0.588;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.146;DB;DP=17;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=2.726;MQ=58.63;MQ0=0;MQRankSum=0.342;QD=9.1;ReadPosRankSum=-0.927;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC35D1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000235345 GT:AD:DP:GQ:PL 0/1:10,7:17:99:185,0,359
1 67487119 rs2065002 C A 380.56 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=2.079;DB;DP=24;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.8938;MQ=59.03;MQ0=0;MQRankSum=-0.381;QD=15.86;ReadPosRankSum=0.556;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC35D1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000235345 GT:AD:DP:GQ:PL 0/1:10,14:24:99:411,0,325
1 67507734 rs2815375 T A 146.68 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.034;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.09;MQ0=0;MQRankSum=1.034;QD=13.33;ReadPosRankSum=-0.678;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC35D1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000235345 GT:AD:DP:GQ:PL 0/1:4,7:11:99:177,0,129
1 67508080 rs10546548 CCACT C 2976.53 PASS AC=2;AF=1.00;AN=2;DB;DP=55;FS=0.0;HRun=0;HaplotypeScore=285.9361;IndelType=D;MQ=52.86;MQ0=1;QD=53.15;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC35D1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000235345 GT:AD:DP:GQ:PL 1/1:3,53:55:99:3019,157,0
1 67512903 rs1024229 G T 572.75 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.18;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC35D1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000235345 GT:AD:DP:GQ:PL 1/1:0,15:15:45.14:606,45,0
1 67512920 rs1024230 A C 742.45 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.28;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC35D1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000235345 GT:AD:DP:GQ:PL 1/1:0,23:23:60.19:775,60,0
1 67558739 rs6588237 C T 2862.28 PASS AC=2;AF=1.00;AN=2;DB;DP=85;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.34;MQ0=0;QD=33.67;SNPEFF_AMINO_ACID_CHANGE=T384;SNPEFF_CODON_CHANGE=acG/acA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_67557859_67559287;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf141;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000371006 GT:AD:DP:GQ:PL 1/1:0,85:85:99:2895,217,0
1 67560897 rs10889653 A G 610.72 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.71;MQ0=0;QD=33.93;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf141;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371005 GT:AD:DP:GQ:PL 1/1:0,18:18:54.16:644,54,0
1 67560956 rs11208997 C T 1319.76 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.38;MQ0=0;QD=35.67;SNPEFF_AMINO_ACID_CHANGE=V189I;SNPEFF_CODON_CHANGE=Gtc/Atc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_67560918_67561104;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf141;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000371006 GT:AD:DP:GQ:PL 1/1:0,37:37:99:1353,99,0
1 67561265 rs2145812 T A 90.49 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.16;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf141;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371005 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:123,9,0
1 67562106 rs6670381 G T 244.91 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.61;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf141;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371004 GT:AD:DP:GQ:PL 1/1:0,8:8:21.07:278,21,0
1 67568824 rs1885276 G T 415.43 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.77;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf141;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371004 GT:AD:DP:GQ:PL 1/1:0,11:11:33.11:448,33,0
1 67577367 rs6588240 A T 1870.38 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.29;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf141;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371004 GT:AD:DP:GQ:PL 1/1:0,53:53:99:1903,141,0
1 67591347 rs6691094 A G 693.84 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.5224;MQ=58.99;MQ0=0;QD=30.17;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf141;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371003 GT:AD:DP:GQ:PL 1/1:0,23:23:63.18:727,63,0
1 67591660 rs4655520 G A 174.56 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.95;MQ0=0;QD=21.82;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf141;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000371003 GT:AD:DP:GQ:PL 1/1:0,8:8:15.05:207,15,0
1 67633812 rs1884444 G T 705.57 PASS AB=0.558;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.341;DB;DP=53;Dels=0.0;FS=6.693;HRun=0;HaplotypeScore=1.5226;MQ=60.0;MQ0=0;MQRankSum=0.447;QD=13.31;ReadPosRankSum=1.341;SNPEFF_AMINO_ACID_CHANGE=Q3H;SNPEFF_CODON_CHANGE=caG/caT;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_67633775_67633873;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL23R;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000347310 GT:AD:DP:GQ:PL 0/1:29,23:53:99:736,0,880
1 67648294 rs11465788 C T 34.92 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9998;MQ=60.0;MQ0=0;MQRankSum=1.231;QD=6.98;ReadPosRankSum=-0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL23R;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000347310 GT:AD:DP:GQ:PL 0/1:3,2:5:64.91:65,0,111
1 67648460 rs6687620 T C 2217.18 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=59.63;MQ0=0;QD=35.76;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL23R;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000347310 GT:AD:DP:GQ:PL 1/1:0,62:62:99:2250,169,0
1 67666705 rs61780315 A G 260.11 PASS AB=0.267;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.849;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.841;MQ=60.0;MQ0=0;MQRankSum=0.718;QD=17.34;ReadPosRankSum=-1.24;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL23R;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000347310 GT:AD:DP:GQ:PL 0/1:4,11:15:99:290,0,124
1 67672765 rs7539625 G A 709.69 PASS AB=0.447;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.481;DB;DP=47;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.51;MQ0=0;MQRankSum=1.23;QD=15.1;ReadPosRankSum=0.845;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL23R;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000347310 GT:AD:DP:GQ:PL 0/1:21,26:47:99:740,0,630
1 67672911 rs7539643 C T 40.45 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.026;QD=10.11;ReadPosRankSum=1.026;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL23R;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000543799 GT:AD:DP:GQ:PL 0/1:2,2:4:49.46:70,0,49
1 67685116 rs2863212 C T 442.99 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.92;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL23R;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000347310 GT:AD:DP:GQ:PL 1/1:0,12:12:36.11:476,36,0
1 67685387 rs7530511 T C 1948.66 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.65;DB;DP=65;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9997;MQ=59.65;MQ0=0;MQRankSum=0.379;QD=29.98;ReadPosRankSum=1.624;SNPEFF_AMINO_ACID_CHANGE=L169P;SNPEFF_CODON_CHANGE=cTg/cCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_67685257_67685413;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL23R;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000431791 GT:AD:DP:GQ:PL 1/1:1,64:65:99:1982,120,0
1 67685443 rs7518660 G A 580.90 PASS AB=0.512;AC=1;AF=0.50;AN=2;BaseQRankSum=0.013;DB;DP=41;Dels=0.0;FS=1.571;HRun=0;HaplotypeScore=0.0;MQ=58.51;MQ0=0;MQRankSum=0.352;QD=14.17;ReadPosRankSum=-0.091;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL23R;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000347310 GT:AD:DP:GQ:PL 0/1:21,20:41:99:611,0,690
1 67705726 rs10889671 A G 85.77 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.15;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL23R;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000347310 GT:AD:DP:GQ:PL 1/1:0,5:5:9.03:118,9,0
1 67787691 rs17129778 A T 307.77 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.776;DB;DP=20;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.491;QD=15.39;ReadPosRankSum=0.265;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL12RB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000262345 GT:AD:DP:GQ:PL 0/1:10,10:20:99:338,0,335
1 67795319 rs1495963 T C 1651.89 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;QD=35.15;SNPEFF_AMINO_ACID_CHANGE=S238;SNPEFF_CODON_CHANGE=tcT/tcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_67795270_67795412;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL12RB2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000262345 GT:AD:DP:GQ:PL 1/1:0,47:47:99:1685,129,0
1 67796258 rs11463498 G GT 492.99 PASS AC=2;AF=1.00;AN=2;DB;DP=22;FS=0.0;HRun=12;HaplotypeScore=71.593;IndelType=I;MQ=59.94;MQ0=0;QD=22.41;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL12RB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000262345 GT:AD:DP:GQ:PL 1/1:3,16:22:59.60:535,60,0
1 67796641 rs17129795 ATTAAC A 287.31 PASS AB=0.647;AC=1;AF=0.50;AN=2;BaseQRankSum=2.054;DB;DP=11;FS=0.0;HRun=0;HaplotypeScore=59.7433;IndelType=D;MQ=56.59;MQ0=0;MQRankSum=0.248;QD=26.12;ReadPosRankSum=-0.248;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL12RB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000262345 GT:AD:DP:GQ:PL 0/1:5,6:11:99:326,0,245
1 67852141 rs12138812 A G 68.26 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.988;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.04;MQ0=0;MQRankSum=-0.988;QD=11.38;ReadPosRankSum=1.537;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL12RB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000262345 GT:AD:DP:GQ:PL 0/1:3,3:6:98.25:98,0,103
1 67852188 . G A 165.83 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=3.665;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.933;MQ=58.84;MQ0=0;MQRankSum=1.042;QD=8.29;ReadPosRankSum=0.964;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL12RB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000262345 GT:AD:DP:GQ:PL 0/1:12,8:20:99:196,0,351
1 67852335 rs4297265 G A 737.52 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.009;DB;DP=54;Dels=0.0;FS=1.086;HRun=0;HaplotypeScore=0.9999;MQ=59.14;MQ0=0;MQRankSum=1.17;QD=13.66;ReadPosRankSum=-0.313;SNPEFF_AMINO_ACID_CHANGE=T557;SNPEFF_CODON_CHANGE=acG/acA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_67852262_67852352;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL12RB2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000544434 GT:AD:DP:GQ:PL 0/1:24,30:54:99:768,0,679
1 67861520 rs2229546 C A 971.42 PASS AB=0.602;AC=1;AF=0.50;AN=2;BaseQRankSum=0.542;DB;DP=93;Dels=0.0;FS=1.955;HRun=0;HaplotypeScore=2.1992;MQ=59.5;MQ0=0;MQRankSum=0.886;QD=10.45;ReadPosRankSum=-0.315;SNPEFF_AMINO_ACID_CHANGE=P693;SNPEFF_CODON_CHANGE=ccC/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_67861230_67861830;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL12RB2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000544434 GT:AD:DP:GQ:PL 0/1:56,37:93:99:1001,0,1792
1 67890526 rs6702742 A G 229.39 PASS AB=0.68;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.486;DB;DP=25;Dels=0.0;FS=2.623;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.194;QD=9.18;ReadPosRankSum=1.952;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SERBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361219 GT:AD:DP:GQ:PL 0/1:17,8:25:99:259,0,608
1 68151980 rs2759219 T G 157.31 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.467;DB;DP=12;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=13.11;ReadPosRankSum=1.718;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GADD45A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370985 GT:AD:DP:GQ:PL 0/1:6,6:12:99:187,0,196
1 68173264 rs2295942 C T 1180.69 PASS AB=0.459;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.058;DB;DP=74;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9159;MQ=60.0;MQ0=0;MQRankSum=0.732;QD=15.96;ReadPosRankSum=0.016;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GNG12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370982 GT:AD:DP:GQ:PL 0/1:34,40:74:99:1211,0,1049
1 68603586 rs983034 C T 340.55 PASS AB=0.628;AC=1;AF=0.50;AN=2;BaseQRankSum=2.016;DB;DP=43;Dels=0.0;FS=1.429;HRun=0;HaplotypeScore=0.0;MQ=59.46;MQ0=0;MQRankSum=1.069;QD=7.92;ReadPosRankSum=1.502;SNPEFF_AMINO_ACID_CHANGE=V374I;SNPEFF_CODON_CHANGE=Gtc/Atc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_68603463_68603616;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WLS;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000370976 GT:AD:DP:GQ:PL 0/1:27,16:43:99:371,0,776
1 68603731 rs1831297 A G 225.06 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9998;MQ=60.0;MQ0=0;MQRankSum=0.6;QD=18.76;ReadPosRankSum=-1.134;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WLS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491811 GT:AD:DP:GQ:PL 0/1:4,8:12:99:255,0,129
1 68610130 . G T 185.82 PASS AB=0.24;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.653;DP=25;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.399;MQ=42.83;MQ0=0;MQRankSum=-2.864;QD=7.43;ReadPosRankSum=2.965;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WLS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000497187 GT:AD:DP:GQ:PL 0/1:6,19:25:99:216,0,166
1 68614013 rs2566789 A G 139.89 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.45;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9578;MQ=60.0;MQ0=0;MQRankSum=1.268;QD=13.99;ReadPosRankSum=0.336;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WLS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000497187 GT:AD:DP:GQ:PL 0/1:5,5:10:99:170,0,176
1 68620762 rs3762371 G A 1279.86 PASS AB=0.418;AC=1;AF=0.50;AN=2;BaseQRankSum=1.992;DB;DP=79;Dels=0.0;FS=2.283;HRun=2;HaplotypeScore=1.6316;MQ=59.71;MQ0=0;MQRankSum=1.032;QD=16.2;ReadPosRankSum=-0.688;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WLS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471243 GT:AD:DP:GQ:PL 0/1:33,46:79:99:1310,0,956
1 68627943 rs1808596 C T 181.17 PASS AB=0.708;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.318;DB;DP=24;Dels=0.0;FS=1.81;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.334;QD=7.55;ReadPosRankSum=-0.953;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WLS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000262348 GT:AD:DP:GQ:PL 0/1:17,7:24:99:211,0,568
1 68627960 rs1808597 C T 134.55 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.138;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9789;MQ=60.0;MQ0=0;MQRankSum=-0.692;QD=4.81;ReadPosRankSum=0.802;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WLS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000262348 GT:AD:DP:GQ:PL 0/1:21,7:28:99:165,0,623
1 68628198 rs1808598 A G 607.08 PASS AB=0.452;AC=1;AF=0.50;AN=2;BaseQRankSum=4.372;DB;DP=42;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.13;MQ0=0;MQRankSum=-0.253;QD=14.45;ReadPosRankSum=-0.935;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WLS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000262348 GT:AD:DP:GQ:PL 0/1:19,23:42:99:637,0,538
1 68628201 rs1808599 C T 550.38 PASS AB=0.525;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.706;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.08;MQ0=0;MQRankSum=2.763;QD=13.76;ReadPosRankSum=0.298;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WLS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000262348 GT:AD:DP:GQ:PL 0/1:21,19:40:99:580,0,603
1 68628372 rs11803411 G A 96.84 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.368;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.421;QD=12.1;ReadPosRankSum=-0.421;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WLS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000262348 GT:AD:DP:GQ:PL 0/1:4,4:8:99:127,0,136
1 68897125 rs116540274 C T 1419.89 PASS AB=0.553;AC=1;AF=0.50;AN=2;BaseQRankSum=2.04;DB;DP=114;Dels=0.0;FS=16.498;HRun=0;HaplotypeScore=2.4691;MQ=59.8;MQ0=0;MQRankSum=0.558;QD=12.46;ReadPosRankSum=0.484;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RPE65;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000262340 GT:AD:DP:GQ:PL 0/1:63,51:114:99:1450,0,1965
1 68904418 rs3118421 A G 521.48 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;QD=27.45;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RPE65;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000262340 GT:AD:DP:GQ:PL 1/1:0,19:19:48.14:554,48,0
1 68943436 rs1924542 G A 920.56 PASS AB=0.516;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.331;DB;DP=62;Dels=0.0;FS=1.731;HRun=0;HaplotypeScore=0.8667;MQ=59.02;MQ0=0;MQRankSum=0.768;QD=14.85;ReadPosRankSum=0.909;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DEPDC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370964 GT:AD:DP:GQ:PL 0/1:32,30:62:99:951,0,1079
1 68943442 rs3790476 A G 829.33 PASS AB=0.493;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.011;DB;DP=69;Dels=0.0;FS=1.493;HRun=0;HaplotypeScore=0.8667;MQ=59.12;MQ0=0;MQRankSum=-0.09;QD=12.02;ReadPosRankSum=-0.414;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DEPDC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370964 GT:AD:DP:GQ:PL 0/1:34,35:69:99:859,0,1135
1 68943665 rs12119046 T G 2238.23 PASS AB=0.457;AC=1;AF=0.50;AN=2;BaseQRankSum=3.487;DB;DP=129;Dels=0.0;FS=0.837;HRun=0;HaplotypeScore=0.7887;MQ=59.64;MQ0=0;MQRankSum=-0.534;QD=17.35;ReadPosRankSum=-0.452;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DEPDC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370964 GT:AD:DP:GQ:PL 0/1:59,70:129:99:2268,0,1780
1 68947318 rs74368173 C CA 381.64 PASS AC=2;AF=1.00;AN=2;DB;DP=13;FS=0.0;HRun=5;HaplotypeScore=52.5234;IndelType=I;MQ=62.45;MQ0=0;QD=29.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DEPDC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370964 GT:AD:DP:GQ:PL 1/1:0,13:13:33.11:424,33,0
1 68952564 rs138180992 AAC A 297.68 PASS AB=0.733;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.985;DB;DP=43;FS=3.043;HRun=0;HaplotypeScore=226.6216;IndelType=D;MQ=57.14;MQ0=0;MQRankSum=1.293;QD=6.77;ReadPosRankSum=1.075;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DEPDC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000525124 GT:AD:DP:GQ:PL 0/1:18,15:43:99:337,0,501
1 68959867 rs3790482 C T 40.14 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DEPDC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370964 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:71,6,0
1 68960476 rs4926345 T G 84.85 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.26;MQ0=0;MQRankSum=0.727;QD=21.21;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DEPDC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370964 GT:AD:DP:GQ:PL 0/1:1,3:4:29.72:115,0,30
1 70225832 rs17397812 G A 210.33 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.386;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.102;QD=10.02;ReadPosRankSum=0.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRC7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310961 GT:AD:DP:GQ:PL 0/1:12,9:21:99:240,0,406
1 70304758 rs12735430 A G 693.76 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.033;DB;DP=65;Dels=0.0;FS=2.114;HRun=1;HaplotypeScore=2.3919;MQ=60.0;MQ0=0;MQRankSum=-0.559;QD=10.67;ReadPosRankSum=0.454;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRC7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000335298 GT:AD:DP:GQ:PL 0/1:35,30:65:99:724,0,1000
1 70397087 rs7530457 T C 217.99 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.33;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRC7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000035383 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:251,18,0
1 70587360 rs641909 C T 150.18 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=0.322;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.496;MQ=57.39;MQ0=0;MQRankSum=0.956;QD=16.69;ReadPosRankSum=1.221;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRC7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000035383 GT:AD:DP:GQ:PL 0/1:3,5:9:98.70:180,0,99
1 70611347 rs595662 A G 43.46 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.73;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRC40;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370952 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:75,6,0
1 70832053 rs6661178 G A 699.55 PASS AB=0.627;AC=1;AF=0.50;AN=2;BaseQRankSum=0.126;DB;DP=76;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=59.39;MQ0=0;MQRankSum=-0.882;QD=9.2;ReadPosRankSum=-0.761;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HHLA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000486110 GT:AD:DP:GQ:PL 0/1:47,28:76:99:730,0,1476
1 70904523 rs112004441 T TTGTGTG 482.70 PASS AB=0.805;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.22;DB;DP=33;FS=0.0;HRun=0;HaplotypeScore=239.3229;IndelType=I;MQ=52.57;MQ0=0;MQRankSum=-2.879;QD=14.63;ReadPosRankSum=-0.146;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CTH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000346806 GT:AD:DP:GQ:PL 0/1:23,6:33:99:522,0,491
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1 71418452 rs5699 C T 52.12 PASS AB=0.769;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.93;DB;DP=13;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.93;QD=4.01;ReadPosRankSum=0.93;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTGER3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000351052 GT:AD:DP:GQ:PL 0/1:10,3:13:82.11:82,0,373
1 71477841 rs5673 A T 266.46 PASS AB=0.706;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.644;DB;DP=34;Dels=0.0;FS=1.908;HRun=1;HaplotypeScore=0.9916;MQ=60.0;MQ0=0;MQRankSum=-1.228;QD=7.84;ReadPosRankSum=0.813;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTGER3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000306666 GT:AD:DP:GQ:PL 0/1:24,10:34:99:296,0,800
1 71512643 rs5671 C A 731.65 PASS AB=0.519;AC=1;AF=0.50;AN=2;BaseQRankSum=1.724;DB;DP=54;Dels=0.0;FS=2.434;HRun=1;HaplotypeScore=0.8941;MQ=59.57;MQ0=0;MQRankSum=-0.179;QD=13.55;ReadPosRankSum=-0.16;SNPEFF_AMINO_ACID_CHANGE=T206;SNPEFF_CODON_CHANGE=acG/acT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_71512364_71513471;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTGER3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000306666 GT:AD:DP:GQ:PL 0/1:28,26:54:99:762,0,646
1 71536574 rs11583800 G C 1310.80 PASS AB=0.44;AC=1;AF=0.50;AN=2;BaseQRankSum=0.224;DB;DP=84;Dels=0.0;FS=0.863;HRun=1;HaplotypeScore=0.0;MQ=59.45;MQ0=0;MQRankSum=0.976;QD=15.6;ReadPosRankSum=0.279;SNPEFF_AMINO_ACID_CHANGE=R207G;SNPEFF_CODON_CHANGE=Cga/Gga;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_71536510_71536679;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZRANB2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000254821 GT:AD:DP:GQ:PL 0/1:37,47:84:99:1341,0,1230
1 71537980 rs41287936 C T 298.28 PASS AB=0.607;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.223;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9914;MQ=60.0;MQ0=0;MQRankSum=0.188;QD=10.65;ReadPosRankSum=-0.564;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZRANB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000254821 GT:AD:DP:GQ:PL 0/1:17,11:28:99:328,0,538
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1 72058192 rs1611913 C T 44.87 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.44;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEGR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000306821 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:76,6,0
1 72058367 rs1334004 C T 429.09 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.76;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEGR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000306821 GT:AD:DP:GQ:PL 1/1:0,12:12:36.11:462,36,0
1 72058405 rs1334005 T C 666.27 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.06;MQ0=0;QD=33.31;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEGR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000306821 GT:AD:DP:GQ:PL 1/1:0,20:20:54.17:699,54,0
1 72058552 rs1413368 G A 1916.87 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.63;SNPEFF_AMINO_ACID_CHANGE=T168;SNPEFF_CODON_CHANGE=acC/acT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_72058500_72058651;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEGR1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000306821 GT:AD:DP:GQ:PL 1/1:0,57:57:99:1950,150,0
1 72058775 rs1413369 G A 145 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEGR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000306821 GT:AD:DP:GQ:PL 1/1:0,5:5:15.02:178,15,0
1 72242039 rs6424448 G A 406.04 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.33;MQ0=0;QD=29.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEGR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000306821 GT:AD:DP:GQ:PL 1/1:0,14:14:33.10:439,33,0
1 74492769 rs1384884 G T 216.65 PASS AB=0.222;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.666;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9933;MQ=60.0;MQ0=0;MQRankSum=-1.179;QD=24.07;ReadPosRankSum=0.067;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRIQ3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354431 GT:AD:DP:GQ:PL 0/1:2,7:9:57.80:247,0,58
1 74506753 rs6681458 T C 70.44 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=2.054;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.001;QD=7.83;ReadPosRankSum=1.001;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRIQ3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354431 GT:AD:DP:GQ:PL 0/1:6,3:9:99:100,0,217
1 74507711 rs7538410 T G 137.03 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.676;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=1.453;QD=13.7;ReadPosRankSum=0.851;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRIQ3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354431 GT:AD:DP:GQ:PL 0/1:5,5:10:99:167,0,178
1 74575182 rs1340472 C T 1633.82 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.499;DB;DP=124;Dels=0.0;FS=0.723;HRun=2;HaplotypeScore=1.6208;MQ=60.0;MQ0=0;MQRankSum=-0.143;QD=13.18;ReadPosRankSum=-0.328;SNPEFF_AMINO_ACID_CHANGE=A147T;SNPEFF_CODON_CHANGE=Gca/Aca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_74575078_74575237;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRIQ3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000370909 GT:AD:DP:GQ:PL 0/1:61,61:124:99:1664,0,1799
1 74646514 rs6701961 C T 1029.16 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9995;MQ=59.4;MQ0=0;QD=33.2;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRIQ3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354431 GT:AD:DP:GQ:PL 1/1:0,31:31:84.26:1062,84,0
1 74663814 rs1412825 C G 155.05 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=0.684;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9912;MQ=57.05;MQ0=0;MQRankSum=0.956;QD=19.38;ReadPosRankSum=0.956;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_1_74663680_74663871;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRIQ3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000354431 GT:AD:DP:GQ:PL 0/1:3,5:8:93.82:185,0,94
1 74664149 rs4422957 T C 42.37 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.21;MQ0=0;MQRankSum=-1.026;QD=8.47;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC093158.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370891 GT:AD:DP:GQ:PL 0/1:2,3:5:68.51:72,0,69
1 74665493 rs792310 G A 536.28 PASS AB=0.537;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.65;DB;DP=41;Dels=0.0;FS=3.035;HRun=0;HaplotypeScore=0.0;MQ=59.44;MQ0=0;MQRankSum=-1.165;QD=13.08;ReadPosRankSum=-1.11;SNPEFF_AMINO_ACID_CHANGE=V74;SNPEFF_CODON_CHANGE=gtG/gtA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_74665348_74665515;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNNI3K;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000472069 GT:AD:DP:GQ:PL 0/1:22,19:41:99:566,0,641
1 74669973 rs9425024 T G 546 PASS AB=0.452;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.64;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.536;QD=17.61;ReadPosRankSum=-2.084;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC093158.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370891 GT:AD:DP:GQ:PL 0/1:14,17:31:99:576,0,485
1 74671519 rs571848 A G 522.74 PASS AB=0.474;AC=1;AF=0.50;AN=2;BaseQRankSum=1.905;DB;DP=38;Dels=0.0;FS=1.363;HRun=1;HaplotypeScore=0.0;MQ=59.39;MQ0=0;MQRankSum=1.448;QD=13.76;ReadPosRankSum=-0.777;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNNI3K;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467578 GT:AD:DP:GQ:PL 0/1:18,20:38:99:553,0,555
1 74701295 rs505508 T A 761.74 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.62;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNNI3K;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000524915 GT:AD:DP:GQ:PL 1/1:0,22:22:60.20:795,60,0
1 74701651 rs500203 A T 78.68 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=13.11;ReadPosRankSum=-1.38;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNNI3K;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000524915 GT:AD:DP:GQ:PL 0/1:2,4:6:69.41:109,0,69
1 74701950 rs532221 T A 386.48 PASS AB=0.464;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.981;DB;DP=28;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.33;MQ0=0;MQRankSum=0.138;QD=13.8;ReadPosRankSum=0.276;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNNI3K;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000524915 GT:AD:DP:GQ:PL 0/1:13,15:28:99:416,0,456
1 74737081 rs514012 A G 162.32 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.21;MQ0=0;QD=32.46;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC093158.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326637 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:195,15,0
1 74819077 rs6424586 T G 739.62 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.84;MQ0=0;QD=36.98;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC093158.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326637 GT:AD:DP:GQ:PL 1/1:0,20:20:57.17:773,57,0
1 74835788 rs12034234 T C 45.24 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.62;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC093158.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000497284 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:76,6,0
1 74937856 . ATCT A 1877.90 PASS AB=0.72;AC=1;AF=0.50;AN=2;BaseQRankSum=8.026;DP=126;FS=1.48;HRun=0;HaplotypeScore=500.3929;IndelType=D;MQ=58.68;MQ0=0;MQRankSum=-0.396;QD=14.9;ReadPosRankSum=-0.23;SNPEFF_AMINO_ACID_CHANGE=R483-;SNPEFF_CODON_CHANGE=aga/-;SNPEFF_EFFECT=CODON_DELETION;SNPEFF_EXON_ID=exon_1_74937794_74937885;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRC53;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000294635 GT:AD:DP:GQ:PL 0/1:77,49:126:99:1917,0,4141
1 75006027 rs3895907 A G 978.51 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.74;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC093158.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326637 GT:AD:DP:GQ:PL 1/1:0,29:29:78.24:1012,78,0
1 75006076 rs3845348 G A 486.82 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.45;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC093158.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326637 GT:AD:DP:GQ:PL 1/1:0,13:13:39.13:520,39,0
1 75036783 rs9326115 T C 2131.92 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.63;MQ0=0;QD=33.84;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf173;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000433746 GT:AD:DP:GQ:PL 1/1:0,63:63:99:2165,163,0
1 75036812 rs9326116 C T 2727.84 PASS AC=2;AF=1.00;AN=2;DB;DP=82;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.72;MQ0=0;QD=33.27;SNPEFF_AMINO_ACID_CHANGE=V1528M;SNPEFF_CODON_CHANGE=Gtg/Atg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_75036783_75039175;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf173;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000326665 GT:AD:DP:GQ:PL 1/1:0,82:82:99:2761,208,0
1 75037845 rs12723334 A G 1186.89 PASS AB=0.586;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.357;DB;DP=112;Dels=0.0;FS=1.591;HRun=0;HaplotypeScore=0.6651;MQ=59.83;MQ0=0;MQRankSum=0.431;QD=10.6;ReadPosRankSum=-1.287;SNPEFF_AMINO_ACID_CHANGE=S1183;SNPEFF_CODON_CHANGE=agT/agC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_75036783_75039175;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf173;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000326665 GT:AD:DP:GQ:PL 0/1:65,46:112:99:1217,0,1898
1 75038228 rs11580409 A C 2371.22 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.375;DB;DP=145;Dels=0.0;FS=3.04;HRun=0;HaplotypeScore=0.9665;MQ=59.36;MQ0=0;MQRankSum=-0.369;QD=16.35;ReadPosRankSum=0.925;SNPEFF_AMINO_ACID_CHANGE=L1056V;SNPEFF_CODON_CHANGE=Tta/Gta;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_75036783_75039175;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf173;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000326665 GT:AD:DP:GQ:PL 0/1:66,79:145:99:2401,0,1915
1 75039219 rs77910454 G A 391.48 PASS AB=0.368;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.324;DB;DP=19;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.634;QD=20.6;ReadPosRankSum=-1.31;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf173;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326665 GT:AD:DP:GQ:PL 0/1:7,12:19:99:421,0,241
1 75072264 rs41289216 G T 619.93 PASS AB=0.656;AC=1;AF=0.50;AN=2;BaseQRankSum=0.083;DB;DP=61;Dels=0.0;FS=5.398;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.448;QD=10.16;ReadPosRankSum=0.357;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf173;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326665 GT:AD:DP:GQ:PL 0/1:40,21:61:99:650,0,1372
1 75097426 rs11210490 G C 848.10 PASS AB=0.46;AC=1;AF=0.50;AN=2;BaseQRankSum=0.669;DB;DP=63;Dels=0.0;FS=1.0;HRun=0;HaplotypeScore=0.0;MQ=59.7;MQ0=0;MQRankSum=1.014;QD=13.46;ReadPosRankSum=-2.117;SNPEFF_AMINO_ACID_CHANGE=P264A;SNPEFF_CODON_CHANGE=Cca/Gca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_75097397_75097612;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf173;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000326665 GT:AD:DP:GQ:PL 0/1:29,34:63:99:878,0,974
1 75108863 rs623171 A C 145.76 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.268;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.668;QD=14.58;ReadPosRankSum=0.336;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf173;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326665 GT:AD:DP:GQ:PL 0/1:5,5:10:99:176,0,177
1 75132462 rs76649713 T TA 928.63 PASS AB=0.695;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.027;DB;DP=82;FS=1.843;HRun=9;HaplotypeScore=192.4425;IndelType=I;MQ=60.4;MQ0=0;MQRankSum=0.154;QD=11.32;ReadPosRankSum=-0.492;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf173;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326665 GT:AD:DP:GQ:PL 0/1:46,35:82:99:968,0,880
1 75172001 rs7527057 T A 2377.60 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.537;DB;DP=72;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.805;QD=33.02;ReadPosRankSum=-0.024;SNPEFF_AMINO_ACID_CHANGE=G186;SNPEFF_CODON_CHANGE=ggA/ggT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_75171170_75172141;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRYZ;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000370872 GT:AD:DP:GQ:PL 1/1:1,71:72:99:2411,145,0
1 75172756 rs10718328 TAA T 1933.02 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.713;DB;DP=102;FS=4.262;HRun=14;HaplotypeScore=434.5765;IndelType=D;MQ=60.37;MQ0=0;MQRankSum=-0.086;QD=18.95;ReadPosRankSum=1.12;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRYZ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370870 GT:AD:DP:GQ:PL 1/1:19,78:102:99:1975,138,0
1 75173051 rs4650281 C T 50.63 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.32;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRYZ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000441120 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
1 75190452 rs1051122 C T 2260.86 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.636;DB;DP=73;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.84;MQ=59.17;MQ0=0;MQRankSum=1.107;QD=30.97;ReadPosRankSum=0.289;SNPEFF_AMINO_ACID_CHANGE=G18;SNPEFF_CODON_CHANGE=ggG/ggA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_75190395_75190518;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRYZ;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000340866 GT:AD:DP:GQ:PL 1/1:1,72:73:99:2294,132,0
1 75199152 rs277373 C T 411.40 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.4;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TYW3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370867 GT:AD:DP:GQ:PL 1/1:0,11:11:33.11:444,33,0
1 75214390 rs749690 G C 671.53 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.34;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TYW3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370867 GT:AD:DP:GQ:PL 1/1:0,19:19:51.17:705,51,0
1 75603055 rs1526503 A G 45.13 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.57;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LHX8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294638 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:76,6,0
1 75609049 rs12041465 A C 87.02 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.133;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.067;QD=6.22;ReadPosRankSum=0.667;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LHX8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294638 GT:AD:DP:GQ:PL 0/1:9,5:14:99:117,0,297
1 75614380 rs112814416 CT C 63.73 PASS AB=0.786;AC=1;AF=0.50;AN=2;BaseQRankSum=0.067;DB;DP=22;FS=0.0;HRun=14;HaplotypeScore=113.7465;IndelType=D;MQ=56.78;MQ0=0;MQRankSum=0.067;QD=2.9;ReadPosRankSum=0.067;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LHX8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294638 GT:AD:DP:GQ:PL 0/1:16,6:22:30.28:103,0,30
1 75622616 rs941032 C T 1451.79 PASS AB=0.532;AC=1;AF=0.50;AN=2;BaseQRankSum=3.442;DB;DP=111;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.8907;MQ=59.58;MQ0=0;MQRankSum=0.363;QD=13.08;ReadPosRankSum=-0.558;SNPEFF_AMINO_ACID_CHANGE=H273;SNPEFF_CODON_CHANGE=caC/caT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_75622578_75622761;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LHX8;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000356261 GT:AD:DP:GQ:PL 0/1:59,52:111:99:1482,0,1824
1 75626420 rs2462955 A T 512.67 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.62;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LHX8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294638 GT:AD:DP:GQ:PL 1/1:0,14:14:42.13:546,42,0
1 75669619 . T TTTG 1162.96 PASS AC=2;AF=1.00;AN=2;DP=31;FS=0.0;HRun=0;HaplotypeScore=120.1888;IndelType=I;MQ=57.34;MQ0=0;QD=37.51;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC44A5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370855 GT:AD:DP:GQ:PL 1/1:9,22:31:66.21:1205,66,0
1 75672376 rs1948874 A G 871.32 PASS AB=0.527;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.697;DB;DP=74;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8941;MQ=59.69;MQ0=0;MQRankSum=-0.225;QD=11.77;ReadPosRankSum=1.747;SNPEFF_AMINO_ACID_CHANGE=S562;SNPEFF_CODON_CHANGE=tcT/tcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_75671953_75672404;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC44A5;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000535611 GT:AD:DP:GQ:PL 0/1:39,35:74:99:901,0,1109
1 75679569 rs71697809 C CT 723.09 PASS AB=0.699;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.225;DB;DP=72;FS=0.967;HRun=10;HaplotypeScore=211.6126;IndelType=I;MQ=59.23;MQ0=0;MQRankSum=0.321;QD=10.04;ReadPosRankSum=-1.264;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC44A5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370855 GT:AD:DP:GQ:PL 0/1:41,30:72:99:762,0,658
1 75680433 rs687715 G A 292.57 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.002;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.412;QD=19.5;ReadPosRankSum=-0.766;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC44A5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370855 GT:AD:DP:GQ:PL 0/1:6,9:15:99:323,0,201
1 75680545 rs688513 T G 129.40 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.35;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC44A5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370855 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:162,12,0
1 75680565 rs688539 G A 83.90 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.97;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC44A5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370855 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:116,9,0
1 75681351 rs594470 A T 211.44 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.24;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC44A5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370855 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:244,18,0
1 75681511 rs595009 T C 1454.16 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.53;MQ0=0;QD=36.35;SNPEFF_AMINO_ACID_CHANGE=Q422;SNPEFF_CODON_CHANGE=caA/caG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_75681439_75681542;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC44A5;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000535611 GT:AD:DP:GQ:PL 1/1:0,40:40:99:1487,108,0
1 75684529 rs610159 A G 405.33 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.78;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC44A5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370855 GT:AD:DP:GQ:PL 1/1:0,12:12:33.11:438,33,0
1 75685403 rs600734 T C 222.86 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=0.678;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.398;QD=20.26;ReadPosRankSum=0.678;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC44A5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370855 GT:AD:DP:GQ:PL 0/1:4,7:11:99:253,0,132
1 75685643 rs12042874 T C 171.24 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.377;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.2;MQ0=0;MQRankSum=0.312;QD=13.17;ReadPosRankSum=0.66;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC44A5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370855 GT:AD:DP:GQ:PL 0/1:6,7:13:99:201,0,216
1 75699646 rs10493564 T C 1518.41 PASS AB=0.449;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.415;DB;DP=89;Dels=0.0;FS=3.87;HRun=0;HaplotypeScore=0.9159;MQ=60.0;MQ0=0;MQRankSum=-0.323;QD=17.06;ReadPosRankSum=-0.549;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC44A5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370855 GT:AD:DP:GQ:PL 0/1:40,49:89:99:1548,0,1221
1 75699771 rs10493565 A G 1299.79 PASS AB=0.419;AC=1;AF=0.50;AN=2;BaseQRankSum=0.351;DB;DP=74;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9958;MQ=60.0;MQ0=0;MQRankSum=-1.38;QD=17.56;ReadPosRankSum=-0.745;SNPEFF_AMINO_ACID_CHANGE=I121;SNPEFF_CODON_CHANGE=atT/atC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_75699671_75699783;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC44A5;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000535611 GT:AD:DP:GQ:PL 0/1:31,43:74:99:1330,0,949
1 75699831 rs10493566 G A 653.86 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.653;DB;DP=28;Dels=0.0;FS=7.258;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.551;QD=23.35;ReadPosRankSum=0.585;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC44A5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370855 GT:AD:DP:GQ:PL 0/1:8,20:28:99:684,0,248
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1 75716925 rs588098 C T 540.71 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.9;DB;DP=52;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.531;QD=10.4;ReadPosRankSum=-0.299;SNPEFF_AMINO_ACID_CHANGE=V105;SNPEFF_CODON_CHANGE=gtG/gtA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_75716895_75716979;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC44A5;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000370855 GT:AD:DP:GQ:PL 0/1:32,20:52:99:571,0,891
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1 76194229 rs11316888 GT G 1110.59 PASS AC=2;AF=1.00;AN=2;DB;DP=34;FS=0.0;HRun=4;HaplotypeScore=93.1893;IndelType=D;MQ=60.32;MQ0=0;QD=32.66;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACADM;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370834 GT:AD:DP:GQ:PL 1/1:2,32:34:96.29:1153,96,0
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1 76198785 rs3818855 G A 1806.92 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=4.056;DB;DP=154;Dels=0.0;FS=2.083;HRun=0;HaplotypeScore=1.5774;MQ=59.7;MQ0=0;MQRankSum=0.109;QD=11.73;ReadPosRankSum=-0.958;SNPEFF_AMINO_ACID_CHANGE=A112;SNPEFF_CODON_CHANGE=gcG/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_76198736_76198834;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACADM;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000370834 GT:AD:DP:GQ:PL 0/1:85,68:154:99:1837,0,2500
1 76199345 rs2153126 C G 673.96 PASS AB=0.52;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.913;DB;DP=50;Dels=0.0;FS=1.53;HRun=0;HaplotypeScore=2.6837;MQ=60.0;MQ0=0;MQRankSum=-0.391;QD=13.48;ReadPosRankSum=-0.03;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACADM;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473018 GT:AD:DP:GQ:PL 0/1:26,24:50:99:704,0,783
1 76205643 rs12127402 C A 305.65 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.803;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=-1.414;QD=12.23;ReadPosRankSum=-0.028;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACADM;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370834 GT:AD:DP:GQ:PL 0/1:15,10:25:99:336,0,519
1 76216330 rs11161521 T C 141.72 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=0.322;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.322;QD=17.71;ReadPosRankSum=-1.517;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACADM;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000526930 GT:AD:DP:GQ:PL 0/1:3,5:8:94.27:172,0,94
1 76227022 rs1061337 A G 784.04 PASS AB=0.528;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.165;DB;DP=53;Dels=0.0;FS=1.166;HRun=1;HaplotypeScore=1.3123;MQ=60.0;MQ0=0;MQRankSum=0.33;QD=14.79;ReadPosRankSum=1.099;SNPEFF_AMINO_ACID_CHANGE=V198;SNPEFF_CODON_CHANGE=gtA/gtG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_76226807_76227055;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACADM;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000543667 GT:AD:DP:GQ:PL 0/1:28,25:53:99:814,0,860
1 76251746 rs1146632 T C 134.38 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.731;QD=26.88;ReadPosRankSum=-0.731;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RABGGTB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000319942 GT:AD:DP:GQ:PL 1/1:1,4:5:12.04:167,12,0
1 76252011 rs1146634 G A 342.88 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.799;DB;DP=30;Dels=0.0;FS=2.062;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.699;QD=11.43;ReadPosRankSum=-1.461;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RABGGTB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000319942 GT:AD:DP:GQ:PL 0/1:18,12:30:99:373,0,596
1 76252687 rs1146636 T C 220.42 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=0.935;DB;DP=13;Dels=0.0;FS=3.358;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=1.093;QD=16.96;ReadPosRankSum=1.954;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RABGGTB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000319942 GT:AD:DP:GQ:PL 0/1:6,7:13:99:250,0,197
1 76255228 rs11161620 G A 216.35 PASS AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.088;DB;DP=19;Dels=0.0;FS=2.392;HRun=1;HaplotypeScore=0.0;MQ=58.78;MQ0=0;MQRankSum=1.766;QD=11.39;ReadPosRankSum=-1.06;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACADM;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000528016 GT:AD:DP:GQ:PL 0/1:10,9:19:99:246,0,290
1 76257892 rs12703 A T 774.61 PASS AB=0.536;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.83;DB;DP=56;Dels=0.0;FS=4.107;HRun=0;HaplotypeScore=1.7834;MQ=59.59;MQ0=0;MQRankSum=0.288;QD=13.83;ReadPosRankSum=1.142;SNPEFF_AMINO_ACID_CHANGE=A202;SNPEFF_CODON_CHANGE=gcA/gcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_76257866_76257991;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RABGGTB;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000319942 GT:AD:DP:GQ:PL 0/1:30,26:56:99:805,0,1002
1 76260837 rs11161626 C T 158.67 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.422;DB;DP=9;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=51.77;MQ0=0;MQRankSum=-1.422;QD=17.63;ReadPosRankSum=-2.054;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RABGGTB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000319942 GT:AD:DP:GQ:PL 0/1:3,6:9:99:189,0,102
1 76269372 rs5745323 T C 324.44 PASS AB=0.412;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.708;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.025;QD=19.08;ReadPosRankSum=0.342;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MSH4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263187 GT:AD:DP:GQ:PL 0/1:7,10:17:99:354,0,239
1 76276353 rs12122939 T C 379.56 PASS AB=0.581;AC=1;AF=0.50;AN=2;BaseQRankSum=0.58;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.901;QD=12.24;ReadPosRankSum=-0.781;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MSH4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263187 GT:AD:DP:GQ:PL 0/1:18,13:31:99:410,0,617
1 76280543 rs1144339 A G 215.20 PASS AB=0.3;AC=1;AF=0.50;AN=2;BaseQRankSum=0.296;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.296;QD=21.52;ReadPosRankSum=-1.214;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MSH4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263187 GT:AD:DP:GQ:PL 0/1:3,7:10:93.54:245,0,94
1 76313874 rs2047435 C T 512.05 PASS AB=0.558;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.673;DB;DP=43;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.46;MQ0=0;MQRankSum=-0.086;QD=11.91;ReadPosRankSum=0.77;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MSH4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263187 GT:AD:DP:GQ:PL 0/1:24,19:43:99:542,0,738
1 76333163 rs5745433 T G 347.92 PASS AB=0.548;AC=1;AF=0.50;AN=2;BaseQRankSum=1.33;DB;DP=31;Dels=0.0;FS=10.126;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.853;QD=11.22;ReadPosRankSum=1.687;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MSH4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263187 GT:AD:DP:GQ:PL 0/1:17,14:31:99:378,0,552
1 76333172 rs3765682 T C 590.89 PASS AB=0.439;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.512;DB;DP=41;Dels=0.0;FS=5.224;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.486;QD=14.41;ReadPosRankSum=-1.327;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MSH4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263187 GT:AD:DP:GQ:PL 0/1:18,23:41:99:621,0,531
1 76344011 rs1493367 C A 326.23 PASS AB=0.474;AC=1;AF=0.50;AN=2;BaseQRankSum=0.204;DB;DP=19;Dels=0.0;FS=4.561;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.204;QD=17.17;ReadPosRankSum=1.674;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MSH4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263187 GT:AD:DP:GQ:PL 0/1:9,10:19:99:356,0,297
1 76344711 rs5745449 A T 570.94 PASS AB=0.596;AC=1;AF=0.50;AN=2;BaseQRankSum=3.046;DB;DP=47;Dels=0.0;FS=2.505;HRun=1;HaplotypeScore=1.8938;MQ=59.01;MQ0=0;MQRankSum=0.249;QD=12.15;ReadPosRankSum=1.225;SNPEFF_AMINO_ACID_CHANGE=L525;SNPEFF_CODON_CHANGE=ctA/ctT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_76344677_76344813;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MSH4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000263187 GT:AD:DP:GQ:PL 0/1:28,19:47:99:601,0,850
1 76344856 rs5745451 T C 316.61 PASS AB=0.522;AC=1;AF=0.50;AN=2;BaseQRankSum=1.2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.367;MQ=58.99;MQ0=0;MQRankSum=-0.769;QD=13.77;ReadPosRankSum=-1.2;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MSH4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263187 GT:AD:DP:GQ:PL 0/1:12,11:23:99:347,0,398
1 76344920 rs5745453 G A 204.60 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.04;MQ0=0;QD=34.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MSH4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263187 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:237,18,0
1 76346832 rs5745465 T C 399.32 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=2.861;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9973;MQ=62.41;MQ0=0;MQRankSum=0.326;QD=18.15;ReadPosRankSum=-0.326;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MSH4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263187 GT:AD:DP:GQ:PL 0/1:8,14:22:99:429,0,269
1 76346920 rs5745466 C CAT 3810.95 PASS AC=2;AF=1.00;AN=2;DB;DP=65;FS=0.0;HRun=0;HaplotypeScore=165.6526;IndelType=I;MQ=61.85;MQ0=0;QD=58.63;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MSH4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263187 GT:AD:DP:GQ:PL 1/1:0,64:65:99:3811,193,0
1 76354711 rs5745499 T C 44.50 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=14.83;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MSH4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263187 GT:AD:DP:GQ:PL 0/1:1,2:3:32.20:74,0,32
1 76356648 rs5745507 G A 149.45 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.361;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=16.61;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MSH4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263187 GT:AD:DP:GQ:PL 0/1:4,5:9:99:179,0,123
1 76378359 rs71718953 ATT A 324.66 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.123;DB;DP=18;FS=0.0;HRun=12;HaplotypeScore=100.063;IndelType=D;MQ=56.51;MQ0=0;MQRankSum=1.531;QD=16.23;ReadPosRankSum=0.714;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MSH4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263187 GT:AD:DP:GQ:PL 1/1:10,8:18:43.30:367,43,0
1 76378360 . T TA 163.01 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.264;DP=18;FS=7.57;HRun=1;HaplotypeScore=100.7358;IndelType=I;MQ=56.51;MQ0=0;MQRankSum=-0.634;QD=8.15;ReadPosRankSum=-1.087;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MSH4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263187 GT:AD:DP:GQ:PL 0/1:12,8:18:99:202,0,105
1 76771475 rs10782610 G T 578.73 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.17;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ST6GALNAC3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328299 GT:AD:DP:GQ:PL 1/1:0,16:16:48.11:612,48,0
1 77093011 rs587021 T G 178.61 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.52;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.278;QD=16.24;ReadPosRankSum=-0.597;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ST6GALNAC3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328299 GT:AD:DP:GQ:PL 0/1:4,7:11:99:209,0,136
1 77558057 rs1048575 G C 982.95 PASS AB=0.61;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.356;DB;DP=82;Dels=0.0;FS=11.273;HRun=0;HaplotypeScore=0.9983;MQ=59.72;MQ0=0;MQRankSum=0.404;QD=11.99;ReadPosRankSum=1.697;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIGK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000487906 GT:AD:DP:GQ:PL 0/1:50,32:82:99:1013,0,1398
1 77595399 rs144134062 AAAAT A 732.78 PASS AC=2;AF=1.00;AN=2;DB;DP=31;FS=0.0;HRun=0;HaplotypeScore=148.8053;IndelType=D;MQ=43.24;MQ0=0;QD=23.64;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIGK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370812 GT:AD:DP:GQ:PL 1/1:16,15:31:48.16:775,48,0
1 77620035 rs839832 T C 287.66 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.96;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIGK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478391 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:321,24,0
1 77627096 rs839825 G A 1486.90 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=59.57;MQ0=0;QD=34.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIGK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359130 GT:AD:DP:GQ:PL 1/1:0,43:43:99:1520,117,0
1 77632270 rs1721144 T C 172.35 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.47;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIGK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359130 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:205,15,0
1 77634948 rs1779199 G A 1629.19 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.94;SNPEFF_AMINO_ACID_CHANGE=Y124;SNPEFF_CODON_CHANGE=taC/taT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_77634945_77635080;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIGK;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000359130 GT:AD:DP:GQ:PL 1/1:0,48:48:99:1662,120,0
1 77752996 rs1167204 T C 86.50 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.83;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AK5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344720 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:119,9,0
1 77759380 rs2815310 C G 96.53 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.927;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9578;MQ=58.33;MQ0=0;MQRankSum=0.978;QD=6.89;ReadPosRankSum=-0.437;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AK5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344720 GT:AD:DP:GQ:PL 0/1:8,6:14:99:127,0,286
1 77759578 rs2815311 A G 424.81 PASS AB=0.568;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.284;DB;DP=37;Dels=0.0;FS=11.146;HRun=1;HaplotypeScore=0.9998;MQ=59.38;MQ0=0;MQRankSum=0.69;QD=11.48;ReadPosRankSum=-1.916;SNPEFF_AMINO_ACID_CHANGE=A116;SNPEFF_CODON_CHANGE=gcA/gcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_77759478_77759645;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AK5;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000354567 GT:AD:DP:GQ:PL 0/1:21,16:37:99:455,0,703
1 77763071 rs1167207 A G 53.58 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.231;QD=10.72;ReadPosRankSum=-1.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AK5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344720 GT:AD:DP:GQ:PL 0/1:2,3:5:66.73:84,0,67
1 77763542 rs1167206 G A 1524.30 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.87;SNPEFF_AMINO_ACID_CHANGE=K177;SNPEFF_CODON_CHANGE=aaG/aaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_77763519_77763632;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AK5;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000344720 GT:AD:DP:GQ:PL 1/1:0,45:45:99:1557,117,0
1 77857132 rs6670567 G A 58.28 MQFilter40 AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=37.32;MQ0=0;MQRankSum=-0.731;QD=11.66;ReadPosRankSum=-0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AK5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344720 GT:AD:DP:GQ:PL 0/1:1,4:5:30.20:88,0,30
1 77857210 rs6685119 A C 104.18 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.354;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=42.74;MQ0=0;MQRankSum=0.212;QD=7.44;ReadPosRankSum=-2.899;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AK5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344720 GT:AD:DP:GQ:PL 1/1:4,10:14:17.92:137,18,0
1 77949123 rs7515509 G A 157.26 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.464;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.356;QD=9.83;ReadPosRankSum=1.139;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AK5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344720 GT:AD:DP:GQ:PL 0/1:10,6:16:99:187,0,367
1 77949129 rs7528932 A T 131.11 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.0;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.309;QD=10.93;ReadPosRankSum=0.689;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AK5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344720 GT:AD:DP:GQ:PL 0/1:7,5:12:99:161,0,252
1 78001881 rs10873948 T C 212.17 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.36;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AK5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000530826 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:245,18,0
1 78024162 rs10700476 T TGG 369.86 PASS AC=2;AF=1.00;AN=2;DB;DP=10;FS=0.0;HRun=8;HaplotypeScore=42.0754;IndelType=I;MQ=56.28;MQ0=0;QD=36.99;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ZZZ3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481346 GT:AD:DP:GQ:PL 1/1:0,9:10:27.09:412,27,0
1 78024284 rs6675743 T C 1578.75 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9332;MQ=57.57;MQ0=0;QD=35.08;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ZZZ3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481346 GT:AD:DP:GQ:PL 1/1:0,45:45:99:1612,120,0
1 78024345 rs79671213 C CTAT 3453.52 PASS AC=2;AF=1.00;AN=2;DB;DP=56;FS=0.0;HRun=0;HaplotypeScore=245.6962;IndelType=I;MQ=57.83;MQ0=0;QD=61.67;SNPEFF_AMINO_ACID_CHANGE=S534SI;SNPEFF_CODON_CHANGE=tct/tcTATt;SNPEFF_EFFECT=CODON_INSERTION;SNPEFF_EXON_ID=exon_1_78024287_78025647;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AK5;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000344720 GT:AD:DP:GQ:PL 1/1:4,52:56:99:3454,160,0
1 78033981 rs10568325 AAAATG A 3344.87 PASS AC=2;AF=1.00;AN=2;DB;DP=60;FS=0.0;HRun=0;HaplotypeScore=372.8332;IndelType=D;MQ=56.55;MQ0=0;QD=55.75;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ZZZ3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370798 GT:AD:DP:GQ:PL 1/1:4,56:60:99:3345,172,0
1 78045369 rs1565852 G A 803.38 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.95;MQ0=0;QD=36.52;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ZZZ3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474746 GT:AD:DP:GQ:PL 1/1:0,22:22:63.21:836,63,0
1 78047503 rs36003200 C T 1688.88 PASS AB=0.483;AC=1;AF=0.50;AN=2;BaseQRankSum=-6.514;DB;DP=116;Dels=0.0;FS=0.728;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.02;QD=14.56;ReadPosRankSum=1.285;SNPEFF_AMINO_ACID_CHANGE=L128;SNPEFF_CODON_CHANGE=ttG/ttA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_78047461_78047576;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ZZZ3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000370798 GT:AD:DP:GQ:PL 0/1:56,60:116:99:1719,0,1673
1 78179032 rs143300869 AT A 164.42 PASS AB=0.706;AC=1;AF=0.50;AN=2;BaseQRankSum=3.062;DB;DP=24;FS=0.0;HRun=10;HaplotypeScore=57.9332;IndelType=D;MQ=60.0;MQ0=0;MQRankSum=-0.367;QD=6.85;ReadPosRankSum=1.021;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP33;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461986 GT:AD:DP:GQ:PL 0/1:14,10:24:99:203,0,239
1 78181750 . T C 48.08 PASS AC=2;AF=1.00;AN=2;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.04;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP33;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461986 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
1 78195366 rs72683688 T G 106.55 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.922;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=-0.922;QD=13.32;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP33;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000524536 GT:AD:DP:GQ:PL 0/1:4,4:8:99:137,0,125
1 78272902 rs4949822 G A 216.13 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.02;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM73A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370791 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:249,18,0
1 78281002 rs11162386 T C 431.65 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.34;MQ0=0;QD=26.98;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM73A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370791 GT:AD:DP:GQ:PL 1/1:0,15:16:42.09:465,42,0
1 78383467 rs1749913 G A 1234.83 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.28;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEXN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294624 GT:AD:DP:GQ:PL 1/1:0,35:35:96.28:1268,96,0
1 78392446 rs1166698 G A 1664.40 PASS AB=0.505;AC=1;AF=0.50;AN=2;BaseQRankSum=4.565;DB;DP=107;Dels=0.0;FS=0.749;HRun=0;HaplotypeScore=1.5362;MQ=60.0;MQ0=0;MQRankSum=-1.196;QD=15.56;ReadPosRankSum=0.345;SNPEFF_AMINO_ACID_CHANGE=G181R;SNPEFF_CODON_CHANGE=Gga/Aga;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_78392401_78392577;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEXN;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000330010 GT:AD:DP:GQ:PL 0/1:54,53:107:99:1694,0,1644
1 78396626 rs9659938 T C 683.12 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.2;MQ0=0;QD=34.16;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEXN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000330010 GT:AD:DP:GQ:PL 1/1:0,20:20:57.17:716,57,0
1 78399207 rs4483454 C G 1002.85 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=3.7078;MQ=59.2;MQ0=0;QD=34.58;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEXN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401035 GT:AD:DP:GQ:PL 1/1:0,29:29:75.25:1036,75,0
1 78400498 rs1780051 T C 602.19 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.45;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEXN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401035 GT:AD:DP:GQ:PL 1/1:0,18:18:48.15:635,48,0
1 78400540 rs1780050 A C 325.59 PASS AB=0.469;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.415;DB;DP=32;Dels=0.0;FS=3.568;HRun=2;HaplotypeScore=0.8941;MQ=58.4;MQ0=0;MQRankSum=-1.048;QD=10.17;ReadPosRankSum=-0.652;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEXN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401035 GT:AD:DP:GQ:PL 0/1:15,17:32:99:356,0,437
1 78430689 rs77529143 A AG 3920.03 PASS AC=2;AF=1.00;AN=2;DB;DP=91;FS=0.0;HRun=1;HaplotypeScore=205.3862;IndelType=I;MQ=61.3;MQ0=0;QD=43.08;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FUBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421641 GT:AD:DP:GQ:PL 1/1:2,89:91:99:3920,268,0
1 78471060 rs11384806 T TC 181.16 PASS AC=2;AF=1.00;AN=2;DB;DP=7;FS=0.0;HRun=0;HaplotypeScore=23.0769;IndelType=I;MQ=58.24;MQ0=0;QD=25.88;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=DNAJB4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370763 GT:AD:DP:GQ:PL 1/1:1,6:7:18.04:223,18,0
1 78478675 rs3790586 G A 405.60 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=DNAJB4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370763 GT:AD:DP:GQ:PL 1/1:0,11:11:33.11:439,33,0
1 78481640 rs1039863 G A 170.38 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.08;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=DNAJB4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426517 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:203,15,0
1 78560583 rs565164 G A 439.77 PASS AB=0.423;AC=1;AF=0.50;AN=2;BaseQRankSum=0.675;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.83;QD=16.91;ReadPosRankSum=-0.052;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GIPC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000476882 GT:AD:DP:GQ:PL 0/1:11,15:26:99:470,0,355
1 79093818 rs273259 A G 672.81 PASS AB=0.49;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.836;DB;DP=51;Dels=0.0;FS=1.101;HRun=0;HaplotypeScore=0.7887;MQ=59.46;MQ0=0;MQRankSum=0.725;QD=13.19;ReadPosRankSum=1.102;SNPEFF_AMINO_ACID_CHANGE=H50R;SNPEFF_CODON_CHANGE=cAt/cGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_79093670_79094078;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IFI44L;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000450498 GT:AD:DP:GQ:PL 0/1:25,26:51:99:703,0,789
1 79094081 rs1333973 T A 319.32 PASS AB=0.717;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.502;DB;DP=46;Dels=0.0;FS=4.825;HRun=0;HaplotypeScore=0.9159;MQ=60.0;MQ0=0;MQRankSum=0.526;QD=6.94;ReadPosRankSum=-0.962;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IFI44L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000452835 GT:AD:DP:GQ:PL 0/1:33,13:46:99:349,0,1085
1 79094593 rs273257 A G 802.36 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.43;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IFI44L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000452835 GT:AD:DP:GQ:PL 1/1:0,24:24:63.20:835,63,0
1 79095339 rs273256 A C 209.99 PASS AB=0.579;AC=1;AF=0.50;AN=2;BaseQRankSum=0.537;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.115;QD=11.05;ReadPosRankSum=-2.271;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IFI44L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000452835 GT:AD:DP:GQ:PL 0/1:11,8:19:99:240,0,398
1 79095581 rs987495 T C 581.75 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.409;DB;DP=42;Dels=0.0;FS=1.216;HRun=1;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=-0.277;QD=13.85;ReadPosRankSum=-0.327;SNPEFF_AMINO_ACID_CHANGE=I212T;SNPEFF_CODON_CHANGE=aTc/aCc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_79095405_79095600;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IFI44L;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000450498 GT:AD:DP:GQ:PL 0/1:21,21:42:99:612,0,571
1 79106899 rs273252 T C 241.72 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=0.872;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.75;MQ0=0;MQRankSum=1.927;QD=16.11;ReadPosRankSum=-1.096;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IFI44L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000459784 GT:AD:DP:GQ:PL 0/1:7,8:15:99:272,0,236
1 79128320 rs11577395 A G 136.83 PASS AB=0.611;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.367;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.653;QD=7.2;ReadPosRankSum=0.452;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=IFI44;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000438486 GT:AD:DP:GQ:PL 0/1:11,7:18:99:167,0,410
1 79128570 rs3835474 G GT 1116.37 PASS AB=0.659;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.944;DB;DP=54;FS=0.0;HRun=1;HaplotypeScore=117.1776;IndelType=I;MQ=59.98;MQ0=0;MQRankSum=0.704;QD=20.67;ReadPosRankSum=-1.808;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=IFI44;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000438486 GT:AD:DP:GQ:PL 0/1:26,28:54:99:1155,0,885
1 79152433 rs12128384 T C 40.46 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.026;QD=10.11;ReadPosRankSum=1.026;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AC104837.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408756 GT:AD:DP:GQ:PL 0/1:2,2:4:50.30:70,0,50
1 79152696 rs11804167 A G 1313.71 PASS AB=0.521;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.082;DB;DP=94;Dels=0.0;FS=6.786;HRun=1;HaplotypeScore=1.999;MQ=60.0;MQ0=0;MQRankSum=-1.196;QD=13.98;ReadPosRankSum=-0.462;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AC104837.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408756 GT:AD:DP:GQ:PL 0/1:49,45:94:99:1344,0,1618
1 79355596 rs1061728 A G 916.74 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=0.971;DB;DP=60;Dels=0.0;FS=6.291;HRun=0;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=-1.667;QD=15.28;ReadPosRankSum=-0.022;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ELTD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401034 GT:AD:DP:GQ:PL 0/1:28,32:60:99:947,0,822
1 79358743 rs10640737 C CA 191.61 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.237;DB;DP=39;FS=0.0;HRun=17;HaplotypeScore=291.8189;IndelType=I;MQ=52.59;MQ0=0;MQRankSum=-1.54;QD=4.91;ReadPosRankSum=-1.659;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ELTD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370742 GT:AD:DP:GQ:PL 1/1:26,6:39:6.18:232,6,0
1 79383300 rs5775467 CA C 799.46 PASS AB=0.547;AC=1;AF=0.50;AN=2;BaseQRankSum=3.435;DB;DP=29;FS=0.0;HRun=2;HaplotypeScore=74.2514;IndelType=D;MQ=60.33;MQ0=0;MQRankSum=1.934;QD=27.57;ReadPosRankSum=-1.415;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ELTD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370742 GT:AD:DP:GQ:PL 0/1:5,24:29:99:838,0,138
1 79383458 rs12569007 A T 2936.93 PASS AC=2;AF=1.00;AN=2;DB;DP=80;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=59.42;MQ0=0;QD=36.71;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ELTD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370742 GT:AD:DP:GQ:PL 1/1:0,80:80:99:2970,223,0
1 79386139 rs41312732 A G 302.45 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=0.956;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.15;MQ0=0;MQRankSum=-1.484;QD=13.75;ReadPosRankSum=-0.297;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ELTD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370742 GT:AD:DP:GQ:PL 0/1:12,10:22:99:332,0,405
1 79392446 rs59554507 C T 42.86 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=14.29;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ELTD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370742 GT:AD:DP:GQ:PL 0/1:1,2:3:32.20:73,0,32
1 79392756 rs12754818 C A 1912.99 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.16;SNPEFF_AMINO_ACID_CHANGE=V300L;SNPEFF_CODON_CHANGE=Gta/Tta;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_79392571_79392776;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ELTD1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000370742 GT:AD:DP:GQ:PL 1/1:0,56:56:99:1946,150,0
1 79401927 rs61770681 A G 4524.82 PASS AC=2;AF=1.00;AN=2;DB;DP=140;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.581;MQ=57.44;MQ0=0;QD=32.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ELTD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370742 GT:AD:DP:GQ:PL 1/1:1,139:140:99:4525,346,0
1 79402199 rs79353007 T C 132.44 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=2.793;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.05;MQ0=0;MQRankSum=1.0;QD=11.04;ReadPosRankSum=0.135;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ELTD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370742 GT:AD:DP:GQ:PL 0/1:7,5:12:99:162,0,239
1 79402254 rs1489396 G A 50.52 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ELTD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370742 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
1 79403335 rs1352555 T C 271.47 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.93;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ELTD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370742 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:304,24,0
1 79403450 rs3811438 T C 701.98 PASS AB=0.603;AC=1;AF=0.50;AN=2;BaseQRankSum=2.241;DB;DP=63;Dels=0.0;FS=1.592;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=-0.021;QD=11.14;ReadPosRankSum=0.414;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ELTD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370742 GT:AD:DP:GQ:PL 0/1:38,25:63:99:732,0,1316
1 79403751 rs985277 T G 1027.06 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=59.32;MQ0=0;QD=30.21;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ELTD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370742 GT:AD:DP:GQ:PL 1/1:0,34:34:81.26:1060,81,0
1 79404779 rs7526334 T A 140.91 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.493;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.312;QD=10.84;ReadPosRankSum=1.369;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ELTD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370742 GT:AD:DP:GQ:PL 0/1:7,6:13:99:171,0,252
1 79411888 rs723898 T C 261.13 PASS AB=0.308;AC=1;AF=0.50;AN=2;BaseQRankSum=1.312;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.62;QD=20.09;ReadPosRankSum=0.54;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ELTD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370742 GT:AD:DP:GQ:PL 0/1:4,9:13:99:291,0,129
1 79411951 rs11162579 G A 403.86 PASS AB=0.588;AC=1;AF=0.50;AN=2;BaseQRankSum=3.377;DB;DP=34;Dels=0.0;FS=6.808;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.612;QD=11.88;ReadPosRankSum=-2.012;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ELTD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370742 GT:AD:DP:GQ:PL 0/1:20,14:34:99:434,0,545
1 79474385 rs12739018 C G 80.44 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=55.21;MQ0=0;MQRankSum=0.727;QD=16.09;ReadPosRankSum=0.727;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ELTD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370742 GT:AD:DP:GQ:PL 0/1:1,4:5:29.72:110,0,30
1 82302403 rs17107279 T C 47.98 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.99;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=LPHN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271029 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
1 82402364 rs146832818 TAATC T 1005.16 PASS AC=2;AF=1.00;AN=2;DB;DP=19;FS=0.0;HRun=0;HaplotypeScore=125.2773;IndelType=D;MQ=45.91;MQ0=0;QD=50.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=LPHN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271029 GT:AD:DP:GQ:PL 1/1:1,19:19:54.19:1047,54,0
1 82415814 rs9438715 T C 2509.69 PASS AC=2;AF=1.00;AN=2;DB;DP=73;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=59.37;MQ0=0;QD=34.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=LPHN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271029 GT:AD:DP:GQ:PL 1/1:0,73:73:99:2543,190,0
1 82421596 rs11163397 C T 1887.92 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9789;MQ=59.68;MQ0=0;QD=32.55;SNPEFF_AMINO_ACID_CHANGE=P544;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_82421561_82421744;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=LPHN2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000370721 GT:AD:DP:GQ:PL 1/1:0,58:58:99:1921,141,0
1 82436421 rs6598976 C T 46.97 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.48;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=LPHN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468283 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:78,6,0
1 83698071 rs140513376 G A 102.89 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=2.52;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.25;MQ0=1;MQRankSum=-0.896;QD=8.57;ReadPosRankSum=0.278;SNPEFF_EFFECT=INTERGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 0/1:8,4:12:99:133,0,222
1 83698159 rs144255141 G C 442.94 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.612;DB;DP=45;Dels=0.0;FS=1.243;HRun=1;HaplotypeScore=0.0;MQ=55.03;MQ0=4;MQRankSum=-0.748;QD=9.84;ReadPosRankSum=0.693;SNPEFF_EFFECT=INTERGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 0/1:27,18:45:99:473,0,622
1 83920455 rs150970401 G C 442.93 MQFilter40 AB=0.646;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.245;DB;DP=113;Dels=0.0;FS=1.304;HRun=0;HaplotypeScore=0.0;MQ=18.79;MQ0=47;MQRankSum=2.067;QD=3.92;ReadPosRankSum=1.713;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=RP11-413G15.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000446227 GT:AD:DP:GQ:PL 0/1:73,40:113:99:473,0,655
1 84259364 rs112077743 ATT A 497.96 PASS AC=2;AF=1.00;AN=2;DB;DP=22;FS=0.0;HRun=15;HaplotypeScore=98.0887;IndelType=D;MQ=57.3;MQ0=0;QD=22.63;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RP11-475O6.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000417975 GT:AD:DP:GQ:PL 1/1:1,20:22:62.73:540,63,0
1 84259660 rs17520771 C A 3131.06 PASS AC=2;AF=1.00;AN=2;DB;DP=92;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=59.75;MQ0=0;QD=34.03;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AL035706.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000411299 GT:AD:DP:GQ:PL 1/1:0,92:92:99:3164,244,0
1 84355418 rs11163862 T A 93.19 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.06;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTLL7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370704 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:125,9,0
1 84355734 rs71826512 AAGAACTTCAAGGAT A 1835.28 PASS AC=2;AF=1.00;AN=2;DB;DP=19;FS=0.0;HRun=0;HaplotypeScore=256.2782;IndelType=D;MQ=38.07;MQ0=0;QD=96.59;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTLL7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260505 GT:AD:DP:GQ:PL 1/1:3,16:19:48.16:1877,48,0
1 84365653 rs980418 T G 172.97 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.59;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTLL7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370703 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:206,15,0
1 84383491 rs12135028 T C 173.95 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.99;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTLL7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260505 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:207,15,0
1 84640691 rs582201 T G 1685.41 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9998;MQ=59.24;MQ0=0;QD=30.64;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRKACB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370679 GT:AD:DP:GQ:PL 1/1:0,55:55:99:1718,129,0
1 84640834 rs12132002 T G 396.87 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.08;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRKACB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370679 GT:AD:DP:GQ:PL 1/1:0,11:11:33.11:430,33,0
1 84662712 rs2134649 T G 51.22 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.61;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRKACB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000436133 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
1 84701251 rs600674 T C 53.52 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.76;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRKACB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370679 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:85,6,0
1 84791239 rs315555 T C 425.30 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SAMD13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370668 GT:AD:DP:GQ:PL 1/1:0,13:13:36.11:458,36,0
1 84810345 rs186405 G A 110.15 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=55.21;MQ0=0;QD=22.03;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SAMD13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370668 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:143,12,0
1 84810396 rs315528 A C 833.25 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.99;MQ0=0;QD=36.23;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SAMD13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370668 GT:AD:DP:GQ:PL 1/1:0,23:23:66.21:866,66,0
1 84810815 rs315527 A G 51.75 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SAMD13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370667 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:83,6,0
1 84864256 rs3738573 G C 1383.20 PASS AB=0.603;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.534;DB;DP=116;Dels=0.0;FS=1.626;HRun=0;HaplotypeScore=0.8667;MQ=59.08;MQ0=0;MQRankSum=-0.292;QD=11.92;ReadPosRankSum=-0.621;SNPEFF_AMINO_ACID_CHANGE=Q3H;SNPEFF_CODON_CHANGE=caG/caC;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_84864215_84864372;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNASE2B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000370665 GT:AD:DP:GQ:PL 0/1:70,46:116:99:1413,0,2194
1 84867610 rs3754274 G A 385.68 PASS AB=0.48;AC=1;AF=0.50;AN=2;BaseQRankSum=3.128;DB;DP=25;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=-1.278;QD=15.43;ReadPosRankSum=1.55;SNPEFF_AMINO_ACID_CHANGE=R51K;SNPEFF_CODON_CHANGE=aGa/aAa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_84867584_84867761;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNASE2B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000370665 GT:AD:DP:GQ:PL 0/1:12,13:25:99:416,0,409
1 84873932 . A G 74.47 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.406;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=12.41;ReadPosRankSum=0.406;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNASE2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370665 GT:AD:DP:GQ:PL 0/1:3,3:6:99:104,0,105
1 84874242 rs3116406 C G 1234.20 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.57;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNASE2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370662 GT:AD:DP:GQ:PL 1/1:0,32:32:93.28:1267,93,0
1 84876711 rs3216015 C CA 3125.81 PASS AC=2;AF=1.00;AN=2;DB;DP=66;FS=0.0;HRun=8;HaplotypeScore=297.4498;IndelType=I;MQ=60.78;MQ0=0;QD=47.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNASE2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370662 GT:AD:DP:GQ:PL 1/1:0,66:66:99:3168,199,0
1 84876731 rs1506700 T G 1600.57 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.94;MQ0=0;QD=34.79;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNASE2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370662 GT:AD:DP:GQ:PL 1/1:0,46:46:99:1634,120,0
1 84878380 rs3116423 A G 245.09 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.01;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNASE2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370662 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:278,21,0
1 84880380 rs3768250 T C 1618.35 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.72;SNPEFF_AMINO_ACID_CHANGE=H305;SNPEFF_CODON_CHANGE=caT/caC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_84880211_84880701;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNASE2B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000370665 GT:AD:DP:GQ:PL 1/1:0,48:48:99:1651,129,0
1 84944907 . A AG 243.34 PASS AB=0.579;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.566;DP=11;FS=0.0;HRun=5;HaplotypeScore=22.6514;IndelType=I;MQ=60.0;MQ0=0;MQRankSum=-0.566;QD=22.12;ReadPosRankSum=-0.382;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370654 GT:AD:DP:GQ:PL 0/1:3,8:11:62.88:282,0,63
1 84944989 rs2292191 A G 277.12 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.307;DB;DP=30;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.6;MQ0=0;MQRankSum=0.995;QD=9.24;ReadPosRankSum=0.868;SNPEFF_AMINO_ACID_CHANGE=S9G;SNPEFF_CODON_CHANGE=Agc/Ggc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_84944950_84945192;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RPF1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000370654 GT:AD:DP:GQ:PL 0/1:18,12:30:99:307,0,601
1 84946619 rs34688892 C CT 729.40 PASS AB=0.734;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.543;DB;DP=80;FS=3.509;HRun=9;HaplotypeScore=244.5059;IndelType=I;MQ=59.41;MQ0=0;MQRankSum=-0.849;QD=9.12;ReadPosRankSum=-0.314;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370654 GT:AD:DP:GQ:PL 0/1:50,29:80:99:768,0,832
1 84946745 rs7413066 C T 2033.92 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.62;MQ0=0;QD=33.34;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370654 GT:AD:DP:GQ:PL 1/1:0,61:61:99:2067,168,0
1 84948540 rs17110157 A G 214.17 PASS AB=0.656;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.825;DB;DP=32;Dels=0.0;FS=9.551;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.309;QD=6.69;ReadPosRankSum=-1.27;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370654 GT:AD:DP:GQ:PL 0/1:21,11:32:99:244,0,789
1 84956161 rs11440073 C CT 419.65 PASS AB=0.744;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.415;DB;DP=61;FS=7.526;HRun=11;HaplotypeScore=233.1529;IndelType=I;MQ=58.86;MQ0=0;MQRankSum=-0.011;QD=6.88;ReadPosRankSum=1.108;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370654 GT:AD:DP:GQ:PL 0/1:40,20:61:99:459,0,431
1 84961108 rs7528067 G A 765.99 PASS AB=0.413;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.718;DB;DP=46;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.156;QD=16.65;ReadPosRankSum=1.093;SNPEFF_AMINO_ACID_CHANGE=M223I;SNPEFF_CODON_CHANGE=atG/atA;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_84961056_84961138;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RPF1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000370654 GT:AD:DP:GQ:PL 0/1:19,27:46:99:796,0,499
1 84963000 rs1246159 A G 45.67 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.58;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.296;QD=4.57;ReadPosRankSum=-0.296;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GNG5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370641 GT:AD:DP:GQ:PL 0/1:7,3:10:75.66:76,0,241
1 84971819 rs76421103 G A 104.13 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.159;DB;DP=10;Dels=0.0;FS=2.808;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=1.159;QD=10.41;ReadPosRankSum=0.361;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GNG5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000487806 GT:AD:DP:GQ:PL 0/1:5,5:10:99:134,0,121
1 84971833 rs11163985 G C 52.07 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.322;DB;DP=9;Dels=0.0;FS=4.26;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.322;QD=5.79;ReadPosRankSum=-0.684;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GNG5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000487806 GT:AD:DP:GQ:PL 0/1:4,5:9:82.06:82,0,87
1 84982259 rs2794218 T C 37.27 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=12.42;ReadPosRankSum=-0.736;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SPATA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263717 GT:AD:DP:GQ:PL 0/1:1,2:3:33.20:67,0,33
1 84986213 rs5775789 AT A 971.70 PASS AC=2;AF=1.00;AN=2;DB;DP=41;FS=0.0;HRun=10;HaplotypeScore=107.8635;IndelType=D;MQ=60.23;MQ0=0;QD=23.7;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SPATA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263717 GT:AD:DP:GQ:PL 1/1:2,39:41:99:1014,117,0
1 84986412 rs17110700 G T 658.20 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.514;DB;DP=46;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.725;QD=14.31;ReadPosRankSum=-1.091;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SPATA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263717 GT:AD:DP:GQ:PL 0/1:23,23:46:99:688,0,751
1 84991669 rs10493753 G C 1859.68 PASS AB=0.451;AC=1;AF=0.50;AN=2;BaseQRankSum=1.274;DB;DP=113;Dels=0.0;FS=3.49;HRun=0;HaplotypeScore=1.9992;MQ=59.8;MQ0=0;MQRankSum=-0.438;QD=16.46;ReadPosRankSum=0.216;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SPATA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263717 GT:AD:DP:GQ:PL 0/1:51,62:113:99:1890,0,1686
1 84998445 rs6690204 C G 278.13 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.644;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.6;MQ0=0;MQRankSum=-0.578;QD=15.45;ReadPosRankSum=-0.133;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SPATA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263717 GT:AD:DP:GQ:PL 0/1:8,10:18:99:308,0,283
1 84999571 rs10874451 T C 196.05 PASS AB=0.588;AC=1;AF=0.50;AN=2;BaseQRankSum=2.001;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.122;QD=11.53;ReadPosRankSum=0.439;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SPATA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263717 GT:AD:DP:GQ:PL 0/1:10,7:17:99:226,0,348
1 85009635 rs9782922 T C 82.16 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=20.54;ReadPosRankSum=0.727;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SPATA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263717 GT:AD:DP:GQ:PL 0/1:1,3:4:29.72:112,0,30
1 85011154 rs17111233 C T 55.25 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.21;MQ0=0;MQRankSum=0.358;QD=11.05;ReadPosRankSum=0.358;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SPATA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263717 GT:AD:DP:GQ:PL 0/1:2,3:5:68.95:85,0,69
1 85011484 rs142405604 T G 490.58 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.583;DB;DP=34;Dels=0.0;FS=15.933;HRun=0;HaplotypeScore=1.6006;MQ=60.0;MQ0=0;MQRankSum=-1.447;QD=14.43;ReadPosRankSum=-1.516;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SPATA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263717 GT:AD:DP:GQ:PL 0/1:17,17:34:99:521,0,559
1 85016177 rs1400777 A G 74.67 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=-0.365;QD=7.47;ReadPosRankSum=-1.036;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CTBS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370625 GT:AD:DP:GQ:PL 0/1:6,4:10:99:105,0,179
1 85020637 rs11801891 G T 522.01 PASS AB=0.486;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.172;DB;DP=35;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=0.908;QD=14.91;ReadPosRankSum=-0.71;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CTBS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477677 GT:AD:DP:GQ:PL 0/1:17,18:35:99:552,0,524
1 85020649 rs1043493 C T 690.94 PASS AB=0.457;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.786;DB;DP=46;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.397;QD=15.02;ReadPosRankSum=-0.551;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CTBS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477677 GT:AD:DP:GQ:PL 0/1:21,25:46:99:721,0,644
1 85036239 rs2303306 C G 611.38 PASS AB=0.607;AC=1;AF=0.50;AN=2;BaseQRankSum=0.21;DB;DP=56;Dels=0.0;FS=3.856;HRun=1;HaplotypeScore=0.0;MQ=59.59;MQ0=0;MQRankSum=-0.545;QD=10.92;ReadPosRankSum=-0.495;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CTBS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370630 GT:AD:DP:GQ:PL 0/1:34,22:56:99:641,0,1074
1 85096589 rs12125951 T G 118.37 PASS AB=0.143;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=16.91;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf180;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327308 GT:AD:DP:GQ:PL 0/1:1,6:7:27.18:148,0,27
1 85113203 rs2994949 T C 1150.66 PASS AB=0.53;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.339;DB;DP=83;Dels=0.0;FS=1.832;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.028;QD=13.86;ReadPosRankSum=0.972;SNPEFF_AMINO_ACID_CHANGE=A559;SNPEFF_CODON_CHANGE=gcA/gcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_85109390_85113290;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SSX2IP;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000437941 GT:AD:DP:GQ:PL 0/1:44,39:83:99:1181,0,1338
1 85128280 rs2994437 T C 62.89 PASS AB=0.8;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.374;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.306;QD=2.52;ReadPosRankSum=-0.17;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SSX2IP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000422026 GT:AD:DP:GQ:PL 0/1:20,5:25:92.88:93,0,732
1 85131982 rs3096445 T G 242.35 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=3.041;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.06;QD=10.1;ReadPosRankSum=-1.133;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SSX2IP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342203 GT:AD:DP:GQ:PL 0/1:15,9:24:99:272,0,536
1 85331808 . G GAGA 2638.19 PASS AB=0.691;AC=1;AF=0.50;AN=2;BaseQRankSum=-7.212;DP=103;FS=3.294;HRun=0;HaplotypeScore=312.3165;IndelType=I;MQ=57.58;MQ0=0;MQRankSum=-1.411;QD=25.61;ReadPosRankSum=-1.524;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LPAR3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491034 GT:AD:DP:GQ:PL 0/1:57,44:103:99:2677,0,2019
1 85392324 rs6681025 C T 300.10 PASS AB=0.409;AC=1;AF=0.50;AN=2;BaseQRankSum=1.603;DB;DP=22;Dels=0.0;FS=3.981;HRun=0;HaplotypeScore=0.0;MQ=59.15;MQ0=0;MQRankSum=0.735;QD=13.64;ReadPosRankSum=1.068;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MCOLN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284027 GT:AD:DP:GQ:PL 0/1:9,13:22:99:330,0,264
1 85397286 rs34793286 G C 736.37 PASS AB=0.511;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.798;DB;DP=47;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.6;MQ0=0;MQRankSum=-1.33;QD=15.67;ReadPosRankSum=1.224;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MCOLN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284027 GT:AD:DP:GQ:PL 0/1:24,23:47:99:766,0,832
1 85405072 . T G 39.56 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.727;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=9.89;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MCOLN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284027 GT:AD:DP:GQ:PL 0/1:1,3:4:32.73:70,0,33
1 85417779 rs679961 G A 71.01 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=7;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.75;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MCOLN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284027 GT:AD:DP:GQ:PL 1/1:1,3:4:9.03:103,9,0
1 85418307 rs677476 C G 71.07 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.537;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=11.85;ReadPosRankSum=0.406;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MCOLN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284027 GT:AD:DP:GQ:PL 0/1:3,3:6:95.18:101,0,95
1 85422061 rs632545 C T 549.90 PASS AB=0.459;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.173;DB;DP=37;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.411;QD=14.86;ReadPosRankSum=-0.716;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MCOLN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284027 GT:AD:DP:GQ:PL 0/1:17,20:37:99:580,0,559
1 85422378 rs550766 T C 184.26 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=-0.278;QD=16.75;ReadPosRankSum=-1.034;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MCOLN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284027 GT:AD:DP:GQ:PL 0/1:4,7:11:99:214,0,137
1 85424182 rs673998 A G 851.21 PASS AB=0.507;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.791;DB;DP=69;Dels=0.0;FS=1.02;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.527;QD=12.34;ReadPosRankSum=-0.546;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MCOLN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284027 GT:AD:DP:GQ:PL 0/1:35,34:69:99:881,0,1167
1 85424479 rs674182 A G 242.55 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=1.468;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=2.007;QD=17.32;ReadPosRankSum=-0.627;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MCOLN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284027 GT:AD:DP:GQ:PL 0/1:6,8:14:99:273,0,199
1 85462582 rs11161503 C G 333.45 PASS AB=0.621;AC=1;AF=0.50;AN=2;BaseQRankSum=0.894;DB;DP=29;Dels=0.0;FS=12.231;HRun=3;HaplotypeScore=0.0;MQ=59.36;MQ0=0;MQRankSum=-0.376;QD=11.5;ReadPosRankSum=2.211;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MCOLN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284027 GT:AD:DP:GQ:PL 0/1:18,11:29:99:363,0,409
1 85487520 rs10518327 G A 42.22 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=14.07;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MCOLN3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370587 GT:AD:DP:GQ:PL 0/1:1,2:3:27.95:72,0,28
1 85488030 rs2028304 G A 929.17 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.4959;MQ=59.38;MQ0=0;QD=30.97;SNPEFF_AMINO_ACID_CHANGE=L327;SNPEFF_CODON_CHANGE=ctC/ctT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_85487982_85488083;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MCOLN3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000341115 GT:AD:DP:GQ:PL 1/1:0,30:30:69.23:962,69,0
1 85488154 rs2039814 G C 260.78 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.6;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MCOLN3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370587 GT:AD:DP:GQ:PL 1/1:0,8:8:21.07:294,21,0
1 85511057 . AAAC A 193.02 PASS AB=0.8;AC=1;AF=0.50;AN=2;BaseQRankSum=3.241;DP=28;FS=0.0;HRun=0;HaplotypeScore=108.1921;IndelType=D;MQ=61.15;MQ0=0;MQRankSum=0.635;QD=6.89;ReadPosRankSum=-0.367;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MCOLN3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302814 GT:AD:DP:GQ:PL 0/1:21,7:28:99:232,0,903
1 85537502 rs4907131 T A 474.63 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.51;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294664 GT:AD:DP:GQ:PL 1/1:0,13:13:39.13:508,39,0
1 85537522 rs4907132 T C 932.99 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294664 GT:AD:DP:GQ:PL 1/1:0,25:25:72.22:966,72,0
1 85537890 rs7527292 G A 129.98 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.5;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294664 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:162,12,0
1 85538603 rs4907022 C A 146.88 PASS AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.04;MQ0=0;MQRankSum=0.736;QD=24.48;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294664 GT:AD:DP:GQ:PL 0/1:1,5:6:24.59:177,0,25
1 85538655 rs28417745 A G 54.80 QDFilter2 AB=0.594;AC=1;AF=0.50;AN=2;BaseQRankSum=1.209;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=5.7092;MQ=47.12;MQ0=0;MQRankSum=2.946;QD=1.71;ReadPosRankSum=-1.333;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294664 GT:AD:DP:GQ:PL 0/1:19,13:32:11.70:85,0,12
1 85538947 rs4907133 A G 85.08 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294664 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:117,9,0
1 85547270 rs10782539 A G 85.86 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.62;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294664 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:118,9,0
1 85547945 rs7534574 T C 386.01 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.09;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294664 GT:AD:DP:GQ:PL 1/1:0,11:11:30.10:419,30,0
1 85550156 . A AAT 1016 PASS AB=0.59;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.838;DP=36;FS=0.0;HRun=0;HaplotypeScore=105.2412;IndelType=I;MQ=60.53;MQ0=0;MQRankSum=1.725;QD=28.22;ReadPosRankSum=-1.057;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294664 GT:AD:DP:GQ:PL 0/1:11,23:36:91.75:1055,0,92
1 85555672 rs1417351 A C 272.11 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.01;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294664 GT:AD:DP:GQ:PL 1/1:0,8:8:24.06:305,24,0
1 85559118 rs11304107 CT C 1419.45 PASS AC=2;AF=1.00;AN=2;DB;DP=51;FS=0.0;HRun=7;HaplotypeScore=129.5975;IndelType=D;MQ=60.63;MQ0=0;QD=27.83;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294664 GT:AD:DP:GQ:PL 1/1:3,48:51:99:1461,144,0
1 85559396 rs41289039 G C 484.41 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.166;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9469;MQ=59.38;MQ0=0;MQRankSum=-1.784;QD=16.15;ReadPosRankSum=0.124;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294664 GT:AD:DP:GQ:PL 0/1:15,15:30:99:514,0,531
1 85559452 rs709762 A G 73.46 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=2.054;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=-0.573;QD=8.16;ReadPosRankSum=1.001;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294664 GT:AD:DP:GQ:PL 0/1:6,3:9:99:103,0,146
1 85559922 rs709763 C G 206.37 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.831;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9998;MQ=60.0;MQ0=0;MQRankSum=0.831;QD=17.2;ReadPosRankSum=-0.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294664 GT:AD:DP:GQ:PL 0/1:5,7:12:99:236,0,164
1 85560264 rs709764 G A 767.65 PASS AB=0.633;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.229;DB;DP=79;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.9536;MQ=59.76;MQ0=0;MQRankSum=-0.554;QD=9.72;ReadPosRankSum=0.259;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294664 GT:AD:DP:GQ:PL 0/1:50,29:79:99:798,0,1640
1 85560313 rs709765 T C 345.01 PASS AB=0.65;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.077;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9789;MQ=60.0;MQ0=0;MQRankSum=-0.468;QD=8.63;ReadPosRankSum=-1.007;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294664 GT:AD:DP:GQ:PL 0/1:26,14:40:99:375,0,877
1 85561546 rs709766 T C 418.11 PASS AB=0.519;AC=1;AF=0.50;AN=2;BaseQRankSum=1.043;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.073;QD=15.49;ReadPosRankSum=-1.626;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294664 GT:AD:DP:GQ:PL 0/1:14,13:27:99:448,0,471
1 85561872 rs817596 C T 51.16 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294664 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
1 85564138 rs817489 A G 692.21 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=2.708;DB;DP=48;Dels=0.0;FS=7.952;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.14;QD=14.42;ReadPosRankSum=-1.537;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294664 GT:AD:DP:GQ:PL 0/1:20,28:48:99:722,0,628
1 85564544 rs709770 C T 82.54 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.51;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294664 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:115,9,0
1 85573705 rs11427716 A ACT 404.03 PASS AC=2;AF=1.00;AN=2;DB;DP=11;FS=0.0;HRun=0;HaplotypeScore=39.9041;IndelType=I;MQ=60.98;MQ0=0;QD=36.73;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294664 GT:AD:DP:GQ:PL 1/1:3,6:11:32.03:446,32,0
1 85574021 rs709759 G A 214.88 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=0.896;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.597;QD=19.53;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294664 GT:AD:DP:GQ:PL 0/1:4,7:11:99:245,0,129
1 85583323 rs817471 T A 962.10 PASS AB=0.548;AC=1;AF=0.50;AN=2;BaseQRankSum=2.977;DB;DP=73;Dels=0.0;FS=2.577;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.338;QD=13.18;ReadPosRankSum=0.501;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294664 GT:AD:DP:GQ:PL 0/1:40,33:73:99:992,0,1155
1 85589842 rs17121745 A G 548.30 PASS AB=0.514;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.856;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.204;QD=14.82;ReadPosRankSum=-0.824;SNPEFF_AMINO_ACID_CHANGE=T635A;SNPEFF_CODON_CHANGE=Act/Gct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_85589804_85589934;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR63;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000326813 GT:AD:DP:GQ:PL 0/1:19,18:37:99:578,0,607
1 85590031 rs817473 G A 265.89 PASS AB=0.647;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.036;DB;DP=34;Dels=0.0;FS=4.771;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.054;QD=7.82;ReadPosRankSum=-0.126;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294664 GT:AD:DP:GQ:PL 0/1:22,12:34:99:296,0,826
1 85592126 rs817474 G T 464.69 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.55;MQ0=0;QD=35.75;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294664 GT:AD:DP:GQ:PL 1/1:0,13:13:36.12:498,36,0
1 85592619 rs709778 T C 41.02 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.51;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294664 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:72,6,0
1 85594392 rs2305930 T C 364.91 PASS AB=0.647;AC=1;AF=0.50;AN=2;BaseQRankSum=0.72;DB;DP=34;Dels=0.0;FS=4.314;HRun=1;HaplotypeScore=0.0;MQ=59.32;MQ0=0;MQRankSum=0.058;QD=10.73;ReadPosRankSum=0.292;SNPEFF_AMINO_ACID_CHANGE=S55;SNPEFF_CODON_CHANGE=tcT/tcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_85594391_85594482;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR63;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000484007 GT:AD:DP:GQ:PL 0/1:22,12:34:99:395,0,633
1 85594466 rs709783 G A 777.44 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.818;DB;DP=50;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.2434;MQ=59.54;MQ0=0;MQRankSum=-0.374;QD=15.55;ReadPosRankSum=0.172;SNPEFF_AMINO_ACID_CHANGE=R759H;SNPEFF_CODON_CHANGE=cGc/cAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_85594391_85594482;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR63;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000326813 GT:AD:DP:GQ:PL 0/1:21,28:50:99:807,0,663
1 85594573 rs2305931 T C 184.46 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.387;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.423;QD=11.53;ReadPosRankSum=-0.318;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294664 GT:AD:DP:GQ:PL 0/1:9,7:16:99:214,0,324
1 85598298 rs76081648 G A 51.75 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.87;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484007 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:83,6,0
1 85598385 rs817477 T C 87.93 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.31;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484007 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:120,9,0
1 85598527 rs5775826 TC T 1522.15 PASS AC=2;AF=1.00;AN=2;DB;DP=57;FS=0.0;HRun=8;HaplotypeScore=149.2048;IndelType=D;MQ=60.6;MQ0=0;QD=26.7;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484007 GT:AD:DP:GQ:PL 1/1:3,54:57:99:1564,162,0
1 85598679 . T TA 520.17 PASS AB=0.784;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.65;DP=69;FS=0.0;HRun=6;HaplotypeScore=182.6739;IndelType=I;MQ=59.67;MQ0=0;MQRankSum=0.672;QD=7.54;ReadPosRankSum=0.155;SNPEFF_EFFECT=FRAME_SHIFT;SNPEFF_EXON_ID=exon_1_85598538_85598820;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR63;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000294664 GT:AD:DP:GQ:PL 0/1:50,19:69:99:559,0,1122
1 85624423 rs79898762 A C 1136.50 PASS AB=0.448;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.482;DB;DP=105;Dels=0.0;FS=16.545;HRun=3;HaplotypeScore=2.4441;MQ=59.56;MQ0=0;MQRankSum=-0.101;QD=10.82;ReadPosRankSum=-0.749;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SYDE2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341460 GT:AD:DP:GQ:PL 0/1:47,58:105:99:1166,0,1549
1 85624549 rs709786 C T 6059.15 PASS AC=2;AF=1.00;AN=2;DB;DP=164;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.6483;MQ=59.72;MQ0=0;QD=36.95;SNPEFF_AMINO_ACID_CHANGE=V1157I;SNPEFF_CODON_CHANGE=Gtt/Att;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_85622556_85624932;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SYDE2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000341460 GT:AD:DP:GQ:PL 1/1:1,162:164:99:6059,445,0
1 85624864 rs817412 G A 6003.25 PASS AC=2;AF=1.00;AN=2;DB;DP=172;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.8824;MQ=59.87;MQ0=0;QD=34.9;SNPEFF_AMINO_ACID_CHANGE=L1052;SNPEFF_CODON_CHANGE=Ctg/Ttg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_85622556_85624932;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SYDE2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000341460 GT:AD:DP:GQ:PL 1/1:0,172:172:99:6003,448,0
1 85630015 rs817419 A G 68.62 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.95;MQ0=0;QD=17.16;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SYDE2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341460 GT:AD:DP:GQ:PL 1/1:0,4:4:9.02:101,9,0
1 85647713 rs817444 T C 2796.05 PASS AC=2;AF=1.00;AN=2;DB;DP=91;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.8;MQ0=0;QD=30.73;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SYDE2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341460 GT:AD:DP:GQ:PL 1/1:0,91:91:99:2829,223,0
1 85648620 rs817443 C T 5740.13 PASS AC=2;AF=1.00;AN=2;DB;DP=161;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=4.4512;MQ=59.34;MQ0=0;QD=35.65;SNPEFF_AMINO_ACID_CHANGE=V569I;SNPEFF_CODON_CHANGE=Gtt/Att;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_85647781_85648883;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SYDE2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000341460 GT:AD:DP:GQ:PL 1/1:1,160:161:99:5740,430,0
1 85655916 rs56191061 G A 3150.57 PASS AB=0.464;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.758;DB;DP=192;Dels=0.0;FS=5.233;HRun=1;HaplotypeScore=0.9832;MQ=59.52;MQ0=0;MQRankSum=0.915;QD=16.41;ReadPosRankSum=2.078;SNPEFF_AMINO_ACID_CHANGE=S422L;SNPEFF_CODON_CHANGE=tCa/tTa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_85655740_85656435;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SYDE2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000341460 GT:AD:DP:GQ:PL 0/1:89,103:192:99:3181,0,2764
1 85656596 rs12021868 T C 76.42 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.406;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.537;QD=12.74;ReadPosRankSum=0.406;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SYDE2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341460 GT:AD:DP:GQ:PL 0/1:3,3:6:99:106,0,105
1 85656680 rs817452 C A 47.97 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.98;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SYDE2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341460 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
1 85724283 rs75989026 C T 1216.03 PASS AB=0.463;AC=1;AF=0.50;AN=2;BaseQRankSum=2.654;DB;DP=80;Dels=0.0;FS=1.107;HRun=1;HaplotypeScore=2.8624;MQ=59.48;MQ0=0;MQRankSum=0.309;QD=15.2;ReadPosRankSum=-0.357;SNPEFF_AMINO_ACID_CHANGE=E133;SNPEFF_CODON_CHANGE=gaG/gaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_85724207_85724405;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C1orf52;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000344356 GT:AD:DP:GQ:PL 0/1:37,43:80:99:1246,0,1156
1 85741921 rs2735594 G C 460.16 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.4;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BCL10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271015 GT:AD:DP:GQ:PL 1/1:0,13:13:36.12:493,36,0
1 85742023 rs12037217 C A 327.49 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=0.817;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.462;QD=15.59;ReadPosRankSum=0.959;SNPEFF_AMINO_ACID_CHANGE=A5S;SNPEFF_CODON_CHANGE=Gca/Tca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_85741979_85742479;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BCL10;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000271015 GT:AD:DP:GQ:PL 0/1:9,12:21:99:357,0,220
1 85787114 rs233116 A T 1558.69 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=60.0;MQ0=0;QD=33.88;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DDAH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474200 GT:AD:DP:GQ:PL 1/1:0,46:46:99:1592,120,0
1 86119898 rs2274738 A G 245.27 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.66;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNHIT6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370574 GT:AD:DP:GQ:PL 1/1:0,8:8:21.04:278,21,0
1 86167957 rs1764298 C T 655.84 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.52;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNHIT6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370574 GT:AD:DP:GQ:PL 1/1:0,19:19:51.17:689,51,0
1 86173298 rs1539444 C T 1565.22 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.7887;MQ=59.51;MQ0=0;QD=33.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNHIT6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370574 GT:AD:DP:GQ:PL 1/1:0,47:47:99:1598,129,0
1 86210241 rs34348459 G GT 406.03 PASS AC=2;AF=1.00;AN=2;DB;DP=13;FS=0.0;HRun=4;HaplotypeScore=24.1693;IndelType=I;MQ=59.06;MQ0=0;QD=31.23;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL24A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370571 GT:AD:DP:GQ:PL 1/1:2,11:13:33.11:448,33,0
1 86210546 rs7547023 G A 786.44 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.99;MQ0=0;QD=34.19;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL24A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370571 GT:AD:DP:GQ:PL 1/1:0,23:23:63.20:819,63,0
1 86211325 rs10747324 G A 221.17 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.6;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL24A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370571 GT:AD:DP:GQ:PL 1/1:0,7:7:18.06:254,18,0
1 86246849 rs313722 A C 1699.52 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.01;MQ0=0;QD=36.16;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL24A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370571 GT:AD:DP:GQ:PL 1/1:1,46:47:99:1733,129,0
1 86249063 rs313724 C T 925.61 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.63;MQ0=0;QD=35.6;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL24A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370571 GT:AD:DP:GQ:PL 1/1:0,26:26:72.23:959,72,0
1 86249911 rs313725 A G 2617.06 PASS AC=2;AF=1.00;AN=2;DB;DP=76;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=59.7;MQ0=0;QD=34.44;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL24A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370571 GT:AD:DP:GQ:PL 1/1:0,76:76:99:2650,199,0
1 86252025 rs12746325 A G 2435.81 PASS AC=2;AF=1.00;AN=2;DB;DP=72;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.68;MQ0=0;QD=33.83;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL24A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370571 GT:AD:DP:GQ:PL 1/1:0,72:72:99:2469,190,0
1 86289082 rs1842579 C T 124.38 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL24A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370571 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:157,12,0
1 86307111 . T C 59.16 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.727;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.16;MQ0=0;MQRankSum=-0.727;QD=14.79;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL24A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370571 GT:AD:DP:GQ:PL 0/1:1,3:4:28.61:89,0,29
1 86308225 rs1010058 C A 147.51 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL24A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370571 GT:AD:DP:GQ:PL 1/1:0,7:7:15.05:180,15,0
1 86313536 rs1962482 G T 208.78 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.965;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.8737;MQ=60.0;MQ0=0;MQRankSum=0.965;QD=14.91;ReadPosRankSum=1.365;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL24A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370571 GT:AD:DP:GQ:PL 0/1:6,8:14:99:239,0,207
1 86340262 rs12136023 C A 561.66 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9998;MQ=60.0;MQ0=0;QD=35.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL24A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370571 GT:AD:DP:GQ:PL 1/1:0,16:16:45.14:595,45,0
1 86340523 rs1564518 T C 81.08 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.27;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL24A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370571 GT:AD:DP:GQ:PL 1/1:0,4:4:12.01:114,12,0
1 86340524 rs1564517 G A 81.08 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.27;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL24A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370571 GT:AD:DP:GQ:PL 1/1:0,4:4:12.01:114,12,0
1 86340705 rs2086495 G T 53.53 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.84;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL24A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370571 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:85,6,0
1 86340794 rs1564516 T C 94.19 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.4;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL24A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370571 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:126,9,0
1 86340880 rs1564515 A G 618.44 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL24A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370571 GT:AD:DP:GQ:PL 1/1:0,17:17:48.15:651,48,0
1 86341153 rs12122234 G A 163.71 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.74;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL24A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370571 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:196,15,0
1 86361384 rs4912449 C T 126.69 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.67;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL24A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370571 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:159,12,0
1 86361802 rs7541806 C G 173.48 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=0.289;DB;DP=15;Dels=0.0;FS=2.447;HRun=0;HaplotypeScore=0.0;MQ=58.45;MQ0=0;MQRankSum=-0.289;QD=11.57;ReadPosRankSum=-0.868;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL24A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370571 GT:AD:DP:GQ:PL 0/1:8,7:15:99:203,0,240
1 86362184 rs71954147 A AT 80.02 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.876;DB;DP=15;FS=0.0;HRun=12;HaplotypeScore=71.5676;IndelType=I;MQ=61.43;MQ0=0;MQRankSum=-0.361;QD=5.33;ReadPosRankSum=-0.361;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL24A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370571 GT:AD:DP:GQ:PL 0/1:9,6:15:60.55:119,0,61
1 86375654 rs1502657 C G 1900.88 PASS AB=0.539;AC=1;AF=0.50;AN=2;BaseQRankSum=3.889;DB;DP=155;Dels=0.0;FS=5.94;HRun=2;HaplotypeScore=1.367;MQ=59.85;MQ0=0;MQRankSum=0.268;QD=12.26;ReadPosRankSum=-0.489;SNPEFF_AMINO_ACID_CHANGE=P883;SNPEFF_CODON_CHANGE=ccG/ccC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_86375633_86375686;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL24A1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000370571 GT:AD:DP:GQ:PL 0/1:83,71:155:99:1931,0,2451
1 86430753 rs183034973 A G 435.11 PASS AB=0.595;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.025;DB;DP=42;Dels=0.0;FS=4.525;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.717;QD=10.36;ReadPosRankSum=-0.282;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL24A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370571 GT:AD:DP:GQ:PL 0/1:25,17:42:99:465,0,790
1 86435957 . T TA 747.45 PASS AB=0.675;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.155;DP=83;FS=0.0;HRun=13;HaplotypeScore=324.8395;IndelType=I;MQ=58.16;MQ0=0;MQRankSum=-0.353;QD=9.01;ReadPosRankSum=1.622;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL24A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370571 GT:AD:DP:GQ:PL 0/1:43,35:83:99:786,0,274
1 86453237 rs11799965 T G 216.14 PASS AB=0.745;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.477;DB;DP=47;Dels=0.0;FS=3.812;HRun=0;HaplotypeScore=0.0;MQ=59.51;MQ0=0;MQRankSum=-0.858;QD=4.6;ReadPosRankSum=0.383;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL24A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370571 GT:AD:DP:GQ:PL 0/1:35,12:47:99:246,0,1167
1 86453363 rs41287727 T C 445.31 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=1.957;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.1567;MQ=58.71;MQ0=0;MQRankSum=-0.834;QD=12.37;ReadPosRankSum=0.417;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL24A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370571 GT:AD:DP:GQ:PL 0/1:21,15:36:99:475,0,704
1 86482922 rs557928 A T 141.91 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=0.365;DB;DP=11;Dels=0.0;FS=2.43;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.036;QD=12.9;ReadPosRankSum=1.568;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL24A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370571 GT:AD:DP:GQ:PL 0/1:5,6:11:99:172,0,138
1 86482958 rs17128726 T A 71.46 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=1.159;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.361;QD=7.94;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL24A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370571 GT:AD:DP:GQ:PL 0/1:5,4:9:99:101,0,146
1 86487981 rs516213 G A 1725.66 PASS AC=2;AF=1.00;AN=2;DB;DP=69;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.7845;MQ=52.83;MQ0=2;QD=25.01;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL24A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370571 GT:AD:DP:GQ:PL 1/1:0,69:69:99:1759,135,0
1 86487992 rs5775882 A AACAG 3740.29 PASS AC=2;AF=1.00;AN=2;DB;DP=58;FS=0.0;HRun=0;HaplotypeScore=392.0871;IndelType=I;MQ=51.17;MQ0=2;QD=62.34;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL24A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370571 GT:AD:DP:GQ:PL 1/1:12,45:58:99:3740,144,0
1 86488232 rs641712 G A 585.05 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=1.25;DB;DP=35;Dels=0.0;FS=1.421;HRun=1;HaplotypeScore=0.0;MQ=58.67;MQ0=0;MQRankSum=0.283;QD=16.72;ReadPosRankSum=0.883;SNPEFF_AMINO_ACID_CHANGE=P731S;SNPEFF_CODON_CHANGE=Cct/Tct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_86488221_86488274;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL24A1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000370571 GT:AD:DP:GQ:PL 0/1:15,20:35:99:615,0,440
1 86497769 rs582141 C G 134.49 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.62;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL24A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370571 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:167,12,0
1 86554813 rs66572310 G GA 704.68 PASS AB=0.681;AC=1;AF=0.50;AN=2;BaseQRankSum=5.94;DB;DP=49;FS=0.0;HRun=8;HaplotypeScore=256.0521;IndelType=I;MQ=58.58;MQ0=0;MQRankSum=0.693;QD=14.38;ReadPosRankSum=1.236;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL24A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370571 GT:AD:DP:GQ:PL 0/1:26,22:49:99:744,0,492
1 86590582 rs80262773 A G 675.47 PASS AB=0.561;AC=1;AF=0.50;AN=2;BaseQRankSum=1.96;DB;DP=58;Dels=0.0;FS=3.874;HRun=0;HaplotypeScore=1.8332;MQ=58.06;MQ0=0;MQRankSum=-0.552;QD=11.65;ReadPosRankSum=0.365;SNPEFF_AMINO_ACID_CHANGE=N479;SNPEFF_CODON_CHANGE=aaT/aaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_86590528_86591897;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL24A1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000370571 GT:AD:DP:GQ:PL 0/1:32,25:58:99:705,0,898
1 86590915 rs2174767 G A 2304.18 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.38;MQ0=0;QD=34.39;SNPEFF_AMINO_ACID_CHANGE=S368;SNPEFF_CODON_CHANGE=agC/agT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_86590528_86591897;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL24A1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000370571 GT:AD:DP:GQ:PL 1/1:0,66:66:99:2337,172,0
1 86591036 rs56046090 G T 793.66 PASS AB=0.589;AC=1;AF=0.50;AN=2;BaseQRankSum=0.163;DB;DP=73;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=1.57;MQ=59.37;MQ0=0;MQRankSum=0.465;QD=10.87;ReadPosRankSum=-0.006;SNPEFF_AMINO_ACID_CHANGE=T328K;SNPEFF_CODON_CHANGE=aCa/aAa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_86590528_86591897;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL24A1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000370571 GT:AD:DP:GQ:PL 0/1:43,30:73:99:824,0,1468
1 86591837 rs11161747 G A 309.11 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.854;DB;DP=22;Dels=0.0;FS=1.971;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=14.05;ReadPosRankSum=-1.313;SNPEFF_AMINO_ACID_CHANGE=A61V;SNPEFF_CODON_CHANGE=gCg/gTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_86590528_86591897;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL24A1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000370571 GT:AD:DP:GQ:PL 0/1:11,11:22:99:339,0,364
1 86814743 rs272492 C T 87.56 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.19;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ODF2L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294678 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:120,9,0
1 86818572 rs272496 T C 2432.41 PASS AC=2;AF=1.00;AN=2;DB;DP=69;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;QD=35.25;SNPEFF_AMINO_ACID_CHANGE=E128;SNPEFF_CODON_CHANGE=gaA/gaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_86818542_86818667;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ODF2L;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000462648 GT:AD:DP:GQ:PL 1/1:0,69:69:99:2465,181,0
1 86818813 rs272497 T C 211.39 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.28;MQ0=0;QD=30.2;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ODF2L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463933 GT:AD:DP:GQ:PL 1/1:0,7:7:18.06:244,18,0
1 86818846 rs272498 G A 49.99 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ODF2L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463933 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
1 86820267 rs1182098 C T 2768.47 PASS AC=2;AF=1.00;AN=2;DB;DP=77;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.95;SNPEFF_AMINO_ACID_CHANGE=E411;SNPEFF_CODON_CHANGE=gaG/gaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_86820213_86820375;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ODF2L;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000394731 GT:AD:DP:GQ:PL 1/1:0,77:77:99:2801,205,0
1 86821194 rs111830162 A ACT 668.79 PASS AC=2;AF=1.00;AN=2;DB;DP=14;FS=0.0;HRun=0;HaplotypeScore=51.7095;IndelType=I;MQ=59.13;MQ0=0;QD=47.77;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ODF2L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463933 GT:AD:DP:GQ:PL 1/1:1,13:14:39.13:711,39,0
1 86821974 rs1182099 T A 355.04 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.87;MQ0=0;QD=32.28;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ODF2L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463933 GT:AD:DP:GQ:PL 1/1:0,11:11:30.09:388,30,0
1 86822335 . A C 219.67 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=1.134;DP=12;Dels=0.0;FS=6.264;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.239;QD=18.31;ReadPosRankSum=0.6;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ODF2L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463933 GT:AD:DP:GQ:PL 0/1:4,8:12:99:250,0,119
1 86838158 rs421105 C T 447.89 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.63;MQ0=0;QD=26.35;SNPEFF_AMINO_ACID_CHANGE=V122;SNPEFF_CODON_CHANGE=gtG/gtA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_86838114_86838223;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ODF2L;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000479890 GT:AD:DP:GQ:PL 1/1:0,17:17:36.10:481,36,0
1 86847955 rs272516 G A 919.79 PASS AB=0.492;AC=1;AF=0.50;AN=2;BaseQRankSum=4.798;DB;DP=63;Dels=0.0;FS=4.433;HRun=0;HaplotypeScore=3.9297;MQ=58.15;MQ0=0;MQRankSum=0.451;QD=14.6;ReadPosRankSum=-0.037;SNPEFF_AMINO_ACID_CHANGE=A198;SNPEFF_CODON_CHANGE=gcC/gcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_86847925_86848041;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ODF2L;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000294678 GT:AD:DP:GQ:PL 0/1:31,32:63:99:950,0,877
1 86849084 rs272518 A G 47.98 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.99;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ODF2L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478286 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
1 86850624 rs2273941 T G 33.83 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.754;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.55;QD=4.83;ReadPosRankSum=0.55;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ODF2L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478286 GT:AD:DP:GQ:PL 0/1:4,3:7:63.82:64,0,151
1 86852621 rs2390096 A G 997.22 PASS AB=0.558;AC=1;AF=0.50;AN=2;BaseQRankSum=0.518;DB;DP=77;Dels=0.0;FS=11.574;HRun=0;HaplotypeScore=3.2595;MQ=59.4;MQ0=0;MQRankSum=1.739;QD=12.95;ReadPosRankSum=-0.528;SNPEFF_AMINO_ACID_CHANGE=C30;SNPEFF_CODON_CHANGE=tgT/tgC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_86852598_86852769;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ODF2L;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000294678 GT:AD:DP:GQ:PL 0/1:43,34:77:99:1027,0,1180
1 86890931 rs1158505 T A 268.05 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.107;DB;DP=21;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.249;QD=12.76;ReadPosRankSum=-0.533;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370565 GT:AD:DP:GQ:PL 0/1:9,12:21:99:298,0,287
1 86891005 rs1158506 C A 577.57 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.199;DB;DP=32;Dels=0.0;FS=1.47;HRun=0;HaplotypeScore=2.4993;MQ=60.0;MQ0=0;MQRankSum=0.759;QD=18.05;ReadPosRankSum=0.915;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370565 GT:AD:DP:GQ:PL 0/1:12,20:32:99:608,0,379
1 86891179 rs2210641 T C 613.04 PASS AB=0.415;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.251;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.7969;MQ=59.54;MQ0=0;MQRankSum=-0.225;QD=14.95;ReadPosRankSum=-0.093;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370565 GT:AD:DP:GQ:PL 0/1:17,24:41:99:643,0,525
1 86894371 rs1334147 G T 142.41 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.517;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.322;QD=15.82;ReadPosRankSum=0.322;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000439777 GT:AD:DP:GQ:PL 0/1:3,5:8:99:172,0,104
1 86894496 rs2151709 T C 40.21 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.026;QD=10.05;ReadPosRankSum=-1.026;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000439777 GT:AD:DP:GQ:PL 0/1:2,2:4:63.22:70,0,63
1 86896354 rs4292929 G A 215.86 PASS AB=0.222;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.067;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.666;QD=23.98;ReadPosRankSum=-0.067;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000439777 GT:AD:DP:GQ:PL 0/1:2,7:9:55.57:246,0,56
1 86896541 rs3737672 G A 1543.19 PASS AB=0.475;AC=1;AF=0.50;AN=2;BaseQRankSum=2.554;DB;DP=99;Dels=0.0;FS=0.769;HRun=0;HaplotypeScore=1.9963;MQ=59.81;MQ0=0;MQRankSum=0.564;QD=15.59;ReadPosRankSum=0.62;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000439777 GT:AD:DP:GQ:PL 0/1:47,52:99:99:1573,0,1324
1 86897973 rs1334150 T C 525.41 PASS AB=0.419;AC=1;AF=0.50;AN=2;BaseQRankSum=1.256;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.293;QD=16.95;ReadPosRankSum=0.126;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000439777 GT:AD:DP:GQ:PL 0/1:13,18:31:99:555,0,433
1 86898315 rs3737159 T C 173.55 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.359;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=-0.289;QD=14.46;ReadPosRankSum=-0.536;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000439777 GT:AD:DP:GQ:PL 0/1:4,8:12:99:204,0,139
1 86913265 rs2275001 C T 1234.67 PASS AB=0.463;AC=1;AF=0.50;AN=2;BaseQRankSum=2.054;DB;DP=80;Dels=0.0;FS=3.51;HRun=0;HaplotypeScore=3.3787;MQ=59.48;MQ0=0;MQRankSum=-1.153;QD=15.43;ReadPosRankSum=0.681;SNPEFF_AMINO_ACID_CHANGE=R596;SNPEFF_CODON_CHANGE=cgC/cgT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_86913191_86913461;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCA2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000370565 GT:AD:DP:GQ:PL 0/1:37,43:80:99:1265,0,812
1 86920904 rs2390057 A G 835.68 PASS AB=0.593;AC=1;AF=0.50;AN=2;BaseQRankSum=1.252;DB;DP=81;Dels=0.0;FS=4.57;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.211;QD=10.32;ReadPosRankSum=0.624;SNPEFF_AMINO_ACID_CHANGE=Q842;SNPEFF_CODON_CHANGE=caA/caG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_86920768_86922241;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCA2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000370565 GT:AD:DP:GQ:PL 0/1:48,33:81:99:866,0,1705
1 86934966 rs1321697 C A 35.86 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.026;QD=8.97;ReadPosRankSum=1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234701 GT:AD:DP:GQ:PL 0/1:2,2:4:64.95:66,0,65
1 86938908 rs2753378 C T 51.16 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234701 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
1 86939130 rs2145412 C T 2121.31 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.15;SNPEFF_AMINO_ACID_CHANGE=L65F;SNPEFF_CODON_CHANGE=Ctt/Ttt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_86939100_86939240;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCA1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000234701 GT:AD:DP:GQ:PL 1/1:0,64:64:99:2154,160,0
1 86939390 rs2180762 G A 1807.77 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.76;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234701 GT:AD:DP:GQ:PL 1/1:0,52:52:99:1841,144,0
1 86947747 rs1321695 C A 100.19 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.731;QD=20.04;ReadPosRankSum=0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234701 GT:AD:DP:GQ:PL 0/1:1,4:5:22.78:130,0,23
1 86947975 rs1321694 A T 589.57 PASS AB=0.486;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.471;DB;DP=37;Dels=0.0;FS=5.297;HRun=1;HaplotypeScore=0.9469;MQ=60.0;MQ0=0;MQRankSum=0.684;QD=15.93;ReadPosRankSum=0.167;SNPEFF_AMINO_ACID_CHANGE=V215;SNPEFF_CODON_CHANGE=gtA/gtT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_86947888_86948065;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCA1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000234701 GT:AD:DP:GQ:PL 0/1:18,19:37:99:620,0,518
1 86952324 rs2734705 A G 887 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.705;DB;DP=72;Dels=0.0;FS=8.085;HRun=0;HaplotypeScore=2.5224;MQ=59.03;MQ0=0;MQRankSum=-0.329;QD=12.32;ReadPosRankSum=0.664;SNPEFF_AMINO_ACID_CHANGE=N357S;SNPEFF_CODON_CHANGE=aAt/aGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_86952209_86952436;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCA1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000234701 GT:AD:DP:GQ:PL 0/1:40,32:72:99:917,0,1235
1 86952601 rs2075630 A G 32.46 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=0.922;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.198;QD=4.64;ReadPosRankSum=0.198;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234701 GT:AD:DP:GQ:PL 0/1:5,2:7:62.45:62,0,183
1 86954591 rs2075632 T C 201.28 PASS AB=0.579;AC=1;AF=0.50;AN=2;BaseQRankSum=1.466;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.01;MQ0=0;MQRankSum=1.466;QD=10.59;ReadPosRankSum=-0.844;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234701 GT:AD:DP:GQ:PL 0/1:11,8:19:99:231,0,363
1 86956785 rs2753342 C G 76.17 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.39;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234701 GT:AD:DP:GQ:PL 1/1:0,3:3:9.02:108,9,0
1 86959014 rs2753346 T C 338.18 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.82;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234701 GT:AD:DP:GQ:PL 1/1:0,10:10:30.08:371,30,0
1 86959173 rs2791494 T C 1590.24 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.44;MQ0=0;QD=29.45;SNPEFF_AMINO_ACID_CHANGE=M237T;SNPEFF_CODON_CHANGE=aTg/aCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_86959067_86959282;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCA1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000539889 GT:AD:DP:GQ:PL 1/1:0,54:54:99:1623,126,0
1 86959796 rs1321689 C T 885.76 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.07;MQ0=0;QD=35.43;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234701 GT:AD:DP:GQ:PL 1/1:0,25:25:69.23:919,69,0
1 86964075 rs2753356 T G 87.93 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.31;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234701 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:120,9,0
1 86964131 rs11302985 CT C 335.85 PASS AC=2;AF=1.00;AN=2;DB;DP=9;FS=0.0;HRun=2;HaplotypeScore=21.8176;IndelType=D;MQ=57.9;MQ0=0;QD=37.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234701 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:378,27,0
1 86965419 rs1882753 T C 588.86 PASS AB=0.642;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.113;DB;DP=67;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9832;MQ=60.0;MQ0=0;MQRankSum=1.046;QD=8.79;ReadPosRankSum=-1.206;SNPEFF_AMINO_ACID_CHANGE=T812;SNPEFF_CODON_CHANGE=acT/acC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_86965337_86965942;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCA1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000234701 GT:AD:DP:GQ:PL 0/1:43,24:67:99:619,0,1449
1 87025819 rs2231582 T C 693.16 PASS AB=0.585;AC=1;AF=0.50;AN=2;BaseQRankSum=0.569;DB;DP=53;Dels=0.0;FS=2.305;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.731;QD=13.08;ReadPosRankSum=-0.099;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263723 GT:AD:DP:GQ:PL 0/1:31,22:53:99:723,0,1016
1 87031308 rs2231589 C T 102.75 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=0.922;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.421;QD=11.42;ReadPosRankSum=2.017;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263723 GT:AD:DP:GQ:PL 0/1:4,5:9:99:133,0,120
1 87036746 rs772599 C A 1739.52 PASS AB=0.543;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.355;DB;DP=138;Dels=0.0;FS=3.263;HRun=1;HaplotypeScore=3.607;MQ=60.0;MQ0=0;MQRankSum=-1.787;QD=12.61;ReadPosRankSum=0.957;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263723 GT:AD:DP:GQ:PL 0/1:75,63:138:99:1770,0,2253
1 87036946 rs2231595 C T 672.53 PASS AB=0.452;AC=1;AF=0.50;AN=2;BaseQRankSum=4.827;DB;DP=42;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9983;MQ=59.45;MQ0=0;MQRankSum=0.227;QD=16.01;ReadPosRankSum=1.213;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263723 GT:AD:DP:GQ:PL 0/1:19,23:42:99:703,0,520
1 87038240 rs2231597 T C 441.90 PASS AB=0.44;AC=1;AF=0.50;AN=2;BaseQRankSum=0.411;DB;DP=25;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.849;QD=17.68;ReadPosRankSum=2.217;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263723 GT:AD:DP:GQ:PL 0/1:11,14:25:99:472,0,373
1 87045896 rs138660049 TCCTACA T 498.15 PASS AB=0.738;AC=1;AF=0.50;AN=2;BaseQRankSum=3.933;DB;DP=31;FS=0.0;HRun=0;HaplotypeScore=184.8079;IndelType=D;MQ=55.1;MQ0=0;MQRankSum=-2.045;QD=16.07;ReadPosRankSum=-0.562;SNPEFF_AMINO_ACID_CHANGE=PT877-;SNPEFF_CODON_CHANGE=cctaca/-;SNPEFF_EFFECT=CODON_DELETION;SNPEFF_EXON_ID=exon_1_87045625_87046437;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLCA4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000370563 GT:AD:DP:GQ:PL 0/1:20,11:31:99:537,0,1363
1 87099909 rs12745600 A G 197.19 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.772;DB;DP=15;Dels=0.0;FS=2.688;HRun=0;HaplotypeScore=0.0;MQ=56.85;MQ0=0;MQRankSum=-0.34;QD=13.15;ReadPosRankSum=-1.791;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=antisense;SNPEFF_GENE_NAME=RP4-651E10.4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456587 GT:AD:DP:GQ:PL 0/1:7,8:15:99:227,0,235
1 87101245 rs2292831 A G 1521.26 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.38;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CLCA3P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284054 GT:AD:DP:GQ:PL 1/1:0,43:43:99:1554,114,0
1 87101375 rs2292830 C G 2264.63 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.367;DB;DP=66;Dels=0.0;FS=3.358;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=-0.945;QD=34.31;ReadPosRankSum=-1.732;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CLCA3P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284054 GT:AD:DP:GQ:PL 1/1:1,65:66:99:2298,133,0
1 87185449 rs263465 T G 85.04 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=0.437;DB;DP=13;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.696;QD=6.54;ReadPosRankSum=-0.437;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SH3GLB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000212369 GT:AD:DP:GQ:PL 0/1:8,5:13:99:115,0,294
1 87189896 rs12755853 G T 232.83 PASS AB=0.438;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.953;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.83;MQ0=0;MQRankSum=1.059;QD=14.55;ReadPosRankSum=-1.588;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SH3GLB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000212369 GT:AD:DP:GQ:PL 0/1:7,9:16:99:263,0,205
1 87200729 rs263483 C G 295.56 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.184;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.116;QD=10.56;ReadPosRankSum=-0.209;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SH3GLB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000212369 GT:AD:DP:GQ:PL 0/1:16,12:28:99:326,0,589
1 87207800 rs166415 G T 144.57 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.684;DB;DP=9;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.322;QD=16.06;ReadPosRankSum=1.221;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SH3GLB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000212369 GT:AD:DP:GQ:PL 0/1:4,5:9:99:175,0,100
1 87207872 rs263478 G T 362.19 PASS AB=0.519;AC=1;AF=0.50;AN=2;BaseQRankSum=4.295;DB;DP=28;Dels=0.0;FS=2.269;HRun=0;HaplotypeScore=0.9789;MQ=60.0;MQ0=0;MQRankSum=0.995;QD=12.94;ReadPosRankSum=0.461;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SH3GLB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000212369 GT:AD:DP:GQ:PL 0/1:14,13:28:99:392,0,416
1 87208953 rs7805 T A 735.82 PASS AB=0.489;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.236;DB;DP=45;Dels=0.0;FS=3.108;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.374;QD=16.35;ReadPosRankSum=0.942;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SH3GLB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000482504 GT:AD:DP:GQ:PL 0/1:22,23:45:99:766,0,754
1 87251079 rs566334 A G 960.69 PASS AB=0.459;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.71;DB;DP=74;Dels=0.0;FS=0.897;HRun=0;HaplotypeScore=0.0;MQ=53.03;MQ0=0;MQRankSum=-5.385;QD=12.98;ReadPosRankSum=-1.676;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP4-612B15.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000447415 GT:AD:DP:GQ:PL 0/1:34,40:74:99:991,0,1043
1 87368917 rs573680 A G 542.11 PASS AB=0.558;AC=1;AF=0.50;AN=2;BaseQRankSum=2.042;DB;DP=43;Dels=0.0;FS=1.684;HRun=0;HaplotypeScore=0.0;MQ=59.46;MQ0=0;MQRankSum=0.868;QD=12.61;ReadPosRankSum=-0.428;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RP4-604K5.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331835 GT:AD:DP:GQ:PL 0/1:24,19:43:99:572,0,791
1 87369176 rs571015 C T 838.59 PASS AB=0.422;AC=1;AF=0.50;AN=2;BaseQRankSum=2.264;DB;DP=45;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=0.839;QD=18.64;ReadPosRankSum=0.218;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RP4-604K5.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331835 GT:AD:DP:GQ:PL 0/1:19,26:45:99:869,0,577
1 87458695 rs10873810 G A 381.67 PASS AB=0.55;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.476;DB;DP=40;Dels=0.0;FS=3.223;HRun=0;HaplotypeScore=0.8321;MQ=58.84;MQ0=0;MQRankSum=0.014;QD=9.54;ReadPosRankSum=-1.699;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HS2ST1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370550 GT:AD:DP:GQ:PL 0/1:22,18:40:99:412,0,671
1 87458742 rs61771748 A G 702.17 PASS AB=0.473;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.394;DB;DP=55;Dels=0.0;FS=1.035;HRun=2;HaplotypeScore=0.9789;MQ=59.24;MQ0=0;MQRankSum=0.937;QD=12.77;ReadPosRankSum=-1.665;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HS2ST1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370550 GT:AD:DP:GQ:PL 0/1:26,29:55:99:732,0,820
1 87538962 rs1539610 G A 354.12 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.788;DB;DP=22;Dels=0.0;FS=3.01;HRun=1;HaplotypeScore=0.9159;MQ=60.0;MQ0=0;MQRankSum=-0.591;QD=16.1;ReadPosRankSum=-0.985;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HS2ST1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356813 GT:AD:DP:GQ:PL 0/1:11,11:22:99:384,0,334
1 87549858 rs2798675 A G 804.82 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.99;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HS2ST1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356813 GT:AD:DP:GQ:PL 1/1:0,23:23:63.19:838,63,0
1 87558066 rs66709085 CCACATA C 488.68 PASS AC=2;AF=1.00;AN=2;DB;DP=8;FS=0.0;HRun=0;HaplotypeScore=55.9867;IndelType=D;MQ=36.72;MQ0=0;QD=61.09;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HS2ST1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356813 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:531,24,0
1 87563668 rs1199677 G A 595.73 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.63;MQ0=0;QD=35.04;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HS2ST1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356813 GT:AD:DP:GQ:PL 1/1:0,17:17:45.15:629,45,0
1 87570398 rs1621247 G A 118.73 PASS AB=0.722;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.183;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.493;QD=6.6;ReadPosRankSum=-1.281;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HS2ST1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356813 GT:AD:DP:GQ:PL 0/1:13,5:18:99:149,0,481
1 87599697 rs6576865 G A 52.75 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.37;SNPEFF_AMINO_ACID_CHANGE=T307;SNPEFF_CODON_CHANGE=acG/acA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_87599648_87602334;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HS2ST1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000356813 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
1 87633761 rs10782593 C T 170.14 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.278;DB;DP=12;Dels=0.0;FS=3.09;HRun=0;HaplotypeScore=0.0;MQ=58.05;MQ0=0;MQRankSum=-0.278;QD=14.18;ReadPosRankSum=-1.034;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HS2ST1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370548 GT:AD:DP:GQ:PL 0/1:4,8:12:99:200,0,130
1 89225976 rs430600 T C 2895.78 PASS AC=2;AF=1.00;AN=2;DB;DP=87;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.42;MQ0=0;QD=33.28;SNPEFF_AMINO_ACID_CHANGE=L141;SNPEFF_CODON_CHANGE=Tta/Cta;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_89225905_89226059;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PKN2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000316005 GT:AD:DP:GQ:PL 1/1:1,86:87:99:2929,235,0
1 89236029 rs7541301 T A 717.49 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.5;MQ0=0;QD=23.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PKN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000316005 GT:AD:DP:GQ:PL 1/1:0,31:31:63.19:750,63,0
1 89250152 rs1772795 G A 91.49 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.5;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PKN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000316005 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:124,9,0
1 89271574 rs786906 T C 2221.64 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.155;DB;DP=66;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.367;QD=33.66;ReadPosRankSum=0.0;SNPEFF_AMINO_ACID_CHANGE=S233;SNPEFF_CODON_CHANGE=agT/agC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_89271574_89271700;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PKN2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000544045 GT:AD:DP:GQ:PL 1/1:1,65:66:99:2255,144,0
1 89322982 rs2794318 G A 1923.39 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.6;MQ0=0;QD=38.47;SNPEFF_AMINO_ACID_CHANGE=L242;SNPEFF_CODON_CHANGE=Ctg/Ttg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_89322889_89323170;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GTF2B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000370500 GT:AD:DP:GQ:PL 1/1:0,50:50:99:1956,147,0
1 89353210 . GTTATT G 1301.73 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=5.425;DP=42;FS=4.457;HRun=0;HaplotypeScore=232.3964;IndelType=D;MQ=56.89;MQ0=0;MQRankSum=-1.169;QD=30.99;ReadPosRankSum=-0.223;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GTF2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370500 GT:AD:DP:GQ:PL 0/1:18,24:42:99:1341,0,1562
1 89426260 rs2765527 T C 1728.56 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.56;MQ0=0;QD=33.24;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCBL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370486 GT:AD:DP:GQ:PL 1/1:0,52:52:99:1762,132,0
1 89473175 rs1409150 T C 98.22 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.922;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.05;MQ0=0;MQRankSum=-0.922;QD=12.28;ReadPosRankSum=2.017;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000235878 GT:AD:DP:GQ:PL 0/1:4,4:8:99:128,0,134
1 89474818 rs17433780 A G 369.10 PASS AB=0.567;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.711;DB;DP=30;Dels=0.0;FS=4.439;HRun=0;HaplotypeScore=1.7781;MQ=60.0;MQ0=0;MQRankSum=0.837;QD=12.3;ReadPosRankSum=-1.046;SNPEFF_AMINO_ACID_CHANGE=C459R;SNPEFF_CODON_CHANGE=Tgt/Cgt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_89474630_89474823;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBP3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000370482 GT:AD:DP:GQ:PL 0/1:17,13:30:99:399,0,534
1 89475135 rs10493821 C T 1647.43 PASS AB=0.43;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.61;DB;DP=107;Dels=0.0;FS=6.225;HRun=0;HaplotypeScore=0.9665;MQ=57.0;MQ0=0;MQRankSum=-0.296;QD=15.4;ReadPosRankSum=0.628;SNPEFF_AMINO_ACID_CHANGE=V437M;SNPEFF_CODON_CHANGE=Gtg/Atg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_89475075_89475177;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBP3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000370482 GT:AD:DP:GQ:PL 0/1:46,61:107:99:1677,0,1253
1 89475230 rs4142706 T G 702.59 PASS AB=0.378;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.485;DB;DP=37;Dels=0.0;FS=4.102;HRun=0;HaplotypeScore=0.0;MQ=54.89;MQ0=0;MQRankSum=-0.799;QD=18.99;ReadPosRankSum=0.454;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000235878 GT:AD:DP:GQ:PL 0/1:14,23:37:99:733,0,466
1 89478854 rs4656076 C G 1520.29 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.44;MQ0=0;QD=37.08;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475853 GT:AD:DP:GQ:PL 1/1:0,41:41:99:1553,114,0
1 89479063 rs4656077 G A 2017.83 PASS AB=0.599;AC=1;AF=0.50;AN=2;BaseQRankSum=3.499;DB;DP=168;Dels=0.0;FS=4.708;HRun=0;HaplotypeScore=2.3839;MQ=59.18;MQ0=0;MQRankSum=-0.204;QD=11.94;ReadPosRankSum=0.354;SNPEFF_AMINO_ACID_CHANGE=R225W;SNPEFF_CODON_CHANGE=Cgg/Tgg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_89478868_89479110;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBP3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000235878 GT:AD:DP:GQ:PL 0/1:100,67:168:99:2048,0,2991
1 89479074 rs4656078 C T 1920.31 PASS AB=0.61;AC=1;AF=0.50;AN=2;BaseQRankSum=5.652;DB;DP=159;Dels=0.0;FS=3.991;HRun=1;HaplotypeScore=3.1357;MQ=59.27;MQ0=0;MQRankSum=0.663;QD=12.08;ReadPosRankSum=0.895;SNPEFF_AMINO_ACID_CHANGE=R221Q;SNPEFF_CODON_CHANGE=cGa/cAa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_89478868_89479110;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBP3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000235878 GT:AD:DP:GQ:PL 0/1:97,62:159:99:1950,0,2745
1 89479758 rs3795543 T C 2567.76 PASS AC=2;AF=1.00;AN=2;DB;DP=84;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9916;MQ=59.51;MQ0=0;QD=30.57;SNPEFF_EFFECT=SPLICE_SITE_DONOR;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBP3;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000370482 GT:AD:DP:GQ:PL 1/1:1,83:84:99:2601,196,0
1 89520329 rs72054220 GAAAAAC G 3320.57 PASS AC=2;AF=1.00;AN=2;DB;DP=54;FS=0.0;HRun=0;HaplotypeScore=387.0369;IndelType=D;MQ=41.07;MQ0=0;QD=50.31;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000459831 GT:AD:DP:GQ:PL 1/1:2,64:54:99:3321,154,0
1 89520574 rs10922554 C A 6609.08 PASS AC=2;AF=1.00;AN=2;DB;DP=179;DS;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.7;MQ0=0;QD=36.92;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000459831 GT:AD:DP:GQ:PL 1/1:0,179:179:99:6609,488,0
1 89520636 rs10922555 G A 2430.70 PASS AC=2;AF=1.00;AN=2;DB;DP=71;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.49;MQ0=2;QD=34.24;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000459831 GT:AD:DP:GQ:PL 1/1:1,70:71:99:2464,190,0
1 89520643 rs10922556 C T 2100.79 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=53.19;MQ0=5;QD=31.83;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000459831 GT:AD:DP:GQ:PL 1/1:4,62:66:99:2134,163,0
1 89522512 rs4376712 C T 2199.59 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=59.6;MQ0=0;QD=37.92;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000459831 GT:AD:DP:GQ:PL 1/1:0,58:58:99:2233,163,0
1 89522646 rs1048425 G C 2663.56 PASS AC=2;AF=1.00;AN=2;DB;DP=76;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.7863;MQ=59.05;MQ0=0;QD=35.05;SNPEFF_AMINO_ACID_CHANGE=T312S;SNPEFF_CODON_CHANGE=aCc/aGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_89522537_89522817;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBP1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000542693 GT:AD:DP:GQ:PL 1/1:0,75:76:99:2697,208,0
1 89524068 rs1328225 T C 839.71 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.51;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469194 GT:AD:DP:GQ:PL 1/1:0,23:23:66.19:873,66,0
1 89524657 rs17130717 C G 975.27 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.651;DB;DP=72;Dels=0.0;FS=5.455;HRun=0;HaplotypeScore=0.0;MQ=58.71;MQ0=0;MQRankSum=0.259;QD=13.55;ReadPosRankSum=-0.328;SNPEFF_AMINO_ACID_CHANGE=E129D;SNPEFF_CODON_CHANGE=gaG/gaC;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_89524524_89524726;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBP1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000542693 GT:AD:DP:GQ:PL 0/1:36,36:72:99:1005,0,1139
1 89525679 rs1328227 A G 498.38 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.23;MQ0=0;QD=29.32;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469194 GT:AD:DP:GQ:PL 1/1:0,17:17:48.11:531,48,0
1 89574026 rs1329119 G A 897.30 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.89;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=GBP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463660 GT:AD:DP:GQ:PL 1/1:0,25:25:69.23:930,69,0
1 89575677 rs2026043 T C 199.28 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.82;MQ0=0;QD=33.21;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=GBP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463660 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:232,18,0
1 89579941 rs2230338 T C 1046.87 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.84;SNPEFF_AMINO_ACID_CHANGE=S303G;SNPEFF_CODON_CHANGE=Agc/Ggc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_89579699_89579979;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=GBP2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000370466 GT:AD:DP:GQ:PL 1/1:0,38:38:84.26:1080,84,0
1 89582474 rs2297024 A T 116.24 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=7;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.25;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=GBP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370466 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:149,12,0
1 89582690 rs1803632 G C 1385.80 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=59.05;MQ0=0;QD=31.5;SNPEFF_AMINO_ACID_CHANGE=P285A;SNPEFF_CODON_CHANGE=Cca/Gca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_89582675_89582917;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=GBP2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000370466 GT:AD:DP:GQ:PL 1/1:0,44:44:99:1419,105,0
1 89583544 rs2209956 T C 209.42 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.66;MQ0=0;QD=20.94;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=GBP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370466 GT:AD:DP:GQ:PL 1/1:1,9:10:21.06:242,21,0
1 89597755 rs942442 T C 885.29 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.33;MQ0=0;QD=31.62;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=GBP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464839 GT:AD:DP:GQ:PL 1/1:0,28:28:72.23:918,72,0
1 89598214 rs942441 G T 513.92 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.12;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBP7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294671 GT:AD:DP:GQ:PL 1/1:0,16:16:42.14:547,42,0
1 89599037 rs72728707 A G 468.75 PASS AB=0.792;AC=1;AF=0.50;AN=2;BaseQRankSum=0.634;DB;DP=106;Dels=0.0;FS=0.928;HRun=0;HaplotypeScore=1.7653;MQ=54.91;MQ0=0;MQRankSum=-7.043;QD=4.42;ReadPosRankSum=4.744;SNPEFF_AMINO_ACID_CHANGE=S522;SNPEFF_CODON_CHANGE=agT/agC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_89598941_89599134;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBP7;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000294671 GT:AD:DP:GQ:PL 0/1:84,22:106:99:499,0,2771
1 89599070 rs151091316 T C 458.28 PASS AB=0.78;AC=1;AF=0.50;AN=2;BaseQRankSum=0.285;DB;DP=101;Dels=0.0;FS=7.262;HRun=0;HaplotypeScore=0.0;MQ=54.64;MQ0=0;MQRankSum=-6.766;QD=4.54;ReadPosRankSum=-0.066;SNPEFF_AMINO_ACID_CHANGE=E511;SNPEFF_CODON_CHANGE=gaA/gaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_89598941_89599134;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBP7;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000294671 GT:AD:DP:GQ:PL 0/1:78,22:101:99:488,0,2711
1 89599084 rs79037912 G C 214.37 PASS AB=0.835;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.539;DB;DP=86;Dels=0.0;FS=2.853;HRun=0;HaplotypeScore=0.0;MQ=55.26;MQ0=0;MQRankSum=-5.539;QD=2.49;ReadPosRankSum=-2.506;SNPEFF_AMINO_ACID_CHANGE=Q507E;SNPEFF_CODON_CHANGE=Caa/Gaa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_89598941_89599134;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBP7;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000294671 GT:AD:DP:GQ:PL 0/1:71,14:86:99:244,0,2507
1 89607479 rs6666846 G T 231.07 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.01;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBP7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294671 GT:AD:DP:GQ:PL 1/1:0,7:7:21.05:264,21,0
1 89607486 rs6658235 T C 178.61 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBP7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294671 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:211,15,0
1 89614879 rs622861 T C 336.66 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.67;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBP7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294671 GT:AD:DP:GQ:PL 1/1:0,10:10:27.09:370,27,0
1 89615702 rs619178 A G 53.83 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.92;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBP7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294671 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:85,6,0
1 89615979 rs586609 C T 1585.11 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.667;DB;DP=53;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.536;QD=29.91;ReadPosRankSum=0.033;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBP7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294671 GT:AD:DP:GQ:PL 1/1:1,52:53:99:1618,103,0
1 89618471 . AG A 176.84 PASS AB=0.833;AC=1;AF=0.50;AN=2;BaseQRankSum=2.131;DP=35;FS=4.43;HRun=1;HaplotypeScore=249.1001;IndelType=D;MQ=54.63;MQ0=0;MQRankSum=-1.111;QD=5.05;ReadPosRankSum=-1.366;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBP7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294671 GT:AD:DP:GQ:PL 0/1:28,7:35:99:216,0,318
1 89618472 rs141790475 GAA G 200.92 PASS AB=0.756;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.016;DB;DP=34;FS=7.499;HRun=16;HaplotypeScore=257.8541;IndelType=D;MQ=55.06;MQ0=0;MQRankSum=1.581;QD=5.91;ReadPosRankSum=-0.403;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBP7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294671 GT:AD:DP:GQ:PL 0/1:23,8:34:69.35:240,0,69
1 89637578 rs676913 G A 3952.92 PASS AC=2;AF=1.00;AN=2;DB;DP=122;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.81;MQ0=0;QD=32.4;SNPEFF_AMINO_ACID_CHANGE=T14I;SNPEFF_CODON_CHANGE=aCt/aTt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_89637429_89637637;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBP7;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000294671 GT:AD:DP:GQ:PL 1/1:0,122:122:99:3953,286,0
1 89650850 rs623134 A T 527.76 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.7;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471938 GT:AD:DP:GQ:PL 1/1:0,14:14:42.13:561,42,0
1 89652078 rs608339 A T 1029.13 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=29.48;MQ0=0;QD=22.37;SNPEFF_AMINO_ACID_CHANGE=L549M;SNPEFF_CODON_CHANGE=Ttg/Atg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_89652016_89652209;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBP4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000355754 GT:AD:DP:GQ:PL 1/1:0,46:46:96.23:1062,96,0
1 89652094 rs1142887 G A 824.51 MQFilter40;SnpCluster AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=27.4;MQ0=0;QD=21.7;SNPEFF_AMINO_ACID_CHANGE=A543;SNPEFF_CODON_CHANGE=gcC/gcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_89652016_89652209;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBP4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000355754 GT:AD:DP:GQ:PL 1/1:0,38:38:78.19:858,78,0
1 89652097 rs1142886 C T 822.62 MQFilter40;SnpCluster AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=27.4;MQ0=0;QD=21.65;SNPEFF_AMINO_ACID_CHANGE=M542I;SNPEFF_CODON_CHANGE=atG/atA;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_89652016_89652209;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBP4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000355754 GT:AD:DP:GQ:PL 1/1:0,38:38:78.19:856,78,0
1 89652102 rs655260 A T 724.20 MQFilter40;SnpCluster AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=29.67;MQ0=0;QD=18.57;SNPEFF_AMINO_ACID_CHANGE=Y541N;SNPEFF_CODON_CHANGE=Tac/Aac;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_89652016_89652209;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBP4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000355754 GT:AD:DP:GQ:PL 1/1:0,39:39:69.16:757,69,0
1 89655681 rs75815237 C T 371.88 PASS AB=0.611;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.061;DB;DP=36;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.455;QD=10.33;ReadPosRankSum=0.286;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355754 GT:AD:DP:GQ:PL 0/1:22,14:36:99:402,0,726
1 89661228 rs650448 T G 332.17 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.22;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355754 GT:AD:DP:GQ:PL 1/1:0,10:10:27.09:365,27,0
1 89664276 rs493470 T C 212.17 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.31;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355754 GT:AD:DP:GQ:PL 1/1:0,7:7:18.06:245,18,0
1 89726592 rs535351 G A 414.01 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.64;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GBP5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443807 GT:AD:DP:GQ:PL 1/1:0,11:11:33.11:447,33,0
1 89727870 rs76346754 A T 931.85 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.815;DB;DP=62;Dels=0.0;FS=2.725;HRun=0;HaplotypeScore=0.734;MQ=59.63;MQ0=0;MQRankSum=0.483;QD=15.03;ReadPosRankSum=-0.974;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GBP5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443807 GT:AD:DP:GQ:PL 0/1:31,31:62:99:962,0,1073
1 89728147 . T C 207.31 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.892;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.109;QD=14.81;ReadPosRankSum=1.222;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GBP5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443807 GT:AD:DP:GQ:PL 0/1:6,8:14:99:237,0,198
1 89730723 rs9628688 C T 264.98 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=3.165;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.386;QD=18.93;ReadPosRankSum=0.386;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GBP5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343435 GT:AD:DP:GQ:PL 0/1:6,8:14:99:295,0,143
1 89731959 rs12729209 G A 132.14 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.667;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.533;QD=9.44;ReadPosRankSum=0.8;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GBP5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343435 GT:AD:DP:GQ:PL 0/1:9,5:14:99:162,0,294
1 89732237 rs61729628 G A 960.83 PASS AB=0.536;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.338;DB;DP=69;Dels=0.0;FS=4.853;HRun=0;HaplotypeScore=1.5226;MQ=59.73;MQ0=0;MQRankSum=2.353;QD=13.93;ReadPosRankSum=1.665;SNPEFF_AMINO_ACID_CHANGE=P220;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_89732029_89732271;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GBP5;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000343435 GT:AD:DP:GQ:PL 0/1:37,32:69:99:991,0,1142
1 89733273 rs6690597 T C 99.59 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=0.212;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.212;QD=7.66;ReadPosRankSum=-0.978;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GBP5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343435 GT:AD:DP:GQ:PL 0/1:8,5:13:99:130,0,294
1 89845926 rs67367078 GT G 1358.66 PASS AC=2;AF=1.00;AN=2;DB;DP=54;FS=0.0;HRun=9;HaplotypeScore=134.9363;IndelType=D;MQ=60.0;MQ0=0;QD=25.16;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBP6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370456 GT:AD:DP:GQ:PL 1/1:3,51:54:99:1401,153,0
1 89846152 rs4582772 C T 595.82 PASS AB=0.566;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.899;DB;DP=53;Dels=0.0;FS=8.511;HRun=0;HaplotypeScore=1.8666;MQ=60.0;MQ0=0;MQRankSum=0.539;QD=11.24;ReadPosRankSum=-0.123;SNPEFF_AMINO_ACID_CHANGE=T148I;SNPEFF_CODON_CHANGE=aCc/aTc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_89845945_89846190;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBP6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000535065 GT:AD:DP:GQ:PL 0/1:30,23:53:99:626,0,849
1 89847153 rs1001847 G A 145.14 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=2.793;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.2;MQ0=0;MQRankSum=0.38;QD=11.16;ReadPosRankSum=0.689;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBP6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370456 GT:AD:DP:GQ:PL 0/1:8,5:13:99:175,0,170
1 89847372 rs4658359 G T 1836.85 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.05;MQ0=0;QD=37.49;SNPEFF_AMINO_ACID_CHANGE=A201S;SNPEFF_CODON_CHANGE=Gct/Tct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_89847253_89847533;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBP6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000535065 GT:AD:DP:GQ:PL 1/1:0,49:49:99:1870,141,0
1 89847411 rs4658360 C T 1929.37 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.5784;MQ=59.6;MQ0=0;QD=33.26;SNPEFF_AMINO_ACID_CHANGE=L214F;SNPEFF_CODON_CHANGE=Ctc/Ttc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_89847253_89847533;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBP6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000535065 GT:AD:DP:GQ:PL 1/1:0,58:58:99:1962,153,0
1 89847444 rs4658146 A G 1815.85 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=59.57;MQ0=0;QD=33.63;SNPEFF_AMINO_ACID_CHANGE=M225V;SNPEFF_CODON_CHANGE=Atg/Gtg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_89847253_89847533;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBP6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000535065 GT:AD:DP:GQ:PL 1/1:0,54:54:99:1849,144,0
1 89848557 rs10733091 A C 284.66 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.39;MQ0=0;QD=31.63;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBP6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370456 GT:AD:DP:GQ:PL 1/1:0,9:9:24.08:318,24,0
1 89849201 rs928652 C G 2410.43 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.31;MQ0=0;QD=35.98;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBP6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370456 GT:AD:DP:GQ:PL 1/1:0,67:67:99:2443,184,0
1 89849350 rs928653 G A 1071.24 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=59.2;MQ0=0;QD=36.94;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBP6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370456 GT:AD:DP:GQ:PL 1/1:0,29:29:81.26:1104,81,0
1 89849441 rs928654 T G 581.04 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.74;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBP6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370456 GT:AD:DP:GQ:PL 1/1:0,15:15:45.15:614,45,0
1 89849574 rs928655 G A 736.84 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.78;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBP6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370456 GT:AD:DP:GQ:PL 1/1:0,19:19:57.19:770,57,0
1 89849742 rs959460 A T 2330.44 PASS AC=2;AF=1.00;AN=2;DB;DP=70;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.29;SNPEFF_AMINO_ACID_CHANGE=D390V;SNPEFF_CODON_CHANGE=gAt/gTt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_89849652_89849845;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBP6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000535065 GT:AD:DP:GQ:PL 1/1:0,70:70:99:2363,175,0
1 89851100 rs67390517 G GT 212.15 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.134;DB;DP=19;FS=0.0;HRun=14;HaplotypeScore=85.8705;IndelType=I;MQ=56.86;MQ0=0;MQRankSum=-1.47;QD=11.17;ReadPosRankSum=0.134;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBP6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464005 GT:AD:DP:GQ:PL 1/1:9,8:19:17.43:254,17,0
1 89888371 rs6428540 A G 524.07 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.89;MQ0=0;QD=32.75;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GBP1P1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000394662 GT:AD:DP:GQ:PL 1/1:0,16:16:48.10:557,48,0
1 89888530 rs4261099 C T 3096.65 PASS AC=2;AF=1.00;AN=2;DB;DP=98;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9332;MQ=42.62;MQ0=4;QD=31.6;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GBP1P1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000394662 GT:AD:DP:GQ:PL 1/1:2,96:98:99:3130,253,0
1 89888552 rs4282800 T A 3503.43 PASS AC=2;AF=1.00;AN=2;DB;DP=109;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=45.4;MQ0=4;QD=32.14;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GBP1P1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000394662 GT:AD:DP:GQ:PL 1/1:2,107:109:99:3503,280,0
1 89888585 rs4415545 C G 367.06 PASS AC=2;AF=1.00;AN=2;DB;DP=122;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.8667;MQ=46.79;MQ0=4;QD=3.01;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GBP1P1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000394662 GT:AD:DP:GQ:PL 1/1:2,120:122:41.97:400,42,0
1 89888588 rs4506445 G T 286.68 PASS AC=2;AF=1.00;AN=2;DB;DP=123;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7333;MQ=47.4;MQ0=4;QD=2.33;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GBP1P1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000394662 GT:AD:DP:GQ:PL 1/1:2,119:123:35.93:320,36,0
1 90048010 . A G 44.44 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=14.81;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRC8B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000330947 GT:AD:DP:GQ:PL 0/1:1,2:3:32.20:74,0,32
1 90048132 rs2279085 T C 190.31 PASS AB=0.588;AC=1;AF=0.50;AN=2;BaseQRankSum=0.146;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.83;QD=11.19;ReadPosRankSum=1.025;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRC8B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000330947 GT:AD:DP:GQ:PL 0/1:10,7:17:99:220,0,356
1 90049040 rs36084789 A G 1140.41 PASS AB=0.512;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.848;DB;DP=84;Dels=0.0;FS=0.849;HRun=0;HaplotypeScore=1.9995;MQ=59.67;MQ0=0;MQRankSum=0.519;QD=13.58;ReadPosRankSum=0.734;SNPEFF_AMINO_ACID_CHANGE=P277;SNPEFF_CODON_CHANGE=ccA/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_90048184_90050348;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRC8B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000330947 GT:AD:DP:GQ:PL 0/1:43,41:84:99:1170,0,1388
1 90058242 rs34096201 G GT 187.31 PASS AB=0.69;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.342;DB;DP=20;FS=0.0;HRun=13;HaplotypeScore=94.5555;IndelType=I;MQ=55.76;MQ0=0;MQRankSum=-0.146;QD=9.37;ReadPosRankSum=-0.146;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRC8B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000330947 GT:AD:DP:GQ:PL 0/1:11,9:20:91.92:226,0,92
1 90178743 rs474536 A G 2489.29 PASS AC=2;AF=1.00;AN=2;DB;DP=73;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8667;MQ=59.68;MQ0=0;QD=34.1;SNPEFF_AMINO_ACID_CHANGE=D205G;SNPEFF_CODON_CHANGE=gAc/gGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_90178268_90185092;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRC8C;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000370454 GT:AD:DP:GQ:PL 1/1:0,73:73:99:2522,193,0
1 90470915 rs11808927 T A 922 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.88;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF326;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340281 GT:AD:DP:GQ:PL 1/1:0,25:25:72.21:955,72,0
1 90475947 rs12086543 A G 488.67 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.59;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF326;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361911 GT:AD:DP:GQ:PL 1/1:0,13:13:39.12:522,39,0
1 90486412 rs2816881 T G 2351.41 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.66;MQ0=0;QD=34.58;SNPEFF_AMINO_ACID_CHANGE=V206;SNPEFF_CODON_CHANGE=gtT/gtG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_90486351_90486481;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF326;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000455342 GT:AD:DP:GQ:PL 1/1:0,68:68:99:2384,178,0
1 90493026 rs10922744 G A 3313.18 PASS AC=2;AF=1.00;AN=2;DB;DP=101;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;QD=32.8;SNPEFF_AMINO_ACID_CHANGE=E299;SNPEFF_CODON_CHANGE=gaG/gaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_90492913_90493375;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF326;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000455342 GT:AD:DP:GQ:PL 1/1:0,101:101:99:3313,256,0
1 91181968 rs75698317 C T 169.93 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.572;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.39;MQ0=0;MQRankSum=1.067;QD=18.88;ReadPosRankSum=0.572;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BARHL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370445 GT:AD:DP:GQ:PL 0/1:3,6:9:51.84:200,0,52
1 91383589 rs2448020 T G 1027 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.23;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF644;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000337393 GT:AD:DP:GQ:PL 1/1:0,30:30:78.26:1060,78,0
1 91402917 rs76869597 T TA 420.18 PASS AC=2;AF=1.00;AN=2;DB;DP=25;FS=0.0;HRun=11;HaplotypeScore=168.9682;IndelType=I;MQ=56.14;MQ0=0;QD=16.16;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF644;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000498303 GT:AD:DP:GQ:PL 1/1:7,10:25:58.63:462,59,0
1 91408187 rs358693 C A 806.36 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.4;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF644;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000337393 GT:AD:DP:GQ:PL 1/1:0,21:21:63.21:839,63,0
1 91447985 rs358691 C T 848.59 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.9;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF644;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000337393 GT:AD:DP:GQ:PL 1/1:0,23:23:66.22:882,66,0
1 91728053 rs585898 G A 5138.66 PASS AC=2;AF=1.00;AN=2;DB;DP=135;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.06;SNPEFF_AMINO_ACID_CHANGE=A1036;SNPEFF_CODON_CHANGE=gcC/gcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_91728038_91728149;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HFM1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000370424 GT:AD:DP:GQ:PL 1/1:0,135:135:99:5139,376,0
1 91728202 rs555432 T C 693.19 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.6483;MQ=60.0;MQ0=0;QD=28.88;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HFM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294696 GT:AD:DP:GQ:PL 1/1:0,24:24:57.16:726,57,0
1 91731426 rs1822056 T G 161.50 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.3;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HFM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370421 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:194,15,0
1 91739208 rs281964 C T 741.60 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=39.03;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HFM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294696 GT:AD:DP:GQ:PL 1/1:0,19:19:57.19:775,57,0
1 91739414 rs281963 G A 1152.18 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.89;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HFM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294696 GT:AD:DP:GQ:PL 1/1:0,34:34:93.30:1185,93,0
1 91740105 rs176019 T G 70.85 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.62;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HFM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294696 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:103,9,0
1 91779203 rs204304 T C 176.34 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.39;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HFM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000497520 GT:AD:DP:GQ:PL 1/1:0,6:6:18.05:209,18,0
1 91781304 rs281991 T C 518.87 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.64;MQ0=0;QD=28.83;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HFM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000497520 GT:AD:DP:GQ:PL 1/1:0,18:18:51.13:552,51,0
1 91781413 rs281992 T G 1522.66 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9469;MQ=60.0;MQ0=0;QD=33.84;SNPEFF_AMINO_ACID_CHANGE=I1033;SNPEFF_CODON_CHANGE=atA/atC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_91781372_91781529;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HFM1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000370425 GT:AD:DP:GQ:PL 1/1:0,45:45:99:1556,120,0
1 91782117 . TA T 79.60 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=0.742;DP=8;FS=0.0;HRun=12;HaplotypeScore=19.6708;IndelType=D;MQ=60.0;MQ0=0;MQRankSum=0.742;QD=9.95;ReadPosRankSum=-0.742;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HFM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294696 GT:AD:DP:GQ:PL 0/1:2,6:8:9.53:118,0,10
1 91793877 rs281972 T C 129.60 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.4;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HFM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294696 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:162,12,0
1 91794091 rs7541566 G C 449.94 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=1.879;DB;DP=27;Dels=0.0;FS=1.574;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.366;QD=16.66;ReadPosRankSum=0.61;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HFM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294696 GT:AD:DP:GQ:PL 0/1:12,15:27:99:480,0,315
1 91794248 rs281973 G A 1079.19 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.7;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HFM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294696 GT:AD:DP:GQ:PL 1/1:0,33:33:87.25:1112,87,0
1 91813184 rs281936 C T 296.01 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HFM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294696 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:329,24,0
1 91840784 rs282037 T C 332.13 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.39;MQ0=0;QD=36.9;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HFM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481900 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:365,27,0
1 91841301 rs282036 T C 2530.96 PASS AC=2;AF=1.00;AN=2;DB;DP=70;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.16;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HFM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000448819 GT:AD:DP:GQ:PL 1/1:0,70:70:99:2564,190,0
1 91846374 rs282033 C A 642.18 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.68;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HFM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427444 GT:AD:DP:GQ:PL 1/1:0,18:18:54.14:675,54,0
1 91846595 rs11448402 T TA 2797.67 PASS AC=2;AF=1.00;AN=2;DB;DP=65;FS=0.0;HRun=1;HaplotypeScore=175.1657;IndelType=I;MQ=60.79;MQ0=0;QD=43.04;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HFM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427444 GT:AD:DP:GQ:PL 1/1:1,64:65:99:2840,193,0
1 91846654 rs282032 A T 779.89 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.54;MQ0=0;QD=38.99;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HFM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427444 GT:AD:DP:GQ:PL 1/1:0,20:20:60.20:813,60,0
1 91851253 rs282026 T C 1547.62 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.53;MQ0=0;QD=31.58;SNPEFF_AMINO_ACID_CHANGE=Q169;SNPEFF_CODON_CHANGE=caA/caG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_91851171_91851391;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HFM1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000427444 GT:AD:DP:GQ:PL 1/1:0,49:49:99:1581,123,0
1 91859795 rs282009 T C 2112.72 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=60.0;MQ0=0;QD=34.08;SNPEFF_AMINO_ACID_CHANGE=I117V;SNPEFF_CODON_CHANGE=Att/Gtt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_91859650_91859959;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HFM1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000370425 GT:AD:DP:GQ:PL 1/1:0,62:62:99:2146,154,0
1 91967142 rs78219884 G GC 1844.82 PASS AC=2;AF=1.00;AN=2;DB;DP=44;FS=0.0;HRun=1;HaplotypeScore=102.5905;IndelType=I;MQ=61.26;MQ0=0;QD=41.93;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234626 GT:AD:DP:GQ:PL 1/1:0,44:44:99:1887,132,0
1 91973557 rs553606 T G 1916.96 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.49;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234626 GT:AD:DP:GQ:PL 1/1:0,59:59:99:1950,153,0
1 91989572 rs488126 T G 1163.96 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.36;MQ0=0;QD=32.33;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000486509 GT:AD:DP:GQ:PL 1/1:0,36:36:93.30:1197,93,0
1 92107937 rs4658107 C T 673.94 PASS AB=0.525;AC=1;AF=0.50;AN=2;BaseQRankSum=0.721;DB;DP=59;Dels=0.0;FS=2.184;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.281;QD=11.42;ReadPosRankSum=-0.66;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=HSP90B3P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370405 GT:AD:DP:GQ:PL 0/1:31,28:59:99:704,0,1021
1 92108274 rs142096840 T TA 375.61 PASS AB=0.753;AC=1;AF=0.50;AN=2;BaseQRankSum=0.091;DB;DP=61;FS=1.216;HRun=13;HaplotypeScore=271.7547;IndelType=I;MQ=55.43;MQ0=0;MQRankSum=0.274;QD=6.16;ReadPosRankSum=-0.065;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=HSP90B3P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370405 GT:AD:DP:GQ:PL 0/1:39,20:61:99:415,0,282
1 92108899 rs2493202 C T 4763.39 PASS AC=2;AF=1.00;AN=2;DB;DP=140;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.7;MQ0=0;QD=34.02;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=HSP90B3P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370405 GT:AD:DP:GQ:PL 1/1:0,139:140:99:4763,358,0
1 92174260 rs284878 A G 2238.16 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.734;MQ=59.66;MQ0=0;QD=33.41;SNPEFF_AMINO_ACID_CHANGE=T748;SNPEFF_CODON_CHANGE=acT/acC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_92174220_92174340;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TGFBR3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000370399 GT:AD:DP:GQ:PL 1/1:0,67:67:99:2271,166,0
1 92177938 rs1805113 A G 523.21 PASS AB=0.604;AC=1;AF=0.50;AN=2;BaseQRankSum=0.991;DB;DP=53;Dels=0.0;FS=5.993;HRun=2;HaplotypeScore=1.8633;MQ=60.0;MQ0=0;MQRankSum=-0.391;QD=9.87;ReadPosRankSum=-0.7;SNPEFF_AMINO_ACID_CHANGE=F675;SNPEFF_CODON_CHANGE=ttT/ttC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_92177800_92178099;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TGFBR3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000370399 GT:AD:DP:GQ:PL 0/1:32,21:53:99:553,0,1022
1 92185185 rs2279455 T C 34.28 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9832;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=6.86;ReadPosRankSum=1.231;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TGFBR3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000529608 GT:AD:DP:GQ:PL 0/1:3,2:5:64.27:64,0,109
1 92185657 rs1805112 C T 1004.16 PASS AB=0.426;AC=1;AF=0.50;AN=2;BaseQRankSum=4.018;DB;DP=61;Dels=0.0;FS=1.28;HRun=0;HaplotypeScore=0.0;MQ=59.55;MQ0=0;MQRankSum=0.955;QD=16.46;ReadPosRankSum=0.62;SNPEFF_AMINO_ACID_CHANGE=P401;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_92185450_92185784;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TGFBR3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000370399 GT:AD:DP:GQ:PL 0/1:26,35:61:99:1034,0,676
1 92195601 rs10783002 G A 205.43 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.493;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.656;QD=15.8;ReadPosRankSum=1.369;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TGFBR3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000212355 GT:AD:DP:GQ:PL 0/1:6,7:13:99:235,0,212
1 92195746 rs10783003 C T 51.22 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TGFBR3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000212355 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:82,6,0
1 92200111 rs2306886 G A 87.83 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.96;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TGFBR3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000212355 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:120,9,0
1 92200593 rs11165376 A G 749.85 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.03;MQ0=0;QD=31.24;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TGFBR3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000212355 GT:AD:DP:GQ:PL 1/1:0,24:24:60.19:783,60,0
1 92200627 rs10874913 T C 505.72 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.63;MQ0=0;QD=29.75;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TGFBR3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000212355 GT:AD:DP:GQ:PL 1/1:0,17:17:48.11:539,48,0
1 92200634 rs11165377 C T 148.65 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.991;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.62;MQ0=0;MQRankSum=0.533;QD=10.62;ReadPosRankSum=0.696;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TGFBR3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000212355 GT:AD:DP:GQ:PL 0/1:6,8:14:99:179,0,174
1 92200753 rs12069138 G T 96.26 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.06;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TGFBR3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000212355 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:128,9,0
1 92200782 rs12069176 G A 52.28 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TGFBR3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000212355 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
1 92223976 rs284176 A G 504.76 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.55;MQ0=0;QD=31.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TGFBR3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000212355 GT:AD:DP:GQ:PL 1/1:0,16:16:45.13:538,45,0
1 92262874 rs58760640 T C 1267.89 PASS AB=0.623;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.536;DB;DP=130;Dels=0.0;FS=1.466;HRun=2;HaplotypeScore=2.6232;MQ=59.65;MQ0=0;MQRankSum=-1.198;QD=9.75;ReadPosRankSum=-0.111;SNPEFF_AMINO_ACID_CHANGE=A72;SNPEFF_CODON_CHANGE=gcA/gcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_92262844_92263028;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TGFBR3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000212355 GT:AD:DP:GQ:PL 0/1:81,49:130:99:1298,0,2682
1 92428495 rs10783071 C A 2371.54 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.66;MQ0=0;QD=34.88;SNPEFF_AMINO_ACID_CHANGE=Q62K;SNPEFF_CODON_CHANGE=Cag/Aag;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_92428275_92428503;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BRDT;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000362005 GT:AD:DP:GQ:PL 1/1:0,68:68:99:2405,178,0
1 92446001 rs11165910 C T 47.20 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=15.73;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BRDT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000423434 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:78,6,0
1 92446112 rs11165911 T C 978.07 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.03;MQ0=0;QD=34.93;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BRDT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000423434 GT:AD:DP:GQ:PL 1/1:0,28:28:78.25:1011,78,0
1 92446398 rs2303967 T A 2186.33 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.93;MQ0=0;QD=33.64;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BRDT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000423434 GT:AD:DP:GQ:PL 1/1:0,65:65:99:2219,172,0
1 92447004 rs10875104 A G 405.37 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.05;MQ0=0;QD=33.78;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BRDT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426141 GT:AD:DP:GQ:PL 1/1:0,12:12:33.10:438,33,0
1 92457843 rs10747493 C T 752.06 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.87;MQ0=0;QD=34.18;SNPEFF_AMINO_ACID_CHANGE=P623L;SNPEFF_CODON_CHANGE=cCg/cTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_92457821_92457871;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BRDT;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000370389 GT:AD:DP:GQ:PL 1/1:0,22:22:57.19:785,57,0
1 92467439 rs2303968 T C 55.76 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.59;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BRDT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000362005 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:87,6,0
1 92508300 . AG A 98.03 PASS AB=0.735;AC=1;AF=0.50;AN=2;BaseQRankSum=1.102;DP=25;FS=0.0;HRun=1;HaplotypeScore=218.7104;IndelType=D;MQ=53.62;MQ0=0;MQRankSum=0.462;QD=3.92;ReadPosRankSum=2.381;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPHX4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370383 GT:AD:DP:GQ:PL 0/1:16,9:25:99:137,0,141
1 92568263 rs527412 A G 727.57 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.98;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BTBD8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342818 GT:AD:DP:GQ:PL 1/1:0,26:26:60.18:761,60,0
1 92646021 rs1483022 G A 389.12 PASS AB=0.653;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.536;DB;DP=49;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=3.3542;MQ=60.0;MQ0=0;MQRankSum=-0.431;QD=7.94;ReadPosRankSum=-0.536;SNPEFF_AMINO_ACID_CHANGE=K489;SNPEFF_CODON_CHANGE=aaG/aaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_92645822_92648152;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA1107;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000370378 GT:AD:DP:GQ:PL 0/1:32,17:49:99:419,0,1111
1 92647223 rs560389 A G 2251.95 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.92;SNPEFF_AMINO_ACID_CHANGE=N890S;SNPEFF_CODON_CHANGE=aAt/aGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_92645822_92648152;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA1107;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000370378 GT:AD:DP:GQ:PL 1/1:0,61:61:99:2285,172,0
1 92647532 rs565156 C A 3106.01 PASS AC=2;AF=1.00;AN=2;DB;DP=83;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.72;MQ0=0;QD=37.42;SNPEFF_AMINO_ACID_CHANGE=T1048N;SNPEFF_CODON_CHANGE=aCt/aAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_92645822_92648152;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA1107;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000409154 GT:AD:DP:GQ:PL 1/1:0,83:83:99:3139,235,0
1 92647861 rs566576 G A 861.48 PASS AB=0.536;AC=1;AF=0.50;AN=2;BaseQRankSum=3.207;DB;DP=69;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9159;MQ=59.67;MQ0=0;MQRankSum=-0.812;QD=12.49;ReadPosRankSum=0.74;SNPEFF_AMINO_ACID_CHANGE=V1103I;SNPEFF_CODON_CHANGE=Gtc/Atc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_92645822_92648152;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA1107;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000370378 GT:AD:DP:GQ:PL 0/1:37,32:69:99:891,0,1082
1 92649292 rs570368 A T 911.65 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=52.06;MQ0=0;QD=36.47;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA1107;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370378 GT:AD:DP:GQ:PL 1/1:0,25:25:75.22:945,75,0
1 92649312 rs72423767 G GT 281.13 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.567;DB;DP=32;FS=4.337;HRun=15;HaplotypeScore=294.567;IndelType=I;MQ=49.0;MQ0=0;MQRankSum=-0.567;QD=8.52;ReadPosRankSum=-2.079;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA1107;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370378 GT:AD:DP:GQ:PL 1/1:15,11:32:22.51:323,23,0
1 92649335 rs569593 A G 926.37 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.4892;MQ=54.74;MQ0=0;QD=19.71;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA1107;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370378 GT:AD:DP:GQ:PL 1/1:1,41:47:78.23:959,78,0
1 92709689 rs10676893 T TAC 416.82 PASS AB=0.71;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.94;DB;DP=22;FS=0.0;HRun=0;HaplotypeScore=54.4026;IndelType=I;MQ=60.0;MQ0=0;MQRankSum=-0.668;QD=18.95;ReadPosRankSum=1.669;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GLMN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370360 GT:AD:DP:GQ:PL 0/1:13,9:22:99:456,0,531
1 92711067 rs3131827 A T 420.74 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.734;DB;DP=35;Dels=0.0;FS=1.725;HRun=1;HaplotypeScore=2.5916;MQ=59.34;MQ0=0;MQRankSum=-0.555;QD=12.02;ReadPosRankSum=1.491;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GLMN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370360 GT:AD:DP:GQ:PL 0/1:20,15:35:99:451,0,660
1 92711972 rs2046620 C G 309.71 PASS AB=0.524;AC=1;AF=0.50;AN=2;BaseQRankSum=0.106;DB;DP=21;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.89;MQ0=0;MQRankSum=0.106;QD=14.75;ReadPosRankSum=0.599;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf146;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370373 GT:AD:DP:GQ:PL 0/1:11,10:21:99:340,0,351
1 92712266 rs974924 C T 438.08 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.29;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf146;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370373 GT:AD:DP:GQ:PL 1/1:0,14:14:36.11:471,36,0
1 92712598 rs5776143 GAA G 1174.04 PASS AB=0.713;AC=1;AF=0.50;AN=2;BaseQRankSum=6.195;DB;DP=82;FS=6.647;HRun=4;HaplotypeScore=282.5882;IndelType=D;MQ=59.69;MQ0=0;MQRankSum=-0.245;QD=14.32;ReadPosRankSum=0.062;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf146;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370373 GT:AD:DP:GQ:PL 0/1:49,33:82:99:1213,0,2405
1 92729446 rs3103176 C T 164.41 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.813;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9736;MQ=58.05;MQ0=0;MQRankSum=-0.259;QD=13.7;ReadPosRankSum=0.467;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GLMN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370360 GT:AD:DP:GQ:PL 0/1:6,6:12:99:194,0,173
1 92735273 rs61758979 A T 432.67 PASS AB=0.591;AC=1;AF=0.50;AN=2;BaseQRankSum=1.253;DB;DP=45;Dels=0.0;FS=2.527;HRun=1;HaplotypeScore=1.5317;MQ=58.96;MQ0=0;MQRankSum=-0.656;QD=9.61;ReadPosRankSum=0.442;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GLMN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370360 GT:AD:DP:GQ:PL 0/1:26,18:45:99:463,0,883
1 92735359 rs1487540 T C 244.69 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.165;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.73;MQ0=0;MQRankSum=-0.165;QD=11.12;ReadPosRankSum=-0.033;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GLMN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370360 GT:AD:DP:GQ:PL 0/1:12,10:22:99:275,0,411
1 92755943 rs3103178 G A 292.50 PASS AB=0.357;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.0;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.8;QD=20.89;ReadPosRankSum=0.267;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GLMN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370360 GT:AD:DP:GQ:PL 0/1:5,9:14:99:322,0,168
1 92765848 rs1542685 A T 447.27 PASS AB=0.517;AC=1;AF=0.50;AN=2;BaseQRankSum=1.375;DB;DP=29;Dels=0.0;FS=1.862;HRun=2;HaplotypeScore=0.0;MQ=59.2;MQ0=0;MQRankSum=-1.026;QD=15.42;ReadPosRankSum=-0.24;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RPAP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370343 GT:AD:DP:GQ:PL 0/1:15,14:29:99:477,0,508
1 92767292 rs6604089 A T 183.41 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.746;DB;DP=21;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.315;QD=8.73;ReadPosRankSum=0.036;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RPAP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370343 GT:AD:DP:GQ:PL 0/1:12,9:21:99:213,0,435
1 92852504 rs10747411 A G 246.74 PASS AB=0.357;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.867;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=58.66;MQ0=0;MQRankSum=-1.733;QD=17.62;ReadPosRankSum=-1.067;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RPAP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370343 GT:AD:DP:GQ:PL 0/1:5,9:14:99:277,0,150
1 92946479 rs11164605 G A 193.73 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.29;SNPEFF_AMINO_ACID_CHANGE=C155;SNPEFF_CODON_CHANGE=tgC/tgT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_92946158_92946645;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GFI1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000294702 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:227,18,0
1 92979354 rs6603979 A G 2689.69 PASS AC=2;AF=1.00;AN=2;DB;DP=73;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=59.43;MQ0=0;QD=36.85;SNPEFF_AMINO_ACID_CHANGE=G764;SNPEFF_CODON_CHANGE=ggT/ggC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_92974253_92979527;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EVI5;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000370331 GT:AD:DP:GQ:PL 1/1:0,73:73:99:2723,202,0
1 93029453 rs6656432 A G 135.49 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EVI5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370331 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:168,12,0
1 93029479 rs68039687 A T 36.42 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=9.11;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EVI5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370331 GT:AD:DP:GQ:PL 0/1:1,3:4:32.20:66,0,32
1 93071048 rs2050597 G T 648.47 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.15;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EVI5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468580 GT:AD:DP:GQ:PL 1/1:0,17:17:51.17:681,51,0
1 93073228 rs11808092 C A 586.93 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.569;DB;DP=28;Dels=0.0;FS=4.262;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.952;QD=20.96;ReadPosRankSum=-0.283;SNPEFF_AMINO_ACID_CHANGE=Q612H;SNPEFF_CODON_CHANGE=caG/caT;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_93073138_93073284;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EVI5;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000370331 GT:AD:DP:GQ:PL 0/1:9,18:28:99:617,0,264
1 93089823 rs7514716 T C 2621.55 PASS AC=2;AF=1.00;AN=2;DB;DP=78;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.76;MQ0=0;QD=33.61;SNPEFF_AMINO_ACID_CHANGE=Q262;SNPEFF_CODON_CHANGE=caA/caG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_93089733_93089891;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EVI5;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000338689 GT:AD:DP:GQ:PL 1/1:0,78:78:99:2655,202,0
1 93160002 rs34202284 G A 217.20 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.654;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.6385;MQ=60.0;MQ0=0;MQRankSum=-0.299;QD=14.48;ReadPosRankSum=-1.027;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EVI5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000338689 GT:AD:DP:GQ:PL 0/1:7,7:15:99:247,0,257
1 93160902 rs2391199 T C 2716.84 PASS AC=2;AF=1.00;AN=2;DB;DP=77;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.28;SNPEFF_AMINO_ACID_CHANGE=I336V;SNPEFF_CODON_CHANGE=Att/Gtt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_93160867_93161010;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EVI5;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000370331 GT:AD:DP:GQ:PL 1/1:0,77:77:99:2750,202,0
1 93163385 rs7418336 A G 739.46 PASS AB=0.289;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.8;DB;DP=38;Dels=0.0;FS=1.868;HRun=0;HaplotypeScore=0.9578;MQ=60.0;MQ0=0;MQRankSum=-0.676;QD=19.46;ReadPosRankSum=-0.386;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EVI5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000338689 GT:AD:DP:GQ:PL 0/1:11,27:38:99:769,0,316
1 93163633 rs1017008 C T 1296.16 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.11;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EVI5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000338689 GT:AD:DP:GQ:PL 1/1:0,38:38:99:1329,102,0
1 93167610 rs10218567 C T 254.07 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.28;MQ0=0;QD=36.3;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EVI5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474806 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:287,21,0
1 93167854 rs10218670 A G 296.60 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.96;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EVI5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474806 GT:AD:DP:GQ:PL 1/1:0,9:9:24.08:330,24,0
1 93306317 rs10874744 G A 304.26 PASS AB=0.48;AC=1;AF=0.50;AN=2;BaseQRankSum=0.517;DB;DP=26;Dels=0.0;FS=6.239;HRun=2;HaplotypeScore=0.8321;MQ=59.11;MQ0=0;MQRankSum=-1.115;QD=11.7;ReadPosRankSum=1.605;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM69A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370310 GT:AD:DP:GQ:PL 0/1:12,13:26:99:334,0,395
1 93308798 rs2244588 G A 49.99 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM69A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401027 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
1 93308853 rs2244496 C A 385.03 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.87;MQ0=0;QD=35.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM69A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401027 GT:AD:DP:GQ:PL 1/1:0,11:11:33.09:418,33,0
1 93312142 rs12746956 A G 700.16 PASS AB=0.542;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.79;DB;DP=59;Dels=0.0;FS=4.275;HRun=0;HaplotypeScore=0.0;MQ=59.79;MQ0=0;MQRankSum=1.227;QD=11.87;ReadPosRankSum=-0.633;SNPEFF_EFFECT=SPLICE_SITE_ACCEPTOR;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM69A;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000401027 GT:AD:DP:GQ:PL 0/1:32,27:59:99:730,0,952
1 93312192 rs71094209 C CT 222.75 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=2.317;DB;DP=30;FS=3.388;HRun=11;HaplotypeScore=114.6692;IndelType=I;MQ=59.59;MQ0=0;MQRankSum=0.348;QD=7.42;ReadPosRankSum=1.275;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RPL5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370321 GT:AD:DP:GQ:PL 0/1:20,10:30:99:262,0,230
1 93312592 rs12062315 C T 100.97 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.62;MQ0=0;MQRankSum=0.55;QD=14.42;ReadPosRankSum=1.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM69A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370310 GT:AD:DP:GQ:PL 0/1:3,4:7:96.29:131,0,96
1 93426866 rs945629 T C 111.27 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=53.73;MQ0=0;QD=15.9;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM69A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370310 GT:AD:DP:GQ:PL 1/1:0,7:7:12.03:144,12,0
1 93426869 rs1415069 G C 105.75 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=53.73;MQ0=0;QD=15.11;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM69A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370310 GT:AD:DP:GQ:PL 1/1:0,7:7:12.03:138,12,0
1 93545157 rs2815419 G A 1143.12 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.36;MQ0=0;QD=31.75;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370298 GT:AD:DP:GQ:PL 1/1:0,36:36:90.29:1176,90,0
1 93576302 rs494745 T G 179.55 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370298 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:212,15,0
1 93580402 rs11164874 T A 215.47 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.53;DB;DP=15;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.9332;MQ=60.0;MQ0=0;MQRankSum=-0.177;QD=14.36;ReadPosRankSum=-0.295;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370298 GT:AD:DP:GQ:PL 0/1:6,9:15:99:245,0,209
1 93580581 rs2815427 G C 1025.50 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.36;SNPEFF_AMINO_ACID_CHANGE=C140S;SNPEFF_CODON_CHANGE=tGc/tCc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_93580545_93580645;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTF2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000370298 GT:AD:DP:GQ:PL 1/1:0,29:29:78.25:1059,78,0
1 93580879 rs2295424 T C 33.40 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=1.495;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.922;QD=4.77;ReadPosRankSum=0.922;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370298 GT:AD:DP:GQ:PL 0/1:5,2:7:63.39:63,0,184
1 93580992 rs566843 C T 222.88 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=1.733;DB;DP=18;Dels=0.0;FS=5.035;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.644;QD=12.38;ReadPosRankSum=1.111;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370298 GT:AD:DP:GQ:PL 0/1:10,8:18:99:253,0,290
1 93581024 rs2295423 T C 280.80 PASS AB=0.476;AC=1;AF=0.50;AN=2;BaseQRankSum=1.519;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.988;QD=13.37;ReadPosRankSum=-1.519;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370298 GT:AD:DP:GQ:PL 0/1:10,11:21:99:311,0,304
1 93584870 rs74464389 C CT 86.50 PASS AB=0.684;AC=1;AF=0.50;AN=2;BaseQRankSum=0.466;DB;DP=13;FS=3.424;HRun=14;HaplotypeScore=65.3042;IndelType=I;MQ=59.9;MQ0=0;MQRankSum=0.825;QD=6.65;ReadPosRankSum=-0.466;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474314 GT:AD:DP:GQ:PL 0/1:7,6:13:63.35:126,0,63
1 93602194 rs2281524 C T 1630.37 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.23;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000487263 GT:AD:DP:GQ:PL 1/1:0,45:45:99:1663,123,0
1 93620393 rs1060622 G A 1291.26 PASS AB=0.495;AC=1;AF=0.50;AN=2;BaseQRankSum=0.414;DB;DP=97;Dels=0.0;FS=1.688;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.044;QD=13.31;ReadPosRankSum=-1.198;SNPEFF_AMINO_ACID_CHANGE=T124I;SNPEFF_CODON_CHANGE=aCt/aTt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_93619857_93620445;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMED5;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000535517 GT:AD:DP:GQ:PL 0/1:48,49:97:99:1321,0,1507
1 93621483 rs1057257 A G 98.80 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.87;MQ0=0;MQRankSum=1.034;QD=8.98;ReadPosRankSum=0.678;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMED5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370280 GT:AD:DP:GQ:PL 0/1:7,4:11:99:129,0,249
1 93646207 rs2297707 T C 140.21 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.047;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.779;QD=11.68;ReadPosRankSum=-0.259;SNPEFF_AMINO_ACID_CHANGE=L40;SNPEFF_CODON_CHANGE=ctT/ctC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_93645920_93646439;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC18;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000557479 GT:AD:DP:GQ:PL 0/1:6,6:12:99:170,0,209
1 93646418 rs10874763 C T 301.94 PASS AB=0.476;AC=1;AF=0.50;AN=2;BaseQRankSum=0.246;DB;DP=21;Dels=0.0;FS=4.419;HRun=1;HaplotypeScore=0.0;MQ=58.89;MQ0=0;MQRankSum=0.669;QD=14.38;ReadPosRankSum=0.739;SNPEFF_AMINO_ACID_CHANGE=L111F;SNPEFF_CODON_CHANGE=Ctc/Ttc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_93645920_93646439;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC18;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000557479 GT:AD:DP:GQ:PL 0/1:10,11:21:99:332,0,292
1 93648728 rs7535628 T C 52.75 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC18;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334652 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
1 93648816 rs2815409 A G 233.43 PASS AB=0.357;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.267;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=0.533;QD=16.67;ReadPosRankSum=-0.133;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC18;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334652 GT:AD:DP:GQ:PL 0/1:5,9:14:99:263,0,158
1 93649732 rs6682670 A G 357.05 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=1.395;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.182;QD=22.32;ReadPosRankSum=-0.667;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC18;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334652 GT:AD:DP:GQ:PL 0/1:4,12:16:99:387,0,120
1 93658989 rs11164881 C A 92.19 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.73;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC18;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334652 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:124,9,0
1 93659350 rs2815411 A T 543.38 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.555;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=59.42;MQ0=0;MQRankSum=-0.5;QD=13.58;ReadPosRankSum=1.528;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC18;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479653 GT:AD:DP:GQ:PL 0/1:20,20:40:99:573,0,638
1 93672723 rs2815413 A C 520.97 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.718;DB;DP=39;Dels=0.0;FS=6.884;HRun=0;HaplotypeScore=0.734;MQ=59.41;MQ0=0;MQRankSum=1.986;QD=13.36;ReadPosRankSum=0.437;SNPEFF_AMINO_ACID_CHANGE=N125T;SNPEFF_CODON_CHANGE=aAt/aCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_93672664_93672955;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC18;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000338949 GT:AD:DP:GQ:PL 0/1:18,21:39:99:551,0,595
1 93676314 rs555161 A G 142.04 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.447;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.32;QD=6.76;ReadPosRankSum=-0.888;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC18;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334652 GT:AD:DP:GQ:PL 0/1:12,9:21:99:172,0,440
1 93676578 rs797676 A G 104.61 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=2.383;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=10.46;ReadPosRankSum=0.365;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC18;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334652 GT:AD:DP:GQ:PL 0/1:6,4:10:99:135,0,212
1 93683210 rs624131 A G 76.25 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9998;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=15.25;ReadPosRankSum=1.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC18;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334652 GT:AD:DP:GQ:PL 0/1:2,3:5:66.24:106,0,66
1 93683543 rs506556 C G 147.90 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=0.38;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.831;QD=12.32;ReadPosRankSum=0.529;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC18;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334652 GT:AD:DP:GQ:PL 0/1:5,7:12:99:178,0,173
1 93687091 rs797661 G T 237.32 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.736;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.887;QD=11.87;ReadPosRankSum=0.579;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC18;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334652 GT:AD:DP:GQ:PL 0/1:12,8:20:99:267,0,409
1 93691855 rs34227600 GT G 126.83 PASS AB=0.778;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.981;DB;DP=49;FS=1.571;HRun=16;HaplotypeScore=291.5413;IndelType=D;MQ=55.11;MQ0=0;MQRankSum=0.377;QD=2.59;ReadPosRankSum=0.755;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC18;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334652 GT:AD:DP:GQ:PL 0/1:32,9:49:99:166,0,308
1 93691871 . TG T 56.85 QDFilter2 AB=0.918;AC=1;AF=0.50;AN=2;BaseQRankSum=2.698;DP=56;FS=44.89;HRun=1;HaplotypeScore=305.1441;IndelType=D;MQ=56.18;MQ0=0;MQRankSum=-0.665;QD=1.02;ReadPosRankSum=-0.19;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC18;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334652 GT:AD:DP:GQ:PL 0/1:51,5:56:95.88:96,0,767
1 93698222 rs661566 C G 368.85 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=4.742;DB;DP=35;Dels=0.0;FS=3.724;HRun=1;HaplotypeScore=0.0;MQ=59.47;MQ0=0;MQRankSum=0.052;QD=10.54;ReadPosRankSum=-0.787;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC18;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334652 GT:AD:DP:GQ:PL 0/1:20,15:35:99:399,0,592
1 93702119 rs797672 A T 32.07 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=56.16;MQ0=0;MQRankSum=0.358;QD=6.41;ReadPosRankSum=-0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC18;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334652 GT:AD:DP:GQ:PL 0/1:3,2:5:62.06:62,0,105
1 93704793 rs5776176 CT C 383.64 PASS AB=0.648;AC=1;AF=0.50;AN=2;BaseQRankSum=3.078;DB;DP=35;FS=3.724;HRun=9;HaplotypeScore=98.5665;IndelType=D;MQ=60.31;MQ0=0;MQRankSum=1.038;QD=10.96;ReadPosRankSum=-0.2;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC18;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334652 GT:AD:DP:GQ:PL 0/1:16,19:35:99:423,0,386
1 93711782 rs3754186 T A 1068.84 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.04;DB;DP=82;Dels=0.0;FS=1.005;HRun=1;HaplotypeScore=0.9665;MQ=60.0;MQ0=0;MQRankSum=1.085;QD=13.03;ReadPosRankSum=-0.167;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC18;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334652 GT:AD:DP:GQ:PL 0/1:41,41:82:99:1099,0,1316
1 93711998 rs658178 C G 40.30 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.44;MQ0=0;MQRankSum=-0.736;QD=13.43;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC18;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334652 GT:AD:DP:GQ:PL 0/1:1,2:3:30.98:70,0,31
1 93712178 rs668944 C T 30.28 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=10.09;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC18;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334652 GT:AD:DP:GQ:PL 0/1:1,2:3:27.96:60,0,28
1 93712532 rs670650 G A 268.93 PASS AB=0.565;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.651;DB;DP=23;Dels=0.0;FS=3.617;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.155;QD=11.69;ReadPosRankSum=-0.155;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC18;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000455267 GT:AD:DP:GQ:PL 0/1:13,10:23:99:299,0,469
1 93724106 rs10874765 A G 86.82 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.94;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC18;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334652 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:119,9,0
1 93744055 rs10874767 G A 1215.61 PASS AB=0.564;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.017;DB;DP=101;Dels=0.0;FS=2.8;HRun=0;HaplotypeScore=3.0659;MQ=58.94;MQ0=0;MQRankSum=1.086;QD=12.04;ReadPosRankSum=0.675;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC18;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343253 GT:AD:DP:GQ:PL 0/1:57,44:101:99:1246,0,1714
1 93998640 rs34814765 AT A 1846.64 PASS AB=0.688;AC=1;AF=0.50;AN=2;BaseQRankSum=8.2;DB;DP=128;FS=2.496;HRun=2;HaplotypeScore=315.1817;IndelType=D;MQ=59.89;MQ0=0;MQRankSum=0.188;QD=14.43;ReadPosRankSum=1.064;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FNBP1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260506 GT:AD:DP:GQ:PL 0/1:70,58:128:99:1886,0,2591
1 94002233 rs3767967 A G 153.57 PASS AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=25.59;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FNBP1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260506 GT:AD:DP:GQ:PL 0/1:1,5:6:21.26:184,0,21
1 94012287 rs237425 G A 784.37 PASS AB=0.361;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.593;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-2.305;QD=21.79;ReadPosRankSum=-1.581;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FNBP1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260506 GT:AD:DP:GQ:PL 0/1:13,23:36:99:814,0,416
1 94041787 rs25569 G GAC 1503.57 PASS AC=2;AF=1.00;AN=2;DB;DP=30;FS=0.0;HRun=0;HaplotypeScore=74.7256;IndelType=I;MQ=60.72;MQ0=0;QD=50.12;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BCAR3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260502 GT:AD:DP:GQ:PL 1/1:2,27:30:87.30:1546,87,0
1 94054382 rs236319 T C 133.49 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.37;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BCAR3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479503 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:166,12,0
1 94054627 rs2137623 G A 328.08 PASS AB=0.474;AC=1;AF=0.50;AN=2;BaseQRankSum=0.049;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.78;MQ0=0;MQRankSum=-0.732;QD=17.27;ReadPosRankSum=-0.634;SNPEFF_AMINO_ACID_CHANGE=T188I;SNPEFF_CODON_CHANGE=aCc/aTc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_94054534_94054976;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BCAR3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000370247 GT:AD:DP:GQ:PL 0/1:9,10:19:99:358,0,228
1 94312482 rs5776191 T TC 337.75 PASS AC=2;AF=1.00;AN=2;DB;DP=9;FS=0.0;HRun=1;HaplotypeScore=21.8455;IndelType=I;MQ=59.85;MQ0=0;QD=37.53;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BCAR3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370244 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:380,27,0
1 94335194 rs1051394 A T 493.15 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.351;DB;DP=30;Dels=0.0;FS=2.062;HRun=1;HaplotypeScore=2.6532;MQ=59.23;MQ0=0;MQRankSum=-0.066;QD=16.44;ReadPosRankSum=0.199;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNTTIP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359208 GT:AD:DP:GQ:PL 0/1:12,18:30:99:523,0,338
1 94341137 rs2273166 C T 747.97 PASS AB=0.574;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.93;DB;DP=68;Dels=0.0;FS=9.75;HRun=0;HaplotypeScore=0.0;MQ=59.66;MQ0=0;MQRankSum=-0.595;QD=11.0;ReadPosRankSum=1.376;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNTTIP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460191 GT:AD:DP:GQ:PL 0/1:39,29:68:99:778,0,1332
1 94341267 rs2273165 A G 1381.54 PASS AB=0.605;AC=1;AF=0.50;AN=2;BaseQRankSum=4.456;DB;DP=124;Dels=0.0;FS=0.683;HRun=0;HaplotypeScore=3.4516;MQ=59.81;MQ0=0;MQRankSum=0.4;QD=11.14;ReadPosRankSum=-0.411;SNPEFF_AMINO_ACID_CHANGE=F580;SNPEFF_CODON_CHANGE=ttT/ttC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_94341201_94341339;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNTTIP2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000436063 GT:AD:DP:GQ:PL 0/1:75,49:124:99:1412,0,2402
1 94342061 rs41292661 C T 2746.85 PASS AB=0.521;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.605;DB;DP=194;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=3.536;MQ=60.0;MQ0=0;MQRankSum=1.327;QD=14.16;ReadPosRankSum=1.054;SNPEFF_AMINO_ACID_CHANGE=G477E;SNPEFF_CODON_CHANGE=gGa/gAa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_94341824_94343418;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNTTIP2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000436063 GT:AD:DP:GQ:PL 0/1:101,93:194:99:2777,0,3228
1 94342564 rs3747965 C A 1823.50 PASS AB=0.546;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.445;DB;DP=141;Dels=0.0;FS=0.64;HRun=0;HaplotypeScore=1.81;MQ=59.67;MQ0=0;MQRankSum=-0.274;QD=12.93;ReadPosRankSum=-1.165;SNPEFF_AMINO_ACID_CHANGE=E309D;SNPEFF_CODON_CHANGE=gaG/gaT;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_94341824_94343418;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNTTIP2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000436063 GT:AD:DP:GQ:PL 0/1:77,64:141:99:1853,0,2565
1 94343023 rs2391322 A G 1659.62 PASS AB=0.54;AC=1;AF=0.50;AN=2;BaseQRankSum=0.8;DB;DP=126;Dels=0.0;FS=6.269;HRun=2;HaplotypeScore=2.7634;MQ=60.0;MQ0=0;MQRankSum=1.138;QD=13.17;ReadPosRankSum=0.423;SNPEFF_AMINO_ACID_CHANGE=P156;SNPEFF_CODON_CHANGE=ccT/ccC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_94341824_94343418;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNTTIP2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000436063 GT:AD:DP:GQ:PL 0/1:68,58:126:99:1690,0,2209
1 94343233 rs3789457 T C 1564.58 PASS AB=0.496;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.529;DB;DP=125;Dels=0.0;FS=4.482;HRun=0;HaplotypeScore=1.8216;MQ=59.45;MQ0=0;MQRankSum=-0.059;QD=12.52;ReadPosRankSum=-1.216;SNPEFF_AMINO_ACID_CHANGE=E86;SNPEFF_CODON_CHANGE=gaA/gaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_94341824_94343418;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNTTIP2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000436063 GT:AD:DP:GQ:PL 0/1:62,63:125:99:1595,0,1941
1 94344716 rs2235971 C T 434.62 PASS AB=0.481;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.043;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.14;MQ0=0;MQRankSum=-0.752;QD=16.1;ReadPosRankSum=0.558;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNTTIP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460191 GT:AD:DP:GQ:PL 0/1:13,14:27:99:465,0,388
1 94471075 rs1762114 A G 1984.92 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.4538;MQ=59.2;MQ0=0;QD=34.22;SNPEFF_AMINO_ACID_CHANGE=I142;SNPEFF_CODON_CHANGE=atT/atC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_94470997_94471138;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000535881 GT:AD:DP:GQ:PL 1/1:0,58:58:99:2018,150,0
1 94474020 rs1191234 G A 45.13 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.57;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370225 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:76,6,0
1 94476555 rs537831 G A 297.63 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370225 GT:AD:DP:GQ:PL 1/1:0,9:9:27.08:331,27,0
1 94477232 rs565155 T G 51.16 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370225 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
1 94480037 rs2275033 C T 1099.23 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.915;DB;DP=90;Dels=0.0;FS=2.143;HRun=1;HaplotypeScore=3.0534;MQ=59.28;MQ0=0;MQRankSum=-0.322;QD=12.21;ReadPosRankSum=0.798;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470771 GT:AD:DP:GQ:PL 0/1:54,36:90:99:1129,0,1741
1 94481068 rs914958 A G 42.72 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.36;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460514 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:74,6,0
1 94486587 rs4147848 G T 98.57 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.876;DB;DP=9;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.361;QD=10.95;ReadPosRankSum=-0.876;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370225 GT:AD:DP:GQ:PL 0/1:5,4:9:99:129,0,177
1 94487354 rs472908 G A 752.98 PASS AB=0.51;AC=1;AF=0.50;AN=2;BaseQRankSum=3.291;DB;DP=51;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.6651;MQ=59.09;MQ0=0;MQRankSum=1.33;QD=14.76;ReadPosRankSum=1.175;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370225 GT:AD:DP:GQ:PL 0/1:26,25:51:99:783,0,784
1 94495930 rs547806 T C 536.09 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.29;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370225 GT:AD:DP:GQ:PL 1/1:0,14:14:42.14:569,42,0
1 94496253 rs2297671 G A 72.87 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.727;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.21;MQ0=0;MQRankSum=0.727;QD=14.57;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370225 GT:AD:DP:GQ:PL 0/1:1,4:5:30.61:103,0,31
1 94544135 rs4147887 A AC 1517.33 PASS AB=0.703;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.361;DB;DP=123;FS=2.099;HRun=6;HaplotypeScore=383.9214;IndelType=I;MQ=60.14;MQ0=0;MQRankSum=0.855;QD=12.34;ReadPosRankSum=-1.99;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370225 GT:AD:DP:GQ:PL 0/1:71,51:123:99:1556,0,1509
1 94544233 rs4147831 G A 1977.14 PASS AB=0.549;AC=1;AF=0.50;AN=2;BaseQRankSum=2.757;DB;DP=153;Dels=0.0;FS=2.94;HRun=0;HaplotypeScore=0.734;MQ=59.76;MQ0=0;MQRankSum=-0.137;QD=12.92;ReadPosRankSum=-0.022;SNPEFF_AMINO_ACID_CHANGE=H423;SNPEFF_CODON_CHANGE=caC/caT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_94544146_94544262;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000370225 GT:AD:DP:GQ:PL 0/1:84,69:153:99:2007,0,2560
1 94544276 rs4147830 G A 1502.45 PASS AB=0.595;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.064;DB;DP=132;Dels=0.0;FS=6.22;HRun=1;HaplotypeScore=0.5784;MQ=59.73;MQ0=0;MQRankSum=0.339;QD=11.38;ReadPosRankSum=0.463;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370225 GT:AD:DP:GQ:PL 0/1:78,53:132:99:1532,0,2449
1 94544326 rs3215952 GT G 915.49 PASS AB=0.697;AC=1;AF=0.50;AN=2;BaseQRankSum=6.676;DB;DP=69;FS=5.987;HRun=2;HaplotypeScore=257.484;IndelType=D;MQ=59.65;MQ0=0;MQRankSum=1.289;QD=13.27;ReadPosRankSum=-1.374;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370225 GT:AD:DP:GQ:PL 0/1:39,30:69:99:955,0,1534
1 94545160 rs2275035 C T 31.96 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=0.72;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=0.72;QD=4.57;ReadPosRankSum=0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370225 GT:AD:DP:GQ:PL 0/1:5,2:7:61.95:62,0,147
1 94549083 rs574741 T C 313.46 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.112;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9867;MQ=60.0;MQ0=0;MQRankSum=0.064;QD=10.45;ReadPosRankSum=0.783;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370225 GT:AD:DP:GQ:PL 0/1:18,12:30:99:343,0,634
1 94564483 rs6657239 C T 149.42 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=2.367;DB;DP=24;Dels=0.0;FS=2.671;HRun=0;HaplotypeScore=0.0;MQ=59.22;MQ0=0;MQRankSum=0.967;QD=6.23;ReadPosRankSum=2.633;SNPEFF_AMINO_ACID_CHANGE=R212H;SNPEFF_CODON_CHANGE=cGc/cAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_94564350_94564547;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000370225 GT:AD:DP:GQ:PL 0/1:18,6:24:99:179,0,441
1 94568822 rs2297636 T C 507.19 PASS AB=0.452;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.06;DB;DP=31;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.7887;MQ=59.25;MQ0=0;MQRankSum=-0.139;QD=16.36;ReadPosRankSum=-0.099;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370225 GT:AD:DP:GQ:PL 0/1:14,17:31:99:537,0,468
1 94574053 rs11165073 C A 565.72 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;QD=35.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370225 GT:AD:DP:GQ:PL 1/1:0,16:16:45.15:599,45,0
1 94576893 rs2297635 G A 103.89 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=0.55;DB;DP=7;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.937;QD=14.84;ReadPosRankSum=1.754;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370225 GT:AD:DP:GQ:PL 0/1:3,4:7:99:134,0,101
1 94576968 rs2297634 T C 405.54 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.302;DB;DP=16;Dels=0.0;FS=3.59;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.651;QD=25.35;ReadPosRankSum=1.302;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370225 GT:AD:DP:GQ:PL 1/1:1,15:16:5.69:437,6,0
1 94578317 rs7524869 C A 49.99 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370225 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
1 94578548 rs4847281 T C 3321.64 PASS AC=2;AF=1.00;AN=2;DB;DP=98;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.89;SNPEFF_AMINO_ACID_CHANGE=P47;SNPEFF_CODON_CHANGE=ccA/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_94578529_94578622;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000370225 GT:AD:DP:GQ:PL 1/1:0,98:98:99:3322,253,0
1 94639337 rs1330858 A G 2033.67 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.59;MQ0=0;QD=36.32;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ARHGAP29;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000482481 GT:AD:DP:GQ:PL 1/1:0,56:56:99:2067,162,0
1 94639447 rs1999272 C T 4718.32 PASS AC=2;AF=1.00;AN=2;DB;DP=141;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;QD=33.46;SNPEFF_AMINO_ACID_CHANGE=G1255D;SNPEFF_CODON_CHANGE=gGt/gAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_94637307_94640305;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ARHGAP29;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000260526 GT:AD:DP:GQ:PL 1/1:0,141:141:99:4718,346,0
1 94645173 . AAG A 73.76 PASS AB=0.76;AC=1;AF=0.50;AN=2;BaseQRankSum=2.358;DP=19;FS=0.0;HRun=0;HaplotypeScore=226.0825;IndelType=D;MQ=42.66;MQ0=0;MQRankSum=-2.742;QD=3.88;ReadPosRankSum=0.433;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ARHGAP29;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260526 GT:AD:DP:GQ:PL 0/1:13,6:19:89.96:113,0,90
1 94654225 rs1411703 C G 87.98 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=53.44;MQ0=0;QD=29.33;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ARHGAP29;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260526 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:120,9,0
1 94667430 rs74980943 G GA 792.52 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.348;DB;DP=30;FS=0.0;HRun=9;HaplotypeScore=75.1018;IndelType=I;MQ=59.96;MQ0=0;MQRankSum=1.22;QD=26.42;ReadPosRankSum=-0.578;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ARHGAP29;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370217 GT:AD:DP:GQ:PL 1/1:3,27:30:55.16:835,55,0
1 94668046 rs1541099 C T 1125.24 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.32;MQ0=0;QD=33.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ARHGAP29;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260526 GT:AD:DP:GQ:PL 1/1:0,34:34:90.25:1158,90,0
1 94670784 rs10443184 T C 278.15 PASS AB=0.412;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.464;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.9;MQ0=0;MQRankSum=0.537;QD=16.36;ReadPosRankSum=0.342;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ARHGAP29;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260526 GT:AD:DP:GQ:PL 0/1:7,10:17:99:308,0,239
1 94674295 . T C 372.74 PASS AB=0.594;AC=1;AF=0.50;AN=2;BaseQRankSum=3.583;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.8245;MQ=60.0;MQ0=0;MQRankSum=0.861;QD=11.3;ReadPosRankSum=-0.22;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ARHGAP29;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260526 GT:AD:DP:GQ:PL 0/1:19,13:33:99:403,0,566
1 94674723 rs6684237 G A 294.34 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.7;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ARHGAP29;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260526 GT:AD:DP:GQ:PL 1/1:0,9:9:24.08:327,24,0
1 94686110 rs1411698 A T 39.26 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=19.63;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ARHGAP29;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260526 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:71,6,0
1 94941376 rs681187 G A 272.15 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.139;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9933;MQ=60.0;MQ0=0;MQRankSum=0.922;QD=16.01;ReadPosRankSum=-0.597;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468860 GT:AD:DP:GQ:PL 0/1:6,10:17:99:302,0,204
1 94980671 rs3118109 C G 1414.47 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.27;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370214 GT:AD:DP:GQ:PL 1/1:0,39:39:99:1447,108,0
1 94982785 rs77888949 A T 230.60 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.363;DB;DP=26;Dels=0.0;FS=0.0;HRun=8;HaplotypeScore=0.9997;MQ=59.11;MQ0=0;MQRankSum=0.694;QD=8.87;ReadPosRankSum=-1.517;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464165 GT:AD:DP:GQ:PL 0/1:12,14:26:99:261,0,342
1 94982810 rs337592 A G 209.58 PASS AB=0.588;AC=1;AF=0.50;AN=2;BaseQRankSum=2.391;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9996;MQ=58.63;MQ0=0;MQRankSum=-0.439;QD=12.33;ReadPosRankSum=1.025;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464165 GT:AD:DP:GQ:PL 0/1:10,7:17:99:240,0,346
1 95001600 rs698946 A C 4333.99 PASS AC=2;AF=1.00;AN=2;DB;DP=125;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8321;MQ=59.63;MQ0=0;QD=34.67;SNPEFF_AMINO_ACID_CHANGE=P111;SNPEFF_CODON_CHANGE=ccT/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_95001521_95001720;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=F3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000334047 GT:AD:DP:GQ:PL 1/1:0,125:125:99:4334,337,0
1 95286658 rs6676991 C A 240.29 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=41.96;MQ0=0;QD=26.7;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC44A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271227 GT:AD:DP:GQ:PL 1/1:0,9:9:24.05:273,24,0
1 95286675 rs11274910 GTCCCAAATGTAAA G 563.64 PASS AC=2;AF=1.00;AN=2;DB;DP=6;FS=0.0;HRun=0;HaplotypeScore=96.199;IndelType=D;MQ=29.0;MQ0=0;QD=93.94;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC44A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271227 GT:AD:DP:GQ:PL 1/1:1,5:6:15.05:605,15,0
1 95290003 rs6687749 C T 672.54 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.03;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC44A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271227 GT:AD:DP:GQ:PL 1/1:0,21:21:54.17:706,54,0
1 95290305 rs6541372 T C 306.36 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.04;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC44A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271227 GT:AD:DP:GQ:PL 1/1:0,9:9:27.08:339,27,0
1 95293005 rs17407097 A G 421.92 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.077;DB;DP=26;Dels=0.0;FS=1.799;HRun=0;HaplotypeScore=0.0;MQ=59.28;MQ0=0;MQRankSum=-1.128;QD=16.23;ReadPosRankSum=-1.385;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC44A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271227 GT:AD:DP:GQ:PL 0/1:13,13:26:99:452,0,425
1 95294089 rs2640065 T C 1354.09 PASS AB=0.505;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.45;DB;DP=95;Dels=0.0;FS=0.776;HRun=0;HaplotypeScore=2.9313;MQ=59.76;MQ0=0;MQRankSum=0.659;QD=14.25;ReadPosRankSum=0.145;SNPEFF_AMINO_ACID_CHANGE=Y104;SNPEFF_CODON_CHANGE=taT/taC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_95294049_95294142;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC44A3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000422520 GT:AD:DP:GQ:PL 0/1:48,47:95:99:1384,0,1416
1 95294370 rs2640066 G A 89.26 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.75;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC44A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271227 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:121,9,0
1 95305440 rs859120 A G 759.46 PASS AB=0.439;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.511;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.46;QD=18.52;ReadPosRankSum=0.118;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC44A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000422520 GT:AD:DP:GQ:PL 0/1:18,23:41:99:789,0,603
1 95307842 rs698967 T C 243.51 PASS AB=0.385;AC=1;AF=0.50;AN=2;BaseQRankSum=0.978;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=-1.092;QD=18.73;ReadPosRankSum=1.991;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC44A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000422520 GT:AD:DP:GQ:PL 0/1:5,8:13:99:274,0,153
1 95330372 rs859098 G A 4854.59 PASS AC=2;AF=1.00;AN=2;DB;DP=134;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.7886;MQ=60.0;MQ0=0;QD=36.23;SNPEFF_AMINO_ACID_CHANGE=V358I;SNPEFF_CODON_CHANGE=Gtt/Att;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_95330299_95330455;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC44A3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000532427 GT:AD:DP:GQ:PL 1/1:0,133:134:99:4855,355,0
1 95333068 rs859096 G T 400.80 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.4;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC44A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271227 GT:AD:DP:GQ:PL 1/1:0,12:12:33.11:434,33,0
1 95333195 rs859095 G A 44.66 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.33;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC44A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271227 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:76,6,0
1 95358096 rs859063 A G 2882.78 PASS AC=2;AF=1.00;AN=2;DB;DP=78;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.96;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNN3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370206 GT:AD:DP:GQ:PL 1/1:0,78:78:99:2916,211,0
1 95367108 rs72357122 ACC A 289.62 PASS AC=2;AF=1.00;AN=2;DB;DP=12;FS=0.0;HRun=10;HaplotypeScore=77.195;IndelType=D;MQ=58.98;MQ0=0;QD=24.14;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNN3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474409 GT:AD:DP:GQ:PL 1/1:2,10:12:30.08:332,30,0
1 95367136 rs859059 G A 743.54 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.42;MQ0=0;QD=35.41;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNN3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474409 GT:AD:DP:GQ:PL 1/1:0,21:21:60.18:777,60,0
1 95367649 rs859058 T C 1098.93 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;QD=30.53;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNN3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474409 GT:AD:DP:GQ:PL 1/1:0,36:36:87.27:1132,87,0
1 95367894 rs859057 A C 201.16 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.74;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNN3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370206 GT:AD:DP:GQ:PL 1/1:0,7:7:18.06:234,18,0
1 95369211 rs859054 T G 541.30 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.66;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNN3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370206 GT:AD:DP:GQ:PL 1/1:0,14:14:42.14:574,42,0
1 95709821 rs259358 T C 1957.41 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.933;MQ=59.27;MQ0=0;QD=31.07;SNPEFF_AMINO_ACID_CHANGE=V32A;SNPEFF_CODON_CHANGE=gTg/gCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_95709767_95711058;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RWDD3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000429514 GT:AD:DP:GQ:PL 1/1:0,63:63:99:1990,150,0
1 95709939 rs2296308 T G 1943.63 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.61;MQ0=0;QD=32.94;SNPEFF_AMINO_ACID_CHANGE=N71K;SNPEFF_CODON_CHANGE=aaT/aaG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_95709767_95711058;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RWDD3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000429514 GT:AD:DP:GQ:PL 1/1:0,59:59:99:1977,147,0
1 96913765 rs4000303 A G 189.70 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.989;DB;DP=22;Dels=0.0;FS=3.056;HRun=0;HaplotypeScore=0.0;MQ=42.43;MQ0=0;MQRankSum=-1.55;QD=8.62;ReadPosRankSum=0.429;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=EEF1A1P11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000415278 GT:AD:DP:GQ:PL 0/1:12,10:22:99:220,0,387
1 97250452 rs75437331 A G 121.98 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.922;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.198;QD=17.43;ReadPosRankSum=1.495;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PTBP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236228 GT:AD:DP:GQ:PL 0/1:2,5:7:53.95:152,0,54
1 97278671 rs41299549 G C 1663.67 PASS AB=0.386;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.907;DB;DP=88;Dels=0.0;FS=2.946;HRun=1;HaplotypeScore=2.8422;MQ=58.78;MQ0=0;MQRankSum=-0.073;QD=18.91;ReadPosRankSum=1.504;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PTBP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000459735 GT:AD:DP:GQ:PL 0/1:34,54:88:99:1694,0,987
1 97544771 rs290855 T C 1013.51 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.69;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DPYD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370192 GT:AD:DP:GQ:PL 1/1:0,31:31:78.25:1047,78,0
1 97547831 rs290854 G A 1940.72 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.78;MQ0=0;QD=34.05;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DPYD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370192 GT:AD:DP:GQ:PL 1/1:0,57:57:99:1974,147,0
1 97981242 rs2811178 T C 229.55 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=0.381;DB;DP=24;Dels=0.0;FS=2.114;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.908;QD=9.56;ReadPosRankSum=-0.322;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DPYD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370192 GT:AD:DP:GQ:PL 0/1:14,10:24:99:260,0,439
1 98039541 rs56293913 A G 268.85 PASS AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=2.561;DB;DP=19;Dels=0.0;FS=3.274;HRun=1;HaplotypeScore=0.0;MQ=58.78;MQ0=0;MQRankSum=-1.589;QD=14.15;ReadPosRankSum=0.265;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DPYD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370192 GT:AD:DP:GQ:PL 0/1:10,9:19:99:299,0,282
1 98144856 rs3790387 T C 60.31 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.537;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=10.05;ReadPosRankSum=0.988;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DPYD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370192 GT:AD:DP:GQ:PL 0/1:3,3:6:90.30:90,0,108
1 98164768 rs6668296 C T 104.83 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.365;DB;DP=10;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=57.66;MQ0=0;MQRankSum=0.365;QD=10.48;ReadPosRankSum=-0.741;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DPYD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370192 GT:AD:DP:GQ:PL 0/1:6,4:10:99:135,0,209
1 98165091 rs2297595 T C 1533.95 PASS AB=0.523;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.182;DB;DP=109;Dels=0.0;FS=5.725;HRun=0;HaplotypeScore=0.0;MQ=59.58;MQ0=0;MQRankSum=1.98;QD=14.07;ReadPosRankSum=0.415;SNPEFF_AMINO_ACID_CHANGE=M166V;SNPEFF_CODON_CHANGE=Atg/Gtg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_98164907_98165103;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DPYD;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000370192 GT:AD:DP:GQ:PL 0/1:57,52:109:99:1564,0,1861
1 98186229 rs55684412 T C 38.25 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=7.65;ReadPosRankSum=-1.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DPYD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370192 GT:AD:DP:GQ:PL 0/1:3,2:5:68.24:68,0,110
1 98348885 rs1801265 G A 538.98 PASS AB=0.432;AC=1;AF=0.50;AN=2;BaseQRankSum=0.414;DB;DP=37;Dels=0.0;FS=2.884;HRun=0;HaplotypeScore=0.9332;MQ=58.74;MQ0=0;MQRankSum=-0.015;QD=14.57;ReadPosRankSum=-0.598;SNPEFF_AMINO_ACID_CHANGE=R29C;SNPEFF_CODON_CHANGE=Cgt/Tgt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_98348820_98348930;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DPYD;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000306031 GT:AD:DP:GQ:PL 0/1:16,21:37:99:569,0,508
1 98349390 rs111231337 C CA 846.83 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.134;DB;DP=45;FS=0.0;HRun=11;HaplotypeScore=183.1027;IndelType=I;MQ=57.89;MQ0=0;MQRankSum=1.574;QD=18.82;ReadPosRankSum=1.354;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DPYD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000306031 GT:AD:DP:GQ:PL 1/1:9,34:45:55.22:889,55,0
1 99150635 rs9433747 G A 1031.01 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;QD=36.82;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SNX7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000306121 GT:AD:DP:GQ:PL 1/1:0,28:28:78.26:1064,78,0
1 99167215 rs5776431 CA C 214.29 PASS AC=2;AF=1.00;AN=2;DB;DP=12;FS=0.0;HRun=13;HaplotypeScore=56.582;IndelType=D;MQ=59.89;MQ0=0;QD=17.86;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SNX7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000306121 GT:AD:DP:GQ:PL 1/1:2,10:12:35.72:256,36,0
1 99225627 rs2019213 G A 1228.54 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.36;MQ0=0;QD=34.13;SNPEFF_AMINO_ACID_CHANGE=E317;SNPEFF_CODON_CHANGE=gaG/gaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_99225610_99226054;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SNX7;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000370189 GT:AD:DP:GQ:PL 1/1:0,36:36:90.30:1262,90,0
1 99387628 rs79819201 T TA 528.79 PASS AB=0.672;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.088;DB;DP=39;FS=0.0;HRun=8;HaplotypeScore=81.4953;IndelType=I;MQ=60.0;MQ0=0;MQRankSum=-2.066;QD=13.56;ReadPosRankSum=-0.344;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AL161744.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263177 GT:AD:DP:GQ:PL 0/1:20,19:39:99:568,0,212
1 99418911 rs10674519 T TTGTG 256.50 PASS AB=0.848;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=28;FS=0.0;HRun=0;HaplotypeScore=165.4291;IndelType=I;MQ=57.03;MQ0=0;MQRankSum=-0.825;QD=9.16;ReadPosRankSum=-1.932;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AL161744.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263177 GT:AD:DP:GQ:PL 0/1:23,5:28:99:296,0,145
1 99470269 rs12057990 T C 150.27 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.347;DB;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=53.36;MQ0=0;MQRankSum=-0.041;QD=6.83;ReadPosRankSum=1.021;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AL161744.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000534652 GT:AD:DP:GQ:PL 0/1:12,10:22:99:180,0,319
1 99764303 rs819911 T C 121.77 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.44;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RP4-788L13.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263178 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:154,12,0
1 99766253 rs819915 C G 91.96 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.65;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RP4-788L13.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263178 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:124,9,0
1 100111956 rs834997 A G 949.42 PASS AB=0.393;AC=1;AF=0.50;AN=2;BaseQRankSum=4.355;DB;DP=56;Dels=0.0;FS=1.287;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.885;QD=16.95;ReadPosRankSum=-0.283;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PALMD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263174 GT:AD:DP:GQ:PL 0/1:22,34:56:99:979,0,667
1 100133438 rs35580645 CT C 208.31 PASS AC=2;AF=1.00;AN=2;DB;DP=18;FS=0.0;HRun=14;HaplotypeScore=95.8875;IndelType=D;MQ=55.96;MQ0=0;QD=11.57;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PALMD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263174 GT:AD:DP:GQ:PL 1/1:5,12:18:37.70:250,38,0
1 100133510 rs1416230 C T 52.22 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=65.19;MQ0=0;QD=26.11;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PALMD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263174 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:83,6,0
1 100152443 rs1338576 T C 1944.28 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.3;MQ0=0;QD=32.4;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PALMD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263174 GT:AD:DP:GQ:PL 1/1:0,60:60:99:1977,159,0
1 100316589 rs2307130 A G 3463.86 PASS AC=2;AF=1.00;AN=2;DB;DP=108;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8321;MQ=59.57;MQ0=0;QD=32.07;SNPEFF_EFFECT=SPLICE_SITE_ACCEPTOR;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGL;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000370165 GT:AD:DP:GQ:PL 1/1:0,108:108:99:3464,253,0
1 100316765 rs663848 C T 644.65 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.93;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294724 GT:AD:DP:GQ:PL 1/1:0,19:19:51.17:678,51,0
1 100327481 rs3766592 C A 120.51 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.13;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294724 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:153,12,0
1 100329889 rs535461 G C 1326.48 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.25;MQ0=0;QD=35.85;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294724 GT:AD:DP:GQ:PL 1/1:0,37:37:99:1359,105,0
1 100330237 rs538389 A G 450.81 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.57;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294724 GT:AD:DP:GQ:PL 1/1:0,12:12:36.12:484,36,0
1 100330295 rs539157 T C 35.48 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.74;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294724 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:67,6,0
1 100335883 rs903126 A G 299.35 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.21;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294724 GT:AD:DP:GQ:PL 1/1:0,11:11:30.06:332,30,0
1 100336361 rs2230306 C T 1673.60 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;QD=31.58;SNPEFF_AMINO_ACID_CHANGE=L281;SNPEFF_CODON_CHANGE=ctC/ctT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_100336314_100336425;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGL;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000361522 GT:AD:DP:GQ:PL 1/1:0,53:53:99:1707,123,0
1 100340225 rs634880 G A 831.60 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.8;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294724 GT:AD:DP:GQ:PL 1/1:0,22:22:63.21:865,63,0
1 100342227 rs3736295 C T 712.47 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.01;MQ0=0;QD=37.5;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477753 GT:AD:DP:GQ:PL 1/1:0,19:19:54.18:745,54,0
1 100343073 rs2291637 T A 314.08 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.9;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477753 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:347,27,0
1 100343153 rs2291638 A G 804.26 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.79;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477753 GT:AD:DP:GQ:PL 1/1:0,27:27:72.19:837,72,0
1 100345409 rs2392077 C G 541.83 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.86;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477753 GT:AD:DP:GQ:PL 1/1:0,16:16:45.13:575,45,0
1 100346741 rs3736296 T C 1766.21 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.63;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477753 GT:AD:DP:GQ:PL 1/1:0,51:51:99:1799,135,0
1 100350383 rs2234707 G A 493.73 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.47;MQ0=0;QD=37.98;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294724 GT:AD:DP:GQ:PL 1/1:0,13:13:39.13:527,39,0
1 100353675 rs555929 G A 1529.15 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.54;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294724 GT:AD:DP:GQ:PL 1/1:0,47:47:99:1562,114,0
1 100357041 rs2035960 A G 779.19 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294724 GT:AD:DP:GQ:PL 1/1:0,21:21:60.19:812,60,0
1 100357141 rs2035961 T A 1620.89 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7653;MQ=60.0;MQ0=0;QD=34.49;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294724 GT:AD:DP:GQ:PL 1/1:0,47:47:99:1654,123,0
1 100358200 rs594249 G A 779.17 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.84;MQ0=0;QD=38.96;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294724 GT:AD:DP:GQ:PL 1/1:0,20:20:60.20:812,60,0
1 100366446 rs34436422 GTT G 588.23 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-2.08;DB;DP=48;FS=0.0;HRun=15;HaplotypeScore=237.4683;IndelType=D;MQ=57.43;MQ0=1;MQRankSum=2.194;QD=12.0;ReadPosRankSum=0.598;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294724 GT:AD:DP:GQ:PL 1/1:24,21:48:27.78:630,28,0
1 100376448 rs2274570 G A 233.86 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.23;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294724 GT:AD:DP:GQ:PL 1/1:0,8:8:21.07:267,21,0
1 100376456 rs1541041 T A 298.83 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.35;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294724 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:332,24,0
1 100381109 rs11438303 A AT 470.56 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.709;DB;DP=39;FS=0.0;HRun=13;HaplotypeScore=179.7656;IndelType=I;MQ=57.59;MQ0=0;MQRankSum=-0.273;QD=12.07;ReadPosRankSum=-0.273;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294724 GT:AD:DP:GQ:PL 1/1:19,19:39:27.53:513,28,0
1 100381869 rs2296885 G A 550.68 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.42;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294724 GT:AD:DP:GQ:PL 1/1:0,16:16:45.14:584,45,0
1 100472604 rs534252 A G 449.62 PASS AB=0.541;AC=1;AF=0.50;AN=2;BaseQRankSum=3.124;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9967;MQ=59.5;MQ0=0;MQRankSum=0.838;QD=12.15;ReadPosRankSum=-0.29;SNPEFF_AMINO_ACID_CHANGE=L119;SNPEFF_CODON_CHANGE=ttA/ttG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_100472590_100472712;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC35A3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000370155 GT:AD:DP:GQ:PL 0/1:20,17:37:99:480,0,674
1 100483213 rs11166393 A G 63.70 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=1.3;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.55;QD=9.1;ReadPosRankSum=0.55;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC35A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000422078 GT:AD:DP:GQ:PL 0/1:3,4:7:93.70:94,0,99
1 100533387 rs577539 A G 109.18 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.731;QD=21.84;ReadPosRankSum=-0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HIAT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370152 GT:AD:DP:GQ:PL 0/1:1,4:5:27.18:139,0,27
1 100533960 rs6687189 G A 552.04 PASS AB=0.407;AC=1;AF=0.50;AN=2;BaseQRankSum=4.318;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.271;QD=20.45;ReadPosRankSum=0.617;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HIAT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370152 GT:AD:DP:GQ:PL 0/1:11,16:27:99:582,0,300
1 100543962 rs644835 A G 206.81 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.204;DB;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9665;MQ=58.95;MQ0=0;MQRankSum=-0.106;QD=9.4;ReadPosRankSum=-0.669;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HIAT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370152 GT:AD:DP:GQ:PL 0/1:11,11:22:99:237,0,407
1 100568759 rs544225 C G 119.54 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=55.16;MQ0=0;QD=29.89;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SASS6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287482 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:152,12,0
1 100575933 rs13375867 G A 541.89 PASS AB=0.63;AC=1;AF=0.50;AN=2;BaseQRankSum=1.22;DB;DP=54;Dels=0.0;FS=6.281;HRun=0;HaplotypeScore=1.565;MQ=59.65;MQ0=0;MQRankSum=0.706;QD=10.03;ReadPosRankSum=0.486;SNPEFF_AMINO_ACID_CHANGE=A232V;SNPEFF_CODON_CHANGE=gCg/gTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_100575848_100576039;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SASS6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000539329 GT:AD:DP:GQ:PL 0/1:34,20:54:99:572,0,917
1 100587146 rs17418475 T C 219.78 PASS AB=0.654;AC=1;AF=0.50;AN=2;BaseQRankSum=0.323;DB;DP=26;Dels=0.0;FS=5.724;HRun=0;HaplotypeScore=0.9867;MQ=60.0;MQ0=0;MQRankSum=-0.162;QD=8.45;ReadPosRankSum=0.377;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SASS6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287482 GT:AD:DP:GQ:PL 0/1:17,9:26:99:250,0,625
1 100598866 rs472498 G A 181.77 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=0.356;DB;DP=26;Dels=0.0;FS=1.583;HRun=0;HaplotypeScore=0.0;MQ=59.11;MQ0=0;MQRankSum=-1.341;QD=6.99;ReadPosRankSum=0.246;SNPEFF_AMINO_ACID_CHANGE=A17T;SNPEFF_CODON_CHANGE=Gcg/Acg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_100598771_100598871;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC76;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000370139 GT:AD:DP:GQ:PL 0/1:14,12:26:99:212,0,359
1 100598867 rs687513 C T 192.95 PASS AB=0.52;AC=1;AF=0.50;AN=2;BaseQRankSum=1.912;DB;DP=25;Dels=0.0;FS=1.76;HRun=0;HaplotypeScore=0.0;MQ=59.07;MQ0=0;MQRankSum=0.232;QD=7.72;ReadPosRankSum=0.058;SNPEFF_AMINO_ACID_CHANGE=A17V;SNPEFF_CODON_CHANGE=gCg/gTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_100598771_100598871;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC76;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000370139 GT:AD:DP:GQ:PL 0/1:13,12:25:99:223,0,298
1 100617887 rs2784177 C T 877.25 PASS AB=0.567;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.309;DB;DP=67;Dels=0.0;FS=1.902;HRun=0;HaplotypeScore=0.0;MQ=59.66;MQ0=0;MQRankSum=-0.361;QD=13.09;ReadPosRankSum=1.221;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC76;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370141 GT:AD:DP:GQ:PL 0/1:38,29:67:99:907,0,1315
1 100624113 rs142356038 C T 36.72 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.46;MQ0=0;QD=12.24;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRC39;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342895 GT:AD:DP:GQ:PL 1/1:0,3:3:6.01:68,6,0
1 100662090 rs113505577 CTG C 371.65 PASS AC=2;AF=1.00;AN=2;DB;DP=9;FS=0.0;HRun=0;HaplotypeScore=33.9462;IndelType=D;MQ=58.63;MQ0=0;QD=41.29;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DBT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370132 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:414,27,0
1 100671755 rs115696850 A C 799.28 PASS AB=0.532;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.806;DB;DP=62;Dels=0.0;FS=0.992;HRun=1;HaplotypeScore=2.9908;MQ=58.5;MQ0=0;MQRankSum=0.085;QD=12.89;ReadPosRankSum=-0.832;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DBT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370131 GT:AD:DP:GQ:PL 0/1:33,29:62:99:829,0,1009
1 100671860 . AT A 180.07 PASS AB=0.9;AC=1;AF=0.50;AN=2;BaseQRankSum=0.769;DP=54;FS=9.848;HRun=6;HaplotypeScore=303.5911;IndelType=D;MQ=56.94;MQ0=0;MQRankSum=0.487;QD=3.33;ReadPosRankSum=-0.231;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DBT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370131 GT:AD:DP:GQ:PL 0/1:48,6:54:99:219,0,768
1 100671866 rs34229137 T A 141.85 PASS AB=0.696;AC=1;AF=0.50;AN=2;BaseQRankSum=1.461;DB;DP=56;Dels=0.0;FS=1.249;HRun=13;HaplotypeScore=11.3656;MQ=56.62;MQ0=0;MQRankSum=1.265;QD=2.53;ReadPosRankSum=0.535;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DBT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370131 GT:AD:DP:GQ:PL 0/1:39,17:56:99:172,0,969
1 100672060 rs12021720 T C 2794.96 PASS AB=0.474;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.129;DB;DP=190;Dels=0.0;FS=1.803;HRun=1;HaplotypeScore=2.7022;MQ=59.64;MQ0=0;MQRankSum=-0.385;QD=14.56;ReadPosRankSum=-0.085;SNPEFF_AMINO_ACID_CHANGE=S203G;SNPEFF_CODON_CHANGE=Agt/Ggt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_100672001_100672192;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DBT;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000543138 GT:AD:DP:GQ:PL 0/1:90,100:190:99:2825,0,2711
1 100715454 rs3806235 G A 99.79 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.79;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.03;QD=6.24;ReadPosRankSum=0.38;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DBT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370131 GT:AD:DP:GQ:PL 0/1:10,6:16:99:130,0,325
1 100733207 rs113878786 G GT 612.81 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.019;DB;DP=43;FS=0.0;HRun=14;HaplotypeScore=284.9877;IndelType=I;MQ=55.09;MQ0=0;MQRankSum=0.612;QD=14.25;ReadPosRankSum=0.102;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RTCD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370126 GT:AD:DP:GQ:PL 1/1:15,17:43:80.22:655,80,0
1 100733552 rs4298755 T C 94.62 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.368;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.421;QD=11.83;ReadPosRankSum=-1.638;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RTCD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370126 GT:AD:DP:GQ:PL 0/1:4,4:8:99:125,0,133
1 100736488 rs12733493 C A 34.08 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=8.52;ReadPosRankSum=1.026;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RTCD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370126 GT:AD:DP:GQ:PL 0/1:2,2:4:64.08:64,0,66
1 100740694 rs3131833 G A 232.26 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.18;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RTCD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000483474 GT:AD:DP:GQ:PL 1/1:0,7:7:21.06:265,21,0
1 100742670 rs4495726 A G 43.21 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.92;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.322;QD=5.4;ReadPosRankSum=0.956;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RTCD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000483474 GT:AD:DP:GQ:PL 0/1:5,3:8:73.20:73,0,178
1 100750733 rs68135526 AGTTTT A 365.35 PASS AB=0.692;AC=1;AF=0.50;AN=2;BaseQRankSum=3.165;DB;DP=18;FS=0.0;HRun=0;HaplotypeScore=94.6719;IndelType=D;MQ=60.0;MQ0=0;MQRankSum=-0.225;QD=20.3;ReadPosRankSum=-0.627;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RTCD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260563 GT:AD:DP:GQ:PL 0/1:10,8:18:99:404,0,470
1 100756884 rs148947507 CT C 432.07 PASS AB=0.639;AC=1;AF=0.50;AN=2;BaseQRankSum=1.83;DB;DP=23;FS=0.0;HRun=1;HaplotypeScore=69.328;IndelType=D;MQ=60.47;MQ0=0;MQRankSum=0.899;QD=18.79;ReadPosRankSum=-1.767;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RTCD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260563 GT:AD:DP:GQ:PL 0/1:10,13:23:99:471,0,411
1 100797449 rs614766 A T 816.25 PASS AB=0.415;AC=1;AF=0.50;AN=2;BaseQRankSum=1.119;DB;DP=53;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.5784;MQ=59.65;MQ0=0;MQRankSum=-0.373;QD=15.4;ReadPosRankSum=0.037;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP5-837M10.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401024 GT:AD:DP:GQ:PL 0/1:22,31:53:99:846,0,633
1 100797473 rs614805 T C 833.58 PASS AB=0.434;AC=1;AF=0.50;AN=2;BaseQRankSum=0.565;DB;DP=53;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.7825;MQ=59.29;MQ0=0;MQRankSum=-0.972;QD=15.73;ReadPosRankSum=1.584;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP5-837M10.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401024 GT:AD:DP:GQ:PL 0/1:23,30:53:99:864,0,694
1 100818286 rs527644 A T 47.34 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.67;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC14A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000455467 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
1 100818464 rs594529 T C 854.19 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9665;MQ=60.0;MQ0=0;QD=32.85;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC14A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000455467 GT:AD:DP:GQ:PL 1/1:0,26:26:69.22:887,69,0
1 100908324 rs584350 A G 74.19 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.358;QD=14.84;ReadPosRankSum=0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC14A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336454 GT:AD:DP:GQ:PL 0/1:2,3:5:68.94:104,0,69
1 100933388 rs560431 T C 378.66 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.11;MQ0=0;QD=37.87;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC14A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000455467 GT:AD:DP:GQ:PL 1/1:0,10:10:30.10:412,30,0
1 100950183 . TA T 52.89 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=1.92;DP=8;FS=0.0;HRun=12;HaplotypeScore=19.3713;IndelType=D;MQ=61.34;MQ0=0;MQRankSum=0.684;QD=6.61;ReadPosRankSum=-0.322;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC14A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336454 GT:AD:DP:GQ:PL 0/1:3,5:8:67.43:92,0,67
1 100961419 rs2270692 A G 425.69 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.75;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC14A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336454 GT:AD:DP:GQ:PL 1/1:0,13:13:36.11:459,36,0
1 100961779 rs34361112 ATT A 94.38 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.742;DB;DP=9;FS=0.0;HRun=15;HaplotypeScore=73.0231;IndelType=D;MQ=54.65;MQ0=0;MQRankSum=-0.742;QD=10.49;ReadPosRankSum=0.742;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC14A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336454 GT:AD:DP:GQ:PL 1/1:2,5:9:12.16:136,12,0
1 100963418 rs904296 T G 42.43 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=14.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC14A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336454 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:74,6,0
1 100963479 rs35904273 CAG C 486.90 PASS AC=2;AF=1.00;AN=2;DB;DP=12;FS=0.0;HRun=0;HaplotypeScore=70.0542;IndelType=D;MQ=57.0;MQ0=0;QD=40.57;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC14A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336454 GT:AD:DP:GQ:PL 1/1:0,12:12:36.12:529,36,0
1 100983623 rs3767839 G A 176.66 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.33;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC14A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336454 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:209,15,0
1 101005090 rs2809819 G A 130.46 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.62;SNPEFF_AMINO_ACID_CHANGE=V190I;SNPEFF_CODON_CHANGE=Gtc/Atc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_101004450_101007574;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR88;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000315033 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:163,12,0
1 101189027 rs1476408 C G 170.58 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=49.17;MQ0=0;QD=24.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VCAM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294728 GT:AD:DP:GQ:PL 1/1:0,7:7:15.05:203,15,0
1 101190173 rs2392221 C T 624.46 PASS AB=0.557;AC=1;AF=0.50;AN=2;BaseQRankSum=3.444;DB;DP=61;Dels=0.0;FS=5.369;HRun=3;HaplotypeScore=0.9916;MQ=59.62;MQ0=0;MQRankSum=1.112;QD=10.24;ReadPosRankSum=0.744;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VCAM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294728 GT:AD:DP:GQ:PL 0/1:34,27:61:99:654,0,985
1 101199979 rs3176875 A G 356.64 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.66;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VCAM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294728 GT:AD:DP:GQ:PL 1/1:0,10:10:30.09:390,30,0
1 101203395 rs3176877 A T 48.08 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.04;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VCAM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294728 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
1 101203827 rs3176879 G A 2032.23 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.44;SNPEFF_AMINO_ACID_CHANGE=K537;SNPEFF_CODON_CHANGE=aaG/aaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_101203679_101204594;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VCAM1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000370115 GT:AD:DP:GQ:PL 1/1:0,59:59:99:2065,153,0
1 101342497 rs2295280 T C 490.09 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.451;DB;DP=32;Dels=0.0;FS=3.01;HRun=0;HaplotypeScore=0.5784;MQ=59.28;MQ0=0;MQRankSum=0.358;QD=15.32;ReadPosRankSum=0.509;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EXTL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000416479 GT:AD:DP:GQ:PL 0/1:16,16:32:99:520,0,548
1 101372607 rs4908106 C A 82.06 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.35;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC30A7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357650 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:114,9,0
1 102251767 rs71088109 CT C 56.30 PASS AB=0.552;AC=1;AF=0.50;AN=2;BaseQRankSum=0.691;DB;DP=15;FS=0.0;HRun=17;HaplotypeScore=86.0887;IndelType=D;MQ=38.32;MQ0=0;MQRankSum=-2.27;QD=3.52;ReadPosRankSum=-1.875;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP11-556K13.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000332100 GT:AD:DP:GQ:PL 0/1:3,8:15:14.20:95,0,14
1 102296144 rs10493974 T G 1259.54 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.9401;MQ=58.59;MQ0=0;QD=38.17;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OLFM3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000338858 GT:AD:DP:GQ:PL 1/1:0,32:33:96.30:1293,96,0
1 102296279 rs10493973 T C 3474.84 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.121;DB;DP=112;Dels=0.0;FS=2.981;HRun=0;HaplotypeScore=0.0;MQ=59.59;MQ0=0;MQRankSum=-0.868;QD=31.03;ReadPosRankSum=-0.648;SNPEFF_AMINO_ACID_CHANGE=K107;SNPEFF_CODON_CHANGE=aaA/aaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_102296228_102296383;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OLFM3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000370103 GT:AD:DP:GQ:PL 1/1:2,110:112:99:3475,193,0
1 103352451 rs2229783 A G 1193.03 PASS AB=0.443;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.39;DB;DP=79;Dels=0.0;FS=9.59;HRun=0;HaplotypeScore=0.5784;MQ=59.71;MQ0=0;MQRankSum=1.021;QD=15.1;ReadPosRankSum=-0.656;SNPEFF_AMINO_ACID_CHANGE=I1474;SNPEFF_CODON_CHANGE=atT/atC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_103352363_103352612;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL11A1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000512756 GT:AD:DP:GQ:PL 0/1:35,44:79:99:1223,0,1185
1 103352773 rs11164628 C T 40.02 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.44;MQ0=0;MQRankSum=0.736;QD=13.34;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL11A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000353414 GT:AD:DP:GQ:PL 0/1:1,2:3:22.52:70,0,23
1 103353933 rs11164633 G T 46.65 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL11A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000353414 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:78,6,0
1 103353934 rs2615980 C T 46.97 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.48;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL11A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000353414 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:78,6,0
1 103354115 rs17127203 T C 358.64 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.087;DB;DP=24;Dels=0.0;FS=6.701;HRun=1;HaplotypeScore=0.0;MQ=59.22;MQ0=0;MQRankSum=-0.202;QD=14.94;ReadPosRankSum=0.837;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL11A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000353414 GT:AD:DP:GQ:PL 0/1:12,12:24:99:389,0,394
1 103354138 rs1676486 A G 540.12 PASS AB=0.406;AC=1;AF=0.50;AN=2;BaseQRankSum=2.264;DB;DP=32;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9159;MQ=59.42;MQ0=0;MQRankSum=0.23;QD=16.88;ReadPosRankSum=-1.036;SNPEFF_AMINO_ACID_CHANGE=S1419P;SNPEFF_CODON_CHANGE=Tct/Cct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_103354133_103354186;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL11A1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000512756 GT:AD:DP:GQ:PL 0/1:13,19:32:99:570,0,420
1 103354428 rs1763347 A G 1154.97 PASS AB=0.477;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.666;DB;DP=86;Dels=0.0;FS=0.831;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.458;QD=13.43;ReadPosRankSum=0.294;SNPEFF_AMINO_ACID_CHANGE=G1388;SNPEFF_CODON_CHANGE=ggT/ggC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_103354422_103354475;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL11A1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000512756 GT:AD:DP:GQ:PL 0/1:41,45:86:99:1185,0,1178
1 103356107 rs11164634 A G 214.85 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=0.578;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.4;QD=11.94;ReadPosRankSum=0.133;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL11A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000353414 GT:AD:DP:GQ:PL 0/1:10,8:18:99:245,0,303
1 103356168 rs1085 A C 35.08 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.026;QD=8.77;ReadPosRankSum=-1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL11A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000353414 GT:AD:DP:GQ:PL 0/1:2,2:4:65.07:65,0,71
1 103379918 rs3753841 G A 415.51 PASS AB=0.483;AC=1;AF=0.50;AN=2;BaseQRankSum=0.807;DB;DP=29;Dels=0.0;FS=1.455;HRun=1;HaplotypeScore=0.9999;MQ=59.36;MQ0=0;MQRankSum=-0.327;QD=14.33;ReadPosRankSum=-2.073;SNPEFF_AMINO_ACID_CHANGE=P1207L;SNPEFF_CODON_CHANGE=cCt/cTt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_103379908_103379961;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL11A1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000512756 GT:AD:DP:GQ:PL 0/1:14,15:29:99:446,0,328
1 103380379 rs112615091 T TA 127.05 PASS AB=0.652;AC=1;AF=0.50;AN=2;BaseQRankSum=0.762;DB;DP=15;FS=0.0;HRun=13;HaplotypeScore=58.5199;IndelType=I;MQ=59.91;MQ0=0;MQRankSum=0.762;QD=8.47;ReadPosRankSum=0.762;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL11A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000353414 GT:AD:DP:GQ:PL 0/1:7,8:15:14.12:166,0,14
1 103381129 rs4908273 C T 728.13 PASS AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.245;DB;DP=58;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.578;MQ=60.0;MQ0=0;MQRankSum=0.008;QD=12.55;ReadPosRankSum=-0.647;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL11A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000353414 GT:AD:DP:GQ:PL 0/1:30,27:58:99:758,0,939
1 103385653 rs11801437 G A 198.27 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.05;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL11A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000353414 GT:AD:DP:GQ:PL 1/1:0,6:6:18.05:231,18,0
1 103428389 rs1841834 G A 164.03 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.81;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL11A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000353414 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:197,15,0
1 103444679 rs11164649 T G 746.72 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL11A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000353414 GT:AD:DP:GQ:PL 1/1:0,26:26:60.16:780,60,0
1 103449598 rs2615978 G C 719.25 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=39.96;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL11A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000353414 GT:AD:DP:GQ:PL 1/1:0,18:18:54.18:752,54,0
1 103455217 rs1463034 C T 624.20 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.85;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL11A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000353414 GT:AD:DP:GQ:PL 1/1:1,18:19:48.16:657,48,0
1 103461438 rs140608161 C T 461.85 PASS AB=0.681;AC=1;AF=0.50;AN=2;BaseQRankSum=1.925;DB;DP=69;Dels=0.0;FS=2.211;HRun=2;HaplotypeScore=0.9894;MQ=60.0;MQ0=0;MQRankSum=0.367;QD=6.69;ReadPosRankSum=-0.624;SNPEFF_AMINO_ACID_CHANGE=R7K;SNPEFF_CODON_CHANGE=aGg/aAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_103461420_103461464;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL11A1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000370090 GT:AD:DP:GQ:PL 0/1:47,22:69:99:492,0,1486
1 103461508 rs2622867 T A 2923.72 PASS AC=2;AF=1.00;AN=2;DB;DP=80;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL11A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000353414 GT:AD:DP:GQ:PL 1/1:0,80:80:99:2957,220,0
1 103462386 rs2622868 T C 90.06 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.02;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL11A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461720 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:122,9,0
1 103462473 rs2786125 A G 734.33 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.72;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL11A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461720 GT:AD:DP:GQ:PL 1/1:0,20:20:57.19:767,57,0
1 103463976 rs2622870 G T 435.79 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.52;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL11A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461720 GT:AD:DP:GQ:PL 1/1:0,13:13:39.05:469,39,0
1 103467615 rs2929162 C T 431.45 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.2;MQ0=0;QD=33.19;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL11A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000353414 GT:AD:DP:GQ:PL 1/1:0,13:13:36.10:464,36,0
1 103468336 . A C 79.27 FSFilter60;QDFilter2 AB=0.541;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.97;DP=61;Dels=0.0;FS=94.544;HRun=2;HaplotypeScore=4.3229;MQ=53.21;MQ0=0;MQRankSum=-0.73;QD=1.3;ReadPosRankSum=-1.005;SNPEFF_AMINO_ACID_CHANGE=G554;SNPEFF_CODON_CHANGE=ggT/ggG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_103468303_103468347;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL11A1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000512756 GT:AD:DP:GQ:PL 0/1:33,28:61:99:109,0,1077
1 103468501 . A G 158.59 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=1.495;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.495;QD=22.66;ReadPosRankSum=0.198;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL11A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000353414 GT:AD:DP:GQ:PL 0/1:2,5:7:47.13:189,0,47
1 103468609 rs2251895 A G 43.46 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.73;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL11A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000353414 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:75,6,0
1 103468855 . TAA T 172.02 PASS AB=0.619;AC=1;AF=0.50;AN=2;BaseQRankSum=2.262;DP=13;FS=0.0;HRun=12;HaplotypeScore=49.0242;IndelType=D;MQ=59.9;MQ0=0;MQRankSum=1.531;QD=13.23;ReadPosRankSum=0.382;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL11A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000353414 GT:AD:DP:GQ:PL 0/1:5,8:13:99:211,0,101
1 103471456 rs142425417 CCAT C 2009.20 PASS AC=2;AF=1.00;AN=2;DB;DP=92;FS=0.0;HRun=0;HaplotypeScore=375.662;IndelType=D;MQ=60.38;MQ0=0;QD=21.84;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL11A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427239 GT:AD:DP:GQ:PL 1/1:40,52:92:99:2051,150,0
1 103471734 rs71592255 A AAAATAAATAAAT 1237.59 PASS AC=2;AF=1.00;AN=2;DB;DP=17;FS=0.0;HRun=0;HaplotypeScore=144.4067;IndelType=I;MQ=45.32;MQ0=0;QD=72.8;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL11A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427239 GT:AD:DP:GQ:PL 1/1:10,5:17:27.09:1280,27,0
1 103483514 rs945748 C T 736.46 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.76;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL11A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000353414 GT:AD:DP:GQ:PL 1/1:0,19:19:57.19:769,57,0
1 103487394 rs35291481 CT C 745.95 PASS AC=2;AF=1.00;AN=2;DB;DP=33;FS=0.0;HRun=11;HaplotypeScore=110.5807;IndelType=D;MQ=60.33;MQ0=0;QD=22.6;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL11A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000353414 GT:AD:DP:GQ:PL 1/1:2,31:33:95.89:788,96,0
1 103496620 rs7523441 G T 594.06 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.63;MQ0=0;QD=34.94;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL11A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000353414 GT:AD:DP:GQ:PL 1/1:0,17:17:45.15:627,45,0
1 103496805 rs71094589 GA G 293.51 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.004;DB;DP=23;FS=0.0;HRun=13;HaplotypeScore=105.872;IndelType=D;MQ=59.72;MQ0=0;MQRankSum=-0.639;QD=12.76;ReadPosRankSum=0.639;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL11A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000353414 GT:AD:DP:GQ:PL 1/1:6,16:23:26.12:336,26,0
1 103548319 rs11164662 C G 588.56 PASS AB=0.512;AC=1;AF=0.50;AN=2;BaseQRankSum=0.984;DB;DP=43;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.178;QD=13.69;ReadPosRankSum=0.085;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL11A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000353414 GT:AD:DP:GQ:PL 0/1:22,21:43:99:619,0,692
1 103548497 rs11164663 A C 862.60 PASS AB=0.56;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.219;DB;DP=75;Dels=0.0;FS=1.155;HRun=0;HaplotypeScore=0.0;MQ=59.44;MQ0=0;MQRankSum=-0.229;QD=11.5;ReadPosRankSum=-0.518;SNPEFF_AMINO_ACID_CHANGE=D46E;SNPEFF_CODON_CHANGE=gaT/gaG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_103548361_103548528;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL11A1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000353414 GT:AD:DP:GQ:PL 0/1:42,33:75:99:893,0,1361
1 103573547 rs6691654 G A 370.96 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.5942;MQ=55.21;MQ0=0;QD=24.73;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL11A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000353414 GT:AD:DP:GQ:PL 1/1:0,15:15:33.09:404,33,0
1 104116413 rs17851840 T C 3013.77 PASS AB=0.512;AC=1;AF=0.50;AN=2;BaseQRankSum=1.463;DB;DP=244;DS;Dels=0.0;FS=1.014;HRun=1;HaplotypeScore=0.0;MQ=51.71;MQ0=4;MQRankSum=-3.003;QD=12.35;ReadPosRankSum=-2.345;SNPEFF_AMINO_ACID_CHANGE=N199;SNPEFF_CODON_CHANGE=aaT/aaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_104116330_104116560;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=AMY2B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000361355 GT:AD:DP:GQ:PL 0/1:125,119:244:99:3044,0,3805
1 104118225 . C T 907.56 PASS AB=0.58;AC=1;AF=0.50;AN=2;BaseQRankSum=2.778;DP=69;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.96;MQ0=0;MQRankSum=-1.052;QD=13.15;ReadPosRankSum=0.432;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=AMY2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000435302 GT:AD:DP:GQ:PL 0/1:40,29:69:99:938,0,1439
1 104121744 . A G 95.40 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.65;MQ0=0;MQRankSum=-1.3;QD=13.63;ReadPosRankSum=0.937;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=AMY2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462971 GT:AD:DP:GQ:PL 0/1:3,4:7:99:125,0,101
1 104166496 rs151102880 T C 375.82 MQFilter40;QDFilter2 AB=0.28;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.371;DB;DP=250;DS;Dels=0.0;FS=10.752;HRun=0;HaplotypeScore=1.2434;MQ=8.05;MQ0=200;MQRankSum=-2.167;QD=1.5;ReadPosRankSum=-0.464;SNPEFF_AMINO_ACID_CHANGE=N370;SNPEFF_CODON_CHANGE=aaT/aaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_104166488_104166606;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AMY2A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000393932 GT:AD:DP:GQ:PL 0/1:70,180:250:99:406,0,139
1 104260621 rs142944877 T C 246.38 FSFilter60;MQFilter40;QDFilter2 AB=0.539;AC=1;AF=0.50;AN=2;BaseQRankSum=-6.659;DB;DP=232;Dels=0.0;FS=80.363;HRun=0;HaplotypeScore=7.3863;MQ=15.57;MQ0=126;MQRankSum=-1.238;QD=1.06;ReadPosRankSum=0.866;SNPEFF_AMINO_ACID_CHANGE=N370;SNPEFF_CODON_CHANGE=aaT/aaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_104260613_104260731;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AMY1A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000332554 GT:AD:DP:GQ:PL 0/1:125,107:232:99:276,0,1106
1 104297389 rs140363602 C T 123.57 MQFilter40;QDFilter2 AB=0.904;AC=1;AF=0.50;AN=2;BaseQRankSum=5.521;DB;DP=250;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.8938;MQ=18.67;MQ0=163;MQRankSum=-2.493;QD=0.49;ReadPosRankSum=-1.2;SNPEFF_AMINO_ACID_CHANGE=R352*;SNPEFF_CODON_CHANGE=Cga/Tga;SNPEFF_EFFECT=STOP_GAINED;SNPEFF_EXON_ID=exon_1_104297337_104297436;SNPEFF_FUNCTIONAL_CLASS=NONSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AMY1C;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000370079 GT:AD:DP:GQ:PL 0/1:226,24:250:99:154,0,2165
1 104297591 . T C 47.38 MQFilter40;QDFilter2 AB=0.64;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.55;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=17.56;MQ0=18;MQRankSum=0.55;QD=1.9;ReadPosRankSum=-0.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AMY1C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370079 GT:AD:DP:GQ:PL 0/1:16,9:25:77.38:77,0,124
1 107867641 rs113825565 C T 427.03 PASS AB=0.35;AC=1;AF=0.50;AN=2;BaseQRankSum=0.044;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.84;MQ0=0;MQRankSum=0.219;QD=21.35;ReadPosRankSum=-0.658;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NTNG1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294649 GT:AD:DP:GQ:PL 0/1:7,13:20:99:457,0,194
1 107867717 rs1132933 A C 44.50 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=14.83;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NTNG1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294649 GT:AD:DP:GQ:PL 0/1:1,2:3:31.62:74,0,32
1 107961159 rs12731224 A G 313.19 PASS AB=0.618;AC=1;AF=0.50;AN=2;BaseQRankSum=0.921;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.142;QD=9.21;ReadPosRankSum=-1.311;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NTNG1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370061 GT:AD:DP:GQ:PL 0/1:21,13:34:99:343,0,691
1 107961196 rs17530804 G A 765.39 PASS AB=0.482;AC=1;AF=0.50;AN=2;BaseQRankSum=3.178;DB;DP=56;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.4942;MQ=59.19;MQ0=0;MQRankSum=-0.936;QD=13.43;ReadPosRankSum=-0.952;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NTNG1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370061 GT:AD:DP:GQ:PL 0/1:27,29:56:99:795,0,683
1 107979396 rs480392 A C 3544.33 PASS AC=2;AF=1.00;AN=2;DB;DP=102;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9889;MQ=59.55;MQ0=0;QD=34.75;SNPEFF_AMINO_ACID_CHANGE=G202;SNPEFF_CODON_CHANGE=ggA/ggC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_107979287_107979421;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NTNG1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000370062 GT:AD:DP:GQ:PL 1/1:0,102:102:99:3544,268,0
1 107979566 rs71720094 AT A 278.72 PASS AB=0.524;AC=1;AF=0.50;AN=2;BaseQRankSum=1.393;DB;DP=11;FS=0.0;HRun=2;HaplotypeScore=29.9795;IndelType=D;MQ=61.94;MQ0=0;MQRankSum=0.0;QD=25.34;ReadPosRankSum=-0.696;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NTNG1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370061 GT:AD:DP:GQ:PL 0/1:1,10:11:14.87:318,0,15
1 108115871 rs62618754 C T 170.62 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.468;DB;DP=16;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.208;QD=10.66;ReadPosRankSum=-1.418;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VAV3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343258 GT:AD:DP:GQ:PL 0/1:8,8:16:99:201,0,284
1 108139003 rs3748702 C T 470.12 PASS AB=0.472;AC=1;AF=0.50;AN=2;BaseQRankSum=1.172;DB;DP=36;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.665;QD=13.06;ReadPosRankSum=-1.711;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VAV3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370056 GT:AD:DP:GQ:PL 0/1:17,19:36:99:500,0,534
1 108152630 rs2296877 G T 419.49 PASS AB=0.414;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.166;DB;DP=29;Dels=0.0;FS=3.89;HRun=0;HaplotypeScore=1.9164;MQ=59.2;MQ0=0;MQRankSum=-1.705;QD=14.47;ReadPosRankSum=-1.351;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VAV3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370056 GT:AD:DP:GQ:PL 0/1:12,17:29:99:449,0,431
1 108160260 rs36010982 GA G 345.95 PASS AB=0.726;AC=1;AF=0.50;AN=2;BaseQRankSum=2.094;DB;DP=69;FS=4.409;HRun=12;HaplotypeScore=228.6711;IndelType=D;MQ=59.79;MQ0=0;MQRankSum=0.146;QD=5.01;ReadPosRankSum=-0.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VAV3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370056 GT:AD:DP:GQ:PL 0/1:43,25:69:99:385,0,830
1 108247013 rs4526642 G A 41.63 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=-0.727;QD=10.41;ReadPosRankSum=-0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VAV3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370056 GT:AD:DP:GQ:PL 0/1:1,3:4:28.77:72,0,29
1 108292260 rs6672483 A G 466.55 PASS AB=0.516;AC=1;AF=0.50;AN=2;BaseQRankSum=2.352;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.58;MQ0=0;MQRankSum=1.522;QD=15.05;ReadPosRankSum=1.285;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VAV3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370056 GT:AD:DP:GQ:PL 0/1:16,15:31:99:497,0,528
1 108307636 rs12735293 G C 479.53 PASS AB=0.44;AC=1;AF=0.50;AN=2;BaseQRankSum=0.52;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.834;QD=19.18;ReadPosRankSum=0.849;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VAV3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000524574 GT:AD:DP:GQ:PL 0/1:11,14:25:99:510,0,376
1 108307642 rs7514025 C T 995.10 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.27;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VAV3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000524574 GT:AD:DP:GQ:PL 1/1:0,26:26:75.25:1028,75,0
1 108307727 rs7528153 T A 2025.37 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.53;SNPEFF_AMINO_ACID_CHANGE=T233S;SNPEFF_CODON_CHANGE=Aca/Tca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_108307698_108307797;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VAV3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000371846 GT:AD:DP:GQ:PL 1/1:0,57:57:99:2058,150,0
1 108313258 rs6583048 C T 3345.08 PASS AC=2;AF=1.00;AN=2;DB;DP=109;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.9159;MQ=60.0;MQ0=0;QD=30.69;SNPEFF_AMINO_ACID_CHANGE=K151;SNPEFF_CODON_CHANGE=aaG/aaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_108313258_108313350;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VAV3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000371846 GT:AD:DP:GQ:PL 1/1:0,109:109:99:3345,274,0
1 108315256 rs7416884 G C 221 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.377;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.377;QD=17.0;ReadPosRankSum=-1.093;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VAV3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370056 GT:AD:DP:GQ:PL 0/1:6,7:13:99:251,0,204
1 108315305 rs4611048 C T 1369.72 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.02;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VAV3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370056 GT:AD:DP:GQ:PL 1/1:0,37:37:99:1403,108,0
1 108679532 rs17513812 C T 95.77 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.421;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.368;QD=11.97;ReadPosRankSum=-0.421;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC25A24;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264128 GT:AD:DP:GQ:PL 0/1:4,4:8:99:126,0,136
1 108681600 rs34563977 T C 146.11 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=1.031;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.466;QD=13.28;ReadPosRankSum=0.143;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC25A24;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264128 GT:AD:DP:GQ:PL 0/1:6,5:11:99:176,0,217
1 108700316 rs829002 G C 495.20 PASS AB=0.564;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.525;DB;DP=39;Dels=0.0;FS=7.066;HRun=0;HaplotypeScore=1.9707;MQ=59.41;MQ0=0;MQRankSum=-0.147;QD=12.7;ReadPosRankSum=0.411;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC25A24;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264128 GT:AD:DP:GQ:PL 0/1:22,17:39:99:525,0,761
1 108703834 rs11185293 C T 812.60 PASS AB=0.509;AC=1;AF=0.50;AN=2;BaseQRankSum=0.598;DB;DP=57;Dels=0.0;FS=2.504;HRun=1;HaplotypeScore=0.0;MQ=59.67;MQ0=0;MQRankSum=-1.27;QD=14.26;ReadPosRankSum=-1.188;SNPEFF_AMINO_ACID_CHANGE=E141;SNPEFF_CODON_CHANGE=gaG/gaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_108703804_108703915;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC25A24;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000370041 GT:AD:DP:GQ:PL 0/1:29,28:57:99:843,0,852
1 108724518 rs490680 A G 439.92 PASS AB=0.481;AC=1;AF=0.50;AN=2;BaseQRankSum=1.14;DB;DP=27;Dels=0.0;FS=6.532;HRun=1;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=-0.51;QD=16.29;ReadPosRankSum=-1.189;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC25A24;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264128 GT:AD:DP:GQ:PL 0/1:13,14:27:99:470,0,453
1 108724541 rs17514537 T C 529.71 PASS AB=0.438;AC=1;AF=0.50;AN=2;BaseQRankSum=3.02;DB;DP=32;Dels=0.0;FS=9.84;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.804;QD=16.55;ReadPosRankSum=0.057;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC25A24;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264128 GT:AD:DP:GQ:PL 0/1:14,18:32:99:560,0,460
1 108724693 rs491785 G A 512.47 PASS AB=0.485;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.431;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.09;QD=15.53;ReadPosRankSum=0.883;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC25A24;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264128 GT:AD:DP:GQ:PL 0/1:16,17:33:99:542,0,472
1 108724766 rs492601 G A 220.04 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.831;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.831;QD=18.34;ReadPosRankSum=0.831;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC25A24;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264128 GT:AD:DP:GQ:PL 0/1:5,7:12:99:250,0,170
1 108728347 rs694667 T C 141.09 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=0.831;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.244;QD=11.76;ReadPosRankSum=-0.244;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC25A24;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264128 GT:AD:DP:GQ:PL 0/1:5,7:12:99:171,0,174
1 108728484 rs862493 T C 212.22 PASS AB=0.529;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.914;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.433;QD=12.48;ReadPosRankSum=0.048;SNPEFF_AMINO_ACID_CHANGE=K73;SNPEFF_CODON_CHANGE=aaA/aaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_108728450_108728576;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC25A24;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000370041 GT:AD:DP:GQ:PL 0/1:9,8:17:99:242,0,288
1 108734993 rs521545 G C 1243.05 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.444;DB;DP=36;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.9667;MQ=59.23;MQ0=0;MQRankSum=1.059;QD=34.53;ReadPosRankSum=-0.193;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC25A24;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264128 GT:AD:DP:GQ:PL 1/1:1,35:36:74.63:1276,75,0
1 108735388 rs524504 T A 252.70 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC25A24;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264128 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:286,21,0
1 108766133 rs3870737 A G 72.02 MQFilter40 AB=0.611;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.267;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=37.1;MQ0=4;MQRankSum=-1.467;QD=4.0;ReadPosRankSum=-1.467;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370038 GT:AD:DP:GQ:PL 0/1:11,7:18:99:102,0,296
1 108766424 rs3879436 A G 750.40 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.601;DB;DP=58;Dels=0.0;FS=1.412;HRun=1;HaplotypeScore=0.0;MQ=43.93;MQ0=3;MQRankSum=-0.667;QD=12.94;ReadPosRankSum=0.632;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370038 GT:AD:DP:GQ:PL 0/1:29,29:58:99:780,0,758
1 108771524 . C T 41.51 MQFilter40;QDFilter2 AC=2;AF=1.00;AN=2;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=8.3;MQ0=29;QD=1.34;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370038 GT:AD:DP:GQ:PL 1/1:25,6:31:6.02:73,6,0
1 108921171 rs28633791 G A 107.55 MQFilter40 AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.937;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9933;MQ=29.63;MQ0=2;MQRankSum=0.55;QD=11.95;ReadPosRankSum=0.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294652 GT:AD:DP:GQ:PL 0/1:3,6:9:66.77:138,0,67
1 108994925 rs115514944 A G 481.76 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9867;MQ=25.51;MQ0=0;QD=21.9;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294652 GT:AD:DP:GQ:PL 1/1:0,21:22:56.96:515,57,0
1 108994952 rs145700606 G T 219.13 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=24.04;MQ0=2;QD=16.86;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294652 GT:AD:DP:GQ:PL 1/1:2,11:13:26.99:252,27,0
1 109013458 rs2992768 C T 48.53 MQFilter40 AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.3;DB;DP=7;Dels=0.0;FS=3.68;HRun=0;HaplotypeScore=0.0;MQ=37.62;MQ0=0;MQRankSum=-0.55;QD=6.93;ReadPosRankSum=0.55;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370040 GT:AD:DP:GQ:PL 0/1:3,4:7:54.43:79,0,54
1 109142993 rs4970790 A T 51.64 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.82;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM102B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370035 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:83,6,0
1 109155144 rs904330 G A 48.08 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.04;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM102B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370035 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
1 109159277 rs10436960 G A 86.82 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.94;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM102B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370035 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:119,9,0
1 109170746 rs2133198 C T 1100.99 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM102B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370035 GT:AD:DP:GQ:PL 1/1:0,33:33:90.27:1134,90,0
1 109254545 rs2990872 T C 1208.29 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.36;MQ0=0;QD=33.56;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FNDC7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271311 GT:AD:DP:GQ:PL 1/1:0,36:36:96.29:1241,96,0
1 109254666 rs1475694 A T 824.37 PASS AB=0.525;AC=1;AF=0.50;AN=2;BaseQRankSum=1.92;DB;DP=59;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.9995;MQ=59.68;MQ0=0;MQRankSum=-1.434;QD=13.97;ReadPosRankSum=-1.237;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FNDC7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271311 GT:AD:DP:GQ:PL 0/1:31,28:59:99:854,0,934
1 109254672 rs1475693 T C 727.29 PASS AB=0.554;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.505;DB;DP=56;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.67;MQ0=0;MQRankSum=-0.544;QD=12.99;ReadPosRankSum=-0.461;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FNDC7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271311 GT:AD:DP:GQ:PL 0/1:31,25:56:99:757,0,955
1 109260181 rs914806 A G 203.57 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.93;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FNDC7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271311 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:236,18,0
1 109260357 rs4970804 G A 2133.66 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.98;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FNDC7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271311 GT:AD:DP:GQ:PL 1/1:0,61:61:99:2167,160,0
1 109261321 . T TA 458.49 PASS AB=0.69;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.925;DP=29;FS=3.485;HRun=1;HaplotypeScore=58.188;IndelType=I;MQ=59.2;MQ0=0;MQRankSum=0.943;QD=15.81;ReadPosRankSum=-0.548;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FNDC7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271311 GT:AD:DP:GQ:PL 0/1:16,13:29:99:498,0,523
1 109265029 rs4423040 G T 2758.57 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.045;DB;DP=84;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.575;MQ=59.73;MQ0=0;MQRankSum=-0.312;QD=32.84;ReadPosRankSum=0.223;SNPEFF_AMINO_ACID_CHANGE=R224L;SNPEFF_CODON_CHANGE=cGg/cTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_109264957_109265214;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FNDC7;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000370017 GT:AD:DP:GQ:PL 1/1:2,82:84:99:2792,169,0
1 109265326 rs4970743 G C 117.84 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.46;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FNDC7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271311 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:150,12,0
1 109268441 rs11582005 G A 913.88 PASS AB=0.439;AC=1;AF=0.50;AN=2;BaseQRankSum=2.662;DB;DP=57;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.6;MQ0=0;MQRankSum=-1.857;QD=16.03;ReadPosRankSum=1.069;SNPEFF_AMINO_ACID_CHANGE=S309N;SNPEFF_CODON_CHANGE=aGt/aAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_109268372_109268626;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FNDC7;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000370017 GT:AD:DP:GQ:PL 0/1:25,32:57:99:944,0,771
1 109268573 rs4494160 T C 764.89 PASS AB=0.537;AC=1;AF=0.50;AN=2;BaseQRankSum=1.284;DB;DP=54;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9996;MQ=60.0;MQ0=0;MQRankSum=-1.214;QD=14.16;ReadPosRankSum=0.625;SNPEFF_AMINO_ACID_CHANGE=V353A;SNPEFF_CODON_CHANGE=gTc/gCc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_109268372_109268626;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FNDC7;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000370017 GT:AD:DP:GQ:PL 0/1:29,25:54:99:795,0,892
1 109270402 rs10494096 G A 817.65 PASS AB=0.66;AC=1;AF=0.50;AN=2;BaseQRankSum=2.513;DB;DP=94;Dels=0.0;FS=0.927;HRun=0;HaplotypeScore=1.9454;MQ=60.0;MQ0=0;MQRankSum=-1.193;QD=8.7;ReadPosRankSum=-0.832;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FNDC7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271311 GT:AD:DP:GQ:PL 0/1:62,32:94:99:848,0,1628
1 109271198 rs12759087 G A 233.40 PASS AB=0.294;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.793;DB;DP=17;Dels=0.0;FS=5.842;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.95;QD=13.73;ReadPosRankSum=-2.055;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FNDC7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271311 GT:AD:DP:GQ:PL 0/1:5,12:17:99:263,0,174
1 109273456 rs4970809 A G 1071.77 PASS AB=0.461;AC=1;AF=0.50;AN=2;BaseQRankSum=0.639;DB;DP=76;Dels=0.0;FS=3.064;HRun=2;HaplotypeScore=0.0;MQ=59.39;MQ0=0;MQRankSum=1.927;QD=14.1;ReadPosRankSum=1.548;SNPEFF_AMINO_ACID_CHANGE=G595;SNPEFF_CODON_CHANGE=ggA/ggG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_109273296_109273550;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FNDC7;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000370017 GT:AD:DP:GQ:PL 0/1:35,41:76:99:1102,0,1097
1 109273610 rs4970810 G A 385.06 PASS AB=0.409;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.27;DB;DP=22;Dels=0.0;FS=3.067;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.336;QD=17.5;ReadPosRankSum=-0.534;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FNDC7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271311 GT:AD:DP:GQ:PL 0/1:9,13:22:99:415,0,318
1 109299453 rs1277044 C G 166.95 PASS AB=0.684;AC=1;AF=0.50;AN=2;BaseQRankSum=1.798;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.658;QD=8.79;ReadPosRankSum=1.184;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=STXBP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469338 GT:AD:DP:GQ:PL 0/1:13,6:19:99:197,0,475
1 109301250 rs1277042 G C 558.15 PASS AB=0.58;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.985;DB;DP=50;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.197;QD=11.16;ReadPosRankSum=0.413;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=STXBP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000483586 GT:AD:DP:GQ:PL 0/1:29,21:50:99:588,0,967
1 109315211 rs1623641 A G 209.97 PASS AB=0.111;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.751;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.751;QD=23.33;ReadPosRankSum=0.751;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=STXBP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370008 GT:AD:DP:GQ:PL 0/1:1,8:9:13.62:240,0,14
1 109318805 rs1759479 C T 51.22 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.61;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=STXBP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370008 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
1 109321824 rs1759481 G T 367.55 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.298;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.42;MQ0=0;MQRankSum=-1.956;QD=11.49;ReadPosRankSum=-1.083;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=STXBP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000486601 GT:AD:DP:GQ:PL 0/1:18,14:32:99:398,0,637
1 109325436 rs1298092 T C 154.33 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.067;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.067;QD=19.29;ReadPosRankSum=1.067;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=STXBP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485167 GT:AD:DP:GQ:PL 0/1:2,6:8:52.71:184,0,53
1 109336411 rs1277016 G A 311.24 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.12;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=STXBP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000495245 GT:AD:DP:GQ:PL 1/1:0,10:10:27.06:344,27,0
1 109337572 rs1149158 A C 54.87 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.92;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.517;QD=6.86;ReadPosRankSum=-1.92;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=STXBP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000495245 GT:AD:DP:GQ:PL 0/1:5,3:8:84.87:85,0,186
1 109338861 rs1127635 G C 614.97 PASS AB=0.544;AC=1;AF=0.50;AN=2;BaseQRankSum=0.889;DB;DP=57;Dels=0.0;FS=1.11;HRun=0;HaplotypeScore=0.5784;MQ=58.86;MQ0=0;MQRankSum=-0.889;QD=10.79;ReadPosRankSum=-0.793;SNPEFF_AMINO_ACID_CHANGE=L372;SNPEFF_CODON_CHANGE=ctG/ctC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_109338856_109338994;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=STXBP3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000370008 GT:AD:DP:GQ:PL 0/1:31,26:57:99:645,0,1043
1 109340604 rs1631385 C T 247.65 PASS AB=0.524;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.852;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.11;MQ0=0;MQRankSum=0.528;QD=11.79;ReadPosRankSum=-2.852;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=STXBP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000495245 GT:AD:DP:GQ:PL 0/1:11,10:21:99:278,0,396
1 109342716 rs1277239 A G 72.24 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=0.55;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.3;QD=10.32;ReadPosRankSum=0.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=STXBP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370008 GT:AD:DP:GQ:PL 0/1:4,3:7:99:102,0,143
1 109351501 rs1149154 A G 2175.42 PASS AB=0.407;AC=1;AF=0.50;AN=2;BaseQRankSum=0.289;DB;DP=113;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.663;MQ=59.47;MQ0=0;MQRankSum=2.563;QD=19.25;ReadPosRankSum=0.669;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=STXBP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472099 GT:AD:DP:GQ:PL 0/1:46,67:113:99:2205,0,1460
1 109358755 rs113258146 A AT 892.30 PASS AB=0.684;AC=1;AF=0.50;AN=2;BaseQRankSum=-6.878;DB;DP=67;FS=1.056;HRun=7;HaplotypeScore=133.4188;IndelType=I;MQ=60.32;MQ0=0;MQRankSum=-0.443;QD=13.32;ReadPosRankSum=-0.819;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AKNAD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477908 GT:AD:DP:GQ:PL 0/1:36,31:67:99:931,0,764
1 109359490 rs1277214 A G 53.16 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AKNAD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370001 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
1 109359502 rs1277213 A G 52.28 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AKNAD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370001 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
1 109363075 rs1333128 T C 320.64 PASS AB=0.412;AC=1;AF=0.50;AN=2;BaseQRankSum=0.732;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.634;QD=18.86;ReadPosRankSum=-0.537;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AKNAD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357393 GT:AD:DP:GQ:PL 0/1:7,10:17:99:351,0,238
1 109363140 rs1333129 T C 625.53 PASS AB=0.569;AC=1;AF=0.50;AN=2;BaseQRankSum=1.515;DB;DP=51;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=59.55;MQ0=0;MQRankSum=0.616;QD=12.27;ReadPosRankSum=-1.104;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AKNAD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357393 GT:AD:DP:GQ:PL 0/1:29,22:51:99:656,0,875
1 109363232 rs1333130 T C 674.43 PASS AB=0.536;AC=1;AF=0.50;AN=2;BaseQRankSum=0.485;DB;DP=56;Dels=0.0;FS=2.454;HRun=0;HaplotypeScore=0.0;MQ=59.59;MQ0=0;MQRankSum=0.715;QD=12.04;ReadPosRankSum=1.487;SNPEFF_AMINO_ACID_CHANGE=K728;SNPEFF_CODON_CHANGE=aaA/aaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_109363167_109363248;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AKNAD1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000370001 GT:AD:DP:GQ:PL 0/1:30,26:56:99:704,0,953
1 109366286 rs7522157 C T 747.32 PASS AB=0.409;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.908;DB;DP=44;Dels=0.0;FS=9.253;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.785;QD=16.98;ReadPosRankSum=0.185;SNPEFF_AMINO_ACID_CHANGE=C361Y;SNPEFF_CODON_CHANGE=tGt/tAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_109366188_109366310;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AKNAD1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000357393 GT:AD:DP:GQ:PL 0/1:18,26:44:99:777,0,630
1 109366370 rs7522260 C T 962.18 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=40.09;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AKNAD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357393 GT:AD:DP:GQ:PL 1/1:0,24:24:72.24:995,72,0
1 109369797 rs11102506 T G 5903.61 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.67;DB;DP=172;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=5.0414;MQ=59.46;MQ0=0;MQRankSum=0.371;QD=34.32;ReadPosRankSum=1.505;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AKNAD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357393 GT:AD:DP:GQ:PL 1/1:1,171:172:99:5904,445,0
1 109369915 rs7551421 G T 4713.47 PASS AC=2;AF=1.00;AN=2;DB;DP=140;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=1.7262;MQ=59.51;MQ0=0;QD=33.67;SNPEFF_AMINO_ACID_CHANGE=N323K;SNPEFF_CODON_CHANGE=aaC/aaA;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_109369827_109369924;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AKNAD1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000357393 GT:AD:DP:GQ:PL 1/1:0,140:140:99:4713,370,0
1 109377157 rs112859436 TA T 83.88 PASS AC=2;AF=1.00;AN=2;DB;DP=7;FS=0.0;HRun=13;HaplotypeScore=23.3263;IndelType=D;MQ=56.62;MQ0=0;QD=11.98;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AKNAD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472781 GT:AD:DP:GQ:PL 1/1:0,6:7:17.82:126,18,0
1 109391486 rs1149142 G A 4601.97 PASS AC=2;AF=1.00;AN=2;DB;DP=125;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9947;MQ=59.59;MQ0=0;QD=36.82;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AKNAD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357393 GT:AD:DP:GQ:PL 1/1:0,125:125:99:4602,343,0
1 109391961 rs1277201 T G 238.62 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.83;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AKNAD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357393 GT:AD:DP:GQ:PL 1/1:0,8:8:21.07:272,21,0
1 109395105 rs1277207 C T 3312.84 PASS AC=2;AF=1.00;AN=2;DB;DP=95;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.87;SNPEFF_AMINO_ACID_CHANGE=S61N;SNPEFF_CODON_CHANGE=aGt/aAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_109394294_109395339;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AKNAD1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000369994 GT:AD:DP:GQ:PL 1/1:0,94:95:99:3313,241,0
1 109514347 rs536912 C A 167.14 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.86;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR47;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357672 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:200,15,0
1 109529322 rs78487462 T TAA 828.24 PASS AC=2;AF=1.00;AN=2;DB;DP=15;FS=0.0;HRun=1;HaplotypeScore=38.4611;IndelType=I;MQ=59.18;MQ0=0;QD=55.22;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR47;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357672 GT:AD:DP:GQ:PL 1/1:1,14:15:45.15:870,45,0
1 109534940 rs337296 G A 2238.74 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=93;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=2.6616;MQ=35.77;MQ0=18;QD=24.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR47;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357672 GT:AD:DP:GQ:PL 1/1:1,92:93:99:2272,184,0
1 109545046 rs184606 C T 338.61 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.05;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR47;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357672 GT:AD:DP:GQ:PL 1/1:0,13:13:30.08:372,30,0
1 109618257 rs673365 C T 85.76 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.59;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=TAF13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000338366 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:118,9,0
1 109637157 rs192334124 G C 475.92 PASS AB=0.457;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.017;DB;DP=35;Dels=0.0;FS=6.953;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.904;QD=13.6;ReadPosRankSum=1.772;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM167B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473828 GT:AD:DP:GQ:PL 0/1:16,19:35:99:506,0,533
1 109649162 rs62623711 G A 2026.51 PASS AB=0.51;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.374;DB;DP=156;Dels=0.0;FS=7.132;HRun=1;HaplotypeScore=1.6006;MQ=59.85;MQ0=0;MQRankSum=0.22;QD=12.99;ReadPosRankSum=-0.066;SNPEFF_AMINO_ACID_CHANGE=S106F;SNPEFF_CODON_CHANGE=tCc/tTc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_109649157_109649281;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf194;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000369945 GT:AD:DP:GQ:PL 0/1:79,76:156:99:2057,0,2610
1 109656420 rs536176 T C 100.90 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.025;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.289;QD=6.73;ReadPosRankSum=0.058;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf194;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369942 GT:AD:DP:GQ:PL 0/1:8,7:15:99:131,0,238
1 109656946 rs667524 T C 104.38 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.922;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=57.05;MQ0=0;MQRankSum=0.922;QD=13.05;ReadPosRankSum=0.198;SNPEFF_AMINO_ACID_CHANGE=H47;SNPEFF_CODON_CHANGE=caT/caC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_109656623_109656958;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA1324;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000369939 GT:AD:DP:GQ:PL 0/1:2,6:8:56.65:134,0,57
1 109704390 rs643197 C G 427.19 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.73;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA1324;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369939 GT:AD:DP:GQ:PL 1/1:0,18:18:39.11:460,39,0
1 109704618 rs678238 A G 1061.30 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.9;SNPEFF_AMINO_ACID_CHANGE=I86V;SNPEFF_CODON_CHANGE=Atc/Gtc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_109704516_109704636;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA1324;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000369939 GT:AD:DP:GQ:PL 1/1:0,28:28:84.27:1094,84,0
1 109714750 rs2297758 T C 241.73 PASS AB=0.267;AC=1;AF=0.50;AN=2;BaseQRankSum=0.354;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=0.495;QD=16.12;ReadPosRankSum=-0.778;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA1324;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000531664 GT:AD:DP:GQ:PL 0/1:4,11:15:86.79:272,0,87
1 109727475 rs649531 T C 172.19 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.7;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA1324;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369939 GT:AD:DP:GQ:PL 1/1:0,6:6:18.03:205,18,0
1 109727653 rs113927842 CT C 1214.89 PASS AB=0.679;AC=1;AF=0.50;AN=2;BaseQRankSum=6.801;DB;DP=93;FS=7.655;HRun=3;HaplotypeScore=264.8406;IndelType=D;MQ=60.17;MQ0=0;MQRankSum=1.079;QD=13.06;ReadPosRankSum=0.017;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA1324;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369939 GT:AD:DP:GQ:PL 0/1:49,44:93:99:1254,0,1748
1 109727832 rs12239854 A G 467.82 PASS AB=0.481;AC=1;AF=0.50;AN=2;BaseQRankSum=3.081;DB;DP=28;Dels=0.0;FS=3.174;HRun=0;HaplotypeScore=0.9894;MQ=60.0;MQ0=0;MQRankSum=-0.412;QD=16.71;ReadPosRankSum=0.898;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA1324;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369939 GT:AD:DP:GQ:PL 0/1:13,14:28:99:498,0,403
1 109727880 rs41279684 T C 189.02 PASS AB=0.3;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.166;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.895;QD=18.9;ReadPosRankSum=0.546;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA1324;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369939 GT:AD:DP:GQ:PL 0/1:3,7:10:95.66:219,0,96
1 109730511 rs116416309 T C 79.91 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=19.98;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA1324;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369939 GT:AD:DP:GQ:PL 0/1:1,3:4:30.19:110,0,30
1 109732387 rs17034092 G C 93.41 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.684;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=0.322;QD=11.68;ReadPosRankSum=0.684;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA1324;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369939 GT:AD:DP:GQ:PL 0/1:3,5:8:94.95:123,0,95
1 109734541 rs645128 C T 902.45 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=3.406;DB;DP=51;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.255;QD=17.7;ReadPosRankSum=1.538;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA1324;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000490758 GT:AD:DP:GQ:PL 0/1:24,27:51:99:932,0,756
1 109740306 . T TGA 465.58 PASS AB=0.594;AC=1;AF=0.50;AN=2;BaseQRankSum=0.921;DP=19;FS=0.0;HRun=0;HaplotypeScore=122.2958;IndelType=I;MQ=64.93;MQ0=0;MQRankSum=2.763;QD=24.5;ReadPosRankSum=-1.096;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA1324;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369939 GT:AD:DP:GQ:PL 0/1:6,13:19:99:505,0,164
1 109743122 rs10745351 T C 47.34 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=49.84;MQ0=0;QD=23.67;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA1324;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369939 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
1 109743167 rs17034354 A C 37.99 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.44;MQ0=0;MQRankSum=-0.736;QD=12.66;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA1324;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369939 GT:AD:DP:GQ:PL 0/1:1,2:3:33.20:68,0,33
1 109745618 rs1052878 T C 3210.03 PASS AC=2;AF=1.00;AN=2;DB;DP=97;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.6281;MQ=59.04;MQ0=0;QD=33.09;SNPEFF_AMINO_ACID_CHANGE=L1009P;SNPEFF_CODON_CHANGE=cTa/cCa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_109745566_109745851;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA1324;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000369939 GT:AD:DP:GQ:PL 1/1:0,97:97:99:3243,247,0
1 109771063 rs683182 T C 1855.28 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;QD=32.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SARS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234677 GT:AD:DP:GQ:PL 1/1:0,57:57:99:1888,135,0
1 109771881 rs657511 G T 1363.57 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.85;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SARS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234677 GT:AD:DP:GQ:PL 1/1:0,37:37:99:1397,108,0
1 109774026 rs600711 G A 86.17 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=53.95;MQ0=0;QD=21.54;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SARS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234677 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:118,9,0
1 109778577 rs658092 T C 998.23 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.59;MQ0=0;QD=30.25;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SARS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471705 GT:AD:DP:GQ:PL 1/1:0,33:33:81.23:1031,81,0
1 109779556 rs631927 T A 791.56 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.69;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SARS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471705 GT:AD:DP:GQ:PL 1/1:0,21:21:60.17:825,60,0
1 109779621 rs11439617 T TC 497.93 PASS AC=2;AF=1.00;AN=2;DB;DP=13;FS=0.0;HRun=1;HaplotypeScore=56.5643;IndelType=I;MQ=58.66;MQ0=0;QD=35.57;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SARS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471705 GT:AD:DP:GQ:PL 1/1:1,13:13:36.12:540,36,0
1 109792735 rs59201433 A ACGC 200.85 PASS AB=0.688;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.221;DB;DP=11;FS=0.0;HRun=0;HaplotypeScore=71.0166;IndelType=I;MQ=54.99;MQ0=0;MQRankSum=0.956;QD=18.26;ReadPosRankSum=0.322;SNPEFF_AMINO_ACID_CHANGE=T12TP;SNPEFF_CODON_CHANGE=acg/aCGCcg;SNPEFF_EFFECT=CODON_INSERTION;SNPEFF_EXON_ID=exon_1_109792641_109796011;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELSR2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000271332 GT:AD:DP:GQ:PL 0/1:6,5:11:87.69:240,0,88
1 109794252 rs454107 T C 845.16 PASS AB=0.558;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.029;DB;DP=77;Dels=0.0;FS=0.942;HRun=0;HaplotypeScore=0.9997;MQ=60.0;MQ0=0;MQRankSum=0.304;QD=10.98;ReadPosRankSum=-0.555;SNPEFF_AMINO_ACID_CHANGE=S517;SNPEFF_CODON_CHANGE=agT/agC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_109792641_109796011;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELSR2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000271332 GT:AD:DP:GQ:PL 0/1:43,34:77:99:875,0,1351
1 109795026 rs413380 T C 744.39 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.708;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.8928;MQ=59.42;MQ0=0;MQRankSum=0.585;QD=18.61;ReadPosRankSum=-0.154;SNPEFF_AMINO_ACID_CHANGE=Y775;SNPEFF_CODON_CHANGE=taT/taC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_109792641_109796011;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELSR2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000271332 GT:AD:DP:GQ:PL 0/1:13,26:40:99:774,0,367
1 109795608 rs437444 T C 1103.38 PASS AB=0.439;AC=1;AF=0.50;AN=2;BaseQRankSum=0.801;DB;DP=66;Dels=0.0;FS=10.648;HRun=1;HaplotypeScore=1.6483;MQ=59.65;MQ0=0;MQRankSum=-0.103;QD=16.72;ReadPosRankSum=0.401;SNPEFF_AMINO_ACID_CHANGE=F969;SNPEFF_CODON_CHANGE=ttT/ttC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_109792641_109796011;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELSR2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000271332 GT:AD:DP:GQ:PL 0/1:29,37:66:99:1133,0,865
1 109806442 rs1337248 C A 273.47 PASS AB=0.353;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.96;DB;DP=17;Dels=0.0;FS=5.653;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.96;QD=16.09;ReadPosRankSum=-1.055;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELSR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271332 GT:AD:DP:GQ:PL 0/1:6,11:17:99:303,0,202
1 109806834 rs6698843 C T 490.58 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.836;DB;DP=38;Dels=0.0;FS=13.255;HRun=0;HaplotypeScore=0.0;MQ=59.41;MQ0=0;MQRankSum=-0.015;QD=12.58;ReadPosRankSum=-0.167;SNPEFF_AMINO_ACID_CHANGE=P1712;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_109806700_109806987;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELSR2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000271332 GT:AD:DP:GQ:PL 0/1:19,19:38:99:521,0,578
1 109807099 rs6689614 G A 680.65 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=3.83;DB;DP=50;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=-0.13;QD=13.61;ReadPosRankSum=-1.41;SNPEFF_AMINO_ACID_CHANGE=P1771;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_109807076_109807250;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELSR2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000271332 GT:AD:DP:GQ:PL 0/1:25,25:50:99:711,0,732
1 109807283 rs6657811 A T 787.38 PASS AB=0.449;AC=1;AF=0.50;AN=2;BaseQRankSum=2.362;DB;DP=49;Dels=0.0;FS=1.269;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.533;QD=16.07;ReadPosRankSum=0.573;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELSR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271332 GT:AD:DP:GQ:PL 0/1:22,27:49:99:817,0,688
1 109813020 rs3895559 G A 410.71 PASS AB=0.514;AC=1;AF=0.50;AN=2;BaseQRankSum=1.099;DB;DP=36;Dels=0.0;FS=6.805;HRun=0;HaplotypeScore=1.2434;MQ=59.23;MQ0=0;MQRankSum=1.135;QD=11.41;ReadPosRankSum=-1.675;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELSR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000459940 GT:AD:DP:GQ:PL 0/1:18,17:36:99:441,0,418
1 109815074 rs79868705 G A 338.40 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.564;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.051;QD=13.02;ReadPosRankSum=0.308;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELSR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271332 GT:AD:DP:GQ:PL 0/1:13,13:26:99:368,0,413
1 109815133 rs79482788 G A 319.30 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.531;DB;DP=15;Dels=0.0;FS=2.808;HRun=0;HaplotypeScore=0.0;MQ=58.45;MQ0=0;MQRankSum=-2.021;QD=21.29;ReadPosRankSum=0.919;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELSR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271332 GT:AD:DP:GQ:PL 0/1:5,10:15:99:349,0,166
1 109815211 rs75951814 C A 124.50 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=0.717;DB;DP=11;Dels=0.0;FS=2.632;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.143;QD=11.32;ReadPosRankSum=1.031;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELSR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271332 GT:AD:DP:GQ:PL 0/1:6,5:11:99:154,0,201
1 109815214 rs113683670 T TG 144.07 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=2.219;DB;DP=10;FS=0.0;HRun=3;HaplotypeScore=53.0993;IndelType=I;MQ=60.0;MQ0=0;MQRankSum=0.361;QD=14.41;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELSR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271332 GT:AD:DP:GQ:PL 0/1:5,5:10:99:183,0,117
1 109815252 rs611917 A G 218.41 PASS AB=0.55;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.583;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=0.38;QD=10.92;ReadPosRankSum=0.152;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELSR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271332 GT:AD:DP:GQ:PL 0/1:11,9:20:99:248,0,326
1 109815368 rs6670347 T C 511.47 PASS AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.512;DB;DP=38;Dels=0.0;FS=1.494;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.892;QD=13.46;ReadPosRankSum=-0.132;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELSR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271332 GT:AD:DP:GQ:PL 0/1:20,18:38:99:541,0,686
1 109815746 rs6667814 A G 371.44 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=2.099;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.23;MQ0=0;MQRankSum=0.27;QD=12.38;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELSR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271332 GT:AD:DP:GQ:PL 0/1:16,14:30:99:401,0,507
1 109816176 rs441853 A C 238.84 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.71;SNPEFF_AMINO_ACID_CHANGE=G2876;SNPEFF_CODON_CHANGE=ggA/ggC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_109816058_109816292;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELSR2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000271332 GT:AD:DP:GQ:PL 1/1:0,11:11:24.04:272,24,0
1 109825360 rs643457 C T 1336.64 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.27;SNPEFF_EFFECT=SPLICE_SITE_ACCEPTOR;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSRC1;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000369909 GT:AD:DP:GQ:PL 1/1:0,39:39:99:1370,99,0
1 109836842 rs646335 C G 761.98 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.777;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.375;QD=26.28;ReadPosRankSum=-0.777;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MYBPHL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477962 GT:AD:DP:GQ:PL 1/1:1,28:29:23.98:795,24,0
1 109838116 rs632514 C T 73.84 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.61;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MYBPHL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357155 GT:AD:DP:GQ:PL 1/1:0,3:3:9.02:106,9,0
1 109838833 rs616899 T C 994.37 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.41;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MYBPHL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357155 GT:AD:DP:GQ:PL 1/1:0,35:35:81.24:1027,81,0
1 109838918 rs629001 C T 1824.09 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=4.2669;MQ=56.24;MQ0=0;QD=35.77;SNPEFF_AMINO_ACID_CHANGE=D269N;SNPEFF_CODON_CHANGE=Gac/Aac;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_109838856_109838992;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MYBPHL;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000357155 GT:AD:DP:GQ:PL 1/1:0,51:51:99:1857,141,0
1 109839392 rs604349 A G 996.29 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.78;MQ0=0;QD=26.22;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MYBPHL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357155 GT:AD:DP:GQ:PL 1/1:0,38:38:84.24:1029,84,0
1 109839433 rs1278285 A G 1576.70 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.16;MQ0=0;QD=28.67;SNPEFF_AMINO_ACID_CHANGE=T234;SNPEFF_CODON_CHANGE=acT/acC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_109839405_109839564;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MYBPHL;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000357155 GT:AD:DP:GQ:PL 1/1:0,54:55:99:1610,120,0
1 109839954 rs603624 G C 390.56 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.51;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MYBPHL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357155 GT:AD:DP:GQ:PL 1/1:0,11:11:33.11:424,33,0
1 109840629 rs600806 G A 243.82 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.48;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MYBPHL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357155 GT:AD:DP:GQ:PL 1/1:0,8:8:21.07:277,21,0
1 109856842 rs56356949 T TG 36.16 QDFilter2 AB=0.808;AC=1;AF=0.50;AN=2;BaseQRankSum=1.858;DB;DP=42;FS=1.971;HRun=11;HaplotypeScore=388.4775;IndelType=I;MQ=51.27;MQ0=0;MQRankSum=0.206;QD=0.86;ReadPosRankSum=-0.95;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SORT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256637 GT:AD:DP:GQ:PL 0/1:30,10:42:75.18:75,0,248
1 109883576 rs3217347 C CAT 403.08 PASS AC=2;AF=1.00;AN=2;DB;DP=8;FS=0.0;HRun=0;HaplotypeScore=18.9344;IndelType=I;MQ=59.83;MQ0=0;QD=50.39;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SORT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256637 GT:AD:DP:GQ:PL 1/1:0,7:8:24.08:445,24,0
1 109884775 rs2228604 T G 988.30 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.25;MQ0=0;QD=31.88;SNPEFF_AMINO_ACID_CHANGE=T186;SNPEFF_CODON_CHANGE=acA/acC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_109884636_109884780;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SORT1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000538502 GT:AD:DP:GQ:PL 1/1:0,31:31:84.22:1021,84,0
1 109897103 rs11142 A G 1844.64 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.399;MQ=60.0;MQ0=0;QD=29.75;SNPEFF_AMINO_ACID_CHANGE=F198;SNPEFF_CODON_CHANGE=ttT/ttC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_109896989_109897153;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SORT1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000256637 GT:AD:DP:GQ:PL 1/1:0,61:62:99:1878,141,0
1 109954355 rs11102979 C G 40.77 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=13.59;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSMA5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477897 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:72,6,0
1 109955010 rs2303875 C A 36.20 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.1;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSMA5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491287 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:67,6,0
1 109958035 rs1465607 T C 1099.68 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.3;MQ0=0;QD=33.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSMA5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271308 GT:AD:DP:GQ:PL 1/1:0,33:33:84.27:1133,84,0
1 110018148 rs530565 C T 622.16 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.84;MQ0=0;QD=31.11;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SYPL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369872 GT:AD:DP:GQ:PL 1/1:0,20:20:51.14:655,51,0
1 110037709 rs45448998 C T 1232.84 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.284;DB;DP=90;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9998;MQ=59.49;MQ0=0;MQRankSum=-0.761;QD=13.7;ReadPosRankSum=-0.393;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ATXN7L2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369869 GT:AD:DP:GQ:PL 0/1:48,42:90:99:1263,0,1489
1 110148974 rs1799875 C T 876.73 PASS AB=0.514;AC=1;AF=0.50;AN=2;BaseQRankSum=1.951;DB;DP=72;Dels=0.0;FS=0.918;HRun=0;HaplotypeScore=1.9913;MQ=60.0;MQ0=0;MQRankSum=-0.731;QD=12.18;ReadPosRankSum=-2.319;SNPEFF_AMINO_ACID_CHANGE=T182;SNPEFF_CODON_CHANGE=acG/acA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_110148930_110149058;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GNAT2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000351050 GT:AD:DP:GQ:PL 0/1:37,35:72:99:907,0,1122
1 110152598 rs144839241 TG T 1060.47 PASS AB=0.691;AC=1;AF=0.50;AN=2;BaseQRankSum=6.742;DB;DP=76;FS=1.582;HRun=2;HaplotypeScore=190.8154;IndelType=D;MQ=60.14;MQ0=0;MQRankSum=-0.921;QD=13.95;ReadPosRankSum=1.793;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GNAT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000351050 GT:AD:DP:GQ:PL 0/1:42,34:76:99:1099,0,1610
1 110155275 rs41313290 G A 434.80 PASS AB=0.235;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7803;MQ=60.0;MQ0=0;MQRankSum=0.396;QD=25.58;ReadPosRankSum=1.302;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GNAT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000351050 GT:AD:DP:GQ:PL 0/1:4,13:17:99:465,0,111
1 110168888 rs493972 C G 815.30 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.07;MQ0=0;QD=32.61;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AMPD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000528270 GT:AD:DP:GQ:PL 1/1:0,25:25:63.19:848,63,0
1 110169190 rs865774 C T 127.75 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.867;DB;DP=15;Dels=0.0;FS=9.59;HRun=1;HaplotypeScore=0.0;MQ=55.21;MQ0=0;MQRankSum=1.333;QD=8.52;ReadPosRankSum=1.2;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AMPD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000459643 GT:AD:DP:GQ:PL 0/1:9,6:15:99:158,0,293
1 110169957 rs524998 A G 1938.90 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9157;MQ=59.31;MQ0=0;QD=28.94;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AMPD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000459643 GT:AD:DP:GQ:PL 1/1:0,67:67:99:1972,159,0
1 110170896 rs863978 T C 805.36 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.07;MQ0=0;QD=32.21;SNPEFF_AMINO_ACID_CHANGE=H359;SNPEFF_CODON_CHANGE=caT/caC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_110170705_110170899;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AMPD2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000393688 GT:AD:DP:GQ:PL 1/1:0,25:25:66.19:838,66,0
1 110171705 rs523786 A C 867.98 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.17;MQ0=0;QD=31.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AMPD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000459643 GT:AD:DP:GQ:PL 1/1:0,28:28:66.22:901,66,0
1 110172346 rs5776989 T TG 1055.08 PASS AC=2;AF=1.00;AN=2;DB;DP=31;FS=0.0;HRun=5;HaplotypeScore=130.5224;IndelType=I;MQ=61.04;MQ0=0;QD=34.03;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AMPD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000459643 GT:AD:DP:GQ:PL 1/1:3,28:31:84.27:1097,84,0
1 110172362 rs2269341 C T 665.43 PASS AB=0.378;AC=1;AF=0.50;AN=2;BaseQRankSum=1.018;DB;DP=39;Dels=0.0;FS=1.478;HRun=0;HaplotypeScore=3.857;MQ=60.24;MQ0=0;MQRankSum=-0.705;QD=17.06;ReadPosRankSum=-0.454;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AMPD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000459643 GT:AD:DP:GQ:PL 0/1:14,23:39:99:695,0,408
1 110172658 rs34592756 A G 407.45 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=0.931;DB;DP=36;Dels=0.0;FS=2.083;HRun=0;HaplotypeScore=0.9469;MQ=59.36;MQ0=0;MQRankSum=1.957;QD=11.32;ReadPosRankSum=-0.963;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AMPD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000459643 GT:AD:DP:GQ:PL 0/1:21,15:36:99:437,0,711
1 110173775 rs568686 G T 73.49 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=14.7;ReadPosRankSum=-1.231;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AMPD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000459643 GT:AD:DP:GQ:PL 0/1:2,3:5:67.60:103,0,68
1 110199225 rs143325571 TG T 154.15 PASS AB=0.784;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.667;DB;DP=29;FS=0.0;HRun=10;HaplotypeScore=249.6021;IndelType=D;MQ=49.98;MQ0=0;MQRankSum=0.4;QD=5.32;ReadPosRankSum=-0.933;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GSTM4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326729 GT:AD:DP:GQ:PL 0/1:21,8:29:97.78:193,0,98
1 110201580 rs650985 C T 7108.42 PASS AC=2;AF=1.00;AN=2;DB;DP=197;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=57.38;MQ0=0;QD=36.08;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GSTM4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461767 GT:AD:DP:GQ:PL 1/1:0,197:197:99:7108,536,0
1 110201699 rs506008 T C 2803.80 PASS AB=0.504;AC=1;AF=0.50;AN=2;BaseQRankSum=3.931;DB;DP=234;DS;Dels=0.0;FS=9.581;HRun=2;HaplotypeScore=1.9459;MQ=51.29;MQ0=1;MQRankSum=-8.745;QD=11.98;ReadPosRankSum=0.117;SNPEFF_AMINO_ACID_CHANGE=F117;SNPEFF_CODON_CHANGE=ttT/ttC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_110201622_110201732;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GSTM4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000336075 GT:AD:DP:GQ:PL 0/1:118,116:234:99:2834,0,3688
1 110201809 rs562996 G T 2255.69 PASS AB=0.522;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.04;DB;DP=159;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.8136;MQ=56.12;MQ0=0;MQRankSum=-2.295;QD=14.19;ReadPosRankSum=1.426;SNPEFF_AMINO_ACID_CHANGE=S174I;SNPEFF_CODON_CHANGE=aGc/aTc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_110201622_110204364;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GSTM4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000369833 GT:AD:DP:GQ:PL 0/1:83,76:159:99:2286,0,2694
1 110201812 rs563003 A G 2270.20 PASS AB=0.513;AC=1;AF=0.50;AN=2;BaseQRankSum=5.444;DB;DP=154;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.8136;MQ=56.04;MQ0=0;MQRankSum=-0.929;QD=14.74;ReadPosRankSum=1.182;SNPEFF_AMINO_ACID_CHANGE=Y175C;SNPEFF_CODON_CHANGE=tAc/tGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_110201622_110204364;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GSTM4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000369833 GT:AD:DP:GQ:PL 0/1:79,75:154:99:2300,0,2535
1 110210780 rs530021 C G 425.98 PASS AB=0.595;AC=1;AF=0.50;AN=2;BaseQRankSum=0.603;DB;DP=37;Dels=0.0;FS=1.696;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.634;QD=11.51;ReadPosRankSum=-1.841;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GSTM4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326729 GT:AD:DP:GQ:PL 0/1:22,15:37:99:456,0,720
1 110210818 rs2073483 C T 186.90 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=1.439;DB;DP=24;Dels=0.0;FS=2.066;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=-0.153;QD=7.79;ReadPosRankSum=0.521;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GSTM4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326729 GT:AD:DP:GQ:PL 0/1:16,8:24:99:217,0,418
1 110211835 rs402505 T C 1127.83 PASS AB=0.51;AC=1;AF=0.50;AN=2;BaseQRankSum=3.374;DB;DP=102;Dels=0.0;FS=1.687;HRun=0;HaplotypeScore=2.655;MQ=45.19;MQ0=1;MQRankSum=-8.042;QD=11.06;ReadPosRankSum=-2.232;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GSTM2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481656 GT:AD:DP:GQ:PL 0/1:52,50:102:99:1158,0,1752
1 110254678 rs1758104 G T 106.98 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.74;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GSTM2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369831 GT:AD:DP:GQ:PL 1/1:0,4:4:12.02:139,12,0
1 110255174 rs929166 T G 426.80 PASS AB=0.614;AC=1;AF=0.50;AN=2;BaseQRankSum=2.174;DB;DP=57;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.9559;MQ=57.95;MQ0=0;MQRankSum=0.046;QD=7.49;ReadPosRankSum=-0.541;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GSTM2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369831 GT:AD:DP:GQ:PL 0/1:35,22:57:99:457,0,1022
1 110256548 rs190559770 A G 79.33 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.731;QD=15.87;ReadPosRankSum=-0.731;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GSTM2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369831 GT:AD:DP:GQ:PL 0/1:1,4:5:27.97:109,0,28
1 110279701 rs7483 C T 780.43 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.95;DB;DP=52;Dels=0.0;FS=4.575;HRun=0;HaplotypeScore=0.6651;MQ=59.64;MQ0=0;MQRankSum=-0.556;QD=15.01;ReadPosRankSum=0.744;SNPEFF_AMINO_ACID_CHANGE=V224I;SNPEFF_CODON_CHANGE=Gta/Ata;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_110276554_110279791;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GSTM3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000256594 GT:AD:DP:GQ:PL 0/1:26,26:52:99:810,0,812
1 110279821 rs1537234 C A 741.09 PASS AB=0.372;AC=1;AF=0.50;AN=2;BaseQRankSum=4.805;DB;DP=43;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.557;QD=17.23;ReadPosRankSum=-0.376;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GSTM3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256594 GT:AD:DP:GQ:PL 0/1:16,27:43:99:771,0,366
1 110279914 rs1571858 C T 96.87 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.597;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.29;MQ0=0;MQRankSum=0.678;QD=8.81;ReadPosRankSum=2.037;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GSTM3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256594 GT:AD:DP:GQ:PL 0/1:7,4:11:99:127,0,252
1 110281941 rs10735234 G A 771.75 PASS AB=0.552;AC=1;AF=0.50;AN=2;BaseQRankSum=5.135;DB;DP=58;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9469;MQ=60.0;MQ0=0;MQRankSum=-1.931;QD=13.31;ReadPosRankSum=0.088;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GSTM3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256594 GT:AD:DP:GQ:PL 0/1:32,26:58:99:802,0,815
1 110282972 rs1332018 G T 233.57 PASS AB=0.524;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.218;DB;DP=21;Dels=0.0;FS=2.318;HRun=0;HaplotypeScore=0.8667;MQ=57.99;MQ0=0;MQRankSum=0.106;QD=11.12;ReadPosRankSum=0.458;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_1_110282862_110283138;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GSTM3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000256594 GT:AD:DP:GQ:PL 0/1:11,10:21:99:264,0,366
1 110293989 rs45612540 A G 157.29 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=2.201;DB;DP=18;Dels=0.0;FS=6.245;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.89;QD=8.74;ReadPosRankSum=0.234;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPS8L3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475725 GT:AD:DP:GQ:PL 0/1:12,6:18:99:187,0,367
1 110294577 rs2274536 A G 278.64 PASS AB=0.567;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.272;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9578;MQ=59.23;MQ0=0;MQRankSum=0.849;QD=9.29;ReadPosRankSum=0.027;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPS8L3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361852 GT:AD:DP:GQ:PL 0/1:17,13:30:99:309,0,463
1 110295643 rs1887546 G T 68.09 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.406;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=11.35;ReadPosRankSum=0.406;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPS8L3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361852 GT:AD:DP:GQ:PL 0/1:3,3:6:98.08:98,0,99
1 110295772 rs1887547 T C 323.05 PASS AB=0.481;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.402;DB;DP=27;Dels=0.0;FS=9.204;HRun=1;HaplotypeScore=0.9332;MQ=60.0;MQ0=0;MQRankSum=-0.024;QD=11.96;ReadPosRankSum=0.655;SNPEFF_AMINO_ACID_CHANGE=S389;SNPEFF_CODON_CHANGE=tcA/tcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_110295739_110295820;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPS8L3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000361852 GT:AD:DP:GQ:PL 0/1:13,14:27:99:353,0,430
1 110299550 rs2094469 A G 1363.17 PASS AB=0.505;AC=1;AF=0.50;AN=2;BaseQRankSum=1.693;DB;DP=99;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.79;MQ=59.77;MQ0=0;MQRankSum=-0.227;QD=13.63;ReadPosRankSum=-1.05;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPS8L3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472325 GT:AD:DP:GQ:PL 0/1:50,49:99:99:1393,0,1439
1 110299691 rs11102001 G A 1280.26 PASS AB=0.449;AC=1;AF=0.50;AN=2;BaseQRankSum=1.395;DB;DP=89;Dels=0.0;FS=12.376;HRun=0;HaplotypeScore=0.0;MQ=59.74;MQ0=0;MQRankSum=-0.675;QD=14.38;ReadPosRankSum=-0.515;SNPEFF_AMINO_ACID_CHANGE=P356S;SNPEFF_CODON_CHANGE=Cca/Tca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_110299639_110299787;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPS8L3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000361852 GT:AD:DP:GQ:PL 0/1:40,49:89:99:1310,0,1224
1 110300277 rs11102002 C T 114.51 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.139;DB;DP=16;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9933;MQ=60.0;MQ0=0;MQRankSum=-0.705;QD=7.16;ReadPosRankSum=-0.054;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPS8L3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472325 GT:AD:DP:GQ:PL 0/1:10,6:16:99:144,0,358
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1 110301260 rs6693815 C T 614.80 PASS AB=0.525;AC=1;AF=0.50;AN=2;BaseQRankSum=2.037;DB;DP=61;Dels=0.0;FS=9.702;HRun=1;HaplotypeScore=0.0;MQ=59.24;MQ0=0;MQRankSum=-0.274;QD=10.08;ReadPosRankSum=-1.46;SNPEFF_AMINO_ACID_CHANGE=G163S;SNPEFF_CODON_CHANGE=Ggc/Agc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_110301146_110301285;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPS8L3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000361852 GT:AD:DP:GQ:PL 0/1:32,29:61:99:645,0,994
1 110301766 rs35360175 AGTGTGTGT A 370.42 PASS AB=0.76;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.869;DB;DP=19;FS=0.0;HRun=0;HaplotypeScore=168.6843;IndelType=D;MQ=49.29;MQ0=0;MQRankSum=0.583;QD=19.5;ReadPosRankSum=0.869;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPS8L3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472325 GT:AD:DP:GQ:PL 0/1:13,5:19:99:409,0,221
1 110304537 rs6676659 G A 39.42 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=7.88;ReadPosRankSum=0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPS8L3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361852 GT:AD:DP:GQ:PL 0/1:3,2:5:69.41:69,0,111
1 110466338 rs333970 C A 2243.36 PASS AC=2;AF=1.00;AN=2;DB;DP=69;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.73;MQ0=0;QD=32.51;SNPEFF_AMINO_ACID_CHANGE=T365;SNPEFF_CODON_CHANGE=acC/acA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_110465788_110466812;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CSF1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000329608 GT:AD:DP:GQ:PL 1/1:0,69:69:99:2276,169,0
1 110466709 rs333971 T C 1675.62 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.55;MQ0=0;QD=32.86;SNPEFF_AMINO_ACID_CHANGE=F191S;SNPEFF_CODON_CHANGE=tTc/tCc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_110466682_110466812;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CSF1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000420111 GT:AD:DP:GQ:PL 1/1:0,51:51:99:1709,129,0
1 110467745 rs333972 A G 2700.03 PASS AC=2;AF=1.00;AN=2;DB;DP=78;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=59.7;MQ0=0;QD=34.62;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CSF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000488198 GT:AD:DP:GQ:PL 1/1:0,78:78:99:2733,205,0
1 110558276 rs11384766 A AC 189.60 PASS AC=2;AF=1.00;AN=2;DB;DP=5;FS=0.0;HRun=0;HaplotypeScore=13.3355;IndelType=I;MQ=60.0;MQ0=0;QD=37.92;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AHCYL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475081 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:231,15,0
1 110589579 rs1965990 G A 47.39 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=53.95;MQ0=0;QD=11.85;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM40A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000535003 GT:AD:DP:GQ:PL 1/1:0,4:4:6.02:79,6,0
1 110716511 rs12747833 C T 296.16 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.164;DB;DP=30;Dels=0.0;FS=8.994;HRun=0;HaplotypeScore=0.0;MQ=59.23;MQ0=0;MQRankSum=-2.011;QD=9.87;ReadPosRankSum=0.064;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC6A17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331565 GT:AD:DP:GQ:PL 0/1:18,12:30:99:326,0,563
1 110735037 rs2603583 T G 89.81 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=1.034;DB;DP=11;Dels=0.0;FS=3.09;HRun=2;HaplotypeScore=0.0;MQ=55.66;MQ0=0;MQRankSum=-0.597;QD=8.16;ReadPosRankSum=0.278;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC6A17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331565 GT:AD:DP:GQ:PL 0/1:7,4:11:99:120,0,210
1 110738296 rs2784140 G A 393.04 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=1.23;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9332;MQ=60.0;MQ0=0;MQRankSum=1.416;QD=14.04;ReadPosRankSum=-0.209;SNPEFF_AMINO_ACID_CHANGE=S527;SNPEFF_CODON_CHANGE=tcG/tcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_110738208_110738367;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC6A17;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000331565 GT:AD:DP:GQ:PL 0/1:12,16:28:99:423,0,324
1 110739864 rs2761442 A G 31.17 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.72;QD=5.2;ReadPosRankSum=1.38;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC6A17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465159 GT:AD:DP:GQ:PL 0/1:4,2:6:61.16:61,0,149
1 110740688 rs2761445 C T 321.92 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=0.424;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.89;MQ0=0;MQRankSum=-0.116;QD=15.33;ReadPosRankSum=0.193;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC6A17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465159 GT:AD:DP:GQ:PL 0/1:9,12:21:99:352,0,222
1 110765535 rs611587 C G 318.11 PASS AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.725;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.711;QD=17.67;ReadPosRankSum=-1.777;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=KCNC4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369787 GT:AD:DP:GQ:PL 0/1:3,15:18:80.71:348,0,81
1 110946294 rs12135220 G A 50.63 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HBXIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256644 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
1 110950277 rs6698159 G A 548.88 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.89;SNPEFF_AMINO_ACID_CHANGE=P71L;SNPEFF_CODON_CHANGE=cCg/cTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_110950208_110950564;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HBXIP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000256644 GT:AD:DP:GQ:PL 1/1:0,19:19:45.12:582,45,0
1 110950439 rs6674775 C T 470.13 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.34;SNPEFF_AMINO_ACID_CHANGE=S17N;SNPEFF_CODON_CHANGE=aGc/aAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_110950208_110950564;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HBXIP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000256644 GT:AD:DP:GQ:PL 1/1:0,15:15:39.10:503,39,0
1 110993739 rs3806451 C A 134.78 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.198;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.495;QD=19.25;ReadPosRankSum=-0.922;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PROK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271331 GT:AD:DP:GQ:PL 0/1:2,5:7:52.25:165,0,52
1 110998665 rs7513898 G A 42.22 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=14.07;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PROK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271331 GT:AD:DP:GQ:PL 0/1:1,2:3:27.95:72,0,28
1 110998766 rs7551116 T A 326.32 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.615;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.667;QD=12.55;ReadPosRankSum=-1.487;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PROK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271331 GT:AD:DP:GQ:PL 0/1:13,13:26:99:356,0,470
1 110998854 rs7514102 G A 967.29 PASS AB=0.435;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.243;DB;DP=62;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.227;QD=15.6;ReadPosRankSum=1.093;SNPEFF_AMINO_ACID_CHANGE=V67I;SNPEFF_CODON_CHANGE=Gtc/Atc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_110998854_110999976;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PROK1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000271331 GT:AD:DP:GQ:PL 0/1:27,35:62:99:997,0,856
1 111059812 rs3841846 C CGA 377.06 PASS AB=0.697;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.605;DB;DP=23;FS=3.424;HRun=0;HaplotypeScore=68.1225;IndelType=I;MQ=60.93;MQ0=0;MQRankSum=1.747;QD=16.39;ReadPosRankSum=-0.429;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNA10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369771 GT:AD:DP:GQ:PL 0/1:12,10:23:99:416,0,339
1 111060669 rs1281175 T C 695.95 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.05;DB;DP=50;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.1567;MQ=59.54;MQ0=0;MQRankSum=0.05;QD=13.92;ReadPosRankSum=0.35;SNPEFF_AMINO_ACID_CHANGE=L247;SNPEFF_CODON_CHANGE=ctA/ctG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_111059839_111061797;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNA10;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000369771 GT:AD:DP:GQ:PL 0/1:25,25:50:99:726,0,787
1 111060752 rs34970857 C T 503.32 PASS AB=0.485;AC=1;AF=0.50;AN=2;BaseQRankSum=2.612;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9947;MQ=60.0;MQ0=0;MQRankSum=-0.919;QD=15.25;ReadPosRankSum=-0.27;SNPEFF_AMINO_ACID_CHANGE=V220M;SNPEFF_CODON_CHANGE=Gtg/Atg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_111059839_111061797;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNA10;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000369771 GT:AD:DP:GQ:PL 0/1:16,17:33:99:533,0,405
1 111061062 rs1281174 T C 1102.59 PASS AB=0.386;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.902;DB;DP=71;Dels=0.0;FS=1.002;HRun=0;HaplotypeScore=0.8321;MQ=59.68;MQ0=0;MQRankSum=-1.203;QD=15.53;ReadPosRankSum=-0.113;SNPEFF_AMINO_ACID_CHANGE=E116;SNPEFF_CODON_CHANGE=gaA/gaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_111059839_111061797;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNA10;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000369771 GT:AD:DP:GQ:PL 0/1:27,43:71:99:1133,0,806
1 111144526 rs4839071 T G 430.53 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.12;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000316361 GT:AD:DP:GQ:PL 1/1:0,13:13:36.11:464,36,0
1 111144955 rs6701118 C T 36.56 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=12.19;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000316361 GT:AD:DP:GQ:PL 0/1:1,2:3:32.73:67,0,33
1 111146220 rs78349687 C G 735.27 PASS AB=0.561;AC=1;AF=0.50;AN=2;BaseQRankSum=2.877;DB;DP=57;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=0.925;QD=12.9;ReadPosRankSum=1.01;SNPEFF_AMINO_ACID_CHANGE=A395;SNPEFF_CODON_CHANGE=gcG/gcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_111145876_111147567;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNA2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000316361 GT:AD:DP:GQ:PL 0/1:32,25:57:99:765,0,945
1 111195397 rs61803548 T C 249.35 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=42.19;MQ0=1;QD=24.93;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AL365361.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408611 GT:AD:DP:GQ:PL 1/1:0,10:10:24.06:282,24,0
1 111195566 rs35174060 ATGTGTGTGTGTGTG A 1077 PASS AC=2;AF=1.00;AN=2;DB;DP=25;FS=0.0;HRun=0;HaplotypeScore=317.7181;IndelType=D;MQ=47.21;MQ0=0;QD=43.08;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AL365361.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408611 GT:AD:DP:GQ:PL 1/1:14,8:25:33.11:1119,33,0
1 111391108 rs4021407 T G 140.24 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.22;DB;DP=18;Dels=0.0;FS=2.158;HRun=0;HaplotypeScore=0.5784;MQ=48.49;MQ0=0;MQRankSum=-3.464;QD=7.79;ReadPosRankSum=-0.439;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP11-498A13.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000432731 GT:AD:DP:GQ:PL 0/1:10,8:18:99:170,0,292
1 111391160 rs112029824 C T 279.33 MQFilter40 AB=0.567;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.434;DB;DP=30;Dels=0.0;FS=6.226;HRun=1;HaplotypeScore=0.7887;MQ=36.09;MQ0=1;MQRankSum=-2.171;QD=9.31;ReadPosRankSum=0.855;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP11-498A13.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000432731 GT:AD:DP:GQ:PL 0/1:17,13:30:99:309,0,449
1 111391381 rs6685507 A G 902.45 PASS AB=0.449;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.647;DB;DP=69;Dels=0.0;FS=4.872;HRun=0;HaplotypeScore=0.0;MQ=57.06;MQ0=0;MQRankSum=1.465;QD=13.08;ReadPosRankSum=-1.059;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP11-498A13.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000432731 GT:AD:DP:GQ:PL 0/1:31,38:69:99:932,0,940
1 111391513 rs12750061 C T 440.57 PASS AB=0.484;AC=1;AF=0.50;AN=2;BaseQRankSum=1.482;DB;DP=31;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.25;MQ0=0;MQRankSum=-1.008;QD=14.21;ReadPosRankSum=0.692;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP11-498A13.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000432731 GT:AD:DP:GQ:PL 0/1:15,16:31:99:471,0,378
1 111434778 rs112679591 C G 78.01 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.231;QD=15.6;ReadPosRankSum=-1.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CD53;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271324 GT:AD:DP:GQ:PL 0/1:2,3:5:68.60:108,0,69
1 111441858 rs12030938 G A 35.47 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.72;QD=5.91;ReadPosRankSum=1.38;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CD53;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468160 GT:AD:DP:GQ:PL 0/1:4,2:6:65.46:65,0,144
1 111661413 rs325916 T C 134.05 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=-0.533;QD=9.58;ReadPosRankSum=0.133;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DRAM2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462092 GT:AD:DP:GQ:PL 0/1:9,5:14:99:164,0,332
1 111661528 rs325917 T C 85.56 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.317;DB;DP=20;Dels=0.0;FS=5.746;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.087;QD=4.28;ReadPosRankSum=-1.397;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DRAM2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462092 GT:AD:DP:GQ:PL 0/1:15,5:20:99:116,0,459
1 111662952 rs325919 C T 47.34 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.67;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DRAM2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462092 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
1 111704013 rs143092939 TAA T 387.17 PASS AB=0.677;AC=1;AF=0.50;AN=2;BaseQRankSum=3.838;DB;DP=21;FS=0.0;HRun=2;HaplotypeScore=63.2332;IndelType=D;MQ=59.42;MQ0=0;MQRankSum=0.951;QD=18.44;ReadPosRankSum=-0.106;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CEPT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000476865 GT:AD:DP:GQ:PL 0/1:11,10:21:99:426,0,608
1 111726026 rs2243393 G A 674.90 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.716;DB;DP=44;Dels=0.0;FS=7.062;HRun=0;HaplotypeScore=0.8941;MQ=59.58;MQ0=0;MQRankSum=1.068;QD=15.34;ReadPosRankSum=2.688;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=DENND2D;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357640 GT:AD:DP:GQ:PL 0/1:22,22:44:99:705,0,746
1 111726213 rs694180 A G 1521.11 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.814;DB;DP=110;Dels=0.0;FS=8.979;HRun=1;HaplotypeScore=1.7552;MQ=59.58;MQ0=0;MQRankSum=-0.849;QD=13.83;ReadPosRankSum=-1.357;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CEPT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000483427 GT:AD:DP:GQ:PL 0/1:55,55:110:99:1551,0,1828
1 111737183 rs660173 C T 998.61 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.29;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=DENND2D;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463713 GT:AD:DP:GQ:PL 1/1:0,29:30:78.25:1032,78,0
1 111739749 rs11590991 C T 123.11 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=0.717;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.05;MQ0=0;MQRankSum=-1.932;QD=10.26;ReadPosRankSum=-0.387;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=DENND2D;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473822 GT:AD:DP:GQ:PL 0/1:7,5:12:99:153,0,174
1 111770423 rs755467 T G 358.96 PASS AB=0.519;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.752;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.412;QD=13.29;ReadPosRankSum=0.073;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHI3L2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369744 GT:AD:DP:GQ:PL 0/1:14,13:27:99:389,0,432
1 111773307 rs75230690 T C 67.22 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=11.2;ReadPosRankSum=0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHI3L2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369744 GT:AD:DP:GQ:PL 0/1:2,4:6:66.03:97,0,66
1 111778241 rs2764544 C T 2268.98 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8321;MQ=59.63;MQ0=0;QD=36.6;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHI3L2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000526684 GT:AD:DP:GQ:PL 1/1:0,62:62:99:2302,172,0
1 111778325 rs11556868 C T 648.03 PASS AB=0.529;AC=1;AF=0.50;AN=2;BaseQRankSum=1.538;DB;DP=52;Dels=0.0;FS=7.992;HRun=0;HaplotypeScore=0.0;MQ=59.56;MQ0=0;MQRankSum=0.745;QD=12.23;ReadPosRankSum=-0.217;SNPEFF_AMINO_ACID_CHANGE=A103V;SNPEFF_CODON_CHANGE=gCg/gTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_111778261_111778385;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHI3L2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000466741 GT:AD:DP:GQ:PL 0/1:27,24:52:99:678,0,829
1 111778468 rs961364 G A 482.28 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=1.517;DB;DP=35;Dels=0.0;FS=3.179;HRun=1;HaplotypeScore=1.9075;MQ=60.0;MQ0=0;MQRankSum=0.283;QD=13.78;ReadPosRankSum=-1.35;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHI3L2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000486561 GT:AD:DP:GQ:PL 0/1:15,20:35:99:512,0,458
1 111778824 rs2251608 T C 268.66 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.495;DB;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9992;MQ=59.15;MQ0=0;MQRankSum=1.051;QD=12.21;ReadPosRankSum=0.985;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHI3L2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467038 GT:AD:DP:GQ:PL 0/1:11,11:22:99:299,0,353
1 111783996 rs2494007 A G 1659.61 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.09;MQ0=0;QD=32.54;SNPEFF_AMINO_ACID_CHANGE=Q115;SNPEFF_CODON_CHANGE=caA/caG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_111783949_111784065;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHI3L2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000497220 GT:AD:DP:GQ:PL 1/1:0,51:51:99:1693,123,0
1 111784148 rs2764551 T G 406.66 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.89;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHI3L2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477185 GT:AD:DP:GQ:PL 1/1:0,12:12:33.10:440,33,0
1 111784816 rs11102221 G A 797.08 PASS AB=0.492;AC=1;AF=0.50;AN=2;BaseQRankSum=4.65;DB;DP=61;Dels=0.0;FS=1.058;HRun=2;HaplotypeScore=1.6208;MQ=59.62;MQ0=0;MQRankSum=-0.052;QD=13.07;ReadPosRankSum=-1.368;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHI3L2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477185 GT:AD:DP:GQ:PL 0/1:30,31:61:99:827,0,820
1 111826055 rs12140873 A G 2132.94 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=84;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.6553;MQ=31.13;MQ0=10;QD=25.39;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RP11-165H20.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369743 GT:AD:DP:GQ:PL 1/1:6,78:84:99:2166,189,0
1 111853174 rs56387509 C T 661.58 PASS AB=0.551;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.452;DB;DP=49;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9469;MQ=59.62;MQ0=0;MQRankSum=-0.955;QD=13.5;ReadPosRankSum=0.693;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHIA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343320 GT:AD:DP:GQ:PL 0/1:27,22:49:99:692,0,869
1 111854096 rs4839121 A G 222.24 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.75;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHIA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343320 GT:AD:DP:GQ:PL 1/1:0,7:7:21.06:255,21,0
1 111854120 rs12127313 G A 111.69 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.017;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.922;QD=13.96;ReadPosRankSum=-0.922;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHIA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343320 GT:AD:DP:GQ:PL 0/1:4,4:8:99:142,0,118
1 111854207 rs4839122 T C 2017.79 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.18;MQ0=0;QD=39.56;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHIA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343320 GT:AD:DP:GQ:PL 1/1:0,51:51:99:2051,150,0
1 111854223 rs6537695 C T 2107.95 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.25;MQ0=0;QD=37.64;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHIA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343320 GT:AD:DP:GQ:PL 1/1:0,56:56:99:2141,166,0
1 111854755 rs4423003 A C 1432.39 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.7887;MQ=59.44;MQ0=0;QD=34.94;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHIA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343320 GT:AD:DP:GQ:PL 1/1:0,41:41:99:1465,114,0
1 111857087 rs2786151 C T 438.49 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.584;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.89;MQ0=0;MQRankSum=-0.039;QD=20.88;ReadPosRankSum=0.117;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHIA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343320 GT:AD:DP:GQ:PL 0/1:6,15:21:99:468,0,191
1 111857154 rs2786152 T C 1739.59 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.5;MQ0=0;QD=34.79;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHIA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343320 GT:AD:DP:GQ:PL 1/1:0,50:50:99:1773,138,0
1 111857276 rs41391244 T C 191.66 PASS AB=0.619;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.933;DB;DP=21;Dels=0.0;FS=4.191;HRun=0;HaplotypeScore=0.9159;MQ=60.0;MQ0=0;MQRankSum=0.181;QD=9.13;ReadPosRankSum=1.123;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHIA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343320 GT:AD:DP:GQ:PL 0/1:13,8:21:99:222,0,475
1 111857951 rs61756687 A G 2482.17 PASS AB=0.439;AC=1;AF=0.50;AN=2;BaseQRankSum=1.184;DB;DP=148;Dels=0.0;FS=5.235;HRun=0;HaplotypeScore=3.1833;MQ=59.52;MQ0=0;MQRankSum=0.361;QD=16.77;ReadPosRankSum=-1.488;SNPEFF_AMINO_ACID_CHANGE=K125R;SNPEFF_CODON_CHANGE=aAa/aGa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_111857892_111858057;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHIA;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000343320 GT:AD:DP:GQ:PL 0/1:65,83:148:99:2512,0,1972
1 111858200 rs41282500 G A 32.09 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=16.04;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHIA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343320 GT:AD:DP:GQ:PL 1/1:0,2:2:6:63,6,0
1 111861714 rs2786161 T A 1063.12 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.734;MQ=59.3;MQ0=0;QD=32.22;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHIA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343320 GT:AD:DP:GQ:PL 1/1:1,32:33:84.27:1096,84,0
1 111861841 rs2275253 A G 2134.03 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.25;MQ0=0;QD=34.42;SNPEFF_AMINO_ACID_CHANGE=I178V;SNPEFF_CODON_CHANGE=Atc/Gtc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_111861742_111861861;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHIA;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000353665 GT:AD:DP:GQ:PL 1/1:0,62:62:99:2167,171,0
1 111861974 rs2275254 T C 1861.87 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=58.33;MQ0=0;QD=33.25;SNPEFF_AMINO_ACID_CHANGE=F193S;SNPEFF_CODON_CHANGE=tTt/tCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_111861949_111862090;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHIA;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000353665 GT:AD:DP:GQ:PL 1/1:0,56:56:99:1895,144,0
1 111862952 rs2256721 T G 1290.73 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.34;MQ0=0;QD=36.88;SNPEFF_AMINO_ACID_CHANGE=V271G;SNPEFF_CODON_CHANGE=gTc/gGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_111862835_111863097;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHIA;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000353665 GT:AD:DP:GQ:PL 1/1:0,35:35:99:1324,99,0
1 111890240 . C CT 741.18 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-2.1;DP=37;FS=0.0;HRun=6;HaplotypeScore=346.9953;IndelType=I;MQ=45.1;MQ0=0;MQRankSum=0.907;QD=20.03;ReadPosRankSum=-0.441;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf88;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369737 GT:AD:DP:GQ:PL 1/1:22,14:37:53.95:783,54,0
1 111890941 rs3738304 G A 241.32 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=3.165;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.715;QD=17.24;ReadPosRankSum=-0.386;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf88;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369737 GT:AD:DP:GQ:PL 0/1:6,8:14:99:271,0,176
1 111892905 rs3820443 T C 1361.84 PASS AB=0.516;AC=1;AF=0.50;AN=2;BaseQRankSum=2.861;DB;DP=91;Dels=0.0;FS=1.112;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=0.538;QD=14.97;ReadPosRankSum=-1.088;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf88;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369737 GT:AD:DP:GQ:PL 0/1:47,44:91:99:1392,0,1517
1 111892994 rs12033188 C G 309.87 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=0.099;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.352;QD=14.08;ReadPosRankSum=-1.022;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf88;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369737 GT:AD:DP:GQ:PL 0/1:12,10:22:99:340,0,416
1 111893958 rs1668 A G 694.95 PASS AB=0.35;AC=1;AF=0.50;AN=2;BaseQRankSum=0.61;DB;DP=40;Dels=0.0;FS=2.99;HRun=0;HaplotypeScore=0.0;MQ=54.58;MQ0=0;MQRankSum=2.169;QD=17.37;ReadPosRankSum=-2.056;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf88;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468395 GT:AD:DP:GQ:PL 0/1:14,26:40:99:725,0,396
1 111957097 rs7825 C G 828.83 PASS AB=0.37;AC=1;AF=0.50;AN=2;BaseQRankSum=0.048;DB;DP=46;Dels=0.0;FS=1.192;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.784;QD=18.02;ReadPosRankSum=-0.241;SNPEFF_AMINO_ACID_CHANGE=E484Q;SNPEFF_CODON_CHANGE=Gaa/Caa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_111957026_111957966;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OVGP1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000434331 GT:AD:DP:GQ:PL 0/1:17,29:46:99:859,0,503
1 111957245 rs9629 G A 828.57 PASS AB=0.431;AC=1;AF=0.50;AN=2;BaseQRankSum=4.648;DB;DP=58;Dels=0.0;FS=3.946;HRun=0;HaplotypeScore=0.9578;MQ=59.28;MQ0=0;MQRankSum=-1.492;QD=14.29;ReadPosRankSum=0.11;SNPEFF_AMINO_ACID_CHANGE=P434;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_111957026_111957966;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OVGP1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000434331 GT:AD:DP:GQ:PL 0/1:25,33:58:99:859,0,679
1 111957517 rs3767609 T C 61.32 QDFilter2 AB=0.864;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.778;DB;DP=59;Dels=0.0;FS=3.39;HRun=1;HaplotypeScore=0.0;MQ=57.61;MQ0=0;MQRankSum=-2.898;QD=1.04;ReadPosRankSum=-2.875;SNPEFF_AMINO_ACID_CHANGE=S344G;SNPEFF_CODON_CHANGE=Agt/Ggt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_111957026_111957966;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OVGP1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000434331 GT:AD:DP:GQ:PL 0/1:51,8:59:91.32:91,0,1710
1 111957583 rs1126656 A G 57.36 QDFilter2 AB=0.774;AC=1;AF=0.50;AN=2;BaseQRankSum=1.435;DB;DP=53;Dels=0.0;FS=7.583;HRun=0;HaplotypeScore=0.8941;MQ=55.49;MQ0=0;MQRankSum=-3.56;QD=1.08;ReadPosRankSum=-0.032;SNPEFF_AMINO_ACID_CHANGE=Y322H;SNPEFF_CODON_CHANGE=Tat/Cat;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_111957026_111957966;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OVGP1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000434331 GT:AD:DP:GQ:PL 0/1:41,12:53:87.36:87,0,1296
1 111957592 rs56294468 A G 97.35 QDFilter2 AB=0.769;AC=1;AF=0.50;AN=2;BaseQRankSum=2.834;DB;DP=52;Dels=0.0;FS=7.648;HRun=2;HaplotypeScore=1.8273;MQ=55.4;MQ0=0;MQRankSum=-2.813;QD=1.87;ReadPosRankSum=1.727;SNPEFF_AMINO_ACID_CHANGE=S319P;SNPEFF_CODON_CHANGE=Tct/Cct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_111957026_111957966;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OVGP1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000434331 GT:AD:DP:GQ:PL 0/1:40,12:52:99:127,0,1310
1 111957693 rs2485319 A G 649.37 PASS AB=0.559;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.009;DB;DP=59;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9989;MQ=59.61;MQ0=0;MQRankSum=-0.102;QD=11.01;ReadPosRankSum=1.024;SNPEFF_AMINO_ACID_CHANGE=M285T;SNPEFF_CODON_CHANGE=aTg/aCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_111957026_111957966;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OVGP1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000434331 GT:AD:DP:GQ:PL 0/1:33,26:59:99:679,0,966
1 111962455 rs1264881 C T 470.45 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=3.399;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.03;MQ0=0;MQRankSum=-0.894;QD=19.6;ReadPosRankSum=0.298;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OVGP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369728 GT:AD:DP:GQ:PL 0/1:9,15:24:99:500,0,250
1 111970382 rs115872070 C T 1611.91 PASS AB=0.521;AC=1;AF=0.50;AN=2;BaseQRankSum=2.554;DB;DP=146;Dels=0.0;FS=1.783;HRun=3;HaplotypeScore=2.4084;MQ=57.43;MQ0=0;MQRankSum=-0.09;QD=11.04;ReadPosRankSum=-1.32;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_1_111970319_111970399;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OVGP1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000369732 GT:AD:DP:GQ:PL 0/1:76,70:146:99:1642,0,2144
1 112020222 rs145497902 GC G 988.25 PASS AC=2;AF=1.00;AN=2;DB;DP=34;FS=0.0;HRun=6;HaplotypeScore=331.9607;IndelType=D;MQ=56.44;MQ0=0;QD=29.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf162;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343534 GT:AD:DP:GQ:PL 1/1:1,33:34:96.24:1030,96,0
1 112020238 rs2211494 A C 1431.94 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=54.36;MQ0=0;QD=31.82;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf162;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343534 GT:AD:DP:GQ:PL 1/1:0,45:45:99:1465,114,0
1 112026198 rs9025 T A 42.27 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=4.771;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=14.09;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADORA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463993 GT:AD:DP:GQ:PL 0/1:1,2:3:32.20:72,0,32
1 112026449 rs17027794 G A 113.49 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.37;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADORA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463993 GT:AD:DP:GQ:PL 1/1:0,4:4:12.03:146,12,0
1 112028515 rs72695203 T C 229.05 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.323;DB;DP=20;Dels=0.0;FS=3.245;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.852;QD=11.45;ReadPosRankSum=-0.265;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADORA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463993 GT:AD:DP:GQ:PL 0/1:10,10:20:99:259,0,342
1 112028577 rs2275796 A T 290.60 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.32;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADORA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463993 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:324,24,0
1 112029193 rs2252739 A G 1651.35 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.19;MQ0=0;QD=31.76;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADORA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463993 GT:AD:DP:GQ:PL 1/1:0,52:52:99:1684,141,0
1 112029325 rs2800906 A G 498.48 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.34;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADORA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355437 GT:AD:DP:GQ:PL 1/1:0,13:13:39.13:531,39,0
1 112033456 rs34460629 G GA 294.21 PASS AC=2;AF=1.00;AN=2;DB;DP=9;FS=0.0;HRun=3;HaplotypeScore=25.2574;IndelType=I;MQ=62.36;MQ0=0;QD=32.69;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADORA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355437 GT:AD:DP:GQ:PL 1/1:1,8:9:24.08:336,24,0
1 112042383 rs923 G A 112.85 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.57;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADORA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000486342 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:145,12,0
1 112042632 rs2229155 A G 1319.50 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.81;MQ0=0;QD=33.83;SNPEFF_AMINO_ACID_CHANGE=A299;SNPEFF_CODON_CHANGE=gcT/gcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_112042051_112043178;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADORA3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000241356 GT:AD:DP:GQ:PL 1/1:0,39:39:99:1353,105,0
1 112043328 rs2798566 T C 352.85 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=57.87;MQ0=0;QD=32.08;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADORA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000241356 GT:AD:DP:GQ:PL 1/1:0,11:11:30.09:386,30,0
1 112106342 rs1591711 C T 255.74 PASS AB=0.385;AC=1;AF=0.50;AN=2;BaseQRankSum=0.271;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.092;QD=19.67;ReadPosRankSum=-1.092;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADORA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355437 GT:AD:DP:GQ:PL 0/1:5,8:13:99:286,0,155
1 112106444 rs1591712 G A 2008.01 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.27;MQ0=0;QD=35.23;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADORA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355437 GT:AD:DP:GQ:PL 1/1:0,57:57:99:2041,153,0
1 112234068 rs506070 T A 185.71 PASS AB=0.65;AC=1;AF=0.50;AN=2;BaseQRankSum=1.585;DB;DP=20;Dels=0.0;FS=2.831;HRun=2;HaplotypeScore=0.9159;MQ=59.06;MQ0=0;MQRankSum=-1.268;QD=9.29;ReadPosRankSum=1.426;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RAP1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356415 GT:AD:DP:GQ:PL 0/1:13,7:20:99:216,0,430
1 112234084 rs10489469 G T 248.49 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.153;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9159;MQ=58.75;MQ0=0;MQRankSum=2.04;QD=16.57;ReadPosRankSum=0.209;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RAP1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356415 GT:AD:DP:GQ:PL 0/1:7,8:15:99:278,0,251
1 112240038 rs34219774 CT C 146.98 PASS AB=0.777;AC=1;AF=0.50;AN=2;BaseQRankSum=0.517;DB;DP=73;FS=0.0;HRun=14;HaplotypeScore=424.2788;IndelType=D;MQ=55.76;MQ0=0;MQRankSum=1.003;QD=2.01;ReadPosRankSum=0.441;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RAP1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356415 GT:AD:DP:GQ:PL 0/1:51,15:73:99:186,0,802
1 112251902 rs563083 C T 370.76 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.648;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.137;QD=13.24;ReadPosRankSum=0.209;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RAP1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000433097 GT:AD:DP:GQ:PL 0/1:16,12:28:99:401,0,574
1 112269872 rs197434 G A 863.45 PASS AB=0.453;AC=1;AF=0.50;AN=2;BaseQRankSum=2.12;DB;DP=53;Dels=0.0;FS=2.407;HRun=2;HaplotypeScore=0.0;MQ=59.04;MQ0=0;MQRankSum=0.688;QD=16.29;ReadPosRankSum=-0.138;SNPEFF_AMINO_ACID_CHANGE=F189;SNPEFF_CODON_CHANGE=ttC/ttT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_112269128_112270426;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C1orf183;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000444059 GT:AD:DP:GQ:PL 0/1:24,29:53:99:893,0,679
1 112298378 rs28372703 T C 574.55 PASS AB=0.459;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.088;DB;DP=37;Dels=0.0;FS=3.375;HRun=0;HaplotypeScore=0.5784;MQ=55.48;MQ0=0;MQRankSum=0.198;QD=15.53;ReadPosRankSum=-1.905;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_1_112297927_112298847;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=DDX20;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000369702 GT:AD:DP:GQ:PL 0/1:17,20:37:99:605,0,578
1 112302208 rs560170 G T 843.02 PASS AB=0.356;AC=1;AF=0.50;AN=2;BaseQRankSum=1.79;DB;DP=45;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.97;MQ0=0;MQRankSum=0.273;QD=18.73;ReadPosRankSum=1.719;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=DDX20;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369702 GT:AD:DP:GQ:PL 0/1:16,29:45:99:873,0,457
1 112302219 rs538779 G A 743.96 PASS AB=0.263;AC=1;AF=0.50;AN=2;BaseQRankSum=2.072;DB;DP=38;Dels=0.0;FS=8.059;HRun=1;HaplotypeScore=0.0;MQ=59.39;MQ0=0;MQRankSum=0.348;QD=19.58;ReadPosRankSum=-0.448;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=DDX20;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369702 GT:AD:DP:GQ:PL 0/1:10,28:38:99:774,0,301
1 112304126 rs197405 G T 34.45 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.23;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_1_112303328_112305629;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=DDX20;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000475700 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:66,6,0
1 112305406 rs78248378 TA T 213.86 PASS AB=0.707;AC=1;AF=0.50;AN=2;BaseQRankSum=0.528;DB;DP=53;FS=0.0;HRun=16;HaplotypeScore=276.5299;IndelType=D;MQ=57.34;MQ0=0;MQRankSum=0.128;QD=4.04;ReadPosRankSum=-0.043;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=DDX20;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000524894 GT:AD:DP:GQ:PL 0/1:29,18:53:99:253,0,269
1 112308953 rs197412 T C 383.88 PASS AB=0.605;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.598;DB;DP=38;Dels=0.0;FS=7.321;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.209;QD=10.1;ReadPosRankSum=0.209;SNPEFF_AMINO_ACID_CHANGE=I244T;SNPEFF_CODON_CHANGE=aTt/aCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_112308359_112310196;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=DDX20;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000475700 GT:AD:DP:GQ:PL 0/1:23,15:38:99:414,0,775
1 112308972 rs197413 G A 437.93 PASS AB=0.605;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.857;DB;DP=43;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=2.919;QD=10.18;ReadPosRankSum=-0.559;SNPEFF_AMINO_ACID_CHANGE=V250;SNPEFF_CODON_CHANGE=gtG/gtA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_112308359_112310196;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=DDX20;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000475700 GT:AD:DP:GQ:PL 0/1:26,17:43:99:468,0,861
1 112991698 rs2256883 T C 1099.93 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.25;MQ0=0;QD=35.48;SNPEFF_AMINO_ACID_CHANGE=N78;SNPEFF_CODON_CHANGE=aaT/aaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_112991564_112991794;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CTTNBP2NL;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000271277 GT:AD:DP:GQ:PL 1/1:0,31:31:84.28:1133,84,0
1 112999227 rs1175641 G A 3270.94 PASS AC=2;AF=1.00;AN=2;DB;DP=96;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.07;SNPEFF_AMINO_ACID_CHANGE=Q371;SNPEFF_CODON_CHANGE=caG/caA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_112998553_113003786;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CTTNBP2NL;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000271277 GT:AD:DP:GQ:PL 1/1:0,96:96:99:3271,253,0
1 113202417 rs2932536 G A 344.17 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.87;MQ0=0;QD=31.29;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAPZA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263168 GT:AD:DP:GQ:PL 1/1:0,11:11:27.09:377,27,0
1 113234062 . C A 103.15 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.731;QD=20.63;ReadPosRankSum=-0.731;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MOV10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465579 GT:AD:DP:GQ:PL 0/1:1,4:5:24.96:133,0,25
1 113234456 rs2932532 G A 1377.89 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.6918;MQ=60.0;MQ0=0;QD=32.81;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MOV10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465579 GT:AD:DP:GQ:PL 1/1:0,42:42:99:1411,105,0
1 113239478 rs2999158 T C 104.32 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.4105;MQ=60.0;MQ0=0;QD=20.86;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MOV10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479858 GT:AD:DP:GQ:PL 1/1:0,5:5:12.03:137,12,0
1 113242488 rs3013431 C T 4050.73 PASS AC=2;AF=1.00;AN=2;DB;DP=119;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.3548;MQ=59.81;MQ0=0;QD=34.04;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MOV10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471160 GT:AD:DP:GQ:PL 1/1:0,119:119:99:4051,301,0
1 113244433 rs2279500 T C 454.89 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.33;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MOV10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000285733 GT:AD:DP:GQ:PL 1/1:0,15:15:39.11:488,39,0
1 113246229 rs937053 T A 419.31 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.83;MQ0=0;QD=26.21;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MOV10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000285733 GT:AD:DP:GQ:PL 1/1:0,16:16:36.11:452,36,0
1 113252614 rs41310100 C A 314.81 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=55.72;MQ0=0;QD=34.98;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PPM1J;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309276 GT:AD:DP:GQ:PL 1/1:0,9:9:27.08:348,27,0
1 113254484 rs4839258 A G 83.42 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.81;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PPM1J;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000482367 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:115,9,0
1 113255389 rs10857971 C T 3513.93 PASS AC=2;AF=1.00;AN=2;DB;DP=104;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.3391;MQ=60.0;MQ0=0;QD=33.79;SNPEFF_AMINO_ACID_CHANGE=V236I;SNPEFF_CODON_CHANGE=Gtt/Att;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_113255366_113255653;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PPM1J;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000309276 GT:AD:DP:GQ:PL 1/1:0,104:104:99:3514,256,0
1 113255686 rs36095892 T TTG 158.53 PASS AB=0.833;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.356;DB;DP=30;FS=0.0;HRun=0;HaplotypeScore=113.9319;IndelType=I;MQ=57.61;MQ0=0;MQRankSum=-0.323;QD=5.28;ReadPosRankSum=-0.581;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PPM1J;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000486709 GT:AD:DP:GQ:PL 0/1:23,6:30:99:198,0,208
1 113256382 rs45492096 A C 667.96 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.81;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PPM1J;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000486709 GT:AD:DP:GQ:PL 1/1:0,21:21:63.15:701,63,0
1 113265809 . G A 42.21 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.026;QD=10.55;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM19A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361886 GT:AD:DP:GQ:PL 0/1:2,2:4:35.74:72,0,36
1 113456546 rs1049434 A T 1712.23 PASS AB=0.531;AC=1;AF=0.50;AN=2;BaseQRankSum=5.586;DB;DP=128;Dels=0.0;FS=6.697;HRun=1;HaplotypeScore=2.493;MQ=60.0;MQ0=0;MQRankSum=-0.028;QD=13.38;ReadPosRankSum=-0.984;SNPEFF_AMINO_ACID_CHANGE=D490E;SNPEFF_CODON_CHANGE=gaT/gaA;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_113454469_113456787;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC16A1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000369626 GT:AD:DP:GQ:PL 0/1:68,60:128:99:1742,0,2147
1 113616382 rs67945440 G GA 260.47 PASS AC=2;AF=1.00;AN=2;DB;DP=7;FS=0.0;HRun=2;HaplotypeScore=14.0395;IndelType=I;MQ=56.62;MQ0=0;QD=37.21;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRIG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361127 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:302,21,0
1 113636924 rs1216802 T C 813.35 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.73;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRIG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361127 GT:AD:DP:GQ:PL 1/1:0,21:21:63.21:846,63,0
1 113642699 . A G 75.30 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.358;QD=15.06;ReadPosRankSum=0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRIG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361127 GT:AD:DP:GQ:PL 0/1:2,3:5:65.39:105,0,65
1 113657092 rs1216793 A C 1881.14 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.9391;MQ=57.65;MQ0=0;QD=32.43;SNPEFF_AMINO_ACID_CHANGE=T708;SNPEFF_CODON_CHANGE=acA/acC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_113657049_113657498;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRIG2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000361127 GT:AD:DP:GQ:PL 1/1:1,57:58:99:1914,144,0
1 113658887 rs1216791 G A 925.81 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.45;MQ0=0;QD=30.86;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRIG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361127 GT:AD:DP:GQ:PL 1/1:0,30:30:72.21:959,72,0
1 113659065 rs10541977 ACT A 1328.24 PASS AC=2;AF=1.00;AN=2;DB;DP=35;FS=0.0;HRun=0;HaplotypeScore=134.9572;IndelType=D;MQ=59.65;MQ0=0;QD=37.95;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRIG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361127 GT:AD:DP:GQ:PL 1/1:3,32:35:93.31:1370,93,0
1 114133022 rs66564339 AT A 508.69 PASS AC=2;AF=1.00;AN=2;DB;DP=18;FS=0.0;HRun=7;HaplotypeScore=53.7744;IndelType=D;MQ=59.93;MQ0=0;QD=28.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAGI3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307546 GT:AD:DP:GQ:PL 1/1:0,18:18:54.12:551,54,0
1 114137013 rs10700979 C CAT 2633.79 PASS AC=2;AF=1.00;AN=2;DB;DP=50;FS=0.0;HRun=0;HaplotypeScore=116.8568;IndelType=I;MQ=61.23;MQ0=0;QD=52.68;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAGI3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307546 GT:AD:DP:GQ:PL 1/1:1,46:50:99:2676,147,0
1 114157023 rs3761931 G A 223.42 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.95;MQ0=0;QD=27.93;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAGI3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307546 GT:AD:DP:GQ:PL 1/1:0,8:8:21.06:256,21,0
1 114162194 rs1217192 G A 177.48 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.5;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAGI3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307546 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:210,15,0
1 114162619 rs1217193 C G 94.44 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.48;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAGI3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307546 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:126,9,0
1 114191994 rs1743594 G A 881.61 PASS AB=0.468;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.499;DB;DP=62;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.08;QD=14.22;ReadPosRankSum=0.123;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAGI3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307546 GT:AD:DP:GQ:PL 0/1:29,33:62:99:912,0,873
1 114196364 rs2359174 T G 70.78 PASS AB=0.737;AC=1;AF=0.50;AN=2;BaseQRankSum=0.787;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9734;MQ=60.0;MQ0=0;MQRankSum=0.139;QD=3.73;ReadPosRankSum=-0.046;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAGI3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307546 GT:AD:DP:GQ:PL 0/1:14,5:19:99:101,0,512
1 114196495 rs2359173 A G 1692.62 PASS AB=0.565;AC=1;AF=0.50;AN=2;BaseQRankSum=-7.217;DB;DP=154;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.8245;MQ=59.85;MQ0=0;MQRankSum=-0.953;QD=10.99;ReadPosRankSum=-0.592;SNPEFF_AMINO_ACID_CHANGE=T828;SNPEFF_CODON_CHANGE=acA/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_114196452_114196640;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAGI3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000307546 GT:AD:DP:GQ:PL 0/1:87,67:154:99:1723,0,2681
1 114201994 rs35373114 CTG C 157.96 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=7;FS=0.0;HRun=0;HaplotypeScore=26.0944;IndelType=D;MQ=61.53;MQ0=0;MQRankSum=-0.736;QD=22.57;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAGI3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307546 GT:AD:DP:GQ:PL 0/1:2,5:7:35.10:197,0,35
1 114215083 rs67594773 CTCTGA C 606.64 PASS AC=2;AF=1.00;AN=2;DB;DP=11;FS=0.0;HRun=0;HaplotypeScore=68.067;IndelType=D;MQ=47.05;MQ0=0;QD=55.15;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAGI3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307546 GT:AD:DP:GQ:PL 1/1:0,11:11:33.11:649,33,0
1 114223635 rs12758546 C T 79.12 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.72;QD=13.19;ReadPosRankSum=0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAGI3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307546 GT:AD:DP:GQ:PL 0/1:2,4:6:68.24:109,0,68
1 114224782 rs33933207 A AT 400.81 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.325;DB;DP=52;FS=7.132;HRun=16;HaplotypeScore=399.7708;IndelType=I;MQ=55.37;MQ0=0;MQRankSum=-0.375;QD=7.71;ReadPosRankSum=-0.825;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAGI3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307546 GT:AD:DP:GQ:PL 1/1:18,24:52:1.20:439,1,0
1 114240319 rs3835263 T TA 1431.37 PASS AC=2;AF=1.00;AN=2;DB;DP=33;FS=0.0;HRun=1;HaplotypeScore=67.8362;IndelType=I;MQ=60.65;MQ0=0;QD=43.37;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PHTF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481652 GT:AD:DP:GQ:PL 1/1:0,33:33:99:1473,99,0
1 114242250 rs3752953 C T 72.07 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.231;QD=14.41;ReadPosRankSum=0.358;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PHTF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357783 GT:AD:DP:GQ:PL 0/1:2,3:5:67.94:102,0,68
1 114249382 rs6698586 C T 1325.39 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.84;MQ0=0;QD=33.13;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PHTF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357783 GT:AD:DP:GQ:PL 1/1:0,40:40:99:1358,108,0
1 114256139 rs3789597 C T 121.43 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.731;QD=24.29;ReadPosRankSum=0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PHTF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357783 GT:AD:DP:GQ:PL 0/1:1,4:5:21.08:151,0,21
1 114267347 rs1230640 C T 1845.47 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.54;MQ0=0;QD=36.91;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PHTF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472612 GT:AD:DP:GQ:PL 1/1:0,50:50:99:1878,138,0
1 114267645 rs1981319 C A 170.86 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.17;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PHTF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472612 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:204,15,0
1 114280717 rs2273758 A C 1005.35 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.42;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PHTF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000446739 GT:AD:DP:GQ:PL 1/1:0,32:32:81.26:1038,81,0
1 114309172 rs1935836 C T 39.84 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.026;QD=9.96;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RSBN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000261441 GT:AD:DP:GQ:PL 0/1:2,2:4:69.84:70,0,71
1 114339956 rs34169583 C CTAAA 1612.99 PASS AC=2;AF=1.00;AN=2;DB;DP=22;FS=0.0;HRun=0;HaplotypeScore=69.7218;IndelType=I;MQ=53.29;MQ0=0;QD=73.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RSBN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000261441 GT:AD:DP:GQ:PL 1/1:2,19:22:63.22:1655,63,0
1 114354654 rs3195954 T C 205.15 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.278;DB;DP=12;Dels=0.0;FS=4.393;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=17.1;ReadPosRankSum=0.896;SNPEFF_AMINO_ACID_CHANGE=P127;SNPEFF_CODON_CHANGE=ccA/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_114354332_114355098;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RSBN1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000261441 GT:AD:DP:GQ:PL 0/1:5,7:12:99:235,0,121
1 114354942 rs3789604 T G 598.01 PASS AB=0.355;AC=1;AF=0.50;AN=2;BaseQRankSum=1.815;DB;DP=31;Dels=0.0;FS=5.444;HRun=0;HaplotypeScore=0.9665;MQ=57.73;MQ0=0;MQRankSum=0.024;QD=19.29;ReadPosRankSum=0.448;SNPEFF_AMINO_ACID_CHANGE=R31;SNPEFF_CODON_CHANGE=cgA/cgC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_114354332_114355098;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RSBN1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000261441 GT:AD:DP:GQ:PL 0/1:11,20:31:99:628,0,222
1 114357750 rs1217413 G A 93.25 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.08;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPN22;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420377 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:125,9,0
1 114372332 rs67670581 TA T 1010.05 PASS AB=0.644;AC=1;AF=0.50;AN=2;BaseQRankSum=3.226;DB;DP=112;FS=1.718;HRun=12;HaplotypeScore=375.1747;IndelType=D;MQ=60.16;MQ0=0;MQRankSum=1.216;QD=9.02;ReadPosRankSum=0.876;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPN22;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354605 GT:AD:DP:GQ:PL 0/1:50,60:112:99:1049,0,868
1 114372528 rs3761935 T G 412.60 PASS AB=0.531;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.076;DB;DP=32;Dels=0.0;FS=5.748;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.113;QD=12.89;ReadPosRankSum=-0.491;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPN22;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354605 GT:AD:DP:GQ:PL 0/1:17,15:32:99:443,0,608
1 114377093 rs1599971 A G 1496.01 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.505;DB;DP=49;Dels=0.0;FS=6.021;HRun=1;HaplotypeScore=0.9999;MQ=60.0;MQ0=0;MQRankSum=0.65;QD=29.92;ReadPosRankSum=1.516;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPN22;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354605 GT:AD:DP:GQ:PL 1/1:1,48:49:81.62:1529,82,0
1 114377568 rs2476601 A G 2895.44 PASS AC=2;AF=1.00;AN=2;DB;DP=93;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=59.75;MQ0=0;QD=31.13;SNPEFF_AMINO_ACID_CHANGE=W376R;SNPEFF_CODON_CHANGE=Tgg/Cgg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_114377532_114377615;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPN22;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000538253 GT:AD:DP:GQ:PL 1/1:0,93:93:99:2928,220,0
1 114400195 rs112628093 G GA 137.33 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=0.965;DB;DP=15;FS=0.0;HRun=10;HaplotypeScore=58.1864;IndelType=I;MQ=59.91;MQ0=0;MQRankSum=0.193;QD=9.16;ReadPosRankSum=-1.739;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPN22;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000529045 GT:AD:DP:GQ:PL 0/1:6,8:15:99:176,0,106
1 114401231 rs1217418 A G 227.09 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=1.092;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.45;MQ0=0;MQRankSum=-1.256;QD=15.14;ReadPosRankSum=0.533;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPN22;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000529045 GT:AD:DP:GQ:PL 0/1:5,10:15:99:257,0,153
1 114401904 rs1217419 T G 1504.67 PASS AB=0.473;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.296;DB;DP=93;Dels=0.0;FS=7.315;HRun=3;HaplotypeScore=0.734;MQ=59.75;MQ0=0;MQRankSum=0.142;QD=16.18;ReadPosRankSum=1.389;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPN22;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354605 GT:AD:DP:GQ:PL 0/1:44,49:93:99:1535,0,1437
1 114424601 rs1217381 C T 1048.27 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.82;SNPEFF_AMINO_ACID_CHANGE=D90N;SNPEFF_CODON_CHANGE=Gac/Aac;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_114424395_114424619;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=BCL2L15;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000393316 GT:AD:DP:GQ:PL 1/1:0,31:31:81.27:1081,81,0
1 114442355 rs3838300 C CA 492.07 PASS AB=0.642;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.333;DB;DP=34;FS=0.0;HRun=9;HaplotypeScore=82.322;IndelType=I;MQ=60.32;MQ0=0;MQRankSum=-0.31;QD=14.47;ReadPosRankSum=-0.382;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AP4B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369564 GT:AD:DP:GQ:PL 0/1:15,19:34:99:531,0,266
1 114443035 rs3789613 C G 451.44 PASS AB=0.514;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.446;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=-1.832;QD=12.54;ReadPosRankSum=0.545;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AP4B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256658 GT:AD:DP:GQ:PL 0/1:18,17:36:99:481,0,620
1 114443899 rs17464525 G A 579.36 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=0.2;DB;DP=54;Dels=0.0;FS=2.369;HRun=0;HaplotypeScore=0.0;MQ=59.57;MQ0=0;MQRankSum=1.14;QD=10.73;ReadPosRankSum=-2.028;SNPEFF_AMINO_ACID_CHANGE=G117;SNPEFF_CODON_CHANGE=ggC/ggT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_114443858_114444005;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AP4B1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000369564 GT:AD:DP:GQ:PL 0/1:30,24:54:99:609,0,796
1 114447034 rs6661817 G C 55.98 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=0.231;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.33;MQ0=0;MQRankSum=-0.386;QD=4.0;ReadPosRankSum=0.077;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AP4B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256658 GT:AD:DP:GQ:PL 0/1:9,5:14:85.98:86,0,336
1 114504860 rs41302825 G A 192.60 PASS AB=0.688;AC=1;AF=0.50;AN=2;BaseQRankSum=1.809;DB;DP=32;Dels=0.0;FS=2.722;HRun=2;HaplotypeScore=2.4258;MQ=59.28;MQ0=0;MQRankSum=-0.427;QD=6.02;ReadPosRankSum=-1.159;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HIPK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340480 GT:AD:DP:GQ:PL 0/1:22,10:32:99:223,0,791
1 114505000 rs17852555 G A 751.25 PASS AB=0.472;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.86;DB;DP=53;Dels=0.0;FS=22.332;HRun=1;HaplotypeScore=1.8938;MQ=58.68;MQ0=0;MQRankSum=-0.579;QD=14.17;ReadPosRankSum=-0.401;SNPEFF_AMINO_ACID_CHANGE=P287;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_114504939_114505060;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HIPK1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000369553 GT:AD:DP:GQ:PL 0/1:25,28:53:99:781,0,902
1 114512939 rs3811018 A T 734.85 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.68;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HIPK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340480 GT:AD:DP:GQ:PL 1/1:0,19:19:57.19:768,57,0
1 114515717 rs2358996 G A 2565.97 PASS AB=0.485;AC=1;AF=0.50;AN=2;BaseQRankSum=2.122;DB;DP=172;Dels=0.0;FS=0.661;HRun=0;HaplotypeScore=4.1414;MQ=59.19;MQ0=0;MQRankSum=-0.033;QD=14.92;ReadPosRankSum=-1.357;SNPEFF_AMINO_ACID_CHANGE=A1027;SNPEFF_CODON_CHANGE=gcG/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_114515646_114520422;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HIPK1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000369554 GT:AD:DP:GQ:PL 0/1:83,88:172:99:2596,0,2171
1 114522285 rs12728679 A G 496.50 PASS AB=0.346;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.97;DB;DP=26;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.11;MQ0=0;MQRankSum=0.701;QD=19.1;ReadPosRankSum=-1.294;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HIPK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340480 GT:AD:DP:GQ:PL 0/1:9,17:26:99:526,0,297
1 114636226 rs1079093 C T 72.50 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.406;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.406;QD=10.36;ReadPosRankSum=-0.406;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SYT6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369545 GT:AD:DP:GQ:PL 0/1:3,4:7:99:102,0,104
1 114641685 rs2774285 A G 1020.48 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.01;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SYT6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369545 GT:AD:DP:GQ:PL 1/1:0,34:34:84.23:1053,84,0
1 114680540 rs17032441 C T 531.63 PASS AB=0.604;AC=1;AF=0.50;AN=2;BaseQRankSum=2.574;DB;DP=53;Dels=0.0;FS=2.407;HRun=0;HaplotypeScore=0.9947;MQ=59.21;MQ0=0;MQRankSum=-1.473;QD=10.03;ReadPosRankSum=0.504;SNPEFF_AMINO_ACID_CHANGE=S131;SNPEFF_CODON_CHANGE=tcG/tcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_114680117_114680675;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SYT6;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000369546 GT:AD:DP:GQ:PL 0/1:32,21:53:99:562,0,851
1 114682445 rs149181288 G A 149.51 QDFilter2 AB=0.644;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.465;DB;DP=87;Dels=0.0;FS=0.874;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.899;QD=1.72;ReadPosRankSum=1.752;SNPEFF_AMINO_ACID_CHANGE=P102S;SNPEFF_CODON_CHANGE=Ccc/Tcc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_114682237_114682585;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SYT6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000369545 GT:AD:DP:GQ:PL 0/1:56,31:87:99:180,0,1760
1 114682446 rs151312827 G A 141.57 QDFilter2 AB=0.648;AC=1;AF=0.50;AN=2;BaseQRankSum=1.115;DB;DP=88;Dels=0.0;FS=1.876;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.935;QD=1.61;ReadPosRankSum=1.826;SNPEFF_AMINO_ACID_CHANGE=P101;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_114682237_114682585;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SYT6;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000369545 GT:AD:DP:GQ:PL 0/1:57,31:88:99:172,0,1826
1 114682780 rs2774303 G C 49.05 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.53;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SYT6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369545 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:80,6,0
1 114940632 rs71580616 CA C 1615.20 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.36;DB;DP=110;FS=0.0;HRun=12;HaplotypeScore=397.14;IndelType=D;MQ=60.07;MQ0=0;MQRankSum=0.436;QD=14.68;ReadPosRankSum=-0.316;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRIM33;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358465 GT:AD:DP:GQ:PL 1/1:23,81:110:99:1657,177,0
1 114947935 rs1230795 G A 947.99 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.11;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRIM33;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358465 GT:AD:DP:GQ:PL 1/1:0,27:27:75.22:981,75,0
1 114948281 rs6537825 A G 3381.20 PASS AC=2;AF=1.00;AN=2;DB;DP=101;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.0456;MQ=60.0;MQ0=0;QD=33.48;SNPEFF_AMINO_ACID_CHANGE=I472T;SNPEFF_CODON_CHANGE=aTt/aCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_114948032_114948381;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRIM33;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000450349 GT:AD:DP:GQ:PL 1/1:1,99:101:99:3381,247,0
1 115110683 rs8128 A C 4068.82 PASS AC=2;AF=1.00;AN=2;DB;DP=120;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9159;MQ=60.0;MQ0=0;QD=33.91;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BCAS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485021 GT:AD:DP:GQ:PL 1/1:0,120:120:99:4069,301,0
1 115119392 rs41274118 T C 326.36 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=1.812;DB;DP=21;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=-0.32;QD=15.54;ReadPosRankSum=-0.249;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BCAS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369541 GT:AD:DP:GQ:PL 0/1:9,12:21:99:356,0,279
1 115123747 rs1564824 A G 323.21 PASS AB=0.389;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.811;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=17.96;ReadPosRankSum=-0.996;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DENND2C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369540 GT:AD:DP:GQ:PL 0/1:7,11:18:99:353,0,241
1 115128087 rs222493 A G 37 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.026;QD=9.25;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DENND2C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000393277 GT:AD:DP:GQ:PL 0/1:2,2:4:66.99:67,0,70
1 115130353 rs61000990 C T 418.53 PASS AB=0.628;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.425;DB;DP=43;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.9665;MQ=59.57;MQ0=0;MQRankSum=-0.515;QD=9.73;ReadPosRankSum=2.575;SNPEFF_AMINO_ACID_CHANGE=R772;SNPEFF_CODON_CHANGE=cgG/cgA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_115130337_115130573;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DENND2C;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000393277 GT:AD:DP:GQ:PL 0/1:27,16:43:99:449,0,923
1 115137057 rs74115250 C A 781.28 PASS AB=0.396;AC=1;AF=0.50;AN=2;BaseQRankSum=0.488;DB;DP=48;Dels=0.0;FS=1.768;HRun=2;HaplotypeScore=0.6651;MQ=58.73;MQ0=0;MQRankSum=-0.011;QD=16.28;ReadPosRankSum=0.206;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DENND2C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369540 GT:AD:DP:GQ:PL 0/1:19,29:48:99:811,0,543
1 115137247 rs74115251 G A 320.31 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.039;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.347;QD=16.02;ReadPosRankSum=0.193;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DENND2C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369540 GT:AD:DP:GQ:PL 0/1:8,12:20:99:350,0,275
1 115144703 rs28398 A G 762.07 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.29;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DENND2C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369540 GT:AD:DP:GQ:PL 1/1:0,21:21:57.19:795,57,0
1 115164554 rs56861557 C T 1273.35 PASS AB=0.489;AC=1;AF=0.50;AN=2;BaseQRankSum=1.504;DB;DP=89;Dels=0.0;FS=1.784;HRun=0;HaplotypeScore=1.7998;MQ=59.48;MQ0=0;MQRankSum=-0.017;QD=14.31;ReadPosRankSum=0.873;SNPEFF_AMINO_ACID_CHANGE=G397S;SNPEFF_CODON_CHANGE=Ggt/Agt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_115164516_115164686;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DENND2C;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000369540 GT:AD:DP:GQ:PL 0/1:43,45:89:99:1303,0,1257
1 115220420 rs72459409 CTCCT C 235.29 PASS AB=0.793;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.016;DB;DP=22;FS=0.0;HRun=0;HaplotypeScore=157.473;IndelType=D;MQ=52.21;MQ0=0;MQRankSum=0.935;QD=10.23;ReadPosRankSum=1.954;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AMPD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000353928 GT:AD:DP:GQ:PL 0/1:17,6:22:99:274,0,249
1 115222434 rs761755 G A 426.98 PASS AB=0.517;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.938;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9867;MQ=60.0;MQ0=0;MQRankSum=0.109;QD=14.72;ReadPosRankSum=1.069;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AMPD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000353928 GT:AD:DP:GQ:PL 0/1:15,14:29:99:457,0,525
1 115231254 rs61752479 G A 940.59 PASS AB=0.418;AC=1;AF=0.50;AN=2;BaseQRankSum=3.353;DB;DP=55;Dels=0.0;FS=5.672;HRun=0;HaplotypeScore=0.9997;MQ=59.16;MQ0=0;MQRankSum=0.316;QD=17.1;ReadPosRankSum=-1.612;SNPEFF_AMINO_ACID_CHANGE=P48L;SNPEFF_CODON_CHANGE=cCg/cTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_115231182_115231362;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AMPD1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000353928 GT:AD:DP:GQ:PL 0/1:23,32:55:99:971,0,717
1 115236057 rs17602729 G A 873.40 PASS AB=0.537;AC=1;AF=0.50;AN=2;BaseQRankSum=1.075;DB;DP=67;Dels=0.0;FS=6.713;HRun=0;HaplotypeScore=0.9999;MQ=59.66;MQ0=0;MQRankSum=-0.17;QD=13.04;ReadPosRankSum=-0.509;SNPEFF_AMINO_ACID_CHANGE=Q12*;SNPEFF_CODON_CHANGE=Caa/Taa;SNPEFF_EFFECT=STOP_GAINED;SNPEFF_EXON_ID=exon_1_115236057_115236068;SNPEFF_FUNCTIONAL_CLASS=NONSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AMPD1;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000353928 GT:AD:DP:GQ:PL 0/1:36,31:67:99:903,0,1114
1 115238016 rs72093075 CA C 146.95 QDFilter2 AB=0.772;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.111;DB;DP=95;FS=3.913;HRun=15;HaplotypeScore=762.654;IndelType=D;MQ=52.97;MQ0=0;MQRankSum=2.821;QD=1.55;ReadPosRankSum=2.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AMPD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000353928 GT:AD:DP:GQ:PL 0/1:52,23:95:99:186,0,609
1 115238031 . AC A 287.36 PASS AB=0.94;AC=1;AF=0.50;AN=2;BaseQRankSum=3.99;DP=109;FS=58.179;HRun=1;HaplotypeScore=764.6334;IndelType=D;MQ=53.69;MQ0=0;MQRankSum=0.136;QD=2.64;ReadPosRankSum=-0.931;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AMPD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000353928 GT:AD:DP:GQ:PL 0/1:102,7:109:99:326,0,1188
1 115256669 rs969273 G A 450.57 PASS AB=0.595;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.872;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.16;QD=12.18;ReadPosRankSum=1.036;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CSDE1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000261443 GT:AD:DP:GQ:PL 0/1:22,15:37:99:481,0,789
1 115258830 . C G 37.30 QDFilter2 AB=0.694;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.694;DP=49;Dels=0.0;FS=3.01;HRun=2;HaplotypeScore=11.044;MQ=58.09;MQ0=0;MQRankSum=-0.548;QD=0.76;ReadPosRankSum=0.986;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CSDE1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000261443 GT:AD:DP:GQ:PL 0/1:34,15:49:67.29:67,0,434
1 115398044 rs67869391 GC G 995.63 PASS AC=2;AF=1.00;AN=2;DB;DP=38;FS=0.0;HRun=7;HaplotypeScore=115.7506;IndelType=D;MQ=61.41;MQ0=0;QD=26.2;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SYCP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369518 GT:AD:DP:GQ:PL 1/1:2,36:38:99:1038,102,0
1 115399940 rs360614 T G 382.40 PASS AB=0.458;AC=1;AF=0.50;AN=2;BaseQRankSum=1.68;DB;DP=24;Dels=0.0;FS=1.81;HRun=1;HaplotypeScore=0.9665;MQ=53.95;MQ0=0;MQRankSum=-0.811;QD=15.93;ReadPosRankSum=0.232;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SYCP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369518 GT:AD:DP:GQ:PL 0/1:11,13:24:99:412,0,314
1 115401136 rs360615 G A 1286.18 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9832;MQ=59.38;MQ0=0;QD=34.76;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SYCP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369518 GT:AD:DP:GQ:PL 1/1:0,37:37:99:1319,99,0
1 115420905 rs360636 T C 117.68 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.359;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=60.0;MQ0=0;MQRankSum=-0.466;QD=10.7;ReadPosRankSum=1.749;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SYCP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477215 GT:AD:DP:GQ:PL 0/1:6,5:11:99:148,0,169
1 115488821 rs360674 C T 176.07 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.652;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.209;QD=11.74;ReadPosRankSum=-0.772;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SYCP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000482717 GT:AD:DP:GQ:PL 0/1:7,8:15:99:206,0,242
1 115524216 rs12026343 C T 376.77 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.68;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SYCP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000455987 GT:AD:DP:GQ:PL 1/1:0,10:10:30.10:410,30,0
1 115576023 rs10776792 A G 2407.47 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.5983;MQ=59.66;MQ0=0;QD=35.4;SNPEFF_AMINO_ACID_CHANGE=T14A;SNPEFF_CODON_CHANGE=Aca/Gca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_115575983_115576145;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TSHB;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000256592 GT:AD:DP:GQ:PL 1/1:0,68:68:99:2440,178,0
1 115576482 rs28566771 C G 524.17 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.83;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TSHB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256592 GT:AD:DP:GQ:PL 1/1:0,17:17:48.11:557,48,0
1 115601615 rs7523818 A G 2240.50 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.3;MQ0=0;QD=33.95;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TSPAN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369514 GT:AD:DP:GQ:PL 1/1:0,66:66:99:2274,169,0
1 115603340 rs6537853 C G 87.10 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.03;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TSPAN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369514 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:119,9,0
1 115615358 rs753189 T C 37.98 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.026;QD=9.5;ReadPosRankSum=1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TSPAN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369514 GT:AD:DP:GQ:PL 0/1:2,2:4:62.96:68,0,63
1 115631924 rs4240540 C T 84.99 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TSPAN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369514 GT:AD:DP:GQ:PL 1/1:0,5:5:9.03:117,9,0
1 115829313 rs6330 G A 367.64 PASS AB=0.552;AC=1;AF=0.50;AN=2;BaseQRankSum=0.636;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.2;MQ0=0;MQRankSum=-0.592;QD=12.68;ReadPosRankSum=-0.066;SNPEFF_AMINO_ACID_CHANGE=A35V;SNPEFF_CODON_CHANGE=gCc/gTc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_115828539_115829428;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NGF;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000369512 GT:AD:DP:GQ:PL 0/1:16,13:29:99:398,0,513
1 116224792 rs10923175 C T 37.27 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.727;QD=9.32;ReadPosRankSum=-0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VANGL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310260 GT:AD:DP:GQ:PL 0/1:1,3:4:33.98:67,0,34
1 116224925 rs10923176 G A 408.71 PASS AB=0.35;AC=1;AF=0.50;AN=2;BaseQRankSum=3.407;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.872;QD=20.44;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VANGL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310260 GT:AD:DP:GQ:PL 0/1:7,13:20:99:439,0,173
1 116224940 rs10754330 C A 497.93 PASS AB=0.345;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.528;DB;DP=29;Dels=0.0;FS=8.741;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.757;QD=17.17;ReadPosRankSum=0.206;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VANGL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310260 GT:AD:DP:GQ:PL 0/1:10,19:29:99:528,0,319
1 116225180 rs10923177 A C 539.18 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.746;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.643;QD=19.97;ReadPosRankSum=-1.312;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VANGL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310260 GT:AD:DP:GQ:PL 0/1:9,18:27:99:569,0,262
1 116226459 rs12144356 C T 110.79 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.143;DB;DP=15;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=56.85;MQ0=0;MQRankSum=0.919;QD=7.39;ReadPosRankSum=-0.796;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VANGL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310260 GT:AD:DP:GQ:PL 0/1:10,5:15:99:141,0,330
1 116228220 rs12145661 C T 105.87 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.45;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.336;QD=10.59;ReadPosRankSum=-1.668;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VANGL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474344 GT:AD:DP:GQ:PL 0/1:5,5:10:99:136,0,156
1 116243868 rs28730711 A G 249.14 PASS AB=0.607;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.788;DB;DP=28;Dels=0.0;FS=3.565;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.035;QD=8.9;ReadPosRankSum=2.07;SNPEFF_AMINO_ACID_CHANGE=D327;SNPEFF_CODON_CHANGE=gaT/gaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_116243653_116244047;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CASQ2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000456138 GT:AD:DP:GQ:PL 0/1:17,11:28:99:279,0,545
1 116283343 rs9428083 A G 707.56 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CASQ2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000261448 GT:AD:DP:GQ:PL 1/1:0,20:20:57.17:741,57,0
1 116283526 rs7538337 G A 170.69 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CASQ2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000261448 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:203,15,0
1 116311198 rs4074537 T C 585.10 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.42;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_1_116310929_116311402;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CASQ2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000261448 GT:AD:DP:GQ:PL 1/1:0,17:17:51.16:618,51,0
1 116534852 rs4046190 C T 283 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.44;SNPEFF_AMINO_ACID_CHANGE=S96;SNPEFF_CODON_CHANGE=tcC/tcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_116534652_116534864;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC22A15;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000369502 GT:AD:DP:GQ:PL 1/1:0,9:9:24.08:316,24,0
1 116569530 rs2488429 G C 6084.29 PASS AC=2;AF=1.00;AN=2;DB;DP=178;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;QD=34.18;SNPEFF_AMINO_ACID_CHANGE=L205;SNPEFF_CODON_CHANGE=ctG/ctC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_116569514_116569643;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC22A15;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000369502 GT:AD:DP:GQ:PL 1/1:0,178:178:99:6084,445,0
1 116574306 rs6666101 G A 283.64 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.648;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.591;QD=18.91;ReadPosRankSum=-1.355;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC22A15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369503 GT:AD:DP:GQ:PL 0/1:6,9:15:99:314,0,190
1 116577981 rs1935828 G A 1930.39 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.87;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC22A15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369502 GT:AD:DP:GQ:PL 1/1:0,57:57:99:1963,141,0
1 116579779 rs17035177 C T 120.21 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.309;DB;DP=13;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=58.2;MQ0=0;MQRankSum=1.977;QD=9.25;ReadPosRankSum=0.135;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC22A15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369503 GT:AD:DP:GQ:PL 0/1:8,5:13:99:150,0,251
1 116607254 rs1281748 G T 575.34 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC22A15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369503 GT:AD:DP:GQ:PL 1/1:0,15:15:45.15:608,45,0
1 116609126 rs148525183 TC T 137.80 PASS AB=0.771;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.572;DB;DP=27;FS=1.958;HRun=4;HaplotypeScore=119.9552;IndelType=D;MQ=59.14;MQ0=0;MQRankSum=-0.817;QD=5.1;ReadPosRankSum=0.514;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC22A15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369503 GT:AD:DP:GQ:PL 0/1:19,8:27:99:177,0,675
1 116609185 rs3748742 G A 593.54 PASS AB=0.474;AC=1;AF=0.50;AN=2;BaseQRankSum=3.055;DB;DP=38;Dels=0.0;FS=1.342;HRun=0;HaplotypeScore=0.0;MQ=59.39;MQ0=0;MQRankSum=-1.038;QD=15.62;ReadPosRankSum=-0.57;SNPEFF_AMINO_ACID_CHANGE=T470;SNPEFF_CODON_CHANGE=acG/acA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_116609141_116609329;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC22A15;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000369503 GT:AD:DP:GQ:PL 0/1:18,20:38:99:624,0,491
1 116609833 rs3748741 G A 69.52 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.937;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.55;QD=9.93;ReadPosRankSum=0.55;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC22A15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369503 GT:AD:DP:GQ:PL 0/1:4,3:7:99:100,0,126
1 116666569 rs960675 T A 77.17 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.988;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.537;QD=12.86;ReadPosRankSum=-0.988;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAB21L3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369500 GT:AD:DP:GQ:PL 0/1:3,3:6:99:107,0,108
1 116670774 rs10754431 A G 645.57 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.88;DB;DP=44;Dels=0.0;FS=6.673;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.082;QD=14.67;ReadPosRankSum=-1.397;SNPEFF_AMINO_ACID_CHANGE=G223;SNPEFF_CODON_CHANGE=ggA/ggG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_116670766_116670960;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAB21L3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000369500 GT:AD:DP:GQ:PL 0/1:22,22:44:99:676,0,710
1 116676035 rs10802159 A C 351.31 PASS AB=0.389;AC=1;AF=0.50;AN=2;BaseQRankSum=0.815;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.25;MQ0=0;MQRankSum=-0.091;QD=18.49;ReadPosRankSum=-0.996;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAB21L3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369500 GT:AD:DP:GQ:PL 0/1:7,11:19:99:381,0,226
1 116932563 rs850609 T A 40.43 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.026;QD=10.11;ReadPosRankSum=-1.026;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP1A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369494 GT:AD:DP:GQ:PL 0/1:2,2:4:63.16:70,0,63
1 116952527 rs2269975 C T 60.66 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.16;MQ0=0;MQRankSum=1.231;QD=12.13;ReadPosRankSum=-1.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ATP1A1OS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369491 GT:AD:DP:GQ:PL 0/1:2,3:5:65.40:91,0,65
1 117121865 rs12066192 G A 257.50 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=1.468;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.33;MQ0=0;MQRankSum=1.468;QD=18.39;ReadPosRankSum=1.468;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IGSF3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318837 GT:AD:DP:GQ:PL 0/1:6,8:14:99:287,0,190
1 117142531 rs631461 G A 487.10 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.47;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IGSF3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318837 GT:AD:DP:GQ:PL 1/1:0,15:15:39.13:520,39,0
1 117146124 rs584423 T C 203.12 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.312;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9999;MQ=55.14;MQ0=0;MQRankSum=-0.66;QD=15.62;ReadPosRankSum=0.101;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IGSF3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318837 GT:AD:DP:GQ:PL 0/1:6,7:13:99:233,0,212
1 117236970 rs614477 G C 289.71 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.21;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf137;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369482 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:323,24,0
1 117297734 rs6701046 A G 80.10 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.7;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369477 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:112,9,0
1 117297784 rs2236323 A G 34.68 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.34;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369477 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:66,6,0
1 117447756 rs12144703 T C 1018.62 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.83;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTGFRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000393203 GT:AD:DP:GQ:PL 1/1:0,32:32:84.24:1052,84,0
1 117487270 rs56209138 G A 179.98 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.95;MQ0=0;QD=22.5;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTGFRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000393203 GT:AD:DP:GQ:PL 1/1:0,8:8:18.05:213,18,0
1 117487711 rs4546904 T A 42.95 QDFilter2 AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.14;MQ0=0;QD=1.59;SNPEFF_AMINO_ACID_CHANGE=S136T;SNPEFF_CODON_CHANGE=Tca/Aca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_117487369_117487714;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTGFRN;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000544471 GT:AD:DP:GQ:PL 1/1:0,27:27:8.98:75,9,0
1 117487884 rs10923173 G A 31.66 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=44.1;MQ0=0;QD=15.83;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTGFRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000393203 GT:AD:DP:GQ:PL 1/1:0,2:2:5.99:63,6,0
1 117491589 rs10801916 T C 86.28 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=51.77;MQ0=0;QD=28.76;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTGFRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000393203 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:118,9,0
1 117509981 rs12410651 G A 1189.31 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.04;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTGFRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000393203 GT:AD:DP:GQ:PL 1/1:0,33:33:90.29:1222,90,0
1 117509987 rs12403233 C T 1074.79 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.57;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTGFRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000393203 GT:AD:DP:GQ:PL 1/1:0,33:33:81.25:1108,81,0
1 117510061 rs12403245 C T 264.19 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.02;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTGFRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000393203 GT:AD:DP:GQ:PL 1/1:0,8:8:24.05:297,24,0
1 117527628 rs17579863 T C 567.72 PASS AB=0.387;AC=1;AF=0.50;AN=2;BaseQRankSum=0.223;DB;DP=31;Dels=0.0;FS=2.648;HRun=1;HaplotypeScore=0.0;MQ=55.37;MQ0=0;MQRankSum=3.386;QD=18.31;ReadPosRankSum=-1.196;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTGFRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000393203 GT:AD:DP:GQ:PL 0/1:12,19:31:99:598,0,223
1 117527645 rs36119404 GTCT G 358.27 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.128;DB;DP=25;FS=0.0;HRun=0;HaplotypeScore=157.8896;IndelType=D;MQ=54.2;MQ0=0;MQRankSum=-1.435;QD=14.33;ReadPosRankSum=-0.381;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTGFRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000393203 GT:AD:DP:GQ:PL 0/1:15,10:25:99:397,0,788
1 117529458 rs10801922 G A 807.27 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=3.903;DB;DP=58;Dels=0.0;FS=2.389;HRun=0;HaplotypeScore=0.0;MQ=59.6;MQ0=0;MQRankSum=0.327;QD=13.92;ReadPosRankSum=-0.998;SNPEFF_AMINO_ACID_CHANGE=V696I;SNPEFF_CODON_CHANGE=Gtc/Atc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_117529423_117532972;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTGFRN;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000544471 GT:AD:DP:GQ:PL 0/1:29,29:58:99:837,0,768
1 117555898 rs2764849 G A 836.02 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD101;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256652 GT:AD:DP:GQ:PL 1/1:0,22:22:66.16:869,66,0
1 117559726 rs2249265 A G 1510.46 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.52;MQ0=0;QD=31.47;SNPEFF_AMINO_ACID_CHANGE=M415V;SNPEFF_CODON_CHANGE=Atg/Gtg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_117559712_117560095;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD101;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000256652 GT:AD:DP:GQ:PL 1/1:0,47:48:99:1543,120,0
1 117560036 rs17235766 G A 881.31 PASS AB=0.508;AC=1;AF=0.50;AN=2;BaseQRankSum=3.267;DB;DP=61;Dels=0.0;FS=2.133;HRun=0;HaplotypeScore=0.0;MQ=59.62;MQ0=0;MQRankSum=-1.6;QD=14.45;ReadPosRankSum=-0.447;SNPEFF_AMINO_ACID_CHANGE=R518Q;SNPEFF_CODON_CHANGE=cGg/cAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_117559712_117560095;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD101;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000256652 GT:AD:DP:GQ:PL 0/1:31,30:61:99:911,0,856
1 117560059 . T C 698.69 PASS AB=0.516;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.813;DP=62;Dels=0.0;FS=2.177;HRun=1;HaplotypeScore=0.0;MQ=59.33;MQ0=0;MQRankSum=0.462;QD=11.27;ReadPosRankSum=-1.054;SNPEFF_AMINO_ACID_CHANGE=W526R;SNPEFF_CODON_CHANGE=Tgg/Cgg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_117559712_117560095;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD101;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000256652 GT:AD:DP:GQ:PL 0/1:32,30:62:99:729,0,905
1 117602960 rs2244501 C A 1750.10 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.7887;MQ=59.6;MQ0=0;QD=30.7;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464062 GT:AD:DP:GQ:PL 1/1:0,57:57:99:1783,141,0
1 117603188 rs2244406 G T 908.58 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.95;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369466 GT:AD:DP:GQ:PL 1/1:0,26:26:72.23:942,72,0
1 117617705 rs998532 A G 3401.83 PASS AC=2;AF=1.00;AN=2;DB;DP=99;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.36;SNPEFF_AMINO_ACID_CHANGE=K167E;SNPEFF_CODON_CHANGE=Aaa/Gaa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_117617492_117618481;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTF2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000369466 GT:AD:DP:GQ:PL 1/1:0,99:99:99:3402,274,0
1 117618067 rs1289673 C T 4359.69 PASS AC=2;AF=1.00;AN=2;DB;DP=118;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.6841;MQ=60.0;MQ0=0;QD=36.95;SNPEFF_AMINO_ACID_CHANGE=N287;SNPEFF_CODON_CHANGE=aaC/aaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_117617492_117618481;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTF2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000369466 GT:AD:DP:GQ:PL 1/1:0,118:118:99:4360,322,0
1 117618722 rs1289672 T C 1441.68 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.97;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470935 GT:AD:DP:GQ:PL 1/1:0,39:39:99:1475,108,0
1 117622286 rs2801939 A G 1029.99 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.39;MQ0=0;QD=35.52;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469638 GT:AD:DP:GQ:PL 1/1:0,29:29:81.23:1063,81,0
1 117631391 rs1555792 T C 1809.86 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.94;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369466 GT:AD:DP:GQ:PL 1/1:0,49:49:99:1843,135,0
1 117644058 rs41276572 A G 2124.32 PASS AB=0.506;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.097;DB;DP=158;Dels=0.0;FS=9.535;HRun=0;HaplotypeScore=4.3387;MQ=59.27;MQ0=0;MQRankSum=-1.009;QD=13.45;ReadPosRankSum=0.304;SNPEFF_AMINO_ACID_CHANGE=K1134R;SNPEFF_CODON_CHANGE=aAa/aGa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_117644002_117645492;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTF2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000369466 GT:AD:DP:GQ:PL 0/1:80,78:158:99:2154,0,2473
1 117658075 rs79788159 T C 452.08 PASS AB=0.548;AC=1;AF=0.50;AN=2;BaseQRankSum=3.116;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.298;QD=14.58;ReadPosRankSum=1.052;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRIM45;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485032 GT:AD:DP:GQ:PL 0/1:17,14:31:99:482,0,565
1 117660608 rs1289655 C T 1376.08 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9332;MQ=59.41;MQ0=0;QD=35.28;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRIM45;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485032 GT:AD:DP:GQ:PL 1/1:0,39:39:99:1409,108,0
1 117663913 rs3795655 C T 732.71 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.84;MQ0=0;QD=36.64;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRIM45;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369461 GT:AD:DP:GQ:PL 1/1:0,20:20:57.19:766,57,0
1 117664046 rs6657335 C T 73.70 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.57;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_1_117663336_117664350;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRIM45;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000256649 GT:AD:DP:GQ:PL 1/1:0,3:3:9.02:106,9,0
1 117690272 rs10754339 G A 1761.30 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9998;MQ=59.56;MQ0=0;QD=33.87;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VTCN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328189 GT:AD:DP:GQ:PL 1/1:0,52:52:99:1794,132,0
1 117715026 rs6657810 C T 1742.73 PASS AB=0.547;AC=1;AF=0.50;AN=2;BaseQRankSum=2.851;DB;DP=140;Dels=0.0;FS=3.09;HRun=0;HaplotypeScore=0.7887;MQ=59.84;MQ0=0;MQRankSum=1.562;QD=12.45;ReadPosRankSum=0.024;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VTCN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328189 GT:AD:DP:GQ:PL 0/1:76,63:140:99:1773,0,2349
1 117910682 rs1146297 G A 604.97 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.61;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAN1A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000482811 GT:AD:DP:GQ:PL 1/1:0,18:18:48.13:638,48,0
1 117945220 rs3767795 T C 72.10 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=18.03;ReadPosRankSum=-0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAN1A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329466 GT:AD:DP:GQ:PL 0/1:1,3:4:28.61:102,0,29
1 117957288 rs1289948 A G 1530.99 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9159;MQ=59.03;MQ0=0;QD=31.9;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAN1A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329466 GT:AD:DP:GQ:PL 1/1:0,48:48:99:1564,117,0
1 117984776 rs2306444 A T 181.05 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=2.181;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.825;QD=16.46;ReadPosRankSum=1.932;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAN1A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329466 GT:AD:DP:GQ:PL 0/1:5,6:11:99:211,0,155
1 118039722 rs7553018 C T 112.19 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.82;MQ0=0;MQRankSum=0.0;QD=18.7;ReadPosRankSum=0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAN1A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329466 GT:AD:DP:GQ:PL 0/1:2,4:6:62.59:142,0,63
1 118065284 rs34350477 C G 183.11 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.572;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=22.89;ReadPosRankSum=-1.589;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAN1A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329466 GT:AD:DP:GQ:PL 0/1:2,6:8:58.16:213,0,58
1 118065654 rs41312694 G A 430.75 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.896;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.33;MQ0=0;MQRankSum=-0.345;QD=15.38;ReadPosRankSum=0.437;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAN1A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329466 GT:AD:DP:GQ:PL 0/1:14,14:28:99:461,0,495
1 118165691 rs1630312 C T 1613.66 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.33;SNPEFF_AMINO_ACID_CHANGE=H67;SNPEFF_CODON_CHANGE=caC/caT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_118165464_118170994;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM46C;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000369448 GT:AD:DP:GQ:PL 1/1:0,47:47:99:1647,120,0
1 118320644 rs1780028 A G 199.57 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=35.54;MQ0=0;QD=22.17;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=AL390877.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000423940 GT:AD:DP:GQ:PL 1/1:0,9:9:21.05:233,21,0
1 118320792 rs144617386 G A 162.74 MQFilter40 AB=0.593;AC=1;AF=0.50;AN=2;BaseQRankSum=0.794;DB;DP=27;Dels=0.0;FS=8.141;HRun=0;HaplotypeScore=0.8321;MQ=27.06;MQ0=5;MQRankSum=-1.247;QD=6.03;ReadPosRankSum=0.643;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AL390877.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000504345 GT:AD:DP:GQ:PL 0/1:16,11:27:99:193,0,264
1 118320859 rs1775749 T A 434.95 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=25.71;MQ0=4;QD=20.71;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AL390877.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000504345 GT:AD:DP:GQ:PL 1/1:0,21:21:39.12:468,39,0
1 118321119 rs114485606 T C 1137.65 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=47.21;MQ0=1;QD=27.75;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AL390877.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000504345 GT:AD:DP:GQ:PL 1/1:0,41:41:90.28:1171,90,0
1 118482149 rs34973445 C T 762.92 PASS AB=0.585;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.01;DB;DP=66;Dels=0.0;FS=3.54;HRun=0;HaplotypeScore=1.8665;MQ=59.3;MQ0=0;MQRankSum=-1.008;QD=11.56;ReadPosRankSum=1.661;SNPEFF_AMINO_ACID_CHANGE=A210V;SNPEFF_CODON_CHANGE=gCc/gTc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_118482100_118482195;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000349139 GT:AD:DP:GQ:PL 0/1:38,27:66:99:793,0,1124
1 118484265 rs10733098 G A 316.34 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.15;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471680 GT:AD:DP:GQ:PL 1/1:0,9:9:27.07:349,27,0
1 118492587 rs41276602 T G 1353.15 PASS AB=0.574;AC=1;AF=0.50;AN=2;BaseQRankSum=4.03;DB;DP=115;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9692;MQ=60.0;MQ0=0;MQRankSum=-0.286;QD=11.77;ReadPosRankSum=1.422;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SPAG17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336338 GT:AD:DP:GQ:PL 0/1:66,49:115:99:1383,0,2222
1 118501941 . T G 116.21 FSFilter60;QDFilter2 AB=0.569;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.988;DP=65;Dels=0.0;FS=71.102;HRun=2;HaplotypeScore=2.9647;MQ=49.11;MQ0=0;MQRankSum=-3.298;QD=1.79;ReadPosRankSum=0.107;SNPEFF_AMINO_ACID_CHANGE=G901;SNPEFF_CODON_CHANGE=ggT/ggG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_118501915_118503049;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000349139 GT:AD:DP:GQ:PL 0/1:37,28:65:99:146,0,1249
1 118526592 rs4347199 G A 357.96 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.83;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SPAG17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336338 GT:AD:DP:GQ:PL 1/1:0,12:12:30.10:391,30,0
1 118554711 rs6428725 G T 204.81 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.13;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SPAG17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336338 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:238,18,0
1 118565953 rs10923472 G A 1680.05 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.03;MQ0=0;QD=35.0;SNPEFF_AMINO_ACID_CHANGE=P1348L;SNPEFF_CODON_CHANGE=cCa/cTa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_118565927_118566086;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SPAG17;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000336338 GT:AD:DP:GQ:PL 1/1:0,48:48:99:1713,126,0
1 118583408 rs10923477 G A 1948.90 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.77;SNPEFF_AMINO_ACID_CHANGE=Y1037;SNPEFF_CODON_CHANGE=taC/taT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_118583353_118583464;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SPAG17;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000336338 GT:AD:DP:GQ:PL 1/1:0,53:53:99:1982,144,0
1 118598288 rs149310440 GATTAA G 469.59 PASS AB=0.744;AC=1;AF=0.50;AN=2;BaseQRankSum=3.831;DB;DP=29;FS=0.0;HRun=0;HaplotypeScore=150.6031;IndelType=D;MQ=57.96;MQ0=0;MQRankSum=-1.078;QD=16.19;ReadPosRankSum=-1.537;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SPAG17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336338 GT:AD:DP:GQ:PL 0/1:19,10:29:99:509,0,1667
1 118617274 rs1935993 C T 881.83 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.22;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.79;MQ=59.33;MQ0=0;MQRankSum=0.835;QD=31.49;ReadPosRankSum=-0.193;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SPAG17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336338 GT:AD:DP:GQ:PL 1/1:1,27:28:33.46:915,33,0
1 118623681 rs71584521 TACACAC T 1127.06 PASS AC=2;AF=1.00;AN=2;DB;DP=30;FS=0.0;HRun=0;HaplotypeScore=211.1167;IndelType=D;MQ=42.35;MQ0=0;QD=37.57;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SPAG17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463628 GT:AD:DP:GQ:PL 1/1:7,22:30:60.20:1169,60,0
1 118629125 rs2798150 T C 51.22 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.61;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SPAG17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336338 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
1 118629811 . C T 38.62 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.026;QD=9.66;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SPAG17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336338 GT:AD:DP:GQ:PL 0/1:2,2:4:58.26:69,0,58
1 118644430 rs10754367 A G 2591.93 PASS AC=2;AF=1.00;AN=2;DB;DP=80;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.4;SNPEFF_AMINO_ACID_CHANGE=N189;SNPEFF_CODON_CHANGE=aaT/aaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_118644363_118644549;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SPAG17;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000336338 GT:AD:DP:GQ:PL 1/1:0,80:80:99:2625,205,0
1 118644524 rs17185492 T A 2611.90 PASS AC=2;AF=1.00;AN=2;DB;DP=77;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.7;MQ0=0;QD=33.92;SNPEFF_AMINO_ACID_CHANGE=E158V;SNPEFF_CODON_CHANGE=gAa/gTa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_118644363_118644549;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SPAG17;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000336338 GT:AD:DP:GQ:PL 1/1:0,77:77:99:2645,202,0
1 118693016 rs76419145 T G 85.08 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.36;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SPAG17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465053 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:117,9,0
1 119466275 rs4659129 A G 440.25 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TBX15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000207157 GT:AD:DP:GQ:PL 1/1:0,13:13:36.10:473,36,0
1 119466374 rs1766793 G T 124.64 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.16;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TBX15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000207157 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:157,12,0
1 119467127 rs1779437 C T 553.10 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.57;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TBX15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000207157 GT:AD:DP:GQ:PL 1/1:0,16:16:45.15:586,45,0
1 119683063 rs3934789 G A 73.66 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=14.73;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WARS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000235521 GT:AD:DP:GQ:PL 0/1:2,3:5:28.61:104,0,29
1 119923099 rs143116491 T C 156.10 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=1.067;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.067;QD=19.51;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HAO2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000325945 GT:AD:DP:GQ:PL 0/1:2,6:8:52.24:186,0,52
1 119923531 rs2224995 A C 528.86 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.05;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HAO2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000325945 GT:AD:DP:GQ:PL 1/1:0,16:16:42.13:562,42,0
1 119923724 rs2275607 T C 3310.11 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.374;DB;DP=104;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.56;MQ0=0;MQRankSum=-0.272;QD=31.83;ReadPosRankSum=0.272;SNPEFF_AMINO_ACID_CHANGE=L19;SNPEFF_CODON_CHANGE=Ttg/Ctg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_119923701_119923839;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HAO2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000361035 GT:AD:DP:GQ:PL 1/1:1,103:104:99:3310,214,0
1 119925403 rs1341007 C T 127.40 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.85;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HAO2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000325945 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:160,12,0
1 119925464 rs2298027 G A 524.27 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.77;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HAO2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000325945 GT:AD:DP:GQ:PL 1/1:0,16:16:42.14:557,42,0
1 119927680 rs6667679 A G 653.49 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.67;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HAO2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000325945 GT:AD:DP:GQ:PL 1/1:0,20:20:54.15:686,54,0
1 119936263 rs3765949 G A 932.64 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.2;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.667;QD=35.87;ReadPosRankSum=-1.467;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HAO2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000325945 GT:AD:DP:GQ:PL 1/1:1,25:26:40.45:966,40,0
1 120057158 rs6203 C T 1742.40 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.66;MQ0=0;QD=33.51;SNPEFF_AMINO_ACID_CHANGE=L338;SNPEFF_CODON_CHANGE=Ctg/Ttg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_120056457_120057677;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HSD3B1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000369413 GT:AD:DP:GQ:PL 1/1:0,52:52:99:1775,135,0
1 120057246 rs1047303 C A 951.88 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=49.96;MQ0=0;QD=30.71;SNPEFF_AMINO_ACID_CHANGE=T367N;SNPEFF_CODON_CHANGE=aCc/aAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_120056457_120057677;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HSD3B1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000369413 GT:AD:DP:GQ:PL 1/1:0,31:31:75.24:985,75,0
1 120165135 rs3795662 G T 51.16 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.58;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF697;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421812 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
1 120165187 rs3795663 G A 39.83 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=19.92;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF697;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421812 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:71,6,0
1 120165826 rs12076924 C T 953.68 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.06;SNPEFF_AMINO_ACID_CHANGE=P380;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_120162045_120166739;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF697;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000421812 GT:AD:DP:GQ:PL 1/1:0,28:28:75.24:987,75,0
1 120166681 rs12067843 G A 1785.63 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.78;MQ0=0;QD=31.33;SNPEFF_AMINO_ACID_CHANGE=S95;SNPEFF_CODON_CHANGE=tcC/tcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_120162045_120166739;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF697;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000421812 GT:AD:DP:GQ:PL 1/1:0,57:57:99:1819,132,0
1 120254506 rs561931 A G 392.46 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.68;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PHGDH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000493622 GT:AD:DP:GQ:PL 1/1:0,11:11:33.11:425,33,0
1 120254545 rs562038 G C 799.98 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.36;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PHGDH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462324 GT:AD:DP:GQ:PL 1/1:0,22:22:63.19:833,63,0
1 120263643 rs550174 T C 140.88 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.453;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.453;QD=14.09;ReadPosRankSum=0.676;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PHGDH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369409 GT:AD:DP:GQ:PL 0/1:5,5:10:99:171,0,136
1 120263657 rs894079 A G 207.68 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.312;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.33;MQ0=0;MQRankSum=0.935;QD=14.83;ReadPosRankSum=-0.312;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_1_120262250_120263944;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PHGDH;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000369407 GT:AD:DP:GQ:PL 0/1:6,8:14:99:238,0,193
1 120269567 rs2236398 G C 434.91 PASS AB=0.568;AC=1;AF=0.50;AN=2;BaseQRankSum=1.48;DB;DP=37;Dels=0.0;FS=1.32;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.321;QD=11.75;ReadPosRankSum=1.353;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PHGDH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369407 GT:AD:DP:GQ:PL 0/1:21,16:37:99:465,0,560
1 120285546 rs543703 G A 468.88 PASS AB=0.528;AC=1;AF=0.50;AN=2;BaseQRankSum=2.567;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=0.475;QD=13.02;ReadPosRankSum=-0.254;SNPEFF_AMINO_ACID_CHANGE=T315;SNPEFF_CODON_CHANGE=acG/acA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_120285430_120285667;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PHGDH;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000537497 GT:AD:DP:GQ:PL 0/1:19,17:36:99:499,0,535
1 120286457 rs2236399 G T 1184.65 PASS AB=0.565;AC=1;AF=0.50;AN=2;BaseQRankSum=4.903;DB;DP=92;Dels=0.0;FS=3.103;HRun=0;HaplotypeScore=1.4972;MQ=59.55;MQ0=0;MQRankSum=-0.24;QD=12.88;ReadPosRankSum=1.367;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HMGCS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369406 GT:AD:DP:GQ:PL 0/1:52,40:92:99:1215,0,1543
1 120293367 rs667246 T C 135.21 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.381;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.437;QD=10.4;ReadPosRankSum=-0.978;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HMGCS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472375 GT:AD:DP:GQ:PL 0/1:8,5:13:99:165,0,262
1 120336785 rs1052972 C T 1352.25 PASS AB=0.44;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.378;DB;DP=84;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.3839;MQ=59.17;MQ0=0;MQRankSum=-0.883;QD=16.1;ReadPosRankSum=-0.703;SNPEFF_AMINO_ACID_CHANGE=W114*;SNPEFF_CODON_CHANGE=tGg/tAg;SNPEFF_EFFECT=STOP_GAINED;SNPEFF_EXON_ID=exon_1_120336751_120336822;SNPEFF_FUNCTIONAL_CLASS=NONSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=REG4;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000369402 GT:AD:DP:GQ:PL 0/1:37,47:84:99:1382,0,1182
1 120336876 rs699778 T G 596.16 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=2.162;DB;DP=45;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.734;MQ=58.97;MQ0=0;MQRankSum=1.01;QD=13.25;ReadPosRankSum=0.164;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=REG4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000530654 GT:AD:DP:GQ:PL 0/1:24,21:45:99:626,0,720
1 120337384 rs947270 T C 623.83 PASS AB=0.463;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.784;DB;DP=41;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8667;MQ=58.98;MQ0=0;MQRankSum=-2.314;QD=15.22;ReadPosRankSum=1.163;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=REG4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256585 GT:AD:DP:GQ:PL 0/1:19,22:41:99:654,0,674
1 120337403 rs947271 A G 457.94 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=1.976;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9789;MQ=58.44;MQ0=0;MQRankSum=-0.708;QD=16.96;ReadPosRankSum=-1.488;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=REG4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256585 GT:AD:DP:GQ:PL 0/1:12,15:27:99:488,0,408
1 120340918 rs1163541 G A 147.36 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.361;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=16.37;ReadPosRankSum=-0.876;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=REG4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369401 GT:AD:DP:GQ:PL 0/1:4,5:9:99:177,0,138
1 120342167 rs2793836 T C 38.60 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=12.87;ReadPosRankSum=-0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=REG4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369401 GT:AD:DP:GQ:PL 0/1:1,2:3:32.73:69,0,33
1 120342215 rs1992377 T C 71.92 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.537;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=11.99;ReadPosRankSum=0.406;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=REG4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369401 GT:AD:DP:GQ:PL 0/1:3,3:6:94.30:102,0,94
1 120378678 rs3009182 C T 548.32 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=0.545;DB;DP=50;Dels=0.0;FS=8.309;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.168;QD=10.97;ReadPosRankSum=0.921;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=NBPF7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401014 GT:AD:DP:GQ:PL 0/1:30,20:50:99:578,0,1031
1 120379740 . A AT 162.54 PASS AC=2;AF=1.00;AN=2;DP=5;FS=0.0;HRun=0;HaplotypeScore=30.3838;IndelType=I;MQ=56.43;MQ0=0;QD=32.51;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=NBPF7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401014 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:204,15,0
1 120380008 rs3009184 T A 556.65 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.937;DB;DP=42;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.8773;MQ=58.44;MQ0=0;MQRankSum=0.503;QD=13.25;ReadPosRankSum=-0.402;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=NBPF7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401014 GT:AD:DP:GQ:PL 0/1:21,21:42:99:587,0,658
1 120382121 rs2226084 C T 497.68 PASS AB=0.515;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.135;DB;DP=33;Dels=0.0;FS=6.435;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.991;QD=15.08;ReadPosRankSum=-0.378;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=NBPF7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401014 GT:AD:DP:GQ:PL 0/1:17,16:33:99:528,0,599
1 120384205 rs2994820 A G 2371.87 PASS AB=0.477;AC=1;AF=0.50;AN=2;BaseQRankSum=2.018;DB;DP=173;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.6918;MQ=59.73;MQ0=0;MQRankSum=-0.521;QD=13.71;ReadPosRankSum=-0.398;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=NBPF7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401014 GT:AD:DP:GQ:PL 0/1:82,90:173:99:2402,0,2481
1 120387376 rs2153676 A G 82.08 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=20.52;ReadPosRankSum=0.727;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=NBPF7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401014 GT:AD:DP:GQ:PL 0/1:1,3:4:27.97:112,0,28
1 120390071 rs3009191 T C 1148.75 PASS AB=0.465;AC=1;AF=0.50;AN=2;BaseQRankSum=1.216;DB;DP=99;Dels=0.0;FS=5.452;HRun=1;HaplotypeScore=0.8321;MQ=45.89;MQ0=11;MQRankSum=-7.297;QD=11.6;ReadPosRankSum=0.196;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=NBPF7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401014 GT:AD:DP:GQ:PL 0/1:46,53:99:99:1179,0,1458
1 120436751 rs35273427 T C 2450.81 PASS AB=0.534;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.045;DB;DP=190;DS;Dels=0.0;FS=13.0;HRun=0;HaplotypeScore=3.4938;MQ=59.66;MQ0=0;MQRankSum=0.804;QD=12.9;ReadPosRankSum=0.885;SNPEFF_AMINO_ACID_CHANGE=T737A;SNPEFF_CODON_CHANGE=Aca/Gca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_120436156_120439118;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADAM30;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000369400 GT:AD:DP:GQ:PL 0/1:101,88:190:99:2481,0,3240
1 120437718 rs2793823 G A 1453.16 PASS AB=0.485;AC=1;AF=0.50;AN=2;BaseQRankSum=1.233;DB;DP=100;Dels=0.0;FS=2.642;HRun=1;HaplotypeScore=2.4805;MQ=59.08;MQ0=0;MQRankSum=0.274;QD=14.39;ReadPosRankSum=-0.309;SNPEFF_AMINO_ACID_CHANGE=D414;SNPEFF_CODON_CHANGE=gaC/gaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_120436156_120439118;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADAM30;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000369400 GT:AD:DP:GQ:PL 0/1:48,51:100:99:1483,0,1445
1 120437884 rs2641348 A G 1038.85 PASS AB=0.61;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.752;DB;DP=100;Dels=0.0;FS=0.795;HRun=1;HaplotypeScore=1.865;MQ=59.58;MQ0=0;MQRankSum=0.601;QD=10.39;ReadPosRankSum=-0.702;SNPEFF_AMINO_ACID_CHANGE=L359P;SNPEFF_CODON_CHANGE=cTt/cCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_120436156_120439118;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADAM30;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000369400 GT:AD:DP:GQ:PL 0/1:61,39:100:99:1069,0,2042
1 120458004 rs6685892 A T 508.38 PASS AB=0.56;AC=1;AF=0.50;AN=2;BaseQRankSum=1.788;DB;DP=51;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=-0.314;QD=9.97;ReadPosRankSum=0.206;SNPEFF_AMINO_ACID_CHANGE=G2447;SNPEFF_CODON_CHANGE=ggT/ggA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_120454176_120459317;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000256646 GT:AD:DP:GQ:PL 0/1:28,22:51:99:538,0,833
1 120461253 rs2793829 C T 144.15 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=0.361;DB;DP=9;Dels=0.0;FS=3.522;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.361;QD=16.02;ReadPosRankSum=1.307;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000493703 GT:AD:DP:GQ:PL 0/1:4,5:9:99:174,0,137
1 120464165 rs835573 C T 74.52 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=0.406;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=10.65;ReadPosRankSum=-0.406;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000493703 GT:AD:DP:GQ:PL 0/1:4,3:7:99:105,0,107
1 120466108 rs2793830 G A 62.15 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.537;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=10.36;ReadPosRankSum=0.406;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256646 GT:AD:DP:GQ:PL 0/1:3,3:6:91.90:92,0,92
1 120471424 rs2493393 C T 91.60 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.53;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256646 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:124,9,0
1 120471857 rs2493392 C T 170.25 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.614;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.356;QD=12.16;ReadPosRankSum=0.452;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256646 GT:AD:DP:GQ:PL 0/1:8,6:14:99:200,0,282
1 120477998 rs2453056 C A 1508.08 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.722;DB;DP=112;Dels=0.0;FS=3.211;HRun=0;HaplotypeScore=0.8941;MQ=59.79;MQ0=0;MQRankSum=0.315;QD=13.47;ReadPosRankSum=-0.169;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256646 GT:AD:DP:GQ:PL 0/1:61,51:112:99:1538,0,1947
1 120478285 rs5025718 T C 261.51 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.33;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=1.088;QD=11.89;ReadPosRankSum=-1.813;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256646 GT:AD:DP:GQ:PL 0/1:12,10:22:99:292,0,386
1 120480394 rs2453057 T C 828.93 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.54;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256646 GT:AD:DP:GQ:PL 1/1:0,24:24:69.22:862,69,0
1 120480709 rs2453058 C T 144.84 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.718;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=-0.467;QD=11.14;ReadPosRankSum=-0.869;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256646 GT:AD:DP:GQ:PL 0/1:6,6:13:99:175,0,213
1 120484421 rs2493420 G A 208.20 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.663;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.027;QD=14.87;ReadPosRankSum=-0.78;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256646 GT:AD:DP:GQ:PL 0/1:7,7:14:99:238,0,251
1 120496119 rs7534585 A T 695.35 PASS AB=0.465;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.254;DB;DP=43;Dels=0.0;FS=2.304;HRun=0;HaplotypeScore=0.9998;MQ=59.46;MQ0=0;MQRankSum=0.642;QD=16.17;ReadPosRankSum=1.398;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256646 GT:AD:DP:GQ:PL 0/1:20,23:43:99:725,0,674
1 120496127 rs7534586 A C 723.11 PASS AB=0.469;AC=1;AF=0.50;AN=2;BaseQRankSum=3.158;DB;DP=49;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9998;MQ=59.53;MQ0=0;MQRankSum=-0.991;QD=14.76;ReadPosRankSum=0.949;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256646 GT:AD:DP:GQ:PL 0/1:23,26:49:99:753,0,752
1 120506108 rs2934381 G A 689.75 PASS AB=0.541;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.21;DB;DP=62;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.6648;MQ=59.63;MQ0=0;MQRankSum=-1.544;QD=11.13;ReadPosRankSum=-1.194;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256646 GT:AD:DP:GQ:PL 0/1:33,28:62:99:720,0,1090
1 120512104 rs2493409 T C 384.99 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=58.2;MQ0=0;QD=29.61;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256646 GT:AD:DP:GQ:PL 1/1:0,13:13:33.10:418,33,0
1 120529750 rs2453040 A C 425.68 PASS AB=0.472;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.34;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.2434;MQ=60.0;MQ0=0;MQRankSum=0.182;QD=11.82;ReadPosRankSum=0.38;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401649 GT:AD:DP:GQ:PL 0/1:17,19:36:99:456,0,569
1 120539331 rs2124109 C T 363.10 PASS AB=0.759;AC=1;AF=0.50;AN=2;BaseQRankSum=0.151;DB;DP=80;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.7381;MQ=53.11;MQ0=1;MQRankSum=-3.143;QD=4.54;ReadPosRankSum=-2.421;SNPEFF_AMINO_ACID_CHANGE=R223;SNPEFF_CODON_CHANGE=agG/agA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_120535405_120539354;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000369342 GT:AD:DP:GQ:PL 0/1:60,19:80:99:393,0,1864
1 120611960 rs139076095 C T 167.75 PASS AB=0.421;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.466;DB;DP=19;Dels=0.0;FS=8.82;HRun=0;HaplotypeScore=0.9996;MQ=42.64;MQ0=1;MQRankSum=-2.443;QD=8.83;ReadPosRankSum=-0.311;SNPEFF_AMINO_ACID_CHANGE=A21T;SNPEFF_CODON_CHANGE=Gcc/Acc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_120611948_120612240;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000256646 GT:AD:DP:GQ:PL 0/1:8,11:19:99:198,0,269
1 120612002 . CGG C 212.70 PASS AB=0.724;AC=1;AF=0.50;AN=2;BaseQRankSum=1.902;DP=19;FS=18.921;HRun=4;HaplotypeScore=146.3627;IndelType=D;MQ=45.03;MQ0=1;MQRankSum=-2.174;QD=10.13;ReadPosRankSum=0.362;SNPEFF_EFFECT=FRAME_SHIFT;SNPEFF_EXON_ID=exon_1_120611948_120612240;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000256646 GT:AD:DP:GQ:PL 0/1:13,8:19:99:252,0,303
1 120612006 rs77243975 G A 231.71 HaplotypeScoreFilter13 AB=0.619;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.041;DB;DP=21;Dels=0.0;FS=8.193;HRun=0;HaplotypeScore=17.7814;MQ=45.03;MQ0=1;MQRankSum=1.61;QD=11.03;ReadPosRankSum=0.619;SNPEFF_EFFECT=SPLICE_SITE_ACCEPTOR;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000538680 GT:AD:DP:GQ:PL 0/1:13,8:21:89.22:262,0,89
1 120612034 . T G 31.19 QDFilter2 AB=0.632;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.857;DP=19;Dels=0.0;FS=5.528;HRun=0;HaplotypeScore=2.995;MQ=46.23;MQ0=0;MQRankSum=-2.95;QD=1.64;ReadPosRankSum=-2.201;SNPEFF_AMINO_ACID_CHANGE=G14;SNPEFF_CODON_CHANGE=ggA/ggC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_120612010_120612075;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000538680 GT:AD:DP:GQ:PL 0/1:12,7:19:61.18:61,0,373
1 120612154 rs56375229 C G 156.74 PASS AB=0.719;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.106;DB;DP=32;Dels=0.0;FS=3.891;HRun=1;HaplotypeScore=0.8941;MQ=45.73;MQ0=4;MQRankSum=-1.645;QD=4.9;ReadPosRankSum=-0.637;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000538680 GT:AD:DP:GQ:PL 0/1:23,9:32:99:187,0,667
1 120612163 rs55899574 C A 195.67 PASS AB=0.676;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.815;DB;DP=34;Dels=0.0;FS=3.568;HRun=0;HaplotypeScore=5.8483;MQ=46.86;MQ0=4;MQRankSum=-1.403;QD=5.76;ReadPosRankSum=-1.448;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000538680 GT:AD:DP:GQ:PL 0/1:23,11:34:99:226,0,663
1 120612265 . A G 61.64 PASS AB=0.722;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.053;DP=18;Dels=0.0;FS=5.842;HRun=0;HaplotypeScore=2.8633;MQ=43.22;MQ0=0;MQRankSum=-1.634;QD=3.42;ReadPosRankSum=-0.264;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256646 GT:AD:DP:GQ:PL 0/1:13,5:18:91.63:92,0,306
1 120612297 rs138452656 C A 172.33 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.766;DB;DP=18;Dels=0.0;FS=6.41;HRun=0;HaplotypeScore=0.0;MQ=41.59;MQ0=1;MQRankSum=0.884;QD=9.57;ReadPosRankSum=-0.295;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256646 GT:AD:DP:GQ:PL 0/1:9,9:18:99:202,0,163
1 120904791 rs2791063 A G 733.47 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.575;DB;DP=56;Dels=0.0;FS=5.885;HRun=0;HaplotypeScore=3.799;MQ=48.85;MQ0=0;MQRankSum=-1.301;QD=13.1;ReadPosRankSum=-0.278;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP11-439A17.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401004 GT:AD:DP:GQ:PL 0/1:24,32:56:99:763,0,690
1 120905164 rs149926271 G C 319.08 PASS AB=0.133;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.293;DB;DP=15;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=51.98;MQ0=0;MQRankSum=-0.764;QD=21.27;ReadPosRankSum=1.783;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP11-439A17.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401004 GT:AD:DP:GQ:PL 0/1:2,13:15:38.55:349,0,39
1 120927081 rs76856338 C T 360.60 MQFilter40 AB=0.568;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.15;DB;DP=37;Dels=0.0;FS=11.784;HRun=0;HaplotypeScore=0.0;MQ=33.28;MQ0=2;MQRankSum=2.883;QD=9.75;ReadPosRankSum=-0.85;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FCGR1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369383 GT:AD:DP:GQ:PL 0/1:21,16:37:99:391,0,436
1 120934353 . C T 551.45 MQFilter40 AB=0.566;AC=1;AF=0.50;AN=2;BaseQRankSum=2.957;DP=77;Dels=0.0;FS=1.515;HRun=0;HaplotypeScore=0.0;MQ=23.04;MQ0=41;MQRankSum=2.607;QD=7.16;ReadPosRankSum=-1.557;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FCGR1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369383 GT:AD:DP:GQ:PL 0/1:43,33:77:99:581,0,274
1 121115761 rs150166046 T G 40.73 MQFilter40 AB=0.778;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.91;DB;DP=18;Dels=0.0;FS=2.963;HRun=1;HaplotypeScore=0.0;MQ=29.41;MQ0=2;MQRankSum=0.546;QD=2.26;ReadPosRankSum=-1.395;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AL358175.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000437515 GT:AD:DP:GQ:PL 0/1:14,4:18:70.72:71,0,282
1 121115786 . C A 122.82 MQFilter40 AB=0.692;AC=1;AF=0.50;AN=2;BaseQRankSum=0.635;DP=26;Dels=0.0;FS=5.798;HRun=0;HaplotypeScore=0.5784;MQ=30.98;MQ0=2;MQRankSum=0.318;QD=4.72;ReadPosRankSum=0.0;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AL358175.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000437515 GT:AD:DP:GQ:PL 0/1:18,8:26:99:153,0,395
1 121116121 . T C 158.24 MQFilter40 AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.678;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=27.08;MQ0=0;MQRankSum=-1.628;QD=9.89;ReadPosRankSum=-1.523;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AL358175.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000437515 GT:AD:DP:GQ:PL 0/1:8,8:16:99:188,0,188
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1 143394152 . C A 123.11 MQFilter40;QDFilter2 AB=0.932;AC=1;AF=0.50;AN=2;BaseQRankSum=2.662;DP=162;Dels=0.0;FS=8.451;HRun=0;HaplotypeScore=0.8321;MQ=10.35;MQ0=107;MQRankSum=2.872;QD=0.76;ReadPosRankSum=-0.2;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=BX004987.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000412492 GT:AD:DP:GQ:PL 0/1:151,11:162:99:153,0,325
1 143400907 rs61799773 A G 344.87 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=18.95;MQ0=3;QD=11.12;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=BX004987.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000428624 GT:AD:DP:GQ:PL 1/1:0,31:31:35.99:378,36,0
1 143663789 . C T 35.63 MQFilter40 AC=2;AF=1.00;AN=2;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=29.0;MQ0=0;QD=17.81;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=BX284650.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000440199 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:67,6,0
1 143664074 rs148282614 C G 45.87 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=26.85;MQ0=1;QD=5.73;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=BX284650.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000445753 GT:AD:DP:GQ:PL 1/1:0,8:8:6.02:77,6,0
1 143664091 rs115201108 C G 37.45 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=26.85;MQ0=1;QD=4.68;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=BX284650.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000445753 GT:AD:DP:GQ:PL 1/1:0,8:8:6.02:69,6,0
1 143664107 rs145804921 G A 30.88 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=26.85;MQ0=1;QD=3.86;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=BX284650.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000445753 GT:AD:DP:GQ:PL 1/1:1,7:8:6.01:62,6,0
1 143664165 rs140216616 C G 81.11 MQFilter40;SnpCluster AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=25.94;MQ0=5;QD=6.24;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=BX284650.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000445753 GT:AD:DP:GQ:PL 1/1:5,8:13:9.03:113,9,0
1 143664168 rs138587150 G A 75.48 MQFilter40;SnpCluster AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=25.2;MQ0=5;QD=5.39;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=BX284650.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000445753 GT:AD:DP:GQ:PL 1/1:5,9:14:9.03:108,9,0
1 143664173 rs143804077 T C 78.83 MQFilter40;SnpCluster AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=22.17;MQ0=5;QD=6.06;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=BX284650.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000445753 GT:AD:DP:GQ:PL 1/1:5,8:13:9.03:111,9,0
1 143664183 rs150890212 G T 78.14 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=22.67;MQ0=5;QD=6.51;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=BX284650.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000445753 GT:AD:DP:GQ:PL 1/1:5,7:12:9.03:110,9,0
1 143664198 . T C 68.92 MQFilter40 AC=2;AF=1.00;AN=2;DP=11;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=23.24;MQ0=5;QD=6.27;SNPEFF_EFFECT=SPLICE_SITE_ACCEPTOR;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=BX284650.1;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000445753 GT:AD:DP:GQ:PL 1/1:5,6:11:9.02:101,9,0
1 143744078 rs7512075 C T 70.07 MQFilter40 AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.663;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=29.55;MQ0=0;MQRankSum=-0.597;QD=5.84;ReadPosRankSum=-1.246;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=BX284650.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000429388 GT:AD:DP:GQ:PL 0/1:5,7:12:98.05:100,0,98
1 143744160 rs61823125 G A 1378.90 MQFilter40 AB=0.447;AC=1;AF=0.50;AN=2;BaseQRankSum=4.035;DB;DP=94;Dels=0.0;FS=2.39;HRun=2;HaplotypeScore=0.734;MQ=35.9;MQ0=1;MQRankSum=-0.205;QD=14.67;ReadPosRankSum=-0.329;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=BX284650.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000429388 GT:AD:DP:GQ:PL 0/1:42,52:94:99:1409,0,1114
1 143744411 rs140521978 G C 57.83 MQFilter40;QDFilter2 AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.415;DB;DP=30;Dels=0.0;FS=3.09;HRun=0;HaplotypeScore=1.865;MQ=22.67;MQ0=15;MQRankSum=0.065;QD=1.93;ReadPosRankSum=-0.326;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=BX284650.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000429388 GT:AD:DP:GQ:PL 0/1:20,10:30:87.83:88,0,273
1 143744508 rs71661953 G T 174.02 MQFilter40 AB=0.357;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.855;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=39.89;MQ0=1;MQRankSum=-2.524;QD=12.43;ReadPosRankSum=-0.437;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=BX284650.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000429388 GT:AD:DP:GQ:PL 0/1:5,9:14:99:204,0,128
1 143744513 rs71661954 C T 130.94 MQFilter40 AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.365;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=38.6;MQ0=1;MQRankSum=-1.468;QD=8.73;ReadPosRankSum=0.471;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=BX284650.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000429388 GT:AD:DP:GQ:PL 0/1:6,9:15:99:161,0,130
1 143767235 . G A 124.10 MQFilter40;QDFilter2 AB=0.757;AC=1;AF=0.50;AN=2;BaseQRankSum=1.209;DP=70;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=16.98;MQ0=42;MQRankSum=-0.746;QD=1.77;ReadPosRankSum=-0.386;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPIAL4G;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000419275 GT:AD:DP:GQ:PL 0/1:53,17:70:99:154,0,406
1 143767254 . A G 67 MQFilter40;QDFilter2 AB=0.8;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.827;DP=105;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.7772;MQ=15.32;MQ0=72;MQRankSum=-0.903;QD=0.64;ReadPosRankSum=0.777;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPIAL4G;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000419275 GT:AD:DP:GQ:PL 0/1:84,21:105:96.99:97,0,644
1 143767312 . G T 320.87 MQFilter40;QDFilter2 AB=0.796;AC=1;AF=0.50;AN=2;BaseQRankSum=0.337;DP=222;Dels=0.0;FS=7.778;HRun=0;HaplotypeScore=2.9508;MQ=14.34;MQ0=158;MQRankSum=-0.367;QD=1.45;ReadPosRankSum=-0.487;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPIAL4G;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000419275 GT:AD:DP:GQ:PL 0/1:176,45:222:99:351,0,1055
1 143767513 rs6604511 A T 1429.61 MQFilter40 AB=0.586;AC=1;AF=0.50;AN=2;BaseQRankSum=-6.029;DB;DP=244;DS;Dels=0.0;FS=0.709;HRun=0;HaplotypeScore=2.8896;MQ=28.33;MQ0=29;MQRankSum=0.353;QD=5.86;ReadPosRankSum=0.413;SNPEFF_AMINO_ACID_CHANGE=F112L;SNPEFF_CODON_CHANGE=ttT/ttA;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_143767144_143767881;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPIAL4G;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000419275 GT:AD:DP:GQ:PL 0/1:143,101:244:99:1460,0,2689
1 143767522 rs6604512 A G 1507.38 MQFilter40 AB=0.599;AC=1;AF=0.50;AN=2;BaseQRankSum=2.03;DB;DP=247;DS;Dels=0.0;FS=3.902;HRun=0;HaplotypeScore=0.734;MQ=26.5;MQ0=33;MQRankSum=-0.146;QD=6.1;ReadPosRankSum=-0.245;SNPEFF_AMINO_ACID_CHANGE=G109;SNPEFF_CODON_CHANGE=ggT/ggC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_143767144_143767881;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPIAL4G;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000419275 GT:AD:DP:GQ:PL 0/1:148,99:247:99:1537,0,2422
1 143767547 rs2490183 G A 1047.71 MQFilter40 AB=0.645;AC=1;AF=0.50;AN=2;BaseQRankSum=-6.163;DB;DP=248;DS;Dels=0.0;FS=5.745;HRun=0;HaplotypeScore=5.3984;MQ=23.42;MQ0=44;MQRankSum=-0.393;QD=4.22;ReadPosRankSum=-0.636;SNPEFF_AMINO_ACID_CHANGE=A101V;SNPEFF_CODON_CHANGE=gCa/gTa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_143767144_143767881;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPIAL4G;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000419275 GT:AD:DP:GQ:PL 0/1:160,88:248:99:1078,0,2291
1 143767628 rs6604514 C T 279.12 FSFilter60;MQFilter40;QDFilter2 AB=0.747;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.948;DB;DP=250;DS;Dels=0.0;FS=63.62;HRun=0;HaplotypeScore=4.2609;MQ=30.47;MQ0=23;MQRankSum=-5.437;QD=1.12;ReadPosRankSum=1.645;SNPEFF_AMINO_ACID_CHANGE=G74D;SNPEFF_CODON_CHANGE=gGt/gAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_143767144_143767881;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPIAL4G;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000419275 GT:AD:DP:GQ:PL 0/1:186,63:250:99:309,0,4400
1 143767643 rs61824238 T C 772.66 FSFilter60;MQFilter40 AB=0.607;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.956;DB;DP=244;DS;Dels=0.0;FS=107.323;HRun=0;HaplotypeScore=3.7179;MQ=33.12;MQ0=13;MQRankSum=-9.029;QD=3.17;ReadPosRankSum=1.581;SNPEFF_AMINO_ACID_CHANGE=H69R;SNPEFF_CODON_CHANGE=cAc/cGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_143767144_143767881;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPIAL4G;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000419275 GT:AD:DP:GQ:PL 0/1:148,96:244:99:803,0,4011
1 143767778 rs6604516 T A 144.67 MQFilter40;QDFilter2 AB=0.551;AC=1;AF=0.50;AN=2;BaseQRankSum=0.524;DB;DP=237;DS;Dels=0.0;FS=2.458;HRun=0;HaplotypeScore=4.8323;MQ=38.95;MQ0=18;MQRankSum=-12.255;QD=0.61;ReadPosRankSum=1.96;SNPEFF_AMINO_ACID_CHANGE=Q24L;SNPEFF_CODON_CHANGE=cAg/cTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_143767144_143767881;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPIAL4G;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000419275 GT:AD:DP:GQ:PL 0/1:130,106:237:99:175,0,4307
1 144013853 rs6600697 T C 601.07 PASS AB=0.671;AC=1;AF=0.50;AN=2;BaseQRankSum=3.889;DB;DP=70;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.7775;MQ=59.47;MQ0=0;MQRankSum=0.55;QD=8.59;ReadPosRankSum=-0.363;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SRGAP2P2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467933 GT:AD:DP:GQ:PL 0/1:47,23:70:99:631,0,1335
1 144013865 rs6600696 T G 746.25 PASS AB=0.622;AC=1;AF=0.50;AN=2;BaseQRankSum=-6.214;DB;DP=82;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.9048;MQ=59.04;MQ0=0;MQRankSum=0.053;QD=8.99;ReadPosRankSum=-2.424;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SRGAP2P2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467933 GT:AD:DP:GQ:PL 0/1:51,31:82:99:776,0,1791
1 144014051 rs1884147 G A 871.20 PASS AB=0.646;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.489;DB;DP=99;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=58.44;MQ0=0;MQRankSum=0.435;QD=8.8;ReadPosRankSum=-0.926;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SRGAP2P2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467933 GT:AD:DP:GQ:PL 0/1:64,35:99:99:901,0,2099
1 144014068 rs1884146 T C 1486.78 PASS AB=0.391;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.9;DB;DP=87;Dels=0.0;FS=3.862;HRun=0;HaplotypeScore=1.6988;MQ=58.22;MQ0=0;MQRankSum=-0.42;QD=17.09;ReadPosRankSum=0.208;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SRGAP2P2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467933 GT:AD:DP:GQ:PL 0/1:34,53:87:99:1517,0,970
1 144014234 rs6600695 A G 38.78 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.026;QD=9.69;ReadPosRankSum=1.026;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SRGAP2P2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467933 GT:AD:DP:GQ:PL 0/1:2,2:4:68.77:69,0,70
1 144169684 . T TC 457.88 PASS AC=2;AF=1.00;AN=2;DP=12;FS=0.0;HRun=1;HaplotypeScore=97.4284;IndelType=I;MQ=17.01;MQ0=2;QD=14.77;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RP3-377D14.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369372 GT:AD:DP:GQ:PL 1/1:3,28:12:34.93:500,35,0
1 144169706 rs138402002 C T 249.01 MQFilter40 AC=2;AF=1.00;AN=2;BaseQRankSum=2.265;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=15.59;MQ0=7;MQRankSum=3.789;QD=6.73;ReadPosRankSum=0.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RP3-377D14.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369372 GT:AD:DP:GQ:PL 1/1:25,12:37:13.34:282,13,0
1 144169738 . T C 153.40 MQFilter40 AB=0.794;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.217;DP=63;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=11.25;MQ0=39;MQRankSum=3.302;QD=2.43;ReadPosRankSum=-1.738;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RP3-377D14.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369372 GT:AD:DP:GQ:PL 0/1:50,13:63:23.32:183,0,23
1 144180817 . G C 47.34 MQFilter40 AC=2;AF=1.00;AN=2;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=30.21;MQ0=1;QD=15.78;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RP3-377D14.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356801 GT:AD:DP:GQ:PL 1/1:1,2:3:6.02:79,6,0
1 144220700 . G C 53.67 MQFilter40;QDFilter2 AB=0.966;AC=1;AF=0.50;AN=2;BaseQRankSum=0.903;DP=232;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=12.81;MQ0=207;MQRankSum=-1.136;QD=0.23;ReadPosRankSum=-0.67;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RP3-377D14.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421555 GT:AD:DP:GQ:PL 0/1:224,8:232:83.67:84,0,485
1 144220777 . T C 2752.07 MQFilter40 AB=0.553;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.459;DP=235;DS;Dels=0.0;FS=18.876;HRun=2;HaplotypeScore=7.4759;MQ=39.93;MQ0=23;MQRankSum=1.111;QD=11.71;ReadPosRankSum=6.02;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RP3-377D14.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421555 GT:AD:DP:GQ:PL 0/1:130,105:235:99:2782,0,3214
1 144220807 . A C 2429.03 MQFilter40 AB=0.63;AC=1;AF=0.50;AN=2;BaseQRankSum=4.467;DP=248;DS;Dels=0.0;FS=13.044;HRun=0;HaplotypeScore=5.1211;MQ=35.29;MQ0=59;MQRankSum=0.566;QD=9.79;ReadPosRankSum=-2.018;SNPEFF_AMINO_ACID_CHANGE=D25A;SNPEFF_CODON_CHANGE=gAt/gCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_144220787_144220959;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RP3-377D14.1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000369373 GT:AD:DP:GQ:PL 0/1:155,91:248:99:2459,0,2896
1 144220850 . T G 164.79 MQFilter40;QDFilter2 AB=0.947;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.871;DP=247;DS;Dels=0.0;FS=37.445;HRun=1;HaplotypeScore=0.6651;MQ=23.14;MQ0=164;MQRankSum=2.732;QD=0.66;ReadPosRankSum=-3.051;SNPEFF_AMINO_ACID_CHANGE=C39W;SNPEFF_CODON_CHANGE=tgT/tgG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_144220787_144220959;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RP3-377D14.1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000369373 GT:AD:DP:GQ:PL 0/1:234,13:247:99:195,0,2044
1 144520905 rs3124577 A C 70.11 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=19.22;MQ0=5;QD=6.37;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AL592284.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000538264 GT:AD:DP:GQ:PL 1/1:0,10:11:9.03:102,9,0
1 144612173 rs2653681 A G 192.09 MQFilter40 AB=0.549;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.055;DB;DP=51;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7987;MQ=28.85;MQ0=1;MQRankSum=-3.206;QD=3.77;ReadPosRankSum=-0.814;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=AL592284.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000476442 GT:AD:DP:GQ:PL 0/1:28,23:51:99:222,0,707
1 144612217 rs3928328 C T 72.64 MQFilter40 AB=0.686;AC=1;AF=0.50;AN=2;BaseQRankSum=0.842;DB;DP=35;Dels=0.0;FS=2.187;HRun=0;HaplotypeScore=0.0;MQ=25.2;MQ0=2;MQRankSum=-0.255;QD=2.08;ReadPosRankSum=-0.96;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=AL592284.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000476442 GT:AD:DP:GQ:PL 0/1:24,11:35:99:103,0,454
1 144612613 rs3009751 A G 237.73 MQFilter40 AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=1.373;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=36.37;MQ0=3;MQRankSum=-0.951;QD=9.91;ReadPosRankSum=0.739;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=AL592284.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000476442 GT:AD:DP:GQ:PL 0/1:10,14:24:99:268,0,267
1 144614931 rs149803590 G A 160.50 MQFilter40 AB=0.593;AC=1;AF=0.50;AN=2;BaseQRankSum=3.085;DB;DP=27;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=34.03;MQ0=2;MQRankSum=-2.689;QD=5.94;ReadPosRankSum=-0.708;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=NBPF8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421407 GT:AD:DP:GQ:PL 0/1:16,11:27:99:190,0,464
1 144615080 . A G 134.58 FSFilter60;MQFilter40;QDFilter2 AB=0.838;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.786;DP=111;Dels=0.0;FS=78.773;HRun=1;HaplotypeScore=2.9108;MQ=35.97;MQ0=5;MQRankSum=-0.827;QD=1.21;ReadPosRankSum=-0.597;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=NBPF8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421407 GT:AD:DP:GQ:PL 0/1:93,18:111:99:165,0,1948
1 144617119 rs12057892 A C 465.24 MQFilter40 AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=1.939;DB;DP=143;Dels=0.0;FS=25.704;HRun=1;HaplotypeScore=0.9958;MQ=38.75;MQ0=21;MQRankSum=-8.495;QD=3.25;ReadPosRankSum=0.938;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=NBPF8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334866 GT:AD:DP:GQ:PL 0/1:77,66:143:99:495,0,2367
1 144617915 . G A 40.25 MQFilter40 AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.488;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9578;MQ=32.62;MQ0=0;MQRankSum=-0.922;QD=2.52;ReadPosRankSum=-1.573;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=NBPF8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334866 GT:AD:DP:GQ:PL 0/1:10,6:16:70.24:70,0,221
1 144617926 . G A 34.23 MQFilter40;QDFilter2 AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.826;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=32.19;MQ0=0;MQRankSum=-1.733;QD=1.9;ReadPosRankSum=-0.796;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=NBPF8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334866 GT:AD:DP:GQ:PL 0/1:12,6:18:64.22:64,0,277
1 144618070 rs55646423 G A 576.05 MQFilter40 AB=0.78;AC=1;AF=0.50;AN=2;BaseQRankSum=7.743;DB;DP=250;DS;Dels=0.0;FS=3.282;HRun=0;HaplotypeScore=2.8293;MQ=30.05;MQ0=29;MQRankSum=-0.77;QD=2.3;ReadPosRankSum=-0.619;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=NBPF8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334866 GT:AD:DP:GQ:PL 0/1:195,55:250:99:606,0,3138
1 144618144 rs61809736 A G 2578.58 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=176;DS;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=2.6641;MQ=24.32;MQ0=16;QD=14.65;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=NBPF8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334866 GT:AD:DP:GQ:PL 1/1:0,175:176:99:2612,243,0
1 144618201 rs61809737 T C 178.24 MQFilter40;QDFilter2 AB=0.803;AC=1;AF=0.50;AN=2;BaseQRankSum=-7.513;DB;DP=232;DS;Dels=0.0;FS=38.997;HRun=1;HaplotypeScore=8.7218;MQ=20.12;MQ0=69;MQRankSum=-0.524;QD=0.77;ReadPosRankSum=-1.644;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=NBPF8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334866 GT:AD:DP:GQ:PL 0/1:184,45:232:99:208,0,2155
1 144618354 rs61809738 T C 161.29 MQFilter40 AB=0.61;AC=1;AF=0.50;AN=2;BaseQRankSum=0.102;DB;DP=59;Dels=0.0;FS=2.997;HRun=1;HaplotypeScore=0.0;MQ=29.32;MQ0=10;MQRankSum=-2.049;QD=2.73;ReadPosRankSum=0.283;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=NBPF8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334866 GT:AD:DP:GQ:PL 0/1:36,23:59:99:191,0,812
1 144619318 rs58974605 G A 1163.87 PASS AB=0.48;AC=1;AF=0.50;AN=2;BaseQRankSum=2.283;DB;DP=123;Dels=0.0;FS=5.858;HRun=2;HaplotypeScore=0.0;MQ=45.48;MQ0=3;MQRankSum=-6.861;QD=9.46;ReadPosRankSum=-0.898;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=NBPF8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334866 GT:AD:DP:GQ:PL 0/1:59,64:123:99:1194,0,1869
1 144619346 rs4649563 G A 1857.65 PASS AB=0.484;AC=1;AF=0.50;AN=2;BaseQRankSum=2.117;DB;DP=185;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=1.8313;MQ=48.53;MQ0=2;MQRankSum=-5.458;QD=10.04;ReadPosRankSum=-0.324;SNPEFF_EFFECT=SPLICE_SITE_ACCEPTOR;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=NBPF8;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000421407 GT:AD:DP:GQ:PL 0/1:89,95:185:99:1888,0,2679
1 144619483 rs4067648 A C 932.44 PASS AB=0.494;AC=1;AF=0.50;AN=2;BaseQRankSum=5.138;DB;DP=79;DS;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=52.12;MQ0=4;MQRankSum=-4.512;QD=11.8;ReadPosRankSum=0.769;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=NBPF8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000448172 GT:AD:DP:GQ:PL 0/1:39,40:79:99:962,0,1110
1 144619903 rs71527379 T A 292.21 MQFilter40 AB=0.785;AC=1;AF=0.50;AN=2;BaseQRankSum=4.4;DB;DP=121;Dels=0.0;FS=33.231;HRun=0;HaplotypeScore=0.0;MQ=27.37;MQ0=10;MQRankSum=0.673;QD=2.41;ReadPosRankSum=0.709;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=NBPF8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000448172 GT:AD:DP:GQ:PL 0/1:95,26:121:99:322,0,1429
1 144620009 . T C 36.44 MQFilter40;QDFilter2 AB=0.822;AC=1;AF=0.50;AN=2;BaseQRankSum=1.32;DP=248;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9159;MQ=9.31;MQ0=156;MQRankSum=-0.406;QD=0.15;ReadPosRankSum=0.708;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=NBPF8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000448172 GT:AD:DP:GQ:PL 0/1:203,44:248:66.43:66,0,252
1 144620091 rs151155946 C T 80.70 MQFilter40;QDFilter2 AB=0.773;AC=1;AF=0.50;AN=2;BaseQRankSum=1.973;DB;DP=203;DS;Dels=0.0;FS=2.769;HRun=0;HaplotypeScore=3.3339;MQ=13.06;MQ0=91;MQRankSum=-1.41;QD=0.4;ReadPosRankSum=0.396;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=NBPF8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000448172 GT:AD:DP:GQ:PL 0/1:157,46:203:99:111,0,391
1 144621374 rs138385062 C A 207.65 MQFilter40;QDFilter2 AB=0.841;AC=1;AF=0.50;AN=2;BaseQRankSum=0.088;DB;DP=171;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=9.57;MQ0=147;MQRankSum=1.435;QD=1.21;ReadPosRankSum=-0.498;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=NBPF8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000423405 GT:AD:DP:GQ:PL 0/1:143,27:171:99:238,0,204
1 144811836 rs320820 G A 194.67 MQFilter40;QDFilter2 AB=0.756;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.307;DB;DP=201;Dels=0.0;FS=52.032;HRun=0;HaplotypeScore=7.773;MQ=28.68;MQ0=19;MQRankSum=-2.922;QD=0.97;ReadPosRankSum=-0.164;SNPEFF_AMINO_ACID_CHANGE=L31;SNPEFF_CODON_CHANGE=ctG/ctA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_144811744_144811957;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF9;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000338347 GT:AD:DP:GQ:PL 0/1:152,49:201:99:225,0,3212
1 144811924 rs320821 T G 4204.27 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=190;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=5.8099;MQ=31.67;MQ0=29;QD=22.01;SNPEFF_AMINO_ACID_CHANGE=S61A;SNPEFF_CODON_CHANGE=Tcc/Gcc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_144811744_144811957;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF9;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000338347 GT:AD:DP:GQ:PL 1/1:0,189:190:99:4204,364,0
1 144815968 . G A 134.80 MQFilter40;QDFilter2 AB=0.89;AC=1;AF=0.50;AN=2;BaseQRankSum=0.525;DP=155;Dels=0.0;FS=19.16;HRun=2;HaplotypeScore=0.734;MQ=26.79;MQ0=24;MQRankSum=1.201;QD=0.86;ReadPosRankSum=-0.018;SNPEFF_AMINO_ACID_CHANGE=V189I;SNPEFF_CODON_CHANGE=Gtt/Att;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_144815936_144816008;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF9;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000338347 GT:AD:DP:GQ:PL 0/1:138,17:155:99:165,0,2206
1 144816175 rs61807095 C T 222.85 MQFilter40 AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=2.051;DB;DP=24;Dels=0.0;FS=3.274;HRun=3;HaplotypeScore=0.0;MQ=36.52;MQ0=4;MQRankSum=-0.532;QD=9.29;ReadPosRankSum=0.38;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465793 GT:AD:DP:GQ:PL 0/1:15,9:24:99:253,0,321
1 144816305 rs320826 C G 71.16 MQFilter40 AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.55;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9832;MQ=37.46;MQ0=2;MQRankSum=-0.55;QD=7.91;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465793 GT:AD:DP:GQ:PL 0/1:6,3:9:99:101,0,106
1 144825577 rs633899 G A 1520.46 MQFilter40 AB=0.693;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.994;DB;DP=212;DS;Dels=0.0;FS=2.312;HRun=0;HaplotypeScore=0.9993;MQ=32.34;MQ0=41;MQRankSum=2.576;QD=7.17;ReadPosRankSum=-0.091;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281815 GT:AD:DP:GQ:PL 0/1:147,65:212:99:1550,0,2626
1 144825681 rs662222 T C 324.66 MQFilter40 AB=0.639;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.549;DB;DP=144;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.6643;MQ=19.86;MQ0=82;MQRankSum=-0.779;QD=2.25;ReadPosRankSum=1.615;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281815 GT:AD:DP:GQ:PL 0/1:92,52:144:99:355,0,800
1 144826097 . C T 120.08 MQFilter40;QDFilter2 AB=0.768;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.731;DP=101;Dels=0.0;FS=8.226;HRun=1;HaplotypeScore=4.298;MQ=20.12;MQ0=11;MQRankSum=-0.788;QD=1.19;ReadPosRankSum=-0.123;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281815 GT:AD:DP:GQ:PL 0/1:76,23:101:99:150,0,1039
1 144826128 . T G 97.34 MQFilter40;QDFilter2 AB=0.805;AC=1;AF=0.50;AN=2;BaseQRankSum=0.551;DP=170;Dels=0.0;FS=21.66;HRun=0;HaplotypeScore=3.8033;MQ=16.3;MQ0=54;MQRankSum=-0.92;QD=0.57;ReadPosRankSum=0.691;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281815 GT:AD:DP:GQ:PL 0/1:136,33:170:99:127,0,1164
1 144828299 . C T 359.07 MQFilter40 AB=0.308;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.372;DP=26;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=2.9545;MQ=29.59;MQ0=3;MQRankSum=-1.57;QD=13.81;ReadPosRankSum=-0.1;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000488888 GT:AD:DP:GQ:PL 0/1:8,18:26:99:389,0,136
1 144828300 . A G 352.14 MQFilter40 AB=0.308;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.702;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.9545;MQ=29.59;MQ0=3;MQRankSum=-1.57;QD=13.54;ReadPosRankSum=0.033;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000488888 GT:AD:DP:GQ:PL 0/1:8,18:26:99:382,0,137
1 144828335 rs4999139 T C 394.44 MQFilter40 AB=0.341;AC=1;AF=0.50;AN=2;BaseQRankSum=1.861;DB;DP=45;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.9711;MQ=32.26;MQ0=8;MQRankSum=-3.241;QD=8.77;ReadPosRankSum=3.305;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000488888 GT:AD:DP:GQ:PL 0/1:15,29:45:99:424,0,438
1 144828404 rs597581 T A 1699.22 MQFilter40 AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=5.413;DB;DP=199;Dels=0.0;FS=8.878;HRun=2;HaplotypeScore=10.5862;MQ=38.22;MQ0=14;MQRankSum=-0.231;QD=8.54;ReadPosRankSum=1.079;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000488888 GT:AD:DP:GQ:PL 0/1:112,87:199:99:1729,0,2985
1 144828418 rs79756393 C T 514.56 MQFilter40 AB=0.852;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.956;DB;DP=231;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=7.6966;MQ=36.72;MQ0=29;MQRankSum=-2.286;QD=2.23;ReadPosRankSum=1.82;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000488888 GT:AD:DP:GQ:PL 0/1:190,33:231:99:545,0,4746
1 144828436 rs67593205 CT C 569.15 PASS AB=0.82;AC=1;AF=0.50;AN=2;BaseQRankSum=4.266;DB;DP=192;DS;FS=3.306;HRun=5;HaplotypeScore=1797.8406;IndelType=D;MQ=35.83;MQ0=44;MQRankSum=-3.089;QD=2.28;ReadPosRankSum=1.771;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000488888 GT:AD:DP:GQ:PL 0/1:195,55:192:99:608,0,5450
1 144828449 . A T 635.90 HaplotypeScoreFilter13;MQFilter40 AB=0.736;AC=1;AF=0.50;AN=2;BaseQRankSum=3.843;DP=250;DS;Dels=0.0;FS=2.385;HRun=1;HaplotypeScore=62.6101;MQ=35.55;MQ0=46;MQRankSum=-3.127;QD=2.54;ReadPosRankSum=1.938;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000488888 GT:AD:DP:GQ:PL 0/1:184,66:250:99:666,0,4548
1 144828454 rs9424774 G C 3714.60 HaplotypeScoreFilter13;MQFilter40 AB=0.22;AC=1;AF=0.50;AN=2;BaseQRankSum=0.524;DB;DP=250;DS;Dels=0.0;FS=1.953;HRun=0;HaplotypeScore=65.7265;MQ=36.02;MQ0=47;MQRankSum=-7.756;QD=14.86;ReadPosRankSum=2.466;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000488888 GT:AD:DP:GQ:PL 0/1:55,195:250:99:3715,0,1400
1 144828465 rs9424775 T G 592.91 MQFilter40 AB=0.8;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.872;DB;DP=250;DS;Dels=0.0;FS=8.307;HRun=0;HaplotypeScore=9.6784;MQ=35.28;MQ0=48;MQRankSum=-1.606;QD=2.37;ReadPosRankSum=-1.069;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000488888 GT:AD:DP:GQ:PL 0/1:200,50:250:99:623,0,4507
1 144828484 rs78376309 G A 59.90 MQFilter40;QDFilter2 AB=0.868;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.324;DB;DP=243;DS;Dels=0.0;FS=3.998;HRun=0;HaplotypeScore=3.3761;MQ=32.31;MQ0=65;MQRankSum=-0.828;QD=0.25;ReadPosRankSum=-2.281;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000488888 GT:AD:DP:GQ:PL 0/1:210,32:243:89.89:90,0,4078
1 144828548 . G A 66.14 HaplotypeScoreFilter13;MQFilter40;QDFilter2 AB=0.872;AC=1;AF=0.50;AN=2;BaseQRankSum=3.677;DP=250;DS;Dels=0.0;FS=55.55;HRun=0;HaplotypeScore=32.0334;MQ=33.15;MQ0=36;MQRankSum=-0.801;QD=0.26;ReadPosRankSum=-0.584;SNPEFF_AMINO_ACID_CHANGE=G130S;SNPEFF_CODON_CHANGE=Ggc/Agc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_144828541_144830300;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF9;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000281815 GT:AD:DP:GQ:PL 0/1:218,32:250:96.14:96,0,5009
1 144828583 rs28712116 G A 364.26 FSFilter60;MQFilter40;QDFilter2 AB=0.804;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.053;DB;DP=250;DS;Dels=0.0;FS=95.948;HRun=0;HaplotypeScore=6.8799;MQ=36.63;MQ0=19;MQRankSum=-2.739;QD=1.46;ReadPosRankSum=0.839;SNPEFF_AMINO_ACID_CHANGE=L141;SNPEFF_CODON_CHANGE=ttG/ttA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_144828541_144830300;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF9;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000281815 GT:AD:DP:GQ:PL 0/1:201,49:250:99:394,0,5370
1 144828764 rs114576842 G T 45.15 MQFilter40;QDFilter2 AB=0.815;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.88;DB;DP=250;DS;Dels=0.0;FS=7.733;HRun=0;HaplotypeScore=10.3286;MQ=38.96;MQ0=12;MQRankSum=-5.945;QD=0.18;ReadPosRankSum=1.088;SNPEFF_AMINO_ACID_CHANGE=E202*;SNPEFF_CODON_CHANGE=Gaa/Taa;SNPEFF_EFFECT=STOP_GAINED;SNPEFF_EXON_ID=exon_1_144828541_144830300;SNPEFF_FUNCTIONAL_CLASS=NONSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF9;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000281815 GT:AD:DP:GQ:PL 0/1:203,46:250:75.14:75,0,5642
1 144828765 rs1043478 A T 49.93 MQFilter40;QDFilter2 AB=0.803;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.741;DB;DP=250;DS;Dels=0.0;FS=10.938;HRun=0;HaplotypeScore=10.3286;MQ=39.05;MQ0=10;MQRankSum=-6.837;QD=0.2;ReadPosRankSum=0.938;SNPEFF_AMINO_ACID_CHANGE=E202V;SNPEFF_CODON_CHANGE=gAa/gTa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_144828541_144830300;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF9;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000281815 GT:AD:DP:GQ:PL 0/1:187,46:250:79.92:80,0,5699
1 144828784 rs78667364 A G 687.61 MQFilter40 AB=0.727;AC=1;AF=0.50;AN=2;BaseQRankSum=0.124;DB;DP=250;DS;Dels=0.0;FS=8.237;HRun=1;HaplotypeScore=1.8533;MQ=38.44;MQ0=18;MQRankSum=-4.933;QD=2.75;ReadPosRankSum=-0.972;SNPEFF_AMINO_ACID_CHANGE=*208;SNPEFF_CODON_CHANGE=taA/taG;SNPEFF_EFFECT=SYNONYMOUS_STOP;SNPEFF_EXON_ID=exon_1_144828541_144830300;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF9;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000281815 GT:AD:DP:GQ:PL 0/1:181,68:250:99:718,0,4951
1 144828845 rs61807990 A T 830.60 MQFilter40 AB=0.72;AC=1;AF=0.50;AN=2;BaseQRankSum=3.966;DB;DP=232;DS;Dels=0.0;FS=8.707;HRun=3;HaplotypeScore=3.6043;MQ=34.5;MQ0=24;MQRankSum=-1.537;QD=3.58;ReadPosRankSum=-1.194;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000488888 GT:AD:DP:GQ:PL 0/1:167,65:232:99:861,0,3348
1 144828857 . C G 732.50 HaplotypeScoreFilter13;MQFilter40 AB=0.731;AC=1;AF=0.50;AN=2;BaseQRankSum=1.382;DP=213;DS;Dels=0.0;FS=6.639;HRun=0;HaplotypeScore=15.8364;MQ=33.18;MQ0=24;MQRankSum=-2.075;QD=3.44;ReadPosRankSum=-1.221;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000488888 GT:AD:DP:GQ:PL 0/1:155,57:213:99:762,0,2931
1 144828910 rs12124435 A T 458.86 MQFilter40 AB=0.661;AC=1;AF=0.50;AN=2;BaseQRankSum=5.654;DB;DP=112;DS;Dels=0.0;FS=2.915;HRun=2;HaplotypeScore=0.0;MQ=29.25;MQ0=13;MQRankSum=-0.563;QD=4.06;ReadPosRankSum=-0.205;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000488888 GT:AD:DP:GQ:PL 0/1:74,38:112:99:489,0,1489
1 144852321 rs1055315 C A 77.40 PASS AB=0.688;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.024;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=54.17;MQ0=1;MQRankSum=-1.893;QD=4.84;ReadPosRankSum=1.763;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000526664 GT:AD:DP:GQ:PL 0/1:11,5:16:99:107,0,345
1 144852390 rs61804988 C T 210.22 PASS AB=0.63;AC=1;AF=0.50;AN=2;BaseQRankSum=0.481;DB;DP=27;Dels=0.0;FS=1.697;HRun=0;HaplotypeScore=0.7887;MQ=53.78;MQ0=1;MQRankSum=-1.5;QD=7.79;ReadPosRankSum=1.104;SNPEFF_AMINO_ACID_CHANGE=W2351*;SNPEFF_CODON_CHANGE=tgG/tgA;SNPEFF_EFFECT=STOP_GAINED;SNPEFF_EXON_ID=exon_1_144851427_144852443;SNPEFF_FUNCTIONAL_CLASS=NONSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000369356 GT:AD:DP:GQ:PL 0/1:17,10:27:99:240,0,487
1 144852476 rs1616066 T C 61.40 PASS AB=0.704;AC=1;AF=0.50;AN=2;BaseQRankSum=1.513;DB;DP=27;Dels=0.0;FS=7.166;HRun=0;HaplotypeScore=4.7654;MQ=41.52;MQ0=0;MQRankSum=-2.151;QD=2.27;ReadPosRankSum=2.044;SNPEFF_AMINO_ACID_CHANGE=P2235;SNPEFF_CODON_CHANGE=ccA/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_144851424_144852499;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:19,8:27:91.39:91,0,581
1 144852545 rs1699760 C T 151.53 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.002;DB;DP=15;Dels=0.0;FS=11.553;HRun=0;HaplotypeScore=2.7823;MQ=46.23;MQ0=0;MQRankSum=2.062;QD=10.1;ReadPosRankSum=1.12;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000526664 GT:AD:DP:GQ:PL 0/1:9,6:15:99:182,0,229
1 144852646 rs4649487 G A 32.76 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.067;DB;DP=8;Dels=0.0;FS=3.31;HRun=0;HaplotypeScore=1.865;MQ=45.7;MQ0=0;MQRankSum=1.067;QD=4.1;ReadPosRankSum=0.572;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000526664 GT:AD:DP:GQ:PL 0/1:6,2:8:62.76:63,0,100
1 144853897 rs144314008 C A 35.34 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=45.96;MQ0=0;MQRankSum=-0.736;QD=11.78;ReadPosRankSum=-0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000526664 GT:AD:DP:GQ:PL 0/1:1,2:3:27.10:65,0,27
1 144853935 rs78508148 G C 38.78 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=45.96;MQ0=0;MQRankSum=-0.736;QD=12.93;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000526664 GT:AD:DP:GQ:PL 0/1:1,2:3:32.73:69,0,33
1 144853993 rs1699759 G A 40.31 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.16;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000526664 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:72,6,0
1 144854052 rs1698584 G A 107.85 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.731;QD=21.57;ReadPosRankSum=-0.731;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000526664 GT:AD:DP:GQ:PL 0/1:1,4:5:27.96:138,0,28
1 144854083 rs1699758 G A 90.96 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9882;MQ=57.66;MQ0=0;MQRankSum=0.741;QD=9.1;ReadPosRankSum=0.365;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000526664 GT:AD:DP:GQ:PL 0/1:6,4:10:99:121,0,202
1 144854180 rs4997148 T C 124.57 PASS AB=0.724;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.486;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.96;MQ0=1;MQRankSum=-1.592;QD=4.3;ReadPosRankSum=0.955;SNPEFF_AMINO_ACID_CHANGE=A2222;SNPEFF_CODON_CHANGE=gcA/gcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_144854165_144854211;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:21,8:29:99:155,0,636
1 144854277 rs1699757 A G 326.87 PASS AB=0.381;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.867;DB;DP=21;Dels=0.0;FS=4.242;HRun=0;HaplotypeScore=0.0;MQ=54.72;MQ0=2;MQRankSum=0.95;QD=15.57;ReadPosRankSum=0.124;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000526664 GT:AD:DP:GQ:PL 0/1:8,13:21:99:357,0,270
1 144854351 rs599643 A C 506.48 PASS AB=0.105;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.054;DB;DP=19;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=57.61;MQ0=0;MQRankSum=-0.351;QD=26.66;ReadPosRankSum=-2.037;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000526664 GT:AD:DP:GQ:PL 0/1:2,17:19:32.83:536,0,33
1 144854376 rs2274128 C A 102.81 PASS AB=0.773;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.95;DB;DP=22;Dels=0.0;FS=2.605;HRun=0;HaplotypeScore=4.9974;MQ=56.85;MQ0=0;MQRankSum=-1.197;QD=4.67;ReadPosRankSum=1.445;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000526664 GT:AD:DP:GQ:PL 0/1:17,5:22:99:133,0,597
1 144854380 rs2798857 T C 370.90 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=2.341;DB;DP=22;Dels=0.0;FS=2.43;HRun=0;HaplotypeScore=4.9974;MQ=56.85;MQ0=0;MQRankSum=1.154;QD=16.86;ReadPosRankSum=0.363;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000526664 GT:AD:DP:GQ:PL 0/1:10,12:22:99:401,0,320
1 144854397 rs833193 T C 660.94 PASS AB=0.16;AC=1;AF=0.50;AN=2;BaseQRankSum=1.665;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9958;MQ=55.96;MQ0=1;MQRankSum=-1.588;QD=26.44;ReadPosRankSum=1.898;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000526664 GT:AD:DP:GQ:PL 0/1:4,21:25:79.32:691,0,79
1 144854412 rs77812232 A C 242.19 PASS AB=0.679;AC=1;AF=0.50;AN=2;BaseQRankSum=2.032;DB;DP=28;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=53.42;MQ0=1;MQRankSum=0.952;QD=8.65;ReadPosRankSum=1.723;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000526664 GT:AD:DP:GQ:PL 0/1:19,9:28:99:272,0,577
1 144854454 rs2274129 A C 136.63 PASS AB=0.784;AC=1;AF=0.50;AN=2;BaseQRankSum=3.626;DB;DP=51;Dels=0.0;FS=2.451;HRun=0;HaplotypeScore=0.0;MQ=55.8;MQ0=1;MQRankSum=-2.413;QD=2.68;ReadPosRankSum=1.467;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000526664 GT:AD:DP:GQ:PL 0/1:40,11:51:99:167,0,1441
1 144854491 rs2798856 T G 731.06 PASS AB=0.701;AC=1;AF=0.50;AN=2;BaseQRankSum=1.123;DB;DP=97;Dels=0.0;FS=2.216;HRun=0;HaplotypeScore=0.8667;MQ=54.4;MQ0=0;MQRankSum=2.675;QD=7.54;ReadPosRankSum=0.634;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000526664 GT:AD:DP:GQ:PL 0/1:68,29:97:99:761,0,1994
1 144854497 rs2653676 A G 751.73 HaplotypeScoreFilter13 AB=0.695;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.981;DB;DP=105;Dels=0.0;FS=2.155;HRun=0;HaplotypeScore=25.1292;MQ=53.88;MQ0=0;MQRankSum=3.171;QD=7.16;ReadPosRankSum=0.491;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000526664 GT:AD:DP:GQ:PL 0/1:73,32:105:99:782,0,2193
1 144854501 rs142453097 CCT C 265.97 PASS AB=0.882;AC=1;AF=0.50;AN=2;BaseQRankSum=3.623;DB;DP=110;FS=4.621;HRun=0;HaplotypeScore=873.8842;IndelType=D;MQ=54.75;MQ0=0;MQRankSum=2.256;QD=2.37;ReadPosRankSum=0.244;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000526664 GT:AD:DP:GQ:PL 0/1:97,15:110:99:305,0,4882
1 144854528 rs78461771 A G 606.87 HaplotypeScoreFilter13 AB=0.734;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.62;DB;DP=139;Dels=0.0;FS=17.311;HRun=0;HaplotypeScore=22.3623;MQ=53.51;MQ0=1;MQRankSum=-7.74;QD=4.37;ReadPosRankSum=-0.199;SNPEFF_AMINO_ACID_CHANGE=I2208;SNPEFF_CODON_CHANGE=atT/atC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_144854518_144854656;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:102,37:139:99:637,0,3272
1 144854537 rs3851872 T C 1342.60 HaplotypeScoreFilter13 AB=0.581;AC=1;AF=0.50;AN=2;BaseQRankSum=2.826;DB;DP=136;Dels=0.0;FS=4.872;HRun=0;HaplotypeScore=21.5608;MQ=53.99;MQ0=1;MQRankSum=-4.649;QD=9.87;ReadPosRankSum=-0.132;SNPEFF_AMINO_ACID_CHANGE=E2205;SNPEFF_CODON_CHANGE=gaA/gaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_144854518_144854656;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:79,57:136:99:1373,0,2498
1 144854581 rs78371650 T C 2123.29 PASS AB=0.515;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.107;DB;DP=169;Dels=0.0;FS=1.265;HRun=0;HaplotypeScore=0.0;MQ=54.39;MQ0=2;MQRankSum=-1.167;QD=12.56;ReadPosRankSum=-1.319;SNPEFF_AMINO_ACID_CHANGE=T2191A;SNPEFF_CODON_CHANGE=Act/Gct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_144854518_144854656;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:87,82:169:99:2153,0,2603
1 144854594 rs79028512 G T 1004.08 HaplotypeScoreFilter13 AB=0.724;AC=1;AF=0.50;AN=2;BaseQRankSum=-6.365;DB;DP=170;Dels=0.0;FS=4.347;HRun=0;HaplotypeScore=87.5658;MQ=55.11;MQ0=2;MQRankSum=-5.485;QD=5.91;ReadPosRankSum=0.432;SNPEFF_AMINO_ACID_CHANGE=L2186;SNPEFF_CODON_CHANGE=ctC/ctA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_144854518_144854656;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:123,47:170:99:1034,0,3963
1 144854597 rs3851873 T C 1223.46 HaplotypeScoreFilter13 AB=0.366;AC=1;AF=0.50;AN=2;BaseQRankSum=4.452;DB;DP=176;Dels=0.0;FS=6.919;HRun=1;HaplotypeScore=92.295;MQ=55.05;MQ0=2;MQRankSum=-1.411;QD=6.95;ReadPosRankSum=0.049;SNPEFF_AMINO_ACID_CHANGE=R2185;SNPEFF_CODON_CHANGE=cgA/cgG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_144854518_144854656;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:64,111:176:99:1253,0,2045
1 144854675 rs79179886 C T 300.66 QDFilter2 AB=0.863;AC=1;AF=0.50;AN=2;BaseQRankSum=1.874;DB;DP=153;Dels=0.0;FS=2.265;HRun=1;HaplotypeScore=4.3321;MQ=55.96;MQ0=0;MQRankSum=0.804;QD=1.97;ReadPosRankSum=0.024;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000526664 GT:AD:DP:GQ:PL 0/1:132,21:153:99:331,0,4165
1 144854730 rs75855616 A G 184.71 PASS AB=0.825;AC=1;AF=0.50;AN=2;BaseQRankSum=1.622;DB;DP=63;Dels=0.0;FS=2.366;HRun=0;HaplotypeScore=1.4538;MQ=57.83;MQ0=0;MQRankSum=-1.032;QD=2.93;ReadPosRankSum=0.221;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000526664 GT:AD:DP:GQ:PL 0/1:52,11:63:99:215,0,1875
1 144854750 rs75538208 G A 87.76 PASS AB=0.814;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.745;DB;DP=43;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.07;MQ0=1;MQRankSum=-0.052;QD=2.04;ReadPosRankSum=-1.923;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000526664 GT:AD:DP:GQ:PL 0/1:35,8:43:99:118,0,1203
1 144854793 rs5004098 C T 300.70 PASS AB=0.565;AC=1;AF=0.50;AN=2;BaseQRankSum=3.66;DB;DP=23;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.8271;MQ=54.44;MQ0=1;MQRankSum=0.099;QD=13.07;ReadPosRankSum=1.154;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000526664 GT:AD:DP:GQ:PL 0/1:13,10:23:99:331,0,327
1 144854799 rs5004097 C T 231.12 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.444;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.995;MQ=54.17;MQ0=1;MQRankSum=-0.076;QD=10.51;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000526664 GT:AD:DP:GQ:PL 0/1:12,10:22:99:261,0,372
1 144854836 rs61805002 C T 57.60 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=0.466;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.36;MQ0=0;MQRankSum=1.031;QD=5.24;ReadPosRankSum=-1.031;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000526664 GT:AD:DP:GQ:PL 0/1:6,5:11:87.59:88,0,190
1 144854844 rs61805003 A T 55.68 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=2.054;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=51.77;MQ0=0;MQRankSum=0.248;QD=6.19;ReadPosRankSum=0.248;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000526664 GT:AD:DP:GQ:PL 0/1:6,3:9:85.67:86,0,202
1 144855812 rs1699754 T C 63.99 PASS AB=0.739;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.295;DB;DP=23;Dels=0.0;FS=2.197;HRun=1;HaplotypeScore=0.0;MQ=54.75;MQ0=0;MQRankSum=-3.606;QD=2.78;ReadPosRankSum=1.225;SNPEFF_AMINO_ACID_CHANGE=S2141;SNPEFF_CODON_CHANGE=tcA/tcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_144855740_144855883;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:17,6:23:93.99:94,0,626
1 144855866 rs1698582 A G 88.65 PASS AB=0.742;AC=1;AF=0.50;AN=2;BaseQRankSum=1.377;DB;DP=31;Dels=0.0;FS=4.809;HRun=0;HaplotypeScore=0.0;MQ=51.76;MQ0=0;MQRankSum=-3.95;QD=2.86;ReadPosRankSum=0.655;SNPEFF_AMINO_ACID_CHANGE=G2123;SNPEFF_CODON_CHANGE=ggT/ggC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_144855740_144855883;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:23,8:31:99:119,0,635
1 144855935 rs1698581 A G 93.95 PASS AB=0.696;AC=1;AF=0.50;AN=2;BaseQRankSum=0.301;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=51.53;MQ0=0;MQRankSum=-3.575;QD=4.08;ReadPosRankSum=0.167;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481227 GT:AD:DP:GQ:PL 0/1:16,7:23:99:124,0,471
1 144856780 rs61805019 G A 46.61 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=1.395;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=47.71;MQ0=0;MQRankSum=-1.758;QD=2.91;ReadPosRankSum=0.182;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481227 GT:AD:DP:GQ:PL 0/1:12,4:16:76.60:77,0,436
1 144857068 rs905324 A T 573.69 PASS AB=0.612;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.898;DB;DP=49;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=48.87;MQ0=0;MQRankSum=0.913;QD=11.71;ReadPosRankSum=-0.852;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481227 GT:AD:DP:GQ:PL 0/1:30,19:49:99:604,0,882
1 144857436 rs1778132 G A 336.18 MQFilter40 AB=0.553;AC=1;AF=0.50;AN=2;BaseQRankSum=2.848;DB;DP=38;Dels=0.0;FS=2.447;HRun=1;HaplotypeScore=0.0;MQ=34.68;MQ0=0;MQRankSum=0.499;QD=8.85;ReadPosRankSum=0.352;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481227 GT:AD:DP:GQ:PL 0/1:21,17:38:99:366,0,487
1 144857876 rs1698578 T G 250.54 PASS AB=0.474;AC=1;AF=0.50;AN=2;BaseQRankSum=2.245;DB;DP=19;Dels=0.0;FS=3.245;HRun=0;HaplotypeScore=0.0;MQ=51.15;MQ0=0;MQRankSum=0.612;QD=13.19;ReadPosRankSum=-1.429;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479369 GT:AD:DP:GQ:PL 0/1:9,10:19:99:281,0,307
1 144859624 rs1699820 T C 121.05 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=1.067;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9933;MQ=51.31;MQ0=0;MQRankSum=-1.067;QD=15.13;ReadPosRankSum=0.572;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479369 GT:AD:DP:GQ:PL 0/1:2,6:8:59.61:151,0,60
1 144859720 rs678786 G C 801.64 PASS AB=0.231;AC=1;AF=0.50;AN=2;BaseQRankSum=2.417;DB;DP=39;Dels=0.0;FS=1.869;HRun=3;HaplotypeScore=0.0;MQ=55.79;MQ0=0;MQRankSum=-0.283;QD=20.55;ReadPosRankSum=-1.683;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479369 GT:AD:DP:GQ:PL 0/1:9,30:39:99:832,0,219
1 144860026 rs1699819 G C 995.53 PASS AB=0.622;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.804;DB;DP=98;Dels=0.0;FS=4.583;HRun=0;HaplotypeScore=0.9832;MQ=54.41;MQ0=0;MQRankSum=0.019;QD=10.16;ReadPosRankSum=-1.431;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479369 GT:AD:DP:GQ:PL 0/1:61,37:98:99:1026,0,1897
1 144860131 rs1699818 A G 243.10 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=2.358;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=51.73;MQ0=1;MQRankSum=0.529;QD=13.51;ReadPosRankSum=0.337;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479369 GT:AD:DP:GQ:PL 0/1:10,8:18:99:273,0,296
1 144863130 rs61806601 G A 69.64 PASS AB=0.789;AC=1;AF=0.50;AN=2;BaseQRankSum=2.45;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9159;MQ=48.5;MQ0=0;MQRankSum=-0.45;QD=3.67;ReadPosRankSum=0.25;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000494734 GT:AD:DP:GQ:PL 0/1:15,4:19:99:100,0,453
1 144863207 rs1698593 C T 238.34 PASS AB=0.758;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.867;DB;DP=63;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=7.9536;MQ=50.87;MQ0=0;MQRankSum=-3.006;QD=3.78;ReadPosRankSum=-0.611;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000494734 GT:AD:DP:GQ:PL 0/1:47,15:63:99:268,0,1579
1 144863208 rs1699813 A G 466.36 PASS AB=0.629;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.861;DB;DP=63;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=7.9536;MQ=50.87;MQ0=0;MQRankSum=-2.939;QD=7.4;ReadPosRankSum=0.259;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000494734 GT:AD:DP:GQ:PL 0/1:39,23:63:99:496,0,1252
1 144863401 rs71225704 T C 675.94 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=1.618;DB;DP=124;Dels=0.0;FS=22.578;HRun=1;HaplotypeScore=4.3381;MQ=52.56;MQ0=1;MQRankSum=2.5;QD=5.45;ReadPosRankSum=0.321;SNPEFF_AMINO_ACID_CHANGE=E1895G;SNPEFF_CODON_CHANGE=gAg/gGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_144863318_144863442;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:93,31:124:99:706,0,3146
1 144863505 rs642016 A G 102.70 PASS AB=0.833;AC=1;AF=0.50;AN=2;BaseQRankSum=0.207;DB;DP=48;Dels=0.0;FS=2.184;HRun=1;HaplotypeScore=0.9989;MQ=55.56;MQ0=0;MQRankSum=-0.954;QD=2.14;ReadPosRankSum=-0.346;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000494734 GT:AD:DP:GQ:PL 0/1:40,8:48:99:133,0,1432
1 144863613 rs1699812 C T 229.59 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=1.733;DB;DP=10;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.9469;MQ=59.71;MQ0=0;MQRankSum=0.48;QD=22.96;ReadPosRankSum=0.48;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000494734 GT:AD:DP:GQ:PL 0/1:2,8:10:34.88:260,0,35
1 144864454 rs1747948 G A 67.22 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.307;DB;DP=9;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.02;MQ0=0;MQRankSum=0.361;QD=7.47;ReadPosRankSum=0.361;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000494734 GT:AD:DP:GQ:PL 0/1:5,4:9:97.22:97,0,184
1 144865850 rs1613780 G T 2833.95 PASS AB=0.587;AC=1;AF=0.50;AN=2;BaseQRankSum=0.522;DB;DP=242;DS;Dels=0.0;FS=3.736;HRun=2;HaplotypeScore=1.5661;MQ=59.78;MQ0=0;MQRankSum=-0.455;QD=11.71;ReadPosRankSum=-0.224;SNPEFF_AMINO_ACID_CHANGE=D1804E;SNPEFF_CODON_CHANGE=gaC/gaA;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_144865810_144865929;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:142,100:242:99:2864,0,4519
1 144866400 rs924666 T C 420.81 PASS AB=0.481;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.334;DB;DP=27;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9894;MQ=58.27;MQ0=0;MQRankSum=0.024;QD=15.59;ReadPosRankSum=-2.305;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:13,14:27:99:451,0,446
1 144866509 rs924667 G A 2365.62 PASS AB=0.45;AC=1;AF=0.50;AN=2;BaseQRankSum=7.206;DB;DP=131;Dels=0.0;FS=2.093;HRun=1;HaplotypeScore=1.8928;MQ=59.68;MQ0=0;MQRankSum=1.444;QD=18.06;ReadPosRankSum=0.866;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:59,72:131:99:2396,0,1612
1 144866643 rs1620560 G A 3077.73 PASS AB=0.473;AC=1;AF=0.50;AN=2;BaseQRankSum=2.043;DB;DP=205;DS;Dels=0.0;FS=5.598;HRun=0;HaplotypeScore=2.7145;MQ=59.78;MQ0=0;MQRankSum=0.052;QD=15.01;ReadPosRankSum=-0.529;SNPEFF_AMINO_ACID_CHANGE=R1761C;SNPEFF_CODON_CHANGE=Cgc/Tgc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_144866592_144866723;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:97,108:205:99:3108,0,2939
1 144866662 rs1064044 T C 3004.18 PASS AB=0.438;AC=1;AF=0.50;AN=2;BaseQRankSum=-6.413;DB;DP=185;DS;Dels=0.0;FS=8.722;HRun=0;HaplotypeScore=1.9562;MQ=59.75;MQ0=0;MQRankSum=1.909;QD=16.24;ReadPosRankSum=-1.09;SNPEFF_AMINO_ACID_CHANGE=E1754;SNPEFF_CODON_CHANGE=gaA/gaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_144866592_144866723;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:81,104:185:99:3034,0,2638
1 144868170 rs1628310 C T 1018.29 PASS AB=0.507;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.425;DB;DP=73;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=59.74;MQ0=0;MQRankSum=1.683;QD=13.95;ReadPosRankSum=-0.899;SNPEFF_AMINO_ACID_CHANGE=A1651T;SNPEFF_CODON_CHANGE=Gcc/Acc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_144867921_144868172;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:37,36:73:99:1048,0,1104
1 144868204 rs1747951 A C 609.40 PASS AB=0.588;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.254;DB;DP=51;Dels=0.0;FS=9.237;HRun=0;HaplotypeScore=0.0;MQ=59.63;MQ0=0;MQRankSum=-0.048;QD=11.95;ReadPosRankSum=-0.794;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:30,21:51:99:639,0,954
1 144868239 rs1618966 G A 90.01 PASS AB=0.839;AC=1;AF=0.50;AN=2;BaseQRankSum=0.457;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.671;QD=2.9;ReadPosRankSum=0.618;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:26,5:31:99:120,0,944
1 144868350 rs677338 T C 84.91 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.23;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:117,9,0
1 144871738 rs1698605 C A 1263.87 PASS AB=0.557;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.92;DB;DP=106;Dels=0.0;FS=2.61;HRun=0;HaplotypeScore=0.9894;MQ=59.78;MQ0=0;MQRankSum=0.978;QD=11.92;ReadPosRankSum=-0.42;SNPEFF_AMINO_ACID_CHANGE=A1742S;SNPEFF_CODON_CHANGE=Gct/Tct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_144871696_144871881;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000369354 GT:AD:DP:GQ:PL 0/1:59,47:106:99:1294,0,1784
1 144871755 rs1778159 A T 1375.87 PASS AB=0.543;AC=1;AF=0.50;AN=2;BaseQRankSum=2.844;DB;DP=116;Dels=0.0;FS=7.366;HRun=0;HaplotypeScore=0.0;MQ=59.8;MQ0=0;MQRankSum=-0.011;QD=11.86;ReadPosRankSum=0.741;SNPEFF_AMINO_ACID_CHANGE=V1736E;SNPEFF_CODON_CHANGE=gTg/gAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_144871696_144871881;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000369354 GT:AD:DP:GQ:PL 0/1:63,53:116:99:1406,0,1849
1 144871782 rs1778158 A G 1251 PASS AB=0.51;AC=1;AF=0.50;AN=2;BaseQRankSum=1.573;DB;DP=104;Dels=0.0;FS=0.735;HRun=2;HaplotypeScore=1.6918;MQ=59.56;MQ0=0;MQRankSum=2.021;QD=12.03;ReadPosRankSum=0.535;SNPEFF_AMINO_ACID_CHANGE=L1727P;SNPEFF_CODON_CHANGE=cTc/cCc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_144871696_144871881;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000369354 GT:AD:DP:GQ:PL 0/1:53,51:104:99:1281,0,1537
1 144871889 rs1698606 A C 502.19 PASS AB=0.58;AC=1;AF=0.50;AN=2;BaseQRankSum=0.649;DB;DP=50;Dels=0.0;FS=1.407;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.73;QD=10.04;ReadPosRankSum=0.472;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:29,21:50:99:532,0,995
1 144873794 rs1610833 C T 1262.66 PASS AB=0.466;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.013;DB;DP=73;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9832;MQ=60.0;MQ0=0;MQRankSum=-0.006;QD=17.3;ReadPosRankSum=1.189;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:34,39:73:99:1293,0,1131
1 144873818 rs1610566 A G 1626.16 PASS AB=0.461;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.92;DB;DP=103;Dels=0.0;FS=10.941;HRun=0;HaplotypeScore=2.4078;MQ=59.78;MQ0=0;MQRankSum=0.504;QD=15.79;ReadPosRankSum=2.202;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:47,55:103:99:1656,0,1526
1 144873840 rs1627335 A G 2372.85 PASS AB=0.441;AC=1;AF=0.50;AN=2;BaseQRankSum=1.651;DB;DP=145;Dels=0.0;FS=8.573;HRun=2;HaplotypeScore=0.8321;MQ=59.52;MQ0=0;MQRankSum=0.834;QD=16.36;ReadPosRankSum=-1.055;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:64,81:145:99:2403,0,2072
1 144873887 rs1699787 C T 3576.32 PASS AB=0.476;AC=1;AF=0.50;AN=2;BaseQRankSum=0.34;DB;DP=225;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=6.3382;MQ=59.84;MQ0=0;MQRankSum=-0.269;QD=15.89;ReadPosRankSum=1.202;SNPEFF_AMINO_ACID_CHANGE=Q1646;SNPEFF_CODON_CHANGE=caG/caA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_144873877_144874029;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:107,118:225:99:3576,0,3348
1 144873962 rs11341221 CT C 2018.31 PASS AB=0.782;AC=1;AF=0.50;AN=2;BaseQRankSum=7.478;DB;DP=248;DS;FS=0.0;HRun=1;HaplotypeScore=931.4644;IndelType=D;MQ=60.17;MQ0=0;MQRankSum=0.977;QD=8.14;ReadPosRankSum=1.13;SNPEFF_EFFECT=FRAME_SHIFT;SNPEFF_EXON_ID=exon_1_144873877_144874029;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:179,69:248:99:2057,0,7490
1 144874038 rs1419160 T C 3611.91 PASS AB=0.44;AC=1;AF=0.50;AN=2;BaseQRankSum=3.248;DB;DP=210;DS;Dels=0.0;FS=7.338;HRun=2;HaplotypeScore=4.3749;MQ=59.94;MQ0=0;MQRankSum=0.833;QD=17.2;ReadPosRankSum=0.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:92,117:210:99:3612,0,2933
1 144874070 rs1610565 C T 2328.43 PASS AB=0.457;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.717;DB;DP=141;Dels=0.0;FS=3.379;HRun=0;HaplotypeScore=1.9787;MQ=59.7;MQ0=0;MQRankSum=0.378;QD=16.51;ReadPosRankSum=-1.329;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:64,76:141:99:2358,0,2144
1 144874088 rs1419158 G C 1841.73 PASS AB=0.463;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.1;DB;DP=123;Dels=0.0;FS=1.079;HRun=2;HaplotypeScore=0.0;MQ=59.66;MQ0=0;MQRankSum=0.424;QD=14.97;ReadPosRankSum=-0.064;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:57,66:123:99:1872,0,1860
1 144874489 rs1699788 G A 39.84 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.026;QD=9.96;ReadPosRankSum=-1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:2,2:4:69.84:70,0,72
1 144874578 rs2296229 C T 78.40 PASS AB=0.853;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.415;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9947;MQ=60.0;MQ0=0;MQRankSum=0.467;QD=2.31;ReadPosRankSum=0.208;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:29,5:34:99:108,0,1010
1 144874641 rs1610771 G C 1008.63 PASS AB=0.554;AC=1;AF=0.50;AN=2;BaseQRankSum=0.469;DB;DP=83;Dels=0.0;FS=6.704;HRun=2;HaplotypeScore=2.4521;MQ=59.72;MQ0=0;MQRankSum=0.015;QD=12.15;ReadPosRankSum=-1.078;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:46,37:83:99:1039,0,1449
1 144874760 rs1610774 T C 1837.33 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=1.022;DB;DP=144;Dels=0.0;FS=2.13;HRun=0;HaplotypeScore=1.6988;MQ=60.0;MQ0=0;MQRankSum=0.216;QD=12.76;ReadPosRankSum=0.697;SNPEFF_AMINO_ACID_CHANGE=E1572;SNPEFF_CODON_CHANGE=gaA/gaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_144874681_144874904;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:81,63:144:99:1867,0,2543
1 144874815 rs1778155 T C 224.75 PASS AB=0.838;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.951;DB;DP=106;Dels=0.0;FS=2.297;HRun=0;HaplotypeScore=3.6514;MQ=59.72;MQ0=0;MQRankSum=-0.707;QD=2.12;ReadPosRankSum=0.149;SNPEFF_AMINO_ACID_CHANGE=H1554R;SNPEFF_CODON_CHANGE=cAt/cGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_144874681_144874904;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:88,17:106:99:255,0,2928
1 144874950 rs1747957 G A 475.05 PASS AB=0.55;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.155;DB;DP=41;Dels=0.0;FS=1.632;HRun=2;HaplotypeScore=2.1101;MQ=58.98;MQ0=0;MQRankSum=0.183;QD=11.59;ReadPosRankSum=-0.521;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:22,18:41:99:505,0,643
1 144875799 rs764983 G A 106.56 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.876;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.307;QD=11.84;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:5,4:9:99:137,0,180
1 144877176 rs2762875 C T 597.13 PASS AB=0.644;AC=1;AF=0.50;AN=2;BaseQRankSum=1.753;DB;DP=73;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=54.99;MQ0=0;MQRankSum=-6.618;QD=8.18;ReadPosRankSum=-0.967;SNPEFF_AMINO_ACID_CHANGE=R1460Q;SNPEFF_CODON_CHANGE=cGg/cAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_144877036_144877271;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:47,26:73:99:627,0,1394
1 144877366 rs1807092 A G 131.63 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=0.551;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.03;MQ0=0;MQRankSum=-1.286;QD=8.23;ReadPosRankSum=-1.286;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:10,6:16:99:162,0,334
1 144877390 rs1807093 G A 61.86 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.278;DB;DP=11;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=50.18;MQ0=0;MQRankSum=0.278;QD=5.62;ReadPosRankSum=-0.278;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:7,4:11:91.85:92,0,228
1 144878928 rs2762876 G T 984.53 PASS AB=0.587;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.362;DB;DP=75;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.7887;MQ=59.69;MQ0=0;MQRankSum=1.041;QD=13.13;ReadPosRankSum=1.402;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:44,31:75:99:1015,0,1492
1 144879090 rs1778120 T C 1033.29 PASS AB=0.775;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.851;DB;DP=204;DS;Dels=0.0;FS=16.801;HRun=0;HaplotypeScore=1.7297;MQ=59.77;MQ0=0;MQRankSum=0.395;QD=5.07;ReadPosRankSum=1.17;SNPEFF_AMINO_ACID_CHANGE=K1410E;SNPEFF_CODON_CHANGE=Aaa/Gaa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_144879035_144879563;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:158,46:204:99:1063,0,5187
1 144879264 rs2798901 A G 3000.80 PASS AB=0.331;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.727;DB;DP=160;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.7887;MQ=59.71;MQ0=0;MQRankSum=-1.022;QD=18.75;ReadPosRankSum=-1.352;SNPEFF_AMINO_ACID_CHANGE=W1352R;SNPEFF_CODON_CHANGE=Tgg/Cgg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_144879035_144879563;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:53,107:160:99:3031,0,1389
1 144879375 rs1747958 T C 3070.17 PASS AB=0.478;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.254;DB;DP=224;Dels=0.0;FS=1.068;HRun=0;HaplotypeScore=0.8321;MQ=58.55;MQ0=0;MQRankSum=-1.121;QD=13.71;ReadPosRankSum=0.405;SNPEFF_AMINO_ACID_CHANGE=K1315E;SNPEFF_CODON_CHANGE=Aaa/Gaa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_144879035_144879563;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:107,117:224:99:3100,0,3399
1 144880832 rs12568796 T C 507.92 PASS AB=0.783;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.125;DB;DP=120;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.8319;MQ=59.65;MQ0=0;MQRankSum=1.29;QD=4.23;ReadPosRankSum=-0.615;SNPEFF_AMINO_ACID_CHANGE=K1222E;SNPEFF_CODON_CHANGE=Aag/Gag;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_144880742_144880861;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:94,26:120:99:538,0,3166
1 144881389 rs1614163 T C 645.60 PASS AB=0.657;AC=1;AF=0.50;AN=2;BaseQRankSum=0.39;DB;DP=67;Dels=0.0;FS=10.652;HRun=0;HaplotypeScore=0.0;MQ=58.81;MQ0=0;MQRankSum=-0.759;QD=9.64;ReadPosRankSum=-0.852;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:44,23:67:99:676,0,1501
1 144882581 rs1699836 A G 1170.31 PASS AB=0.598;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.174;DB;DP=118;Dels=0.0;FS=2.669;HRun=0;HaplotypeScore=1.7046;MQ=59.65;MQ0=0;MQRankSum=2.012;QD=9.92;ReadPosRankSum=0.128;SNPEFF_AMINO_ACID_CHANGE=I1146;SNPEFF_CODON_CHANGE=atT/atC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_144882446_144882881;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000369354 GT:AD:DP:GQ:PL 0/1:70,47:118:99:1200,0,2295
1 144882823 rs1698647 C T 3007.59 PASS AB=0.54;AC=1;AF=0.50;AN=2;BaseQRankSum=0.85;DB;DP=239;DS;Dels=0.0;FS=3.63;HRun=2;HaplotypeScore=1.9856;MQ=59.9;MQ0=0;MQRankSum=-0.594;QD=12.58;ReadPosRankSum=-0.77;SNPEFF_AMINO_ACID_CHANGE=A1066T;SNPEFF_CODON_CHANGE=Gca/Aca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_144882446_144882881;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000369354 GT:AD:DP:GQ:PL 0/1:129,110:239:99:3038,0,3991
1 144882912 rs1698646 G T 378.69 PASS AB=0.827;AC=1;AF=0.50;AN=2;BaseQRankSum=1.072;DB;DP=110;DS;Dels=0.0;FS=3.533;HRun=1;HaplotypeScore=1.97;MQ=59.79;MQ0=0;MQRankSum=-0.298;QD=3.44;ReadPosRankSum=0.273;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:91,19:110:99:409,0,3087
1 144886063 rs1625285 T C 470.03 PASS AB=0.553;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.205;DB;DP=47;Dels=0.0;FS=2.912;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.964;QD=10.0;ReadPosRankSum=0.587;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313431 GT:AD:DP:GQ:PL 0/1:26,21:47:99:500,0,891
1 144886092 rs1343472 C T 814.03 PASS AB=0.582;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.447;DB;DP=67;Dels=0.0;FS=9.685;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.604;QD=12.15;ReadPosRankSum=1.71;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313431 GT:AD:DP:GQ:PL 0/1:39,28:67:99:844,0,1329
1 144886197 rs1698624 A T 2611.83 PASS AB=0.52;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.319;DB;DP=198;Dels=0.0;FS=7.71;HRun=0;HaplotypeScore=3.4939;MQ=59.77;MQ0=0;MQRankSum=1.78;QD=13.19;ReadPosRankSum=0.85;SNPEFF_AMINO_ACID_CHANGE=F1013I;SNPEFF_CODON_CHANGE=Ttc/Atc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_144886097_144886329;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000369354 GT:AD:DP:GQ:PL 0/1:103,95:198:99:2642,0,3237
1 144886409 rs1620507 A C 1159.11 PASS AB=0.409;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.209;DB;DP=66;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9867;MQ=59.37;MQ0=0;MQRankSum=1.748;QD=17.56;ReadPosRankSum=-0.678;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313431 GT:AD:DP:GQ:PL 0/1:27,39:66:99:1189,0,907
1 144892089 rs1614098 G T 269.93 PASS AB=0.231;AC=1;AF=0.50;AN=2;BaseQRankSum=1.099;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.7887;MQ=50.73;MQ0=0;MQRankSum=0.085;QD=20.76;ReadPosRankSum=-0.761;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000533963 GT:AD:DP:GQ:PL 0/1:3,10:13:45.34:300,0,45
1 144892149 rs1698709 G A 423.20 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=2.608;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=52.26;MQ0=0;MQRankSum=-1.207;QD=20.15;ReadPosRankSum=1.051;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000533963 GT:AD:DP:GQ:PL 0/1:6,15:21:99:453,0,149
1 144892368 rs1698708 A T 520.94 PASS AB=0.697;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.393;DB;DP=76;Dels=0.0;FS=2.746;HRun=0;HaplotypeScore=1.5782;MQ=59.7;MQ0=0;MQRankSum=-0.305;QD=6.85;ReadPosRankSum=0.384;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:53,23:76:99:551,0,1805
1 144892710 rs1699826 C A 820.09 PASS AB=0.49;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.047;DB;DP=51;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.25;MQ0=0;MQRankSum=-0.857;QD=16.08;ReadPosRankSum=-0.104;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:25,26:51:99:850,0,861
1 144892788 rs607984 C A 88.56 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.92;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=47.72;MQ0=0;MQRankSum=-1.92;QD=11.07;ReadPosRankSum=-1.221;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:3,5:8:99:119,0,107
1 144909956 rs638260 G A 406.46 PASS AB=0.729;AC=1;AF=0.50;AN=2;BaseQRankSum=2.311;DB;DP=70;Dels=0.0;FS=6.17;HRun=2;HaplotypeScore=2.8402;MQ=60.0;MQ0=0;MQRankSum=-0.951;QD=5.81;ReadPosRankSum=1.981;SNPEFF_AMINO_ACID_CHANGE=D531;SNPEFF_CODON_CHANGE=gaC/gaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_144909869_144909960;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000479408 GT:AD:DP:GQ:PL 0/1:51,19:70:99:436,0,1529
1 144910082 rs638780 A G 315.33 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.04;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:348,27,0
1 144911702 rs1747928 C A 142.29 PASS AB=0.143;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.742;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.742;QD=20.33;ReadPosRankSum=0.742;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:1,6:7:21.59:172,0,22
1 144911704 rs1778105 G C 135.27 PASS AB=0.143;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.742;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.742;QD=19.32;ReadPosRankSum=0.742;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:1,6:7:20.71:165,0,21
1 144912153 rs1628172 A G 1811.11 PASS AB=0.238;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.555;DB;DP=84;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.5778;MQ=60.0;MQ0=0;MQRankSum=-1.329;QD=21.56;ReadPosRankSum=-0.604;SNPEFF_AMINO_ACID_CHANGE=C495R;SNPEFF_CODON_CHANGE=Tgt/Cgt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_144912130_144912294;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000479408 GT:AD:DP:GQ:PL 0/1:20,64:84:99:1841,0,500
1 144912233 rs1629011 C T 929.42 PASS AB=0.507;AC=1;AF=0.50;AN=2;BaseQRankSum=4.835;DB;DP=67;Dels=0.0;FS=2.355;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.558;QD=13.87;ReadPosRankSum=-0.321;SNPEFF_AMINO_ACID_CHANGE=R468H;SNPEFF_CODON_CHANGE=cGc/cAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_144912130_144912294;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000479408 GT:AD:DP:GQ:PL 0/1:34,33:67:99:959,0,906
1 144915412 rs1698684 T C 672.11 PASS AB=0.754;AC=1;AF=0.50;AN=2;BaseQRankSum=1.032;DB;DP=118;Dels=0.0;FS=2.678;HRun=0;HaplotypeScore=2.4951;MQ=58.85;MQ0=0;MQRankSum=-0.584;QD=5.7;ReadPosRankSum=-0.969;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000496263 GT:AD:DP:GQ:PL 0/1:89,29:118:99:702,0,3120
1 144915561 rs1778111 G A 2855.16 HaplotypeScoreFilter13 AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.412;DB;DP=151;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=34.8605;MQ=53.65;MQ0=1;MQRankSum=-0.762;QD=18.78;ReadPosRankSum=0.86;SNPEFF_AMINO_ACID_CHANGE=R409*;SNPEFF_CODON_CHANGE=Cga/Tga;SNPEFF_EFFECT=STOP_GAINED;SNPEFF_EXON_ID=exon_1_144915445_144915639;SNPEFF_FUNCTIONAL_CLASS=NONSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000479408 GT:AD:DP:GQ:PL 0/1:50,100:151:99:2885,0,1346
1 144915568 rs143827095 A T 720.30 HaplotypeScoreFilter13 AB=0.766;AC=1;AF=0.50;AN=2;BaseQRankSum=0.046;DB;DP=154;Dels=0.0;FS=5.048;HRun=0;HaplotypeScore=35.892;MQ=52.89;MQ0=1;MQRankSum=-1.197;QD=4.68;ReadPosRankSum=-1.021;SNPEFF_AMINO_ACID_CHANGE=R406;SNPEFF_CODON_CHANGE=cgT/cgA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_144915445_144915639;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000479408 GT:AD:DP:GQ:PL 0/1:118,36:154:99:750,0,3692
1 144915624 rs1778112 G A 1725.99 PASS AB=0.43;AC=1;AF=0.50;AN=2;BaseQRankSum=1.144;DB;DP=114;Dels=0.0;FS=4.902;HRun=1;HaplotypeScore=1.9664;MQ=50.09;MQ0=1;MQRankSum=-5.71;QD=15.14;ReadPosRankSum=-1.573;SNPEFF_AMINO_ACID_CHANGE=L388;SNPEFF_CODON_CHANGE=Ctg/Ttg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_144915445_144915639;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000479408 GT:AD:DP:GQ:PL 0/1:49,65:114:99:1756,0,1541
1 144915794 rs1778113 C T 107.71 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.368;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9979;MQ=55.16;MQ0=0;MQRankSum=-1.638;QD=13.46;ReadPosRankSum=-0.421;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000496263 GT:AD:DP:GQ:PL 0/1:4,4:8:99:138,0,130
1 144916370 rs68164265 GT G 483.55 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=4.278;DB;DP=32;FS=0.0;HRun=2;HaplotypeScore=78.4866;IndelType=D;MQ=59.62;MQ0=0;MQRankSum=1.187;QD=15.11;ReadPosRankSum=1.074;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000496263 GT:AD:DP:GQ:PL 0/1:16,16:32:99:523,0,624
1 144916486 rs1699798 T G 3950.22 PASS AB=0.42;AC=1;AF=0.50;AN=2;BaseQRankSum=4.609;DB;DP=212;Dels=0.0;FS=1.165;HRun=1;HaplotypeScore=1.1567;MQ=59.56;MQ0=0;MQRankSum=-1.708;QD=18.63;ReadPosRankSum=0.405;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000496263 GT:AD:DP:GQ:PL 0/1:89,123:212:99:3950,0,2745
1 144916493 rs1699799 A G 3854.48 PASS AB=0.406;AC=1;AF=0.50;AN=2;BaseQRankSum=-11.025;DB;DP=239;Dels=0.0;FS=1.035;HRun=0;HaplotypeScore=0.5784;MQ=59.71;MQ0=0;MQRankSum=1.406;QD=16.13;ReadPosRankSum=-0.564;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000496263 GT:AD:DP:GQ:PL 0/1:97,142:239:99:3854,0,3238
1 144916676 rs1698683 C T 2053.48 PASS AB=0.679;AC=1;AF=0.50;AN=2;BaseQRankSum=0.318;DB;DP=249;DS;Dels=0.0;FS=0.546;HRun=0;HaplotypeScore=2.9938;MQ=59.72;MQ0=0;MQRankSum=0.442;QD=8.25;ReadPosRankSum=0.161;SNPEFF_AMINO_ACID_CHANGE=W347*;SNPEFF_CODON_CHANGE=tGg/tAg;SNPEFF_EFFECT=STOP_GAINED;SNPEFF_EXON_ID=exon_1_144916570_144916749;SNPEFF_FUNCTIONAL_CLASS=NONSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000479408 GT:AD:DP:GQ:PL 0/1:169,80:249:99:2083,0,5466
1 144916748 rs1747930 C G 4240.50 PASS AB=0.414;AC=1;AF=0.50;AN=2;BaseQRankSum=4.394;DB;DP=222;DS;Dels=0.0;FS=1.222;HRun=0;HaplotypeScore=2.309;MQ=59.79;MQ0=0;MQRankSum=1.393;QD=19.1;ReadPosRankSum=0.285;SNPEFF_AMINO_ACID_CHANGE=S323T;SNPEFF_CODON_CHANGE=aGt/aCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_144916570_144916749;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000479408 GT:AD:DP:GQ:PL 0/1:92,130:222:99:4240,0,2816
1 144916995 rs601274 A T 78.65 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=19.66;ReadPosRankSum=0.727;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000532801 GT:AD:DP:GQ:PL 0/1:1,3:4:26.54:109,0,27
1 144917199 rs1699800 C T 63.27 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=15.82;ReadPosRankSum=0.727;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000532801 GT:AD:DP:GQ:PL 0/1:1,3:4:30.97:93,0,31
1 144917546 rs1698682 A G 4067.99 PASS AB=0.458;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.386;DB;DP=249;DS;Dels=0.0;FS=8.678;HRun=1;HaplotypeScore=7.5833;MQ=59.58;MQ0=0;MQRankSum=0.612;QD=16.34;ReadPosRankSum=1.383;SNPEFF_AMINO_ACID_CHANGE=L307;SNPEFF_CODON_CHANGE=Tta/Cta;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_144917499_144917636;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000479408 GT:AD:DP:GQ:PL 0/1:114,135:249:99:4068,0,3742
1 144917809 . T C 2414.71 PASS AB=0.616;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.403;DP=250;DS;Dels=0.0;FS=0.618;HRun=0;HaplotypeScore=1.9815;MQ=48.47;MQ0=1;MQRankSum=0.86;QD=9.66;ReadPosRankSum=1.59;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000532801 GT:AD:DP:GQ:PL 0/1:154,96:250:99:2445,0,4783
1 144917827 rs11295415 CA C 2581.22 PASS AB=0.731;AC=1;AF=0.50;AN=2;BaseQRankSum=11.889;DB;DP=235;DS;FS=3.942;HRun=2;HaplotypeScore=1340.8639;IndelType=D;MQ=47.4;MQ0=1;MQRankSum=1.064;QD=10.32;ReadPosRankSum=1.419;SNPEFF_EFFECT=FRAME_SHIFT;SNPEFF_EXON_ID=exon_1_144917819_144917932;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:158,92:235:99:2620,0,5721
1 144917841 rs1698681 T C 4222.55 PASS AB=0.396;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.914;DB;DP=250;DS;Dels=0.0;FS=2.636;HRun=0;HaplotypeScore=1.865;MQ=47.05;MQ0=1;MQRankSum=0.34;QD=16.89;ReadPosRankSum=-0.939;SNPEFF_AMINO_ACID_CHANGE=H269R;SNPEFF_CODON_CHANGE=cAt/cGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_144917819_144917932;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000479408 GT:AD:DP:GQ:PL 0/1:99,151:250:99:4223,0,2725
1 144918034 rs2655804 A G 643.06 PASS AB=0.577;AC=1;AF=0.50;AN=2;BaseQRankSum=2.936;DB;DP=52;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.87;MQ0=0;MQRankSum=-0.176;QD=12.37;ReadPosRankSum=-0.695;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000532801 GT:AD:DP:GQ:PL 0/1:30,22:52:99:673,0,969
1 144918957 rs1061308 T A 3658.34 PASS AB=0.468;AC=1;AF=0.50;AN=2;BaseQRankSum=-7.739;DB;DP=237;DS;Dels=0.0;FS=4.868;HRun=0;HaplotypeScore=5.4446;MQ=59.13;MQ0=0;MQRankSum=0.728;QD=15.44;ReadPosRankSum=0.065;SNPEFF_AMINO_ACID_CHANGE=E197V;SNPEFF_CODON_CHANGE=gAa/gTa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_144918833_144918991;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000479408 GT:AD:DP:GQ:PL 0/1:111,126:237:99:3658,0,3480
1 144919008 rs147459235 AC A 2577.46 PASS AB=0.721;AC=1;AF=0.50;AN=2;BaseQRankSum=8.542;DB;DP=217;DS;FS=7.361;HRun=2;HaplotypeScore=855.3516;IndelType=D;MQ=59.86;MQ0=0;MQRankSum=2.414;QD=11.88;ReadPosRankSum=-0.445;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:133,84:217:99:2616,0,4993
1 144919094 rs1698680 C T 1064.85 PASS AB=0.453;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.106;DB;DP=64;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.24;MQ0=0;MQRankSum=0.661;QD=16.64;ReadPosRankSum=-0.89;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:29,35:64:99:1095,0,967
1 144922109 rs1343469 A G 838.12 PASS AB=0.547;AC=1;AF=0.50;AN=2;BaseQRankSum=3.52;DB;DP=64;Dels=0.0;FS=8.978;HRun=0;HaplotypeScore=2.5494;MQ=59.28;MQ0=0;MQRankSum=-0.566;QD=13.1;ReadPosRankSum=2.252;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:35,29:64:99:868,0,1211
1 144922171 rs1343470 C T 772.92 PASS AB=0.432;AC=1;AF=0.50;AN=2;BaseQRankSum=1.99;DB;DP=44;Dels=0.0;FS=2.624;HRun=0;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=1.801;QD=17.57;ReadPosRankSum=0.095;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:19,25:44:99:803,0,542
1 144922523 rs2455994 C T 3115.47 PASS AB=0.596;AC=1;AF=0.50;AN=2;BaseQRankSum=2.802;DB;DP=250;DS;Dels=0.0;FS=1.702;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.906;QD=12.46;ReadPosRankSum=0.919;SNPEFF_AMINO_ACID_CHANGE=R295H;SNPEFF_CODON_CHANGE=cGt/cAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_144922519_144922638;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000369349 GT:AD:DP:GQ:PL 0/1:149,101:250:99:3145,0,4564
1 144922583 rs1359300 G A 4909.16 PASS AB=0.384;AC=1;AF=0.50;AN=2;BaseQRankSum=2.909;DB;DP=250;DS;Dels=0.0;FS=2.98;HRun=1;HaplotypeScore=0.9734;MQ=59.82;MQ0=0;MQRankSum=1.277;QD=19.64;ReadPosRankSum=-0.027;SNPEFF_AMINO_ACID_CHANGE=S275L;SNPEFF_CODON_CHANGE=tCg/tTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_144922519_144922638;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000369349 GT:AD:DP:GQ:PL 0/1:96,154:250:99:4909,0,2802
1 144922861 rs1698650 C T 126.67 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.031;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.717;QD=10.56;ReadPosRankSum=-0.466;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:6,6:12:99:157,0,136
1 144923394 rs1778125 G T 82.93 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.16;MQ0=0;MQRankSum=0.727;QD=20.73;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:1,3:4:14.64:113,0,15
1 144923503 rs1778126 C T 321.25 PASS AB=0.231;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.099;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=54.44;MQ0=0;MQRankSum=0.761;QD=24.71;ReadPosRankSum=-0.93;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:3,10:13:77.77:351,0,78
1 144923535 rs1778127 A G 588.66 PASS AB=0.387;AC=1;AF=0.50;AN=2;BaseQRankSum=2.737;DB;DP=31;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.101;MQ=56.17;MQ0=0;MQRankSum=-1.237;QD=18.99;ReadPosRankSum=2.007;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:12,19:31:99:619,0,389
1 144923823 rs11268079 TAGGAAGAAACGGCA T 3093.42 PASS AB=0.711;AC=1;AF=0.50;AN=2;BaseQRankSum=6.592;DB;DP=90;FS=4.77;HRun=0;HaplotypeScore=1079.8115;IndelType=D;MQ=48.63;MQ0=0;MQRankSum=-4.04;QD=33.99;ReadPosRankSum=-1.914;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:54,37:90:99:3132,0,4689
1 144930369 rs1778086 T C 115.41 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=2.637;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=48.43;MQ0=0;MQRankSum=-2.181;QD=10.49;ReadPosRankSum=-0.825;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:5,6:11:99:145,0,161
1 144930405 rs72306530 TTATC T 596 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=4.433;DB;DP=28;FS=0.0;HRun=0;HaplotypeScore=197.5852;IndelType=D;MQ=50.16;MQ0=0;MQRankSum=-4.387;QD=21.29;ReadPosRankSum=0.766;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:16,12:28:99:635,0,1273
1 144930441 rs2261219 G T 376.23 PASS AB=0.513;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.775;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9979;MQ=52.32;MQ0=0;MQRankSum=-2.85;QD=9.65;ReadPosRankSum=-1.213;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:20,19:39:99:406,0,710
1 144930571 rs2762866 C A 2141.88 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.302;DB;DP=136;Dels=0.0;FS=5.326;HRun=0;HaplotypeScore=0.9867;MQ=58.26;MQ0=0;MQRankSum=-0.183;QD=15.63;ReadPosRankSum=1.246;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:64,72:136:99:2172,0,1880
1 144930596 rs2762867 C A 2512.20 PASS AB=0.421;AC=1;AF=0.50;AN=2;BaseQRankSum=3.701;DB;DP=145;Dels=0.0;FS=6.348;HRun=0;HaplotypeScore=1.6988;MQ=58.36;MQ0=0;MQRankSum=-0.596;QD=17.33;ReadPosRankSum=-1.018;SNPEFF_AMINO_ACID_CHANGE=P371;SNPEFF_CODON_CHANGE=ccG/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_144930584_144932365;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000313431 GT:AD:DP:GQ:PL 0/1:61,84:145:99:2542,0,1597
1 144930940 rs2147326 T C 2154.91 PASS AB=0.37;AC=1;AF=0.50;AN=2;BaseQRankSum=3.4;DB;DP=119;Dels=0.0;FS=2.49;HRun=1;HaplotypeScore=0.7887;MQ=59.22;MQ0=0;MQRankSum=0.341;QD=18.11;ReadPosRankSum=0.979;SNPEFF_AMINO_ACID_CHANGE=K257E;SNPEFF_CODON_CHANGE=Aaa/Gaa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_144930584_144932365;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000313431 GT:AD:DP:GQ:PL 0/1:44,75:119:99:2185,0,1266
1 144931087 rs41315684 T C 457.20 PASS AB=0.792;AC=1;AF=0.50;AN=2;BaseQRankSum=1.218;DB;DP=101;Dels=0.0;FS=5.073;HRun=0;HaplotypeScore=1.9557;MQ=59.77;MQ0=0;MQRankSum=-0.146;QD=4.53;ReadPosRankSum=0.188;SNPEFF_AMINO_ACID_CHANGE=T208A;SNPEFF_CODON_CHANGE=Act/Gct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_144930584_144932365;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000313431 GT:AD:DP:GQ:PL 0/1:80,21:101:99:487,0,2661
1 144931330 rs2762745 C T 3563.99 PASS AB=0.448;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.448;DB;DP=212;Dels=0.0;FS=1.065;HRun=0;HaplotypeScore=4.3201;MQ=59.78;MQ0=0;MQRankSum=-0.922;QD=16.81;ReadPosRankSum=1.545;SNPEFF_AMINO_ACID_CHANGE=A127T;SNPEFF_CODON_CHANGE=Gca/Aca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_144930584_144932365;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000313431 GT:AD:DP:GQ:PL 0/1:95,117:212:99:3564,0,2990
1 144931392 rs2798893 G A 4291.64 PASS AB=0.397;AC=1;AF=0.50;AN=2;BaseQRankSum=2.959;DB;DP=237;Dels=0.0;FS=1.636;HRun=0;HaplotypeScore=4.5878;MQ=59.59;MQ0=0;MQRankSum=-0.782;QD=18.11;ReadPosRankSum=1.186;SNPEFF_AMINO_ACID_CHANGE=A106V;SNPEFF_CODON_CHANGE=gCg/gTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_144930584_144932365;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000313431 GT:AD:DP:GQ:PL 0/1:94,143:237:99:4292,0,2375
1 144931461 rs41315685 A T 1151.33 PASS AB=0.755;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.364;DB;DP=204;DS;Dels=0.0;FS=6.465;HRun=1;HaplotypeScore=0.6651;MQ=59.64;MQ0=0;MQRankSum=0.313;QD=5.64;ReadPosRankSum=-0.192;SNPEFF_AMINO_ACID_CHANGE=L83Q;SNPEFF_CODON_CHANGE=cTa/cAa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_144930584_144932365;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000313431 GT:AD:DP:GQ:PL 0/1:154,50:204:99:1181,0,4946
1 144931727 rs2985363 G A 584 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.25;DB;DP=53;Dels=0.0;FS=2.587;HRun=0;HaplotypeScore=1.8583;MQ=59.04;MQ0=0;MQRankSum=-0.45;QD=11.02;ReadPosRankSum=-0.39;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:26,26:53:99:614,0,793
1 144946403 rs2798888 T C 43.02 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=41.96;MQ0=0;QD=14.34;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000497529 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:74,6,0
1 144946510 rs2488977 C T 439.47 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.05;MQ0=0;QD=36.62;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000497529 GT:AD:DP:GQ:PL 1/1:0,12:12:36.12:472,36,0
1 144946768 rs2762733 G A 1668.94 PASS AB=0.458;AC=1;AF=0.50;AN=2;BaseQRankSum=1.781;DB;DP=107;Dels=0.0;FS=1.65;HRun=1;HaplotypeScore=0.0;MQ=58.92;MQ0=0;MQRankSum=-0.285;QD=15.6;ReadPosRankSum=0.253;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369347 GT:AD:DP:GQ:PL 0/1:49,58:107:99:1699,0,1503
1 144946876 rs2798887 C T 306.37 PASS AB=0.391;AC=1;AF=0.50;AN=2;BaseQRankSum=1.228;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9983;MQ=51.38;MQ0=0;MQRankSum=-2.11;QD=13.32;ReadPosRankSum=0.22;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369347 GT:AD:DP:GQ:PL 0/1:9,14:23:99:336,0,265
1 144946883 rs2762732 G C 284.13 PASS AB=0.381;AC=1;AF=0.50;AN=2;BaseQRankSum=0.253;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9983;MQ=50.49;MQ0=0;MQRankSum=-1.992;QD=13.53;ReadPosRankSum=0.688;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369347 GT:AD:DP:GQ:PL 0/1:8,13:21:99:314,0,267
1 144946893 rs2798886 C G 262.09 PASS AB=0.294;AC=1;AF=0.50;AN=2;BaseQRankSum=0.369;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=47.98;MQ0=0;MQRankSum=-1.634;QD=15.42;ReadPosRankSum=0.158;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369347 GT:AD:DP:GQ:PL 0/1:5,12:17:99:292,0,159
1 144946908 rs4491020 C T 208.12 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=2.037;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.66;MQ0=0;MQRankSum=-0.678;QD=18.92;ReadPosRankSum=2.228;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369347 GT:AD:DP:GQ:PL 0/1:4,7:11:99:238,0,122
1 144946958 rs4439318 G A 43.42 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=51.77;MQ0=0;QD=14.47;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369347 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:75,6,0
1 144946979 rs2798885 A C 52.28 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.14;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369347 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
1 144951880 rs141695068 A T 336.91 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.787;DB;DP=36;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=44.69;MQ0=2;MQRankSum=-3.843;QD=9.36;ReadPosRankSum=1.84;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464103 GT:AD:DP:GQ:PL 0/1:20,16:36:99:367,0,660
1 144951959 rs142985095 T C 58.24 QDFilter2 AB=0.887;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.018;DB;DP=115;Dels=0.0;FS=6.374;HRun=1;HaplotypeScore=0.8941;MQ=44.16;MQ0=3;MQRankSum=-1.861;QD=0.51;ReadPosRankSum=0.694;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464103 GT:AD:DP:GQ:PL 0/1:102,13:115:88.23:88,0,3221
1 144951973 rs77471170 T C 2760.76 PASS AB=0.348;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.26;DB;DP=141;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=4.1374;MQ=45.04;MQ0=3;MQRankSum=-0.168;QD=19.58;ReadPosRankSum=0.885;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464103 GT:AD:DP:GQ:PL 0/1:49,92:141:99:2791,0,1244
1 144952078 rs71220421 C A 2032.72 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.68;DB;DP=231;DS;Dels=0.0;FS=19.705;HRun=0;HaplotypeScore=3.5478;MQ=43.11;MQ0=13;MQRankSum=-0.68;QD=8.8;ReadPosRankSum=1.848;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464103 GT:AD:DP:GQ:PL 0/1:138,92:231:99:2063,0,3543
1 144952207 rs3121544 C T 881.10 MQFilter40 AB=0.741;AC=1;AF=0.50;AN=2;BaseQRankSum=1.993;DB;DP=243;DS;Dels=0.0;FS=9.302;HRun=1;HaplotypeScore=3.5409;MQ=33.29;MQ0=17;MQRankSum=-3.683;QD=3.63;ReadPosRankSum=-1.144;SNPEFF_AMINO_ACID_CHANGE=R171K;SNPEFF_CODON_CHANGE=aGg/aAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_144951760_144952376;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000369347 GT:AD:DP:GQ:PL 0/1:180,63:243:99:911,0,4129
1 144952220 rs139438772 C T 1452.94 MQFilter40 AB=0.605;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.453;DB;DP=233;DS;Dels=0.0;FS=12.832;HRun=0;HaplotypeScore=2.3665;MQ=31.36;MQ0=23;MQRankSum=-1.65;QD=6.24;ReadPosRankSum=0.244;SNPEFF_AMINO_ACID_CHANGE=A167T;SNPEFF_CODON_CHANGE=Gcc/Acc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_144951760_144952376;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000369347 GT:AD:DP:GQ:PL 0/1:141,92:233:99:1483,0,2991
1 144994654 rs147804991 G A 167.44 PASS AB=0.819;AC=1;AF=0.50;AN=2;BaseQRankSum=0.097;DB;DP=72;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=12.9975;MQ=60.0;MQ0=0;MQRankSum=-0.245;QD=2.33;ReadPosRankSum=1.256;SNPEFF_AMINO_ACID_CHANGE=I163;SNPEFF_CODON_CHANGE=atC/atT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_144994591_144994701;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000369348 GT:AD:DP:GQ:PL 0/1:59,13:72:99:197,0,1951
1 144994658 rs1664022 C A 729.19 HaplotypeScoreFilter13 AB=0.614;AC=1;AF=0.50;AN=2;BaseQRankSum=4.15;DB;DP=70;Dels=0.0;FS=0.972;HRun=0;HaplotypeScore=13.8641;MQ=60.0;MQ0=0;MQRankSum=-0.154;QD=10.42;ReadPosRankSum=-0.867;SNPEFF_AMINO_ACID_CHANGE=R162L;SNPEFF_CODON_CHANGE=cGc/cTc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_144994591_144994701;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000369348 GT:AD:DP:GQ:PL 0/1:43,27:70:99:759,0,1197
1 144994861 rs2442640 C T 645.07 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.857;DB;DP=21;Dels=0.0;FS=5.798;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.06;QD=30.72;ReadPosRankSum=0.779;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 1/1:2,19:21:26.72:678,27,0
1 145015877 rs77741369 G T 602.13 PASS AB=0.863;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.644;DB;DP=248;DS;Dels=0.0;FS=2.416;HRun=0;HaplotypeScore=2.3913;MQ=59.72;MQ0=0;MQRankSum=0.256;QD=2.43;ReadPosRankSum=1.003;SNPEFF_AMINO_ACID_CHANGE=L142I;SNPEFF_CODON_CHANGE=Ctt/Att;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_145015860_145016011;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000369348 GT:AD:DP:GQ:PL 0/1:214,34:248:99:632,0,7330
1 145016020 rs657162 T G 5181.84 PASS AC=2;AF=1.00;AN=2;DB;DP=136;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.7454;MQ=59.15;MQ0=0;QD=38.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 1/1:0,135:136:99:5182,382,0
1 145016032 rs112952246 C CA 697.75 PASS AB=0.815;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.741;DB;DP=137;DS;FS=2.666;HRun=9;HaplotypeScore=948.8685;IndelType=I;MQ=59.48;MQ0=0;MQRankSum=-0.268;QD=5.09;ReadPosRankSum=1.942;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:106,31:137:99:737,0,1451
1 145016034 . A AC 618.85 PASS AB=0.907;AC=1;AF=0.50;AN=2;BaseQRankSum=0.58;DP=136;DS;FS=1.729;HRun=0;HaplotypeScore=943.2001;IndelType=I;MQ=59.48;MQ0=0;MQRankSum=0.308;QD=4.55;ReadPosRankSum=-0.73;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:122,14:136:99:658,0,2559
1 145016035 rs80291027 A C 207.92 HaplotypeScoreFilter13;QDFilter2 AB=0.838;AC=1;AF=0.50;AN=2;BaseQRankSum=0.789;DB;DP=136;DS;Dels=0.0;FS=6.027;HRun=0;HaplotypeScore=46.3335;MQ=59.48;MQ0=0;MQRankSum=-0.488;QD=1.53;ReadPosRankSum=-1.746;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:114,22:136:99:238,0,2785
1 145020936 rs1778693 A G 98.39 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.4;DB;DP=14;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.33;MQ0=0;MQRankSum=0.0;QD=7.03;ReadPosRankSum=0.4;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:9,5:14:99:128,0,317
1 145021024 rs1778692 G C 410.97 PASS AB=0.632;AC=1;AF=0.50;AN=2;BaseQRankSum=1.135;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=5.999;MQ=59.51;MQ0=0;MQRankSum=-0.287;QD=10.81;ReadPosRankSum=0.106;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:24,14:38:99:441,0,837
1 145021034 rs674066 C A 47.97 QDFilter2 AB=0.838;AC=1;AF=0.50;AN=2;BaseQRankSum=0.597;DB;DP=37;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=5.999;MQ=59.5;MQ0=0;MQRankSum=0.309;QD=1.3;ReadPosRankSum=-0.968;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:31,6:37:77.97:78,0,1171
1 145021089 rs1613515 G A 254.41 PASS AB=0.846;AC=1;AF=0.50;AN=2;BaseQRankSum=2.277;DB;DP=104;Dels=0.0;FS=9.584;HRun=2;HaplotypeScore=2.744;MQ=59.56;MQ0=0;MQRankSum=0.851;QD=2.45;ReadPosRankSum=1.762;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:88,16:104:99:284,0,2893
1 145021265 rs673110 A G 56.62 QDFilter2 AB=0.857;AC=1;AF=0.50;AN=2;BaseQRankSum=1.671;DB;DP=43;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.3043;MQ=58.92;MQ0=0;MQRankSum=0.413;QD=1.32;ReadPosRankSum=0.521;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:36,6:43:86.62:87,0,1303
1 145039562 rs1663878 C T 1477.88 PASS AB=0.565;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.962;DB;DP=140;Dels=0.0;FS=4.259;HRun=0;HaplotypeScore=3.645;MQ=59.43;MQ0=0;MQRankSum=0.291;QD=10.56;ReadPosRankSum=0.024;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313382 GT:AD:DP:GQ:PL 0/1:78,60:140:99:1508,0,2288
1 145039633 rs2762750 C T 176.62 QDFilter2 AB=0.878;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.676;DB;DP=131;Dels=0.0;FS=2.562;HRun=1;HaplotypeScore=2.3919;MQ=59.54;MQ0=0;MQRankSum=0.918;QD=1.35;ReadPosRankSum=-1.492;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369348 GT:AD:DP:GQ:PL 0/1:115,16:131:99:207,0,3712
1 145074882 rs3845334 G T 72.23 PASS AB=0.8;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.37;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.236;QD=3.61;ReadPosRankSum=-1.559;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369348 GT:AD:DP:GQ:PL 0/1:16,4:20:99:102,0,603
1 145074939 rs1663854 T C 656.97 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.979;DB;DP=50;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.64;QD=13.14;ReadPosRankSum=-0.97;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369348 GT:AD:DP:GQ:PL 0/1:25,25:50:99:687,0,849
1 145075208 rs6424335 T A 109.44 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=18.24;ReadPosRankSum=1.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369345 GT:AD:DP:GQ:PL 0/1:2,4:6:62.59:139,0,63
1 145075519 rs2596337 G C 162.80 PASS AB=0.611;AC=1;AF=0.50;AN=2;BaseQRankSum=1.415;DB;DP=18;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=57.39;MQ0=0;MQRankSum=-1.122;QD=9.04;ReadPosRankSum=-1.22;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369345 GT:AD:DP:GQ:PL 0/1:11,7:18:99:193,0,269
1 145075683 rs2762779 C T 528.54 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.391;DB;DP=30;Dels=0.0;FS=1.708;HRun=0;HaplotypeScore=0.9665;MQ=59.07;MQ0=0;MQRankSum=0.212;QD=17.62;ReadPosRankSum=0.071;SNPEFF_AMINO_ACID_CHANGE=W60*;SNPEFF_CODON_CHANGE=tgG/tgA;SNPEFF_EFFECT=STOP_GAINED;SNPEFF_EXON_ID=exon_1_145075630_145076077;SNPEFF_FUNCTIONAL_CLASS=NONSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000369345 GT:AD:DP:GQ:PL 0/1:10,20:30:99:559,0,292
1 145075854 rs1663853 G C 254.65 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.283;DB;DP=28;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=59.17;MQ0=0;MQRankSum=1.414;QD=9.09;ReadPosRankSum=-0.591;SNPEFF_AMINO_ACID_CHANGE=G3;SNPEFF_CODON_CHANGE=ggC/ggG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_145075630_145076077;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000369345 GT:AD:DP:GQ:PL 0/1:16,12:28:99:285,0,447
1 145075923 rs6656135 C T 93.06 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=1.092;DB;DP=13;Dels=0.0;FS=3.424;HRun=2;HaplotypeScore=1.9877;MQ=58.2;MQ0=0;MQRankSum=-0.978;QD=7.16;ReadPosRankSum=-0.212;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PDE4DIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000527063 GT:AD:DP:GQ:PL 0/1:8,5:13:99:123,0,210
1 145103947 rs2794062 T C 259.62 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=1.158;DB;DP=36;Dels=0.0;FS=3.164;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.923;QD=7.21;ReadPosRankSum=0.285;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=SEC22B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000500203 GT:AD:DP:GQ:PL 0/1:24,12:36:99:290,0,726
1 145109456 rs7553975 C T 240.56 PASS AB=0.8;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.583;DB;DP=65;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.811;MQ=59.29;MQ0=0;MQRankSum=1.009;QD=3.7;ReadPosRankSum=-0.385;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=SEC22B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000453618 GT:AD:DP:GQ:PL 0/1:52,13:65:99:271,0,1943
1 145109468 rs2442652 A G 3157.98 PASS AC=2;AF=1.00;AN=2;DB;DP=88;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=59.21;MQ0=0;QD=35.89;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=SEC22B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000453618 GT:AD:DP:GQ:PL 1/1:0,88:88:99:3191,238,0
1 145109493 rs2442651 C T 938.63 PASS AB=0.717;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.982;DB;DP=127;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.6293;MQ=59.09;MQ0=0;MQRankSum=0.238;QD=7.39;ReadPosRankSum=-1.281;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=SEC22B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000453618 GT:AD:DP:GQ:PL 0/1:91,36:127:99:969,0,3260
1 145109549 rs2596331 G T 1913.10 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=4.141;DB;DP=240;Dels=0.0;FS=8.792;HRun=1;HaplotypeScore=1.5774;MQ=59.42;MQ0=0;MQRankSum=3.076;QD=7.94;ReadPosRankSum=-0.074;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=SEC22B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000453618 GT:AD:DP:GQ:PL 0/1:168,72:240:99:1943,0,5411
1 145109583 rs2794053 C A 3615.22 PASS AB=0.54;AC=1;AF=0.50;AN=2;BaseQRankSum=6.571;DB;DP=250;DS;Dels=0.0;FS=7.044;HRun=1;HaplotypeScore=1.7219;MQ=59.54;MQ0=0;MQRankSum=0.046;QD=14.46;ReadPosRankSum=0.228;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=SEC22B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000453618 GT:AD:DP:GQ:PL 0/1:135,115:250:99:3615,0,4374
1 145109661 rs2655551 G A 1264.56 PASS AB=0.772;AC=1;AF=0.50;AN=2;BaseQRankSum=4.261;DB;DP=250;DS;Dels=0.0;FS=0.57;HRun=1;HaplotypeScore=4.6744;MQ=59.82;MQ0=0;MQRankSum=0.879;QD=5.06;ReadPosRankSum=1.082;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=SEC22B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000453618 GT:AD:DP:GQ:PL 0/1:193,57:250:99:1295,0,6087
1 145109809 rs2596327 T A 488.59 PASS AB=0.793;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.875;DB;DP=111;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.79;MQ0=0;MQRankSum=0.945;QD=4.4;ReadPosRankSum=0.512;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=SEC22B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000453618 GT:AD:DP:GQ:PL 0/1:88,23:111:99:519,0,3312
1 145109897 rs2289797 C T 47.14 PASS AB=0.786;AC=1;AF=0.50;AN=2;BaseQRankSum=0.156;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7791;MQ=60.0;MQ0=0;MQRankSum=-0.778;QD=3.37;ReadPosRankSum=0.467;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=SEC22B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000453618 GT:AD:DP:GQ:PL 0/1:11,3:14:77.14:77,0,409
1 145112414 rs2590131 T C 369.26 PASS AB=0.721;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.452;DB;DP=68;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=12.8012;MQ=58.76;MQ0=0;MQRankSum=0.063;QD=5.43;ReadPosRankSum=-1.76;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=SEC22B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000453618 GT:AD:DP:GQ:PL 0/1:49,19:68:99:399,0,1657
1 145112420 rs2794041 C T 220.65 PASS AB=0.843;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.242;DB;DP=70;Dels=0.0;FS=1.334;HRun=1;HaplotypeScore=11.969;MQ=58.8;MQ0=0;MQRankSum=1.291;QD=3.15;ReadPosRankSum=0.436;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=SEC22B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000453618 GT:AD:DP:GQ:PL 0/1:59,11:70:99:251,0,1852
1 145112428 rs2794040 C T 302.88 PASS AB=0.797;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.994;DB;DP=79;Dels=0.0;FS=1.114;HRun=0;HaplotypeScore=11.8623;MQ=58.94;MQ0=0;MQRankSum=1.848;QD=3.83;ReadPosRankSum=-0.47;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=SEC22B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000453618 GT:AD:DP:GQ:PL 0/1:63,16:79:99:333,0,2093
1 145112485 rs2794039 C T 457.45 PASS AB=0.804;AC=1;AF=0.50;AN=2;BaseQRankSum=1.035;DB;DP=102;Dels=0.0;FS=4.914;HRun=1;HaplotypeScore=1.7885;MQ=59.41;MQ0=0;MQRankSum=0.933;QD=4.48;ReadPosRankSum=0.55;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=SEC22B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000453618 GT:AD:DP:GQ:PL 0/1:82,20:102:99:487,0,2417
1 145112758 rs2794038 C G 52.22 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.11;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=SEC22B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000453618 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:83,6,0
1 145115602 rs7540746 C T 48.63 PASS AB=0.833;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.285;DB;DP=24;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.25;MQ0=0;MQRankSum=-1.201;QD=2.03;ReadPosRankSum=-0.116;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=SEC22B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000453618 GT:AD:DP:GQ:PL 0/1:20,4:24:78.62:79,0,771
1 145115658 rs11278959 TATTTTTAA T 1043.64 PASS AB=0.818;AC=1;AF=0.50;AN=2;BaseQRankSum=5.662;DB;DP=63;FS=0.0;HRun=0;HaplotypeScore=443.1628;IndelType=D;MQ=54.25;MQ0=0;MQRankSum=-5.646;QD=16.57;ReadPosRankSum=0.62;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=SEC22B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000453618 GT:AD:DP:GQ:PL 0/1:49,14:63:99:1083,0,6464
1 145115810 rs2655557 A G 2671.46 HaplotypeScoreFilter13 AB=0.489;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.083;DB;DP=188;Dels=0.0;FS=2.528;HRun=0;HaplotypeScore=44.9617;MQ=58.51;MQ0=0;MQRankSum=-0.266;QD=14.21;ReadPosRankSum=0.899;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=SEC22B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000453618 GT:AD:DP:GQ:PL 0/1:92,96:188:99:2701,0,2861
1 145115820 rs2655558 T C 1191.68 HaplotypeScoreFilter13 AB=0.741;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.04;DB;DP=193;Dels=0.0;FS=4.887;HRun=0;HaplotypeScore=44.9617;MQ=58.8;MQ0=0;MQRankSum=1.246;QD=6.14;ReadPosRankSum=0.59;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=SEC22B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000453618 GT:AD:DP:GQ:PL 0/1:143,50:193:99:1222,0,4724
1 145116027 rs7550440 T C 226.19 PASS AB=0.727;AC=1;AF=0.50;AN=2;BaseQRankSum=1.152;DB;DP=33;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.071;QD=6.85;ReadPosRankSum=0.546;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=SEC22B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000453618 GT:AD:DP:GQ:PL 0/1:24,9:33:99:256,0,840
1 145209330 rs1738644 G C 91.80 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.811;DB;DP=16;Dels=0.0;FS=6.154;HRun=1;HaplotypeScore=0.0;MQ=48.74;MQ0=2;MQRankSum=1.369;QD=5.74;ReadPosRankSum=0.555;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_1_145209119_145209436;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2NL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344859 GT:AD:DP:GQ:PL 0/1:9,7:16:99:122,0,171
1 145248811 . A G 54.17 MQFilter40;QDFilter2 AB=0.758;AC=1;AF=0.50;AN=2;BaseQRankSum=1.415;DP=132;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9983;MQ=8.4;MQ0=115;MQRankSum=1.076;QD=0.41;ReadPosRankSum=0.17;SNPEFF_EFFECT=SPLICE_SITE_ACCEPTOR;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2NL;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000362074 GT:AD:DP:GQ:PL 0/1:100,32:132:84.16:84,0,206
1 145273302 . A G 337.12 MQFilter40;QDFilter2 AB=0.849;AC=1;AF=0.50;AN=2;BaseQRankSum=3.089;DP=239;Dels=0.0;FS=0.773;HRun=1;HaplotypeScore=4.0553;MQ=39.74;MQ0=30;MQRankSum=0.201;QD=1.41;ReadPosRankSum=-0.522;SNPEFF_AMINO_ACID_CHANGE=R52;SNPEFF_CODON_CHANGE=cgA/cgG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_145273185_145273444;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2NL;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000344859 GT:AD:DP:GQ:PL 0/1:203,36:239:99:367,0,4976
1 145273345 rs75987820 T C 549.28 PASS AB=0.856;AC=1;AF=0.50;AN=2;BaseQRankSum=2.193;DB;DP=236;DS;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=6.9231;MQ=48.53;MQ0=0;MQRankSum=0.497;QD=2.33;ReadPosRankSum=-0.469;SNPEFF_AMINO_ACID_CHANGE=S67P;SNPEFF_CODON_CHANGE=Tct/Cct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_145273185_145273444;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2NL;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000344859 GT:AD:DP:GQ:PL 0/1:202,34:236:99:579,0,6364
1 145273422 . C T 304.47 QDFilter2 AB=0.863;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.195;DP=226;DS;Dels=0.0;FS=3.668;HRun=0;HaplotypeScore=4.6802;MQ=47.62;MQ0=0;MQRankSum=0.095;QD=1.35;ReadPosRankSum=0.876;SNPEFF_AMINO_ACID_CHANGE=C92;SNPEFF_CODON_CHANGE=tgC/tgT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_145273185_145273444;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2NL;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000344859 GT:AD:DP:GQ:PL 0/1:195,31:226:99:334,0,5625
1 145273473 . T C 262.40 QDFilter2 AB=0.852;AC=1;AF=0.50;AN=2;BaseQRankSum=2.827;DP=184;DS;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9159;MQ=44.77;MQ0=0;MQRankSum=1.013;QD=1.43;ReadPosRankSum=0.854;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2NL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344859 GT:AD:DP:GQ:PL 0/1:156,27:184:99:292,0,4555
1 145273520 rs2793994 G A 471.60 PASS AB=0.774;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.423;DB;DP=107;Dels=0.0;FS=3.059;HRun=0;HaplotypeScore=4.1281;MQ=40.64;MQ0=1;MQRankSum=0.05;QD=4.41;ReadPosRankSum=-1.408;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2NL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344859 GT:AD:DP:GQ:PL 0/1:82,24:107:99:502,0,2245
1 145281203 rs147993620 G A 223.18 MQFilter40 AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.377;DB;DP=15;Dels=0.0;FS=4.393;HRun=0;HaplotypeScore=0.0;MQ=38.77;MQ0=1;MQRankSum=0.811;QD=14.88;ReadPosRankSum=0.555;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2NL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344859 GT:AD:DP:GQ:PL 0/1:8,7:15:99:253,0,119
1 145281361 rs147539840 TC T 684.03 PASS AB=0.854;AC=1;AF=0.50;AN=2;BaseQRankSum=8.35;DB;DP=207;FS=6.52;HRun=2;HaplotypeScore=649.3078;IndelType=D;MQ=40.19;MQ0=0;MQRankSum=0.961;QD=3.0;ReadPosRankSum=-0.603;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2NL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344859 GT:AD:DP:GQ:PL 0/1:189,39:207:99:723,0,6742
1 145281408 . C T 539.05 PASS AB=0.84;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.235;DP=250;DS;Dels=0.0;FS=3.129;HRun=0;HaplotypeScore=4.944;MQ=43.76;MQ0=0;MQRankSum=-0.191;QD=2.16;ReadPosRankSum=-0.073;SNPEFF_AMINO_ACID_CHANGE=P113L;SNPEFF_CODON_CHANGE=cCc/cTc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_145281369_145281704;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2NL;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000344859 GT:AD:DP:GQ:PL 0/1:210,40:250:99:569,0,6552
1 145281543 rs8002 C T 1443.01 HaplotypeScoreFilter13 AB=0.676;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.532;DB;DP=173;Dels=0.0;FS=1.369;HRun=0;HaplotypeScore=13.467;MQ=47.03;MQ0=0;MQRankSum=-1.17;QD=8.34;ReadPosRankSum=0.153;SNPEFF_AMINO_ACID_CHANGE=T158I;SNPEFF_CODON_CHANGE=aCc/aTc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_145281369_145281704;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2NL;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000344859 GT:AD:DP:GQ:PL 0/1:117,56:173:99:1473,0,3687
1 145281613 rs12120756 C A 126.89 QDFilter2 AB=0.877;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.994;DB;DP=138;Dels=0.0;FS=2.282;HRun=0;HaplotypeScore=1.5774;MQ=51.11;MQ0=0;MQRankSum=-0.487;QD=0.92;ReadPosRankSum=-2.079;SNPEFF_AMINO_ACID_CHANGE=S181R;SNPEFF_CODON_CHANGE=agC/agA;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_145281369_145281704;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2NL;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000344859 GT:AD:DP:GQ:PL 0/1:121,17:138:99:157,0,3893
1 145281633 rs28576333 C A 133.84 QDFilter2 AB=0.891;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.021;DB;DP=128;Dels=0.0;FS=1.126;HRun=0;HaplotypeScore=0.0;MQ=52.43;MQ0=0;MQRankSum=0.743;QD=1.05;ReadPosRankSum=-0.589;SNPEFF_AMINO_ACID_CHANGE=P188H;SNPEFF_CODON_CHANGE=cCc/cAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_145281369_145281704;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2NL;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000344859 GT:AD:DP:GQ:PL 0/1:114,14:128:99:164,0,3727
1 145281656 rs4649852 A T 123.27 QDFilter2 AB=0.879;AC=1;AF=0.50;AN=2;BaseQRankSum=2.959;DB;DP=116;Dels=0.0;FS=4.735;HRun=0;HaplotypeScore=0.8667;MQ=48.96;MQ0=3;MQRankSum=-0.638;QD=1.06;ReadPosRankSum=0.937;SNPEFF_AMINO_ACID_CHANGE=T196S;SNPEFF_CODON_CHANGE=Acc/Tcc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_145281369_145281704;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2NL;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000344859 GT:AD:DP:GQ:PL 0/1:102,14:116:99:153,0,3183
1 145281780 rs190671398 T A 79.43 QDFilter2 AB=0.814;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.951;DB;DP=43;Dels=0.0;FS=7.818;HRun=0;HaplotypeScore=0.8321;MQ=54.34;MQ0=0;MQRankSum=0.234;QD=1.85;ReadPosRankSum=0.577;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2NL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344859 GT:AD:DP:GQ:PL 0/1:35,8:43:99:109,0,1284
1 145281824 rs4089950 T G 67.01 QDFilter2 AB=0.846;AC=1;AF=0.50;AN=2;BaseQRankSum=0.658;DB;DP=39;Dels=0.0;FS=4.121;HRun=4;HaplotypeScore=2.9981;MQ=47.83;MQ0=3;MQRankSum=1.337;QD=1.72;ReadPosRankSum=0.615;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2NL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344859 GT:AD:DP:GQ:PL 0/1:33,6:39:97:97,0,959
1 145282093 . G A 290.35 PASS AB=0.696;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.825;DP=56;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7356;MQ=49.69;MQ0=1;MQRankSum=-5.791;QD=5.18;ReadPosRankSum=-1.121;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2NL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344859 GT:AD:DP:GQ:PL 0/1:39,17:56:99:320,0,1450
1 145290250 rs2746748 T C 366.12 PASS AB=0.52;AC=1;AF=0.50;AN=2;BaseQRankSum=0.082;DB;DP=25;Dels=0.0;FS=3.188;HRun=1;HaplotypeScore=0.9998;MQ=59.25;MQ0=0;MQRankSum=-0.354;QD=14.64;ReadPosRankSum=-1.713;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2NL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369340 GT:AD:DP:GQ:PL 0/1:13,12:25:99:396,0,462
1 145290317 rs77985488 C T 229.08 HaplotypeScoreFilter13 AB=0.814;AC=1;AF=0.50;AN=2;BaseQRankSum=2.572;DB;DP=97;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=16.9116;MQ=56.71;MQ0=0;MQRankSum=-3.561;QD=2.36;ReadPosRankSum=1.555;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2NL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369340 GT:AD:DP:GQ:PL 0/1:79,18:97:99:259,0,2923
1 145290320 rs2949607 C T 939.20 HaplotypeScoreFilter13 AB=0.626;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.998;DB;DP=99;Dels=0.0;FS=4.427;HRun=2;HaplotypeScore=16.9698;MQ=56.33;MQ0=0;MQRankSum=-2.207;QD=9.49;ReadPosRankSum=-0.232;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2NL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369340 GT:AD:DP:GQ:PL 0/1:62,37:99:99:969,0,2284
1 145290346 rs2746747 A G 1946.14 HaplotypeScoreFilter13 AB=0.514;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.045;DB;DP=142;Dels=0.0;FS=2.211;HRun=0;HaplotypeScore=21.9803;MQ=54.84;MQ0=1;MQRankSum=-4.209;QD=13.71;ReadPosRankSum=-0.425;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2NL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369340 GT:AD:DP:GQ:PL 0/1:73,69:142:99:1976,0,2534
1 145290351 rs2982634 A G 504.52 HaplotypeScoreFilter13 AB=0.828;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.534;DB;DP=157;Dels=0.0;FS=13.805;HRun=0;HaplotypeScore=26.9752;MQ=54.39;MQ0=1;MQRankSum=-0.759;QD=3.21;ReadPosRankSum=0.041;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2NL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369340 GT:AD:DP:GQ:PL 0/1:130,27:157:99:535,0,4459
1 145290377 rs2982633 T C 1608.49 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=2.527;DB;DP=213;Dels=0.0;FS=0.685;HRun=1;HaplotypeScore=1.6553;MQ=54.69;MQ0=2;MQRankSum=-7.162;QD=7.55;ReadPosRankSum=0.532;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2NL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369340 GT:AD:DP:GQ:PL 0/1:137,76:213:99:1638,0,4386
1 145290398 rs4143495 G A 323.11 HaplotypeScoreFilter13;QDFilter2 AB=0.892;AC=1;AF=0.50;AN=2;BaseQRankSum=2.624;DB;DP=250;DS;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=26.9943;MQ=54.95;MQ0=2;MQRankSum=2.844;QD=1.29;ReadPosRankSum=0.216;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2NL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369340 GT:AD:DP:GQ:PL 0/1:223,27:250:99:353,0,7025
1 145290401 rs77093221 T G 479.93 HaplotypeScoreFilter13;QDFilter2 AB=0.832;AC=1;AF=0.50;AN=2;BaseQRankSum=1.376;DB;DP=250;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=27.9858;MQ=55.03;MQ0=2;MQRankSum=-8.41;QD=1.92;ReadPosRankSum=0.673;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2NL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369340 GT:AD:DP:GQ:PL 0/1:208,42:250:99:510,0,6957
1 145290409 rs77693292 G A 419.91 QDFilter2 AB=0.828;AC=1;AF=0.50;AN=2;BaseQRankSum=0.293;DB;DP=250;DS;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9469;MQ=55.05;MQ0=2;MQRankSum=-7.649;QD=1.68;ReadPosRankSum=-0.351;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2NL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369340 GT:AD:DP:GQ:PL 0/1:207,43:250:99:450,0,6859
1 145290498 rs76101707 T G 763.16 PASS AB=0.793;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.924;DB;DP=213;DS;Dels=0.0;FS=6.76;HRun=0;HaplotypeScore=0.0;MQ=56.64;MQ0=0;MQRankSum=-4.995;QD=3.58;ReadPosRankSum=1.572;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2NL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369340 GT:AD:DP:GQ:PL 0/1:169,44:213:99:793,0,5623
1 145290535 rs76602996 C T 286.31 QDFilter2 AB=0.82;AC=1;AF=0.50;AN=2;BaseQRankSum=2.761;DB;DP=178;DS;Dels=0.0;FS=1.853;HRun=1;HaplotypeScore=0.7887;MQ=56.29;MQ0=2;MQRankSum=-4.761;QD=1.61;ReadPosRankSum=-1.075;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2NL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369340 GT:AD:DP:GQ:PL 0/1:146,32:178:99:316,0,5127
1 145290547 rs77744531 C A 62.93 HaplotypeScoreFilter13;QDFilter2 AB=0.832;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.755;DB;DP=167;DS;Dels=0.0;FS=6.958;HRun=1;HaplotypeScore=26.3441;MQ=56.51;MQ0=2;MQRankSum=-5.714;QD=0.38;ReadPosRankSum=-2.628;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2NL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369340 GT:AD:DP:GQ:PL 0/1:139,28:167:92.93:93,0,5030
1 145290553 rs4143494 C T 279.91 HaplotypeScoreFilter13;QDFilter2 AB=0.869;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.667;DB;DP=153;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=33.7386;MQ=56.37;MQ0=2;MQRankSum=0.904;QD=1.83;ReadPosRankSum=-1.243;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2NL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369340 GT:AD:DP:GQ:PL 0/1:133,20:153:99:310,0,4482
1 145290570 rs2725886 G A 93.15 QDFilter2 AB=0.902;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.705;DB;DP=122;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=10.5724;MQ=57.25;MQ0=2;MQRankSum=2.043;QD=0.76;ReadPosRankSum=0.932;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2NL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369340 GT:AD:DP:GQ:PL 0/1:110,12:122:99:123,0,3918
1 145293308 rs57959950 G C 147.92 QDFilter2 AB=0.892;AC=1;AF=0.50;AN=2;BaseQRankSum=1.583;DB;DP=250;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.9064;MQ=40.29;MQ0=7;MQRankSum=0.144;QD=0.59;ReadPosRankSum=-1.265;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2NL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344859 GT:AD:DP:GQ:PL 0/1:223,27:250:99:178,0,6384
1 145293469 rs6671324 G C 249.64 QDFilter2 AB=0.88;AC=1;AF=0.50;AN=2;BaseQRankSum=2.964;DB;DP=250;DS;Dels=0.0;FS=5.005;HRun=1;HaplotypeScore=6.5362;MQ=50.94;MQ0=1;MQRankSum=-2.449;QD=1.0;ReadPosRankSum=-0.738;SNPEFF_AMINO_ACID_CHANGE=E22Q;SNPEFF_CODON_CHANGE=Gag/Cag;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_145293371_145293580;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000342960 GT:AD:DP:GQ:PL 0/1:220,30:250:99:280,0,7140
1 145293498 rs4409714 G C 126.07 QDFilter2 AB=0.88;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.955;DB;DP=250;DS;Dels=0.0;FS=0.851;HRun=0;HaplotypeScore=2.7156;MQ=45.97;MQ0=15;MQRankSum=-3.44;QD=0.5;ReadPosRankSum=-1.282;SNPEFF_AMINO_ACID_CHANGE=K31N;SNPEFF_CODON_CHANGE=aaG/aaC;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_145293371_145293580;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000342960 GT:AD:DP:GQ:PL 0/1:220,30:250:99:156,0,6987
1 145293510 rs4356110 C G 115.87 HaplotypeScoreFilter13;QDFilter2 AB=0.892;AC=1;AF=0.50;AN=2;BaseQRankSum=0.871;DB;DP=250;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=25.6618;MQ=45.89;MQ0=10;MQRankSum=-2.451;QD=0.46;ReadPosRankSum=-0.83;SNPEFF_AMINO_ACID_CHANGE=F35L;SNPEFF_CODON_CHANGE=ttC/ttG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_145293371_145293580;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000342960 GT:AD:DP:GQ:PL 0/1:223,27:250:99:146,0,6793
1 145293515 rs12565078 A G 1707.47 HaplotypeScoreFilter13 AB=0.712;AC=1;AF=0.50;AN=2;BaseQRankSum=3.033;DB;DP=250;DS;Dels=0.0;FS=9.105;HRun=0;HaplotypeScore=19.9178;MQ=45.2;MQ0=10;MQRankSum=3.444;QD=6.83;ReadPosRankSum=0.952;SNPEFF_AMINO_ACID_CHANGE=N37S;SNPEFF_CODON_CHANGE=aAc/aGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_145293371_145293580;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000342960 GT:AD:DP:GQ:PL 0/1:178,72:250:99:1737,0,4539
1 145293566 rs7526045 G A 598.27 MQFilter40 AB=0.768;AC=1;AF=0.50;AN=2;BaseQRankSum=0.321;DB;DP=246;DS;Dels=0.0;FS=27.69;HRun=1;HaplotypeScore=0.8321;MQ=37.81;MQ0=16;MQRankSum=-2.125;QD=2.43;ReadPosRankSum=-0.997;SNPEFF_AMINO_ACID_CHANGE=R54Q;SNPEFF_CODON_CHANGE=cGa/cAa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_145293371_145293580;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000342960 GT:AD:DP:GQ:PL 0/1:189,57:246:99:628,0,4814
1 145293692 rs7526143 G A 252.38 MQFilter40 AB=0.725;AC=1;AF=0.50;AN=2;BaseQRankSum=1.203;DB;DP=120;DS;Dels=0.0;FS=4.068;HRun=1;HaplotypeScore=0.0;MQ=25.59;MQ0=16;MQRankSum=-0.083;QD=2.1;ReadPosRankSum=1.195;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2NL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344859 GT:AD:DP:GQ:PL 0/1:87,33:120:99:282,0,1367
1 145293826 rs7539630 A G 85.78 PASS AB=0.806;AC=1;AF=0.50;AN=2;BaseQRankSum=2.725;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9578;MQ=53.35;MQ0=0;MQRankSum=-3.075;QD=2.77;ReadPosRankSum=0.075;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2NL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344859 GT:AD:DP:GQ:PL 0/1:25,6:31:99:116,0,852
1 145296268 rs4996271 C T 1509.89 PASS AB=0.254;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.306;DB;DP=76;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=11.5118;MQ=45.21;MQ0=0;MQRankSum=-3.605;QD=19.87;ReadPosRankSum=-1.097;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2NL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344859 GT:AD:DP:GQ:PL 0/1:17,50:76:99:1540,0,519
1 145296372 rs4068113 A G 1327.20 MQFilter40 AB=0.372;AC=1;AF=0.50;AN=2;BaseQRankSum=2.286;DB;DP=250;DS;Dels=0.0;FS=32.293;HRun=1;HaplotypeScore=9.3371;MQ=36.57;MQ0=49;MQRankSum=-11.356;QD=5.31;ReadPosRankSum=-3.027;SNPEFF_AMINO_ACID_CHANGE=L23;SNPEFF_CODON_CHANGE=ctA/ctG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_145296357_145296571;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000448873 GT:AD:DP:GQ:PL 0/1:93,157:250:99:1357,0,2946
1 145296478 rs6663523 G T 1574.85 MQFilter40 AB=0.448;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.636;DB;DP=250;DS;Dels=0.0;FS=1.621;HRun=0;HaplotypeScore=3.3755;MQ=28.43;MQ0=79;MQRankSum=-0.456;QD=6.3;ReadPosRankSum=-2.819;SNPEFF_AMINO_ACID_CHANGE=D134Y;SNPEFF_CODON_CHANGE=Gat/Tat;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_145296357_145296571;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000342960 GT:AD:DP:GQ:PL 0/1:112,138:250:99:1605,0,1600
1 145296654 rs4068117 G A 667.66 MQFilter40 AB=0.695;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.033;DB;DP=118;Dels=0.0;FS=8.549;HRun=0;HaplotypeScore=0.0;MQ=22.82;MQ0=40;MQRankSum=-0.327;QD=5.66;ReadPosRankSum=-1.658;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOTCH2NL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344859 GT:AD:DP:GQ:PL 0/1:82,36:118:99:698,0,1009
1 145297458 rs4068107 G C 183.86 MQFilter40 AB=0.71;AC=1;AF=0.50;AN=2;BaseQRankSum=1.05;DB;DP=31;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8321;MQ=21.63;MQ0=10;MQRankSum=1.412;QD=5.93;ReadPosRankSum=0.471;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342960 GT:AD:DP:GQ:PL 0/1:22,9:31:99:214,0,143
1 145297817 rs4068088 G C 1245.20 PASS AB=0.306;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.858;DB;DP=62;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=44.02;MQ0=1;MQRankSum=0.491;QD=20.08;ReadPosRankSum=1.16;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342960 GT:AD:DP:GQ:PL 0/1:19,43:62:99:1275,0,372
1 145298070 rs12068486 G A 112.79 MQFilter40;QDFilter2 AB=0.769;AC=1;AF=0.50;AN=2;BaseQRankSum=3.578;DB;DP=135;Dels=0.0;FS=2.295;HRun=0;HaplotypeScore=0.0;MQ=25.45;MQ0=47;MQRankSum=-1.542;QD=0.84;ReadPosRankSum=0.637;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342960 GT:AD:DP:GQ:PL 0/1:103,31:135:99:143,0,1544
1 145298089 rs28605822 G T 846.58 MQFilter40 AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.237;DB;DP=174;Dels=0.0;FS=2.434;HRun=0;HaplotypeScore=9.6491;MQ=22.05;MQ0=85;MQRankSum=1.937;QD=4.87;ReadPosRankSum=1.536;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342960 GT:AD:DP:GQ:PL 0/1:107,67:174:99:877,0,971
1 145298186 rs28507779 C G 43.61 MQFilter40;QDFilter2 AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=0.835;DB;DP=248;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=8.17;MQ0=225;MQRankSum=-0.033;QD=0.18;ReadPosRankSum=0.1;SNPEFF_AMINO_ACID_CHANGE=P125A;SNPEFF_CODON_CHANGE=Cct/Gct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_145298155_145298366;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000448873 GT:AD:DP:GQ:PL 0/1:186,62:248:73.60:74,0,446
1 145298604 rs608262 T C 136.01 MQFilter40 AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=0.101;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.5572;MQ=31.69;MQ0=0;MQRankSum=0.66;QD=10.46;ReadPosRankSum=-0.312;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342960 GT:AD:DP:GQ:PL 0/1:7,6:13:99:166,0,192
1 145300087 rs7544347 A G 290.07 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=21.5;MQ0=0;QD=22.31;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342960 GT:AD:DP:GQ:PL 1/1:0,13:13:36.02:323,36,0
1 145300096 rs9424712 T C 236.73 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=21.4;MQ0=0;QD=21.52;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342960 GT:AD:DP:GQ:PL 1/1:0,11:11:30.02:270,30,0
1 145301587 rs146347369 G T 363.35 MQFilter40 AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=2.229;DB;DP=96;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.5784;MQ=18.49;MQ0=43;MQRankSum=1.477;QD=3.78;ReadPosRankSum=-0.413;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342960 GT:AD:DP:GQ:PL 0/1:64,32:96:99:393,0,584
1 145301697 rs75611366 C T 1742.32 MQFilter40 AB=0.612;AC=1;AF=0.50;AN=2;BaseQRankSum=-7.985;DB;DP=250;DS;Dels=0.0;FS=6.451;HRun=0;HaplotypeScore=7.3744;MQ=33.28;MQ0=43;MQRankSum=-1.399;QD=6.97;ReadPosRankSum=0.233;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342960 GT:AD:DP:GQ:PL 0/1:153,97:250:99:1772,0,2908
1 145301793 rs75332562 A G 993.53 MQFilter40 AB=0.68;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.654;DB;DP=250;DS;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=3.1985;MQ=28.5;MQ0=67;MQRankSum=-1.401;QD=3.97;ReadPosRankSum=-0.14;SNPEFF_AMINO_ACID_CHANGE=A279;SNPEFF_CODON_CHANGE=gcA/gcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_145301720_145301822;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000448873 GT:AD:DP:GQ:PL 0/1:170,80:250:99:1024,0,2847
1 145301802 rs6690575 C G 743.42 MQFilter40 AB=0.716;AC=1;AF=0.50;AN=2;BaseQRankSum=0.349;DB;DP=243;DS;Dels=0.0;FS=2.645;HRun=0;HaplotypeScore=1.9572;MQ=27.51;MQ0=70;MQRankSum=-2.191;QD=3.06;ReadPosRankSum=0.711;SNPEFF_AMINO_ACID_CHANGE=L282;SNPEFF_CODON_CHANGE=ctC/ctG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_145301720_145301822;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000448873 GT:AD:DP:GQ:PL 0/1:174,69:243:99:773,0,2824
1 145301853 rs61814641 C G 1109.03 MQFilter40 AB=0.473;AC=1;AF=0.50;AN=2;BaseQRankSum=7.093;DB;DP=171;DS;Dels=0.0;FS=10.3;HRun=4;HaplotypeScore=1.8606;MQ=30.37;MQ0=41;MQRankSum=-5.022;QD=6.49;ReadPosRankSum=0.559;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342960 GT:AD:DP:GQ:PL 0/1:69,77:171:99:1139,0,1729
1 145301887 rs6683593 G A 541.94 MQFilter40 AB=0.764;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.198;DB;DP=140;DS;Dels=0.0;FS=2.506;HRun=0;HaplotypeScore=1.6439;MQ=32.0;MQ0=30;MQRankSum=-0.773;QD=3.87;ReadPosRankSum=-0.191;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342960 GT:AD:DP:GQ:PL 0/1:107,33:140:99:572,0,2045
1 145301907 rs6697832 A C 991.73 MQFilter40 AB=0.68;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.179;DB;DP=128;Dels=0.0;FS=2.535;HRun=0;HaplotypeScore=0.9997;MQ=33.74;MQ0=23;MQRankSum=-0.297;QD=7.75;ReadPosRankSum=-1.144;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342960 GT:AD:DP:GQ:PL 0/1:87,41:128:99:1022,0,1682
1 145302047 rs3979917 G T 121.15 MQFilter40 AB=0.647;AC=1;AF=0.50;AN=2;BaseQRankSum=1.093;DB;DP=17;Dels=0.0;FS=3.424;HRun=2;HaplotypeScore=0.0;MQ=39.03;MQ0=4;MQRankSum=-1.493;QD=7.13;ReadPosRankSum=0.555;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342960 GT:AD:DP:GQ:PL 0/1:11,6:17:99:151,0,213
1 145302505 rs74657263 G C 412.84 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=22.14;MQ0=1;QD=14.24;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342960 GT:AD:DP:GQ:PL 1/1:0,29:29:42.04:446,42,0
1 145302704 rs141935360 A G 127.53 HaplotypeScoreFilter13;MQFilter40;QDFilter2 AB=0.69;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.038;DB;DP=187;Dels=0.0;FS=52.139;HRun=2;HaplotypeScore=27.0218;MQ=31.97;MQ0=18;MQRankSum=-7.192;QD=0.68;ReadPosRankSum=-1.467;SNPEFF_AMINO_ACID_CHANGE=K110R;SNPEFF_CODON_CHANGE=aAg/aGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_145302654_145302868;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000369334 GT:AD:DP:GQ:PL 0/1:129,58:187:99:158,0,3340
1 145303760 . G C 196.49 MQFilter40 AB=0.476;AC=1;AF=0.50;AN=2;BaseQRankSum=0.133;DP=21;Dels=0.0;FS=8.921;HRun=1;HaplotypeScore=0.9789;MQ=25.27;MQ0=3;MQRankSum=0.755;QD=9.36;ReadPosRankSum=-0.133;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342960 GT:AD:DP:GQ:PL 0/1:10,11:21:99:226,0,142
1 145303971 rs146037073 A G 88.40 QDFilter2 AB=0.862;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.797;DB;DP=225;DS;Dels=0.0;FS=50.203;HRun=0;HaplotypeScore=1.9578;MQ=44.76;MQ0=9;MQRankSum=-6.307;QD=0.39;ReadPosRankSum=0.157;SNPEFF_AMINO_ACID_CHANGE=S185;SNPEFF_CODON_CHANGE=tcA/tcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_145303910_145303982;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000369334 GT:AD:DP:GQ:PL 0/1:194,31:225:99:118,0,5798
1 145304153 rs79958378 A G 600.15 MQFilter40 AB=0.588;AC=1;AF=0.50;AN=2;BaseQRankSum=3.627;DB;DP=51;Dels=0.0;FS=2.0;HRun=0;HaplotypeScore=0.0;MQ=38.0;MQ0=0;MQRankSum=0.526;QD=11.77;ReadPosRankSum=2.67;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342960 GT:AD:DP:GQ:PL 0/1:30,21:51:99:630,0,870
1 145304180 rs76221302 G T 50.96 MQFilter40 AB=0.84;AC=1;AF=0.50;AN=2;BaseQRankSum=1.964;DB;DP=25;Dels=0.0;FS=2.695;HRun=1;HaplotypeScore=0.0;MQ=34.24;MQ0=0;MQRankSum=0.259;QD=2.04;ReadPosRankSum=0.259;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342960 GT:AD:DP:GQ:PL 0/1:21,4:25:80.95:81,0,525
1 145310197 rs7554921 C T 1398.26 MQFilter40 AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=5.969;DB;DP=143;Dels=0.0;FS=5.069;HRun=2;HaplotypeScore=0.0;MQ=29.68;MQ0=6;MQRankSum=-4.783;QD=9.78;ReadPosRankSum=3.254;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342960 GT:AD:DP:GQ:PL 0/1:65,78:143:99:1428,0,1876
1 145310282 rs10910795 C T 171.44 MQFilter40 AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=1.554;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=6.8521;MQ=29.73;MQ0=5;MQRankSum=1.012;QD=5.36;ReadPosRankSum=0.419;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342960 GT:AD:DP:GQ:PL 0/1:20,12:32:99:201,0,357
1 145310283 rs7546107 G A 46.01 MQFilter40;QDFilter2 AB=0.633;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.333;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=6.8521;MQ=29.18;MQ0=5;MQRankSum=-2.149;QD=1.53;ReadPosRankSum=-0.757;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342960 GT:AD:DP:GQ:PL 0/1:19,11:30:76:76,0,476
1 145310932 rs142756325 C A 195.91 MQFilter40 AB=0.772;AC=1;AF=0.50;AN=2;BaseQRankSum=1.686;DB;DP=57;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=29.75;MQ0=7;MQRankSum=-0.304;QD=3.44;ReadPosRankSum=0.375;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342960 GT:AD:DP:GQ:PL 0/1:44,13:57:99:226,0,894
1 145310971 rs139987921 G C 395.01 MQFilter40 AB=0.81;AC=1;AF=0.50;AN=2;BaseQRankSum=1.276;DB;DP=116;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=32.52;MQ0=9;MQRankSum=-1.422;QD=3.41;ReadPosRankSum=-1.299;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342960 GT:AD:DP:GQ:PL 0/1:94,22:116:99:425,0,1981
1 145310983 rs116247129 G C 1440.70 MQFilter40 AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=3.909;DB;DP=158;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.8603;MQ=39.21;MQ0=7;MQRankSum=-1.516;QD=9.12;ReadPosRankSum=-1.017;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342960 GT:AD:DP:GQ:PL 0/1:85,73:158:99:1471,0,2059
1 145311083 . A C 2723.73 PASS AB=0.551;AC=1;AF=0.50;AN=2;BaseQRankSum=4.981;DP=246;DS;Dels=0.0;FS=6.58;HRun=1;HaplotypeScore=6.6637;MQ=45.11;MQ0=6;MQRankSum=-3.473;QD=11.07;ReadPosRankSum=2.921;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342960 GT:AD:DP:GQ:PL 0/1:135,110:246:99:2754,0,4124
1 145311110 rs141899955 G C 1238.26 MQFilter40 AB=0.78;AC=1;AF=0.50;AN=2;BaseQRankSum=1.413;DB;DP=250;DS;Dels=0.0;FS=2.095;HRun=0;HaplotypeScore=1.5317;MQ=38.18;MQ0=19;MQRankSum=-0.224;QD=4.95;ReadPosRankSum=0.903;SNPEFF_AMINO_ACID_CHANGE=V278L;SNPEFF_CODON_CHANGE=Gtg/Ctg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_145311103_145311154;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000369334 GT:AD:DP:GQ:PL 0/1:195,55:250:99:1268,0,4665
1 145311230 . C G 77.76 MQFilter40;QDFilter2 AB=0.887;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.179;DP=213;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.8865;MQ=38.39;MQ0=1;MQRankSum=-2.484;QD=0.37;ReadPosRankSum=-2.397;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342960 GT:AD:DP:GQ:PL 0/1:189,24:213:99:108,0,5461
1 145311828 rs12135693 C G 3445.67 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=199;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=27.84;MQ0=34;QD=17.23;SNPEFF_AMINO_ACID_CHANGE=F359L;SNPEFF_CODON_CHANGE=ttC/ttG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_145311792_145311958;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000369338 GT:AD:DP:GQ:PL 1/1:0,199:199:99:3446,277,0
1 145312707 rs192293322 G T 105.54 MQFilter40;QDFilter2 AB=0.78;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.068;DB;DP=250;DS;Dels=0.0;FS=2.881;HRun=0;HaplotypeScore=1.9536;MQ=8.46;MQ0=156;MQRankSum=-2.006;QD=0.42;ReadPosRankSum=-0.982;SNPEFF_AMINO_ACID_CHANGE=D413Y;SNPEFF_CODON_CHANGE=Gac/Tac;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_145312678_145312729;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000369338 GT:AD:DP:GQ:PL 0/1:195,55:250:99:136,0,209
1 145323444 . G C 840.87 MQFilter40 AB=0.652;AC=1;AF=0.50;AN=2;BaseQRankSum=1.757;DP=89;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=24.25;MQ0=7;MQRankSum=4.616;QD=9.45;ReadPosRankSum=-2.007;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342960 GT:AD:DP:GQ:PL 0/1:58,31:89:99:871,0,348
1 145323487 . C G 243.14 MQFilter40;QDFilter2 AB=0.884;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.094;DP=250;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.5592;MQ=19.94;MQ0=103;MQRankSum=0.129;QD=0.97;ReadPosRankSum=-0.403;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342960 GT:AD:DP:GQ:PL 0/1:221,29:250:99:273,0,2280
1 145323491 . A G 206.56 MQFilter40;QDFilter2 AB=0.884;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.519;DP=249;DS;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.5592;MQ=19.74;MQ0=104;MQRankSum=0.432;QD=0.83;ReadPosRankSum=-0.496;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342960 GT:AD:DP:GQ:PL 0/1:220,29:249:99:237,0,2256
1 145323539 rs145819114 T G 1046.89 MQFilter40 AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.994;DB;DP=250;DS;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9933;MQ=20.08;MQ0=109;MQRankSum=1.772;QD=4.19;ReadPosRankSum=-0.356;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342960 GT:AD:DP:GQ:PL 0/1:175,75:250:99:1077,0,1731
1 145323656 rs75252120 A T 519.82 PASS AB=0.812;AC=1;AF=0.50;AN=2;BaseQRankSum=0.721;DB;DP=250;DS;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9996;MQ=41.61;MQ0=10;MQRankSum=-1.192;QD=2.08;ReadPosRankSum=1.151;SNPEFF_AMINO_ACID_CHANGE=I1165F;SNPEFF_CODON_CHANGE=Att/Ttt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_145323654_145323705;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000342960 GT:AD:DP:GQ:PL 0/1:203,47:250:99:550,0,6493
1 145323757 rs149367355 A T 4385.97 MQFilter40 AB=0.121;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.701;DB;DP=247;DS;Dels=0.0;FS=17.662;HRun=0;HaplotypeScore=2.307;MQ=26.62;MQ0=19;MQRankSum=-3.974;QD=17.76;ReadPosRankSum=-1.644;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464433 GT:AD:DP:GQ:PL 0/1:30,217:247:99:4386,0,373
1 145323943 . C T 726.21 MQFilter40 AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=3.424;DP=66;Dels=0.0;FS=5.911;HRun=0;HaplotypeScore=0.9578;MQ=22.66;MQ0=24;MQRankSum=-0.186;QD=11.0;ReadPosRankSum=2.335;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464433 GT:AD:DP:GQ:PL 0/1:33,33:66:99:756,0,220
1 145325800 . G A 268.33 MQFilter40 AB=0.49;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.19;DP=51;Dels=0.0;FS=7.048;HRun=0;HaplotypeScore=0.0;MQ=19.31;MQ0=10;MQRankSum=-0.406;QD=5.26;ReadPosRankSum=-0.433;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464433 GT:AD:DP:GQ:PL 0/1:25,26:51:99:298,0,306
1 145325899 . A G 53.70 MQFilter40 AC=2;AF=1.00;AN=2;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=16.64;MQ0=3;QD=3.84;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464433 GT:AD:DP:GQ:PL 1/1:0,14:14:9:86,9,0
1 145327548 . A G 271.67 MQFilter40 AB=0.316;AC=1;AF=0.50;AN=2;BaseQRankSum=2.422;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.133;MQ=25.03;MQ0=1;MQRankSum=0.807;QD=13.58;ReadPosRankSum=-0.807;SNPEFF_AMINO_ACID_CHANGE=N1369D;SNPEFF_CODON_CHANGE=Aat/Gat;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_145327493_145327665;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000342960 GT:AD:DP:GQ:PL 0/1:6,13:20:6.91:301,0,7
1 145354109 . T C 549.07 MQFilter40 AB=0.757;AC=1;AF=0.50;AN=2;BaseQRankSum=3.715;DP=136;Dels=0.0;FS=9.698;HRun=0;HaplotypeScore=0.0;MQ=21.93;MQ0=18;MQRankSum=4.075;QD=4.04;ReadPosRankSum=1.63;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342960 GT:AD:DP:GQ:PL 0/1:103,33:136:99:579,0,1520
1 145354129 . C T 565.13 MQFilter40 AB=0.796;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.495;DP=162;Dels=0.0;FS=11.084;HRun=0;HaplotypeScore=3.3832;MQ=19.75;MQ0=45;MQRankSum=3.757;QD=3.49;ReadPosRankSum=-2.602;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342960 GT:AD:DP:GQ:PL 0/1:129,33:162:99:595,0,1474
1 145355601 . T C 55.71 MQFilter40;QDFilter2 AB=0.86;AC=1;AF=0.50;AN=2;BaseQRankSum=1.08;DP=44;Dels=0.0;FS=2.526;HRun=0;HaplotypeScore=2.8643;MQ=36.1;MQ0=5;MQRankSum=-1.771;QD=1.27;ReadPosRankSum=0.605;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000449032 GT:AD:DP:GQ:PL 0/1:37,6:44:85.70:86,0,960
1 145355624 rs142055197 C T 904.02 MQFilter40 AB=0.396;AC=1;AF=0.50;AN=2;BaseQRankSum=2.861;DB;DP=53;Dels=0.0;FS=7.02;HRun=0;HaplotypeScore=0.7887;MQ=38.06;MQ0=2;MQRankSum=-0.22;QD=17.06;ReadPosRankSum=-0.278;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000449032 GT:AD:DP:GQ:PL 0/1:21,32:53:99:934,0,479
1 145359049 . A G 31.82 MQFilter40;QDFilter2 AC=2;AF=1.00;AN=2;DP=67;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=10.64;MQ0=24;QD=0.47;SNPEFF_AMINO_ACID_CHANGE=K2997E;SNPEFF_CODON_CHANGE=Aaa/Gaa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_145359015_145359187;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000342960 GT:AD:DP:GQ:PL 1/1:0,67:67:6.01:63,6,0
1 145367466 rs3929731 C G 893.26 MQFilter40 AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=0.86;DB;DP=97;Dels=0.0;FS=2.252;HRun=0;HaplotypeScore=0.0;MQ=39.27;MQ0=27;MQRankSum=0.126;QD=9.21;ReadPosRankSum=0.295;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342960 GT:AD:DP:GQ:PL 0/1:54,42:97:99:923,0,1010
1 145367657 rs147722843 T G 279.85 MQFilter40;QDFilter2 AB=0.911;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.031;DB;DP=248;DS;Dels=0.0;FS=1.002;HRun=0;HaplotypeScore=5.0706;MQ=25.63;MQ0=3;MQRankSum=3.092;QD=1.13;ReadPosRankSum=0.871;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342960 GT:AD:DP:GQ:PL 0/1:226,22:248:99:310,0,1904
1 145367800 . G A 262.67 MQFilter40;QDFilter2 AB=0.892;AC=1;AF=0.50;AN=2;BaseQRankSum=2.864;DP=249;DS;Dels=0.0;FS=0.906;HRun=2;HaplotypeScore=3.2145;MQ=34.22;MQ0=6;MQRankSum=1.467;QD=1.05;ReadPosRankSum=-0.213;SNPEFF_AMINO_ACID_CHANGE=D3466N;SNPEFF_CODON_CHANGE=Gat/Aat;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_145367714_145367822;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000342960 GT:AD:DP:GQ:PL 0/1:222,27:249:99:293,0,4594
1 145367839 . G C 919.56 MQFilter40 AB=0.797;AC=1;AF=0.50;AN=2;BaseQRankSum=2.988;DP=238;DS;Dels=0.0;FS=10.575;HRun=0;HaplotypeScore=7.6159;MQ=38.75;MQ0=7;MQRankSum=-1.626;QD=3.86;ReadPosRankSum=-0.065;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000448873 GT:AD:DP:GQ:PL 0/1:189,48:238:99:950,0,5167
1 145367863 rs78014802 A T 1852.24 MQFilter40 AB=0.606;AC=1;AF=0.50;AN=2;BaseQRankSum=7.345;DB;DP=220;DS;Dels=0.0;FS=24.687;HRun=0;HaplotypeScore=2.9653;MQ=37.94;MQ0=8;MQRankSum=-3.786;QD=8.42;ReadPosRankSum=0.417;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000448873 GT:AD:DP:GQ:PL 0/1:132,86:220:99:1882,0,3526
1 145367906 rs74761968 A T 1009.24 HaplotypeScoreFilter13;MQFilter40;SnpCluster AB=0.535;AC=1;AF=0.50;AN=2;BaseQRankSum=3.801;DB;DP=157;DS;Dels=0.0;FS=13.701;HRun=0;HaplotypeScore=56.9494;MQ=33.4;MQ0=18;MQRankSum=-4.807;QD=6.43;ReadPosRankSum=-1.403;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000448873 GT:AD:DP:GQ:PL 0/1:84,73:157:99:1039,0,1903
1 145367909 . T C 288.74 HaplotypeScoreFilter13;MQFilter40;QDFilter2;SnpCluster AB=0.812;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.815;DP=154;DS;Dels=0.0;FS=28.805;HRun=0;HaplotypeScore=56.9587;MQ=32.97;MQ0=19;MQRankSum=-0.502;QD=1.87;ReadPosRankSum=0.227;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000448873 GT:AD:DP:GQ:PL 0/1:125,29:154:99:319,0,2577
1 145367910 rs74347725 G A 371.86 HaplotypeScoreFilter13;MQFilter40;SnpCluster AB=0.729;AC=1;AF=0.50;AN=2;BaseQRankSum=0.221;DB;DP=155;DS;Dels=0.0;FS=2.585;HRun=0;HaplotypeScore=56.9587;MQ=32.98;MQ0=20;MQRankSum=-4.262;QD=2.4;ReadPosRankSum=-1.145;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000448873 GT:AD:DP:GQ:PL 0/1:113,42:155:99:402,0,2662
1 145367919 rs77463801 G A 279.18 HaplotypeScoreFilter13;MQFilter40;SnpCluster AB=0.77;AC=1;AF=0.50;AN=2;BaseQRankSum=0.427;DB;DP=139;DS;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=27.4328;MQ=32.41;MQ0=21;MQRankSum=-2.831;QD=2.01;ReadPosRankSum=2.289;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000448873 GT:AD:DP:GQ:PL 0/1:107,32:139:99:309,0,2397
1 145368047 . C T 71.26 MQFilter40;QDFilter2 AB=0.821;AC=1;AF=0.50;AN=2;BaseQRankSum=3.126;DP=39;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=20.43;MQ0=12;MQRankSum=-0.249;QD=1.83;ReadPosRankSum=0.138;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000448873 GT:AD:DP:GQ:PL 0/1:32,7:39:99:101,0,429
1 145368118 rs71527392 T A 95.17 MQFilter40 AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.234;DB;DP=18;Dels=0.0;FS=2.398;HRun=0;HaplotypeScore=0.0;MQ=28.49;MQ0=0;MQRankSum=1.733;QD=5.29;ReadPosRankSum=0.14;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000448873 GT:AD:DP:GQ:PL 0/1:12,6:18:99:125,0,243
1 145368146 rs11802634 G C 62.97 MQFilter40 AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.978;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9983;MQ=30.34;MQ0=0;MQRankSum=0.978;QD=4.84;ReadPosRankSum=0.271;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000448873 GT:AD:DP:GQ:PL 0/1:8,5:13:92.97:93,0,189
1 145368461 rs12128680 A C 1547.57 PASS AB=0.759;AC=1;AF=0.50;AN=2;BaseQRankSum=3.095;DB;DP=250;DS;Dels=0.0;FS=4.483;HRun=0;HaplotypeScore=0.9832;MQ=46.85;MQ0=28;MQRankSum=1.763;QD=6.19;ReadPosRankSum=0.267;SNPEFF_AMINO_ACID_CHANGE=E3480A;SNPEFF_CODON_CHANGE=gAa/gCa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_145368441_145368684;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000342960 GT:AD:DP:GQ:PL 0/1:189,60:250:99:1578,0,5192
1 145368837 rs7414890 C A 995.87 MQFilter40 AB=0.441;AC=1;AF=0.50;AN=2;BaseQRankSum=1.278;DB;DP=68;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=5.1575;MQ=37.19;MQ0=6;MQRankSum=-0.099;QD=14.65;ReadPosRankSum=-1.718;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342960 GT:AD:DP:GQ:PL 0/1:30,38:68:99:1026,0,715
1 145368871 rs7416122 A G 799.44 MQFilter40 AC=2;AF=1.00;AN=2;BaseQRankSum=1.609;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9092;MQ=29.31;MQ0=4;MQRankSum=-1.733;QD=24.98;ReadPosRankSum=1.114;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342960 GT:AD:DP:GQ:PL 1/1:1,31:32:75.17:832,75,0
1 145456732 . GA G 35.75 QDFilter2 AB=0.831;AC=1;AF=0.50;AN=2;BaseQRankSum=0.345;DP=69;FS=0.0;HRun=14;HaplotypeScore=323.2224;IndelType=D;MQ=57.78;MQ0=0;MQRankSum=0.964;QD=0.52;ReadPosRankSum=0.06;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POLR3GL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369313 GT:AD:DP:GQ:PL 0/1:55,12:69:74.77:75,0,852
1 145510376 rs147038428 A G 50.96 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=23.0;MQ0=0;QD=16.99;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GNRHR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469718 GT:AD:DP:GQ:PL 1/1:0,3:3:9.01:83,9,0
1 145517561 rs4471211 C T 166.57 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=2.359;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.408;QD=15.14;ReadPosRankSum=0.717;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PEX11B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369306 GT:AD:DP:GQ:PL 0/1:5,6:11:99:197,0,151
1 145531980 rs4384171 T C 140 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGA10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468261 GT:AD:DP:GQ:PL 1/1:0,5:5:15.02:173,15,0
1 145532549 rs1328584 T C 2409.40 PASS AC=2;AF=1.00;AN=2;DB;DP=73;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.11;MQ0=0;QD=33.01;SNPEFF_AMINO_ACID_CHANGE=F191;SNPEFF_CODON_CHANGE=ttT/ttC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_145532457_145532622;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGA10;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000539363 GT:AD:DP:GQ:PL 1/1:0,73:73:99:2442,187,0
1 145532994 rs34834904 GT G 257.18 PASS AB=0.758;AC=1;AF=0.50;AN=2;BaseQRankSum=5.323;DB;DP=47;FS=0.0;HRun=8;HaplotypeScore=172.9553;IndelType=D;MQ=59.25;MQ0=0;MQRankSum=0.074;QD=5.47;ReadPosRankSum=-0.644;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGA10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468261 GT:AD:DP:GQ:PL 0/1:32,15:47:99:296,0,919
1 145533175 rs11590105 T C 187.49 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.753;DB;DP=21;Dels=0.0;FS=9.223;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.56;QD=8.93;ReadPosRankSum=-0.709;SNPEFF_AMINO_ACID_CHANGE=L281;SNPEFF_CODON_CHANGE=Ttg/Ctg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_145533055_145533199;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGA10;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000539363 GT:AD:DP:GQ:PL 0/1:14,7:21:99:217,0,445
1 145533314 rs2274619 T C 275.51 PASS AB=0.722;AC=1;AF=0.50;AN=2;BaseQRankSum=2.611;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.31;QD=7.65;ReadPosRankSum=0.42;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGA10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468261 GT:AD:DP:GQ:PL 0/1:26,10:36:99:306,0,848
1 145535611 rs4970851 T G 568.83 PASS AB=0.412;AC=1;AF=0.50;AN=2;BaseQRankSum=4.084;DB;DP=35;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=2.2267;MQ=58.67;MQ0=0;MQRankSum=0.703;QD=16.25;ReadPosRankSum=1.614;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGA10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481236 GT:AD:DP:GQ:PL 0/1:14,20:35:99:599,0,318
1 145535921 rs2274617 T C 1395.90 PASS AB=0.395;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.206;DB;DP=76;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.8316;MQ=58.78;MQ0=0;MQRankSum=1.7;QD=18.37;ReadPosRankSum=-0.574;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGA10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481236 GT:AD:DP:GQ:PL 0/1:30,46:76:99:1426,0,809
1 145538664 rs1109216 A G 155.94 PASS AB=0.65;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.158;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.475;QD=7.8;ReadPosRankSum=-1.506;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGA10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369304 GT:AD:DP:GQ:PL 0/1:13,7:20:99:186,0,401
1 145555653 rs6424379 C T 947.17 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.23;MQ0=0;QD=31.57;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD35;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355594 GT:AD:DP:GQ:PL 1/1:0,30:30:75.24:980,75,0
1 145555669 rs185048927 C T 438.16 PASS AB=0.514;AC=1;AF=0.50;AN=2;BaseQRankSum=1.537;DB;DP=35;Dels=0.0;FS=5.46;HRun=0;HaplotypeScore=0.0;MQ=59.34;MQ0=0;MQRankSum=0.054;QD=12.52;ReadPosRankSum=-1.067;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD35;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355594 GT:AD:DP:GQ:PL 0/1:18,17:35:99:468,0,450
1 145556986 rs56110740 C T 519.09 PASS AB=0.485;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.234;DB;DP=33;Dels=0.0;FS=2.21;HRun=0;HaplotypeScore=0.0;MQ=58.59;MQ0=0;MQRankSum=0.45;QD=15.73;ReadPosRankSum=-0.702;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD35;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355594 GT:AD:DP:GQ:PL 0/1:16,17:33:99:549,0,475
1 145558565 rs11801520 C G 603.40 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.52;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD35;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355594 GT:AD:DP:GQ:PL 1/1:0,18:18:51.10:636,51,0
1 145558824 rs17352281 A C 937.01 PASS AB=0.493;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.27;DB;DP=69;Dels=0.0;FS=0.942;HRun=1;HaplotypeScore=1.5767;MQ=58.99;MQ0=0;MQRankSum=-1.47;QD=13.58;ReadPosRankSum=-0.882;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD35;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355594 GT:AD:DP:GQ:PL 0/1:34,35:69:99:967,0,1141
1 145561116 rs11578772 G A 248.50 PASS AB=0.586;AC=1;AF=0.50;AN=2;BaseQRankSum=0.812;DB;DP=29;Dels=0.0;FS=1.485;HRun=1;HaplotypeScore=0.9734;MQ=60.0;MQ0=0;MQRankSum=-0.07;QD=8.57;ReadPosRankSum=0.487;SNPEFF_AMINO_ACID_CHANGE=Q177;SNPEFF_CODON_CHANGE=caG/caA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_145561096_145563099;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD35;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000453670 GT:AD:DP:GQ:PL 0/1:17,12:29:99:278,0,499
1 145562087 rs41315701 G A 714.46 PASS AB=0.468;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.044;DB;DP=47;Dels=0.0;FS=4.291;HRun=1;HaplotypeScore=1.787;MQ=59.11;MQ0=0;MQRankSum=0.772;QD=15.2;ReadPosRankSum=-0.529;SNPEFF_AMINO_ACID_CHANGE=R501Q;SNPEFF_CODON_CHANGE=cGa/cAa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_145561096_145563099;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD35;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000453670 GT:AD:DP:GQ:PL 0/1:22,25:47:99:744,0,642
1 145562293 rs11579366 G C 1364.44 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.37;MQ0=0;QD=29.03;SNPEFF_AMINO_ACID_CHANGE=E570Q;SNPEFF_CODON_CHANGE=Gag/Cag;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_145561096_145563099;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD35;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000453670 GT:AD:DP:GQ:PL 1/1:0,47:47:99:1397,105,0
1 145567446 rs6673186 C T 67.79 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.6;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD35;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355594 GT:AD:DP:GQ:PL 1/1:0,3:3:9.01:100,9,0
1 145585317 rs4128488 A G 2276.94 PASS AC=2;AF=1.00;AN=2;DB;DP=79;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.7987;MQ=59.17;MQ0=0;QD=28.82;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NUDT17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334513 GT:AD:DP:GQ:PL 1/1:0,79:79:99:2310,190,0
1 145586403 rs1050057 G T 85.10 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.37;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NUDT17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460879 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:117,9,0
1 145588184 rs2004659 T C 52.28 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.14;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIAS3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369298 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
1 145588536 rs9286836 C T 272.42 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.063;DB;DP=33;Dels=0.0;FS=11.676;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.674;QD=8.26;ReadPosRankSum=-0.317;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIAS3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369298 GT:AD:DP:GQ:PL 0/1:21,12:33:99:302,0,665
1 145589491 rs1887804 A T 45.87 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.93;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIAS3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369298 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:77,6,0
1 145597116 rs9728311 C T 703.26 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.05;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POLR3C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466003 GT:AD:DP:GQ:PL 1/1:0,26:26:60.11:736,60,0
1 145597417 rs9728345 C A 132.78 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.524;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.533;QD=10.21;ReadPosRankSum=0.212;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POLR3C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466003 GT:AD:DP:GQ:PL 0/1:8,5:13:99:163,0,298
1 145598459 rs9729715 T C 1588.63 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.58;MQ0=0;QD=28.88;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POLR3C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466003 GT:AD:DP:GQ:PL 1/1:0,54:55:99:1622,135,0
1 145601861 rs9286837 G A 1856.56 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9665;MQ=59.6;MQ0=0;QD=32.57;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POLR3C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334163 GT:AD:DP:GQ:PL 1/1:0,57:57:99:1890,141,0
1 145645881 rs115465737 A C 53.52 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.76;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RNF115;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369291 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:85,6,0
1 145696694 rs2231375 G A 250.10 PASS AB=0.529;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.588;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.914;QD=14.71;ReadPosRankSum=0.048;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD160;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000235933 GT:AD:DP:GQ:PL 0/1:9,8:17:99:280,0,325
1 145826770 rs34955113 G A 208.88 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.81;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR89A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313835 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:242,18,0
1 146013577 rs145151412 A C 1092.73 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=28.44;MQ0=20;QD=19.17;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP11-94I2.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420737 GT:AD:DP:GQ:PL 1/1:0,57:57:99:1126,99,0
1 146019650 . A G 32.06 MQFilter40;QDFilter2 AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.359;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=12.92;MQ0=11;MQRankSum=0.466;QD=1.46;ReadPosRankSum=-0.387;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP11-94I2.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420737 GT:AD:DP:GQ:PL 0/1:8,14:22:55.03:62,0,55
1 146057292 . T C 824.24 MQFilter40 AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=1.992;DP=248;DS;Dels=0.0;FS=5.203;HRun=0;HaplotypeScore=0.0;MQ=14.74;MQ0=155;MQRankSum=0.648;QD=3.32;ReadPosRankSum=-0.555;SNPEFF_AMINO_ACID_CHANGE=N53S;SNPEFF_CODON_CHANGE=aAc/aGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_146057275_146057484;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF11;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000339388 GT:AD:DP:GQ:PL 0/1:177,71:248:99:854,0,987
1 146215022 . T C 282.65 MQFilter40;QDFilter2 AC=2;AF=1.00;AN=2;BaseQRankSum=1.714;DP=193;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=4.279;MQ=8.92;MQ0=106;MQRankSum=3.873;QD=1.46;ReadPosRankSum=0.174;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WI2-3658N16.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000436832 GT:AD:DP:GQ:PL 1/1:93,99:193:38.89:316,39,0
1 146215111 . G A 2910.02 MQFilter40 AC=2;AF=1.00;AN=2;BaseQRankSum=-2.229;DP=249;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=5.7268;MQ=18.63;MQ0=96;MQRankSum=6.714;QD=11.69;ReadPosRankSum=-2.648;SNPEFF_AMINO_ACID_CHANGE=H84;SNPEFF_CODON_CHANGE=caC/caT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_146214665_146215318;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WI2-3658N16.1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000436832 GT:AD:DP:GQ:PL 1/1:94,155:249:99:2943,278,0
1 146215113 . G A 2917.27 MQFilter40 AC=2;AF=1.00;AN=2;BaseQRankSum=0.766;DP=250;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=5.7268;MQ=19.1;MQ0=94;MQRankSum=6.726;QD=11.67;ReadPosRankSum=-2.11;SNPEFF_AMINO_ACID_CHANGE=H84Y;SNPEFF_CODON_CHANGE=Cac/Tac;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_146214665_146215318;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WI2-3658N16.1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000436832 GT:AD:DP:GQ:PL 1/1:93,157:250:99:2950,281,0
1 146215138 . A G 3403.51 MQFilter40 AC=2;AF=1.00;AN=2;BaseQRankSum=0.133;DP=227;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.2312;MQ=20.78;MQ0=68;MQRankSum=6.607;QD=14.99;ReadPosRankSum=4.704;SNPEFF_AMINO_ACID_CHANGE=F75;SNPEFF_CODON_CHANGE=ttT/ttC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_146214665_146215318;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WI2-3658N16.1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000436832 GT:AD:DP:GQ:PL 1/1:60,167:227:99:3404,338,0
1 146215189 . G C 1184.25 MQFilter40 AB=0.592;AC=1;AF=0.50;AN=2;BaseQRankSum=1.254;DP=250;DS;Dels=0.0;FS=1.811;HRun=0;HaplotypeScore=1.4538;MQ=19.06;MQ0=111;MQRankSum=2.093;QD=4.74;ReadPosRankSum=-0.662;SNPEFF_AMINO_ACID_CHANGE=Y58*;SNPEFF_CODON_CHANGE=taC/taG;SNPEFF_EFFECT=STOP_GAINED;SNPEFF_EXON_ID=exon_1_146214665_146215318;SNPEFF_FUNCTIONAL_CLASS=NONSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WI2-3658N16.1;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000436832 GT:AD:DP:GQ:PL 0/1:148,102:250:99:1214,0,966
1 146215223 rs72475588 G C 1364.04 MQFilter40 AC=2;AF=1.00;AN=2;BaseQRankSum=-4.556;DB;DP=241;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=13.24;MQ0=149;MQRankSum=4.27;QD=5.66;ReadPosRankSum=-1.714;SNPEFF_AMINO_ACID_CHANGE=P47R;SNPEFF_CODON_CHANGE=cCt/cGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_146214665_146215318;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WI2-3658N16.1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000436832 GT:AD:DP:GQ:PL 1/1:46,195:241:99:1397,144,0
1 146215232 rs72475587 A C 1467.91 MQFilter40 AC=2;AF=1.00;AN=2;BaseQRankSum=0.53;DB;DP=248;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=6.8867;MQ=12.82;MQ0=159;MQRankSum=4.328;QD=5.92;ReadPosRankSum=-2.498;SNPEFF_AMINO_ACID_CHANGE=F44C;SNPEFF_CODON_CHANGE=tTt/tGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_146214665_146215318;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WI2-3658N16.1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000436832 GT:AD:DP:GQ:PL 1/1:46,201:248:99:1501,147,0
1 146215276 . C T 801.46 MQFilter40 AC=2;AF=1.00;AN=2;BaseQRankSum=-1.273;DP=250;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9789;MQ=9.46;MQ0=197;MQRankSum=2.888;QD=3.21;ReadPosRankSum=1.328;SNPEFF_AMINO_ACID_CHANGE=L29;SNPEFF_CODON_CHANGE=ttG/ttA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_146214665_146215318;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WI2-3658N16.1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000436832 GT:AD:DP:GQ:PL 1/1:35,214:250:89.89:834,90,0
1 146215376 . T C 78.41 MQFilter40;QDFilter2 AB=0.034;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.456;DP=147;DS;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.9402;MQ=4.91;MQ0=133;MQRankSum=-1.187;QD=0.53;ReadPosRankSum=0.456;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WI2-3658N16.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000436832 GT:AD:DP:GQ:PL 0/1:5,142:147:9.70:108,0,10
1 146216713 . T C 35.63 MQFilter40 AC=2;AF=1.00;AN=2;BaseQRankSum=-1.026;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=19.85;MQ0=1;MQRankSum=1.026;QD=7.13;ReadPosRankSum=1.026;SNPEFF_EFFECT=INTRAGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WI2-3658N16.1;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 1/1:3,2:5:6.02:67,6,0
1 146227919 . GA G 241.14 PASS AC=2;AF=1.00;AN=2;DP=8;FS=0.0;HRun=4;HaplotypeScore=26.7259;IndelType=D;MQ=9.0;MQ0=41;QD=2.51;SNPEFF_EFFECT=INTRAGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WI2-3658N16.1;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 1/1:17,79:8:24.07:283,24,0
1 146244609 . C T 515.66 MQFilter40 AC=2;AF=1.00;AN=2;BaseQRankSum=1.307;DP=235;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=6.55;MQ0=190;MQRankSum=2.86;QD=2.19;ReadPosRankSum=-3.353;SNPEFF_AMINO_ACID_CHANGE=R227H;SNPEFF_CODON_CHANGE=cGc/cAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_146244509_146244717;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WI2-3658N16.1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000429672 GT:AD:DP:GQ:PL 1/1:188,47:235:62.79:549,63,0
1 146395722 rs142655742 A G 80.50 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=37.0;MQ0=0;QD=26.83;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309471 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:113,9,0
1 146398203 . A G 868.79 MQFilter40 AB=0.522;AC=1;AF=0.50;AN=2;BaseQRankSum=2.208;DP=116;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=3.313;MQ=20.6;MQ0=21;MQRankSum=1.081;QD=7.49;ReadPosRankSum=-0.393;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309471 GT:AD:DP:GQ:PL 0/1:60,55:116:99:899,0,862
1 146398208 . A G 932.43 MQFilter40 AB=0.524;AC=1;AF=0.50;AN=2;BaseQRankSum=-7.561;DP=124;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=4.2997;MQ=21.83;MQ0=17;MQRankSum=0.414;QD=7.52;ReadPosRankSum=-0.645;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309471 GT:AD:DP:GQ:PL 0/1:65,59:124:99:962,0,1035
1 146399411 . G A 89.71 MQFilter40 AC=2;AF=1.00;AN=2;BaseQRankSum=-1.589;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=15.4;MQ0=5;MQRankSum=1.067;QD=6.9;ReadPosRankSum=-1.067;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309471 GT:AD:DP:GQ:PL 1/1:4,9:13:12.02:122,12,0
1 146409969 . A C 58.22 MQFilter40;QDFilter2 AB=0.67;AC=1;AF=0.50;AN=2;BaseQRankSum=4.816;DP=209;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.4304;MQ=7.86;MQ0=118;MQRankSum=0.117;QD=0.28;ReadPosRankSum=-0.36;SNPEFF_AMINO_ACID_CHANGE=I263L;SNPEFF_CODON_CHANGE=Ata/Cta;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_146409946_146410048;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF12;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000309471 GT:AD:DP:GQ:PL 0/1:140,69:209:88.21:88,0,149
1 146465443 . A C 68.27 MQFilter40 AC=2;AF=1.00;AN=2;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=10.25;MQ0=21;QD=2.84;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000446080 GT:AD:DP:GQ:PL 1/1:21,3:24:9.02:100,9,0
1 146465444 . G C 68.27 MQFilter40 AC=2;AF=1.00;AN=2;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=10.25;MQ0=21;QD=2.84;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000446080 GT:AD:DP:GQ:PL 1/1:21,3:24:9.02:100,9,0
1 146465636 . C G 415.14 MQFilter40 AB=0.211;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.953;DP=19;Dels=0.0;FS=2.808;HRun=1;HaplotypeScore=0.0;MQ=30.36;MQ0=4;MQRankSum=1.444;QD=21.85;ReadPosRankSum=-1.444;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000446080 GT:AD:DP:GQ:PL 0/1:4,15:19:21.85:445,0,22
1 146465784 rs139773774 C G 754.25 MQFilter40 AB=0.627;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.529;DB;DP=110;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9894;MQ=31.75;MQ0=11;MQRankSum=0.219;QD=6.86;ReadPosRankSum=-2.385;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000446080 GT:AD:DP:GQ:PL 0/1:69,41:110:99:784,0,1472
1 146466146 . G T 1352.28 MQFilter40 AB=0.597;AC=1;AF=0.50;AN=2;BaseQRankSum=2.679;DP=211;DS;Dels=0.0;FS=1.27;HRun=1;HaplotypeScore=0.0;MQ=20.19;MQ0=94;MQRankSum=1.165;QD=6.41;ReadPosRankSum=-0.872;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000446080 GT:AD:DP:GQ:PL 0/1:126,85:211:99:1382,0,697
1 146466322 rs1284539 A G 68.27 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=17.47;MQ0=5;QD=7.59;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309471 GT:AD:DP:GQ:PL 1/1:0,9:9:9.02:100,9,0
1 146494510 rs11585592 T C 82.91 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.362;DB;DP=20;Dels=0.0;FS=1.957;HRun=0;HaplotypeScore=0.0;MQ=44.59;MQ0=0;MQRankSum=-3.592;QD=4.15;ReadPosRankSum=-0.289;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP11-325P15.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000444082 GT:AD:DP:GQ:PL 0/1:8,12:20:99:113,0,250
1 146494511 rs11587748 G A 91.54 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.124;DB;DP=20;Dels=0.0;FS=1.957;HRun=0;HaplotypeScore=0.0;MQ=44.59;MQ0=0;MQRankSum=-3.592;QD=4.58;ReadPosRankSum=-0.372;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP11-325P15.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000444082 GT:AD:DP:GQ:PL 0/1:8,12:20:99:122,0,247
1 146495506 rs4245681 T G 195.93 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=54.43;MQ0=0;QD=27.99;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP11-325P15.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000444082 GT:AD:DP:GQ:PL 1/1:0,7:7:18.04:229,18,0
1 146495752 rs6663770 C T 87.64 PASS AB=0.767;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.396;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=48.22;MQ0=1;MQRankSum=-3.203;QD=2.92;ReadPosRankSum=1.158;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP11-325P15.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000444082 GT:AD:DP:GQ:PL 0/1:23,7:30:99:118,0,747
1 146662018 rs894467 C T 46.65 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=FMO5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000254090 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:78,6,0
1 146672906 rs894469 C T 489.60 PASS AB=0.579;AC=1;AF=0.50;AN=2;BaseQRankSum=1.242;DB;DP=38;Dels=0.0;FS=20.476;HRun=0;HaplotypeScore=0.9979;MQ=60.0;MQ0=0;MQRankSum=-0.72;QD=12.88;ReadPosRankSum=-0.506;SNPEFF_AMINO_ACID_CHANGE=P337;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_146672734_146673086;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=FMO5;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000254090 GT:AD:DP:GQ:PL 0/1:22,16:38:99:520,0,659
1 146680262 rs2354433 A G 73.58 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.727;QD=18.39;ReadPosRankSum=0.727;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=FMO5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000533174 GT:AD:DP:GQ:PL 0/1:1,3:4:29.72:104,0,30
1 146680748 rs28381196 A G 104.82 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=46.71;MQ0=0;MQRankSum=-0.731;QD=20.96;ReadPosRankSum=0.731;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=FMO5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000533174 GT:AD:DP:GQ:PL 0/1:1,4:5:26.18:135,0,26
1 146685121 rs1530336 G A 665.19 PASS AB=0.489;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.922;DB;DP=45;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=58.97;MQ0=0;MQRankSum=-0.505;QD=14.78;ReadPosRankSum=0.645;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=FMO5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478432 GT:AD:DP:GQ:PL 0/1:22,23:45:99:695,0,771
1 146687250 rs1822312 A T 149.59 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=0.466;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.466;QD=13.6;ReadPosRankSum=2.181;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=FMO5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000254090 GT:AD:DP:GQ:PL 0/1:6,5:11:99:180,0,178
1 146724093 rs1890037 A G 1012.80 PASS AB=0.385;AC=1;AF=0.50;AN=2;BaseQRankSum=1.785;DB;DP=52;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.187;QD=19.48;ReadPosRankSum=1.283;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHD1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000254086 GT:AD:DP:GQ:PL 0/1:20,32:52:99:1043,0,666
1 146728149 rs12119390 A G 518.95 PASS AB=0.553;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.252;DB;DP=48;Dels=0.0;FS=5.137;HRun=0;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=-0.974;QD=10.81;ReadPosRankSum=-2.086;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHD1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000254086 GT:AD:DP:GQ:PL 0/1:26,21:48:99:549,0,915
1 146728162 rs78348136 T TA 794.41 PASS AB=0.707;AC=1;AF=0.50;AN=2;BaseQRankSum=4.436;DB;DP=53;FS=11.888;HRun=1;HaplotypeScore=187.6445;IndelType=I;MQ=60.0;MQ0=0;MQRankSum=1.287;QD=14.99;ReadPosRankSum=-1.528;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHD1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000254086 GT:AD:DP:GQ:PL 0/1:31,22:53:99:833,0,1012
1 146739068 rs11239963 T C 321.45 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.963;DB;DP=34;Dels=0.0;FS=4.746;HRun=0;HaplotypeScore=2.6206;MQ=59.32;MQ0=0;MQRankSum=-0.551;QD=9.45;ReadPosRankSum=-0.207;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHD1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000254086 GT:AD:DP:GQ:PL 0/1:17,17:34:99:351,0,586
1 146739277 rs4143738 T C 120.76 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.466;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.408;QD=10.98;ReadPosRankSum=-0.717;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHD1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000254086 GT:AD:DP:GQ:PL 0/1:5,6:11:99:151,0,158
1 146740576 rs11576360 G A 164.83 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.524;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9469;MQ=53.03;MQ0=0;MQRankSum=-0.201;QD=11.77;ReadPosRankSum=1.154;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHD1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000254086 GT:AD:DP:GQ:PL 0/1:7,7:14:99:195,0,238
1 146747153 rs6680778 T C 904.83 PASS AB=0.527;AC=1;AF=0.50;AN=2;BaseQRankSum=1.587;DB;DP=74;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.06;MQ0=0;MQRankSum=-1.067;QD=12.23;ReadPosRankSum=-0.57;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHD1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000254086 GT:AD:DP:GQ:PL 0/1:39,35:74:99:935,0,1216
1 146751782 rs7547279 A C 955.30 PASS AB=0.431;AC=1;AF=0.50;AN=2;BaseQRankSum=4.543;DB;DP=58;Dels=0.0;FS=5.279;HRun=1;HaplotypeScore=2.9515;MQ=60.0;MQ0=0;MQRankSum=-0.844;QD=16.47;ReadPosRankSum=-1.455;SNPEFF_AMINO_ACID_CHANGE=I260;SNPEFF_CODON_CHANGE=atA/atC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_146751699_146751864;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHD1L;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000361293 GT:AD:DP:GQ:PL 0/1:25,33:58:99:985,0,684
1 146763089 rs10900333 G A 190.53 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=2.177;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.33;MQ0=0;MQRankSum=0.193;QD=13.61;ReadPosRankSum=1.625;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHD1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361293 GT:AD:DP:GQ:PL 0/1:6,8:14:99:221,0,179
1 146766069 rs71083827 C CAT 909.72 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.019;DB;DP=34;FS=0.0;HRun=0;HaplotypeScore=97.3518;IndelType=I;MQ=60.28;MQ0=0;MQRankSum=-0.811;QD=26.76;ReadPosRankSum=-2.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHD1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361293 GT:AD:DP:GQ:PL 0/1:17,17:34:99:949,0,656
1 146767149 rs4950394 G T 761 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.706;DB;DP=45;Dels=0.0;FS=1.226;HRun=1;HaplotypeScore=0.9665;MQ=60.0;MQ0=0;MQRankSum=-1.207;QD=16.91;ReadPosRankSum=-0.367;SNPEFF_AMINO_ACID_CHANGE=A604S;SNPEFF_CODON_CHANGE=Gca/Tca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_146767112_146767441;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHD1L;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000361293 GT:AD:DP:GQ:PL 0/1:18,27:45:99:791,0,440
1 146767320 rs6537 A G 75.40 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.727;QD=18.85;ReadPosRankSum=0.727;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHD1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467213 GT:AD:DP:GQ:PL 0/1:1,3:4:24.94:105,0,25
1 146767353 rs6538 G A 46.65 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.32;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHD1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467213 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:78,6,0
1 147087721 rs3737843 T A 353.06 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=2.159;DB;DP=28;Dels=0.0;FS=7.067;HRun=0;HaplotypeScore=0.0;MQ=58.5;MQ0=0;MQRankSum=-1.555;QD=12.61;ReadPosRankSum=1.091;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BCL9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473292 GT:AD:DP:GQ:PL 0/1:16,12:28:99:383,0,470
1 147091972 rs3820129 C T 446.87 PASS AB=0.433;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.679;DB;DP=31;Dels=0.0;FS=1.462;HRun=0;HaplotypeScore=1.9825;MQ=59.25;MQ0=0;MQRankSum=0.084;QD=14.42;ReadPosRankSum=1.381;SNPEFF_AMINO_ACID_CHANGE=P671S;SNPEFF_CODON_CHANGE=Cct/Tct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_147090622_147092863;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BCL9;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000234739 GT:AD:DP:GQ:PL 0/1:13,17:31:99:477,0,454
1 147092352 . G T 47.74 QDFilter2 AB=0.516;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.684;DP=31;Dels=0.0;FS=36.853;HRun=2;HaplotypeScore=0.0;MQ=49.43;MQ0=0;MQRankSum=-2.271;QD=1.54;ReadPosRankSum=-1.197;SNPEFF_AMINO_ACID_CHANGE=L797F;SNPEFF_CODON_CHANGE=ttG/ttT;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_147090622_147092863;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BCL9;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000234739 GT:AD:DP:GQ:PL 0/1:16,15:31:77.74:78,0,594
1 147092881 rs41295835 C T 422.90 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=1.349;DB;DP=32;Dels=0.0;FS=2.127;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.969;QD=13.22;ReadPosRankSum=1.273;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BCL9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234739 GT:AD:DP:GQ:PL 0/1:18,14:32:99:453,0,557
1 147096794 rs867270 A G 458.03 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.72;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BCL9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234739 GT:AD:DP:GQ:PL 1/1:0,14:14:39.12:491,39,0
1 147096828 rs946902 C G 311.31 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.13;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BCL9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234739 GT:AD:DP:GQ:PL 1/1:0,10:10:27.08:344,27,0
1 147119273 rs1344 G A 2711.23 PASS AC=2;AF=1.00;AN=2;DB;DP=77;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.21;SNPEFF_AMINO_ACID_CHANGE=H413;SNPEFF_CODON_CHANGE=caC/caT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_147119172_147119368;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ACP6;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000369238 GT:AD:DP:GQ:PL 1/1:0,77:77:99:2744,199,0
1 147121977 rs6593795 C T 2159.63 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.66;MQ0=0;QD=31.76;SNPEFF_AMINO_ACID_CHANGE=V316M;SNPEFF_CODON_CHANGE=Gtg/Atg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_147121946_147122041;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ACP6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000369238 GT:AD:DP:GQ:PL 1/1:0,68:68:99:2193,160,0
1 147124310 rs2153463 T G 838.58 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.23;MQ0=0;QD=27.95;SNPEFF_AMINO_ACID_CHANGE=R275;SNPEFF_CODON_CHANGE=Agg/Cgg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_147124252_147124352;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ACP6;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000369238 GT:AD:DP:GQ:PL 1/1:0,30:30:72.17:872,72,0
1 147131465 rs6674938 T C 816.97 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.52;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ACP6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369238 GT:AD:DP:GQ:PL 1/1:0,23:23:63.20:850,63,0
1 147131501 rs34675044 A T 413.67 PASS AB=0.559;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.324;DB;DP=34;Dels=0.0;FS=3.703;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.555;QD=12.17;ReadPosRankSum=-0.832;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ACP6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369238 GT:AD:DP:GQ:PL 0/1:19,15:34:99:444,0,596
1 147131945 rs2275552 T C 509.70 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.86;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ACP6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369238 GT:AD:DP:GQ:PL 1/1:0,16:16:39.13:543,39,0
1 147230217 rs1692141 T C 939.89 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9867;MQ=57.15;MQ0=0;QD=28.48;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GJA5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000430508 GT:AD:DP:GQ:PL 1/1:0,32:33:78.19:973,78,0
1 147231531 rs1692140 T C 117.06 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GJA5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271348 GT:AD:DP:GQ:PL 1/1:0,4:4:12.03:150,12,0
1 147381397 rs66529568 G GA 142.07 PASS AB=0.609;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.48;DB;DP=14;FS=0.0;HRun=13;HaplotypeScore=117.2961;IndelType=I;MQ=53.48;MQ0=0;MQRankSum=0.898;QD=10.15;ReadPosRankSum=-0.48;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GJA8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000240986 GT:AD:DP:GQ:PL 0/1:5,8:14:0.54:180,0,1
1 147381444 rs1532399 A C 126.74 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.35;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GJA8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000240986 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:159,12,0
1 147581468 rs145562679 C T 596.31 MQFilter40 AB=0.413;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.903;DB;DP=63;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9997;MQ=18.03;MQ0=6;MQRankSum=-0.29;QD=9.47;ReadPosRankSum=0.571;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF24;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401006 GT:AD:DP:GQ:PL 0/1:26,37:63:99:626,0,341
1 147595042 . T G 42.03 MQFilter40;QDFilter2 AC=2;AF=1.00;AN=2;DP=153;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=2.89;MQ0=149;QD=0.27;SNPEFF_AMINO_ACID_CHANGE=D104A;SNPEFF_CODON_CHANGE=gAt/gCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_147595012_147595084;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF24;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000369226 GT:AD:DP:GQ:PL 1/1:89,63:153:8.99:74,9,0
1 147595200 . C G 90.69 MQFilter40 AC=2;AF=1.00;AN=2;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=10.96;MQ0=11;QD=5.04;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NBPF24;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470042 GT:AD:DP:GQ:PL 1/1:2,16:18:14.98:123,15,0
1 147851865 rs139448148 G A 55.27 MQFilter40 AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=29.81;MQ0=0;MQRankSum=-1.38;QD=9.21;ReadPosRankSum=1.38;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RP11-495P10.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000381475 GT:AD:DP:GQ:PL 0/1:2,4:6:57.46:85,0,57
1 147851954 rs77558331 C T 58.27 MQFilter40 AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.727;DB;DP=5;Dels=0.0;FS=6.021;HRun=1;HaplotypeScore=0.0;MQ=31.19;MQ0=0;MQRankSum=-0.727;QD=11.65;ReadPosRankSum=-0.727;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RP11-495P10.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000381475 GT:AD:DP:GQ:PL 0/1:2,3:5:30.97:88,0,31
1 148004396 rs3961379 C A 81.39 MQFilter40 AB=0.718;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.9;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=25.48;MQ0=11;MQRankSum=-1.672;QD=2.09;ReadPosRankSum=-0.18;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000434489 GT:AD:DP:GQ:PL 0/1:28,11:39:99:111,0,471
1 148004402 rs3961380 G A 68.04 MQFilter40;QDFilter2 AB=0.756;AC=1;AF=0.50;AN=2;BaseQRankSum=0.275;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=26.06;MQ0=10;MQRankSum=-2.345;QD=1.66;ReadPosRankSum=-0.021;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000434489 GT:AD:DP:GQ:PL 0/1:31,10:41:98.03:98,0,541
1 148004407 . G C 31.60 MQFilter40;QDFilter2 AB=0.786;AC=1;AF=0.50;AN=2;BaseQRankSum=0.042;DP=42;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=26.89;MQ0=10;MQRankSum=-2.179;QD=0.75;ReadPosRankSum=0.754;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000434489 GT:AD:DP:GQ:PL 0/1:33,9:42:61.59:62,0,620
1 148004472 rs3961381 G A 99.23 MQFilter40;QDFilter2 AB=0.694;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.638;DB;DP=98;Dels=0.0;FS=4.746;HRun=0;HaplotypeScore=2.651;MQ=33.42;MQ0=16;MQRankSum=-4.682;QD=1.01;ReadPosRankSum=-0.528;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000434489 GT:AD:DP:GQ:PL 0/1:68,30:98:99:129,0,1873
1 148004475 . C G 139.25 MQFilter40;QDFilter2 AB=0.676;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.698;DP=105;Dels=0.0;FS=4.657;HRun=0;HaplotypeScore=3.4831;MQ=34.4;MQ0=16;MQRankSum=-5.924;QD=1.33;ReadPosRankSum=-0.294;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000434489 GT:AD:DP:GQ:PL 0/1:71,34:105:99:169,0,1990
1 148004732 rs77570381 A C 100.33 QDFilter2 AB=0.65;AC=1;AF=0.50;AN=2;BaseQRankSum=5.404;DB;DP=137;DS;Dels=0.0;FS=11.684;HRun=0;HaplotypeScore=1.9092;MQ=42.13;MQ0=16;MQRankSum=-7.713;QD=0.73;ReadPosRankSum=2.489;SNPEFF_AMINO_ACID_CHANGE=I209R;SNPEFF_CODON_CHANGE=aTa/aGa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_148004099_148004791;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF14;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000369368 GT:AD:DP:GQ:PL 0/1:89,48:137:99:130,0,2852
1 148004733 rs78149412 T C 2832.40 PASS AB=0.35;AC=1;AF=0.50;AN=2;BaseQRankSum=0.675;DB;DP=143;DS;Dels=0.0;FS=14.036;HRun=0;HaplotypeScore=2.4876;MQ=42.03;MQ0=16;MQRankSum=7.62;QD=19.81;ReadPosRankSum=-2.239;SNPEFF_AMINO_ACID_CHANGE=I209V;SNPEFF_CODON_CHANGE=Ata/Gta;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_148004099_148004791;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF14;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000369368 GT:AD:DP:GQ:PL 0/1:50,93:143:99:2862,0,168
1 148004866 rs75875945 T A 38.61 QDFilter2 AB=0.915;AC=1;AF=0.50;AN=2;BaseQRankSum=2.325;DB;DP=142;Dels=0.0;FS=4.609;HRun=2;HaplotypeScore=4.1773;MQ=42.41;MQ0=27;MQRankSum=-2.705;QD=0.27;ReadPosRankSum=-0.832;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000434489 GT:AD:DP:GQ:PL 0/1:130,12:142:68.60:69,0,2851
1 148004883 rs148664595 T A 587.58 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=1.94;DB;DP=137;Dels=0.0;FS=9.927;HRun=1;HaplotypeScore=0.734;MQ=40.93;MQ0=28;MQRankSum=-6.494;QD=4.29;ReadPosRankSum=3.574;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000434489 GT:AD:DP:GQ:PL 0/1:73,64:137:99:618,0,2083
1 148004890 . GA G 598.80 PASS AB=0.697;AC=1;AF=0.50;AN=2;BaseQRankSum=7.086;DP=85;FS=3.724;HRun=5;HaplotypeScore=499.4559;IndelType=D;MQ=40.21;MQ0=29;MQRankSum=-6.196;QD=4.57;ReadPosRankSum=2.989;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000434489 GT:AD:DP:GQ:PL 0/1:74,57:85:99:638,0,1999
1 148004927 . T A 596.75 MQFilter40 AB=0.434;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.118;DP=83;Dels=0.0;FS=6.047;HRun=10;HaplotypeScore=1.5774;MQ=39.52;MQ0=11;MQRankSum=-5.476;QD=7.19;ReadPosRankSum=-0.428;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000434489 GT:AD:DP:GQ:PL 0/1:36,47:83:99:627,0,1031
1 148004953 . C A 75.49 MQFilter40;QDFilter2 AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.221;DP=48;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=2.642;MQ=37.05;MQ0=6;MQRankSum=-2.794;QD=1.57;ReadPosRankSum=-2.364;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000434489 GT:AD:DP:GQ:PL 0/1:32,16:48:99:105,0,761
1 148008547 . C A 805.18 MQFilter40 AB=0.848;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.486;DP=225;Dels=0.0;FS=11.466;HRun=1;HaplotypeScore=1.2434;MQ=23.26;MQ0=1;MQRankSum=5.181;QD=3.56;ReadPosRankSum=1.43;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000434489 GT:AD:DP:GQ:PL 0/1:189,34:225:99:835,0,1681
1 148009353 . C G 201 MQFilter40;QDFilter2 AB=0.892;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.006;DP=250;DS;Dels=0.0;FS=2.945;HRun=0;HaplotypeScore=11.5505;MQ=19.68;MQ0=130;MQRankSum=0.077;QD=0.8;ReadPosRankSum=-1.393;SNPEFF_AMINO_ACID_CHANGE=D242H;SNPEFF_CODON_CHANGE=Gac/Cac;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_148009327_148009516;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF14;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000434489 GT:AD:DP:GQ:PL 0/1:222,27:250:99:231,0,2392
1 148009510 rs56160124 G A 2088.85 PASS AB=0.676;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.574;DB;DP=250;DS;Dels=0.0;FS=9.553;HRun=0;HaplotypeScore=3.389;MQ=52.87;MQ0=1;MQRankSum=0.812;QD=8.36;ReadPosRankSum=1.61;SNPEFF_AMINO_ACID_CHANGE=S189;SNPEFF_CODON_CHANGE=agC/agT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_148009327_148009516;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF14;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000434489 GT:AD:DP:GQ:PL 0/1:169,81:250:99:2119,0,5457
1 148009715 rs10624532 G GGA 227.94 PASS AB=0.759;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.754;DB;DP=34;FS=0.0;HRun=0;HaplotypeScore=103.9719;IndelType=I;MQ=47.24;MQ0=4;MQRankSum=-2.693;QD=5.56;ReadPosRankSum=-0.635;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369219 GT:AD:DP:GQ:PL 0/1:27,13:34:99:267,0,537
1 148010217 . A G 104.71 MQFilter40;QDFilter2 AB=0.944;AC=1;AF=0.50;AN=2;BaseQRankSum=0.898;DP=250;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=8.13;MQ0=216;MQRankSum=0.625;QD=0.42;ReadPosRankSum=-0.468;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369219 GT:AD:DP:GQ:PL 0/1:236,14:250:99:135,0,383
1 148011191 . T C 49.78 HaplotypeScoreFilter13;MQFilter40;QDFilter2 AB=0.935;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.159;DP=108;Dels=0.0;FS=2.5;HRun=0;HaplotypeScore=14.9079;MQ=19.85;MQ0=6;MQRankSum=1.866;QD=0.46;ReadPosRankSum=-1.84;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369219 GT:AD:DP:GQ:PL 0/1:101,7:108:79.78:80,0,833
1 148011262 . C G 402.30 MQFilter40 AB=0.452;AC=1;AF=0.50;AN=2;BaseQRankSum=1.09;DP=42;Dels=0.0;FS=1.779;HRun=0;HaplotypeScore=0.0;MQ=33.71;MQ0=3;MQRankSum=-0.581;QD=9.58;ReadPosRankSum=-0.184;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369219 GT:AD:DP:GQ:PL 0/1:19,23:42:99:432,0,431
1 148012872 . GAC G 220.35 PASS AB=0.778;AC=1;AF=0.50;AN=2;BaseQRankSum=0.133;DP=18;FS=4.359;HRun=0;HaplotypeScore=106.4009;IndelType=D;MQ=27.17;MQ0=10;MQRankSum=-3.421;QD=7.87;ReadPosRankSum=-1.644;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369219 GT:AD:DP:GQ:PL 0/1:20,8:18:99:259,0,210
1 148017256 rs4067359 G A 32.97 MQFilter40 AC=2;AF=1.00;AN=2;BaseQRankSum=-0.736;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=8.83;MQ0=7;MQRankSum=0.736;QD=2.54;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369219 GT:AD:DP:GQ:PL 1/1:7,6:13:8.94:65,9,0
1 148023403 . G A 171.66 MQFilter40 AB=0.676;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.228;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=13.83;MQ0=16;MQRankSum=1.064;QD=4.64;ReadPosRankSum=-1.292;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369219 GT:AD:DP:GQ:PL 0/1:25,12:37:99:202,0,127
1 148023489 rs150361541 C T 74.26 MQFilter40;QDFilter2 AB=0.857;AC=1;AF=0.50;AN=2;BaseQRankSum=0.745;DB;DP=119;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=9.37;MQ0=88;MQRankSum=0.339;QD=0.62;ReadPosRankSum=-0.068;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369219 GT:AD:DP:GQ:PL 0/1:102,17:119:99:104,0,334
1 148023494 rs75500016 G A 55.56 MQFilter40;QDFilter2 AB=0.876;AC=1;AF=0.50;AN=2;BaseQRankSum=3.185;DB;DP=129;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=8.65;MQ0=100;MQRankSum=-0.28;QD=0.43;ReadPosRankSum=0.79;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369219 GT:AD:DP:GQ:PL 0/1:113,16:129:85.56:86,0,315
1 148023502 . GT G 107.94 QDFilter2 AB=0.907;AC=1;AF=0.50;AN=2;BaseQRankSum=3.377;DP=20;FS=0.0;HRun=5;HaplotypeScore=154.3171;IndelType=D;MQ=7.64;MQ0=120;MQRankSum=-1.535;QD=0.74;ReadPosRankSum=0.745;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369219 GT:AD:DP:GQ:PL 0/1:131,15:20:99:147,0,472
1 148023509 rs140737308 G A 235.58 MQFilter40;QDFilter2 AB=0.783;AC=1;AF=0.50;AN=2;BaseQRankSum=1.122;DB;DP=166;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=5.799;MQ=7.05;MQ0=140;MQRankSum=1.177;QD=1.42;ReadPosRankSum=1.943;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369219 GT:AD:DP:GQ:PL 0/1:130,36:166:62.62:266,0,63
1 148025606 rs78327296 C T 524.15 MQFilter40 AB=0.32;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.202;DB;DP=51;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.7887;MQ=29.25;MQ0=5;MQRankSum=-5.276;QD=10.28;ReadPosRankSum=2.217;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369219 GT:AD:DP:GQ:PL 0/1:16,34:51:99:554,0,457
1 148252164 rs61812475 A C 411.04 QDFilter2 AB=0.712;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.209;DB;DP=227;DS;Dels=0.0;FS=6.815;HRun=0;HaplotypeScore=6.3501;MQ=44.39;MQ0=11;MQRankSum=-10.089;QD=1.81;ReadPosRankSum=2.293;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF20;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000457491 GT:AD:DP:GQ:PL 0/1:161,65:227:99:441,0,5011
1 148343477 rs61809885 C T 309.80 MQFilter40 AB=0.716;AC=1;AF=0.50;AN=2;BaseQRankSum=1.687;DB;DP=74;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=5.7657;MQ=20.14;MQ0=30;MQRankSum=1.061;QD=4.19;ReadPosRankSum=-0.386;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF20;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369188 GT:AD:DP:GQ:PL 0/1:53,21:74:99:340,0,429
1 148344491 . T A 124.71 MQFilter40;QDFilter2 AB=0.836;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.879;DP=110;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=22.56;MQ0=20;MQRankSum=1.786;QD=1.13;ReadPosRankSum=-1.82;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF20;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369188 GT:AD:DP:GQ:PL 0/1:92,18:110:99:155,0,1141
1 148344521 rs1880501 C T 416.03 HaplotypeScoreFilter13;MQFilter40 AB=0.803;AC=1;AF=0.50;AN=2;BaseQRankSum=-6.039;DB;DP=188;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=13.5553;MQ=25.05;MQ0=25;MQRankSum=1.655;QD=2.21;ReadPosRankSum=0.486;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF20;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369188 GT:AD:DP:GQ:PL 0/1:151,37:188:99:446,0,2113
1 148344615 . G GC 174.41 QDFilter2 AB=0.926;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.565;DP=188;DS;FS=15.073;HRun=2;HaplotypeScore=989.3429;IndelType=I;MQ=29.27;MQ0=36;MQRankSum=-0.328;QD=0.7;ReadPosRankSum=-0.462;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF20;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369188 GT:AD:DP:GQ:PL 0/1:230,20:188:99:213,0,5177
1 148344624 rs75650621 T C 1866.46 HaplotypeScoreFilter13;MQFilter40 AB=0.376;AC=1;AF=0.50;AN=2;BaseQRankSum=0.617;DB;DP=246;DS;Dels=0.0;FS=2.258;HRun=5;HaplotypeScore=49.8514;MQ=27.19;MQ0=43;MQRankSum=-4.945;QD=7.59;ReadPosRankSum=3.072;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF20;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369188 GT:AD:DP:GQ:PL 0/1:79,131:246:99:1896,0,1578
1 148344741 rs61809891 G C 410.91 MQFilter40;QDFilter2 AB=0.54;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.856;DB;DP=214;DS;Dels=0.0;FS=30.614;HRun=0;HaplotypeScore=2.7114;MQ=27.95;MQ0=31;MQRankSum=-7.368;QD=1.92;ReadPosRankSum=0.469;SNPEFF_AMINO_ACID_CHANGE=N59K;SNPEFF_CODON_CHANGE=aaC/aaG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_148344640_148344742;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF20;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000369188 GT:AD:DP:GQ:PL 0/1:115,98:214:99:441,0,3108
1 148349431 rs67020224 T TG 244.44 PASS AB=0.868;AC=1;AF=0.50;AN=2;BaseQRankSum=0.061;DB;DP=45;FS=2.694;HRun=6;HaplotypeScore=148.2919;IndelType=I;MQ=18.48;MQ0=59;MQRankSum=-0.242;QD=2.07;ReadPosRankSum=1.09;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF20;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369188 GT:AD:DP:GQ:PL 0/1:100,18:45:99:283,0,767
1 148349499 . C T 121.01 MQFilter40;QDFilter2 AB=0.872;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.096;DP=86;Dels=0.0;FS=16.528;HRun=2;HaplotypeScore=0.0;MQ=17.29;MQ0=49;MQRankSum=0.402;QD=1.41;ReadPosRankSum=-0.11;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF20;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369188 GT:AD:DP:GQ:PL 0/1:75,11:86:99:151,0,628
1 148644408 . A G 35.74 MQFilter40;QDFilter2 AB=0.592;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.438;DP=169;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=12.51;MQ0=73;MQRankSum=-1.682;QD=0.21;ReadPosRankSum=1.188;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP11-666A1.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427485 GT:AD:DP:GQ:PL 0/1:100,69:169:65.73:66,0,204
1 148751468 . C G 57.30 MQFilter40 AC=2;AF=1.00;AN=2;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=23.38;MQ0=1;QD=14.33;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF16;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000254372 GT:AD:DP:GQ:PL 1/1:1,3:4:8.99:89,9,0
1 148754569 . A G 41.60 MQFilter40 AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.62;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=21.46;MQ0=0;MQRankSum=1.312;QD=2.97;ReadPosRankSum=0.849;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF16;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000254372 GT:AD:DP:GQ:PL 0/1:9,5:14:68.73:72,0,69
1 148754588 rs144242942 C G 32.33 MQFilter40 AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.3;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.4964;MQ=20.22;MQ0=5;MQRankSum=1.754;QD=2.69;ReadPosRankSum=1.754;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF16;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000254372 GT:AD:DP:GQ:PL 0/1:6,6:12:13.67:62,0,14
1 148756363 . A G 212.10 MQFilter40 AC=2;AF=1.00;AN=2;DP=75;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=10.13;MQ0=44;QD=2.83;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF16;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000254372 GT:AD:DP:GQ:PL 1/1:13,61:75:26.96:245,27,0
1 148756365 . T G 92.48 MQFilter40;QDFilter2 AB=0.818;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.825;DP=77;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=10.31;MQ0=45;MQRankSum=2.145;QD=1.2;ReadPosRankSum=0.354;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF16;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000254372 GT:AD:DP:GQ:PL 0/1:63,14:77:99:122,0,101
1 148756384 . G A 57.77 MQFilter40;QDFilter2 AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.876;DP=118;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=10.96;MQ0=75;MQRankSum=-2.863;QD=0.49;ReadPosRankSum=2.235;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF16;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000254372 GT:AD:DP:GQ:PL 0/1:75,43:118:87.77:88,0,395
1 148756397 . C T 259.90 MQFilter40;QDFilter2 AB=0.65;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.592;DP=160;Dels=0.0;FS=10.0;HRun=1;HaplotypeScore=0.7887;MQ=11.61;MQ0=101;MQRankSum=-2.307;QD=1.61;ReadPosRankSum=-0.078;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF16;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000254372 GT:AD:DP:GQ:PL 0/1:104,56:160:99:290,0,456
1 148756432 rs141389420 C A 533.24 MQFilter40 AB=0.642;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.977;DB;DP=229;Dels=0.0;FS=9.102;HRun=0;HaplotypeScore=0.9983;MQ=13.54;MQ0=129;MQRankSum=-3.09;QD=2.33;ReadPosRankSum=0.437;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF16;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000254372 GT:AD:DP:GQ:PL 0/1:147,82:229:99:563,0,802
1 148756448 . G A 825.49 MQFilter40 AB=0.498;AC=1;AF=0.50;AN=2;BaseQRankSum=1.869;DP=231;Dels=0.0;FS=4.519;HRun=0;HaplotypeScore=1.9966;MQ=13.73;MQ0=127;MQRankSum=3.412;QD=3.57;ReadPosRankSum=-3.015;SNPEFF_AMINO_ACID_CHANGE=G593S;SNPEFF_CODON_CHANGE=Ggc/Agc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_148756441_148758311;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF16;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000254372 GT:AD:DP:GQ:PL 0/1:115,116:231:99:855,0,571
1 148756499 . A G 1741.44 MQFilter40 AB=0.424;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.705;DP=210;Dels=0.0;FS=4.175;HRun=1;HaplotypeScore=1.4679;MQ=19.95;MQ0=90;MQRankSum=5.434;QD=8.29;ReadPosRankSum=1.075;SNPEFF_AMINO_ACID_CHANGE=R610G;SNPEFF_CODON_CHANGE=Aga/Gga;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_148756441_148758311;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF16;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000254372 GT:AD:DP:GQ:PL 0/1:89,121:210:99:1771,0,145
1 148756607 . G T 866.56 MQFilter40 AC=2;AF=1.00;AN=2;DP=156;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=12.75;MQ0=102;QD=5.55;SNPEFF_AMINO_ACID_CHANGE=V646L;SNPEFF_CODON_CHANGE=Gtg/Ttg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_148756441_148758311;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF16;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000254372 GT:AD:DP:GQ:PL 1/1:62,94:156:96.03:900,96,0
1 148756648 . C T 445.33 MQFilter40 AC=2;AF=1.00;AN=2;DP=147;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=10.33;MQ0=118;QD=3.03;SNPEFF_AMINO_ACID_CHANGE=H659;SNPEFF_CODON_CHANGE=caC/caT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_148756441_148758311;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF16;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000254372 GT:AD:DP:GQ:PL 1/1:104,43:147:45.09:478,45,0
1 148756664 . G T 182.37 MQFilter40;QDFilter2 AC=2;AF=1.00;AN=2;DP=140;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=8.12;MQ0=123;QD=1.3;SNPEFF_AMINO_ACID_CHANGE=G665*;SNPEFF_CODON_CHANGE=Gga/Tga;SNPEFF_EFFECT=STOP_GAINED;SNPEFF_EXON_ID=exon_1_148756441_148758311;SNPEFF_FUNCTIONAL_CLASS=NONSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF16;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000254372 GT:AD:DP:GQ:PL 1/1:113,27:140:24.01:215,24,0
1 148756665 . G T 182.37 MQFilter40;QDFilter2 AC=2;AF=1.00;AN=2;DP=140;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=8.12;MQ0=123;QD=1.3;SNPEFF_AMINO_ACID_CHANGE=G665V;SNPEFF_CODON_CHANGE=gGa/gTa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_148756441_148758311;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF16;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000254372 GT:AD:DP:GQ:PL 1/1:113,27:140:24.01:215,24,0
1 148756684 . A G 167.73 MQFilter40;QDFilter2 AC=2;AF=1.00;AN=2;DP=134;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=7.45;MQ0=119;QD=1.25;SNPEFF_AMINO_ACID_CHANGE=*671;SNPEFF_CODON_CHANGE=taA/taG;SNPEFF_EFFECT=SYNONYMOUS_STOP;SNPEFF_EXON_ID=exon_1_148756441_148758311;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF16;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000254372 GT:AD:DP:GQ:PL 1/1:111,23:134:18.05:201,18,0
1 148756690 . T C 167.73 MQFilter40;QDFilter2 AC=2;AF=1.00;AN=2;DP=131;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=6.77;MQ0=120;QD=1.28;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBPF16;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000254372 GT:AD:DP:GQ:PL 1/1:105,26:131:18.05:201,18,0
1 148873483 . C T 196.54 MQFilter40;QDFilter2 AB=0.846;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.947;DP=247;DS;Dels=0.0;FS=3.084;HRun=0;HaplotypeScore=0.5784;MQ=21.48;MQ0=88;MQRankSum=-1.101;QD=0.8;ReadPosRankSum=2.309;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP11-763B22.9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000444424 GT:AD:DP:GQ:PL 0/1:209,38:247:99:227,0,2784
1 148873574 rs74545317 G T 367.38 HaplotypeScoreFilter13;MQFilter40 AB=0.81;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.663;DB;DP=147;DS;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=17.3302;MQ=29.4;MQ0=32;MQRankSum=0.506;QD=2.5;ReadPosRankSum=0.182;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP11-763B22.9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000444424 GT:AD:DP:GQ:PL 0/1:119,28:147:99:397,0,2157
1 148876400 rs421825 G A 123.52 MQFilter40;QDFilter2 AB=0.897;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.66;DB;DP=225;Dels=0.0;FS=1.505;HRun=0;HaplotypeScore=0.9578;MQ=17.8;MQ0=149;MQRankSum=0.441;QD=0.55;ReadPosRankSum=-1.576;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP11-763B22.9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000444424 GT:AD:DP:GQ:PL 0/1:201,23:225:99:154,0,1465
1 148876411 rs446702 G T 252.88 MQFilter40;QDFilter2 AB=0.891;AC=1;AF=0.50;AN=2;BaseQRankSum=1.78;DB;DP=238;Dels=0.0;FS=7.852;HRun=0;HaplotypeScore=0.0;MQ=20.04;MQ0=148;MQRankSum=1.218;QD=1.06;ReadPosRankSum=-2.488;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP11-763B22.9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000444424 GT:AD:DP:GQ:PL 0/1:212,26:238:99:283,0,1595
1 148876536 rs57112850 CTT C 81.76 PASS AB=0.789;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.556;DB;DP=24;FS=0.0;HRun=17;HaplotypeScore=132.3621;IndelType=D;MQ=32.71;MQ0=5;MQRankSum=-1.324;QD=2.73;ReadPosRankSum=1.791;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP11-763B22.9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000444424 GT:AD:DP:GQ:PL 0/1:21,6:24:99:121,0,212
1 148882326 . C A 333.71 MQFilter40;QDFilter2 AB=0.82;AC=1;AF=0.50;AN=2;BaseQRankSum=-6.241;DP=239;Dels=0.0;FS=0.897;HRun=0;HaplotypeScore=1.6671;MQ=17.36;MQ0=90;MQRankSum=1.061;QD=1.4;ReadPosRankSum=-1.07;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP11-763B22.9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000444424 GT:AD:DP:GQ:PL 0/1:196,43:239:99:364,0,1559
1 148888276 rs71270655 CA C 185.26 PASS AB=0.737;AC=1;AF=0.50;AN=2;BaseQRankSum=1.277;DB;DP=34;FS=5.452;HRun=13;HaplotypeScore=151.8082;IndelType=D;MQ=38.45;MQ0=8;MQRankSum=-1.741;QD=4.41;ReadPosRankSum=0.627;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP11-763B22.9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000444424 GT:AD:DP:GQ:PL 0/1:27,12:34:99:224,0,222
1 148888289 . A T 38.34 QDFilter2 AB=0.886;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.401;DP=36;Dels=0.0;FS=3.772;HRun=0;HaplotypeScore=3.9325;MQ=41.63;MQ0=1;MQRankSum=1.203;QD=1.06;ReadPosRankSum=0.401;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP11-763B22.9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000444424 GT:AD:DP:GQ:PL 0/1:31,4:36:68.33:68,0,394
1 148889551 rs145638823 TAA T 188.65 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.656;DB;DP=13;FS=0.0;HRun=7;HaplotypeScore=59.6012;IndelType=D;MQ=42.64;MQ0=0;MQRankSum=0.312;QD=13.48;ReadPosRankSum=0.811;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP11-763B22.9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000444424 GT:AD:DP:GQ:PL 0/1:7,7:13:99:228,0,250
1 148889699 rs10157381 A G 185.03 MQFilter40 AB=0.581;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.094;DB;DP=31;Dels=0.0;FS=4.682;HRun=0;HaplotypeScore=0.0;MQ=32.58;MQ0=1;MQRankSum=-0.047;QD=5.97;ReadPosRankSum=0.188;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP11-763B22.9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000444424 GT:AD:DP:GQ:PL 0/1:18,13:31:99:215,0,450
1 148890173 rs170528 A C 2638.26 HaplotypeScoreFilter13;MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=102;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=25.5328;MQ=38.34;MQ0=17;QD=25.87;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP11-763B22.9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000444424 GT:AD:DP:GQ:PL 1/1:0,102:102:99:2671,220,0
1 148890177 . AT A 354.79 PASS AB=0.783;AC=1;AF=0.50;AN=2;BaseQRankSum=2.855;DP=88;FS=3.11;HRun=11;HaplotypeScore=573.0147;IndelType=D;MQ=39.53;MQ0=15;MQRankSum=-2.078;QD=3.29;ReadPosRankSum=-2.008;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP11-763B22.9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000444424 GT:AD:DP:GQ:PL 0/1:68,30:88:99:394,0,1526
1 148890273 . A G 305.12 MQFilter40;QDFilter2 AB=0.733;AC=1;AF=0.50;AN=2;BaseQRankSum=4.616;DP=191;Dels=0.0;FS=11.969;HRun=1;HaplotypeScore=1.2434;MQ=29.12;MQ0=43;MQRankSum=-0.018;QD=1.6;ReadPosRankSum=-1.76;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP11-763B22.9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000444424 GT:AD:DP:GQ:PL 0/1:140,51:191:99:335,0,2754
1 148891675 rs148986249 A G 366.41 MQFilter40 AB=0.446;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.533;DB;DP=101;Dels=0.0;FS=3.626;HRun=0;HaplotypeScore=4.3458;MQ=31.0;MQ0=5;MQRankSum=-6.835;QD=3.63;ReadPosRankSum=1.41;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP11-763B22.9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000444424 GT:AD:DP:GQ:PL 0/1:45,56:101:99:396,0,1351
1 148891790 rs151025 T A 87.19 MQFilter40 AB=0.813;AC=1;AF=0.50;AN=2;BaseQRankSum=0.942;DB;DP=32;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=28.75;MQ0=3;MQRankSum=1.211;QD=2.72;ReadPosRankSum=0.296;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP11-763B22.9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000444424 GT:AD:DP:GQ:PL 0/1:26,6:32:99:117,0,362
1 148902483 rs55993601 G A 653.41 MQFilter40 AB=0.233;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.249;DB;DP=43;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9867;MQ=32.25;MQ0=5;MQRankSum=-3.166;QD=15.2;ReadPosRankSum=-0.017;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP11-14N7.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309892 GT:AD:DP:GQ:PL 0/1:10,33:43:99:683,0,275
1 148902522 rs77238322 G A 254.23 MQFilter40 AB=0.698;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.683;DB;DP=63;Dels=0.0;FS=4.629;HRun=0;HaplotypeScore=0.0;MQ=34.35;MQ0=0;MQRankSum=-0.706;QD=4.04;ReadPosRankSum=-0.318;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP11-14N7.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309892 GT:AD:DP:GQ:PL 0/1:44,19:63:99:284,0,1211
1 148902590 . A G 143.63 MQFilter40;QDFilter2 AB=0.716;AC=1;AF=0.50;AN=2;BaseQRankSum=1.763;DP=74;Dels=0.0;FS=1.354;HRun=0;HaplotypeScore=0.734;MQ=23.97;MQ0=26;MQRankSum=-0.534;QD=1.94;ReadPosRankSum=-1.972;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP11-14N7.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309892 GT:AD:DP:GQ:PL 0/1:53,21:74:99:174,0,839
1 148902591 . C G 154.12 MQFilter40 AB=0.743;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.5;DP=75;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=23.92;MQ0=26;MQRankSum=-0.198;QD=2.05;ReadPosRankSum=-1.151;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP11-14N7.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309892 GT:AD:DP:GQ:PL 0/1:55,19:75:99:184,0,921
1 148902833 . C G 66.39 MQFilter40;QDFilter2 AB=0.66;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.396;DP=53;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=12.13;MQ0=31;MQRankSum=0.099;QD=1.25;ReadPosRankSum=0.231;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP11-14N7.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309892 GT:AD:DP:GQ:PL 0/1:35,18:53:96.38:96,0,127
1 148902979 rs151092652 C T 1043.60 MQFilter40 AB=0.657;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.48;DB;DP=198;Dels=0.0;FS=10.747;HRun=0;HaplotypeScore=3.5124;MQ=27.77;MQ0=33;MQRankSum=-0.681;QD=5.27;ReadPosRankSum=-0.38;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP11-14N7.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309892 GT:AD:DP:GQ:PL 0/1:130,68:198:99:1074,0,2286
1 148903000 . T C 77.39 MQFilter40;QDFilter2 AB=0.893;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.209;DP=224;Dels=0.0;FS=4.69;HRun=0;HaplotypeScore=1.86;MQ=30.58;MQ0=19;MQRankSum=-0.002;QD=0.35;ReadPosRankSum=0.518;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP11-14N7.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309892 GT:AD:DP:GQ:PL 0/1:200,24:224:99:107,0,4145
1 148903047 rs145813307 G A 1291.81 MQFilter40 AB=0.662;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.261;DB;DP=216;Dels=0.0;FS=10.315;HRun=1;HaplotypeScore=4.1787;MQ=33.19;MQ0=6;MQRankSum=-0.163;QD=5.98;ReadPosRankSum=0.522;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP11-14N7.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309892 GT:AD:DP:GQ:PL 0/1:143,73:216:99:1322,0,3244
1 148903507 rs142037290 A G 720.14 MQFilter40 AB=0.507;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.095;DB;DP=138;Dels=0.0;FS=18.567;HRun=1;HaplotypeScore=1.9941;MQ=36.54;MQ0=34;MQRankSum=-5.621;QD=5.22;ReadPosRankSum=-1.055;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP11-14N7.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309892 GT:AD:DP:GQ:PL 0/1:70,68:138:99:750,0,2198
1 148903547 rs76622879 C T 267.88 MQFilter40;QDFilter2 AB=0.838;AC=1;AF=0.50;AN=2;BaseQRankSum=1.18;DB;DP=216;Dels=0.0;FS=5.061;HRun=0;HaplotypeScore=1.6809;MQ=37.66;MQ0=18;MQRankSum=-3.223;QD=1.24;ReadPosRankSum=0.024;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP11-14N7.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309892 GT:AD:DP:GQ:PL 0/1:181,35:216:99:298,0,4652
1 148903577 rs79177226 A G 309.12 MQFilter40;QDFilter2 AB=0.823;AC=1;AF=0.50;AN=2;BaseQRankSum=3.5;DB;DP=249;DS;Dels=0.0;FS=9.086;HRun=0;HaplotypeScore=5.2382;MQ=39.93;MQ0=16;MQRankSum=-4.804;QD=1.24;ReadPosRankSum=1.904;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP11-14N7.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309892 GT:AD:DP:GQ:PL 0/1:205,44:249:99:339,0,5257
1 148903616 rs77931718 G A 61.90 QDFilter2 AB=0.821;AC=1;AF=0.50;AN=2;BaseQRankSum=1.003;DB;DP=224;DS;Dels=0.0;FS=4.955;HRun=0;HaplotypeScore=3.3572;MQ=41.98;MQ0=12;MQRankSum=-4.486;QD=0.28;ReadPosRankSum=-1.756;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP11-14N7.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309892 GT:AD:DP:GQ:PL 0/1:184,40:224:91.90:92,0,4644
1 148903617 rs80113955 G A 76.73 QDFilter2 AB=0.825;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.787;DB;DP=217;DS;Dels=0.0;FS=4.991;HRun=0;HaplotypeScore=3.3572;MQ=42.31;MQ0=12;MQRankSum=-4.394;QD=0.35;ReadPosRankSum=-1.519;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP11-14N7.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309892 GT:AD:DP:GQ:PL 0/1:179,38:217:99:107,0,4749
1 148903639 rs74758496 A G 290.23 QDFilter2 AB=0.634;AC=1;AF=0.50;AN=2;BaseQRankSum=1.985;DB;DP=164;DS;Dels=0.0;FS=1.885;HRun=1;HaplotypeScore=3.5673;MQ=44.79;MQ0=22;MQRankSum=-7.853;QD=1.77;ReadPosRankSum=0.958;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP11-14N7.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309892 GT:AD:DP:GQ:PL 0/1:104,60:164:99:320,0,3314
1 148903758 rs61786300 A G 325.64 MQFilter40 AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=2.501;DB;DP=100;Dels=0.0;FS=2.61;HRun=0;HaplotypeScore=0.9983;MQ=35.79;MQ0=12;MQRankSum=-1.701;QD=3.26;ReadPosRankSum=-0.544;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP11-14N7.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309892 GT:AD:DP:GQ:PL 0/1:75,25:100:99:356,0,1560
1 148903864 . G C 51.71 MQFilter40 AB=0.692;AC=1;AF=0.50;AN=2;BaseQRankSum=0.278;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=19.42;MQ0=2;MQRankSum=0.896;QD=3.98;ReadPosRankSum=0.278;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP11-14N7.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309892 GT:AD:DP:GQ:PL 0/1:9,4:13:65.78:82,0,66
1 148932848 rs13653 A G 395.17 PASS AB=0.73;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.491;DB;DP=180;DS;Dels=0.0;FS=5.711;HRun=0;HaplotypeScore=12.8262;MQ=45.94;MQ0=13;MQRankSum=-7.083;QD=2.2;ReadPosRankSum=1.659;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=RP11-14N7.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294715 GT:AD:DP:GQ:PL 0/1:130,48:180:99:425,0,4116
1 148932965 . T C 84.35 QDFilter2 AB=0.753;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.839;DP=77;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=7.301;MQ=49.69;MQ0=3;MQRankSum=-5.283;QD=1.1;ReadPosRankSum=-0.374;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=RP11-14N7.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420597 GT:AD:DP:GQ:PL 0/1:58,19:77:99:114,0,1870
1 148933287 rs2659307 G C 606.69 MQFilter40 AB=0.473;AC=1;AF=0.50;AN=2;BaseQRankSum=2.498;DB;DP=55;Dels=0.0;FS=27.699;HRun=3;HaplotypeScore=0.0;MQ=34.35;MQ0=3;MQRankSum=-2.535;QD=11.03;ReadPosRankSum=-0.503;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=RP11-14N7.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420597 GT:AD:DP:GQ:PL 0/1:26,29:55:99:637,0,584
1 148942545 . T C 137.73 MQFilter40;QDFilter2 AB=0.78;AC=1;AF=0.50;AN=2;BaseQRankSum=3.372;DP=109;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=14.79;MQ0=82;MQRankSum=-0.558;QD=1.26;ReadPosRankSum=-0.823;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=RP11-14N7.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000452399 GT:AD:DP:GQ:PL 0/1:85,24:109:99:168,0,518
1 148951075 rs228171 C T 100.37 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.831;DB;DP=12;Dels=0.0;FS=3.424;HRun=0;HaplotypeScore=0.0;MQ=42.51;MQ0=0;MQRankSum=0.244;QD=8.36;ReadPosRankSum=-0.38;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=RP11-14N7.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000452399 GT:AD:DP:GQ:PL 0/1:7,5:12:99:130,0,159
1 148951166 rs228170 A C 552.38 PASS AB=0.614;AC=1;AF=0.50;AN=2;BaseQRankSum=4.266;DB;DP=44;Dels=0.0;FS=3.716;HRun=0;HaplotypeScore=0.0;MQ=47.95;MQ0=0;MQRankSum=2.338;QD=12.55;ReadPosRankSum=-0.964;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=RP11-14N7.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000452399 GT:AD:DP:GQ:PL 0/1:27,17:44:99:582,0,779
1 148951207 rs228169 G C 1007.12 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.455;DB;DP=78;Dels=0.0;FS=2.562;HRun=0;HaplotypeScore=0.0;MQ=47.61;MQ0=1;MQRankSum=0.883;QD=12.91;ReadPosRankSum=1.363;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=RP11-14N7.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000452399 GT:AD:DP:GQ:PL 0/1:42,36:78:99:1037,0,1389
1 149065488 rs5006229 C A 53.01 PASS AB=0.727;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.05;DB;DP=22;Dels=0.0;FS=5.035;HRun=1;HaplotypeScore=0.0;MQ=53.8;MQ0=2;MQRankSum=-3.05;QD=2.41;ReadPosRankSum=-1.75;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP11-744H18.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000449715 GT:AD:DP:GQ:PL 0/1:16,6:22:83:83,0,560
1 149065494 rs5006230 C T 37.60 QDFilter2 AB=0.762;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.237;DB;DP=21;Dels=0.0;FS=5.035;HRun=0;HaplotypeScore=0.0;MQ=54.93;MQ0=2;MQRankSum=-2.725;QD=1.79;ReadPosRankSum=0.355;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP11-744H18.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000449715 GT:AD:DP:GQ:PL 0/1:16,5:21:67.59:68,0,564
1 149065953 rs1849364 C T 40.95 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=4.771;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=13.65;ReadPosRankSum=-0.736;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP11-744H18.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000449715 GT:AD:DP:GQ:PL 0/1:1,2:3:22.52:71,0,23
1 149290301 rs58203606 T C 126.05 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=40.7;MQ0=2;QD=21.01;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RP11-403I13.7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000424684 GT:AD:DP:GQ:PL 1/1:0,6:6:12.04:159,12,0
1 149290370 rs11485742 G A 143.28 MQFilter40 AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.779;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9995;MQ=37.43;MQ0=0;MQRankSum=0.869;QD=11.94;ReadPosRankSum=-1.517;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RP11-403I13.7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000424684 GT:AD:DP:GQ:PL 0/1:6,6:12:99:173,0,131
1 149290383 rs11485743 G T 109.66 MQFilter40 AB=0.588;AC=1;AF=0.50;AN=2;BaseQRankSum=2.652;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9995;MQ=32.84;MQ0=1;MQRankSum=0.648;QD=6.45;ReadPosRankSum=-0.884;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RP11-403I13.7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000424684 GT:AD:DP:GQ:PL 0/1:10,7:17:99:140,0,135
1 149576385 . G A 39.24 MQFilter40 AC=2;AF=1.00;AN=2;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=29.91;MQ0=1;QD=9.81;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=RP11-277L2.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000447883 GT:AD:DP:GQ:PL 1/1:1,3:4:6.02:70,6,0
1 149576390 . C A 115.21 MQFilter40 AC=2;AF=1.00;AN=2;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=32.45;MQ0=1;QD=19.2;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=RP11-277L2.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000447883 GT:AD:DP:GQ:PL 1/1:1,5:6:12.04:148,12,0
1 149576483 . G A 35.44 MQFilter40 AC=2;AF=1.00;AN=2;BaseQRankSum=0.727;DP=17;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.9159;MQ=18.18;MQ0=12;MQRankSum=0.727;QD=2.08;ReadPosRankSum=0.727;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=RP11-277L2.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000447883 GT:AD:DP:GQ:PL 1/1:10,7:17:6.01:67,6,0
1 149676075 rs139224032 G A 35.63 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=14.5;MQ0=6;QD=4.45;SNPEFF_AMINO_ACID_CHANGE=G2;SNPEFF_CODON_CHANGE=ggG/ggA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_149675978_149676609;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AL358813.2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000369173 GT:AD:DP:GQ:PL 1/1:0,7:8:6.02:67,6,0
1 149676264 . T C 229.14 PASS AB=0.724;AC=1;AF=0.50;AN=2;BaseQRankSum=2.299;DP=87;Dels=0.0;FS=7.724;HRun=0;HaplotypeScore=1.6281;MQ=40.19;MQ0=6;MQRankSum=-3.67;QD=2.63;ReadPosRankSum=-1.826;SNPEFF_AMINO_ACID_CHANGE=S65;SNPEFF_CODON_CHANGE=agT/agC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_149675978_149676609;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AL358813.2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000369173 GT:AD:DP:GQ:PL 0/1:63,24:87:99:259,0,1777
1 149676401 rs146138154 A G 420.10 MQFilter40 AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.135;DB;DP=64;Dels=0.0;FS=23.306;HRun=1;HaplotypeScore=1.9367;MQ=33.6;MQ0=9;MQRankSum=-1.03;QD=6.56;ReadPosRankSum=-2.139;SNPEFF_AMINO_ACID_CHANGE=Q111R;SNPEFF_CODON_CHANGE=cAg/cGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_149675978_149676609;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AL358813.2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000369173 GT:AD:DP:GQ:PL 0/1:32,32:64:99:450,0,856
1 149676508 rs142083788 A T 34.67 MQFilter40;QDFilter2 AB=0.895;AC=1;AF=0.50;AN=2;BaseQRankSum=2.101;DB;DP=86;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=11.5;MQ0=64;MQRankSum=-0.7;QD=0.4;ReadPosRankSum=1.438;SNPEFF_AMINO_ACID_CHANGE=T147S;SNPEFF_CODON_CHANGE=Acc/Tcc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_149675978_149676609;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AL358813.2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000369173 GT:AD:DP:GQ:PL 0/1:77,9:86:64.66:65,0,251
1 149885583 rs577935 A G 71.43 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.638;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.922;QD=8.93;ReadPosRankSum=-1.638;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_1_149884771_149885739;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SV2A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000369145 GT:AD:DP:GQ:PL 0/1:4,4:8:99:101,0,146
1 149906413 rs11205303 T C 442.15 PASS AB=0.575;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.034;DB;DP=40;Dels=0.0;FS=9.689;HRun=0;HaplotypeScore=0.9967;MQ=60.0;MQ0=0;MQRankSum=-0.465;QD=11.05;ReadPosRankSum=0.438;SNPEFF_AMINO_ACID_CHANGE=M1V;SNPEFF_CODON_CHANGE=Atg/Gtg;SNPEFF_EFFECT=START_LOST;SNPEFF_EXON_ID=exon_1_149906341_149906419;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MTMR11;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000405710 GT:AD:DP:GQ:PL 0/1:23,17:40:99:472,0,697
1 149936270 . C T 887.59 PASS AB=0.45;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.244;DP=60;Dels=0.0;FS=2.536;HRun=0;HaplotypeScore=2.9309;MQ=60.0;MQ0=0;MQRankSum=0.149;QD=14.79;ReadPosRankSum=-0.253;SNPEFF_AMINO_ACID_CHANGE=M203I;SNPEFF_CODON_CHANGE=atG/atA;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_149936147_149936274;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OTUD7B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000369135 GT:AD:DP:GQ:PL 0/1:27,33:60:99:918,0,805
1 150048871 rs72692896 A T 158.84 PASS AB=0.611;AC=1;AF=0.50;AN=2;BaseQRankSum=1.177;DB;DP=18;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.362;QD=8.82;ReadPosRankSum=-0.815;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VPS45;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369128 GT:AD:DP:GQ:PL 0/1:11,7:18:99:189,0,374
1 150049934 rs72692897 A G 80.14 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.133;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.365;QD=8.01;ReadPosRankSum=-0.741;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VPS45;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460366 GT:AD:DP:GQ:PL 0/1:6,4:10:99:110,0,201
1 150055021 rs3736082 G A 116.85 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.731;QD=23.37;ReadPosRankSum=0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VPS45;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369128 GT:AD:DP:GQ:PL 0/1:1,4:5:27.60:147,0,28
1 150122493 rs4553237 T C 295.43 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=57.87;MQ0=0;QD=26.86;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VPS45;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369130 GT:AD:DP:GQ:PL 1/1:0,11:11:27.08:328,27,0
1 150128006 rs11205334 G A 244.70 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.96;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEKHO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000492304 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:278,21,0
1 150128425 rs1545762 C T 720.92 PASS AB=0.477;AC=1;AF=0.50;AN=2;BaseQRankSum=3.407;DB;DP=45;Dels=0.0;FS=1.747;HRun=0;HaplotypeScore=0.8321;MQ=58.45;MQ0=0;MQRankSum=0.728;QD=16.02;ReadPosRankSum=-1.762;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEKHO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000492304 GT:AD:DP:GQ:PL 0/1:21,23:45:99:751,0,591
1 150129267 rs10749675 G A 912.72 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.51;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEKHO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000492304 GT:AD:DP:GQ:PL 1/1:0,25:25:72.23:946,72,0
1 150129335 rs3208509 G A 227.30 PASS AB=0.385;AC=1;AF=0.50;AN=2;BaseQRankSum=0.212;DB;DP=13;Dels=0.0;FS=2.158;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.212;QD=17.48;ReadPosRankSum=0.533;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEKHO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000492304 GT:AD:DP:GQ:PL 0/1:5,8:13:99:257,0,151
1 150130982 . G GC 1970.85 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=7.19;DP=99;FS=4.613;HRun=0;HaplotypeScore=463.5105;IndelType=I;MQ=60.03;MQ0=0;MQRankSum=0.844;QD=19.91;ReadPosRankSum=-0.018;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEKHO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477309 GT:AD:DP:GQ:PL 0/1:44,55:99:99:2010,0,1448
1 150234657 rs34714364 G T 1037.94 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.867;DB;DP=93;Dels=0.0;FS=3.07;HRun=0;HaplotypeScore=3.6491;MQ=59.45;MQ0=0;MQRankSum=0.91;QD=11.16;ReadPosRankSum=-0.36;SNPEFF_AMINO_ACID_CHANGE=G119;SNPEFF_CODON_CHANGE=ggG/ggT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_150234557_150234699;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CA14;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000369111 GT:AD:DP:GQ:PL 0/1:50,43:93:99:1068,0,1594
1 150236313 . TC T 51.74 QDFilter2 AB=0.934;AC=1;AF=0.50;AN=2;BaseQRankSum=3.444;DP=71;FS=3.08;HRun=1;HaplotypeScore=822.7172;IndelType=D;MQ=44.44;MQ0=0;MQRankSum=-3.001;QD=0.73;ReadPosRankSum=-2.35;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=APH1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236017 GT:AD:DP:GQ:PL 0/1:66,5:71:90.77:91,0,276
1 150249101 rs11205354 C A 359.15 PASS AB=0.45;AC=1;AF=0.50;AN=2;BaseQRankSum=1.14;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.532;QD=17.96;ReadPosRankSum=0.456;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf54;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369098 GT:AD:DP:GQ:PL 0/1:9,11:20:99:389,0,303
1 150255587 rs2147324 T C 549.67 PASS AB=0.575;AC=1;AF=0.50;AN=2;BaseQRankSum=0.739;DB;DP=40;Dels=0.0;FS=2.052;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.93;QD=13.74;ReadPosRankSum=1.368;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf54;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369098 GT:AD:DP:GQ:PL 0/1:23,17:40:99:580,0,762
1 150258838 rs1122967 C G 1135.48 PASS AB=0.54;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.68;DB;DP=87;Dels=0.0;FS=8.425;HRun=0;HaplotypeScore=3.3879;MQ=60.0;MQ0=0;MQRankSum=-0.723;QD=13.05;ReadPosRankSum=-0.481;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf51;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469255 GT:AD:DP:GQ:PL 0/1:47,40:87:99:1165,0,1563
1 150259400 rs9126 A C 434.97 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.717;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9973;MQ=60.0;MQ0=0;MQRankSum=0.183;QD=12.08;ReadPosRankSum=1.617;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf51;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000417398 GT:AD:DP:GQ:PL 0/1:21,15:36:99:465,0,621
1 150280801 rs8006 G C 42.84 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.026;QD=10.71;ReadPosRankSum=0.0;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AL138795.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366377 GT:AD:DP:GQ:PL 0/1:2,2:4:72.20:73,0,72
1 150297334 rs75011188 CT C 144.03 PASS AB=0.646;AC=1;AF=0.50;AN=2;BaseQRankSum=0.52;DB;DP=64;FS=2.431;HRun=16;HaplotypeScore=419.6695;IndelType=D;MQ=50.63;MQ0=0;MQRankSum=0.59;QD=2.25;ReadPosRankSum=2.289;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRPF3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000324862 GT:AD:DP:GQ:PL 0/1:28,27:64:99:183,0,263
1 150300727 rs834225 T C 264.07 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.896;DB;DP=28;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9159;MQ=60.0;MQ0=0;MQRankSum=1.355;QD=9.43;ReadPosRankSum=0.253;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRPF3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000324862 GT:AD:DP:GQ:PL 0/1:14,14:28:99:294,0,441
1 150307270 rs1260408 T G 73.19 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.988;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=12.2;ReadPosRankSum=0.406;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRPF3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000324862 GT:AD:DP:GQ:PL 0/1:3,3:6:99:103,0,99
1 150315719 rs146467247 AAAAAAAT A 218.19 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=6;FS=0.0;HRun=0;HaplotypeScore=48.4758;IndelType=D;MQ=58.68;MQ0=0;MQRankSum=0.736;QD=36.37;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRPF3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000324862 GT:AD:DP:GQ:PL 0/1:1,5:6:20.63:257,0,21
1 150321486 rs1625468 G A 322.10 PASS AB=0.542;AC=1;AF=0.50;AN=2;BaseQRankSum=0.406;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.29;QD=13.42;ReadPosRankSum=0.348;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRPF3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000493553 GT:AD:DP:GQ:PL 0/1:13,11:24:99:352,0,447
1 150389964 rs74992727 GA G 701.60 PASS AB=0.67;AC=1;AF=0.50;AN=2;BaseQRankSum=5.816;DB;DP=75;FS=0.0;HRun=10;HaplotypeScore=183.3636;IndelType=D;MQ=60.86;MQ0=0;MQRankSum=0.141;QD=9.35;ReadPosRankSum=-1.514;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RPRD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369067 GT:AD:DP:GQ:PL 0/1:38,37:75:99:741,0,1003
1 150390413 rs1260418 C T 73.55 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=14.71;ReadPosRankSum=-0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RPRD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369067 GT:AD:DP:GQ:PL 0/1:2,3:5:66.50:104,0,66
1 150432870 rs141601995 GGTT G 276.49 PASS AB=0.71;AC=1;AF=0.50;AN=2;BaseQRankSum=1.684;DB;DP=22;FS=0.0;HRun=0;HaplotypeScore=103.2139;IndelType=D;MQ=60.49;MQ0=0;MQRankSum=0.722;QD=12.57;ReadPosRankSum=-0.337;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RPRD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369068 GT:AD:DP:GQ:PL 0/1:13,9:22:99:316,0,401
1 150436922 rs75323812 A G 67.87 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.956;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=50.96;MQ0=0;MQRankSum=0.322;QD=6.17;ReadPosRankSum=0.684;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RPRD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369068 GT:AD:DP:GQ:PL 0/1:7,4:11:97.86:98,0,178
1 150445819 rs7002 A G 1348.98 PASS AB=0.489;AC=1;AF=0.50;AN=2;BaseQRankSum=0.448;DB;DP=92;Dels=0.0;FS=1.939;HRun=0;HaplotypeScore=0.8321;MQ=59.8;MQ0=0;MQRankSum=-0.179;QD=14.66;ReadPosRankSum=-0.329;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RPRD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000539519 GT:AD:DP:GQ:PL 0/1:45,47:92:99:1379,0,1462
1 150460168 rs2275246 A G 161.30 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.259;DB;DP=12;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.467;QD=13.44;ReadPosRankSum=0.779;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TARS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369051 GT:AD:DP:GQ:PL 0/1:6,6:12:99:191,0,197
1 150471848 rs71580306 A AT 200.80 PASS AB=0.78;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.253;DB;DP=39;FS=0.0;HRun=11;HaplotypeScore=123.4814;IndelType=I;MQ=59.09;MQ0=0;MQRankSum=1.151;QD=5.15;ReadPosRankSum=0.198;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TARS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000438568 GT:AD:DP:GQ:PL 0/1:27,11:39:99:240,0,368
1 150477061 rs3738487 C T 1571.35 PASS AB=0.473;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.39;DB;DP=110;Dels=0.0;FS=5.921;HRun=2;HaplotypeScore=0.5784;MQ=58.81;MQ0=0;MQRankSum=1.155;QD=14.29;ReadPosRankSum=-0.119;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TARS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463555 GT:AD:DP:GQ:PL 0/1:52,58:110:99:1601,0,1397
1 150483236 rs9661040 A C 195.71 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.158;DB;DP=16;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=0.683;QD=12.23;ReadPosRankSum=0.263;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ECM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000490346 GT:AD:DP:GQ:PL 0/1:8,8:16:99:226,0,261
1 150483355 rs3737240 C T 1233.64 PASS AB=0.449;AC=1;AF=0.50;AN=2;BaseQRankSum=2.724;DB;DP=78;Dels=0.0;FS=0.887;HRun=0;HaplotypeScore=0.9332;MQ=59.41;MQ0=0;MQRankSum=1.503;QD=15.82;ReadPosRankSum=0.138;SNPEFF_AMINO_ACID_CHANGE=T130M;SNPEFF_CODON_CHANGE=aCg/aTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_150483352_150483674;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ECM1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000346569 GT:AD:DP:GQ:PL 0/1:35,43:78:99:1264,0,954
1 150483840 rs4970979 C T 680.49 PASS AB=0.528;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.9;DB;DP=53;Dels=0.0;FS=1.332;HRun=1;HaplotypeScore=0.0;MQ=59.56;MQ0=0;MQRankSum=0.541;QD=12.84;ReadPosRankSum=1.551;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ECM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000490346 GT:AD:DP:GQ:PL 0/1:28,25:53:99:710,0,884
1 150484395 rs71580308 ACC A 236.78 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=1.733;DB;DP=10;FS=0.0;HRun=7;HaplotypeScore=45.7411;IndelType=D;MQ=55.21;MQ0=0;MQRankSum=0.48;QD=23.68;ReadPosRankSum=0.48;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ECM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000490346 GT:AD:DP:GQ:PL 0/1:2,8:10:74.87:276,0,75
1 150484555 rs875514 C G 37.93 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.026;DB;DP=4;Dels=0.0;FS=4.771;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.026;QD=9.48;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ECM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000490346 GT:AD:DP:GQ:PL 0/1:2,2:4:67.92:68,0,72
1 150484987 rs13294 G A 1216.20 PASS AB=0.368;AC=1;AF=0.50;AN=2;BaseQRankSum=2.505;DB;DP=57;Dels=0.0;FS=7.948;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.052;QD=21.34;ReadPosRankSum=1.017;SNPEFF_AMINO_ACID_CHANGE=G290S;SNPEFF_CODON_CHANGE=Ggt/Agt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_150484828_150485048;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ECM1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000346569 GT:AD:DP:GQ:PL 0/1:21,36:57:99:1246,0,581
1 150485571 rs12031974 T C 51.16 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.58;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ECM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000490346 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
1 150526044 rs41317515 G C 819.54 PASS AB=0.522;AC=1;AF=0.50;AN=2;BaseQRankSum=1.503;DB;DP=68;Dels=0.0;FS=0.997;HRun=1;HaplotypeScore=1.4679;MQ=58.7;MQ0=0;MQRankSum=-1.092;QD=12.05;ReadPosRankSum=-0.18;SNPEFF_AMINO_ACID_CHANGE=A193P;SNPEFF_CODON_CHANGE=Gct/Cct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_150525902_150526598;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADAMTSL4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000271643 GT:AD:DP:GQ:PL 0/1:35,32:68:99:850,0,1093
1 150526406 rs6681639 C T 121.84 PASS AB=0.647;AC=1;AF=0.50;AN=2;BaseQRankSum=0.754;DB;DP=17;Dels=0.0;FS=2.077;HRun=0;HaplotypeScore=0.9469;MQ=58.63;MQ0=0;MQRankSum=-0.452;QD=7.17;ReadPosRankSum=-1.156;SNPEFF_AMINO_ACID_CHANGE=G313;SNPEFF_CODON_CHANGE=ggC/ggT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_150525902_150526598;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADAMTSL4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000271643 GT:AD:DP:GQ:PL 0/1:11,6:17:99:152,0,375
1 150529322 rs34379037 T TAA 2811.55 PASS AB=0.644;AC=1;AF=0.50;AN=2;BaseQRankSum=-6.609;DB;DP=93;FS=4.743;HRun=0;HaplotypeScore=284.7721;IndelType=I;MQ=59.67;MQ0=0;MQRankSum=1.771;QD=29.91;ReadPosRankSum=0.772;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADAMTSL4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000483335 GT:AD:DP:GQ:PL 0/1:42,52:93:99:2851,0,1684
1 150531008 rs10888382 T C 1143.27 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.52;MQ0=0;QD=29.31;SNPEFF_AMINO_ACID_CHANGE=N352;SNPEFF_CODON_CHANGE=aaT/aaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_150530949_150531125;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADAMTSL4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000407995 GT:AD:DP:GQ:PL 1/1:0,39:39:90.28:1176,90,0
1 150531050 rs10749657 G A 1233.55 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9159;MQ=58.9;MQ0=0;QD=32.46;SNPEFF_AMINO_ACID_CHANGE=P366;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_150530949_150531125;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADAMTSL4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000407995 GT:AD:DP:GQ:PL 1/1:0,38:38:99:1267,102,0
1 150531170 rs10749658 C T 551.81 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.63;MQ0=0;QD=32.46;SNPEFF_AMINO_ACID_CHANGE=H868;SNPEFF_CODON_CHANGE=caC/caT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_150530949_150531224;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADAMTSL4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000369041 GT:AD:DP:GQ:PL 1/1:0,17:17:42.14:585,42,0
1 150531380 rs11204664 T C 84.28 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.09;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADAMTSL4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000369041 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:116,9,0
1 150550019 rs11428742 T TA 4518.63 PASS AC=2;AF=1.00;AN=2;DB;DP=103;FS=0.0;HRun=1;HaplotypeScore=206.3531;IndelType=I;MQ=60.73;MQ0=0;QD=43.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MCL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307940 GT:AD:DP:GQ:PL 1/1:2,101:103:99:4519,304,0
1 150551295 rs35661734 T C 236.52 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.182;DB;DP=22;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.919;QD=10.75;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MCL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307940 GT:AD:DP:GQ:PL 0/1:11,11:22:99:267,0,362
1 150600181 rs2280078 C T 114.56 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=1.307;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.159;QD=12.73;ReadPosRankSum=-1.881;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ENSA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271690 GT:AD:DP:GQ:PL 0/1:4,5:9:99:145,0,114
1 150666797 rs7412396 G A 388.13 PASS AB=0.083;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.29;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=32.34;ReadPosRankSum=1.448;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GOLPH3L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479757 GT:AD:DP:GQ:PL 0/1:1,11:12:5.64:418,0,6
1 150666990 rs2867300 G C 174.41 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.88;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HORMAD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000322343 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:207,15,0
1 150671243 rs147622250 AC A 1061.39 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=5.739;DB;DP=48;FS=5.762;HRun=1;HaplotypeScore=111.9576;IndelType=D;MQ=60.23;MQ0=0;MQRankSum=-1.714;QD=22.11;ReadPosRankSum=1.587;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HORMAD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000322343 GT:AD:DP:GQ:PL 0/1:18,30:48:99:1100,0,701
1 150676485 rs12403609 T C 79.27 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.727;QD=19.82;ReadPosRankSum=0.727;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HORMAD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368987 GT:AD:DP:GQ:PL 0/1:1,3:4:31.54:109,0,32
1 150678910 rs1336899 T C 244.08 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.325;DB;DP=18;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9578;MQ=58.71;MQ0=0;MQRankSum=0.088;QD=13.56;ReadPosRankSum=-1.766;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HORMAD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368987 GT:AD:DP:GQ:PL 0/1:9,9:18:99:274,0,329
1 150679033 rs1336900 G A 984.21 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.911;DB;DP=66;Dels=0.0;FS=1.028;HRun=0;HaplotypeScore=0.0;MQ=59.65;MQ0=0;MQRankSum=0.333;QD=14.91;ReadPosRankSum=0.18;SNPEFF_AMINO_ACID_CHANGE=T187I;SNPEFF_CODON_CHANGE=aCa/aTa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_150679029_150679285;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HORMAD1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368995 GT:AD:DP:GQ:PL 0/1:33,33:66:99:1014,0,1044
1 150679358 rs11586422 C T 229.16 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=1.271;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.733;QD=22.92;ReadPosRankSum=0.48;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HORMAD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000322343 GT:AD:DP:GQ:PL 0/1:2,8:10:45.06:259,0,45
1 150686633 rs34593358 A T 445.25 PASS AB=0.717;AC=1;AF=0.50;AN=2;BaseQRankSum=1.196;DB;DP=60;Dels=0.0;FS=2.89;HRun=1;HaplotypeScore=2.4063;MQ=59.62;MQ0=0;MQRankSum=0.837;QD=7.42;ReadPosRankSum=-0.803;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HORMAD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000322343 GT:AD:DP:GQ:PL 0/1:43,17:60:99:475,0,1206
1 150705755 rs1415148 G A 80.71 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.358;QD=16.14;ReadPosRankSum=-0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CTSS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368985 GT:AD:DP:GQ:PL 0/1:2,3:5:69.41:111,0,69
1 150727329 rs12068264 C T 323.37 PASS AB=0.214;AC=1;AF=0.50;AN=2;BaseQRankSum=0.085;DB;DP=15;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.45;MQ0=0;MQRankSum=-0.423;QD=21.56;ReadPosRankSum=0.761;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CTSS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368985 GT:AD:DP:GQ:PL 0/1:3,11:15:68.86:353,0,69
1 150727539 rs2230061 G A 1051.21 PASS AB=0.589;AC=1;AF=0.50;AN=2;BaseQRankSum=1.093;DB;DP=96;Dels=0.0;FS=2.735;HRun=1;HaplotypeScore=0.0;MQ=59.61;MQ0=0;MQRankSum=0.208;QD=10.95;ReadPosRankSum=0.155;SNPEFF_AMINO_ACID_CHANGE=R113W;SNPEFF_CODON_CHANGE=Cgg/Tgg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_150727477_150727626;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CTSS;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368985 GT:AD:DP:GQ:PL 0/1:56,39:96:99:1081,0,1682
1 150730184 rs11204722 C A 44.50 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=11.13;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CTSS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368985 GT:AD:DP:GQ:PL 0/1:1,3:4:27.95:74,0,28
1 150730279 rs2275235 A G 150.55 PASS AB=0.632;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.887;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.9601;MQ=60.0;MQ0=0;MQRankSum=-0.211;QD=7.92;ReadPosRankSum=-0.296;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CTSS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368985 GT:AD:DP:GQ:PL 0/1:12,7:19:99:181,0,338
1 150771703 rs10788796 T C 1602.56 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.54;MQ0=0;QD=32.05;SNPEFF_AMINO_ACID_CHANGE=A277;SNPEFF_CODON_CHANGE=gcA/gcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_150771644_150771749;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CTSK;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000271651 GT:AD:DP:GQ:PL 1/1:0,50:50:99:1636,126,0
1 150779755 rs6587522 C T 2305.81 PASS AC=2;AF=1.00;AN=2;DB;DP=75;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9469;MQ=58.57;MQ0=0;QD=30.74;SNPEFF_AMINO_ACID_CHANGE=R49K;SNPEFF_CODON_CHANGE=aGg/aAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_150779725_150779910;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CTSK;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000443913 GT:AD:DP:GQ:PL 1/1:0,75:75:99:2339,178,0
1 150784620 rs10305748 C T 427 PASS AB=0.543;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.362;DB;DP=35;Dels=0.0;FS=3.837;HRun=0;HaplotypeScore=0.9159;MQ=60.0;MQ0=0;MQRankSum=0.397;QD=12.2;ReadPosRankSum=2.053;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARNT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354396 GT:AD:DP:GQ:PL 0/1:19,16:35:99:457,0,495
1 150789961 rs3894771 A T 50.12 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.473;DB;DP=15;Dels=0.0;FS=0.0;HRun=8;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.177;QD=3.34;ReadPosRankSum=0.177;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARNT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354396 GT:AD:DP:GQ:PL 0/1:9,6:15:80.11:80,0,330
1 150801466 rs3738483 T C 173.56 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.71;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARNT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468970 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:206,15,0
1 150804429 rs10305704 A C 62.72 PASS AB=0.76;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.223;DB;DP=25;Dels=0.0;FS=2.566;HRun=0;HaplotypeScore=2.8365;MQ=58.13;MQ0=0;MQRankSum=-1.941;QD=2.51;ReadPosRankSum=1.686;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARNT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000497108 GT:AD:DP:GQ:PL 0/1:19,6:25:92.71:93,0,610
1 150808889 rs2228099 C G 514.02 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.501;DB;DP=45;Dels=0.0;FS=4.454;HRun=0;HaplotypeScore=2.3609;MQ=59.07;MQ0=0;MQRankSum=-0.477;QD=11.42;ReadPosRankSum=-1.895;SNPEFF_AMINO_ACID_CHANGE=V173;SNPEFF_CODON_CHANGE=gtG/gtC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_150808756_150808969;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARNT;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000394700 GT:AD:DP:GQ:PL 0/1:25,20:45:99:544,0,787
1 150811712 rs1027699 T C 33.21 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=11.07;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARNT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000504358 GT:AD:DP:GQ:PL 0/1:1,2:3:32.73:63,0,33
1 150811794 rs2256355 T C 191.18 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.248;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.248;QD=21.24;ReadPosRankSum=-2.054;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARNT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000504358 GT:AD:DP:GQ:PL 0/1:3,6:9:98.66:221,0,99
1 150815054 rs149242771 GA G 104.62 PASS AB=0.741;AC=1;AF=0.50;AN=2;BaseQRankSum=2.54;DB;DP=20;FS=0.0;HRun=9;HaplotypeScore=57.8268;IndelType=D;MQ=60.15;MQ0=0;MQRankSum=-0.529;QD=5.23;ReadPosRankSum=-0.741;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARNT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354396 GT:AD:DP:GQ:PL 0/1:13,7:20:99:144,0,261
1 150923099 rs17661357 T C 1061.90 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=3.439;DB;DP=77;Dels=0.0;FS=3.134;HRun=1;HaplotypeScore=5.8189;MQ=57.87;MQ0=0;MQRankSum=0.729;QD=13.79;ReadPosRankSum=-1.105;SNPEFF_AMINO_ACID_CHANGE=C582;SNPEFF_CODON_CHANGE=tgT/tgC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_150922934_150923566;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SETDB1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000271640 GT:AD:DP:GQ:PL 0/1:35,42:77:99:1092,0,1060
1 150923774 rs2124952 T A 817.63 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=2.027;DB;DP=45;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.734;MQ=59.49;MQ0=0;MQRankSum=-2.606;QD=18.17;ReadPosRankSum=0.498;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SETDB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000534805 GT:AD:DP:GQ:PL 0/1:18,27:45:99:848,0,532
1 150935872 rs2280627 A G 555.50 PASS AB=0.578;AC=1;AF=0.50;AN=2;BaseQRankSum=1.11;DB;DP=45;Dels=0.0;FS=3.882;HRun=2;HaplotypeScore=0.0;MQ=59.59;MQ0=0;MQRankSum=0.561;QD=12.34;ReadPosRankSum=-0.871;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CERS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271688 GT:AD:DP:GQ:PL 0/1:26,19:45:99:585,0,901
1 150936280 rs74681459 C G 392.81 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.273;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.35;QD=19.64;ReadPosRankSum=0.27;SNPEFF_AMINO_ACID_CHANGE=N1244K;SNPEFF_CODON_CHANGE=aaC/aaG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_150936006_150936327;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SETDB1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000498193 GT:AD:DP:GQ:PL 0/1:8,12:20:99:423,0,259
1 150938571 rs8444 G A 575.60 PASS AB=0.577;AC=1;AF=0.50;AN=2;BaseQRankSum=4.935;DB;DP=52;Dels=0.0;FS=6.524;HRun=0;HaplotypeScore=0.9578;MQ=59.56;MQ0=0;MQRankSum=0.029;QD=11.07;ReadPosRankSum=1.017;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CERS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361419 GT:AD:DP:GQ:PL 0/1:30,22:52:99:606,0,759
1 150938616 rs267739 G A 2627.26 PASS AC=2;AF=1.00;AN=2;DB;DP=80;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.6651;MQ=59.19;MQ0=0;QD=32.84;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CERS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361419 GT:AD:DP:GQ:PL 1/1:0,80:80:99:2660,196,0
1 150939744 rs11204750 C A 617.73 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.0;DB;DP=39;Dels=0.0;FS=5.225;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.254;QD=15.84;ReadPosRankSum=-0.408;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CERS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421609 GT:AD:DP:GQ:PL 0/1:18,21:39:99:648,0,557
1 150940357 rs6656535 G T 701.66 PASS AB=0.639;AC=1;AF=0.50;AN=2;BaseQRankSum=0.697;DB;DP=83;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.8899;MQ=59.16;MQ0=0;MQRankSum=-1.076;QD=8.45;ReadPosRankSum=0.09;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CERS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000457392 GT:AD:DP:GQ:PL 0/1:53,30:83:99:732,0,1751
1 150940358 rs59988025 C T 690.10 PASS AB=0.627;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.038;DB;DP=83;Dels=0.0;FS=2.531;HRun=0;HaplotypeScore=0.8941;MQ=59.16;MQ0=0;MQRankSum=-0.946;QD=8.31;ReadPosRankSum=-0.221;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CERS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000457392 GT:AD:DP:GQ:PL 0/1:52,31:83:99:720,0,1667
1 150940625 rs267738 T G 781.15 PASS AB=0.515;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.115;DB;DP=67;Dels=0.0;FS=7.159;HRun=0;HaplotypeScore=0.0;MQ=59.72;MQ0=0;MQRankSum=1.887;QD=11.66;ReadPosRankSum=1.672;SNPEFF_AMINO_ACID_CHANGE=E115A;SNPEFF_CODON_CHANGE=gAg/gCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_150940559_150940677;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CERS2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000271688 GT:AD:DP:GQ:PL 0/1:34,32:67:99:811,0,899
1 150941381 rs752376 C T 764.71 PASS AB=0.518;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.558;DB;DP=57;Dels=0.0;FS=1.052;HRun=1;HaplotypeScore=0.8321;MQ=58.86;MQ0=0;MQRankSum=0.246;QD=13.42;ReadPosRankSum=-1.361;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SETDB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271640 GT:AD:DP:GQ:PL 0/1:29,27:57:99:795,0,928
1 150944541 rs267737 A G 33.09 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=16.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CERS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271688 GT:AD:DP:GQ:PL 1/1:0,2:2:6:64,6,0
1 150958836 rs267733 A G 499.66 PASS AB=0.452;AC=1;AF=0.50;AN=2;BaseQRankSum=2.322;DB;DP=31;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.377;QD=16.12;ReadPosRankSum=0.496;SNPEFF_AMINO_ACID_CHANGE=D166G;SNPEFF_CODON_CHANGE=gAc/gGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_150958812_150958891;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANXA9;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368947 GT:AD:DP:GQ:PL 0/1:14,17:31:99:530,0,403
1 150958977 rs2305814 T C 361.22 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.202;DB;DP=24;Dels=0.0;FS=1.815;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.087;QD=15.05;ReadPosRankSum=0.491;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANXA9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474997 GT:AD:DP:GQ:PL 0/1:12,12:24:99:391,0,418
1 150960350 rs7532008 A C 40.57 QDFilter2 AB=0.846;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.001;DB;DP=26;Dels=0.0;FS=5.31;HRun=1;HaplotypeScore=0.0;MQ=59.11;MQ0=0;MQRankSum=-0.556;QD=1.56;ReadPosRankSum=-1.89;SNPEFF_AMINO_ACID_CHANGE=A205;SNPEFF_CODON_CHANGE=gcA/gcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_150960348_150960432;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANXA9;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000368947 GT:AD:DP:GQ:PL 0/1:22,4:26:70.57:71,0,676
1 150969992 rs2925740 T C 47.34 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.67;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANXA9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368947 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
1 150970577 rs2925741 G T 3652.51 PASS AC=2;AF=1.00;AN=2;DB;DP=102;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=1.9963;MQ=59.0;MQ0=0;QD=35.81;SNPEFF_AMINO_ACID_CHANGE=T243K;SNPEFF_CODON_CHANGE=aCg/aAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_150970558_150970749;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM63A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000312210 GT:AD:DP:GQ:PL 1/1:0,102:102:99:3653,283,0
1 150970836 rs1673160 T A 436.54 PASS AB=0.605;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.819;DB;DP=43;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.81;MQ0=0;MQRankSum=-1.461;QD=10.15;ReadPosRankSum=-0.615;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANXA9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368947 GT:AD:DP:GQ:PL 0/1:26,17:43:99:467,0,898
1 150972538 rs708909 G A 211.75 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.62;MQ0=0;QD=30.25;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANXA9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368947 GT:AD:DP:GQ:PL 1/1:0,7:7:18.06:245,18,0
1 150973514 rs771203 G A 168.15 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.63;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM63A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000312210 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:201,15,0
1 150974162 rs771204 G A 352.31 PASS AB=0.464;AC=1;AF=0.50;AN=2;BaseQRankSum=1.529;DB;DP=28;Dels=0.0;FS=4.151;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.48;QD=12.58;ReadPosRankSum=-0.995;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM63A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000312210 GT:AD:DP:GQ:PL 0/1:13,15:28:99:382,0,338
1 150975108 rs771205 T C 1175.27 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;QD=30.14;SNPEFF_AMINO_ACID_CHANGE=K44E;SNPEFF_CODON_CHANGE=Aag/Gag;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_150974641_150975182;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM63A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000361738 GT:AD:DP:GQ:PL 1/1:0,39:39:99:1208,102,0
1 150990466 rs71090118 C CAT 520.39 PASS AC=2;AF=1.00;AN=2;DB;DP=11;FS=0.0;HRun=0;HaplotypeScore=31.1873;IndelType=I;MQ=60.0;MQ0=0;QD=47.31;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PRUNE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271619 GT:AD:DP:GQ:PL 1/1:0,11:11:30.10:562,30,0
1 150990825 rs3738480 A G 5169.91 PASS AC=2;AF=1.00;AN=2;DB;DP=141;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.84;MQ0=0;QD=36.67;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PRUNE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271619 GT:AD:DP:GQ:PL 1/1:0,141:141:99:5170,382,0
1 150991285 rs6664220 A G 85.46 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.49;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PRUNE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271619 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:117,9,0
1 150991330 rs6664295 A C 93.19 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.06;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PRUNE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271619 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:125,9,0
1 150997940 rs3738478 T C 669.78 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.21;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PRUNE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271619 GT:AD:DP:GQ:PL 1/1:0,18:18:51.17:703,51,0
1 150998221 rs111600445 AT A 576.47 PASS AC=2;AF=1.00;AN=2;DB;DP=38;FS=0.0;HRun=13;HaplotypeScore=156.9684;IndelType=D;MQ=57.83;MQ0=0;QD=15.17;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PRUNE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271619 GT:AD:DP:GQ:PL 1/1:10,27:38:85.46:619,85,0
1 150999863 rs55717234 A G 63.63 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.546;QD=6.36;ReadPosRankSum=-1.214;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PRUNE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271619 GT:AD:DP:GQ:PL 0/1:7,3:10:93.62:94,0,250
1 151006539 rs3738476 C A 3028.77 PASS AC=2;AF=1.00;AN=2;DB;DP=88;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9832;MQ=59.48;MQ0=0;QD=34.42;SNPEFF_AMINO_ACID_CHANGE=G112;SNPEFF_CODON_CHANGE=ggC/ggA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_151006282_151008189;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PRUNE;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000368935 GT:AD:DP:GQ:PL 1/1:0,88:88:99:3062,235,0
1 151009208 rs41266605 A G 498.44 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=0.248;DB;DP=56;Dels=0.0;FS=1.052;HRun=0;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=0.043;QD=8.9;ReadPosRankSum=-0.487;SNPEFF_AMINO_ACID_CHANGE=T3A;SNPEFF_CODON_CHANGE=Act/Gct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_151009067_151009242;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BNIPL;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000361277 GT:AD:DP:GQ:PL 0/1:36,20:56:99:528,0,1074
1 151015299 rs34746028 G GA 151.79 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.747;DB;DP=10;FS=0.0;HRun=11;HaplotypeScore=25.2382;IndelType=I;MQ=60.94;MQ0=0;MQRankSum=0.747;QD=15.18;ReadPosRankSum=-0.747;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BNIPL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295294 GT:AD:DP:GQ:PL 1/1:4,6:10:0.81:190,1,0
1 151019180 rs6587553 A G 1240.28 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.53;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BNIPL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392802 GT:AD:DP:GQ:PL 1/1:0,42:42:99:1273,102,0
1 151026815 rs2902810 C T 2961.41 PASS AC=2;AF=1.00;AN=2;DB;DP=85;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=60.0;MQ0=0;QD=34.84;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf56;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368926 GT:AD:DP:GQ:PL 1/1:0,85:85:99:2994,217,0
1 151028234 rs11204767 G T 161.67 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.73;MQ0=0;QD=23.1;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_1_151028153_151028469;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC42SE1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000540998 GT:AD:DP:GQ:PL 1/1:0,7:7:15.04:194,15,0
1 151039609 rs3738481 A G 663.60 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.03;MQ0=0;QD=27.65;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MLLT11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368921 GT:AD:DP:GQ:PL 1/1:0,24:24:63.13:697,63,0
1 151040435 rs15740 G A 643.72 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.87;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GABPB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368917 GT:AD:DP:GQ:PL 1/1:0,17:17:51.17:677,51,0
1 151070252 rs35034487 CA C 210.45 PASS AC=2;AF=1.00;AN=2;DB;DP=16;FS=0.0;HRun=14;HaplotypeScore=72.7806;IndelType=D;MQ=58.55;MQ0=0;QD=13.15;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GABPB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368916 GT:AD:DP:GQ:PL 1/1:2,13:16:37.69:252,38,0
1 151104598 rs4971005 A G 103.52 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=53.95;MQ0=0;QD=25.88;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SEMA6C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464018 GT:AD:DP:GQ:PL 1/1:0,4:4:12.03:136,12,0
1 151104950 rs10788800 G A 279.71 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.08;SNPEFF_AMINO_ACID_CHANGE=A446V;SNPEFF_CODON_CHANGE=gCc/gTc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_151104445_151105169;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SEMA6C;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000392792 GT:AD:DP:GQ:PL 1/1:0,9:9:27.06:313,27,0
1 151108137 rs4971007 T G 1762.69 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.64;SNPEFF_AMINO_ACID_CHANGE=T415P;SNPEFF_CODON_CHANGE=Acc/Ccc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_151108067_151108240;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SEMA6C;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368912 GT:AD:DP:GQ:PL 1/1:0,54:54:99:1796,138,0
1 151109641 rs4971008 G A 501.42 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.05;MQ0=0;QD=31.34;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SEMA6C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485745 GT:AD:DP:GQ:PL 1/1:0,16:16:45.11:534,45,0
1 151114882 rs11464219 C CT 722.92 PASS AC=2;AF=1.00;AN=2;DB;DP=17;FS=0.0;HRun=1;HaplotypeScore=35.769;IndelType=I;MQ=61.26;MQ0=0;QD=42.52;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SEMA6C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341697 GT:AD:DP:GQ:PL 1/1:0,17:17:51.17:765,51,0
1 151115186 rs12569193 C T 94.19 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SEMA6C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341697 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:126,9,0
1 151146186 rs7552226 C G 611.25 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.2;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SCNM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368902 GT:AD:DP:GQ:PL 1/1:0,16:16:48.16:644,48,0
1 151149601 rs6656261 A G 209.85 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.98;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=VPS72;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354473 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:243,18,0
1 151157765 rs4971011 T C 293.51 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.36;MQ0=0;QD=32.61;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=VPS72;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463470 GT:AD:DP:GQ:PL 1/1:0,9:9:24.08:326,24,0
1 151204632 rs2298263 C G 243.23 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.598;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.905;QD=8.69;ReadPosRankSum=-0.627;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIP5K1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418435 GT:AD:DP:GQ:PL 0/1:16,12:28:99:273,0,545
1 151205303 rs7544947 A G 238.07 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.01;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIP5K1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418435 GT:AD:DP:GQ:PL 1/1:0,7:7:21.06:271,21,0
1 151209063 rs12407426 C T 1349.18 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.29;MQ0=0;QD=33.73;SNPEFF_AMINO_ACID_CHANGE=Y24;SNPEFF_CODON_CHANGE=taC/taT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_151209034_151209239;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIP5K1A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000414290 GT:AD:DP:GQ:PL 1/1:0,40:40:99:1382,99,0
1 151210789 rs7532935 C T 1055.64 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.2;MQ0=0;QD=36.4;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIP5K1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464105 GT:AD:DP:GQ:PL 1/1:0,29:29:84.26:1089,84,0
1 151212399 rs141190258 C CCTT 6985.42 PASS AC=2;AF=1.00;AN=2;DB;DP=110;FS=0.0;HRun=0;HaplotypeScore=317.5802;IndelType=I;MQ=55.61;MQ0=0;QD=63.5;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIP5K1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460157 GT:AD:DP:GQ:PL 1/1:5,99:110:99:6985,316,0
1 151237589 rs66903183 TC T 446.85 PASS AC=2;AF=1.00;AN=2;DB;DP=18;FS=0.0;HRun=7;HaplotypeScore=53.338;IndelType=D;MQ=59.93;MQ0=0;QD=24.83;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSMD4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461434 GT:AD:DP:GQ:PL 1/1:2,16:18:48.11:489,48,0
1 151238222 rs2275900 G A 313.72 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.423;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.29;MQ0=0;MQRankSum=1.107;QD=28.52;ReadPosRankSum=-0.474;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSMD4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000437736 GT:AD:DP:GQ:PL 1/1:1,10:11:27.09:347,27,0
1 151239051 rs7489 T C 806.66 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.23;MQ0=0;QD=26.89;SNPEFF_AMINO_ACID_CHANGE=S317;SNPEFF_CODON_CHANGE=tcT/tcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_151238996_151239063;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSMD4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000368884 GT:AD:DP:GQ:PL 1/1:0,30:30:72.16:840,72,0
1 151239570 rs10888408 C T 1778.33 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.2;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSMD4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000437736 GT:AD:DP:GQ:PL 1/1:0,52:52:99:1811,141,0
1 151254041 rs3811406 T C 982.44 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9867;MQ=60.0;MQ0=0;QD=35.09;SNPEFF_AMINO_ACID_CHANGE=H32R;SNPEFF_CODON_CHANGE=cAt/cGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_151254019_151254405;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RP11-126K1.2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000447795 GT:AD:DP:GQ:PL 1/1:0,28:28:75.24:1015,75,0
1 151263677 . G GACA 1361.97 PASS AB=0.675;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.51;DP=54;FS=6.343;HRun=0;HaplotypeScore=187.7381;IndelType=I;MQ=59.15;MQ0=0;MQRankSum=0.61;QD=25.22;ReadPosRankSum=0.93;SNPEFF_AMINO_ACID_CHANGE=D1236DN;SNPEFF_CODON_CHANGE=gac/gACAac;SNPEFF_EFFECT=CODON_INSERTION;SNPEFF_EXON_ID=exon_1_151263191_151264379;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF687;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000324048 GT:AD:DP:GQ:PL 0/1:28,25:54:99:1401,0,1048
1 151263782 rs10788803 A G 522.71 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.34;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PI4KB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271657 GT:AD:DP:GQ:PL 1/1:0,14:14:42.13:556,42,0
1 151266354 rs77416301 C T 123.67 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.45;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.336;QD=12.37;ReadPosRankSum=0.103;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PI4KB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469239 GT:AD:DP:GQ:PL 0/1:5,5:10:99:154,0,175
1 151278505 rs2031797 A G 367.40 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.4;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PI4KB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000489223 GT:AD:DP:GQ:PL 1/1:0,11:11:30.10:400,30,0
1 151280400 rs1536617 C G 134.49 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=55.21;MQ0=0;QD=26.9;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PI4KB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271657 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:167,12,0
1 151288172 rs1056847 G A 1242.15 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.25;MQ0=0;QD=33.57;SNPEFF_AMINO_ACID_CHANGE=D262;SNPEFF_CODON_CHANGE=gaC/gaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_151288049_151288985;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PI4KB;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000368872 GT:AD:DP:GQ:PL 1/1:0,37:37:99:1275,99,0
1 151288391 rs1752379 A G 1729.57 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.81;MQ0=0;QD=31.45;SNPEFF_AMINO_ACID_CHANGE=D189;SNPEFF_CODON_CHANGE=gaT/gaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_151288049_151288985;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PI4KB;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000368872 GT:AD:DP:GQ:PL 1/1:0,55:55:99:1763,138,0
1 151314379 rs1752387 T C 36.20 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=12.07;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RFX5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392746 GT:AD:DP:GQ:PL 1/1:0,3:3:6.01:67,6,0
1 151314418 rs2233857 T C 41.49 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=10.37;ReadPosRankSum=1.026;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RFX5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392746 GT:AD:DP:GQ:PL 0/1:2,2:4:64.45:71,0,64
1 151316161 rs1752386 G A 1004.29 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.63;SNPEFF_AMINO_ACID_CHANGE=L143;SNPEFF_CODON_CHANGE=ctC/ctT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_151316157_151316358;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RFX5;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000436637 GT:AD:DP:GQ:PL 1/1:0,26:26:75.25:1037,75,0
1 151337788 rs10788804 A G 456.43 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.6;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SELENBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426705 GT:AD:DP:GQ:PL 1/1:0,14:14:39.11:489,39,0
1 151338570 rs2800953 G A 168.57 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.16;MQ0=0;QD=33.71;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SELENBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427867 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:201,15,0
1 151341728 rs35093538 G GC 423.23 PASS AB=0.698;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.514;DB;DP=30;FS=0.0;HRun=3;HaplotypeScore=63.4483;IndelType=I;MQ=60.36;MQ0=0;MQRankSum=2.165;QD=14.11;ReadPosRankSum=-1.843;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SELENBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368868 GT:AD:DP:GQ:PL 0/1:17,13:30:99:462,0,456
1 151372138 rs7172 G A 3975.96 PASS AC=2;AF=1.00;AN=2;DB;DP=124;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.0756;MQ=59.48;MQ0=0;QD=32.06;SNPEFF_AMINO_ACID_CHANGE=P25;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_151372010_151372203;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSMB4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000290541 GT:AD:DP:GQ:PL 1/1:1,123:124:99:3976,298,0
1 151372770 rs2495390 A G 821 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.14;MQ0=0;QD=30.41;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POGZ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271715 GT:AD:DP:GQ:PL 1/1:0,27:27:69.21:854,69,0
1 151373200 rs2495391 T C 2904.01 PASS AC=2;AF=1.00;AN=2;DB;DP=82;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8667;MQ=59.72;MQ0=0;QD=35.41;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POGZ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271715 GT:AD:DP:GQ:PL 1/1:0,82:82:99:2937,214,0
1 151377248 rs6667714 T C 938.77 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=57.88;MQ0=0;QD=30.28;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POGZ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491586 GT:AD:DP:GQ:PL 1/1:0,31:31:75.24:972,75,0
1 151379250 rs2274535 G A 753.57 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.68;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POGZ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000492528 GT:AD:DP:GQ:PL 1/1:0,19:20:57.19:787,57,0
1 151381320 rs142660073 GA G 3444.39 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.732;DB;DP=125;FS=0.0;HRun=7;HaplotypeScore=347.2334;IndelType=D;MQ=60.41;MQ0=0;MQRankSum=1.702;QD=27.56;ReadPosRankSum=1.428;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POGZ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271715 GT:AD:DP:GQ:PL 1/1:11,114:125:99:3444,337,0
1 151384711 rs1887545 A G 687.36 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.19;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POGZ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271715 GT:AD:DP:GQ:PL 1/1:0,18:18:54.18:720,54,0
1 151384733 rs3748550 G A 736.72 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.84;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POGZ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271715 GT:AD:DP:GQ:PL 1/1:0,20:20:57.19:770,57,0
1 151395782 rs2274533 T C 419.70 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.28;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POGZ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000437847 GT:AD:DP:GQ:PL 1/1:0,12:13:33.11:453,33,0
1 151396037 rs2274534 A C 616.39 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.35;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POGZ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000437847 GT:AD:DP:GQ:PL 1/1:0,21:21:51.16:649,51,0
1 151400942 rs11204811 A C 1323.39 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.93;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POGZ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000450842 GT:AD:DP:GQ:PL 1/1:0,39:39:99:1356,105,0
1 151402045 rs6587577 A G 1323.91 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.399;MQ=60.0;MQ0=0;QD=28.78;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POGZ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000450842 GT:AD:DP:GQ:PL 1/1:0,46:46:99:1357,105,0
1 151414924 rs9659456 A G 96.72 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.18;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POGZ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271715 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:129,9,0
1 151499635 rs2298168 C T 1113.34 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.34;MQ0=0;QD=31.81;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CGN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271636 GT:AD:DP:GQ:PL 1/1:0,35:35:90.28:1146,90,0
1 151501698 rs2096232 A G 146.07 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.35;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CGN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271636 GT:AD:DP:GQ:PL 1/1:0,6:6:15.04:179,15,0
1 151501737 rs6678068 T C 414.55 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.89;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CGN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271636 GT:AD:DP:GQ:PL 1/1:0,13:13:36.11:448,36,0
1 151504690 rs7549296 G A 183.89 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.65;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CGN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464886 GT:AD:DP:GQ:PL 1/1:0,6:6:18.04:217,18,0
1 151506526 rs41272467 G A 213.32 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.839;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.299;QD=11.85;ReadPosRankSum=-0.722;SNPEFF_AMINO_ACID_CHANGE=A940T;SNPEFF_CODON_CHANGE=Gcc/Acc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_151506451_151506612;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CGN;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000271636 GT:AD:DP:GQ:PL 0/1:9,9:18:99:243,0,324
1 151508061 rs11204842 A C 1324.80 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.644;DB;DP=39;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.9469;MQ=60.0;MQ0=0;MQRankSum=-0.133;QD=33.97;ReadPosRankSum=0.044;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CGN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271636 GT:AD:DP:GQ:PL 1/1:1,38:39:99:1358,105,0
1 151510026 rs1418823 A G 55.29 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.43;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CGN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467998 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:87,6,0
1 151512895 rs3828054 A G 427.09 PASS AB=0.529;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.88;DB;DP=34;Dels=0.0;FS=3.329;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.017;QD=12.56;ReadPosRankSum=1.087;SNPEFF_AMINO_ACID_CHANGE=Q18R;SNPEFF_CODON_CHANGE=cAg/cGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_151512781_151512902;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TUFT1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000353024 GT:AD:DP:GQ:PL 0/1:18,16:34:99:457,0,557
1 151535020 rs34211422 A ATC 333.47 PASS AC=2;AF=1.00;AN=2;DB;DP=10;FS=0.0;HRun=0;HaplotypeScore=34.6258;IndelType=I;MQ=61.07;MQ0=0;QD=33.35;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TUFT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000353024 GT:AD:DP:GQ:PL 1/1:2,8:10:24.08:375,24,0
1 151542099 rs3748610 G T 1348.04 PASS AB=0.528;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.525;DB;DP=108;Dels=0.0;FS=3.045;HRun=0;HaplotypeScore=1.664;MQ=60.0;MQ0=0;MQRankSum=1.153;QD=12.48;ReadPosRankSum=-0.395;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TUFT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461859 GT:AD:DP:GQ:PL 0/1:57,51:108:99:1378,0,1672
1 151546931 rs6660238 A G 644.10 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=57.68;MQ0=0;QD=30.67;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TUFT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000498606 GT:AD:DP:GQ:PL 1/1:0,21:21:54.15:677,54,0
1 151551078 rs1544218 A G 31.85 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=15.93;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TUFT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000490156 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:63,6,0
1 151552301 rs3833527 TG T 152.85 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=6;FS=0.0;HRun=1;HaplotypeScore=17.9234;IndelType=D;MQ=57.94;MQ0=0;MQRankSum=0.736;QD=25.47;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TUFT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000490156 GT:AD:DP:GQ:PL 0/1:1,5:6:29.95:192,0,30
1 151634512 rs3831367 A AT 175.58 PASS AC=2;AF=1.00;AN=2;DB;DP=6;FS=0.0;HRun=7;HaplotypeScore=10.9531;IndelType=I;MQ=61.78;MQ0=0;QD=29.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=SNX27;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368838 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:217,18,0
1 151675618 rs1308150 T C 328.72 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.39;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELF3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368833 GT:AD:DP:GQ:PL 1/1:0,12:12:30.09:362,30,0
1 151679963 rs2280473 C T 111.47 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=1.754;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.55;QD=15.92;ReadPosRankSum=0.55;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELF3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000419910 GT:AD:DP:GQ:PL 0/1:3,4:7:94.87:141,0,95
1 151681567 rs2280474 G A 590.03 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=2.053;DB;DP=36;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.83;MQ0=0;MQRankSum=-0.684;QD=16.39;ReadPosRankSum=0.589;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELF3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000290583 GT:AD:DP:GQ:PL 0/1:16,20:36:99:620,0,453
1 151681635 rs2280475 T C 711.26 PASS AB=0.519;AC=1;AF=0.50;AN=2;BaseQRankSum=1.868;DB;DP=53;Dels=0.0;FS=6.755;HRun=1;HaplotypeScore=4.1719;MQ=58.77;MQ0=0;MQRankSum=-1.593;QD=13.42;ReadPosRankSum=-1.831;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELF3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000290583 GT:AD:DP:GQ:PL 0/1:27,25:53:99:741,0,819
1 151686983 rs939592 T A 83.15 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.79;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELF3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000290583 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:115,9,0
1 151732700 rs10888433 A G 1468.69 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;QD=34.16;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MRPL9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461182 GT:AD:DP:GQ:PL 1/1:0,43:43:99:1502,114,0
1 151733335 rs8480 T G 1695.37 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9469;MQ=48.76;MQ0=0;QD=30.27;SNPEFF_AMINO_ACID_CHANGE=E176A;SNPEFF_CODON_CHANGE=gAa/gCa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_151733292_151733375;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MRPL9;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368829 GT:AD:DP:GQ:PL 1/1:1,55:56:99:1728,138,0
1 151735576 rs7007 T C 769.70 PASS AB=0.423;AC=1;AF=0.50;AN=2;BaseQRankSum=2.176;DB;DP=52;Dels=0.0;FS=3.58;HRun=4;HaplotypeScore=0.9997;MQ=60.0;MQ0=0;MQRankSum=-1.713;QD=14.8;ReadPosRankSum=-0.417;SNPEFF_AMINO_ACID_CHANGE=E67G;SNPEFF_CODON_CHANGE=gAg/gGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_151735466_151735622;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MRPL9;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368829 GT:AD:DP:GQ:PL 0/1:22,30:52:99:800,0,632
1 151740420 rs12066445 G A 218.22 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=0.935;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.493;QD=16.79;ReadPosRankSum=1.093;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OAZ3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418982 GT:AD:DP:GQ:PL 0/1:6,7:13:99:248,0,202
1 151740479 rs1196457 C A 1184.89 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.92;MQ0=0;QD=27.56;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OAZ3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418982 GT:AD:DP:GQ:PL 1/1:0,43:43:96.30:1218,96,0
1 151740666 rs2495397 T C 1776.58 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.7621;MQ=60.0;MQ0=0;QD=32.9;SNPEFF_AMINO_ACID_CHANGE=L101;SNPEFF_CODON_CHANGE=Ttg/Ctg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_151740534_151740709;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OAZ3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000315067 GT:AD:DP:GQ:PL 1/1:0,54:54:99:1810,135,0
1 151742494 rs4995159 A G 491.32 PASS AB=0.379;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.339;DB;DP=29;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=52.24;MQ0=0;MQRankSum=-2.182;QD=16.94;ReadPosRankSum=-0.264;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OAZ3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418982 GT:AD:DP:GQ:PL 0/1:11,18:29:99:521,0,318
1 151742550 . GGAGAGA G 425.46 PASS AB=0.915;AC=1;AF=0.50;AN=2;BaseQRankSum=6.503;DP=86;FS=0.0;HRun=0;HaplotypeScore=1504.4186;IndelType=D;MQ=50.07;MQ0=0;MQRankSum=-5.989;QD=4.95;ReadPosRankSum=3.291;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OAZ3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418982 GT:AD:DP:GQ:PL 0/1:78,8:86:99:464,0,3581
1 151742559 . GGGAGAGGGAGACCATGGGGAGACGGAGAC G 4777.03 PASS AB=0.701;AC=1;AF=0.50;AN=2;BaseQRankSum=7.57;DP=89;FS=0.0;HRun=0;HaplotypeScore=2320.0429;IndelType=D;MQ=50.61;MQ0=0;MQRankSum=-6.57;QD=53.67;ReadPosRankSum=-0.52;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OAZ3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418982 GT:AD:DP:GQ:PL 0/1:51,38:89:99:4777,0,11456
1 151742565 rs140076465 GGGAGACCATGGGGAGACGGAGAC G 4277.46 PASS AB=0.921;AC=1;AF=0.50;AN=2;BaseQRankSum=7.92;DB;DP=93;FS=0.0;HRun=0;HaplotypeScore=2106.5769;IndelType=D;MQ=51.04;MQ0=0;MQRankSum=-6.872;QD=45.99;ReadPosRankSum=0.453;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OAZ3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418982 GT:AD:DP:GQ:PL 0/1:85,8:93:99:4277,0,10692
1 151742798 rs3748612 T C 1622.72 PASS AB=0.464;AC=1;AF=0.50;AN=2;BaseQRankSum=1.27;DB;DP=97;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.6643;MQ=58.56;MQ0=0;MQRankSum=1.834;QD=16.73;ReadPosRankSum=0.394;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OAZ3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418982 GT:AD:DP:GQ:PL 0/1:45,52:97:99:1653,0,1444
1 151743870 rs3833528 TA T 203.65 PASS AB=0.611;AC=1;AF=0.50;AN=2;BaseQRankSum=0.895;DB;DP=11;FS=0.0;HRun=2;HaplotypeScore=37.4887;IndelType=D;MQ=60.0;MQ0=0;MQRankSum=1.214;QD=18.51;ReadPosRankSum=1.818;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OAZ3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315067 GT:AD:DP:GQ:PL 0/1:4,7:11:99:243,0,105
1 151747043 rs1123855 C T 92.30 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=0.636;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.354;QD=5.77;ReadPosRankSum=-0.071;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OAZ3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315067 GT:AD:DP:GQ:PL 0/1:12,4:16:99:122,0,304
1 151747733 rs1781421 C T 221.58 PASS AB=0.619;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.919;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.471;QD=10.55;ReadPosRankSum=-0.253;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OAZ3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315067 GT:AD:DP:GQ:PL 0/1:13,8:21:99:252,0,478
1 151747799 rs1781419 G A 722.85 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.443;DB;DP=46;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=1.306;QD=15.71;ReadPosRankSum=-0.079;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OAZ3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315067 GT:AD:DP:GQ:PL 0/1:23,23:46:99:753,0,715
1 151747970 rs11204885 A G 778.34 PASS AB=0.609;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.288;DB;DP=69;Dels=0.0;FS=2.148;HRun=0;HaplotypeScore=1.9865;MQ=60.0;MQ0=0;MQRankSum=-0.389;QD=11.28;ReadPosRankSum=-0.351;SNPEFF_AMINO_ACID_CHANGE=H220;SNPEFF_CODON_CHANGE=caT/caC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_151747868_151748019;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=TDRKH;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000440583 GT:AD:DP:GQ:PL 0/1:42,27:69:99:808,0,1375
1 151748425 rs3923394 C A 470.86 PASS AB=0.514;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.733;DB;DP=35;Dels=0.0;FS=3.536;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.512;QD=13.45;ReadPosRankSum=-1.931;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OAZ3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315067 GT:AD:DP:GQ:PL 0/1:18,17:35:99:501,0,632
1 151750963 rs1996730 C T 1026.91 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.41;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=TDRKH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463553 GT:AD:DP:GQ:PL 1/1:0,29:29:78.26:1060,78,0
1 151751081 rs1996729 G A 395.13 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=2.628;DB;DP=22;Dels=0.0;FS=1.808;HRun=2;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=0.58;QD=17.96;ReadPosRankSum=-1.194;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=TDRKH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463553 GT:AD:DP:GQ:PL 0/1:8,14:22:99:425,0,258
1 151754112 rs35077383 T C 260.69 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=2.09;DB;DP=30;Dels=0.0;FS=4.624;HRun=1;HaplotypeScore=0.0;MQ=59.23;MQ0=0;MQRankSum=-0.286;QD=8.69;ReadPosRankSum=0.242;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=TDRKH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463553 GT:AD:DP:GQ:PL 0/1:20,10:30:99:291,0,621
1 151780177 rs3828057 C T 268.31 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.776;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9992;MQ=58.45;MQ0=0;MQRankSum=-0.306;QD=17.89;ReadPosRankSum=-2.756;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RORC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318247 GT:AD:DP:GQ:PL 0/1:5,10:15:99:298,0,161
1 151783688 rs939595 A C 35.83 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9894;MQ=60.0;MQ0=0;MQRankSum=0.72;QD=5.97;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RORC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318247 GT:AD:DP:GQ:PL 0/1:4,2:6:65.82:66,0,148
1 151789588 . C CTGTGTGTG 924.18 PASS AC=2;AF=1.00;AN=2;DP=11;FS=0.0;HRun=0;HaplotypeScore=123.0164;IndelType=I;MQ=36.64;MQ0=0;QD=84.02;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RORC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318247 GT:AD:DP:GQ:PL 1/1:4,7:11:24.08:966,24,0
1 151789647 rs12144914 T G 225.77 PASS AB=0.45;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.0;DB;DP=20;Dels=0.0;FS=10.843;HRun=1;HaplotypeScore=0.0;MQ=49.96;MQ0=0;MQRankSum=0.367;QD=11.29;ReadPosRankSum=0.041;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RORC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318247 GT:AD:DP:GQ:PL 0/1:9,11:20:99:256,0,263
1 151798295 rs12030974 G A 560.54 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=2.983;DB;DP=45;Dels=0.0;FS=7.562;HRun=0;HaplotypeScore=0.0;MQ=59.49;MQ0=0;MQRankSum=-0.134;QD=12.46;ReadPosRankSum=-0.377;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RORC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318247 GT:AD:DP:GQ:PL 0/1:24,21:45:99:591,0,602
1 151798372 rs111882199 G C 1014.18 PASS AB=0.448;AC=1;AF=0.50;AN=2;BaseQRankSum=0.297;DB;DP=67;Dels=0.0;FS=0.957;HRun=1;HaplotypeScore=1.6208;MQ=59.66;MQ0=0;MQRankSum=0.556;QD=15.14;ReadPosRankSum=-0.168;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RORC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318247 GT:AD:DP:GQ:PL 0/1:30,37:67:99:1044,0,860
1 151819738 . G GGGAGGCA 532.45 PASS AC=2;AF=1.00;AN=2;DP=17;FS=0.0;HRun=0;HaplotypeScore=121.3827;IndelType=I;MQ=49.92;MQ0=0;QD=31.32;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=THEM5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368817 GT:AD:DP:GQ:PL 1/1:9,7:17:22.32:574,22,0
1 151820298 rs6587624 G C 1163.82 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.38;MQ0=0;QD=31.45;SNPEFF_AMINO_ACID_CHANGE=L206V;SNPEFF_CODON_CHANGE=Ctg/Gtg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_151820214_151820338;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=THEM5;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368817 GT:AD:DP:GQ:PL 1/1:0,35:35:87.29:1197,87,0
1 151820324 rs6587625 T C 965.20 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.208;DB;DP=34;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=2.5494;MQ=59.32;MQ0=0;MQRankSum=0.988;QD=28.39;ReadPosRankSum=0.695;SNPEFF_AMINO_ACID_CHANGE=D197G;SNPEFF_CODON_CHANGE=gAc/gGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_151820214_151820338;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=THEM5;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368817 GT:AD:DP:GQ:PL 1/1:2,32:34:36.49:998,36,0
1 151825149 rs745055 C T 52.75 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=THEM5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368817 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
1 151825991 rs7556386 G T 2716.27 PASS AC=2;AF=1.00;AN=2;DB;DP=83;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.44;MQ0=0;QD=32.73;SNPEFF_AMINO_ACID_CHANGE=G17;SNPEFF_CODON_CHANGE=ggC/ggA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_151825919_151826173;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=THEM5;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000368817 GT:AD:DP:GQ:PL 1/1:0,82:83:99:2749,217,0
1 151847180 rs10749666 A G 521.16 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.74;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=THEM4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477437 GT:AD:DP:GQ:PL 1/1:0,15:15:45.14:554,45,0
1 151847193 rs11204907 A C 310.56 PASS AB=0.474;AC=1;AF=0.50;AN=2;BaseQRankSum=0.776;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9983;MQ=57.53;MQ0=0;MQRankSum=1.184;QD=16.35;ReadPosRankSum=0.449;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=THEM4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477437 GT:AD:DP:GQ:PL 0/1:9,10:19:99:341,0,296
1 151862661 rs1060870 G A 528.80 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.77;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=THEM4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000489410 GT:AD:DP:GQ:PL 1/1:0,14:14:42.13:562,42,0
1 151867560 rs3762427 G A 1552.57 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9983;MQ=51.91;MQ0=1;QD=33.75;SNPEFF_AMINO_ACID_CHANGE=D70;SNPEFF_CODON_CHANGE=gaC/gaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_151867484_151867670;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=THEM4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000368814 GT:AD:DP:GQ:PL 1/1:0,45:45:99:1586,123,0
1 152005327 rs35135981 TA T 588.98 PASS AB=0.622;AC=1;AF=0.50;AN=2;BaseQRankSum=4.375;DB;DP=28;FS=1.75;HRun=1;HaplotypeScore=69.7426;IndelType=D;MQ=59.17;MQ0=0;MQRankSum=0.282;QD=21.04;ReadPosRankSum=0.235;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=S100A11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271638 GT:AD:DP:GQ:PL 0/1:11,17:28:99:628,0,434
1 152009530 rs3811422 T C 253.40 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=55.21;MQ0=0;QD=25.34;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=S100A11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478109 GT:AD:DP:GQ:PL 1/1:0,10:10:24.06:286,24,0
1 152060796 rs2935207 A T 85.86 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=53.44;MQ0=0;QD=28.62;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TCHHL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368806 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:118,9,0
1 152081632 rs2496251 C G 2003.66 PASS AB=0.493;AC=1;AF=0.50;AN=2;BaseQRankSum=3.347;DB;DP=144;Dels=0.0;FS=3.028;HRun=2;HaplotypeScore=4.5524;MQ=59.1;MQ0=0;MQRankSum=2.85;QD=13.91;ReadPosRankSum=0.331;SNPEFF_AMINO_ACID_CHANGE=R1354P;SNPEFF_CODON_CHANGE=cGc/cCc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_152078793_152085554;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TCHH;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368804 GT:AD:DP:GQ:PL 0/1:70,72:144:99:2034,0,1942
1 152083325 rs11803731 A T 158.56 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.778;DB;DP=30;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.663;MQ=55.21;MQ0=0;MQRankSum=3.182;QD=5.29;ReadPosRankSum=0.354;SNPEFF_AMINO_ACID_CHANGE=L790M;SNPEFF_CODON_CHANGE=Ttg/Atg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_152078793_152085554;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TCHH;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368804 GT:AD:DP:GQ:PL 0/1:20,10:30:99:189,0,674
1 152085505 rs2515663 A C 827.13 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.63;SNPEFF_AMINO_ACID_CHANGE=L63R;SNPEFF_CODON_CHANGE=cTt/cGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_152078793_152085554;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TCHH;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368804 GT:AD:DP:GQ:PL 1/1:0,27:27:69.20:860,69,0
1 152185762 rs41266112 C G 1338.11 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=38.82;MQ0=0;QD=23.48;SNPEFF_AMINO_ACID_CHANGE=Q2781H;SNPEFF_CODON_CHANGE=caG/caC;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_152184558_152193966;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HRNR;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368801 GT:AD:DP:GQ:PL 1/1:0,57:57:99:1371,111,0
1 152185768 rs41266114 T G 831.73 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=32.92;MQ0=0;QD=20.29;SNPEFF_AMINO_ACID_CHANGE=S2779;SNPEFF_CODON_CHANGE=tcA/tcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_152184558_152193966;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HRNR;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000368801 GT:AD:DP:GQ:PL 1/1:0,41:41:75.20:865,75,0
1 152185774 rs61814932 A G 643.59 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=30.54;MQ0=0;QD=17.39;SNPEFF_AMINO_ACID_CHANGE=S2777;SNPEFF_CODON_CHANGE=tcT/tcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_152184558_152193966;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HRNR;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000368801 GT:AD:DP:GQ:PL 1/1:0,37:37:60.16:677,60,0
1 152185780 rs41266116 G A 463.22 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=29.42;MQ0=0;QD=15.44;SNPEFF_AMINO_ACID_CHANGE=H2775;SNPEFF_CODON_CHANGE=caC/caT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_152184558_152193966;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HRNR;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000368801 GT:AD:DP:GQ:PL 1/1:0,30:30:45.10:496,45,0
1 152185790 rs76102381 T C 158.13 MQFilter40;SnpCluster AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=27.58;MQ0=0;QD=9.3;SNPEFF_AMINO_ACID_CHANGE=H2772R;SNPEFF_CODON_CHANGE=cAc/cGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_152184558_152193966;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HRNR;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368801 GT:AD:DP:GQ:PL 1/1:0,17:17:18.04:191,18,0
1 152185792 rs74493243 G A 201.10 MQFilter40;SnpCluster AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=27.58;MQ0=0;QD=11.83;SNPEFF_AMINO_ACID_CHANGE=S2771;SNPEFF_CODON_CHANGE=agC/agT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_152184558_152193966;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HRNR;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000368801 GT:AD:DP:GQ:PL 1/1:0,17:17:21.06:234,21,0
1 152185796 rs41266118 A G 201.10 MQFilter40;SnpCluster AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=27.58;MQ0=0;QD=11.83;SNPEFF_AMINO_ACID_CHANGE=L2770P;SNPEFF_CODON_CHANGE=cTt/cCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_152184558_152193966;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HRNR;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368801 GT:AD:DP:GQ:PL 1/1:0,17:17:21.06:234,21,0
1 152186141 rs41266128 C T 146.40 MQFilter40;QDFilter2 AC=2;AF=1.00;AN=2;DB;DP=250;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=3.66;MQ0=236;QD=0.59;SNPEFF_AMINO_ACID_CHANGE=R2655H;SNPEFF_CODON_CHANGE=cGc/cAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_152184558_152193966;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HRNR;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368801 GT:AD:DP:GQ:PL 1/1:227,23:250:23.88:179,24,0
1 152186766 rs4845747 G A 743.01 MQFilter40 AB=0.632;AC=1;AF=0.50;AN=2;BaseQRankSum=2.504;DB;DP=250;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=14.21;MQ0=143;MQRankSum=-0.624;QD=2.97;ReadPosRankSum=1.193;SNPEFF_AMINO_ACID_CHANGE=R2447C;SNPEFF_CODON_CHANGE=Cgt/Tgt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_152184558_152193966;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HRNR;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368801 GT:AD:DP:GQ:PL 0/1:158,92:250:99:773,0,1147
1 152187554 rs61814935 C T 236.30 MQFilter40;QDFilter2 AB=0.669;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.543;DB;DP=250;DS;Dels=0.0;FS=7.782;HRun=1;HaplotypeScore=2.7979;MQ=12.78;MQ0=105;MQRankSum=0.757;QD=0.95;ReadPosRankSum=1.964;SNPEFF_AMINO_ACID_CHANGE=S2184N;SNPEFF_CODON_CHANGE=aGc/aAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_152184558_152193966;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HRNR;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368801 GT:AD:DP:GQ:PL 0/1:164,81:250:99:266,0,726
1 152187562 rs61814936 A C 999.86 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=250;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.8613;MQ=10.3;MQ0=108;QD=4.0;SNPEFF_AMINO_ACID_CHANGE=H2181Q;SNPEFF_CODON_CHANGE=caT/caG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_152184558_152193966;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HRNR;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368801 GT:AD:DP:GQ:PL 1/1:2,246:250:99:1033,137,0
1 152187810 rs145371085 G A 105.59 MQFilter40;QDFilter2 AC=2;AF=1.00;AN=2;BaseQRankSum=2.787;DB;DP=122;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=8.07;MQ0=89;MQRankSum=-2.849;QD=0.87;ReadPosRankSum=0.72;SNPEFF_AMINO_ACID_CHANGE=P2099S;SNPEFF_CODON_CHANGE=Cct/Tct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_152184558_152193966;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HRNR;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368801 GT:AD:DP:GQ:PL 1/1:3,119:122:0.20:134,0,0
1 152187935 rs61814938 C T 101.98 MQFilter40;QDFilter2 AB=0.691;AC=1;AF=0.50;AN=2;BaseQRankSum=1.093;DB;DP=250;DS;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.7333;MQ=14.56;MQ0=99;MQRankSum=-4.207;QD=0.41;ReadPosRankSum=-1.199;SNPEFF_AMINO_ACID_CHANGE=R2057Q;SNPEFF_CODON_CHANGE=cGa/cAa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_152184558_152193966;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HRNR;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368801 GT:AD:DP:GQ:PL 0/1:172,77:250:99:132,0,1231
1 152187945 rs61814939 C T 326.96 MQFilter40;QDFilter2 AB=0.58;AC=1;AF=0.50;AN=2;BaseQRankSum=1.626;DB;DP=250;DS;Dels=0.0;FS=7.258;HRun=0;HaplotypeScore=1.445;MQ=16.36;MQ0=86;MQRankSum=-0.608;QD=1.31;ReadPosRankSum=-1.357;SNPEFF_AMINO_ACID_CHANGE=G2054S;SNPEFF_CODON_CHANGE=Ggc/Agc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_152184558_152193966;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HRNR;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368801 GT:AD:DP:GQ:PL 0/1:145,105:250:99:357,0,861
1 152188109 rs61814940 T A 661.15 MQFilter40 AB=0.624;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.29;DB;DP=250;DS;Dels=0.0;FS=19.457;HRun=0;HaplotypeScore=10.2932;MQ=15.43;MQ0=81;MQRankSum=0.525;QD=2.64;ReadPosRankSum=-0.481;SNPEFF_AMINO_ACID_CHANGE=Q1999L;SNPEFF_CODON_CHANGE=cAg/cTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_152184558_152193966;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HRNR;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368801 GT:AD:DP:GQ:PL 0/1:156,94:250:99:691,0,977
1 152188176 rs147618491 G A 171.34 MQFilter40;QDFilter2 AB=0.734;AC=1;AF=0.50;AN=2;BaseQRankSum=2.876;DB;DP=250;DS;Dels=0.0;FS=0.771;HRun=0;HaplotypeScore=5.5009;MQ=23.85;MQ0=40;MQRankSum=-1.492;QD=0.69;ReadPosRankSum=1.694;SNPEFF_AMINO_ACID_CHANGE=R1977C;SNPEFF_CODON_CHANGE=Cgt/Tgt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_152184558_152193966;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HRNR;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368801 GT:AD:DP:GQ:PL 0/1:182,66:250:99:201,0,3826
1 152188319 . C T 231.23 MQFilter40;QDFilter2 AB=0.872;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.888;DP=250;DS;Dels=0.0;FS=5.472;HRun=0;HaplotypeScore=1.6281;MQ=29.69;MQ0=17;MQRankSum=0.156;QD=0.92;ReadPosRankSum=-0.465;SNPEFF_AMINO_ACID_CHANGE=G1929D;SNPEFF_CODON_CHANGE=gGc/gAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_152184558_152193966;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HRNR;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368801 GT:AD:DP:GQ:PL 0/1:218,32:250:99:261,0,4835
1 152188463 rs61814941 G A 889.29 MQFilter40 AB=0.744;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.583;DB;DP=250;DS;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=3.7912;MQ=33.13;MQ0=8;MQRankSum=1.314;QD=3.56;ReadPosRankSum=0.109;SNPEFF_AMINO_ACID_CHANGE=S1881F;SNPEFF_CODON_CHANGE=tCc/tTc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_152184558_152193966;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HRNR;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368801 GT:AD:DP:GQ:PL 0/1:186,64:250:99:919,0,4948
1 152188964 rs78582525 C T 270.96 MQFilter40;QDFilter2 AB=0.828;AC=1;AF=0.50;AN=2;BaseQRankSum=0.468;DB;DP=250;DS;Dels=0.0;FS=0.801;HRun=1;HaplotypeScore=2.96;MQ=14.7;MQ0=118;MQRankSum=0.812;QD=1.08;ReadPosRankSum=-0.536;SNPEFF_AMINO_ACID_CHANGE=S1714N;SNPEFF_CODON_CHANGE=aGc/aAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_152184558_152193966;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HRNR;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368801 GT:AD:DP:GQ:PL 0/1:207,43:250:99:301,0,2076
1 152188998 rs80018286 C T 201.52 MQFilter40;QDFilter2 AB=0.791;AC=1;AF=0.50;AN=2;BaseQRankSum=3.35;DB;DP=250;DS;Dels=0.0;FS=2.016;HRun=0;HaplotypeScore=0.0;MQ=13.55;MQ0=138;MQRankSum=1.044;QD=0.81;ReadPosRankSum=1.291;SNPEFF_AMINO_ACID_CHANGE=G1703S;SNPEFF_CODON_CHANGE=Ggc/Agc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_152184558_152193966;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HRNR;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368801 GT:AD:DP:GQ:PL 0/1:197,52:250:99:232,0,1732
1 152190720 rs7514457 C T 170.10 MQFilter40;QDFilter2 AC=2;AF=1.00;AN=2;DB;DP=250;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=5.09;MQ0=223;QD=0.68;SNPEFF_AMINO_ACID_CHANGE=G1129S;SNPEFF_CODON_CHANGE=Ggc/Agc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_152184558_152193966;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HRNR;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368801 GT:AD:DP:GQ:PL 1/1:206,43:250:23.94:203,24,0
1 152190880 . G A 2448.94 MQFilter40 AB=0.546;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.051;DP=250;DS;Dels=0.0;FS=1.123;HRun=0;HaplotypeScore=4.414;MQ=32.23;MQ0=36;MQRankSum=0.663;QD=9.8;ReadPosRankSum=1.34;SNPEFF_AMINO_ACID_CHANGE=T1075;SNPEFF_CODON_CHANGE=acC/acT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_152184558_152193966;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HRNR;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000368801 GT:AD:DP:GQ:PL 0/1:136,113:250:99:2479,0,2278
1 152191709 rs6662450 C G 2078.42 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.675;DB;DP=62;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.848;MQ=60.0;MQ0=0;MQRankSum=1.675;QD=33.52;ReadPosRankSum=-1.619;SNPEFF_AMINO_ACID_CHANGE=S799T;SNPEFF_CODON_CHANGE=aGt/aCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_152184558_152193966;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HRNR;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368801 GT:AD:DP:GQ:PL 1/1:1,60:62:99:2111,134,0
1 152191879 rs10788828 G A 4605.45 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.95;DB;DP=133;Dels=0.0;FS=2.876;HRun=0;HaplotypeScore=2.453;MQ=59.64;MQ0=0;MQRankSum=-0.083;QD=34.63;ReadPosRankSum=-0.786;SNPEFF_AMINO_ACID_CHANGE=H742;SNPEFF_CODON_CHANGE=caC/caT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_152184558_152193966;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HRNR;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000368801 GT:AD:DP:GQ:PL 1/1:2,131:133:99:4605,276,0
1 152192114 rs7520249 C T 6180.67 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.212;DB;DP=188;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=3.065;MQ=55.41;MQ0=3;MQRankSum=4.478;QD=32.88;ReadPosRankSum=3.285;SNPEFF_AMINO_ACID_CHANGE=R664Q;SNPEFF_CODON_CHANGE=cGa/cAa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_152184558_152193966;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HRNR;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368801 GT:AD:DP:GQ:PL 1/1:10,178:188:99:6181,463,0
1 152192293 rs7520375 C T 6149.16 PASS AC=2;AF=1.00;AN=2;DB;DP=211;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.7851;MQ=41.31;MQ0=0;QD=29.14;SNPEFF_AMINO_ACID_CHANGE=S604;SNPEFF_CODON_CHANGE=tcG/tcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_152184558_152193966;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HRNR;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000368801 GT:AD:DP:GQ:PL 1/1:0,210:211:99:6149,505,0
1 152192631 rs6587647 C T 7616.50 PASS AC=2;AF=1.00;AN=2;DB;DP=215;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=5.0846;MQ=59.14;MQ0=0;QD=35.43;SNPEFF_AMINO_ACID_CHANGE=G492R;SNPEFF_CODON_CHANGE=Gga/Aga;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_152184558_152193966;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HRNR;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368801 GT:AD:DP:GQ:PL 1/1:0,214:215:99:7616,554,0
1 152192687 rs6587648 T C 5838.62 PASS AC=2;AF=1.00;AN=2;DB;DP=178;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.3123;MQ=59.33;MQ0=0;QD=32.8;SNPEFF_AMINO_ACID_CHANGE=E473G;SNPEFF_CODON_CHANGE=gAg/gGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_152184558_152193966;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HRNR;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368801 GT:AD:DP:GQ:PL 1/1:0,177:178:99:5839,445,0
1 152192825 rs6666097 C T 2322.10 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.35;MQ0=0;QD=36.28;SNPEFF_AMINO_ACID_CHANGE=G427D;SNPEFF_CODON_CHANGE=gGc/gAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_152184558_152193966;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HRNR;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368801 GT:AD:DP:GQ:PL 1/1:0,63:64:99:2355,181,0
1 152192978 rs6587649 T C 3433.73 PASS AC=2;AF=1.00;AN=2;DB;DP=102;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.77;MQ0=0;QD=33.66;SNPEFF_AMINO_ACID_CHANGE=Q376R;SNPEFF_CODON_CHANGE=cAa/cGa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_152184558_152193966;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HRNR;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368801 GT:AD:DP:GQ:PL 1/1:0,102:102:99:3434,265,0
1 152193052 rs6587650 A G 3016.04 PASS AC=2;AF=1.00;AN=2;DB;DP=93;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=59.55;MQ0=0;QD=32.43;SNPEFF_AMINO_ACID_CHANGE=H351;SNPEFF_CODON_CHANGE=caT/caC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_152184558_152193966;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HRNR;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000368801 GT:AD:DP:GQ:PL 1/1:0,93:93:99:3049,232,0
1 152193121 rs6587651 G T 3107.92 PASS AC=2;AF=1.00;AN=2;DB;DP=84;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9993;MQ=59.45;MQ0=0;QD=37.0;SNPEFF_AMINO_ACID_CHANGE=G328;SNPEFF_CODON_CHANGE=ggC/ggA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_152184558_152193966;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HRNR;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000368801 GT:AD:DP:GQ:PL 1/1:0,84:84:99:3141,241,0
1 152193286 rs7545406 G T 7934.52 PASS AC=2;AF=1.00;AN=2;DB;DP=235;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=3.3622;MQ=59.41;MQ0=0;QD=33.76;SNPEFF_AMINO_ACID_CHANGE=H273Q;SNPEFF_CODON_CHANGE=caC/caA;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_152184558_152193966;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HRNR;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368801 GT:AD:DP:GQ:PL 1/1:0,235:235:99:7935,590,0
1 152193291 rs6587652 G T 8017.79 PASS AC=2;AF=1.00;AN=2;DB;DP=234;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=2.4955;MQ=59.41;MQ0=0;QD=34.26;SNPEFF_AMINO_ACID_CHANGE=R272;SNPEFF_CODON_CHANGE=Cga/Aga;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_152184558_152193966;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HRNR;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000368801 GT:AD:DP:GQ:PL 1/1:0,234:234:99:8018,602,0
1 152193544 rs7535536 A G 2866.54 PASS AC=2;AF=1.00;AN=2;DB;DP=80;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.36;MQ0=0;QD=35.83;SNPEFF_AMINO_ACID_CHANGE=H187;SNPEFF_CODON_CHANGE=caT/caC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_152184558_152193966;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HRNR;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000368801 GT:AD:DP:GQ:PL 1/1:0,80:80:99:2900,223,0
1 152193547 rs6587653 G A 2792.80 PASS AC=2;AF=1.00;AN=2;DB;DP=80;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.36;MQ0=0;QD=34.91;SNPEFF_AMINO_ACID_CHANGE=S186;SNPEFF_CODON_CHANGE=tcC/tcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_152184558_152193966;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HRNR;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000368801 GT:AD:DP:GQ:PL 1/1:0,80:80:99:2826,220,0
1 152193851 rs11204937 C T 1860.98 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.98;SNPEFF_AMINO_ACID_CHANGE=R85H;SNPEFF_CODON_CHANGE=cGt/cAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_152184558_152193966;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HRNR;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368801 GT:AD:DP:GQ:PL 1/1:0,49:49:99:1894,144,0
1 152193990 rs11204938 A G 1267.18 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.4;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HRNR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368801 GT:AD:DP:GQ:PL 1/1:0,33:33:99:1300,99,0
1 152195728 rs80268284 AT A 1077.79 PASS AC=2;AF=1.00;AN=2;DB;DP=51;FS=0.0;HRun=11;HaplotypeScore=134.6001;IndelType=D;MQ=59.71;MQ0=0;QD=21.13;SNPEFF_EFFECT=FRAME_SHIFT;SNPEFF_EXON_ID=exon_1_152195592_152195754;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HRNR;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000368801 GT:AD:DP:GQ:PL 1/1:3,46:51:99:1120,139,0
1 152195851 rs71714598 TAGTC T 234.34 PASS AC=2;AF=1.00;AN=2;DB;DP=6;FS=0.0;HRun=0;HaplotypeScore=33.2338;IndelType=D;MQ=51.77;MQ0=0;QD=39.06;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HRNR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368801 GT:AD:DP:GQ:PL 1/1:1,5:6:15.05:276,15,0
1 152278434 rs61816760 T G 76.66 MQFilter40;QDFilter2 AB=0.544;AC=1;AF=0.50;AN=2;BaseQRankSum=0.271;DB;DP=250;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=6.46;MQ0=237;MQRankSum=0.533;QD=0.31;ReadPosRankSum=0.696;SNPEFF_AMINO_ACID_CHANGE=E2976D;SNPEFF_CODON_CHANGE=gaA/gaC;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_152274651_152287223;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FLG;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368799 GT:AD:DP:GQ:PL 0/1:136,114:250:99:107,0,198
1 152279406 rs192116923 T G 73.77 MQFilter40;QDFilter2 AB=0.614;AC=1;AF=0.50;AN=2;BaseQRankSum=1.568;DB;DP=249;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=6.44;MQ0=240;MQRankSum=-1.447;QD=0.3;ReadPosRankSum=-0.365;SNPEFF_AMINO_ACID_CHANGE=E2652D;SNPEFF_CODON_CHANGE=gaA/gaC;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_152274651_152287223;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FLG;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368799 GT:AD:DP:GQ:PL 0/1:153,96:249:99:104,0,194
1 152280014 . A G 2022.41 PASS AB=0.514;AC=1;AF=0.50;AN=2;BaseQRankSum=1.825;DP=145;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.4725;MQ=56.03;MQ0=0;MQRankSum=2.056;QD=13.95;ReadPosRankSum=0.546;SNPEFF_AMINO_ACID_CHANGE=S2450P;SNPEFF_CODON_CHANGE=Tcc/Ccc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_152274651_152287223;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FLG;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368799 GT:AD:DP:GQ:PL 0/1:74,70:145:99:2052,0,2370
1 152287341 rs67992390 C CT 93.92 PASS AB=0.739;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.954;DB;DP=17;FS=0.0;HRun=12;HaplotypeScore=57.7439;IndelType=I;MQ=60.63;MQ0=0;MQRankSum=-0.377;QD=5.52;ReadPosRankSum=-1.493;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FLG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368799 GT:AD:DP:GQ:PL 0/1:10,6:17:99:133,0,99
1 152384498 rs3215709 G GT 608.41 PASS AB=0.724;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.354;DB;DP=42;FS=1.67;HRun=0;HaplotypeScore=96.9282;IndelType=I;MQ=60.26;MQ0=0;MQRankSum=0.704;QD=14.49;ReadPosRankSum=0.207;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRNN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271835 GT:AD:DP:GQ:PL 0/1:26,16:42:99:647,0,887
1 152384833 rs1923492 T C 234.07 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.18;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.45;MQ0=0;MQRankSum=1.355;QD=15.6;ReadPosRankSum=-1.237;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRNN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271835 GT:AD:DP:GQ:PL 0/1:6,9:15:99:264,0,213
1 152484129 rs2105117 G A 1008.36 PASS AB=0.519;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.143;DB;DP=77;Dels=0.0;FS=0.884;HRun=0;HaplotypeScore=0.9665;MQ=53.7;MQ0=0;MQRankSum=0.8;QD=13.1;ReadPosRankSum=-2.474;SNPEFF_AMINO_ACID_CHANGE=C40Y;SNPEFF_CODON_CHANGE=tGt/tAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_152483990_152484653;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LCE5A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000334269 GT:AD:DP:GQ:PL 0/1:40,37:77:99:1038,0,1123
1 152487979 rs2282296 C T 243.50 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=3.366;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.83;MQ0=0;MQRankSum=0.15;QD=15.22;ReadPosRankSum=1.22;SNPEFF_AMINO_ACID_CHANGE=C40;SNPEFF_CODON_CHANGE=tgC/tgT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_152487838_152488486;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRCT1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000368790 GT:AD:DP:GQ:PL 0/1:8,8:16:99:273,0,192
1 152488063 rs1053588 C T 109.56 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=0.361;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.729;QD=12.17;ReadPosRankSum=1.307;SNPEFF_AMINO_ACID_CHANGE=R68;SNPEFF_CODON_CHANGE=cgC/cgT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_152487838_152488486;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRCT1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000368790 GT:AD:DP:GQ:PL 0/1:4,5:9:99:140,0,125
1 152538358 rs17659359 G C 519.02 PASS AB=0.63;AC=1;AF=0.50;AN=2;BaseQRankSum=1.514;DB;DP=54;Dels=0.0;FS=1.128;HRun=0;HaplotypeScore=0.0;MQ=59.65;MQ0=0;MQRankSum=0.618;QD=9.61;ReadPosRankSum=-0.278;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LCE3E;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368789 GT:AD:DP:GQ:PL 0/1:34,20:54:99:549,0,1012
1 152538636 . G A 875.54 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.756;DP=61;Dels=0.0;FS=2.342;HRun=0;HaplotypeScore=1.9157;MQ=57.91;MQ0=0;MQRankSum=-0.299;QD=14.35;ReadPosRankSum=-0.054;SNPEFF_AMINO_ACID_CHANGE=P17S;SNPEFF_CODON_CHANGE=Ccc/Tcc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_152538130_152538705;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LCE3E;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368789 GT:AD:DP:GQ:PL 0/1:25,35:61:99:906,0,738
1 152552461 rs4845313 C A 1661.92 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.6313;MQ=54.96;MQ0=0;QD=34.62;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LCE3D;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368787 GT:AD:DP:GQ:PL 1/1:0,48:48:99:1695,129,0
1 152681543 rs1332496 T C 3167.32 PASS AC=2;AF=1.00;AN=2;DB;DP=103;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=57.02;MQ0=0;QD=30.75;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_1_152681523_152681910;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LCE4A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000335535 GT:AD:DP:GQ:PL 1/1:0,102:103:99:3200,256,0
1 152681680 rs6143428 C CAGCTCTGGGGGCTGCTGT 6174.53 PASS AB=0.838;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.383;DB;DP=114;FS=3.111;HRun=0;HaplotypeScore=1329.0882;IndelType=I;MQ=54.23;MQ0=0;MQRankSum=-5.734;QD=54.16;ReadPosRankSum=-0.45;SNPEFF_AMINO_ACID_CHANGE=-44SSGGCC;SNPEFF_CODON_CHANGE=-/AGCTCTGGGGGCTGCTGT;SNPEFF_EFFECT=CODON_INSERTION;SNPEFF_EXON_ID=exon_1_152681523_152681910;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LCE4A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000335535 GT:AD:DP:GQ:PL 0/1:92,18:114:99:6175,0,7285
1 152732106 rs17612167 A T 3012.08 PASS AC=2;AF=1.00;AN=2;DB;DP=87;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=59.2;MQ0=0;QD=34.62;SNPEFF_AMINO_ACID_CHANGE=Q14H;SNPEFF_CODON_CHANGE=caA/caT;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_152732037_152734529;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KPRP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368773 GT:AD:DP:GQ:PL 1/1:0,87:87:99:3045,226,0
1 152749091 rs41268480 C T 2078.73 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.23;SNPEFF_AMINO_ACID_CHANGE=R82W;SNPEFF_CODON_CHANGE=Cgg/Tgg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_152748848_152749445;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LCE1F;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000334371 GT:AD:DP:GQ:PL 1/1:0,59:59:99:2112,163,0
1 152760106 rs56313719 G A 287.98 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=0.896;DB;DP=60;Dels=0.0;FS=6.522;HRun=0;HaplotypeScore=0.0;MQ=51.51;MQ0=1;MQRankSum=0.444;QD=4.8;ReadPosRankSum=0.009;SNPEFF_AMINO_ACID_CHANGE=G111S;SNPEFF_CODON_CHANGE=Ggc/Agc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_152759754_152760902;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LCE1E;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368770 GT:AD:DP:GQ:PL 0/1:42,18:60:99:318,0,1208
1 152944156 rs6671520 C T 832.28 PASS AB=0.273;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.192;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.02;QD=25.22;ReadPosRankSum=0.384;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPRR4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328051 GT:AD:DP:GQ:PL 0/1:9,24:33:99:862,0,273
1 152944594 rs3170863 C T 621.61 PASS AB=0.523;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.574;DB;DP=44;Dels=0.0;FS=1.595;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.376;QD=14.13;ReadPosRankSum=-0.141;SNPEFF_AMINO_ACID_CHANGE=S76;SNPEFF_CODON_CHANGE=agC/agT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_152944347_152945050;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPRR4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000328051 GT:AD:DP:GQ:PL 0/1:23,21:44:99:652,0,776
1 152957573 rs1611760 T C 320.93 PASS AB=0.474;AC=1;AF=0.50;AN=2;BaseQRankSum=2.817;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.78;MQ0=0;MQRankSum=0.531;QD=16.89;ReadPosRankSum=0.286;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPRR1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307122 GT:AD:DP:GQ:PL 0/1:9,10:19:99:351,0,285
1 152957832 rs1611762 C A 1855.36 PASS AB=0.431;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.35;DB;DP=130;Dels=0.0;FS=0.663;HRun=1;HaplotypeScore=2.8047;MQ=58.64;MQ0=0;MQRankSum=-0.708;QD=14.27;ReadPosRankSum=1.861;SNPEFF_AMINO_ACID_CHANGE=H42Q;SNPEFF_CODON_CHANGE=caC/caA;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_152957688_152958289;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPRR1A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000307122 GT:AD:DP:GQ:PL 0/1:56,74:130:99:1885,0,1590
1 152957887 rs1611764 G A 1797.48 PASS AB=0.379;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.553;DB;DP=103;Dels=0.0;FS=1.723;HRun=0;HaplotypeScore=1.4679;MQ=59.1;MQ0=0;MQRankSum=1.868;QD=17.45;ReadPosRankSum=-0.032;SNPEFF_AMINO_ACID_CHANGE=V61I;SNPEFF_CODON_CHANGE=Gtt/Att;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_152957688_152958289;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPRR1A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000307122 GT:AD:DP:GQ:PL 0/1:39,64:103:99:1827,0,1093
1 153190590 rs71582293 G GT 910.05 PASS AB=0.68;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.625;DB;DP=68;FS=0.0;HRun=7;HaplotypeScore=152.1867;IndelType=I;MQ=60.48;MQ0=0;MQRankSum=0.917;QD=13.38;ReadPosRankSum=-1.969;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRR9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368744 GT:AD:DP:GQ:PL 0/1:36,32:68:99:949,0,787
1 153233488 . C CGGCGGT 548.38 PASS AB=0.731;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.586;DP=19;FS=0.0;HRun=0;HaplotypeScore=94.8996;IndelType=I;MQ=52.89;MQ0=0;MQRankSum=-2.489;QD=28.86;ReadPosRankSum=1.122;SNPEFF_AMINO_ACID_CHANGE=-22GG;SNPEFF_CODON_CHANGE=-/GGCGGT;SNPEFF_EFFECT=CODON_INSERTION;SNPEFF_EXON_ID=exon_1_153233403_153234598;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LOR;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368742 GT:AD:DP:GQ:PL 0/1:12,7:19:99:587,0,556
1 153233578 rs1143389 C T 111.87 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=2.219;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=54.65;MQ0=0;MQRankSum=0.361;QD=12.43;ReadPosRankSum=-2.219;SNPEFF_AMINO_ACID_CHANGE=C51;SNPEFF_CODON_CHANGE=tgC/tgT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_153233403_153234598;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LOR;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000368742 GT:AD:DP:GQ:PL 0/1:5,4:9:71.71:142,0,72
1 153234295 rs12043009 G A 107.67 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.381;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=50.39;MQ0=0;MQRankSum=0.437;QD=8.28;ReadPosRankSum=1.67;SNPEFF_AMINO_ACID_CHANGE=E290K;SNPEFF_CODON_CHANGE=Gag/Aag;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_153234112_153234593;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LOR;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000392652 GT:AD:DP:GQ:PL 0/1:8,5:13:99:138,0,266
1 153283004 rs821423 C T 4999.54 PASS AC=2;AF=1.00;AN=2;DB;DP=135;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.03;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PGLYRP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000290722 GT:AD:DP:GQ:PL 1/1:0,135:135:99:5000,373,0
1 153283179 rs3006473 A G 3121.51 PASS AC=2;AF=1.00;AN=2;DB;DP=87;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9997;MQ=59.74;MQ0=0;QD=35.88;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_1_153283087_153283194;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PGLYRP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000290722 GT:AD:DP:GQ:PL 1/1:0,87:87:99:3155,235,0
1 153309754 rs184556258 G A 611.99 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.671;DB;DP=36;Dels=0.0;FS=3.39;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.321;QD=17.0;ReadPosRankSum=-0.143;SNPEFF_AMINO_ACID_CHANGE=G278;SNPEFF_CODON_CHANGE=ggC/ggT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_153309657_153309775;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PGLYRP4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000368739 GT:AD:DP:GQ:PL 0/1:16,20:36:99:642,0,505
1 153309981 rs12139503 G A 84.43 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PGLYRP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359650 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:116,9,0
1 153312644 rs2771122 A G 42.72 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.36;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PGLYRP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000490266 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:74,6,0
1 153313912 rs3014859 A G 309.94 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.44;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PGLYRP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000490266 GT:AD:DP:GQ:PL 1/1:0,9:9:27.08:343,27,0
1 153314153 rs3006448 C A 2571.18 PASS AC=2;AF=1.00;AN=2;DB;DP=73;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.88;MQ0=0;QD=35.22;SNPEFF_AMINO_ACID_CHANGE=G188V;SNPEFF_CODON_CHANGE=gGg/gTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_153314103_153314255;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PGLYRP4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368739 GT:AD:DP:GQ:PL 1/1:0,73:73:99:2604,199,0
1 153314347 rs3006449 C T 368.87 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.53;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PGLYRP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000490266 GT:AD:DP:GQ:PL 1/1:0,11:11:30.10:402,30,0
1 153315467 rs5777858 T TAAG 1291.64 PASS AC=2;AF=1.00;AN=2;DB;DP=21;FS=0.0;HRun=0;HaplotypeScore=63.6346;IndelType=I;MQ=54.18;MQ0=0;QD=61.51;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PGLYRP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000490266 GT:AD:DP:GQ:PL 1/1:3,17:21:60.21:1334,60,0
1 153315579 rs3014863 A G 1600.60 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.19;MQ0=0;QD=32.67;SNPEFF_AMINO_ACID_CHANGE=F149;SNPEFF_CODON_CHANGE=ttT/ttC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_153315566_153315684;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PGLYRP4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000368739 GT:AD:DP:GQ:PL 1/1:0,49:49:99:1634,132,0
1 153315784 rs1865234 T C 526.73 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.92;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PGLYRP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000490266 GT:AD:DP:GQ:PL 1/1:0,16:16:42.13:560,42,0
1 153320334 rs3006457 T C 764.79 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.41;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PGLYRP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359650 GT:AD:DP:GQ:PL 1/1:0,26:26:60.19:798,60,0
1 153320372 rs3006458 T G 1218.49 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.85;SNPEFF_AMINO_ACID_CHANGE=I13L;SNPEFF_CODON_CHANGE=Atc/Ctc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_153320360_153320454;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PGLYRP4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000359650 GT:AD:DP:GQ:PL 1/1:0,36:36:93.29:1251,93,0
1 153320581 rs3006459 T C 87.24 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.08;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PGLYRP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359650 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:119,9,0
1 153411371 rs111530393 T C 107.18 PASS AB=0.3;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.573;DB;DP=10;Dels=0.0;FS=3.01;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.001;QD=10.72;ReadPosRankSum=-1.001;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=S100A7L2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368724 GT:AD:DP:GQ:PL 0/1:3,7:10:99:137,0,105
1 153431406 rs3014837 C G 1293.66 PASS AB=0.525;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.818;DB;DP=101;Dels=0.0;FS=6.352;HRun=0;HaplotypeScore=0.0;MQ=59.63;MQ0=0;MQRankSum=0.587;QD=12.81;ReadPosRankSum=-0.725;SNPEFF_AMINO_ACID_CHANGE=E28D;SNPEFF_CODON_CHANGE=gaG/gaC;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_153431349_153431506;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=S100A7;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368722 GT:AD:DP:GQ:PL 0/1:53,48:101:99:1324,0,1703
1 153509892 rs2248745 A G 477.21 PASS AB=0.61;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.436;DB;DP=59;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.61;MQ0=0;MQRankSum=-2.014;QD=8.09;ReadPosRankSum=1.354;SNPEFF_AMINO_ACID_CHANGE=D53;SNPEFF_CODON_CHANGE=gaT/gaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_153509633_153509912;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=S100A5;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000368717 GT:AD:DP:GQ:PL 0/1:36,23:59:99:507,0,1088
1 153512347 rs4017737 A G 64.17 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=12.83;ReadPosRankSum=0.358;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=S100A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354332 GT:AD:DP:GQ:PL 0/1:2,3:5:65.60:94,0,66
1 153517092 rs138957616 GC G 615.12 PASS AB=0.719;AC=1;AF=0.50;AN=2;BaseQRankSum=4.495;DB;DP=46;FS=2.527;HRun=4;HaplotypeScore=139.6283;IndelType=D;MQ=60.0;MQ0=0;MQRankSum=-0.505;QD=13.37;ReadPosRankSum=-0.223;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=S100A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368712 GT:AD:DP:GQ:PL 0/1:28,18:46:99:654,0,792
1 153517172 rs1050923 T C 829.17 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=1.644;DB;DP=64;Dels=0.0;FS=2.234;HRun=0;HaplotypeScore=0.9999;MQ=59.35;MQ0=0;MQRankSum=1.387;QD=12.96;ReadPosRankSum=1.468;SNPEFF_AMINO_ACID_CHANGE=E22;SNPEFF_CODON_CHANGE=gaA/gaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_153517130_153517285;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=S100A4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000545360 GT:AD:DP:GQ:PL 0/1:36,28:64:99:859,0,1055
1 153520138 rs41265162 C T 651.28 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.96;DB;DP=44;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.5774;MQ=60.0;MQ0=0;MQRankSum=-0.645;QD=14.8;ReadPosRankSum=1.162;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=S100A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368714 GT:AD:DP:GQ:PL 0/1:22,22:44:99:681,0,707
1 153520203 rs41265164 G A 1011.20 PASS AB=0.568;AC=1;AF=0.50;AN=2;BaseQRankSum=4.514;DB;DP=88;Dels=0.0;FS=6.091;HRun=0;HaplotypeScore=0.7887;MQ=59.53;MQ0=0;MQRankSum=1.031;QD=11.49;ReadPosRankSum=-0.526;SNPEFF_AMINO_ACID_CHANGE=H87;SNPEFF_CODON_CHANGE=caC/caT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_153519989_153520322;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=S100A3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000368712 GT:AD:DP:GQ:PL 0/1:50,38:88:99:1041,0,1258
1 153520400 rs56089062 T C 159.65 PASS AB=0.692;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.194;DB;DP=26;Dels=0.0;FS=5.119;HRun=2;HaplotypeScore=0.5784;MQ=59.11;MQ0=0;MQRankSum=-0.25;QD=6.14;ReadPosRankSum=-0.361;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=S100A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368712 GT:AD:DP:GQ:PL 0/1:18,8:26:99:190,0,668
1 153520520 rs56350425 T C 118.23 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.731;DB;DP=5;Dels=0.0;FS=6.99;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.731;QD=23.65;ReadPosRankSum=-0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=S100A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368712 GT:AD:DP:GQ:PL 0/1:1,4:5:27.18:148,0,27
1 153520714 rs112623078 T TC 345.24 PASS AB=0.711;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.934;DB;DP=27;FS=9.455;HRun=5;HaplotypeScore=106.8228;IndelType=I;MQ=59.55;MQ0=0;MQRankSum=0.882;QD=12.79;ReadPosRankSum=0.104;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=S100A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368712 GT:AD:DP:GQ:PL 0/1:16,11:27:99:384,0,462
1 153520784 rs28718953 C A 703.20 PASS AB=0.451;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.927;DB;DP=51;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=56.98;MQ0=0;MQRankSum=1.46;QD=13.79;ReadPosRankSum=0.058;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=S100A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368712 GT:AD:DP:GQ:PL 0/1:23,28:51:99:733,0,785
1 153520790 rs28594230 G C 720.98 PASS AB=0.442;AC=1;AF=0.50;AN=2;BaseQRankSum=1.467;DB;DP=52;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.367;MQ=57.04;MQ0=0;MQRankSum=-0.142;QD=13.86;ReadPosRankSum=0.009;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=S100A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368712 GT:AD:DP:GQ:PL 0/1:23,29:52:99:751,0,705
1 153520804 rs28452456 A G 806.06 PASS AB=0.531;AC=1;AF=0.50;AN=2;BaseQRankSum=1.317;DB;DP=64;Dels=0.0;FS=2.504;HRun=2;HaplotypeScore=0.7887;MQ=57.98;MQ0=0;MQRankSum=0.103;QD=12.59;ReadPosRankSum=1.951;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=S100A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368712 GT:AD:DP:GQ:PL 0/1:34,30:64:99:836,0,1032
1 153520954 rs36022742 C T 1340.19 PASS AB=0.483;AC=1;AF=0.50;AN=2;BaseQRankSum=5.208;DB;DP=90;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.6971;MQ=58.97;MQ0=0;MQRankSum=-0.514;QD=14.89;ReadPosRankSum=1.756;SNPEFF_AMINO_ACID_CHANGE=R3K;SNPEFF_CODON_CHANGE=aGg/aAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_153520821_153520966;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=S100A3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368712 GT:AD:DP:GQ:PL 0/1:43,46:90:99:1370,0,1253
1 153521018 rs28548347 A C 284.82 PASS AB=0.536;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.349;DB;DP=28;Dels=0.0;FS=3.332;HRun=6;HaplotypeScore=0.0;MQ=59.17;MQ0=0;MQRankSum=0.23;QD=10.17;ReadPosRankSum=-0.875;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=S100A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368712 GT:AD:DP:GQ:PL 0/1:15,13:28:99:315,0,505
1 153533898 rs8401 A G 1830.22 PASS AB=0.496;AC=1;AF=0.50;AN=2;BaseQRankSum=2.295;DB;DP=135;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=5.1415;MQ=59.55;MQ0=0;MQRankSum=0.61;QD=13.56;ReadPosRankSum=1.793;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=S100A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000487430 GT:AD:DP:GQ:PL 0/1:67,68:135:99:1860,0,2056
1 153534027 rs1047325 C T 2693.77 PASS AB=0.531;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.266;DB;DP=192;Dels=0.0;FS=4.219;HRun=1;HaplotypeScore=1.8499;MQ=59.4;MQ0=0;MQRankSum=-0.586;QD=14.03;ReadPosRankSum=-0.206;SNPEFF_AMINO_ACID_CHANGE=S102N;SNPEFF_CODON_CHANGE=aGc/aAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_153533825_153534067;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=S100A2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368707 GT:AD:DP:GQ:PL 0/1:102,90:192:99:2724,0,3091
1 153534150 rs189082738 G A 793.95 PASS AB=0.51;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.82;DB;DP=52;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.11;MQ0=0;MQRankSum=-0.273;QD=15.27;ReadPosRankSum=-0.443;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=S100A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368707 GT:AD:DP:GQ:PL 0/1:26,25:52:99:824,0,852
1 153587256 rs11548102 A T 254.88 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.32;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=S100A13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000339556 GT:AD:DP:GQ:PL 1/1:0,9:9:24.06:288,24,0
1 153587308 rs11548104 C T 712.26 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.84;MQ0=0;QD=35.61;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=S100A13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000339556 GT:AD:DP:GQ:PL 1/1:0,20:20:57.18:745,57,0
1 153588208 rs9792963 G A 139.36 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.23;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=S100A13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000339556 GT:AD:DP:GQ:PL 1/1:0,6:6:15.04:172,15,0
1 153588279 rs9792967 G A 350.99 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.91;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=S100A13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000339556 GT:AD:DP:GQ:PL 1/1:0,11:11:30.09:384,30,0
1 153591652 rs9726753 G A 1236.30 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=S100A13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000339556 GT:AD:DP:GQ:PL 1/1:0,34:34:96.31:1269,96,0
1 153591770 rs9330299 T C 38.32 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=19.16;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=S100A13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000339556 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:70,6,0
1 153600778 rs3806233 G A 129.45 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.36;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=S100A13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469931 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:162,12,0
1 153602861 rs3790411 G C 133.26 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.32;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=S100A13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469931 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:166,12,0
1 153604029 rs1046379 C T 4092 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.35;DB;DP=128;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=2.312;MQ=60.0;MQ0=0;MQRankSum=-0.341;QD=31.97;ReadPosRankSum=-0.341;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=S100A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000436839 GT:AD:DP:GQ:PL 1/1:1,127:128:99:4092,295,0
1 153604112 rs1046381 G A 7046.18 PASS AC=2;AF=1.00;AN=2;DB;DP=212;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=59.56;MQ0=0;QD=33.24;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=S100A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000436839 GT:AD:DP:GQ:PL 1/1:0,210:212:99:7046,551,0
1 153604422 rs1128894 T C 199.24 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.21;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=S100A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368696 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:232,18,0
1 153609039 rs4845557 T C 1661.08 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.24;MQ0=0;QD=31.34;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=S100A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000292169 GT:AD:DP:GQ:PL 1/1:0,53:53:99:1694,132,0
1 153615820 rs74844193 G A 784.64 PASS AB=0.413;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.312;DB;DP=46;Dels=0.0;FS=2.893;HRun=0;HaplotypeScore=0.0;MQ=59.5;MQ0=0;MQRankSum=0.112;QD=17.06;ReadPosRankSum=0.067;SNPEFF_AMINO_ACID_CHANGE=R149H;SNPEFF_CODON_CHANGE=cGt/cAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_153615703_153615840;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHTOP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368687 GT:AD:DP:GQ:PL 0/1:19,27:46:99:815,0,559
1 153617773 rs11680 C G 219.14 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=0.521;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.45;MQ0=0;MQRankSum=2.372;QD=14.61;ReadPosRankSum=0.289;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHTOP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368686 GT:AD:DP:GQ:PL 0/1:8,7:15:99:249,0,278
1 153635425 rs3795396 G A 1145.53 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.8;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ILF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368681 GT:AD:DP:GQ:PL 1/1:0,31:32:90.26:1179,90,0
1 153636472 . T TACC 621.92 PASS AC=2;AF=1.00;AN=2;DP=17;FS=0.0;HRun=0;HaplotypeScore=67.881;IndelType=I;MQ=66.64;MQ0=0;QD=36.58;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ILF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368681 GT:AD:DP:GQ:PL 1/1:3,13:17:49.52:664,50,0
1 153636860 rs4351684 A G 2120.57 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.791;MQ=59.65;MQ0=0;QD=32.13;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ILF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368681 GT:AD:DP:GQ:PL 1/1:0,66:66:99:2154,166,0
1 153637617 rs3862047 G A 806.59 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.61;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ILF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368681 GT:AD:DP:GQ:PL 1/1:0,24:24:63.21:840,63,0
1 153640665 rs10797096 G A 41.87 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.93;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ILF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361891 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:73,6,0
1 153642835 rs6663046 G C 161.69 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.34;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ILF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361891 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:194,15,0
1 153656352 rs9662664 T G 877.97 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.2;MQ0=0;QD=33.77;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NPR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368680 GT:AD:DP:GQ:PL 1/1:0,26:26:66.22:911,66,0
1 153656405 rs75462208 C G 611.05 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.63;MQ0=0;QD=35.94;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NPR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368680 GT:AD:DP:GQ:PL 1/1:0,17:17:48.15:644,48,0
1 153660514 rs13305999 AC A 968.22 PASS AC=2;AF=1.00;AN=2;DB;DP=34;FS=0.0;HRun=7;HaplotypeScore=90.5661;IndelType=D;MQ=60.63;MQ0=0;QD=28.48;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NPR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368680 GT:AD:DP:GQ:PL 1/1:0,34:34:99:1010,99,0
1 153661374 rs67655025 CG C 1438.30 PASS AC=2;AF=1.00;AN=2;DB;DP=41;FS=0.0;HRun=2;HaplotypeScore=161.3131;IndelType=D;MQ=58.29;MQ0=0;QD=35.08;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NPR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368680 GT:AD:DP:GQ:PL 1/1:0,41:41:99:1480,114,0
1 153665919 rs5777879 T TC 1480.49 PASS AC=2;AF=1.00;AN=2;DB;DP=39;FS=0.0;HRun=3;HaplotypeScore=110.9203;IndelType=I;MQ=59.35;MQ0=0;QD=37.96;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NPR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368677 GT:AD:DP:GQ:PL 1/1:2,37:39:99:1523,111,0
1 153743317 rs4345834 G A 286.60 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.83;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INTS3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318967 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:320,24,0
1 153752152 rs143554513 GCT G 307.89 PASS AC=2;AF=1.00;AN=2;DB;DP=8;FS=0.0;HRun=0;HaplotypeScore=27.3061;IndelType=D;MQ=58.46;MQ0=0;QD=38.49;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC27A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461269 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:350,24,0
1 153790501 rs4363451 C T 7031.90 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.0;DB;DP=235;DS;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=3.2869;MQ=59.35;MQ0=0;MQRankSum=-0.328;QD=29.92;ReadPosRankSum=-0.209;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GATAD2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368655 GT:AD:DP:GQ:PL 1/1:1,234:235:99:7032,506,0
1 153904574 rs11264620 T C 163.55 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.26;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=DENND4B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368646 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:196,15,0
1 153906397 rs11264621 A G 1165.95 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.29;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=DENND4B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477746 GT:AD:DP:GQ:PL 1/1:0,34:34:90.28:1199,90,0
1 153907278 rs3835302 CCTGCTGCTG C 2919.94 PASS AC=2;AF=1.00;AN=2;DB;DP=64;FS=0.0;HRun=0;HaplotypeScore=601.8626;IndelType=D;MQ=54.47;MQ0=0;QD=45.62;SNPEFF_AMINO_ACID_CHANGE=QQQ908-;SNPEFF_CODON_CHANGE=cagcagcag/-;SNPEFF_EFFECT=CODON_DELETION;SNPEFF_EXON_ID=exon_1_153907236_153907440;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=DENND4B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000361217 GT:AD:DP:GQ:PL 1/1:17,47:64:99:2962,141,0
1 153908309 rs11586075 G A 91.07 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.36;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=DENND4B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485359 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:123,9,0
1 153909069 rs1043608 G C 1153.15 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.94;SNPEFF_AMINO_ACID_CHANGE=A796;SNPEFF_CODON_CHANGE=gcC/gcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_153909018_153909224;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=DENND4B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000361217 GT:AD:DP:GQ:PL 1/1:0,33:33:93.28:1186,93,0
1 153913699 rs1110165 T G 422.32 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.19;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=DENND4B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464048 GT:AD:DP:GQ:PL 1/1:0,12:12:33.11:455,33,0
1 153913770 rs2252508 A G 555.51 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.9;MQ0=0;QD=32.68;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=DENND4B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464048 GT:AD:DP:GQ:PL 1/1:0,17:17:48.14:589,48,0
1 153920564 rs10559 A G 790.54 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.28;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CRTC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467860 GT:AD:DP:GQ:PL 1/1:0,27:27:63.20:824,63,0
1 153921483 rs111395902 AC A 570.31 PASS AC=2;AF=1.00;AN=2;DB;DP=17;FS=0.0;HRun=4;HaplotypeScore=47.6525;IndelType=D;MQ=58.9;MQ0=0;QD=33.55;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CRTC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467860 GT:AD:DP:GQ:PL 1/1:0,17:17:51.16:612,51,0
1 153926078 rs11264680 T C 256.27 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.03;SNPEFF_AMINO_ACID_CHANGE=M147V;SNPEFF_CODON_CHANGE=Atg/Gtg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_153926014_153926082;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CRTC2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368633 GT:AD:DP:GQ:PL 1/1:0,8:8:21.07:289,21,0
1 153927270 rs10908558 T C 633.26 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.7887;MQ=58.95;MQ0=0;QD=28.78;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC39A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310483 GT:AD:DP:GQ:PL 1/1:0,22:22:51.15:666,51,0
1 153941514 rs11264743 C T 1923 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9997;MQ=60.0;MQ0=0;QD=31.52;SNPEFF_AMINO_ACID_CHANGE=P75S;SNPEFF_CODON_CHANGE=Ccc/Tcc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_153941406_153941652;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CREB3L4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368600 GT:AD:DP:GQ:PL 1/1:0,61:61:99:1956,150,0
1 153954674 rs10908578 T C 1409.46 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.24;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RAB13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484297 GT:AD:DP:GQ:PL 1/1:0,40:40:99:1442,114,0
1 153963983 rs114120114 A G 462.62 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=51.87;MQ0=0;QD=33.04;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NUP210L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271854 GT:AD:DP:GQ:PL 1/1:0,14:14:42.12:496,42,0
1 153963995 . A AAG 1404.76 PASS AC=2;AF=1.00;AN=2;DP=27;FS=0.0;HRun=0;HaplotypeScore=104.4385;IndelType=I;MQ=53.4;MQ0=0;QD=52.03;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NUP210L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271854 GT:AD:DP:GQ:PL 1/1:0,27:27:81.27:1447,81,0
1 153964396 rs67468611 C CAA 1871.95 PASS AC=2;AF=1.00;AN=2;DB;DP=33;FS=0.0;HRun=1;HaplotypeScore=72.694;IndelType=I;MQ=59.02;MQ0=0;QD=56.73;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NUP210L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271854 GT:AD:DP:GQ:PL 1/1:1,32:33:99:1914,99,0
1 153994647 rs11264875 C T 2491.70 PASS AC=2;AF=1.00;AN=2;DB;DP=71;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=59.02;MQ0=0;QD=35.09;SNPEFF_AMINO_ACID_CHANGE=V1491I;SNPEFF_CODON_CHANGE=Gtt/Att;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_153994602_153994819;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NUP210L;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000271854 GT:AD:DP:GQ:PL 1/1:0,71:71:99:2525,187,0
1 154027381 rs3834774 AT A 204.63 PASS AC=2;AF=1.00;AN=2;DB;DP=16;FS=0.0;HRun=14;HaplotypeScore=44.8497;IndelType=D;MQ=58.55;MQ0=0;QD=12.79;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NUP210L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271854 GT:AD:DP:GQ:PL 1/1:4,12:16:35.70:247,36,0
1 154029450 rs11264964 G C 590.45 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.73;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NUP210L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271854 GT:AD:DP:GQ:PL 1/1:0,17:17:48.14:623,48,0
1 154061855 rs2066135 T G 3166.20 PASS AC=2;AF=1.00;AN=2;DB;DP=87;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=59.74;MQ0=0;QD=36.39;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NUP210L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271854 GT:AD:DP:GQ:PL 1/1:0,87:87:99:3199,232,0
1 154062342 rs10908691 C T 33.64 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=16.82;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NUP210L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271854 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:65,6,0
1 154091017 rs6661101 G C 789.13 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.06;MQ0=0;QD=39.46;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NUP210L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271854 GT:AD:DP:GQ:PL 1/1:0,20:20:60.20:822,60,0
1 154108387 rs3001361 G A 1512.37 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.01;SNPEFF_AMINO_ACID_CHANGE=N304;SNPEFF_CODON_CHANGE=aaC/aaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_154108290_154108448;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NUP210L;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000271854 GT:AD:DP:GQ:PL 1/1:0,42:42:99:1545,114,0
1 154110733 rs75102309 GA G 1136.19 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.664;DB;DP=57;FS=0.0;HRun=11;HaplotypeScore=158.9097;IndelType=D;MQ=59.79;MQ0=0;MQRankSum=-0.034;QD=19.93;ReadPosRankSum=1.597;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NUP210L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271854 GT:AD:DP:GQ:PL 1/1:8,48:57:99:1178,120,0
1 154112167 rs2500223 A C 618.15 PASS AB=0.179;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.12;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=5.9658;MQ=59.17;MQ0=0;MQRankSum=0.0;QD=22.08;ReadPosRankSum=0.24;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NUP210L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271854 GT:AD:DP:GQ:PL 0/1:5,23:28:28.26:648,0,28
1 154127100 rs4400599 T C 121.88 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.47;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TPM3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271850 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:154,12,0
1 154141908 rs4845364 A G 490.13 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.01;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TPM3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368527 GT:AD:DP:GQ:PL 1/1:0,14:14:39.13:523,39,0
1 154179679 rs6719 T C 50.63 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.32;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf43;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368516 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
1 154186918 rs12408458 G C 1869.95 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.28;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf43;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000350592 GT:AD:DP:GQ:PL 1/1:0,53:53:99:1903,138,0
1 154192463 rs71584183 G GT 405.60 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.519;DB;DP=19;FS=0.0;HRun=10;HaplotypeScore=46.9195;IndelType=I;MQ=63.87;MQ0=0;MQRankSum=1.085;QD=21.35;ReadPosRankSum=1.519;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf43;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000350592 GT:AD:DP:GQ:PL 1/1:4,15:19:23.61:448,24,0
1 154208877 rs3762339 A G 210.46 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.08;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBAP2L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000441890 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:243,18,0
1 154218550 rs71584185 CT C 138.33 PASS AC=2;AF=1.00;AN=2;DB;DP=5;FS=0.0;HRun=4;HaplotypeScore=12.1361;IndelType=D;MQ=60.0;MQ0=0;QD=27.67;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBAP2L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000412596 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:180,15,0
1 154218639 rs4040743 TTCAG T 1916.64 PASS AC=2;AF=1.00;AN=2;DB;DP=36;FS=0.0;HRun=0;HaplotypeScore=190.7322;IndelType=D;MQ=52.27;MQ0=1;QD=51.8;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBAP2L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000412596 GT:AD:DP:GQ:PL 1/1:0,37:36:99:1959,105,0
1 154227239 rs1194604 C A 523.46 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.92;MQ0=0;QD=34.9;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBAP2L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466173 GT:AD:DP:GQ:PL 1/1:0,15:15:42.13:556,42,0
1 154227292 rs71584188 G GT 663.30 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.325;DB;DP=40;FS=0.0;HRun=14;HaplotypeScore=304.5472;IndelType=I;MQ=56.46;MQ0=0;MQRankSum=1.083;QD=16.58;ReadPosRankSum=-0.975;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBAP2L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466173 GT:AD:DP:GQ:PL 1/1:7,28:40:75.35:705,75,0
1 154228287 rs1194603 T C 1719.35 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.543;DB;DP=57;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=4.5541;MQ=59.19;MQ0=0;MQRankSum=1.606;QD=30.16;ReadPosRankSum=1.102;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBAP2L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466173 GT:AD:DP:GQ:PL 1/1:1,56:57:99:1752,144,0
1 154241698 . C T 112.11 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=1.3;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=16.02;ReadPosRankSum=0.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBAP2L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271877 GT:AD:DP:GQ:PL 0/1:3,4:7:99:142,0,105
1 154305010 rs1209264 A G 47.79 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.89;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP8B2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368490 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
1 154306330 rs111396506 C CA 368.60 PASS AC=2;AF=1.00;AN=2;DB;DP=10;FS=0.0;HRun=3;HaplotypeScore=67.0976;IndelType=I;MQ=49.96;MQ0=0;QD=36.86;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP8B2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368490 GT:AD:DP:GQ:PL 1/1:0,10:10:30.10:411,30,0
1 154306334 rs56699544 C A 59.21 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=49.96;MQ0=0;QD=5.92;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP8B2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368490 GT:AD:DP:GQ:PL 1/1:0,10:10:11.95:92,12,0
1 154310048 rs1760795 C G 2951.04 PASS AC=2;AF=1.00;AN=2;DB;DP=93;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.45;MQ0=0;QD=31.73;SNPEFF_AMINO_ACID_CHANGE=L354;SNPEFF_CODON_CHANGE=ctC/ctG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_154309824_154310322;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP8B2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000368487 GT:AD:DP:GQ:PL 1/1:0,93:93:99:2984,220,0
1 154313232 rs1194588 T C 661.21 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.78;MQ0=0;QD=34.8;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP8B2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368487 GT:AD:DP:GQ:PL 1/1:0,19:19:51.17:694,51,0
1 154317153 rs1194587 C T 2683.06 PASS AC=2;AF=1.00;AN=2;DB;DP=75;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=59.38;MQ0=0;QD=35.77;SNPEFF_AMINO_ACID_CHANGE=S759;SNPEFF_CODON_CHANGE=tcC/tcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_154317117_154317261;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP8B2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000368489 GT:AD:DP:GQ:PL 1/1:0,75:75:99:2716,199,0
1 154317418 rs1194586 T C 897.23 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.23;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP8B2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341822 GT:AD:DP:GQ:PL 1/1:0,27:27:69.22:930,69,0
1 154318564 rs1194585 G A 420.22 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.933;MQ=58.45;MQ0=0;QD=28.01;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP8B2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341822 GT:AD:DP:GQ:PL 1/1:0,15:15:36.10:453,36,0
1 154321072 rs1194591 A G 698.11 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.24;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP8B2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368489 GT:AD:DP:GQ:PL 1/1:0,21:21:54.18:731,54,0
1 154351199 rs34437053 G A 1033.06 PASS AB=0.527;AC=1;AF=0.50;AN=2;BaseQRankSum=1.869;DB;DP=74;Dels=0.0;FS=6.227;HRun=1;HaplotypeScore=2.3724;MQ=57.71;MQ0=0;MQRankSum=0.385;QD=13.96;ReadPosRankSum=-1.271;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP11-350G8.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000437336 GT:AD:DP:GQ:PL 0/1:39,35:74:99:1063,0,1017
1 154351247 rs57100877 C G 917.12 PASS AB=0.552;AC=1;AF=0.50;AN=2;BaseQRankSum=0.483;DB;DP=67;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.933;MQ=57.32;MQ0=0;MQRankSum=0.339;QD=13.69;ReadPosRankSum=0.238;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP11-350G8.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000437336 GT:AD:DP:GQ:PL 0/1:37,30:67:99:947,0,952
1 154351277 rs60767732 G T 866.06 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.961;DB;DP=72;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9894;MQ=57.18;MQ0=0;MQRankSum=0.595;QD=12.03;ReadPosRankSum=0.23;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP11-350G8.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000437336 GT:AD:DP:GQ:PL 0/1:40,32:72:99:896,0,1152
1 154351304 rs60682501 A G 937.89 PASS AB=0.544;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.563;DB;DP=79;Dels=0.0;FS=0.872;HRun=0;HaplotypeScore=2.7276;MQ=57.55;MQ0=0;MQRankSum=0.927;QD=11.87;ReadPosRankSum=-0.552;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP11-350G8.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000437336 GT:AD:DP:GQ:PL 0/1:43,36:79:99:968,0,1203
1 154351323 rs60412881 T C 1127.55 PASS AB=0.506;AC=1;AF=0.50;AN=2;BaseQRankSum=3.636;DB;DP=89;Dels=0.0;FS=0.834;HRun=2;HaplotypeScore=0.0;MQ=53.65;MQ0=0;MQRankSum=0.06;QD=12.67;ReadPosRankSum=-1.339;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP11-350G8.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000437336 GT:AD:DP:GQ:PL 0/1:45,44:89:99:1158,0,1329
1 154401972 rs6694817 T C 202.22 PASS AB=0.357;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.4;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=0.267;QD=14.44;ReadPosRankSum=2.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL6R;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344086 GT:AD:DP:GQ:PL 0/1:5,9:14:99:232,0,174
1 154407419 rs7518199 A C 160.29 PASS AB=0.385;AC=1;AF=0.50;AN=2;BaseQRankSum=0.143;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8321;MQ=54.44;MQ0=0;MQRankSum=-1.932;QD=12.33;ReadPosRankSum=-0.466;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL6R;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000512471 GT:AD:DP:GQ:PL 0/1:5,8:13:99:190,0,160
1 154407713 rs7521458 T C 35.82 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.589;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=60.0;MQ0=0;MQRankSum=0.555;QD=2.76;ReadPosRankSum=-0.37;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL6R;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000512471 GT:AD:DP:GQ:PL 0/1:9,3:13:65.81:66,0,335
1 154408340 rs4845371 T C 138.03 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.61;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL6R;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000512471 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:171,12,0
1 154426970 rs2228145 A C 222.01 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.119;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.413;QD=12.33;ReadPosRankSum=-0.618;SNPEFF_AMINO_ACID_CHANGE=D358A;SNPEFF_CODON_CHANGE=gAt/gCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_154426964_154427057;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL6R;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368485 GT:AD:DP:GQ:PL 0/1:9,9:18:99:252,0,266
1 154437896 rs2229238 T C 496.03 PASS AB=0.627;AC=1;AF=0.50;AN=2;BaseQRankSum=0.711;DB;DP=51;Dels=0.0;FS=3.039;HRun=0;HaplotypeScore=2.5771;MQ=60.0;MQ0=0;MQRankSum=-0.984;QD=9.73;ReadPosRankSum=-1.393;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL6R;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000502679 GT:AD:DP:GQ:PL 0/1:32,19:51:99:526,0,986
1 154458932 rs4845632 A G 1114.50 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.3;MQ0=0;QD=33.77;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SHE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304760 GT:AD:DP:GQ:PL 1/1:0,33:33:84.28:1148,84,0
1 154459197 rs4845633 C G 865.45 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.05;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SHE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304760 GT:AD:DP:GQ:PL 1/1:0,27:27:69.22:898,69,0
1 154473726 rs6683078 G A 213.38 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.48;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SHE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304760 GT:AD:DP:GQ:PL 1/1:0,7:7:18.06:246,18,0
1 154474131 rs4845635 C G 385.54 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.62;MQ0=0;QD=27.54;SNPEFF_AMINO_ACID_CHANGE=R124;SNPEFF_CODON_CHANGE=cgG/cgC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_154473912_154474589;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SHE;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000304760 GT:AD:DP:GQ:PL 1/1:0,14:14:36.08:419,36,0
1 154479657 rs10654618 C CAT 1116.99 PASS AC=2;AF=1.00;AN=2;DB;DP=19;FS=0.0;HRun=0;HaplotypeScore=66.8075;IndelType=I;MQ=56.21;MQ0=0;QD=58.79;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TDRD10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368480 GT:AD:DP:GQ:PL 1/1:0,19:19:57.20:1159,57,0
1 154479670 rs6664608 C T 175.30 PASS AB=0.652;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.678;DB;DP=23;Dels=0.0;FS=2.793;HRun=1;HaplotypeScore=0.0;MQ=56.62;MQ0=0;MQRankSum=-1.84;QD=7.62;ReadPosRankSum=0.613;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TDRD10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368480 GT:AD:DP:GQ:PL 0/1:15,8:23:99:205,0,500
1 154481158 rs7513603 T C 125.32 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.16;MQ0=0;QD=31.33;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TDRD10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368480 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:158,12,0
1 154492702 rs10908842 G A 252.03 PASS AB=0.438;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.847;DB;DP=16;Dels=0.0;FS=3.31;HRun=0;HaplotypeScore=0.0;MQ=58.83;MQ0=0;MQRankSum=-1.905;QD=15.75;ReadPosRankSum=0.318;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TDRD10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368480 GT:AD:DP:GQ:PL 0/1:7,9:16:99:282,0,242
1 154493721 rs6684225 T C 1619.30 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.48;MQ0=0;QD=36.8;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TDRD10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368480 GT:AD:DP:GQ:PL 1/1:0,44:44:99:1652,123,0
1 154494082 rs4269769 G C 564.58 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.89;MQ0=0;QD=26.88;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TDRD10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368480 GT:AD:DP:GQ:PL 1/1:0,21:21:54.10:598,54,0
1 154515193 rs58881140 C T 409.17 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.395;DB;DP=30;Dels=0.0;FS=6.271;HRun=2;HaplotypeScore=0.0;MQ=59.23;MQ0=0;MQRankSum=0.062;QD=13.64;ReadPosRankSum=0.769;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TDRD10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368480 GT:AD:DP:GQ:PL 0/1:14,16:30:99:439,0,489
1 154516477 rs12750774 G A 1229.84 PASS AB=0.436;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.03;DB;DP=78;Dels=0.0;FS=3.377;HRun=1;HaplotypeScore=0.9789;MQ=60.0;MQ0=0;MQRankSum=-1.553;QD=15.77;ReadPosRankSum=-1.585;SNPEFF_AMINO_ACID_CHANGE=R181Q;SNPEFF_CODON_CHANGE=cGa/cAa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_154516439_154516586;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TDRD10;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368480 GT:AD:DP:GQ:PL 0/1:34,44:78:99:1260,0,1019
1 154516571 rs6678164 T C 1220.25 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.9;SNPEFF_AMINO_ACID_CHANGE=A212;SNPEFF_CODON_CHANGE=gcT/gcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_154516439_154516586;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TDRD10;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000368480 GT:AD:DP:GQ:PL 1/1:0,36:36:93.30:1253,93,0
1 154516578 rs3811448 G A 291.05 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.77;DB;DP=30;Dels=0.0;FS=5.764;HRun=0;HaplotypeScore=0.0;MQ=59.38;MQ0=0;MQRankSum=1.562;QD=9.7;ReadPosRankSum=-1.166;SNPEFF_AMINO_ACID_CHANGE=V215I;SNPEFF_CODON_CHANGE=Gtc/Atc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_154516439_154516586;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TDRD10;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368480 GT:AD:DP:GQ:PL 0/1:20,10:30:99:321,0,594
1 154517217 rs6681207 T C 109.73 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=0.143;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.387;QD=9.98;ReadPosRankSum=-0.387;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBE2Q1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000292211 GT:AD:DP:GQ:PL 0/1:6,5:11:99:140,0,178
1 154517504 rs3811449 G A 267.50 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.868;DB;DP=22;Dels=0.0;FS=6.56;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.352;QD=12.16;ReadPosRankSum=-0.363;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TDRD10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462871 GT:AD:DP:GQ:PL 0/1:10,12:22:99:297,0,363
1 154519800 rs113168174 C CA 134.78 PASS AB=0.783;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.055;DB;DP=18;FS=0.0;HRun=1;HaplotypeScore=54.6599;IndelType=I;MQ=60.0;MQ0=0;MQRankSum=-0.896;QD=7.49;ReadPosRankSum=1.739;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TDRD10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462871 GT:AD:DP:GQ:PL 0/1:13,5:18:99:174,0,417
1 154523215 rs4520411 C T 294.90 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.77;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TDRD10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368480 GT:AD:DP:GQ:PL 1/1:0,9:9:24.08:328,24,0
1 154523588 rs10908849 T G 867.43 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.7;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TDRD10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368480 GT:AD:DP:GQ:PL 1/1:0,25:25:66.22:900,66,0
1 154524973 rs12144146 A G 698.93 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=1.08;DB;DP=42;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.445;QD=16.64;ReadPosRankSum=0.394;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TDRD10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368480 GT:AD:DP:GQ:PL 0/1:18,24:42:99:729,0,553
1 154527672 rs7543174 C T 194.52 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.42;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBE2Q1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000292211 GT:AD:DP:GQ:PL 1/1:0,6:6:18.04:227,18,0
1 154528086 rs4078519 T C 506.30 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.65;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBE2Q1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000292211 GT:AD:DP:GQ:PL 1/1:0,19:19:48.11:539,48,0
1 154541971 . T G 45.52 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.63;DP=22;Dels=0.0;FS=7.123;HRun=2;HaplotypeScore=0.8667;MQ=58.95;MQ0=0;MQRankSum=-1.449;QD=2.07;ReadPosRankSum=0.634;SNPEFF_AMINO_ACID_CHANGE=V33G;SNPEFF_CODON_CHANGE=gTg/gGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_154541938_154542083;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHRNB2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368476 GT:AD:DP:GQ:PL 0/1:11,11:22:75.52:76,0,255
1 154557685 rs9427094 C T 1508.06 PASS AB=0.477;AC=1;AF=0.50;AN=2;BaseQRankSum=1.674;DB;DP=111;Dels=0.0;FS=0.726;HRun=1;HaplotypeScore=2.1375;MQ=59.17;MQ0=0;MQRankSum=-0.159;QD=13.59;ReadPosRankSum=0.059;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADAR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000530954 GT:AD:DP:GQ:PL 0/1:53,58:111:99:1538,0,1543
1 154561261 rs9427095 G C 548.08 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADAR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000292205 GT:AD:DP:GQ:PL 1/1:0,16:16:45.14:581,45,0
1 154561661 rs1542796 C G 51.16 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADAR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000292205 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
1 154561925 rs1127309 C T 448.71 PASS AB=0.441;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.694;DB;DP=34;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=1.9998;MQ=60.0;MQ0=0;MQRankSum=-1.145;QD=13.2;ReadPosRankSum=-1.63;SNPEFF_AMINO_ACID_CHANGE=V599;SNPEFF_CODON_CHANGE=gtG/gtA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_154561845_154561938;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADAR;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000368471 GT:AD:DP:GQ:PL 0/1:15,19:34:99:479,0,452
1 154562617 rs3215061 A AC 32.34 QDFilter2 AB=0.844;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.38;DB;DP=27;FS=0.0;HRun=7;HaplotypeScore=336.1371;IndelType=I;MQ=47.66;MQ0=0;MQRankSum=-0.38;QD=1.2;ReadPosRankSum=0.163;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADAR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000292205 GT:AD:DP:GQ:PL 0/1:22,5:27:9.98:71,0,10
1 154571174 rs143817514 T TGGA 695.92 PASS AC=2;AF=1.00;AN=2;DB;DP=12;FS=0.0;HRun=0;HaplotypeScore=33.8368;IndelType=I;MQ=49.5;MQ0=0;QD=57.99;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADAR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463920 GT:AD:DP:GQ:PL 1/1:1,11:12:33.11:738,33,0
1 154573419 rs3738032 C T 832.24 PASS AB=0.446;AC=1;AF=0.50;AN=2;BaseQRankSum=0.392;DB;DP=56;Dels=0.0;FS=2.649;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.705;QD=14.86;ReadPosRankSum=1.21;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADAR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471068 GT:AD:DP:GQ:PL 0/1:25,31:56:99:862,0,696
1 154573967 rs2229857 T C 1276.18 PASS AB=0.495;AC=1;AF=0.50;AN=2;BaseQRankSum=0.53;DB;DP=97;Dels=0.0;FS=0.82;HRun=0;HaplotypeScore=0.0;MQ=59.57;MQ0=0;MQRankSum=-0.105;QD=13.16;ReadPosRankSum=-0.66;SNPEFF_AMINO_ACID_CHANGE=K379R;SNPEFF_CODON_CHANGE=aAa/aGa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_154573517_154575102;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADAR;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000529168 GT:AD:DP:GQ:PL 0/1:48,49:97:99:1306,0,1635
1 154574820 rs1466731 T C 1408.55 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.58;MQ0=0;QD=32.01;SNPEFF_AMINO_ACID_CHANGE=R100G;SNPEFF_CODON_CHANGE=Aga/Gga;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_154573517_154575102;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADAR;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368474 GT:AD:DP:GQ:PL 1/1:0,44:44:99:1442,111,0
1 154575040 rs1802645 C T 1700.52 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.55;MQ0=0;QD=33.34;SNPEFF_AMINO_ACID_CHANGE=R21;SNPEFF_CODON_CHANGE=agG/agA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_154573517_154575102;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADAR;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000529168 GT:AD:DP:GQ:PL 1/1:0,51:51:99:1734,129,0
1 154575321 rs3738029 G A 34.97 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.16;MQ0=0;MQRankSum=0.358;QD=6.99;ReadPosRankSum=-0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADAR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000292205 GT:AD:DP:GQ:PL 0/1:3,2:5:64.96:65,0,99
1 154575336 rs4845381 A G 122.88 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.16;MQ0=0;QD=30.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADAR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000292205 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:155,12,0
1 154600372 rs6426859 A G 1217.01 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=55.94;MQ0=0;QD=29.68;SNPEFF_AMINO_ACID_CHANGE=S35P;SNPEFF_CODON_CHANGE=Tct/Cct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_154600331_154600474;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADAR;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000292205 GT:AD:DP:GQ:PL 1/1:0,41:41:99:1250,102,0
1 154600533 rs28411375 A G 635.29 PASS AB=0.523;AC=1;AF=0.50;AN=2;BaseQRankSum=0.376;DB;DP=44;Dels=0.0;FS=3.85;HRun=2;HaplotypeScore=0.0;MQ=58.41;MQ0=0;MQRankSum=0.728;QD=14.44;ReadPosRankSum=-0.611;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADAR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000292205 GT:AD:DP:GQ:PL 0/1:23,21:44:99:665,0,761
1 154744807 rs1051614 C G 201.22 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.893;DB;DP=16;Dels=0.0;FS=2.447;HRun=0;HaplotypeScore=0.6651;MQ=58.55;MQ0=0;MQRankSum=-1.208;QD=12.58;ReadPosRankSum=0.368;SNPEFF_AMINO_ACID_CHANGE=L364;SNPEFF_CODON_CHANGE=ctG/ctC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_154744451_154744869;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNN3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000271915 GT:AD:DP:GQ:PL 0/1:8,8:16:99:231,0,242
1 154744852 rs1131820 A G 446 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.17;SNPEFF_AMINO_ACID_CHANGE=N349;SNPEFF_CODON_CHANGE=aaT/aaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_154744451_154744869;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNN3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000271915 GT:AD:DP:GQ:PL 1/1:0,12:12:36.12:479,36,0
1 154744937 rs11589471 C T 49.86 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.248;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.683;QD=5.54;ReadPosRankSum=-1.001;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNN3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271915 GT:AD:DP:GQ:PL 0/1:6,3:9:79.86:80,0,180
1 154745031 rs11584403 T G 75 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.537;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.988;QD=12.5;ReadPosRankSum=1.537;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNN3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271915 GT:AD:DP:GQ:PL 0/1:3,3:6:99:105,0,104
1 154794384 rs116831881 C T 34.27 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.026;QD=8.57;ReadPosRankSum=1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNN3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271915 GT:AD:DP:GQ:PL 0/1:2,2:4:61.75:64,0,62
1 154795277 rs870327 T G 42.75 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.537;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.7887;MQ=56.04;MQ0=0;MQRankSum=0.406;QD=7.13;ReadPosRankSum=-1.537;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNN3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271915 GT:AD:DP:GQ:PL 0/1:3,3:6:52.61:73,0,53
1 154795389 rs1218598 G A 366.99 PASS AB=0.263;AC=1;AF=0.50;AN=2;BaseQRankSum=0.509;DB;DP=19;Dels=0.0;FS=2.445;HRun=0;HaplotypeScore=0.9578;MQ=59.01;MQ0=0;MQRankSum=-0.602;QD=19.32;ReadPosRankSum=-0.972;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNN3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271915 GT:AD:DP:GQ:PL 0/1:5,14:19:99:397,0,145
1 154831925 rs1218587 T C 44.89 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.45;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNN3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271915 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:76,6,0
1 154832290 rs1061122 C T 705.10 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=39.17;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNN3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271915 GT:AD:DP:GQ:PL 1/1:0,18:18:54.18:738,54,0
1 154832322 rs1218586 A C 662.10 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.78;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNN3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271915 GT:AD:DP:GQ:PL 1/1:0,18:18:51.17:695,51,0
1 154917701 rs906594 A G 67.17 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=0.55;DB;DP=7;Dels=0.0;FS=3.68;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=9.6;ReadPosRankSum=0.937;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PBXIP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368460 GT:AD:DP:GQ:PL 0/1:4,3:7:97.16:97,0,137
1 154987526 rs11264295 C T 314.89 PASS AB=0.586;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.648;DB;DP=29;Dels=0.0;FS=3.646;HRun=1;HaplotypeScore=0.0;MQ=58.39;MQ0=0;MQRankSum=0.58;QD=10.86;ReadPosRankSum=1.462;SNPEFF_AMINO_ACID_CHANGE=I130;SNPEFF_CODON_CHANGE=atC/atT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_154986924_154988290;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZBTB7B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000292176 GT:AD:DP:GQ:PL 0/1:17,12:29:99:345,0,506
1 154988957 rs2242195 A G 421.05 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.5226;MQ=58.45;MQ0=0;QD=28.07;SNPEFF_AMINO_ACID_CHANGE=P472;SNPEFF_CODON_CHANGE=ccA/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_154988696_154989457;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZBTB7B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000292176 GT:AD:DP:GQ:PL 1/1:0,15:15:39.11:454,39,0
1 154995503 rs2242193 G A 1124.40 PASS AB=0.463;AC=1;AF=0.50;AN=2;BaseQRankSum=3.686;DB;DP=80;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.655;QD=14.05;ReadPosRankSum=0.084;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=DCST2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295536 GT:AD:DP:GQ:PL 0/1:37,43:80:99:1154,0,1130
1 155026114 rs6660884 C T 85.12 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.37;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=DCST1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295542 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:117,9,0
1 155026871 rs11548311 G T 754 PASS AB=0.451;AC=1;AF=0.50;AN=2;BaseQRankSum=1.98;DB;DP=51;Dels=0.0;FS=4.144;HRun=0;HaplotypeScore=0.9469;MQ=59.37;MQ0=0;MQRankSum=0.352;QD=14.78;ReadPosRankSum=-1.879;SNPEFF_AMINO_ACID_CHANGE=S167;SNPEFF_CODON_CHANGE=tcG/tcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_155026790_155026982;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ADAM15;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000271836 GT:AD:DP:GQ:PL 0/1:23,28:51:99:784,0,617
1 155026942 rs6427128 A C 1337.39 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.97;MQ0=0;QD=29.72;SNPEFF_AMINO_ACID_CHANGE=K191T;SNPEFF_CODON_CHANGE=aAg/aCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_155026790_155026982;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ADAM15;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000271836 GT:AD:DP:GQ:PL 1/1:0,45:45:99:1370,111,0
1 155028522 rs11264302 G A 1338.19 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.84;MQ0=0;QD=33.45;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ADAM15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477533 GT:AD:DP:GQ:PL 1/1:0,40:40:99:1371,102,0
1 155030557 rs11264303 A C 1041.41 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.121;DB;DP=35;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.34;MQ0=0;MQRankSum=-0.714;QD=29.75;ReadPosRankSum=0.51;SNPEFF_AMINO_ACID_CHANGE=T255;SNPEFF_CODON_CHANGE=acA/acC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_155030327_155030631;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ADAM15;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000368410 GT:AD:DP:GQ:PL 1/1:1,34:35:47.63:1074,48,0
1 155033317 rs11264304 T C 481.28 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.83;MQ0=0;QD=30.08;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ADAM15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000447332 GT:AD:DP:GQ:PL 1/1:0,16:16:42.13:514,42,0
1 155033918 rs41264285 C T 243.85 PASS AB=0.182;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.061;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.29;MQ0=0;MQRankSum=-0.354;QD=22.17;ReadPosRankSum=-0.825;SNPEFF_AMINO_ACID_CHANGE=P768S;SNPEFF_CODON_CHANGE=Ccc/Tcc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_155033894_155033965;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ADAM15;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000449910 GT:AD:DP:GQ:PL 0/1:2,9:11:53.43:274,0,53
1 155057499 rs3766918 A G 228.96 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.965;DB;DP=15;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.6208;MQ=58.45;MQ0=0;MQRankSum=-1.109;QD=15.26;ReadPosRankSum=-2.475;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EFNA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368408 GT:AD:DP:GQ:PL 0/1:7,8:15:99:259,0,201
1 155106054 rs4390169 A G 585.54 PASS AB=0.597;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.256;DB;DP=67;Dels=0.0;FS=5.332;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.917;QD=8.74;ReadPosRankSum=1.091;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EFNA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368406 GT:AD:DP:GQ:PL 0/1:40,27:67:99:616,0,1357
1 155106227 rs4745 A T 1221.99 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.743;DB;DP=90;Dels=0.0;FS=15.531;HRun=0;HaplotypeScore=0.9958;MQ=59.74;MQ0=0;MQRankSum=-0.904;QD=13.58;ReadPosRankSum=0.573;SNPEFF_AMINO_ACID_CHANGE=D137V;SNPEFF_CODON_CHANGE=gAc/gTc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_155106206_155106256;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EFNA1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368406 GT:AD:DP:GQ:PL 0/1:45,45:90:99:1252,0,1338
1 155106550 rs9297 A G 56.10 PASS AB=0.8;AC=1;AF=0.50;AN=2;BaseQRankSum=0.938;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.361;QD=3.74;ReadPosRankSum=-0.505;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EFNA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469878 GT:AD:DP:GQ:PL 0/1:12,3:15:86.09:86,0,375
1 155108287 rs11264333 G A 44.52 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=0.55;DB;DP=7;Dels=0.0;FS=3.31;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.937;QD=6.36;ReadPosRankSum=1.754;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DPM3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341298 GT:AD:DP:GQ:PL 0/1:3,4:7:74.51:75,0,80
1 155142210 rs4421576 A G 48.77 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=16.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KRTCAP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295682 GT:AD:DP:GQ:PL 1/1:1,2:3:6.02:80,6,0
1 155152267 . G A 150.69 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=1.031;DP=11;Dels=0.0;FS=2.341;HRun=0;HaplotypeScore=0.9665;MQ=60.0;MQ0=0;MQRankSum=1.031;QD=13.7;ReadPosRankSum=0.143;SNPEFF_AMINO_ACID_CHANGE=G495S;SNPEFF_CODON_CHANGE=Ggc/Agc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_155152108_155152410;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRIM46;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000392451 GT:AD:DP:GQ:PL 0/1:5,6:11:99:181,0,129
1 155162067 rs4072037 C T 936.66 PASS AB=0.536;AC=1;AF=0.50;AN=2;BaseQRankSum=3.815;DB;DP=69;Dels=0.0;FS=1.008;HRun=0;HaplotypeScore=2.8343;MQ=59.33;MQ0=0;MQRankSum=-0.768;QD=13.57;ReadPosRankSum=-0.018;SNPEFF_AMINO_ACID_CHANGE=T22;SNPEFF_CODON_CHANGE=acG/acA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_155161974_155162074;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MUC1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000337604 GT:AD:DP:GQ:PL 0/1:37,32:69:99:967,0,1017
1 155166193 rs74890861 G A 44.20 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.1;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=THBS3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000428962 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:75,6,0
1 155167786 rs41264915 A G 681.63 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.157;DB;DP=45;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=3.3202;MQ=59.49;MQ0=0;MQRankSum=-0.577;QD=15.15;ReadPosRankSum=-1.096;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=THBS3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460050 GT:AD:DP:GQ:PL 0/1:21,24:45:99:712,0,699
1 155172725 rs35154152 T C 331.98 PASS AB=0.44;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.425;DB;DP=25;Dels=0.0;FS=1.768;HRun=1;HaplotypeScore=0.9999;MQ=59.25;MQ0=0;MQRankSum=-1.727;QD=13.28;ReadPosRankSum=0.673;SNPEFF_AMINO_ACID_CHANGE=S129G;SNPEFF_CODON_CHANGE=Agc/Ggc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_155172603_155172751;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=THBS3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000428962 GT:AD:DP:GQ:PL 0/1:11,14:25:99:362,0,345
1 155175892 rs914615 A G 148.91 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.568;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.365;QD=14.89;ReadPosRankSum=-0.365;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=THBS3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368378 GT:AD:DP:GQ:PL 0/1:4,6:10:99:179,0,141
1 155178782 rs760077 A T 135.58 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.568;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.036;QD=13.56;ReadPosRankSum=-1.036;SNPEFF_AMINO_ACID_CHANGE=T63S;SNPEFF_CODON_CHANGE=Act/Tct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_155178588_155179123;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTX1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000316721 GT:AD:DP:GQ:PL 0/1:4,6:10:52.05:166,0,52
1 155181843 rs2974935 G T 267.67 PASS AB=0.522;AC=1;AF=0.50;AN=2;BaseQRankSum=0.4;DB;DP=23;Dels=0.0;FS=4.993;HRun=0;HaplotypeScore=0.0;MQ=55.31;MQ0=0;MQRankSum=1.016;QD=11.64;ReadPosRankSum=-0.954;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GBAP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313929 GT:AD:DP:GQ:PL 0/1:12,11:23:99:298,0,380
1 155181989 rs61738875 G A 393.40 PASS AB=0.531;AC=1;AF=0.50;AN=2;BaseQRankSum=1.449;DB;DP=32;Dels=0.0;FS=3.532;HRun=1;HaplotypeScore=0.0;MQ=57.89;MQ0=0;MQRankSum=1.449;QD=12.29;ReadPosRankSum=-0.139;SNPEFF_AMINO_ACID_CHANGE=E250;SNPEFF_CODON_CHANGE=gaG/gaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_155181918_155182010;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTX1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000368376 GT:AD:DP:GQ:PL 0/1:17,15:32:99:423,0,521
1 155182164 rs2075570 C T 533.85 PASS AB=0.604;AC=1;AF=0.50;AN=2;BaseQRankSum=0.988;DB;DP=53;Dels=0.0;FS=4.367;HRun=0;HaplotypeScore=2.4274;MQ=52.07;MQ0=0;MQRankSum=1.063;QD=10.07;ReadPosRankSum=-1.305;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GBAP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313929 GT:AD:DP:GQ:PL 0/1:32,21:53:99:564,0,855
1 155184367 rs137953989 G C 500.25 PASS AB=0.527;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.802;DB;DP=75;Dels=0.0;FS=3.803;HRun=0;HaplotypeScore=0.0;MQ=44.57;MQ0=3;MQRankSum=-5.869;QD=6.67;ReadPosRankSum=0.175;SNPEFF_AMINO_ACID_CHANGE=V322;SNPEFF_CODON_CHANGE=gtC/gtG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_155184359_155184475;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GBAP1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000368374 GT:AD:DP:GQ:PL 0/1:39,35:75:99:530,0,1104
1 155184975 rs140081212 A G 174.38 MQFilter40 AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.529;DB;DP=18;Dels=0.0;FS=2.158;HRun=1;HaplotypeScore=0.0;MQ=38.2;MQ0=1;MQRankSum=-0.722;QD=9.69;ReadPosRankSum=0.722;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GBAP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462587 GT:AD:DP:GQ:PL 0/1:9,9:18:99:204,0,177
1 155186729 rs28445596 T C 535.41 PASS AB=0.512;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.15;DB;DP=41;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.907;QD=13.06;ReadPosRankSum=0.555;SNPEFF_AMINO_ACID_CHANGE=K105R;SNPEFF_CODON_CHANGE=aAg/aGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_155186648_155186820;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GBAP1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000313929 GT:AD:DP:GQ:PL 0/1:21,20:41:99:565,0,610
1 155202689 rs10796940 A C 227.25 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.094;DB;DP=24;Dels=0.0;FS=17.226;HRun=0;HaplotypeScore=0.0;MQ=55.6;MQ0=0;MQRankSum=0.535;QD=9.47;ReadPosRankSum=-0.661;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327247 GT:AD:DP:GQ:PL 0/1:15,9:24:99:257,0,480
1 155203060 rs56310840 G A 165.37 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.792;DB;DP=14;Dels=0.0;FS=15.355;HRun=0;HaplotypeScore=0.0;MQ=46.47;MQ0=0;MQRankSum=0.663;QD=11.81;ReadPosRankSum=0.91;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327247 GT:AD:DP:GQ:PL 0/1:7,7:14:99:195,0,207
1 155205669 rs28559737 G T 592.78 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=52.73;MQ0=0;QD=29.64;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460156 GT:AD:DP:GQ:PL 1/1:0,20:20:48.14:626,48,0
1 155206341 rs9628662 T G 185.86 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.572;QD=23.23;ReadPosRankSum=1.067;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460156 GT:AD:DP:GQ:PL 0/1:2,6:8:56.36:216,0,56
1 155207549 rs762488 T C 79.38 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=53.44;MQ0=0;MQRankSum=-0.72;QD=13.23;ReadPosRankSum=-0.72;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460156 GT:AD:DP:GQ:PL 0/1:2,4:6:61.77:109,0,62
1 155207626 rs2009578 G A 87.29 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=46.43;MQ0=0;QD=17.46;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460156 GT:AD:DP:GQ:PL 1/1:1,4:5:9.03:119,9,0
1 155207733 rs28678003 C T 169.24 PASS AB=0.3;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.422;DB;DP=11;Dels=0.0;FS=3.01;HRun=0;HaplotypeScore=1.3302;MQ=60.0;MQ0=0;MQRankSum=-0.573;QD=15.39;ReadPosRankSum=1.422;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467918 GT:AD:DP:GQ:PL 0/1:3,7:11:96.69:199,0,97
1 155208647 rs7416991 T G 120.11 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=51.27;MQ0=1;QD=20.02;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467918 GT:AD:DP:GQ:PL 1/1:0,4:6:12.04:153,12,0
1 155240681 . G C 1012.24 PASS AB=0.507;AC=1;AF=0.50;AN=2;BaseQRankSum=2.789;DP=71;Dels=0.0;FS=3.312;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.581;QD=14.26;ReadPosRankSum=0.167;SNPEFF_AMINO_ACID_CHANGE=R30G;SNPEFF_CODON_CHANGE=Cga/Gga;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_155240599_155240768;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLK2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000355560 GT:AD:DP:GQ:PL 0/1:36,35:71:99:1042,0,1075
1 155294274 rs914616 A G 603.92 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.55;SNPEFF_AMINO_ACID_CHANGE=L22;SNPEFF_CODON_CHANGE=ctA/ctG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_155293728_155294335;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RUSC1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000368347 GT:AD:DP:GQ:PL 1/1:0,18:18:54.14:637,54,0
1 155294772 rs4971075 A G 2309.98 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=58.93;MQ0=0;QD=35.54;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FDPS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356657 GT:AD:DP:GQ:PL 1/1:0,64:65:99:2343,181,0
1 155313047 rs4971051 T C 504.56 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.64;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASH1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000548566 GT:AD:DP:GQ:PL 1/1:0,15:15:39.13:538,39,0
1 155408635 rs4971053 T C 1468.02 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;QD=31.91;SNPEFF_AMINO_ACID_CHANGE=T1771A;SNPEFF_CODON_CHANGE=Aca/Gca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_155408118_155408859;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASH1L;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368346 GT:AD:DP:GQ:PL 1/1:0,46:46:99:1501,120,0
1 155532316 rs12403379 T C 195.11 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=38.13;MQ0=0;QD=21.68;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASH1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000548830 GT:AD:DP:GQ:PL 1/1:0,9:9:21.05:228,21,0
1 155532325 rs12403380 T C 202.06 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=39.12;MQ0=0;QD=25.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASH1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000548830 GT:AD:DP:GQ:PL 1/1:0,8:8:21.04:235,21,0
1 155532332 rs34869594 T C 173.35 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=41.96;MQ0=0;QD=28.89;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASH1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000548830 GT:AD:DP:GQ:PL 1/1:0,6:6:18.05:206,18,0
1 155532341 rs61812107 T C 205.62 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=44.1;MQ0=0;QD=20.56;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASH1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000548830 GT:AD:DP:GQ:PL 1/1:0,10:10:21.06:239,21,0
1 155581757 rs145150302 A G 67.33 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=25.11;MQ0=1;QD=16.83;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MSTO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471209 GT:AD:DP:GQ:PL 1/1:0,4:4:9.02:99,9,0
1 155599074 rs137899903 G T 107.38 MQFilter40 AB=0.55;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.299;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=24.66;MQ0=3;MQRankSum=0.914;QD=5.37;ReadPosRankSum=-1.299;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MSTO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000452804 GT:AD:DP:GQ:PL 0/1:11,9:20:99:137,0,155
1 155618415 rs66792856 CT C 1673.96 PASS AC=2;AF=1.00;AN=2;DB;DP=52;FS=0.0;HRun=4;HaplotypeScore=132.3411;IndelType=D;MQ=45.81;MQ0=5;QD=21.46;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MSTO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000452804 GT:AD:DP:GQ:PL 1/1:5,73:52:99:1716,147,0
1 155629483 rs7539 C G 1762.64 PASS AB=0.599;AC=1;AF=0.50;AN=2;BaseQRankSum=1.556;DB;DP=137;Dels=0.0;FS=10.165;HRun=0;HaplotypeScore=0.5784;MQ=59.86;MQ0=0;MQRankSum=-2.764;QD=12.87;ReadPosRankSum=-0.33;SNPEFF_AMINO_ACID_CHANGE=E586Q;SNPEFF_CODON_CHANGE=Gaa/Caa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_155629248_155630704;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=YY1AP1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000535662 GT:AD:DP:GQ:PL 0/1:82,55:137:99:1793,0,2414
1 155631307 rs72046156 AACAC A 216.42 PASS AB=0.761;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.637;DB;DP=30;FS=0.0;HRun=0;HaplotypeScore=174.6219;IndelType=D;MQ=49.74;MQ0=4;MQRankSum=0.143;QD=6.18;ReadPosRankSum=1.532;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MSTO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000452804 GT:AD:DP:GQ:PL 0/1:24,7:30:32.55:255,0,33
1 155697277 . AG A 44.75 PASS AB=0.773;AC=1;AF=0.50;AN=2;BaseQRankSum=2.462;DP=17;FS=0.0;HRun=1;HaplotypeScore=144.6846;IndelType=D;MQ=49.64;MQ0=0;MQRankSum=-2.462;QD=2.63;ReadPosRankSum=0.05;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=DAP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462002 GT:AD:DP:GQ:PL 0/1:12,5:17:83.78:84,0,236
1 155724314 . TG T 95.13 QDFilter2 AB=0.943;AC=1;AF=0.50;AN=2;BaseQRankSum=4.221;DP=115;FS=13.181;HRun=1;HaplotypeScore=1011.9897;IndelType=D;MQ=49.96;MQ0=0;MQRankSum=-3.347;QD=0.83;ReadPosRankSum=-4.353;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GON4L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000483032 GT:AD:DP:GQ:PL 0/1:108,7:115:99:134,0,974
1 155733257 rs607834 T C 259.24 QDFilter2 AB=0.846;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.846;DB;DP=136;Dels=0.0;FS=4.047;HRun=1;HaplotypeScore=0.0;MQ=57.1;MQ0=4;MQRankSum=-2.839;QD=1.91;ReadPosRankSum=-2.442;SNPEFF_AMINO_ACID_CHANGE=P1524;SNPEFF_CODON_CHANGE=ccA/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_155733103_155733355;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GON4L;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000271883 GT:AD:DP:GQ:PL 0/1:115,21:136:99:289,0,3765
1 155737385 rs849712 C T 599.56 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=24.55;MQ0=21;QD=13.94;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GON4L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271883 GT:AD:DP:GQ:PL 1/1:0,43:43:54.14:633,54,0
1 155737425 rs5777955 AACAC A 832.40 PASS AB=0.655;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.378;DB;DP=29;FS=0.0;HRun=0;HaplotypeScore=238.0717;IndelType=D;MQ=33.48;MQ0=9;MQRankSum=0.213;QD=21.91;ReadPosRankSum=-1.308;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GON4L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271883 GT:AD:DP:GQ:PL 0/1:14,20:29:99:871,0,257
1 155737482 . G A 41.70 MQFilter40;QDFilter2 AB=0.833;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.827;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=38.95;MQ0=0;MQRankSum=-0.116;QD=1.74;ReadPosRankSum=-1.588;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GON4L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271883 GT:AD:DP:GQ:PL 0/1:20,4:24:71.69:72,0,726
1 155746340 rs67415527 CT C 282.68 PASS AC=2;AF=1.00;AN=2;DB;DP=19;FS=0.0;HRun=12;HaplotypeScore=88.2153;IndelType=D;MQ=59.36;MQ0=0;QD=14.88;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GON4L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271883 GT:AD:DP:GQ:PL 1/1:3,15:19:41.81:325,42,0
1 155753676 rs822019 A G 394.33 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;QD=32.86;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GON4L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467009 GT:AD:DP:GQ:PL 1/1:0,12:12:33.11:427,33,0
1 155754117 rs822020 G A 90.96 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.74;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GON4L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467009 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:123,9,0
1 155755097 rs822021 G A 1403.19 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.5;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GON4L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271883 GT:AD:DP:GQ:PL 1/1:0,46:46:99:1436,102,0
1 155755239 rs822022 T C 717.68 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.99;MQ0=0;QD=31.2;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GON4L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271883 GT:AD:DP:GQ:PL 1/1:0,23:23:63.19:751,63,0
1 155774599 rs822016 T C 203.19 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=55.21;MQ0=0;QD=20.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GON4L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271883 GT:AD:DP:GQ:PL 1/1:0,10:10:18.06:236,18,0
1 155784372 rs822013 G A 701.69 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.78;MQ0=0;QD=36.93;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GON4L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271883 GT:AD:DP:GQ:PL 1/1:0,19:19:57.18:735,57,0
1 155785578 rs3028172 CAACT C 869.73 PASS AC=2;AF=1.00;AN=2;DB;DP=16;FS=0.0;HRun=0;HaplotypeScore=84.0917;IndelType=D;MQ=51.45;MQ0=0;QD=54.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GON4L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271883 GT:AD:DP:GQ:PL 1/1:0,16:16:48.16:912,48,0
1 155822971 rs822490 C T 560.41 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.84;MQ0=0;QD=28.02;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GON4L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271883 GT:AD:DP:GQ:PL 1/1:0,20:20:48.15:593,48,0
1 155823002 rs822491 T C 888.45 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.17;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GON4L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271883 GT:AD:DP:GQ:PL 1/1:0,26:26:69.21:921,69,0
1 155829360 rs1749412 C A 376.04 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.43;MQ0=0;QD=31.34;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GON4L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271883 GT:AD:DP:GQ:PL 1/1:0,12:12:30.10:409,30,0
1 155837865 rs822522 G C 2052.67 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.65;SNPEFF_AMINO_ACID_CHANGE=Q48H;SNPEFF_CODON_CHANGE=caG/caC;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_155837756_155838582;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SYT11;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368324 GT:AD:DP:GQ:PL 1/1:0,61:61:99:2086,153,0
1 155838267 rs822521 T C 2303 PASS AC=2;AF=1.00;AN=2;DB;DP=70;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.9;SNPEFF_AMINO_ACID_CHANGE=H182;SNPEFF_CODON_CHANGE=caT/caC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_155837756_155838582;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SYT11;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000368324 GT:AD:DP:GQ:PL 1/1:0,69:70:99:2336,184,0
1 155850558 rs822508 T C 738.50 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.733;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.485;QD=29.54;ReadPosRankSum=-1.179;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SYT11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368324 GT:AD:DP:GQ:PL 1/1:1,24:25:33.42:772,33,0
1 155850811 rs822509 G A 524.11 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.76;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SYT11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368324 GT:AD:DP:GQ:PL 1/1:0,16:16:45.13:557,45,0
1 155870416 rs1749409 G A 2008.10 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.43;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RIT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368322 GT:AD:DP:GQ:PL 1/1:0,66:66:99:2041,166,0
1 155873960 rs1765275 A G 117.91 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.04;MQ0=0;QD=19.65;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RIT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368322 GT:AD:DP:GQ:PL 1/1:0,6:6:12.04:150,12,0
1 155880573 rs493446 C G 3076.50 PASS AC=2;AF=1.00;AN=2;DB;DP=81;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.72;MQ0=0;QD=37.98;SNPEFF_AMINO_ACID_CHANGE=E11Q;SNPEFF_CODON_CHANGE=Gag/Cag;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_155880447_155880595;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RIT1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368322 GT:AD:DP:GQ:PL 1/1:0,81:81:99:3109,235,0
1 155880760 rs5777961 C CA 992.22 PASS AC=2;AF=1.00;AN=2;DB;DP=23;FS=0.0;HRun=0;HaplotypeScore=46.1168;IndelType=I;MQ=60.47;MQ0=0;QD=43.14;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA0907;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368320 GT:AD:DP:GQ:PL 1/1:0,23:23:69.23:1034,69,0
1 155891045 rs625658 A C 354.08 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.41;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA0907;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368319 GT:AD:DP:GQ:PL 1/1:0,10:10:30.08:387,30,0
1 155899020 rs539602 A T 816.06 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.05;MQ0=0;QD=34.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA0907;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491599 GT:AD:DP:GQ:PL 1/1:0,24:24:72.20:849,72,0
1 155903310 rs4661150 T C 124.03 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=49.48;MQ0=0;QD=31.01;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA0907;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368319 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:157,12,0
1 155903408 rs4661151 C T 259.35 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.42;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA0907;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368319 GT:AD:DP:GQ:PL 1/1:0,8:8:24.07:292,24,0
1 155904177 rs2275079 T C 562.47 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.84;MQ0=0;QD=28.12;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA0907;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466713 GT:AD:DP:GQ:PL 1/1:0,20:20:45.15:595,45,0
1 155912486 rs2152051 T C 1136.05 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.84;MQ0=0;QD=28.4;SNPEFF_AMINO_ACID_CHANGE=L329S;SNPEFF_CODON_CHANGE=tTg/tCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_155911480_155912625;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RXFP4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368318 GT:AD:DP:GQ:PL 1/1:0,40:40:99:1169,99,0
1 155924505 rs4661162 A G 126.19 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.95;MQ0=0;QD=31.55;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462460 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:159,12,0
1 155928232 rs2364404 T C 350.98 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.25;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470874 GT:AD:DP:GQ:PL 1/1:0,12:12:30.09:384,30,0
1 155928242 rs2886069 C T 334.23 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.42;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470874 GT:AD:DP:GQ:PL 1/1:0,10:10:27.09:367,27,0
1 155931266 rs1964951 T C 289.61 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.74;MQ0=0;QD=36.2;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470874 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:323,24,0
1 155931368 rs4661175 G A 1041.10 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9734;MQ=58.79;MQ0=0;QD=34.7;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470874 GT:AD:DP:GQ:PL 1/1:0,30:30:81.26:1074,81,0
1 155981489 rs1475766 C G 2806.27 PASS AC=2;AF=1.00;AN=2;DB;DP=74;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.69;MQ0=0;QD=37.92;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SSR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466905 GT:AD:DP:GQ:PL 1/1:0,74:74:99:2839,217,0
1 156011444 rs2297792 T C 440.26 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.37;MQ0=0;QD=36.69;SNPEFF_AMINO_ACID_CHANGE=I148V;SNPEFF_CODON_CHANGE=Atc/Gtc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_156011276_156011462;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBQLN4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368307 GT:AD:DP:GQ:PL 1/1:0,12:12:36.12:473,36,0
1 156046763 . G T 61.80 PASS AB=0.619;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.606;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.21;MQ0=0;MQRankSum=-0.566;QD=2.94;ReadPosRankSum=-0.566;SNPEFF_AMINO_ACID_CHANGE=P389T;SNPEFF_CODON_CHANGE=Ccc/Acc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_156046280_156047473;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MEX3A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000532414 GT:AD:DP:GQ:PL 0/1:13,8:21:91.79:92,0,362
1 156132909 rs143862668 GCA G 489.52 PASS AB=0.696;AC=1;AF=0.50;AN=2;BaseQRankSum=4.635;DB;DP=32;FS=0.0;HRun=0;HaplotypeScore=98.3218;IndelType=D;MQ=60.0;MQ0=0;MQRankSum=-0.478;QD=15.3;ReadPosRankSum=-0.104;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SEMA4A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000414683 GT:AD:DP:GQ:PL 0/1:18,14:32:99:529,0,783
1 156146218 rs12401573 C T 261.05 PASS AB=0.577;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.301;DB;DP=26;Dels=0.0;FS=9.558;HRun=0;HaplotypeScore=0.9998;MQ=59.11;MQ0=0;MQRankSum=0.739;QD=10.04;ReadPosRankSum=0.082;SNPEFF_AMINO_ACID_CHANGE=P440;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_156146196_156147534;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SEMA4A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000368284 GT:AD:DP:GQ:PL 0/1:15,11:26:99:291,0,470
1 156169610 rs2072499 A G 579.05 PASS AB=0.548;AC=1;AF=0.50;AN=2;BaseQRankSum=1.845;DB;DP=42;Dels=0.0;FS=14.15;HRun=0;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=1.112;QD=13.79;ReadPosRankSum=-0.076;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC25A44;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359511 GT:AD:DP:GQ:PL 0/1:23,19:42:99:609,0,679
1 156182710 rs2241107 T C 109.37 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=1.133;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.734;MQ=57.87;MQ0=0;MQRankSum=0.365;QD=9.94;ReadPosRankSum=-0.633;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC25A44;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359511 GT:AD:DP:GQ:PL 0/1:7,4:11:99:139,0,165
1 156202173 rs1052053 A G 1509.96 PASS AB=0.465;AC=1;AF=0.50;AN=2;BaseQRankSum=0.698;DB;DP=99;Dels=0.0;FS=3.982;HRun=0;HaplotypeScore=0.8941;MQ=59.39;MQ0=0;MQRankSum=0.656;QD=15.25;ReadPosRankSum=1.386;SNPEFF_AMINO_ACID_CHANGE=Q75R;SNPEFF_CODON_CHANGE=cAa/cGa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_156202111_156202216;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PMF1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000320139 GT:AD:DP:GQ:PL 0/1:46,53:99:99:1540,0,1325
1 156206121 rs1052067 G A 828.27 PASS AB=0.529;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.1;DB;DP=68;Dels=0.0;FS=0.922;HRun=0;HaplotypeScore=1.4972;MQ=59.11;MQ0=0;MQRankSum=-0.043;QD=12.18;ReadPosRankSum=0.141;SNPEFF_AMINO_ACID_CHANGE=M137I;SNPEFF_CODON_CHANGE=atG/atA;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_156206079_156206274;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PMF1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368277 GT:AD:DP:GQ:PL 0/1:36,32:68:99:858,0,1017
1 156247907 rs2248273 C T 264.81 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.03;DB;DP=21;Dels=0.0;FS=9.84;HRun=0;HaplotypeScore=0.0;MQ=58.89;MQ0=0;MQRankSum=0.462;QD=12.61;ReadPosRankSum=0.533;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMG5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361813 GT:AD:DP:GQ:PL 0/1:12,9:21:99:295,0,378
1 156255833 rs2842883 G C 1162.32 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9665;MQ=58.13;MQ0=0;QD=33.21;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C1orf85;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461597 GT:AD:DP:GQ:PL 1/1:1,34:35:93.29:1195,93,0
1 156264648 rs1570805 C T 1469.75 PASS AB=0.465;AC=1;AF=0.50;AN=2;BaseQRankSum=5.114;DB;DP=86;Dels=0.0;FS=4.392;HRun=0;HaplotypeScore=1.6439;MQ=59.46;MQ0=0;MQRankSum=-1.723;QD=17.09;ReadPosRankSum=-0.59;SNPEFF_AMINO_ACID_CHANGE=V94I;SNPEFF_CODON_CHANGE=Gtc/Atc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_156264550_156264807;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C1orf85;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000362007 GT:AD:DP:GQ:PL 0/1:40,46:86:99:1500,0,1014
1 156279210 rs3001784 T C 401.90 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.49;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CCT3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295688 GT:AD:DP:GQ:PL 1/1:0,12:12:33.11:435,33,0
1 156280296 rs149581010 GATAA G 243.33 PASS AB=0.647;AC=1;AF=0.50;AN=2;BaseQRankSum=1.749;DB;DP=11;FS=0.0;HRun=0;HaplotypeScore=59.4736;IndelType=D;MQ=59.88;MQ0=0;MQRankSum=0.717;QD=22.12;ReadPosRankSum=0.466;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CCT3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295688 GT:AD:DP:GQ:PL 0/1:5,6:11:99:282,0,336
1 156287360 rs2249790 C T 866.48 PASS AB=0.508;AC=1;AF=0.50;AN=2;BaseQRankSum=2.131;DB;DP=59;Dels=0.0;FS=2.971;HRun=1;HaplotypeScore=3.6533;MQ=58.82;MQ0=0;MQRankSum=-0.28;QD=14.69;ReadPosRankSum=-0.389;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CCT3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000413555 GT:AD:DP:GQ:PL 0/1:30,29:59:99:896,0,969
1 156303527 rs2764402 C T 135.17 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=2.359;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.29;MQ0=0;MQRankSum=-0.825;QD=12.29;ReadPosRankSum=0.466;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CCT3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000489870 GT:AD:DP:GQ:PL 0/1:6,5:11:99:165,0,171
1 156347131 rs2245623 G A 2329.19 PASS AC=2;AF=1.00;AN=2;DB;DP=72;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.1;MQ0=0;QD=32.35;SNPEFF_AMINO_ACID_CHANGE=G76D;SNPEFF_CODON_CHANGE=gGc/gAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_156347092_156347278;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=RHBG;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368246 GT:AD:DP:GQ:PL 1/1:0,72:72:99:2362,178,0
1 156348344 rs2842851 C T 92.66 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.89;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=RHBG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000255013 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:125,9,0
1 156351066 rs942679 C A 422.96 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.25;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=RHBG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000255013 GT:AD:DP:GQ:PL 1/1:0,12:12:33.11:456,33,0
1 156354347 rs71591938 TC T 651.50 PASS AB=0.713;AC=1;AF=0.50;AN=2;BaseQRankSum=6.445;DB;DP=82;FS=0.0;HRun=8;HaplotypeScore=313.4439;IndelType=D;MQ=60.26;MQ0=0;MQRankSum=0.736;QD=7.95;ReadPosRankSum=0.015;SNPEFF_EFFECT=FRAME_SHIFT;SNPEFF_EXON_ID=exon_1_156354318_156354392;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=RHBG;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000255013 GT:AD:DP:GQ:PL 0/1:49,33:82:99:691,0,1433
1 156354367 rs6668857 A G 732.49 PASS AB=0.618;AC=1;AF=0.50;AN=2;BaseQRankSum=0.075;DB;DP=77;Dels=0.0;FS=0.924;HRun=0;HaplotypeScore=0.7887;MQ=60.14;MQ0=0;MQRankSum=0.994;QD=9.51;ReadPosRankSum=0.31;SNPEFF_AMINO_ACID_CHANGE=H427R;SNPEFF_CODON_CHANGE=cAc/cGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_156354351_156354392;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=RHBG;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368246 GT:AD:DP:GQ:PL 0/1:47,29:77:99:762,0,1421
1 156376680 rs6662064 A G 1299.73 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=1.9648;MQ=58.84;MQ0=0;QD=32.49;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf61;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000476966 GT:AD:DP:GQ:PL 1/1:1,39:40:99:1333,108,0
1 156444754 . C G 462.50 PASS AB=0.55;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.934;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9979;MQ=60.0;MQ0=0;MQRankSum=1.4;QD=11.56;ReadPosRankSum=-0.421;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MEF2D;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000493077 GT:AD:DP:GQ:PL 0/1:22,18:40:99:492,0,802
1 156446242 rs2274316 C A 127.27 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=0.825;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.87;MQ0=0;MQRankSum=0.717;QD=11.57;ReadPosRankSum=0.825;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MEF2D;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000493077 GT:AD:DP:GQ:PL 0/1:6,5:11:99:157,0,207
1 156446903 rs2274317 T C 294.18 PASS AB=0.45;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.38;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.4679;MQ=56.92;MQ0=0;MQRankSum=1.899;QD=12.79;ReadPosRankSum=1.14;SNPEFF_AMINO_ACID_CHANGE=P206;SNPEFF_CODON_CHANGE=ccA/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_156446804_156446994;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MEF2D;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000353795 GT:AD:DP:GQ:PL 0/1:9,11:23:99:324,0,239
1 156450719 rs1185700 G A 761.46 PASS AB=0.525;AC=1;AF=0.50;AN=2;BaseQRankSum=1.8;DB;DP=60;Dels=0.0;FS=5.483;HRun=0;HaplotypeScore=0.0;MQ=59.23;MQ0=0;MQRankSum=-0.718;QD=12.69;ReadPosRankSum=-1.09;SNPEFF_AMINO_ACID_CHANGE=P101;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_156450626_156450763;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MEF2D;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000348159 GT:AD:DP:GQ:PL 0/1:31,28:60:99:791,0,766
1 156450740 rs1925950 G A 877.08 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=2.924;DB;DP=61;Dels=0.0;FS=5.399;HRun=0;HaplotypeScore=1.9156;MQ=59.24;MQ0=0;MQRankSum=-1.574;QD=14.38;ReadPosRankSum=-0.63;SNPEFF_AMINO_ACID_CHANGE=N94;SNPEFF_CODON_CHANGE=aaC/aaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_156450626_156450763;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MEF2D;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000348159 GT:AD:DP:GQ:PL 0/1:25,35:61:99:907,0,605
1 156450873 rs2274319 T C 261.77 PASS AB=0.421;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.353;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.372;QD=13.78;ReadPosRankSum=0.372;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MEF2D;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000489057 GT:AD:DP:GQ:PL 0/1:8,11:19:99:292,0,281
1 156452093 rs1171558 G A 44.97 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.95;MQ0=0;MQRankSum=1.026;QD=11.24;ReadPosRankSum=-1.026;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MEF2D;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000489057 GT:AD:DP:GQ:PL 0/1:2,2:4:28.77:75,0,29
1 156452783 rs1171559 A T 146.05 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.21;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MEF2D;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000489057 GT:AD:DP:GQ:PL 1/1:0,5:5:15.02:179,15,0
1 156452870 rs2282286 G A 489.14 PASS AB=0.385;AC=1;AF=0.50;AN=2;BaseQRankSum=3.522;DB;DP=26;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.582;QD=18.81;ReadPosRankSum=0.804;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MEF2D;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000489057 GT:AD:DP:GQ:PL 0/1:10,16:26:99:519,0,226
1 156496188 rs6427315 A G 171.02 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.2;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IQGAP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361170 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:204,15,0
1 156503541 rs6699212 T C 127 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=56.04;MQ0=0;QD=21.17;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IQGAP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000476565 GT:AD:DP:GQ:PL 1/1:0,6:6:12.04:159,12,0
1 156509552 rs1171570 C G 615.22 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.18;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IQGAP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361170 GT:AD:DP:GQ:PL 1/1:0,18:18:48.16:648,48,0
1 156518556 rs137902823 G A 237.90 PASS AB=0.55;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.164;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.511;QD=11.89;ReadPosRankSum=-0.449;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IQGAP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361170 GT:AD:DP:GQ:PL 0/1:11,9:20:99:268,0,330
1 156520173 rs1778819 T A 330.65 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.66;MQ0=0;QD=33.06;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IQGAP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361170 GT:AD:DP:GQ:PL 1/1:0,10:10:27.09:364,27,0
1 156526234 rs2489139 C T 253.70 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.71;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IQGAP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361170 GT:AD:DP:GQ:PL 1/1:0,8:8:21.07:287,21,0
1 156526387 rs11264498 C G 1171.72 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=59.36;MQ0=0;QD=32.55;SNPEFF_AMINO_ACID_CHANGE=V410L;SNPEFF_CODON_CHANGE=Gtg/Ctg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_156526325_156526485;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IQGAP3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000361170 GT:AD:DP:GQ:PL 1/1:0,36:36:93.27:1205,93,0
1 156526444 rs2488269 T C 1194.69 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.84;MQ0=0;QD=29.87;SNPEFF_AMINO_ACID_CHANGE=R391G;SNPEFF_CODON_CHANGE=Aga/Gga;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_156526325_156526485;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IQGAP3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000361170 GT:AD:DP:GQ:PL 1/1:0,40:40:93.30:1228,93,0
1 156531474 rs1171544 A G 51.75 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IQGAP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361170 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:83,6,0
1 156531871 rs1171545 A G 497.67 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IQGAP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361170 GT:AD:DP:GQ:PL 1/1:0,14:14:39.13:531,39,0
1 156532207 rs1171546 T C 93.25 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.08;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IQGAP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361170 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:125,9,0
1 156532344 rs7548309 T G 885.90 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.07;MQ0=0;QD=35.44;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IQGAP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361170 GT:AD:DP:GQ:PL 1/1:0,25:25:69.23:919,69,0
1 156532733 rs4661183 T C 446.19 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=54.84;MQ0=0;QD=31.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IQGAP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361170 GT:AD:DP:GQ:PL 1/1:0,14:14:39.09:479,39,0
1 156532908 rs16837492 C A 3987.46 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.587;DB;DP=134;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.9998;MQ=59.27;MQ0=0;MQRankSum=1.257;QD=29.76;ReadPosRankSum=0.903;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IQGAP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361170 GT:AD:DP:GQ:PL 1/1:2,132:134:99:3987,283,0
1 156532977 rs1171547 T C 3550.80 PASS AC=2;AF=1.00;AN=2;DB;DP=102;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.73;MQ0=0;QD=34.81;SNPEFF_AMINO_ACID_CHANGE=Q249;SNPEFF_CODON_CHANGE=caA/caG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_156532926_156533104;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IQGAP3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000361170 GT:AD:DP:GQ:PL 1/1:0,102:102:99:3551,271,0
1 156534525 rs4661184 A C 1306.60 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.38;MQ0=0;QD=35.31;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IQGAP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361170 GT:AD:DP:GQ:PL 1/1:0,37:37:99:1340,99,0
1 156534539 rs4661185 G A 1008.82 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.28;MQ0=0;QD=31.53;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IQGAP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361170 GT:AD:DP:GQ:PL 1/1:0,32:32:87.21:1042,87,0
1 156536123 rs2066378 T C 669.67 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.88;MQ0=0;QD=33.48;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IQGAP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361170 GT:AD:DP:GQ:PL 1/1:0,20:20:54.17:703,54,0
1 156536133 rs4382715 A G 674.69 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.08;MQ0=0;QD=30.67;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IQGAP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361170 GT:AD:DP:GQ:PL 1/1:0,22:22:54.18:708,54,0
1 156536221 rs2066377 G C 956.18 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.15;SNPEFF_AMINO_ACID_CHANGE=P81;SNPEFF_CODON_CHANGE=ccC/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_156536182_156536338;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IQGAP3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000361170 GT:AD:DP:GQ:PL 1/1:0,28:28:78.24:989,78,0
1 156536251 rs947662 T C 821.03 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.7;SNPEFF_AMINO_ACID_CHANGE=L71;SNPEFF_CODON_CHANGE=ctA/ctG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_156536182_156536338;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IQGAP3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000361170 GT:AD:DP:GQ:PL 1/1:0,23:23:63.21:854,63,0
1 156536353 rs947663 A G 413.51 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.54;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IQGAP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361170 GT:AD:DP:GQ:PL 1/1:0,14:14:33.11:447,33,0
1 156539154 rs6427319 T C 299.79 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=56.04;MQ0=0;QD=24.98;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IQGAP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361170 GT:AD:DP:GQ:PL 1/1:0,12:12:27.08:333,27,0
1 156552720 rs6688600 T G 157.23 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.21;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC24;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368236 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:190,15,0
1 156556321 rs10796961 G A 453.17 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.63;MQ0=0;QD=26.66;SNPEFF_AMINO_ACID_CHANGE=S576;SNPEFF_CODON_CHANGE=tcG/tcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_156556261_156556562;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC24;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000368236 GT:AD:DP:GQ:PL 1/1:0,17:17:36.12:486,36,0
1 156561651 rs7516274 G C 532.59 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=54.53;MQ0=0;QD=33.29;SNPEFF_AMINO_ACID_CHANGE=V19L;SNPEFF_CODON_CHANGE=Gtg/Ctg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_156561570_156561778;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=APOA1BP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368233 GT:AD:DP:GQ:PL 1/1:0,15:16:45.14:566,45,0
1 156562008 rs1925949 G A 1176.90 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.43;MQ0=0;QD=35.66;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPATCH4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368229 GT:AD:DP:GQ:PL 1/1:0,33:33:90.27:1210,90,0
1 156562143 rs942959 G A 757.99 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.8675;MQ=60.0;MQ0=0;QD=31.58;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPATCH4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368229 GT:AD:DP:GQ:PL 1/1:2,22:24:60.19:791,60,0
1 156563025 rs942962 A G 82.70 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.57;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=APOA1BP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467374 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:115,9,0
1 156563375 rs6427321 G A 885 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.614;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.9273;MQ=56.74;MQ0=0;MQRankSum=1.614;QD=30.52;ReadPosRankSum=1.375;SNPEFF_AMINO_ACID_CHANGE=G231E;SNPEFF_CODON_CHANGE=gGg/gAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_156563200_156563668;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=APOA1BP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368233 GT:AD:DP:GQ:PL 1/1:1,28:29:72.23:918,72,0
1 156563726 rs6427322 A C 3855.98 PASS AC=2;AF=1.00;AN=2;DB;DP=112;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9973;MQ=60.0;MQ0=0;QD=34.43;SNPEFF_AMINO_ACID_CHANGE=I221L;SNPEFF_CODON_CHANGE=Atc/Ctc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_156563674_156563923;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=APOA1BP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368234 GT:AD:DP:GQ:PL 1/1:0,112:112:99:3856,286,0
1 156563813 rs6668178 G A 2953.51 PASS AC=2;AF=1.00;AN=2;DB;DP=90;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.2434;MQ=59.74;MQ0=0;QD=32.82;SNPEFF_AMINO_ACID_CHANGE=E250K;SNPEFF_CODON_CHANGE=Gaa/Aaa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_156563674_156563923;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=APOA1BP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368234 GT:AD:DP:GQ:PL 1/1:0,90:90:99:2987,223,0
1 156563852 rs942963 C T 2237.15 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;QD=33.39;SNPEFF_AMINO_ACID_CHANGE=T281;SNPEFF_CODON_CHANGE=acC/acT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_156563674_156564091;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=APOA1BP;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000368235 GT:AD:DP:GQ:PL 1/1:0,67:67:99:2270,166,0
1 156563898 rs1270 T C 1298.40 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.67;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=APOA1BP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368233 GT:AD:DP:GQ:PL 1/1:0,41:41:99:1331,108,0
1 156563992 rs1271 C G 256.93 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.7;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=APOA1BP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368233 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:290,21,0
1 156564640 rs3795732 G A 602.90 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.78;MQ0=0;QD=31.73;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=APOA1BP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368233 GT:AD:DP:GQ:PL 1/1:0,19:19:48.16:636,48,0
1 156564922 rs3795733 C T 2573.41 PASS AC=2;AF=1.00;AN=2;DB;DP=71;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.35;MQ0=0;QD=36.25;SNPEFF_AMINO_ACID_CHANGE=G399S;SNPEFF_CODON_CHANGE=Ggc/Agc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_156564779_156565048;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPATCH4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368229 GT:AD:DP:GQ:PL 1/1:0,71:71:99:2606,193,0
1 156565049 rs72559129 A AAC 6779.90 PASS AC=2;AF=1.00;AN=2;DB;DP=121;FS=0.0;HRun=0;HaplotypeScore=305.3154;IndelType=I;MQ=60.52;MQ0=0;QD=56.03;SNPEFF_EFFECT=FRAME_SHIFT;SNPEFF_EXON_ID=exon_1_156565050_156565641;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPATCH4;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000368229 GT:AD:DP:GQ:PL 1/1:2,115:121:99:6780,355,0
1 156567496 rs879461 C T 281.29 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.05;MQ0=0;QD=35.16;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=APOA1BP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368233 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:314,24,0
1 156617968 rs2277873 G A 680.48 PASS AB=0.405;AC=1;AF=0.50;AN=2;BaseQRankSum=0.948;DB;DP=42;Dels=0.0;FS=9.205;HRun=0;HaplotypeScore=0.9998;MQ=59.0;MQ0=0;MQRankSum=0.102;QD=16.2;ReadPosRankSum=-1.23;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BCAN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000441358 GT:AD:DP:GQ:PL 0/1:17,25:42:99:710,0,516
1 156618768 rs4661209 T G 100.58 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=9;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.159;QD=11.18;ReadPosRankSum=0.729;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BCAN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000424639 GT:AD:DP:GQ:PL 0/1:5,4:9:99:131,0,174
1 156622252 rs1056695 G A 147.88 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.684;DB;DP=8;Dels=0.0;FS=3.332;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.517;QD=18.48;ReadPosRankSum=-0.322;SNPEFF_AMINO_ACID_CHANGE=E443K;SNPEFF_CODON_CHANGE=Gag/Aag;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_156622040_156622684;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BCAN;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000255029 GT:AD:DP:GQ:PL 0/1:3,5:8:99:178,0,101
1 156626920 rs7524611 T C 335.74 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.734;MQ=52.81;MQ0=0;QD=19.75;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BCAN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361588 GT:AD:DP:GQ:PL 1/1:0,17:17:30.09:369,30,0
1 156628717 rs951964 C A 127.38 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.85;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BCAN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000255029 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:160,12,0
1 156629037 rs11360 A G 54.05 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.02;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BCAN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000496038 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:85,6,0
1 156641537 rs951781 C T 1898.62 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.666;DB;DP=52;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9992;MQ=60.0;MQ0=0;MQRankSum=-1.199;QD=36.51;ReadPosRankSum=0.267;SNPEFF_AMINO_ACID_CHANGE=V815I;SNPEFF_CODON_CHANGE=Gta/Ata;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_156638555_156642997;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NES;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368223 GT:AD:DP:GQ:PL 1/1:1,51:52:99:1932,108,0
1 156646668 rs4278369 A G 347.60 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.74;SNPEFF_AMINO_ACID_CHANGE=V130A;SNPEFF_CODON_CHANGE=gTg/gCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_156646274_156647189;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NES;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000255024 GT:AD:DP:GQ:PL 1/1:0,13:13:27.09:381,27,0
1 156670545 rs4661213 C T 495.41 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.55;MQ0=0;QD=30.96;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRABP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368220 GT:AD:DP:GQ:PL 1/1:0,16:16:42.10:528,42,0
1 156670983 rs7519545 T C 282.08 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.34;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRABP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368220 GT:AD:DP:GQ:PL 1/1:0,9:9:27.08:315,27,0
1 156693135 rs1133856 C T 950.38 PASS AB=0.468;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.407;DB;DP=62;Dels=0.0;FS=3.594;HRun=1;HaplotypeScore=3.2621;MQ=58.88;MQ0=0;MQRankSum=0.407;QD=15.33;ReadPosRankSum=-0.6;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ISG20L2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469074 GT:AD:DP:GQ:PL 0/1:29,33:62:99:980,0,907
1 156697056 rs3795737 T C 1500.88 PASS AB=0.442;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.761;DB;DP=86;Dels=0.0;FS=3.093;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.17;QD=17.45;ReadPosRankSum=0.457;SNPEFF_AMINO_ACID_CHANGE=N130S;SNPEFF_CODON_CHANGE=aAt/aGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_156696698_156698227;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ISG20L2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000313146 GT:AD:DP:GQ:PL 0/1:38,48:86:99:1531,0,1264
1 156703456 rs10908518 G C 153.54 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.71;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MRPL24;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361531 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:186,15,0
1 156705593 rs4311877 G C 1943.16 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.5449;MQ=59.59;MQ0=0;QD=34.7;SNPEFF_AMINO_ACID_CHANGE=V400L;SNPEFF_CODON_CHANGE=Gtg/Ctg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_156705517_156705701;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RRNAD1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368216 GT:AD:DP:GQ:PL 1/1:0,56:56:99:1976,147,0
1 156706559 rs8658 A G 903.92 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.14;MQ0=0;QD=33.48;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MRPL24;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361531 GT:AD:DP:GQ:PL 1/1:0,27:27:72.21:937,72,0
1 156707128 rs140737064 AAG A 908.89 PASS AB=0.676;AC=1;AF=0.50;AN=2;BaseQRankSum=5.352;DB;DP=50;FS=1.174;HRun=0;HaplotypeScore=156.28;IndelType=D;MQ=59.17;MQ0=0;MQRankSum=-0.734;QD=18.18;ReadPosRankSum=-0.585;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HDGF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357325 GT:AD:DP:GQ:PL 0/1:26,24:50:99:948,0,1146
1 156707775 rs6670122 T G 299.34 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.93;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HDGF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357325 GT:AD:DP:GQ:PL 1/1:0,10:10:27.07:332,27,0
1 156713512 rs4437869 C T 646.53 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.03;SNPEFF_AMINO_ACID_CHANGE=E184;SNPEFF_CODON_CHANGE=gaG/gaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_156713444_156713670;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HDGF;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000416666 GT:AD:DP:GQ:PL 1/1:0,19:19:54.16:680,54,0
1 156713558 rs4399146 G A 281.86 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.527;DB;DP=24;Dels=0.0;FS=1.792;HRun=0;HaplotypeScore=0.0;MQ=58.84;MQ0=0;MQRankSum=-0.651;QD=11.74;ReadPosRankSum=0.403;SNPEFF_AMINO_ACID_CHANGE=P169L;SNPEFF_CODON_CHANGE=cCc/cTc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_156713444_156713670;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HDGF;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000416666 GT:AD:DP:GQ:PL 0/1:14,10:24:99:312,0,389
1 156721032 rs12030654 T A 31.91 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.38;QD=5.32;ReadPosRankSum=0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HDGF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357325 GT:AD:DP:GQ:PL 0/1:4,2:6:61.90:62,0,135
1 156752252 rs2274501 G A 35.94 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=0.55;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.3;QD=5.13;ReadPosRankSum=-0.937;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PRCC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271526 GT:AD:DP:GQ:PL 0/1:4,3:7:65.93:66,0,143
1 156761618 rs2644615 C T 289.39 PASS AB=0.657;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.712;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.34;MQ0=0;MQRankSum=0.703;QD=8.27;ReadPosRankSum=0.919;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PRCC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473387 GT:AD:DP:GQ:PL 0/1:23,12:35:99:319,0,696
1 156767253 rs6701637 C T 166.40 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=1.27;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.55;MQ0=0;MQRankSum=1.164;QD=10.4;ReadPosRankSum=-0.423;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PRCC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000459707 GT:AD:DP:GQ:PL 0/1:9,7:16:99:196,0,296
1 156838141 rs1800879 T C 148.49 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.7;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NTRK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000533630 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:181,15,0
1 156841259 rs2644614 A C 803.07 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.99;MQ0=0;QD=34.92;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NTRK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358660 GT:AD:DP:GQ:PL 1/1:0,23:23:63.20:836,63,0
1 156848794 rs2768756 C T 378.54 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.87;MQ0=0;QD=34.41;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NTRK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000534682 GT:AD:DP:GQ:PL 1/1:0,11:11:33.09:412,33,0
1 156848808 rs2768757 T C 344.09 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=58.05;MQ0=0;QD=28.67;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NTRK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000534682 GT:AD:DP:GQ:PL 1/1:0,12:12:30.09:377,30,0
1 156848832 rs144200331 C T 198.19 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.784;DB;DP=20;Dels=0.0;FS=5.614;HRun=0;HaplotypeScore=0.9665;MQ=58.84;MQ0=0;MQRankSum=-0.454;QD=9.91;ReadPosRankSum=0.95;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NTRK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000534682 GT:AD:DP:GQ:PL 0/1:12,8:20:99:228,0,345
1 156848995 rs6337 C T 616.08 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.45;MQ0=0;QD=30.8;SNPEFF_AMINO_ACID_CHANGE=A593;SNPEFF_CODON_CHANGE=gcC/gcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_156848914_156849154;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NTRK1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000392302 GT:AD:DP:GQ:PL 1/1:0,20:20:51.15:649,51,0
1 156850104 rs2274499 G C 85.84 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.61;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NTRK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000534682 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:118,9,0
1 156850112 rs2274500 T G 41.51 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=13.84;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NTRK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000534682 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:73,6,0
1 156873727 rs12407843 G A 971.64 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=2.786;DB;DP=55;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9469;MQ=58.98;MQ0=0;MQRankSum=-0.142;QD=17.67;ReadPosRankSum=0.426;SNPEFF_AMINO_ACID_CHANGE=P3;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_156873710_156873819;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PEAR1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000292357 GT:AD:DP:GQ:PL 0/1:22,33:55:99:1002,0,496
1 156874421 rs41267433 C G 208.07 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.289;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.536;QD=17.34;ReadPosRankSum=0.289;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PEAR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000292357 GT:AD:DP:GQ:PL 0/1:4,8:12:99:238,0,118
1 156875037 rs6676171 T G 73.70 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9916;MQ=56.62;MQ0=0;MQRankSum=0.55;QD=10.53;ReadPosRankSum=-1.754;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PEAR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000292357 GT:AD:DP:GQ:PL 0/1:3,4:7:98.84:104,0,99
1 156875092 rs4661074 G A 91.78 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=1.186;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.87;MQ0=0;MQRankSum=-0.717;QD=8.34;ReadPosRankSum=0.825;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PEAR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000292357 GT:AD:DP:GQ:PL 0/1:6,5:11:99:122,0,196
1 156875097 rs4661075 G A 105.25 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=1.408;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.87;MQ0=0;MQRankSum=-1.031;QD=9.57;ReadPosRankSum=0.717;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PEAR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000292357 GT:AD:DP:GQ:PL 0/1:6,5:11:99:135,0,190
1 156875107 rs2644590 C A 110.68 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.935;DB;DP=13;Dels=0.0;FS=2.522;HRun=0;HaplotypeScore=0.0;MQ=58.2;MQ0=0;MQRankSum=-0.811;QD=8.51;ReadPosRankSum=-0.66;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PEAR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000292357 GT:AD:DP:GQ:PL 0/1:6,7:13:99:141,0,206
1 156875377 rs2644591 G C 52.98 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=13.25;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PEAR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000292357 GT:AD:DP:GQ:PL 1/1:0,4:4:6.02:84,6,0
1 156875985 rs2644593 G A 284.85 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.39;MQ0=0;QD=31.65;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PEAR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000292357 GT:AD:DP:GQ:PL 1/1:0,9:9:24.08:318,24,0
1 156876206 rs6688345 G A 108.05 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.388;DB;DP=18;Dels=0.0;FS=2.452;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.421;QD=6.0;ReadPosRankSum=-0.702;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PEAR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000292357 GT:AD:DP:GQ:PL 0/1:12,6:18:99:138,0,410
1 156876221 rs6688349 G A 176.73 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=0.784;DB;DP=20;Dels=0.0;FS=2.527;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.784;QD=8.84;ReadPosRankSum=-0.206;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PEAR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000292357 GT:AD:DP:GQ:PL 0/1:12,8:20:99:207,0,374
1 156876237 rs6664765 C T 205.54 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.545;DB;DP=14;Dels=0.0;FS=6.368;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.406;QD=14.68;ReadPosRankSum=0.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PEAR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000292357 GT:AD:DP:GQ:PL 0/1:7,7:14:99:236,0,230
1 156876260 rs6664770 C T 166.19 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=0.529;DB;DP=12;Dels=0.0;FS=8.195;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.689;QD=13.85;ReadPosRankSum=0.244;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PEAR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000292357 GT:AD:DP:GQ:PL 0/1:5,7:12:99:196,0,149
1 156876373 rs6677442 A G 259.91 PASS AB=0.368;AC=1;AF=0.50;AN=2;BaseQRankSum=1.177;DB;DP=19;Dels=0.0;FS=2.702;HRun=4;HaplotypeScore=0.0;MQ=58.78;MQ0=0;MQRankSum=1.087;QD=13.68;ReadPosRankSum=-0.815;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PEAR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000292357 GT:AD:DP:GQ:PL 0/1:7,12:19:99:290,0,204
1 156876729 rs735953 T C 113.74 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.55;QD=16.25;ReadPosRankSum=1.3;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PEAR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000444016 GT:AD:DP:GQ:PL 0/1:3,4:7:99:144,0,102
1 156877249 rs6680819 A G 578.60 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.06;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.48;MQ0=0;MQRankSum=0.142;QD=16.07;ReadPosRankSum=1.408;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PEAR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000444016 GT:AD:DP:GQ:PL 0/1:18,18:36:99:609,0,593
1 156877457 rs1952294 T C 4239.60 PASS AC=2;AF=1.00;AN=2;DB;DP=133;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8941;MQ=59.48;MQ0=0;QD=31.88;SNPEFF_AMINO_ACID_CHANGE=S234P;SNPEFF_CODON_CHANGE=Tct/Cct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_156877402_156877522;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PEAR1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000292357 GT:AD:DP:GQ:PL 1/1:0,133:133:99:4240,322,0
1 156878531 rs11264580 T C 40.21 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.95;MQ0=0;MQRankSum=1.026;QD=10.05;ReadPosRankSum=-1.026;SNPEFF_AMINO_ACID_CHANGE=H400;SNPEFF_CODON_CHANGE=caT/caC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_156878447_156878621;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PEAR1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000292357 GT:AD:DP:GQ:PL 0/1:2,2:4:63.16:70,0,63
1 156878737 rs6671392 T C 448.27 PASS AB=0.578;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.447;DB;DP=46;Dels=0.0;FS=2.524;HRun=2;HaplotypeScore=1.9243;MQ=59.5;MQ0=0;MQRankSum=-1.229;QD=9.74;ReadPosRankSum=-0.678;SNPEFF_AMINO_ACID_CHANGE=P440;SNPEFF_CODON_CHANGE=ccT/ccC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_156878708_156878828;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PEAR1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000292357 GT:AD:DP:GQ:PL 0/1:26,19:46:99:478,0,764
1 156878887 rs11810027 G A 383.12 PASS AB=0.481;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.489;DB;DP=27;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.14;MQ0=0;MQRankSum=-1.774;QD=14.19;ReadPosRankSum=-0.18;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PEAR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000444016 GT:AD:DP:GQ:PL 0/1:13,14:27:99:413,0,356
1 156879504 rs41273205 A G 315.69 PASS AB=0.412;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.22;DB;DP=17;Dels=0.0;FS=2.702;HRun=0;HaplotypeScore=1.9445;MQ=58.9;MQ0=0;MQRankSum=0.439;QD=18.57;ReadPosRankSum=-0.146;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PEAR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000444016 GT:AD:DP:GQ:PL 0/1:7,10:17:99:346,0,238
1 156879580 rs3737224 C T 539.90 PASS AB=0.394;AC=1;AF=0.50;AN=2;BaseQRankSum=1.455;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.8727;MQ=59.32;MQ0=0;MQRankSum=-0.903;QD=15.88;ReadPosRankSum=-1.013;SNPEFF_AMINO_ACID_CHANGE=P483;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_156879543_156879706;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PEAR1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000292357 GT:AD:DP:GQ:PL 0/1:13,20:34:99:570,0,345
1 156881959 rs41273215 C T 252.37 PASS AB=0.421;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.372;DB;DP=19;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9159;MQ=60.0;MQ0=0;MQRankSum=-0.289;QD=13.28;ReadPosRankSum=0.372;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PEAR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000482505 GT:AD:DP:GQ:PL 0/1:8,11:19:99:282,0,207
1 156882996 rs822441 G C 712.58 PASS AB=0.614;AC=1;AF=0.50;AN=2;BaseQRankSum=4.983;DB;DP=71;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.2434;MQ=58.69;MQ0=0;MQRankSum=1.122;QD=10.04;ReadPosRankSum=-1.207;SNPEFF_AMINO_ACID_CHANGE=P811;SNPEFF_CODON_CHANGE=ccG/ccC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_156882986_156883074;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PEAR1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000292357 GT:AD:DP:GQ:PL 0/1:43,27:71:99:743,0,1172
1 156883215 rs822442 C A 572.38 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.958;DB;DP=42;Dels=0.0;FS=1.372;HRun=2;HaplotypeScore=0.0;MQ=59.45;MQ0=0;MQRankSum=-0.657;QD=13.63;ReadPosRankSum=0.438;SNPEFF_AMINO_ACID_CHANGE=N848K;SNPEFF_CODON_CHANGE=aaC/aaA;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_156883183_156883315;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PEAR1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000292357 GT:AD:DP:GQ:PL 0/1:18,24:42:99:602,0,496
1 156883493 rs11264581 G A 495.66 PASS AB=0.32;AC=1;AF=0.50;AN=2;BaseQRankSum=2.01;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.029;QD=19.83;ReadPosRankSum=1.311;SNPEFF_AMINO_ACID_CHANGE=R885H;SNPEFF_CODON_CHANGE=cGc/cAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_156883484_156883552;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PEAR1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000292357 GT:AD:DP:GQ:PL 0/1:8,17:25:99:526,0,159
1 156883546 rs12137505 A G 637.93 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.56;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9789;MQ=60.0;MQ0=0;MQRankSum=-0.897;QD=15.95;ReadPosRankSum=-2.084;SNPEFF_AMINO_ACID_CHANGE=N903D;SNPEFF_CODON_CHANGE=Aat/Gat;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_156883484_156883552;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PEAR1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000292357 GT:AD:DP:GQ:PL 0/1:16,24:40:99:668,0,504
1 156884365 rs749256 T C 1043.92 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.17;MQ0=0;QD=37.28;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PEAR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000482505 GT:AD:DP:GQ:PL 1/1:0,28:28:81.24:1077,81,0
1 156884584 rs56260937 C T 473.98 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.602;DB;DP=39;Dels=0.0;FS=1.817;HRun=0;HaplotypeScore=0.9999;MQ=59.41;MQ0=0;MQRankSum=-0.856;QD=12.15;ReadPosRankSum=-0.634;SNPEFF_AMINO_ACID_CHANGE=D1036;SNPEFF_CODON_CHANGE=gaC/gaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_156884439_156886226;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PEAR1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000292357 GT:AD:DP:GQ:PL 0/1:21,18:39:99:504,0,575
1 156894006 rs822438 C G 112.27 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRC71;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000337428 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:145,12,0
1 156894825 rs72698699 C T 71.33 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.159;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.361;QD=7.93;ReadPosRankSum=-1.159;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRC71;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000337428 GT:AD:DP:GQ:PL 0/1:5,4:9:99:101,0,180
1 156901888 rs822429 T C 441.44 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.175;DB;DP=38;Dels=0.0;FS=2.181;HRun=0;HaplotypeScore=0.0;MQ=58.78;MQ0=0;MQRankSum=1.565;QD=11.62;ReadPosRankSum=0.501;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315174 GT:AD:DP:GQ:PL 0/1:19,19:38:99:471,0,597
1 156902222 rs12119908 G A 871.86 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=4.207;DB;DP=60;Dels=0.0;FS=1.086;HRun=0;HaplotypeScore=0.9734;MQ=58.45;MQ0=0;MQRankSum=0.462;QD=14.53;ReadPosRankSum=0.174;SNPEFF_AMINO_ACID_CHANGE=R483H;SNPEFF_CODON_CHANGE=cGc/cAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_156902216_156902337;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRC71;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000337428 GT:AD:DP:GQ:PL 0/1:30,30:60:99:902,0,804
1 156902259 rs822430 G A 2542.20 PASS AC=2;AF=1.00;AN=2;DB;DP=74;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.06;MQ0=0;QD=34.35;SNPEFF_AMINO_ACID_CHANGE=T495;SNPEFF_CODON_CHANGE=acG/acA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_156902216_156902337;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRC71;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000337428 GT:AD:DP:GQ:PL 1/1:0,73:74:99:2575,196,0
1 156902281 rs822431 T G 1160.63 PASS AB=0.488;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.032;DB;DP=86;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9867;MQ=59.19;MQ0=0;MQRankSum=1.156;QD=13.5;ReadPosRankSum=-1.622;SNPEFF_AMINO_ACID_CHANGE=S503A;SNPEFF_CODON_CHANGE=Tcc/Gcc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_156902216_156902337;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRC71;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000337428 GT:AD:DP:GQ:PL 0/1:42,44:86:99:1191,0,1262
1 156902574 rs111602088 A AT 520.31 PASS AB=0.705;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.043;DB;DP=55;FS=1.21;HRun=11;HaplotypeScore=174.4246;IndelType=I;MQ=58.93;MQ0=0;MQRankSum=0.11;QD=9.46;ReadPosRankSum=-0.571;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315174 GT:AD:DP:GQ:PL 0/1:31,23:55:99:559,0,380
1 156906450 rs883232 A G 165.87 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.517;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.4538;MQ=60.0;MQ0=0;MQRankSum=-0.583;QD=13.82;ReadPosRankSum=1.813;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000492592 GT:AD:DP:GQ:PL 0/1:6,6:12:99:196,0,202
1 156906881 rs2275198 G A 705.59 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.605;DB;DP=42;Dels=0.0;FS=12.349;HRun=1;HaplotypeScore=0.9933;MQ=60.0;MQ0=0;MQRankSum=-1.029;QD=16.8;ReadPosRankSum=1.563;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRC71;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000337428 GT:AD:DP:GQ:PL 0/1:18,24:42:99:736,0,539
1 156906910 rs868187 C T 655.89 PASS AB=0.385;AC=1;AF=0.50;AN=2;BaseQRankSum=0.332;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=4.9594;MQ=59.41;MQ0=0;MQRankSum=-0.159;QD=16.82;ReadPosRankSum=1.285;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRC71;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000337428 GT:AD:DP:GQ:PL 0/1:15,24:39:99:686,0,413
1 156907031 rs4570419 C T 782.45 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.778;DB;DP=54;Dels=0.0;FS=15.517;HRun=2;HaplotypeScore=1.5226;MQ=59.14;MQ0=0;MQRankSum=-0.069;QD=14.49;ReadPosRankSum=0.796;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRC71;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000337428 GT:AD:DP:GQ:PL 0/1:27,27:54:99:812,0,795
1 156907081 rs945508 T C 1595.52 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.781;DB;DP=53;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.13;MQ0=0;MQRankSum=1.461;QD=30.1;ReadPosRankSum=0.645;SNPEFF_AMINO_ACID_CHANGE=H1427R;SNPEFF_CODON_CHANGE=cAt/cGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_156907041_156907288;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF11;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000361409 GT:AD:DP:GQ:PL 1/1:1,52:53:99:1629,100,0
1 156907115 rs63387061 T C 480.79 PASS AB=0.523;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.496;DB;DP=44;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8667;MQ=59.48;MQ0=0;MQRankSum=0.037;QD=10.93;ReadPosRankSum=-0.962;SNPEFF_AMINO_ACID_CHANGE=S1416G;SNPEFF_CODON_CHANGE=Agc/Ggc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_156907041_156907288;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF11;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000361409 GT:AD:DP:GQ:PL 0/1:23,21:44:99:511,0,788
1 156909303 rs3818807 T A 725 PASS AB=0.425;AC=1;AF=0.50;AN=2;BaseQRankSum=2.9;DB;DP=40;Dels=0.0;FS=1.344;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.356;QD=18.12;ReadPosRankSum=0.219;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315174 GT:AD:DP:GQ:PL 0/1:17,23:40:99:755,0,405
1 156909695 rs2275199 G A 271.16 PASS AB=0.476;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.38;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.77;MQ0=0;MQRankSum=-0.076;QD=12.91;ReadPosRankSum=-0.912;SNPEFF_AMINO_ACID_CHANGE=N1207;SNPEFF_CODON_CHANGE=aaC/aaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_156909340_156909702;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF11;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000361409 GT:AD:DP:GQ:PL 0/1:10,11:21:99:301,0,302
1 156911379 rs2275200 A G 149.73 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=1.203;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.001;QD=16.64;ReadPosRankSum=-0.573;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461678 GT:AD:DP:GQ:PL 0/1:3,6:9:65.89:180,0,66
1 156914070 rs16837807 C A 346.98 PASS AB=0.552;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.031;DB;DP=29;Dels=0.0;FS=1.786;HRun=1;HaplotypeScore=0.8941;MQ=56.74;MQ0=0;MQRankSum=0.066;QD=11.96;ReadPosRankSum=0.417;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461678 GT:AD:DP:GQ:PL 0/1:16,13:29:99:377,0,535
1 156914240 rs138051987 CCATT C 1056.65 PASS AC=2;AF=1.00;AN=2;DB;DP=47;FS=0.0;HRun=0;HaplotypeScore=252.1635;IndelType=D;MQ=56.2;MQ0=0;QD=22.48;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461678 GT:AD:DP:GQ:PL 1/1:22,20:47:75.22:1099,75,0
1 156915038 rs2275201 C T 392.32 PASS AB=0.483;AC=1;AF=0.50;AN=2;BaseQRankSum=0.299;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.299;QD=13.53;ReadPosRankSum=0.253;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461678 GT:AD:DP:GQ:PL 0/1:14,15:29:99:422,0,404
1 156915209 rs17410711 C A 48.08 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.04;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461678 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
1 156916640 rs111988963 G GCCTATCCCTT 6622.07 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.513;DB;DP=115;FS=1.627;HRun=0;HaplotypeScore=828.8114;IndelType=I;MQ=51.49;MQ0=0;MQRankSum=-6.068;QD=57.58;ReadPosRankSum=-1.958;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315174 GT:AD:DP:GQ:PL 0/1:69,32:115:99:6622,0,4546
1 156925435 rs2275204 T C 891.16 PASS AB=0.565;AC=1;AF=0.50;AN=2;BaseQRankSum=1.141;DB;DP=69;Dels=0.0;FS=2.003;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=1.463;QD=12.92;ReadPosRankSum=-1.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000486670 GT:AD:DP:GQ:PL 0/1:39,30:69:99:921,0,1344
1 156927751 rs12132684 T C 63.37 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.248;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.573;QD=7.04;ReadPosRankSum=0.573;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361409 GT:AD:DP:GQ:PL 0/1:6,3:9:93.36:93,0,215
1 156928776 rs1572409 A T 485.44 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.101;DB;DP=24;Dels=0.0;FS=1.706;HRun=0;HaplotypeScore=0.0;MQ=59.03;MQ0=0;MQRankSum=-0.298;QD=20.23;ReadPosRankSum=-0.596;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361409 GT:AD:DP:GQ:PL 0/1:9,15:24:99:515,0,260
1 156930053 rs56372341 C T 53.37 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.637;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9469;MQ=60.0;MQ0=0;MQRankSum=-0.6;QD=4.45;ReadPosRankSum=-1.239;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361409 GT:AD:DP:GQ:PL 0/1:8,4:12:83.36:83,0,299
1 156939067 rs2275206 G A 36.69 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.55;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=5.24;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361409 GT:AD:DP:GQ:PL 0/1:4,3:7:66.68:67,0,141
1 156939175 rs1336149 C T 72.41 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361409 GT:AD:DP:GQ:PL 1/1:0,3:3:9.01:104,9,0
1 156941412 rs12136088 T G 592.75 PASS AB=0.603;AC=1;AF=0.50;AN=2;BaseQRankSum=-6.053;DB;DP=74;Dels=0.0;FS=3.316;HRun=1;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=0.218;QD=8.01;ReadPosRankSum=-1.912;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361409 GT:AD:DP:GQ:PL 0/1:44,29:74:99:623,0,1419
1 156946898 rs1006168 T G 224.91 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=2.739;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.119;QD=11.25;ReadPosRankSum=1.273;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361409 GT:AD:DP:GQ:PL 0/1:12,8:20:99:255,0,391
1 156947928 rs16837897 T C 141.80 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=2.181;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.143;QD=12.89;ReadPosRankSum=-0.143;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361409 GT:AD:DP:GQ:PL 0/1:6,5:11:99:172,0,177
1 156947953 rs12141806 A T 221.61 PASS AB=0.529;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.722;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=-0.722;QD=13.04;ReadPosRankSum=0.241;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361409 GT:AD:DP:GQ:PL 0/1:9,8:17:99:252,0,245
1 156948956 rs79248272 CCCT C 388.34 PASS AB=0.655;AC=1;AF=0.50;AN=2;BaseQRankSum=2.899;DB;DP=19;FS=0.0;HRun=0;HaplotypeScore=76.6712;IndelType=D;MQ=56.18;MQ0=0;MQRankSum=0.939;QD=20.44;ReadPosRankSum=0.122;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361409 GT:AD:DP:GQ:PL 0/1:9,10:19:99:427,0,554
1 156954267 rs6427339 C T 133.49 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361409 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:166,12,0
1 156956057 rs3737599 T C 175.94 PASS AB=0.273;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.382;QD=15.99;ReadPosRankSum=-0.382;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361409 GT:AD:DP:GQ:PL 0/1:3,8:11:94:206,0,94
1 157030204 rs3795741 G T 463.52 PASS AB=0.587;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.494;DB;DP=46;Dels=0.0;FS=1.158;HRun=2;HaplotypeScore=0.0;MQ=59.59;MQ0=0;MQRankSum=1.819;QD=10.08;ReadPosRankSum=-0.776;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP11-110J1.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000379752 GT:AD:DP:GQ:PL 0/1:27,19:46:99:494,0,781
1 157069134 rs61730132 G A 627.62 PASS AB=0.532;AC=1;AF=0.50;AN=2;BaseQRankSum=0.608;DB;DP=47;Dels=0.0;FS=6.381;HRun=1;HaplotypeScore=0.9734;MQ=49.02;MQ0=0;MQRankSum=0.267;QD=13.35;ReadPosRankSum=-1.972;SNPEFF_AMINO_ACID_CHANGE=S32L;SNPEFF_CODON_CHANGE=tCg/tTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_157068933_157069170;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ETV3L;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000454449 GT:AD:DP:GQ:PL 0/1:25,22:47:99:658,0,763
1 157485275 rs3811036 T G 54.88 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.453;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=57.87;MQ0=0;MQRankSum=0.103;QD=4.99;ReadPosRankSum=-1.951;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FCRL5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000483875 GT:AD:DP:GQ:PL 0/1:5,6:11:84.87:85,0,176
1 157485429 rs60516051 C G 1639.18 PASS AB=0.437;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.787;DB;DP=103;Dels=0.0;FS=1.724;HRun=1;HaplotypeScore=2.3919;MQ=60.0;MQ0=0;MQRankSum=1.078;QD=15.91;ReadPosRankSum=0.166;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FCRL5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000483875 GT:AD:DP:GQ:PL 0/1:45,58:103:99:1669,0,1237
1 157485504 rs115493285 G A 1947.49 PASS AB=0.461;AC=1;AF=0.50;AN=2;BaseQRankSum=3.072;DB;DP=115;Dels=0.0;FS=0.739;HRun=0;HaplotypeScore=1.9243;MQ=59.8;MQ0=0;MQRankSum=-0.435;QD=16.93;ReadPosRankSum=1.069;SNPEFF_AMINO_ACID_CHANGE=S965;SNPEFF_CODON_CHANGE=tcC/tcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_157485041_157485554;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FCRL5;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000356953 GT:AD:DP:GQ:PL 0/1:53,62:115:99:1977,0,1572
1 157485561 rs3811035 G A 1062.45 PASS AB=0.477;AC=1;AF=0.50;AN=2;BaseQRankSum=1.32;DB;DP=65;Dels=0.0;FS=3.784;HRun=1;HaplotypeScore=1.9658;MQ=60.0;MQ0=0;MQRankSum=-1.267;QD=16.35;ReadPosRankSum=-0.86;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FCRL5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000483875 GT:AD:DP:GQ:PL 0/1:31,34:65:99:1092,0,1042
1 157485720 rs1002967 T C 479.60 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.21;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FCRL5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000483875 GT:AD:DP:GQ:PL 1/1:0,17:17:42.13:513,42,0
1 157489516 rs1332714 T G 341.16 PASS AB=0.552;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.11;DB;DP=29;Dels=0.0;FS=1.562;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.206;QD=11.76;ReadPosRankSum=-0.592;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FCRL5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368190 GT:AD:DP:GQ:PL 0/1:16,13:29:99:371,0,478
1 157490710 rs6696309 G A 151.16 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.196;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.289;QD=7.56;ReadPosRankSum=0.371;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FCRL5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368190 GT:AD:DP:GQ:PL 0/1:14,6:20:99:181,0,479
1 157491173 rs6427383 T A 91.07 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.536;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.536;QD=7.59;ReadPosRankSum=0.536;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FCRL5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368190 GT:AD:DP:GQ:PL 0/1:8,4:12:99:121,0,267
1 157497263 rs3761961 T C 227.33 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.42;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FCRL5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368189 GT:AD:DP:GQ:PL 1/1:0,8:8:21.05:260,21,0
1 157508660 rs2012425 A G 93.43 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.14;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FCRL5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481082 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:125,9,0
1 157508801 rs1972239 C T 594.01 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.26;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FCRL5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481082 GT:AD:DP:GQ:PL 1/1:0,19:19:48.14:627,48,0
1 157508882 rs6427384 C T 1124.26 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.39;SNPEFF_AMINO_ACID_CHANGE=V381I;SNPEFF_CODON_CHANGE=Gtc/Atc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_157508876_157509154;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FCRL5;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368191 GT:AD:DP:GQ:PL 1/1:0,37:37:84.28:1157,84,0
1 157509025 rs2012199 C T 1172.34 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.64;SNPEFF_AMINO_ACID_CHANGE=G333D;SNPEFF_CODON_CHANGE=gGt/gAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_157508876_157509154;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FCRL5;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368191 GT:AD:DP:GQ:PL 1/1:0,32:32:90.29:1205,90,0
1 157512453 rs3897288 A G 281.71 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.21;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FCRL5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368188 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:315,24,0
1 157514091 rs12036228 C T 2060.80 PASS AB=0.492;AC=1;AF=0.50;AN=2;BaseQRankSum=1.932;DB;DP=128;Dels=0.0;FS=2.411;HRun=0;HaplotypeScore=2.4258;MQ=60.0;MQ0=0;MQRankSum=0.514;QD=16.1;ReadPosRankSum=0.832;SNPEFF_AMINO_ACID_CHANGE=V184I;SNPEFF_CODON_CHANGE=Gtc/Atc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_157514052_157514336;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FCRL5;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368191 GT:AD:DP:GQ:PL 0/1:63,65:128:99:2091,0,1959
1 157514097 rs6679793 A G 4666.31 PASS AC=2;AF=1.00;AN=2;DB;DP=127;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.4248;MQ=60.0;MQ0=0;QD=36.74;SNPEFF_AMINO_ACID_CHANGE=Y182H;SNPEFF_CODON_CHANGE=Tac/Cac;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_157514052_157514336;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FCRL5;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368191 GT:AD:DP:GQ:PL 1/1:0,126:127:99:4666,343,0
1 157517127 rs7531685 C T 136.66 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.133;DB;DP=24;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.03;MQ0=0;MQRankSum=-0.214;QD=5.69;ReadPosRankSum=1.01;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FCRL5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356953 GT:AD:DP:GQ:PL 0/1:16,8:24:99:167,0,555
1 157522016 rs7552348 G A 531.69 PASS AB=0.414;AC=1;AF=0.50;AN=2;BaseQRankSum=3.919;DB;DP=29;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=-0.244;QD=18.33;ReadPosRankSum=0.465;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FCRL5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356953 GT:AD:DP:GQ:PL 0/1:12,17:29:99:562,0,363
1 157545231 rs849827 G T 143.68 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.495;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.62;MQ0=0;MQRankSum=-0.922;QD=20.53;ReadPosRankSum=0.922;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FCRL4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479869 GT:AD:DP:GQ:PL 0/1:2,5:7:63.70:174,0,64
1 157548669 rs1885561 T A 75.57 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=18.89;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FCRL4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271532 GT:AD:DP:GQ:PL 0/1:1,3:4:28.61:106,0,29
1 157557957 rs11799853 T C 409.04 PASS AB=0.481;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.121;DB;DP=27;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.218;QD=15.15;ReadPosRankSum=0.073;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FCRL4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271532 GT:AD:DP:GQ:PL 0/1:13,14:27:99:439,0,420
1 157566019 rs10489674 G A 93.30 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=2.033;DB;DP=24;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.367;QD=3.89;ReadPosRankSum=1.233;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FCRL4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271532 GT:AD:DP:GQ:PL 0/1:18,6:24:99:123,0,597
1 157566211 rs12744410 A G 169.53 PASS AB=0.758;AC=1;AF=0.50;AN=2;BaseQRankSum=2.71;DB;DP=33;Dels=0.0;FS=2.517;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.071;QD=5.14;ReadPosRankSum=0.903;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FCRL4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271532 GT:AD:DP:GQ:PL 0/1:25,8:33:99:200,0,839
1 157567751 rs1361889 A G 235.74 PASS AB=0.56;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.246;DB;DP=25;Dels=0.0;FS=3.682;HRun=2;HaplotypeScore=1.9964;MQ=60.0;MQ0=0;MQRankSum=1.287;QD=9.43;ReadPosRankSum=-1.396;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_1_157567704_157567870;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FCRL4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271532 GT:AD:DP:GQ:PL 0/1:14,11:25:99:266,0,368
1 157652929 rs141977401 TA T 93.10 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=3.011;DB;DP=21;FS=4.559;HRun=9;HaplotypeScore=48.1637;IndelType=D;MQ=60.0;MQ0=0;MQRankSum=1.109;QD=4.43;ReadPosRankSum=-0.555;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=FCRL3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000292392 GT:AD:DP:GQ:PL 0/1:14,7:21:99:132,0,390
1 157666027 rs115903952 G T 1484.17 PASS AB=0.485;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.363;DB;DP=101;Dels=0.0;FS=2.615;HRun=0;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=-1.901;QD=14.69;ReadPosRankSum=-0.003;SNPEFF_AMINO_ACID_CHANGE=A312D;SNPEFF_CODON_CHANGE=gCc/gAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_157665830_157666117;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=FCRL3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000292392 GT:AD:DP:GQ:PL 0/1:49,52:101:99:1514,0,1356
1 157666256 rs72708359 T C 111.91 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=0.421;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.421;QD=12.43;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=FCRL3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478179 GT:AD:DP:GQ:PL 0/1:5,4:9:99:142,0,140
1 157668390 rs7522061 T C 612.67 PASS AB=0.59;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.108;DB;DP=61;Dels=0.0;FS=1.194;HRun=0;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=-1.559;QD=10.04;ReadPosRankSum=0.21;SNPEFF_AMINO_ACID_CHANGE=N28D;SNPEFF_CODON_CHANGE=Aat/Gat;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_157668174_157668419;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=FCRL3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000292392 GT:AD:DP:GQ:PL 0/1:36,25:61:99:643,0,1105
1 157670290 rs945635 C G 181.94 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=2.122;DB;DP=20;Dels=0.0;FS=2.199;HRun=3;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=0.733;QD=9.1;ReadPosRankSum=-1.813;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=FCRL3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000480682 GT:AD:DP:GQ:PL 0/1:12,8:20:99:212,0,304
1 157680114 rs17727339 T C 241.98 PASS AB=0.52;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.811;DB;DP=25;Dels=0.0;FS=4.154;HRun=0;HaplotypeScore=0.8321;MQ=59.07;MQ0=0;MQRankSum=0.058;QD=9.68;ReadPosRankSum=0.579;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP11-367J7.4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000435919 GT:AD:DP:GQ:PL 0/1:13,12:25:99:272,0,436
1 157680273 rs72708379 T C 281.49 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=0.778;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.16;MQ0=0;MQRankSum=1.626;QD=18.77;ReadPosRankSum=-0.071;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP11-367J7.4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000435919 GT:AD:DP:GQ:PL 0/1:4,10:14:99:311,0,113
1 157718283 rs6696643 A T 850.11 PASS AB=0.483;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.013;DB;DP=60;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=58.84;MQ0=0;MQRankSum=0.767;QD=14.17;ReadPosRankSum=1.298;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FCRL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000292389 GT:AD:DP:GQ:PL 0/1:29,31:60:99:880,0,887
1 157737504 rs2873413 G A 289.86 PASS AB=0.56;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.641;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.8455;MQ=60.0;MQ0=0;MQRankSum=-1.122;QD=11.59;ReadPosRankSum=-0.684;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FCRL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462774 GT:AD:DP:GQ:PL 0/1:14,11:25:99:320,0,475
1 157740186 rs10540465 GTC G 1065.48 PASS AB=0.632;AC=1;AF=0.50;AN=2;BaseQRankSum=5.755;DB;DP=48;FS=1.134;HRun=0;HaplotypeScore=271.9558;IndelType=D;MQ=56.04;MQ0=0;MQRankSum=0.379;QD=22.2;ReadPosRankSum=0.596;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FCRL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000292389 GT:AD:DP:GQ:PL 0/1:20,27:48:99:1105,0,983
1 157744142 rs6700883 A T 41.96 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.026;QD=10.49;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FCRL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000292389 GT:AD:DP:GQ:PL 0/1:2,2:4:67.92:72,0,68
1 157768000 rs3811024 G C 179.74 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.491;DB;DP=22;Dels=0.0;FS=1.875;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.921;QD=8.17;ReadPosRankSum=-0.239;SNPEFF_AMINO_ACID_CHANGE=T316;SNPEFF_CODON_CHANGE=acC/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_157767951_157768033;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FCRL1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000358292 GT:AD:DP:GQ:PL 0/1:14,8:22:99:210,0,446
1 157771880 rs4971154 C T 684.49 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=2.47;DB;DP=40;Dels=0.0;FS=4.879;HRun=1;HaplotypeScore=0.9159;MQ=60.0;MQ0=0;MQRankSum=0.043;QD=17.11;ReadPosRankSum=-0.471;SNPEFF_AMINO_ACID_CHANGE=P237;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_157771705_157771983;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FCRL1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000358292 GT:AD:DP:GQ:PL 0/1:16,24:40:99:714,0,473
1 157774046 rs66550975 C CA 179.63 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=8;FS=0.0;HRun=1;HaplotypeScore=44.8377;IndelType=I;MQ=50.65;MQ0=0;MQRankSum=-1.067;QD=22.45;ReadPosRankSum=-0.572;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FCRL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000480310 GT:AD:DP:GQ:PL 0/1:2,6:8:53.45:219,0,53
1 157802748 rs2777815 C G 73.51 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=18.38;ReadPosRankSum=0.727;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD5L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484609 GT:AD:DP:GQ:PL 0/1:1,3:4:29.72:104,0,30
1 157802877 rs2765500 T C 423.06 PASS AB=0.464;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.046;QD=15.11;ReadPosRankSum=-0.092;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD5L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484609 GT:AD:DP:GQ:PL 0/1:13,15:28:99:453,0,448
1 157802979 rs2261295 C T 1377.51 PASS AB=0.475;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.456;DB;DP=99;Dels=0.0;FS=1.636;HRun=1;HaplotypeScore=3.0386;MQ=59.11;MQ0=0;MQRankSum=0.473;QD=13.91;ReadPosRankSum=-1.349;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD5L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484609 GT:AD:DP:GQ:PL 0/1:47,52:99:99:1408,0,1323
1 157806006 rs2765503 G A 289.58 PASS AB=0.437;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.741;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.905;QD=18.1;ReadPosRankSum=1.482;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD5L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368174 GT:AD:DP:GQ:PL 0/1:7,9:16:99:320,0,235
1 157811392 rs2260040 G A 401.09 PASS AB=0.448;AC=1;AF=0.50;AN=2;BaseQRankSum=2.302;DB;DP=29;Dels=0.0;FS=1.762;HRun=0;HaplotypeScore=0.0;MQ=59.2;MQ0=0;MQRankSum=-0.592;QD=13.83;ReadPosRankSum=-0.855;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD5L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368174 GT:AD:DP:GQ:PL 0/1:13,16:29:99:431,0,384
1 158047601 rs11264901 A G 58.21 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=14.55;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIRREL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359209 GT:AD:DP:GQ:PL 0/1:1,3:4:30.20:88,0,30
1 158054379 rs927662 A G 51.64 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.82;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIRREL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359209 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:83,6,0
1 158056651 rs7364493 A G 96.53 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.72;QD=16.09;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIRREL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359209 GT:AD:DP:GQ:PL 0/1:2,4:6:63.26:127,0,63
1 158057691 rs3820676 A C 531.07 PASS AB=0.37;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.038;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=-0.276;QD=19.67;ReadPosRankSum=0.979;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIRREL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359209 GT:AD:DP:GQ:PL 0/1:10,17:27:99:561,0,301
1 158058109 rs6427419 C A 1044.93 PASS AB=0.558;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.232;DB;DP=95;Dels=0.0;FS=0.814;HRun=0;HaplotypeScore=4.3493;MQ=56.56;MQ0=0;MQRankSum=0.819;QD=11.0;ReadPosRankSum=-1.137;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIRREL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359209 GT:AD:DP:GQ:PL 0/1:53,42:95:99:1075,0,1674
1 158066834 rs6427420 A G 472.66 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.471;DB;DP=36;Dels=0.0;FS=7.791;HRun=0;HaplotypeScore=1.367;MQ=59.36;MQ0=0;MQRankSum=-0.142;QD=13.13;ReadPosRankSum=1.155;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIRREL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359209 GT:AD:DP:GQ:PL 0/1:18,18:36:99:503,0,551
1 158067047 rs874844 A C 102.68 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.72;QD=17.11;ReadPosRankSum=0.72;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIRREL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359209 GT:AD:DP:GQ:PL 0/1:2,4:6:60.97:133,0,61
1 158153996 rs426336 T C 1674.64 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.4972;MQ=60.0;MQ0=0;QD=34.89;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD1D;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368171 GT:AD:DP:GQ:PL 1/1:0,48:48:99:1708,129,0
1 158368392 rs61818748 C T 247.45 PASS AB=0.591;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.401;DB;DP=22;Dels=0.0;FS=4.154;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.2;QD=11.25;ReadPosRankSum=0.2;SNPEFF_AMINO_ACID_CHANGE=V289I;SNPEFF_CODON_CHANGE=Gtc/Atc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_158368312_158369256;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR10T2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000334438 GT:AD:DP:GQ:PL 0/1:13,9:22:99:277,0,410
1 158424637 rs1844787 A C 5205.85 PASS AC=2;AF=1.00;AN=2;DB;DP=164;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.9453;MQ=60.0;MQ0=0;QD=31.74;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP11-144L1.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397776 GT:AD:DP:GQ:PL 1/1:0,164:164:99:5206,388,0
1 158450314 rs6679056 A G 1079.13 PASS AB=0.578;AC=1;AF=0.50;AN=2;BaseQRankSum=4.543;DB;DP=103;Dels=0.0;FS=1.651;HRun=1;HaplotypeScore=3.5613;MQ=59.55;MQ0=0;MQRankSum=0.124;QD=10.48;ReadPosRankSum=-0.501;SNPEFF_AMINO_ACID_CHANGE=E216G;SNPEFF_CODON_CHANGE=gAa/gGa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_158449668_158450675;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR10R2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368152 GT:AD:DP:GQ:PL 0/1:59,43:103:99:1109,0,1764
1 158450382 rs1418843 C T 838.35 PASS AB=0.549;AC=1;AF=0.50;AN=2;BaseQRankSum=2.015;DB;DP=71;Dels=0.0;FS=6.814;HRun=1;HaplotypeScore=1.399;MQ=59.74;MQ0=0;MQRankSum=-0.199;QD=11.81;ReadPosRankSum=-1.45;SNPEFF_AMINO_ACID_CHANGE=L239F;SNPEFF_CODON_CHANGE=Ctc/Ttc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_158449668_158450675;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR10R2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368152 GT:AD:DP:GQ:PL 0/1:39,32:71:99:868,0,1141
1 158507157 rs2051665 A T 720.91 PASS AB=0.588;AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DB;DP=68;Dels=0.0;FS=2.089;HRun=1;HaplotypeScore=0.0;MQ=59.32;MQ0=0;MQRankSum=0.451;QD=10.6;ReadPosRankSum=0.261;SNPEFF_EFFECT=INTERGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 0/1:40,28:68:99:751,0,1189
1 158507160 rs2051666 T G 650.42 PASS AB=0.582;AC=1;AF=0.50;AN=2;BaseQRankSum=0.785;DB;DP=67;Dels=0.0;FS=2.06;HRun=1;HaplotypeScore=0.0;MQ=59.31;MQ0=0;MQRankSum=1.226;QD=9.71;ReadPosRankSum=-0.214;SNPEFF_EFFECT=INTERGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 0/1:39,28:67:99:680,0,1189
1 158507184 rs2051068 A G 699.51 PASS AB=0.582;AC=1;AF=0.50;AN=2;BaseQRankSum=2.973;DB;DP=67;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9734;MQ=59.66;MQ0=0;MQRankSum=0.595;QD=10.44;ReadPosRankSum=0.403;SNPEFF_EFFECT=INTERGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 0/1:39,28:67:99:730,0,1162
1 158507222 rs80342507 GA G 347.28 PASS AB=0.735;AC=1;AF=0.50;AN=2;BaseQRankSum=4.46;DB;DP=50;FS=2.893;HRun=8;HaplotypeScore=253.5501;IndelType=D;MQ=60.0;MQ0=0;MQRankSum=0.197;QD=6.95;ReadPosRankSum=0.382;SNPEFF_EFFECT=INTERGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 0/1:32,18:50:99:386,0,839
1 158517142 rs41273491 C T 907.77 PASS AB=0.541;AC=1;AF=0.50;AN=2;BaseQRankSum=1.599;DB;DP=61;Dels=0.0;FS=2.204;HRun=0;HaplotypeScore=3.1259;MQ=59.47;MQ0=0;MQRankSum=1.353;QD=14.88;ReadPosRankSum=0.34;SNPEFF_AMINO_ACID_CHANGE=V252I;SNPEFF_CODON_CHANGE=Gtc/Atc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_158516918_158517895;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR6Y1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000302617 GT:AD:DP:GQ:PL 0/1:33,28:61:99:938,0,883
1 158517353 rs16840314 G A 227.49 PASS AB=0.593;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.752;DB;DP=28;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.8485;MQ=58.84;MQ0=0;MQRankSum=0.814;QD=8.12;ReadPosRankSum=-1.406;SNPEFF_AMINO_ACID_CHANGE=H181;SNPEFF_CODON_CHANGE=caC/caT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_158516918_158517895;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR6Y1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000302617 GT:AD:DP:GQ:PL 0/1:16,11:28:99:257,0,515
1 158532295 rs7534319 G C 490.48 PASS AB=0.515;AC=1;AF=0.50;AN=2;BaseQRankSum=1.057;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.68;QD=14.86;ReadPosRankSum=1.888;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR6P1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334632 GT:AD:DP:GQ:PL 0/1:17,16:33:99:520,0,584
1 158532405 rs7526514 T G 1909.13 PASS AB=0.566;AC=1;AF=0.50;AN=2;BaseQRankSum=0.262;DB;DP=160;Dels=0.0;FS=5.66;HRun=0;HaplotypeScore=3.2043;MQ=59.71;MQ0=0;MQRankSum=1.02;QD=11.93;ReadPosRankSum=-0.801;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR6P1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334632 GT:AD:DP:GQ:PL 0/1:90,69:160:99:1939,0,2952
1 158533140 rs12080815 A G 268.46 PASS AB=0.56;AC=1;AF=0.50;AN=2;BaseQRankSum=0.137;DB;DP=25;Dels=0.0;FS=9.129;HRun=1;HaplotypeScore=0.0;MQ=58.31;MQ0=0;MQRankSum=0.465;QD=10.74;ReadPosRankSum=0.52;SNPEFF_AMINO_ACID_CHANGE=F85;SNPEFF_CODON_CHANGE=ttT/ttC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_158532441_158533394;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR6P1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000334632 GT:AD:DP:GQ:PL 0/1:14,11:25:99:298,0,483
1 158533224 rs12081915 A G 263.81 PASS AB=0.35;AC=1;AF=0.50;AN=2;BaseQRankSum=0.127;DB;DP=20;Dels=0.0;FS=4.786;HRun=3;HaplotypeScore=0.9989;MQ=60.0;MQ0=0;MQRankSum=-0.127;QD=13.19;ReadPosRankSum=2.747;SNPEFF_AMINO_ACID_CHANGE=R57;SNPEFF_CODON_CHANGE=cgT/cgC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_158532441_158533394;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR6P1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000334632 GT:AD:DP:GQ:PL 0/1:7,13:20:99:294,0,217
1 158549264 rs863360 G A 375.16 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.09;DB;DP=39;Dels=0.0;FS=1.293;HRun=1;HaplotypeScore=0.0;MQ=58.81;MQ0=0;MQRankSum=-0.06;QD=9.62;ReadPosRankSum=-0.747;SNPEFF_AMINO_ACID_CHANGE=I142;SNPEFF_CODON_CHANGE=atC/atT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_158548709_158549689;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR10X1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000368150 GT:AD:DP:GQ:PL 0/1:24,15:39:99:405,0,763
1 158549420 rs863361 C T 644.31 PASS AB=0.579;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.17;DB;DP=57;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=59.67;MQ0=0;MQRankSum=-1.479;QD=11.3;ReadPosRankSum=-2.028;SNPEFF_AMINO_ACID_CHANGE=T90;SNPEFF_CODON_CHANGE=acG/acA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_158548709_158549689;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR10X1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000368150 GT:AD:DP:GQ:PL 0/1:33,24:57:99:674,0,1022
1 158549492 rs863362 C T 1074.38 PASS AB=0.544;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.31;DB;DP=79;Dels=0.0;FS=2.0;HRun=0;HaplotypeScore=1.6988;MQ=59.18;MQ0=0;MQRankSum=-1.777;QD=13.6;ReadPosRankSum=1.107;SNPEFF_AMINO_ACID_CHANGE=W66*;SNPEFF_CODON_CHANGE=tgG/tgA;SNPEFF_EFFECT=STOP_GAINED;SNPEFF_EXON_ID=exon_1_158548709_158549689;SNPEFF_FUNCTIONAL_CLASS=NONSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR10X1;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000368150 GT:AD:DP:GQ:PL 0/1:43,36:79:99:1104,0,1290
1 158549511 rs863363 A G 1147.21 PASS AB=0.547;AC=1;AF=0.50;AN=2;BaseQRankSum=0.419;DB;DP=86;Dels=0.0;FS=4.526;HRun=1;HaplotypeScore=1.5226;MQ=59.46;MQ0=0;MQRankSum=0.789;QD=13.34;ReadPosRankSum=0.754;SNPEFF_AMINO_ACID_CHANGE=I60T;SNPEFF_CODON_CHANGE=aTc/aCc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_158548709_158549689;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR10X1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368150 GT:AD:DP:GQ:PL 0/1:47,39:86:99:1177,0,1457
1 158576100 rs860772 G C 42.27 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=14.09;ReadPosRankSum=-0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPTA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368147 GT:AD:DP:GQ:PL 0/1:1,2:3:33.62:72,0,34
1 158577109 rs857685 A C 2471.89 PASS AB=0.503;AC=1;AF=0.50;AN=2;BaseQRankSum=0.115;DB;DP=175;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=4.9941;MQ=59.87;MQ0=0;MQRankSum=-0.231;QD=14.13;ReadPosRankSum=0.139;SNPEFF_AMINO_ACID_CHANGE=N294T;SNPEFF_CODON_CHANGE=aAt/aCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_158576229_158577170;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR10Z1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000361284 GT:AD:DP:GQ:PL 0/1:88,87:175:99:2502,0,2673
1 158580921 rs66981873 GCA G 153.99 PASS AC=2;AF=1.00;AN=2;DB;DP=10;FS=0.0;HRun=0;HaplotypeScore=59.5675;IndelType=D;MQ=53.87;MQ0=0;QD=15.4;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR10Z1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361284 GT:AD:DP:GQ:PL 1/1:2,5:10:20.72:196,21,0
1 158582426 rs2518489 G A 39.72 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=13.24;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPTA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481212 GT:AD:DP:GQ:PL 0/1:1,2:3:28.77:70,0,29
1 158582543 rs2251963 G A 477.73 PASS AB=0.419;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.462;DB;DP=31;Dels=0.0;FS=4.439;HRun=0;HaplotypeScore=1.983;MQ=60.0;MQ0=0;MQRankSum=-1.221;QD=15.41;ReadPosRankSum=0.26;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPTA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000492934 GT:AD:DP:GQ:PL 0/1:13,18:31:99:508,0,406
1 158582552 rs2251964 G A 615.43 PASS AB=0.394;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.124;DB;DP=33;Dels=0.0;FS=7.389;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.608;QD=18.65;ReadPosRankSum=-0.718;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPTA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000492934 GT:AD:DP:GQ:PL 0/1:13,20:33:99:645,0,381
1 158582646 rs2251969 T C 743.90 PASS AB=0.446;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.016;DB;DP=56;Dels=0.0;FS=1.022;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.808;QD=13.28;ReadPosRankSum=-0.379;SNPEFF_AMINO_ACID_CHANGE=A2362;SNPEFF_CODON_CHANGE=gcA/gcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_158582607_158582751;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPTA1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000368147 GT:AD:DP:GQ:PL 0/1:25,31:56:99:774,0,675
1 158584091 rs952094 A G 704.50 PASS AB=0.407;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.584;DB;DP=55;Dels=0.0;FS=6.465;HRun=1;HaplotypeScore=4.3864;MQ=57.0;MQ0=0;MQRankSum=0.644;QD=12.81;ReadPosRankSum=0.089;SNPEFF_AMINO_ACID_CHANGE=I2262T;SNPEFF_CODON_CHANGE=aTc/aCc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_158584043_158584096;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPTA1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368147 GT:AD:DP:GQ:PL 0/1:22,32:55:99:734,0,620
1 158584103 rs5778083 G GAA 629.66 PASS AB=0.754;AC=1;AF=0.50;AN=2;BaseQRankSum=4.216;DB;DP=49;FS=1.471;HRun=12;HaplotypeScore=292.2413;IndelType=I;MQ=56.62;MQ0=0;MQRankSum=-0.46;QD=12.85;ReadPosRankSum=-0.171;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPTA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484520 GT:AD:DP:GQ:PL 0/1:32,12:49:99:669,0,341
1 158585230 rs2518491 C T 979.39 PASS AB=0.407;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.19;DB;DP=54;Dels=0.0;FS=5.89;HRun=0;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=0.045;QD=18.14;ReadPosRankSum=-0.334;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPTA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484520 GT:AD:DP:GQ:PL 0/1:22,32:54:99:1009,0,755
1 158587390 rs857716 C T 436.18 PASS AB=0.469;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.775;DB;DP=32;Dels=0.0;FS=1.428;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.208;QD=13.63;ReadPosRankSum=-0.642;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPTA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484520 GT:AD:DP:GQ:PL 0/1:15,17:32:99:466,0,441
1 158587784 rs857717 T G 1518.97 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;QD=36.17;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPTA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461624 GT:AD:DP:GQ:PL 1/1:0,42:42:99:1552,114,0
1 158597309 rs12044097 A G 120.36 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.016;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.101;QD=9.26;ReadPosRankSum=-1.093;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPTA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368147 GT:AD:DP:GQ:PL 0/1:6,7:13:99:150,0,215
1 158607788 rs2518492 T G 2770.40 PASS AC=2;AF=1.00;AN=2;DB;DP=78;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.5767;MQ=60.0;MQ0=0;QD=35.52;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPTA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465741 GT:AD:DP:GQ:PL 1/1:0,78:78:99:2803,211,0
1 158607935 rs857725 T G 630.67 PASS AB=0.614;AC=1;AF=0.50;AN=2;BaseQRankSum=1.72;DB;DP=57;Dels=0.0;FS=1.287;HRun=1;HaplotypeScore=0.9665;MQ=60.0;MQ0=0;MQRankSum=0.075;QD=11.06;ReadPosRankSum=0.428;SNPEFF_AMINO_ACID_CHANGE=K1693Q;SNPEFF_CODON_CHANGE=Aag/Cag;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_158607823_158608031;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPTA1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368147 GT:AD:DP:GQ:PL 0/1:35,22:57:99:661,0,1144
1 158612236 rs863931 A G 1121.76 PASS AB=0.549;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.369;DB;DP=91;Dels=0.0;FS=0.803;HRun=0;HaplotypeScore=1.9326;MQ=58.71;MQ0=0;MQRankSum=0.118;QD=12.33;ReadPosRankSum=-1.246;SNPEFF_AMINO_ACID_CHANGE=C1568R;SNPEFF_CODON_CHANGE=Tgt/Cgt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_158612201_158612332;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPTA1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368147 GT:AD:DP:GQ:PL 0/1:50,41:91:99:1152,0,1647
1 158612548 rs857721 T A 610.42 PASS AB=0.513;AC=1;AF=0.50;AN=2;BaseQRankSum=1.278;DB;DP=39;Dels=0.0;FS=3.899;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.155;QD=15.65;ReadPosRankSum=0.632;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPTA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368147 GT:AD:DP:GQ:PL 0/1:20,19:39:99:640,0,693
1 158618223 rs857677 C T 456.37 PASS AB=0.531;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.378;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.415;QD=14.26;ReadPosRankSum=1.624;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPTA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368147 GT:AD:DP:GQ:PL 0/1:17,15:32:99:486,0,565
1 158619728 rs2482965 A C 581.42 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.3;SNPEFF_AMINO_ACID_CHANGE=S1163A;SNPEFF_CODON_CHANGE=Tcc/Gcc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_158619646_158619737;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPTA1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368147 GT:AD:DP:GQ:PL 1/1:0,18:18:45.15:614,45,0
1 158624528 rs35948326 G T 509.12 PASS AB=0.622;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.597;DB;DP=45;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9998;MQ=59.59;MQ0=0;MQRankSum=-1.627;QD=11.31;ReadPosRankSum=-0.831;SNPEFF_AMINO_ACID_CHANGE=A970D;SNPEFF_CODON_CHANGE=gCt/gAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_158624401_158624538;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPTA1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368147 GT:AD:DP:GQ:PL 0/1:28,17:45:99:539,0,886
1 158639029 rs111877794 A G 97.64 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.637;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9894;MQ=60.0;MQ0=0;MQRankSum=-0.6;QD=8.14;ReadPosRankSum=0.6;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPTA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368147 GT:AD:DP:GQ:PL 0/1:8,4:12:99:128,0,301
1 158639601 rs2298801 A G 2070.45 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=59.6;MQ0=0;QD=36.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPTA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368147 GT:AD:DP:GQ:PL 1/1:0,57:57:99:2103,156,0
1 158644105 rs703116 T A 4510.83 PASS AC=2;AF=1.00;AN=2;DB;DP=132;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=59.65;MQ0=0;QD=34.17;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPTA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467387 GT:AD:DP:GQ:PL 1/1:1,131:132:99:4511,334,0
1 158646223 rs12135144 T C 342.12 PASS AB=0.353;AC=1;AF=0.50;AN=2;BaseQRankSum=0.251;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.854;QD=20.12;ReadPosRankSum=-0.352;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPTA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467387 GT:AD:DP:GQ:PL 0/1:6,11:17:99:372,0,181
1 158646300 rs90078 C T 94.19 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.4;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPTA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467387 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:126,9,0
1 158647495 rs325996 A T 843.61 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.15;SNPEFF_AMINO_ACID_CHANGE=A314;SNPEFF_CODON_CHANGE=gcT/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_158647480_158647624;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPTA1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000368147 GT:AD:DP:GQ:PL 1/1:0,23:24:63.21:877,63,0
1 158647631 rs325995 T A 1390.29 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPTA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368147 GT:AD:DP:GQ:PL 1/1:0,47:47:99:1423,105,0
1 158648008 rs325994 C A 173.89 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.98;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPTA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368147 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:207,15,0
1 158648490 rs325993 T C 40.99 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=13.66;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPTA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368147 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:72,6,0
1 158654786 rs385096 C T 462.86 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.6;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPTA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368147 GT:AD:DP:GQ:PL 1/1:0,13:13:36.12:496,36,0
1 158655036 rs435080 G A 1991.80 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9983;MQ=58.22;MQ0=0;QD=31.62;SNPEFF_AMINO_ACID_CHANGE=V42;SNPEFF_CODON_CHANGE=gtC/gtT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_158654898_158655137;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPTA1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000368147 GT:AD:DP:GQ:PL 1/1:0,63:63:99:2025,153,0
1 158655162 rs2564859 C A 1595.24 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.45;MQ0=0;QD=35.45;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPTA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368147 GT:AD:DP:GQ:PL 1/1:0,45:45:99:1628,120,0
1 158655315 rs366221 T A 77.30 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=51.77;MQ0=0;QD=25.77;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPTA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368147 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:109,9,0
1 158656281 rs2564858 T C 1524.09 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.57;MQ0=0;QD=33.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPTA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368147 GT:AD:DP:GQ:PL 1/1:0,45:45:99:1557,117,0
1 158656347 rs111674514 C CAGAG 1533.75 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.432;DB;DP=35;FS=0.0;HRun=0;HaplotypeScore=201.0455;IndelType=I;MQ=56.21;MQ0=0;MQRankSum=-0.226;QD=43.82;ReadPosRankSum=0.829;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPTA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467387 GT:AD:DP:GQ:PL 1/1:12,21:35:41.29:1576,41,0
1 158735595 rs857824 C T 3350.24 PASS AC=2;AF=1.00;AN=2;DB;DP=95;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;QD=35.27;SNPEFF_AMINO_ACID_CHANGE=R293H;SNPEFF_CODON_CHANGE=cGc/cAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_158735466_158736492;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR6N1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000335094 GT:AD:DP:GQ:PL 1/1:0,95:95:99:3350,250,0
1 158735691 rs857825 T C 3630.48 PASS AC=2;AF=1.00;AN=2;DB;DP=109;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.31;SNPEFF_AMINO_ACID_CHANGE=Q261R;SNPEFF_CODON_CHANGE=cAg/cGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_158735466_158736492;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR6N1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000335094 GT:AD:DP:GQ:PL 1/1:0,109:109:99:3630,280,0
1 158735740 rs857826 A G 3295.30 PASS AC=2;AF=1.00;AN=2;DB;DP=101;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;QD=32.63;SNPEFF_AMINO_ACID_CHANGE=F245L;SNPEFF_CODON_CHANGE=Ttc/Ctc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_158735466_158736492;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR6N1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000335094 GT:AD:DP:GQ:PL 1/1:0,101:101:99:3295,250,0
1 158735892 rs857827 A G 3415.75 PASS AC=2;AF=1.00;AN=2;DB;DP=96;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.58;SNPEFF_AMINO_ACID_CHANGE=I194T;SNPEFF_CODON_CHANGE=aTa/aCa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_158735466_158736492;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR6N1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000335094 GT:AD:DP:GQ:PL 1/1:0,96:96:99:3416,247,0
1 158736215 rs6666753 G A 1926.21 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.29;MQ0=0;QD=32.65;SNPEFF_AMINO_ACID_CHANGE=L86;SNPEFF_CODON_CHANGE=ctC/ctT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_158735466_158736492;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR6N1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000335094 GT:AD:DP:GQ:PL 1/1:0,59:59:99:1959,144,0
1 158736445 rs1864346 C T 1110.40 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.7;SNPEFF_AMINO_ACID_CHANGE=A10T;SNPEFF_CODON_CHANGE=Gca/Aca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_158735466_158736492;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR6N1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000335094 GT:AD:DP:GQ:PL 1/1:0,32:32:84.26:1143,84,0
1 158736517 rs1864347 A T 267.21 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.66;MQ0=0;QD=26.72;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR6N1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000335094 GT:AD:DP:GQ:PL 1/1:0,10:10:24.07:300,24,0
1 158747506 rs11805711 C G 155.50 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=0.198;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.198;QD=22.21;ReadPosRankSum=0.922;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR6N2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000339258 GT:AD:DP:GQ:PL 0/1:2,5:7:51.56:185,0,52
1 158778206 rs66499917 C T 512.38 PASS AB=0.424;AC=1;AF=0.50;AN=2;BaseQRankSum=1.147;DB;DP=33;Dels=0.0;FS=5.403;HRun=0;HaplotypeScore=8.96;MQ=58.59;MQ0=0;MQRankSum=-1.366;QD=15.53;ReadPosRankSum=-0.091;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=OR10AA1P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000325632 GT:AD:DP:GQ:PL 0/1:14,19:33:99:542,0,465
1 158778764 rs7550055 T G 539.59 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.583;DB;DP=55;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.866;QD=9.81;ReadPosRankSum=-0.166;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=OR10AA1P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000325632 GT:AD:DP:GQ:PL 0/1:35,20:55:99:570,0,1086
1 158818905 . T G 31.80 QDFilter2 AB=0.316;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.392;DP=19;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9867;MQ=56.5;MQ0=0;MQRankSum=-0.231;QD=1.67;ReadPosRankSum=2.7;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MNDA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368141 GT:AD:DP:GQ:PL 0/1:6,13:19:61.79:62,0,119
1 158909164 rs2325704 C A 1592.02 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.38;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PYHIN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000458222 GT:AD:DP:GQ:PL 1/1:0,45:45:99:1625,126,0
1 158913525 rs856082 A G 422.43 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.2;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PYHIN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368135 GT:AD:DP:GQ:PL 1/1:0,12:12:33.11:455,33,0
1 158913532 rs4656498 C T 454.89 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.49;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PYHIN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368135 GT:AD:DP:GQ:PL 1/1:0,14:14:36.11:488,36,0
1 158915069 rs856083 C G 93.66 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.22;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PYHIN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368138 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:126,9,0
1 158943740 rs12071289 C T 41.96 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.026;QD=10.49;ReadPosRankSum=-1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PYHIN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368138 GT:AD:DP:GQ:PL 0/1:2,2:4:67.28:72,0,67
1 158986225 rs856042 T C 297.87 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.23;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IFI16;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426592 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:331,24,0
1 158986477 rs866484 G C 1847.96 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.678;DB;DP=64;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.0234;MQ=60.0;MQ0=0;MQRankSum=-0.595;QD=28.87;ReadPosRankSum=1.083;SNPEFF_AMINO_ACID_CHANGE=S179T;SNPEFF_CODON_CHANGE=aGt/aCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_158986323_158986490;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IFI16;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000295809 GT:AD:DP:GQ:PL 1/1:1,63:64:99:1881,138,0
1 158987941 rs856046 A G 490.08 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.55;MQ0=0;QD=37.7;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IFI16;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426592 GT:AD:DP:GQ:PL 1/1:0,13:13:39.12:523,39,0
1 158990412 rs856049 A G 446.04 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.05;MQ0=0;QD=37.17;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IFI16;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426592 GT:AD:DP:GQ:PL 1/1:0,12:12:36.12:479,36,0
1 159002155 rs856058 T A 41.87 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=8;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.93;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IFI16;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295809 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:73,6,0
1 159002222 rs861318 A G 401.90 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.49;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IFI16;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295809 GT:AD:DP:GQ:PL 1/1:0,12:12:33.11:435,33,0
1 159002301 rs2518553 T C 1101.77 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.94;MQ0=0;QD=32.41;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IFI16;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295809 GT:AD:DP:GQ:PL 1/1:0,34:34:87.24:1135,87,0
1 159002377 rs1057027 C A 2329.30 PASS AC=2;AF=1.00;AN=2;DB;DP=69;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.5;MQ0=0;QD=33.76;SNPEFF_AMINO_ACID_CHANGE=R357S;SNPEFF_CODON_CHANGE=Cgt/Agt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_159002314_159002481;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IFI16;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000430894 GT:AD:DP:GQ:PL 1/1:0,69:69:99:2362,181,0
1 159002389 rs1057028 T A 2633.53 PASS AC=2;AF=1.00;AN=2;DB;DP=75;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9159;MQ=54.88;MQ0=0;QD=35.11;SNPEFF_AMINO_ACID_CHANGE=Y361N;SNPEFF_CODON_CHANGE=Tat/Aat;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_159002314_159002481;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IFI16;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000430894 GT:AD:DP:GQ:PL 1/1:0,75:75:99:2667,208,0
1 159002557 rs1633256 A G 1061.08 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=41.0;MQ0=0;QD=23.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IFI16;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295809 GT:AD:DP:GQ:PL 1/1:0,46:46:90.27:1094,90,0
1 159002577 rs66518077 TGGATTG T 1953.80 PASS AC=2;AF=1.00;AN=2;DB;DP=34;FS=0.0;HRun=0;HaplotypeScore=349.531;IndelType=D;MQ=29.0;MQ0=0;QD=57.46;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IFI16;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295809 GT:AD:DP:GQ:PL 1/1:7,27:34:81.28:1996,81,0
1 159032255 rs2793845 G T 51 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.5;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AIM2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368129 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
1 159163119 rs862990 C T 739.59 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.89;MQ0=0;QD=35.22;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CADM3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368124 GT:AD:DP:GQ:PL 1/1:0,21:21:57.19:773,57,0
1 159169641 rs862999 T C 1324 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.49;MQ0=0;QD=29.42;SNPEFF_AMINO_ACID_CHANGE=L351;SNPEFF_CODON_CHANGE=ctT/ctC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_159169541_159169666;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CADM3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000368125 GT:AD:DP:GQ:PL 1/1:1,44:45:99:1357,108,0
1 159174605 rs72547266 G A 96.38 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=1.881;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.876;QD=8.76;ReadPosRankSum=-0.361;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_1_159173803_159174770;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DARC;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000359381 GT:AD:DP:GQ:PL 0/1:5,6:11:99:126,0,123
1 159174824 rs863001 G C 1129.62 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;QD=28.96;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CADM3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368124 GT:AD:DP:GQ:PL 1/1:0,39:39:90.25:1163,90,0
1 159174920 rs863002 C T 110.54 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.72;QD=18.42;ReadPosRankSum=0.72;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CADM3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368124 GT:AD:DP:GQ:PL 0/1:2,4:6:57.20:141,0,57
1 159175354 rs12075 G A 660.71 PASS AB=0.465;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.541;DB;DP=43;Dels=0.0;FS=2.817;HRun=0;HaplotypeScore=2.5655;MQ=59.46;MQ0=0;MQRankSum=0.038;QD=15.37;ReadPosRankSum=-0.869;SNPEFF_AMINO_ACID_CHANGE=G42D;SNPEFF_CODON_CHANGE=gGt/gAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_159175251_159176288;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DARC;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000359381 GT:AD:DP:GQ:PL 0/1:20,23:43:99:691,0,585
1 159402584 rs11452668 G GT 1588.56 PASS AC=2;AF=1.00;AN=2;DB;DP=43;FS=0.0;HRun=2;HaplotypeScore=92.4255;IndelType=I;MQ=60.22;MQ0=0;QD=36.94;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP11-180D21.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000504970 GT:AD:DP:GQ:PL 1/1:4,38:43:99:1631,114,0
1 159402695 rs4491058 A C 363.09 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.01;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP11-180D21.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000504970 GT:AD:DP:GQ:PL 1/1:0,11:11:30.10:396,30,0
1 159409479 rs12145616 T G 283.01 PASS AB=0.542;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.093;DB;DP=24;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.954;QD=11.79;ReadPosRankSum=0.031;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR10J1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000423932 GT:AD:DP:GQ:PL 0/1:13,11:24:99:313,0,436
1 159409533 rs10908721 G A 1778.84 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.94;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_1_159409512_159410600;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR10J1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000423932 GT:AD:DP:GQ:PL 1/1:0,54:54:99:1812,132,0
1 159409734 rs10908722 G T 2187.38 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9894;MQ=59.62;MQ0=0;QD=35.86;SNPEFF_AMINO_ACID_CHANGE=M62I;SNPEFF_CODON_CHANGE=atG/atT;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_159409512_159410600;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR10J1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000423932 GT:AD:DP:GQ:PL 1/1:0,60:61:99:2220,169,0
1 159409857 rs12048482 A G 658.20 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.56;DB;DP=44;Dels=0.0;FS=2.837;HRun=0;HaplotypeScore=0.9998;MQ=60.0;MQ0=0;MQRankSum=-1.031;QD=14.96;ReadPosRankSum=0.402;SNPEFF_AMINO_ACID_CHANGE=I103M;SNPEFF_CODON_CHANGE=atA/atG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_159409512_159410600;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR10J1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000423932 GT:AD:DP:GQ:PL 0/1:22,22:44:99:688,0,660
1 159409884 rs12118628 G A 896.24 PASS AB=0.484;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.763;DB;DP=64;Dels=0.0;FS=1.0;HRun=0;HaplotypeScore=0.0;MQ=59.64;MQ0=0;MQRankSum=0.056;QD=14.0;ReadPosRankSum=-1.312;SNPEFF_AMINO_ACID_CHANGE=M112I;SNPEFF_CODON_CHANGE=atG/atA;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_159409512_159410600;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR10J1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000423932 GT:AD:DP:GQ:PL 0/1:31,33:64:99:926,0,870
1 159505297 rs4656837 C T 1905.86 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9469;MQ=59.57;MQ0=0;QD=35.29;SNPEFF_AMINO_ACID_CHANGE=P167;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_159504793_159505842;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR10J5;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000334857 GT:AD:DP:GQ:PL 1/1:0,54:54:99:1939,141,0
1 159558258 rs2808661 A G 662.41 PASS AB=0.385;AC=1;AF=0.50;AN=2;BaseQRankSum=1.025;DB;DP=39;Dels=0.0;FS=1.309;HRun=1;HaplotypeScore=0.0;MQ=59.41;MQ0=0;MQRankSum=-0.823;QD=16.98;ReadPosRankSum=-2.324;SNPEFF_AMINO_ACID_CHANGE=V144;SNPEFF_CODON_CHANGE=gtA/gtG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_159557891_159558655;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=APCS;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000255040 GT:AD:DP:GQ:PL 0/1:15,24:39:99:692,0,488
1 159778699 rs12042065 G A 891.16 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.28;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=FCRL6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000541729 GT:AD:DP:GQ:PL 1/1:0,26:26:69.23:924,69,0
1 159785284 rs4411129 C G 1564.91 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=FCRL6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000321935 GT:AD:DP:GQ:PL 1/1:0,47:47:99:1598,120,0
1 159799599 rs78633745 C CA 599.72 PASS AB=0.591;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.359;DB;DP=26;FS=0.0;HRun=3;HaplotypeScore=64.3242;IndelType=I;MQ=60.42;MQ0=0;MQRankSum=-0.32;QD=23.07;ReadPosRankSum=0.437;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf204;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368102 GT:AD:DP:GQ:PL 0/1:8,18:26:99:639,0,213
1 159807969 rs2494491 A T 70.07 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=0.103;DB;DP=11;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.9665;MQ=57.87;MQ0=0;MQRankSum=0.336;QD=6.37;ReadPosRankSum=0.336;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLAMF8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289707 GT:AD:DP:GQ:PL 0/1:6,5:11:99:100,0,178
1 159824967 rs2501340 G C 45.22 PASS AB=0.769;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.437;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=-0.93;QD=3.48;ReadPosRankSum=0.085;SNPEFF_AMINO_ACID_CHANGE=Q21E;SNPEFF_CODON_CHANGE=Caa/Gaa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_159824966_159825137;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf204;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368102 GT:AD:DP:GQ:PL 0/1:10,3:13:75.22:75,0,292
1 159825916 rs11587021 C T 170.42 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.467;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=0.583;QD=14.2;ReadPosRankSum=1.378;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VSIG8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368100 GT:AD:DP:GQ:PL 0/1:6,6:12:99:200,0,175
1 159826048 rs2494500 C T 52.75 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VSIG8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368100 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:84,6,0
1 159828128 rs2494504 A G 485.13 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.34;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VSIG8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368100 GT:AD:DP:GQ:PL 1/1:0,15:15:42.11:518,42,0
1 159828746 rs2501337 G A 333.59 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.8;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VSIG8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368100 GT:AD:DP:GQ:PL 1/1:0,12:12:30.08:367,30,0
1 159832425 rs2494507 G A 519.19 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.08;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_1_159832263_159832447;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VSIG8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368100 GT:AD:DP:GQ:PL 1/1:0,14:14:42.14:552,42,0
1 159842088 rs2494518 T A 451.52 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.35;MQ0=0;QD=34.73;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CCDC19;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368099 GT:AD:DP:GQ:PL 1/1:0,13:13:36.12:485,36,0
1 159842103 rs11265289 C T 525.05 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.327;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.23;MQ0=0;MQRankSum=1.123;QD=30.89;ReadPosRankSum=-1.531;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CCDC19;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368099 GT:AD:DP:GQ:PL 1/1:1,16:17:12.03:558,12,0
1 159842566 rs4545332 T A 87.98 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.33;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CCDC19;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475911 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:120,9,0
1 159842691 rs4460634 C G 740.86 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.9867;MQ=58.84;MQ0=0;QD=37.04;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CCDC19;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475911 GT:AD:DP:GQ:PL 1/1:0,20:20:60.19:774,60,0
1 159843131 rs7527219 A G 38.66 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=19.33;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CCDC19;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475911 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:70,6,0
1 159854392 rs2501325 C A 2745.64 PASS AC=2;AF=1.00;AN=2;DB;DP=80;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=59.71;MQ0=0;QD=34.32;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CCDC19;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479940 GT:AD:DP:GQ:PL 1/1:0,80:80:99:2779,211,0
1 159857427 rs72700671 G A 51.22 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.61;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CCDC19;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368099 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
1 159860259 rs2501320 G A 1925.05 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.6988;MQ=58.88;MQ0=0;QD=33.19;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CCDC19;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368099 GT:AD:DP:GQ:PL 1/1:0,57:58:99:1958,144,0
1 159889686 rs2252815 G A 1073.61 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=58.63;MQ0=0;QD=31.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAGLN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000320307 GT:AD:DP:GQ:PL 1/1:0,34:34:90.25:1107,90,0
1 159897681 rs112301302 TA T 186.26 PASS AB=0.58;AC=1;AF=0.50;AN=2;BaseQRankSum=0.839;DB;DP=29;FS=2.35;HRun=15;HaplotypeScore=181.6227;IndelType=D;MQ=54.79;MQ0=0;MQRankSum=-0.28;QD=6.42;ReadPosRankSum=1.286;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IGSF9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000198587 GT:AD:DP:GQ:PL 0/1:8,19:29:24.71:225,0,25
1 159922369 rs2840583 C T 2031.98 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.58;MQ0=0;QD=36.95;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLAMF9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368092 GT:AD:DP:GQ:PL 1/1:0,55:55:99:2065,153,0
1 159922959 rs2249707 C T 93.62 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.21;MQ0=0;QD=18.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLAMF9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368092 GT:AD:DP:GQ:PL 1/1:0,5:5:11.99:126,12,0
1 159923111 rs2789417 T G 1127.02 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9983;MQ=58.71;MQ0=0;QD=31.31;SNPEFF_AMINO_ACID_CHANGE=I127L;SNPEFF_CODON_CHANGE=Ata/Cta;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_159923099_159923443;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLAMF9;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368092 GT:AD:DP:GQ:PL 1/1:0,36:36:87.25:1160,87,0
1 160000435 rs12409352 A T 966.73 PASS AB=0.446;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.701;DB;DP=65;Dels=0.0;FS=0.964;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.998;QD=14.87;ReadPosRankSum=1.16;SNPEFF_AMINO_ACID_CHANGE=F365L;SNPEFF_CODON_CHANGE=ttT/ttA;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_159997462_160001783;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIGM;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368090 GT:AD:DP:GQ:PL 0/1:29,36:65:99:997,0,879
1 160012406 rs12729701 A G 70.71 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=0.55;DB;DP=7;Dels=0.0;FS=3.68;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.55;QD=10.1;ReadPosRankSum=-0.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNJ10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368089 GT:AD:DP:GQ:PL 0/1:4,3:7:99:101,0,144
1 160057670 rs73023672 T C 74.43 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.221;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.221;QD=9.3;ReadPosRankSum=0.322;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IGSF8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000314485 GT:AD:DP:GQ:PL 0/1:3,5:8:71.48:104,0,71
1 160085868 rs2854244 A C 49.99 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ATP1A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361216 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
1 160090674 rs2854246 T C 217.52 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=8.6986;MQ=60.0;MQ0=0;QD=31.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ATP1A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361216 GT:AD:DP:GQ:PL 1/1:0,7:7:18.06:250,18,0
1 160093222 rs2820581 C T 1866.35 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.16;MQ0=0;QD=33.93;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ATP1A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478587 GT:AD:DP:GQ:PL 1/1:0,55:55:99:1899,144,0
1 160093648 rs41265763 G A 33.83 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.72;QD=5.64;ReadPosRankSum=-0.72;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ATP1A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478587 GT:AD:DP:GQ:PL 0/1:4,2:6:63.82:64,0,137
1 160093911 rs2820582 T C 656.13 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.53;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ATP1A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478587 GT:AD:DP:GQ:PL 1/1:0,19:19:54.17:689,54,0
1 160093927 rs2854248 T A 247.68 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.096;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.096;QD=16.51;ReadPosRankSum=-0.556;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ATP1A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478587 GT:AD:DP:GQ:PL 0/1:7,8:15:99:278,0,240
1 160093942 rs17846707 G A 137.52 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.532;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=-0.387;QD=12.5;ReadPosRankSum=0.143;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ATP1A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478587 GT:AD:DP:GQ:PL 0/1:6,5:11:99:168,0,220
1 160095127 rs7548116 T A 265.12 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=1.271;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.898;QD=26.51;ReadPosRankSum=-0.48;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ATP1A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478587 GT:AD:DP:GQ:PL 0/1:2,8:10:51.14:295,0,51
1 160097315 rs2295623 C A 237.91 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=0.652;DB;DP=15;Dels=0.0;FS=3.31;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.555;QD=15.86;ReadPosRankSum=1.324;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ATP1A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468587 GT:AD:DP:GQ:PL 0/1:7,8:15:99:268,0,243
1 160097666 rs6695366 G A 926.21 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9916;MQ=60.0;MQ0=0;QD=34.3;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ATP1A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468587 GT:AD:DP:GQ:PL 1/1:0,27:27:72.21:959,72,0
1 160098543 rs1063125 G A 766.63 PASS AB=0.434;AC=1;AF=0.50;AN=2;BaseQRankSum=1.566;DB;DP=53;Dels=0.0;FS=3.978;HRun=0;HaplotypeScore=0.0;MQ=53.15;MQ0=1;MQRankSum=-1.879;QD=14.46;ReadPosRankSum=-0.553;SNPEFF_AMINO_ACID_CHANGE=S218;SNPEFF_CODON_CHANGE=tcG/tcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_160098442_160098728;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ATP1A2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000538123 GT:AD:DP:GQ:PL 0/1:23,30:53:99:797,0,670
1 160098668 . T G 317.33 PASS AB=0.524;AC=1;AF=0.50;AN=2;BaseQRankSum=2.782;DP=21;Dels=0.0;FS=3.245;HRun=0;HaplotypeScore=0.9789;MQ=57.99;MQ0=0;MQRankSum=-0.246;QD=15.11;ReadPosRankSum=0.387;SNPEFF_AMINO_ACID_CHANGE=I260R;SNPEFF_CODON_CHANGE=aTa/aGa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_160098442_160098728;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ATP1A2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000538123 GT:AD:DP:GQ:PL 0/1:11,10:21:99:347,0,329
1 160098927 rs5778151 A AG 2106.33 PASS AC=2;AF=1.00;AN=2;DB;DP=50;FS=0.0;HRun=1;HaplotypeScore=136.451;IndelType=I;MQ=61.02;MQ0=0;QD=42.13;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ATP1A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468587 GT:AD:DP:GQ:PL 1/1:0,50:50:99:2148,147,0
1 160100201 rs17846713 C G 723.87 PASS AB=0.447;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.078;DB;DP=47;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.6651;MQ=59.01;MQ0=0;MQRankSum=0.92;QD=15.4;ReadPosRankSum=1.451;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ATP1A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468587 GT:AD:DP:GQ:PL 0/1:21,26:47:99:754,0,592
1 160124875 rs6427504 G A 6049.38 PASS AC=2;AF=1.00;AN=2;DB;DP=193;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=6.1816;MQ=59.4;MQ0=0;QD=31.34;SNPEFF_AMINO_ACID_CHANGE=G83D;SNPEFF_CODON_CHANGE=gGt/gAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_160124835_160125038;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP1A4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368081 GT:AD:DP:GQ:PL 1/1:0,193:193:99:6049,448,0
1 160128671 rs4656888 G A 40.37 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.026;QD=10.09;ReadPosRankSum=-1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP1A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368081 GT:AD:DP:GQ:PL 0/1:2,2:4:70.37:70,0,72
1 160128994 rs10908764 C T 572.70 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP1A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368081 GT:AD:DP:GQ:PL 1/1:0,19:19:45.15:606,45,0
1 160129495 rs7551983 G A 156.34 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.27;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP1A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368081 GT:AD:DP:GQ:PL 1/1:0,5:5:15.03:189,15,0
1 160134205 rs11265338 C T 3051.57 PASS AC=2;AF=1.00;AN=2;DB;DP=84;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=59.45;MQ0=0;QD=36.33;SNPEFF_AMINO_ACID_CHANGE=A346;SNPEFF_CODON_CHANGE=gcC/gcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_160133946_160134214;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP1A4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000368081 GT:AD:DP:GQ:PL 1/1:0,84:84:99:3085,235,0
1 160136208 rs10797062 G A 320.69 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.11;MQ0=0;QD=32.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP1A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368081 GT:AD:DP:GQ:PL 1/1:0,10:10:27.09:354,27,0
1 160136225 rs41288135 A G 139.94 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.361;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.11;MQ0=0;MQRankSum=0.729;QD=13.99;ReadPosRankSum=0.729;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP1A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368081 GT:AD:DP:GQ:PL 0/1:4,6:10:99:170,0,132
1 160136350 rs7529215 G A 1191.51 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=50.31;MQ0=1;QD=31.36;SNPEFF_AMINO_ACID_CHANGE=A360;SNPEFF_CODON_CHANGE=gcG/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_160136318_160136516;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP1A4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000368081 GT:AD:DP:GQ:PL 1/1:0,38:38:93.28:1225,93,0
1 160137300 rs4656889 A C 274.41 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=0.495;DB;DP=22;Dels=0.0;FS=7.104;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.231;QD=12.47;ReadPosRankSum=-0.165;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP1A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368081 GT:AD:DP:GQ:PL 0/1:12,10:22:99:304,0,436
1 160137422 rs12063789 G A 77.20 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.727;QD=19.3;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP1A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368081 GT:AD:DP:GQ:PL 0/1:1,3:4:30.61:107,0,31
1 160140825 rs1186695 G A 68.65 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.88;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP1A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368081 GT:AD:DP:GQ:PL 1/1:0,3:3:9.02:101,9,0
1 160140886 rs1202164 T C 209.17 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.86;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP1A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368081 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:242,18,0
1 160140998 rs1209804 G A 972.14 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.161;DB;DP=81;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.72;MQ0=0;MQRankSum=-0.614;QD=12.0;ReadPosRankSum=2.103;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP1A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368081 GT:AD:DP:GQ:PL 0/1:45,36:81:99:1002,0,1333
1 160141196 rs625549 C T 1544.59 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.45;MQ0=0;QD=36.78;SNPEFF_AMINO_ACID_CHANGE=Y549;SNPEFF_CODON_CHANGE=taC/taT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_160141041_160141230;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP1A4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000368081 GT:AD:DP:GQ:PL 1/1:0,42:42:99:1578,117,0
1 160141285 rs669162 C T 270.40 PASS AB=0.419;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.381;DB;DP=86;Dels=0.0;FS=2.275;HRun=0;HaplotypeScore=3.2263;MQ=59.46;MQ0=0;MQRankSum=0.74;QD=3.14;ReadPosRankSum=-0.206;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP1A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368081 GT:AD:DP:GQ:PL 0/1:36,50:86:99:300,0,1301
1 160141286 rs625129 C G 300.82 PASS AB=0.409;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.788;DB;DP=88;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.2263;MQ=59.48;MQ0=0;MQRankSum=-0.395;QD=3.42;ReadPosRankSum=-0.403;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP1A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368081 GT:AD:DP:GQ:PL 0/1:36,52:88:99:331,0,1306
1 160144614 rs140327507 G A 106.41 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=49.84;MQ0=0;MQRankSum=0.922;QD=13.3;ReadPosRankSum=1.638;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP1A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368081 GT:AD:DP:GQ:PL 0/1:4,4:8:99:136,0,129
1 160145586 rs2180750 G T 125.87 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.47;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP1A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368081 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:158,12,0
1 160145688 rs1884996 C G 456.52 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.12;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP1A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368081 GT:AD:DP:GQ:PL 1/1:0,13:13:36.12:490,36,0
1 160146173 rs881291 T C 367.97 PASS AB=0.567;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.339;DB;DP=30;Dels=0.0;FS=1.468;HRun=0;HaplotypeScore=0.0;MQ=58.6;MQ0=0;MQRankSum=0.293;QD=12.27;ReadPosRankSum=-0.084;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP1A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368081 GT:AD:DP:GQ:PL 0/1:17,13:30:99:398,0,583
1 160147148 rs1408664 A G 106.92 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.421;QD=13.36;ReadPosRankSum=1.368;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP1A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368081 GT:AD:DP:GQ:PL 0/1:4,4:8:99:137,0,136
1 160147502 rs731852 T G 1810.16 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.6899;MQ=59.59;MQ0=0;QD=32.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP1A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368081 GT:AD:DP:GQ:PL 1/1:0,56:56:99:1843,138,0
1 160147510 rs731853 G A 643 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.784;DB;DP=48;Dels=0.0;FS=2.157;HRun=1;HaplotypeScore=1.7005;MQ=59.52;MQ0=0;MQRankSum=0.918;QD=13.4;ReadPosRankSum=-0.093;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP1A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368081 GT:AD:DP:GQ:PL 0/1:24,24:48:99:673,0,756
1 160151421 rs11265350 G C 107.30 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.533;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=54.85;MQ0=0;MQRankSum=-0.696;QD=7.66;ReadPosRankSum=-2.163;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP1A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368081 GT:AD:DP:GQ:PL 0/1:8,6:14:99:137,0,249
1 160151450 rs7519748 T C 578.58 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.04;MQ0=0;QD=32.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP1A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368081 GT:AD:DP:GQ:PL 1/1:0,18:18:48.15:612,48,0
1 160151624 rs71579661 G GC 3174.26 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.118;DB;DP=87;FS=0.0;HRun=3;HaplotypeScore=211.1769;IndelType=I;MQ=56.03;MQ0=0;MQRankSum=0.68;QD=36.49;ReadPosRankSum=1.381;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP1A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368081 GT:AD:DP:GQ:PL 1/1:10,77:87:99:3216,202,0
1 160152057 rs1935306 C T 89.85 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.95;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP1A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368081 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:122,9,0
1 160156027 rs12131640 C G 1607.10 PASS AB=0.482;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.209;DB;DP=114;Dels=0.0;FS=6.593;HRun=0;HaplotypeScore=0.6651;MQ=56.89;MQ0=0;MQRankSum=0.664;QD=14.1;ReadPosRankSum=1.409;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP1A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418334 GT:AD:DP:GQ:PL 0/1:55,59:114:99:1637,0,1731
1 160163446 rs3747621 C T 131.88 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.194;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.95;MQ0=0;MQRankSum=-1.485;QD=9.42;ReadPosRankSum=0.968;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CASQ1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368078 GT:AD:DP:GQ:PL 0/1:8,6:14:99:162,0,281
1 160163449 rs3747622 G C 122.16 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.447;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.34;MQ0=0;MQRankSum=-2.257;QD=7.64;ReadPosRankSum=0.405;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CASQ1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368078 GT:AD:DP:GQ:PL 0/1:9,7:16:99:152,0,287
1 160164668 rs1186693 T C 123.20 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=51.77;MQ0=0;QD=20.53;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CASQ1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368078 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:156,12,0
1 160165095 rs2275703 A C 62.65 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.406;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=10.44;ReadPosRankSum=0.406;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CASQ1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368078 GT:AD:DP:GQ:PL 0/1:3,3:6:92.64:93,0,93
1 160165449 . C CA 118.17 PASS AB=0.706;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.533;DP=12;FS=8.195;HRun=0;HaplotypeScore=52.0848;IndelType=I;MQ=62.65;MQ0=0;MQRankSum=1.134;QD=9.85;ReadPosRankSum=-0.529;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CASQ1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368078 GT:AD:DP:GQ:PL 0/1:7,5:12:99:157,0,239
1 160165451 rs10908769 C T 134.03 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.036;DB;DP=10;Dels=0.0;FS=8.751;HRun=0;HaplotypeScore=0.0;MQ=62.13;MQ0=0;MQRankSum=-1.866;QD=13.4;ReadPosRankSum=0.633;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CASQ1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368078 GT:AD:DP:GQ:PL 0/1:4,6:10:78.25:164,0,78
1 160165572 rs60043899 T A 187.72 PASS AB=0.65;AC=1;AF=0.50;AN=2;BaseQRankSum=1.109;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.158;QD=9.39;ReadPosRankSum=-2.06;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CASQ1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368078 GT:AD:DP:GQ:PL 0/1:13,7:20:99:218,0,434
1 160169473 rs959166 T C 52.75 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.58;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CASQ1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481081 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:84,6,0
1 160178356 rs667306 A G 971.11 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.25;MQ0=0;QD=31.33;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PEA15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360472 GT:AD:DP:GQ:PL 1/1:0,31:31:75.25:1004,75,0
1 160214027 rs2275700 T C 95.02 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.67;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DCAF8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326837 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:127,9,0
1 160236470 rs11265366 T A 2457.06 PASS AC=2;AF=1.00;AN=2;DB;DP=84;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=52.06;MQ0=0;QD=29.25;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DCAF8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000555195 GT:AD:DP:GQ:PL 1/1:0,84:84:99:2490,204,0
1 160251792 rs2795067 A G 725.65 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.95;MQ0=0;QD=32.98;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PEX19;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000524939 GT:AD:DP:GQ:PL 1/1:0,22:22:57.19:759,57,0
1 160260233 rs2298104 T C 1047.36 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=59.45;MQ0=0;QD=30.8;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COPA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000545284 GT:AD:DP:GQ:PL 1/1:0,34:34:84.27:1080,84,0
1 160262678 rs2369474 T C 83.65 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.88;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COPA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000545284 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:116,9,0
1 160263124 rs1317944 C T 920.57 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.17;MQ0=0;QD=32.88;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COPA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000545284 GT:AD:DP:GQ:PL 1/1:1,26:28:72.23:954,72,0
1 160265515 rs3789042 T C 1096.33 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COPA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000241704 GT:AD:DP:GQ:PL 1/1:0,32:32:84.24:1129,84,0
1 160275434 rs2066320 A G 1721.96 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=3.1845;MQ=59.6;MQ0=0;QD=30.21;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COPA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481040 GT:AD:DP:GQ:PL 1/1:0,57:57:99:1755,138,0
1 160276709 rs7522166 T C 52.28 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.43;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COPA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481040 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:84,6,0
1 160302444 rs4656897 G A 208.42 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.74;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COPA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000541366 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:241,18,0
1 160303416 rs1802778 G A 814.60 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;QD=30.17;SNPEFF_AMINO_ACID_CHANGE=N121;SNPEFF_CODON_CHANGE=aaC/aaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_160303393_160303469;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COPA;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000241704 GT:AD:DP:GQ:PL 1/1:0,27:27:60.20:848,60,0
1 160309509 rs1886420 T A 83.70 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.9;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COPA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000241704 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:116,9,0
1 160309664 rs1886419 T G 1798.64 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.59;MQ0=0;QD=32.12;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COPA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000241704 GT:AD:DP:GQ:PL 1/1:0,56:56:99:1832,138,0
1 160313733 rs1886417 C A 49.41 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=51.77;MQ0=0;QD=16.47;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NCSTN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294785 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:81,6,0
1 160318940 rs6669689 A G 814.90 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.6;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NCSTN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465223 GT:AD:DP:GQ:PL 1/1:0,25:25:66.20:848,66,0
1 160393905 rs12086448 A G 831.49 PASS AB=0.485;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.5;DB;DP=68;Dels=0.0;FS=3.468;HRun=0;HaplotypeScore=1.9648;MQ=59.32;MQ0=0;MQRankSum=0.72;QD=12.23;ReadPosRankSum=-0.935;SNPEFF_AMINO_ACID_CHANGE=K379;SNPEFF_CODON_CHANGE=aaA/aaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_160393842_160394073;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VANGL2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000368061 GT:AD:DP:GQ:PL 0/1:33,35:68:99:861,0,860
1 160394173 rs12087593 A G 82.08 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=20.52;ReadPosRankSum=-0.727;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VANGL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000483408 GT:AD:DP:GQ:PL 0/1:1,3:4:27.97:112,0,28
1 160394937 rs17380127 A C 249.71 PASS AB=0.588;AC=1;AF=0.50;AN=2;BaseQRankSum=1.271;DB;DP=34;Dels=0.0;FS=1.451;HRun=2;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=-0.534;QD=7.34;ReadPosRankSum=-0.461;SNPEFF_AMINO_ACID_CHANGE=G445;SNPEFF_CODON_CHANGE=ggA/ggC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_160394908_160398468;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VANGL2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000368061 GT:AD:DP:GQ:PL 0/1:20,14:34:99:280,0,643
1 160395003 rs17380141 G A 441.98 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.171;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.482;QD=13.0;ReadPosRankSum=-1.033;SNPEFF_AMINO_ACID_CHANGE=P467;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_160394908_160398468;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VANGL2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000368061 GT:AD:DP:GQ:PL 0/1:17,17:34:99:472,0,556
1 160458782 rs3795327 A G 139.61 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.27;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLAMF6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368055 GT:AD:DP:GQ:PL 1/1:0,6:6:15.04:172,15,0
1 160473270 rs6700440 T C 1236.30 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLAMF6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368055 GT:AD:DP:GQ:PL 1/1:0,40:40:96.31:1269,96,0
1 160473286 rs17385407 G T 1331.43 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.98;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLAMF6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368055 GT:AD:DP:GQ:PL 1/1:0,37:37:99:1364,102,0
1 160473563 rs6700764 T A 48.77 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=16.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLAMF6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368055 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:80,6,0
1 160519812 rs3832278 C CA 1297.96 PASS AC=2;AF=1.00;AN=2;DB;DP=31;FS=0.0;HRun=1;HaplotypeScore=197.4071;IndelType=I;MQ=51.6;MQ0=0;QD=41.87;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD84;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360056 GT:AD:DP:GQ:PL 1/1:6,25:31:90.30:1340,90,0
1 160519815 rs58960001 C CT 1215.87 PASS AC=2;AF=1.00;AN=2;DB;DP=28;FS=0.0;HRun=1;HaplotypeScore=176.6029;IndelType=I;MQ=52.53;MQ0=0;QD=43.42;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD84;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360056 GT:AD:DP:GQ:PL 1/1:0,28:28:84.28:1258,84,0
1 160580807 rs349251 T C 87.94 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.31;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLAMF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355199 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:120,9,0
1 160582248 rs11265449 C G 150.09 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=56.62;MQ0=0;MQRankSum=0.736;QD=21.44;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLAMF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355199 GT:AD:DP:GQ:PL 0/1:2,5:7:19.74:180,0,20
1 160585554 rs149160 C G 869.35 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.99;MQ0=0;QD=37.8;SNPEFF_AMINO_ACID_CHANGE=S290T;SNPEFF_CODON_CHANGE=aGt/aCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_160585526_160585558;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLAMF1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000355199 GT:AD:DP:GQ:PL 1/1:0,23:23:66.21:902,66,0
1 160607127 . C A 552.68 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=4.067;DP=48;Dels=0.0;FS=1.248;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.136;QD=11.28;ReadPosRankSum=0.115;SNPEFF_AMINO_ACID_CHANGE=R90L;SNPEFF_CODON_CHANGE=cGt/cTt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_160606981_160607319;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLAMF1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000235739 GT:AD:DP:GQ:PL 0/1:28,20:48:99:583,0,815
1 160616768 rs12076998 G A 110.99 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.421;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9999;MQ=60.0;MQ0=0;MQRankSum=0.922;QD=12.33;ReadPosRankSum=-0.421;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLAMF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000494463 GT:AD:DP:GQ:PL 0/1:5,4:9:99:141,0,147
1 160650913 rs4656926 A G 190.06 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.68;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD48;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368045 GT:AD:DP:GQ:PL 1/1:0,6:6:18.05:223,18,0
1 160650938 rs6667145 C T 182.88 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.398;DB;DP=11;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=-1.246;QD=16.63;ReadPosRankSum=-0.278;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD48;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368045 GT:AD:DP:GQ:PL 0/1:4,7:11:99:213,0,126
1 160654786 rs1980606 G A 1333.22 PASS AB=0.51;AC=1;AF=0.50;AN=2;BaseQRankSum=1.253;DB;DP=98;Dels=0.0;FS=5.269;HRun=0;HaplotypeScore=0.0;MQ=59.53;MQ0=0;MQRankSum=0.982;QD=13.6;ReadPosRankSum=-0.828;SNPEFF_AMINO_ACID_CHANGE=G92;SNPEFF_CODON_CHANGE=ggC/ggT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_160653309_160654979;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD48;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000368045 GT:AD:DP:GQ:PL 0/1:50,48:98:99:1363,0,1432
1 160717872 rs527733 T G 149.67 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.93;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SLAMF7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359331 GT:AD:DP:GQ:PL 1/1:0,5:5:15.04:182,15,0
1 160722064 rs527342 A G 774.19 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.19;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SLAMF7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000488819 GT:AD:DP:GQ:PL 1/1:0,22:22:60.17:807,60,0
1 160766179 rs77433248 C CT 573.41 PASS AB=0.711;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.884;DB;DP=54;FS=5.036;HRun=8;HaplotypeScore=163.1879;IndelType=I;MQ=60.14;MQ0=0;MQRankSum=-0.593;QD=10.62;ReadPosRankSum=-0.03;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=LY9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263285 GT:AD:DP:GQ:PL 0/1:32,22:54:99:612,0,594
1 160771761 rs1556517 C A 33.70 QDFilter2 AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.101;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=4.5204;MQ=47.12;MQ0=0;MQRankSum=-0.312;QD=1.87;ReadPosRankSum=-0.66;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=LY9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474998 GT:AD:DP:GQ:PL 0/1:9,9:18:63.69:64,0,93
1 160786670 rs560681 A G 844.97 PASS AB=0.491;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.008;DB;DP=55;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.58;MQ0=0;MQRankSum=-0.783;QD=15.36;ReadPosRankSum=-0.716;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=LY9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471816 GT:AD:DP:GQ:PL 0/1:27,28:55:99:875,0,772
1 160788131 rs3817407 T C 276.32 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.147;DB;DP=27;Dels=0.0;FS=10.922;HRun=0;HaplotypeScore=0.0;MQ=58.27;MQ0=0;MQRankSum=1.0;QD=10.23;ReadPosRankSum=1.781;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=LY9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471816 GT:AD:DP:GQ:PL 0/1:15,12:27:99:306,0,454
1 160788217 rs575217 T A 174.64 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.191;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=0.467;QD=14.55;ReadPosRankSum=0.467;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=LY9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471816 GT:AD:DP:GQ:PL 0/1:6,6:12:99:205,0,211
1 160788270 rs508166 C T 49.41 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.7;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=LY9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471816 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
1 160789196 rs537540 A C 1583.98 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7356;MQ=59.5;MQ0=0;QD=34.43;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=LY9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471816 GT:AD:DP:GQ:PL 1/1:0,46:46:99:1617,123,0
1 160789308 rs522897 C T 172.82 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.8;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=LY9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471816 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:206,15,0
1 160793442 rs474131 A G 2907.73 PASS AC=2;AF=1.00;AN=2;DB;DP=89;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.5678;MQ=60.0;MQ0=0;QD=32.67;SNPEFF_AMINO_ACID_CHANGE=V200;SNPEFF_CODON_CHANGE=gtA/gtG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_160793297_160793586;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=LY9;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000368035 GT:AD:DP:GQ:PL 1/1:0,89:89:99:2941,235,0
1 160793560 rs509749 A G 3130.27 PASS AC=2;AF=1.00;AN=2;DB;DP=85;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=59.51;MQ0=0;QD=36.83;SNPEFF_AMINO_ACID_CHANGE=M240V;SNPEFF_CODON_CHANGE=Atg/Gtg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_160793297_160793586;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=LY9;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368035 GT:AD:DP:GQ:PL 1/1:0,85:85:99:3163,238,0
1 160793962 rs506081 G C 3342.88 PASS AC=2;AF=1.00;AN=2;DB;DP=95;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=59.76;MQ0=0;QD=35.19;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=LY9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263285 GT:AD:DP:GQ:PL 1/1:0,94:95:99:3343,241,0
1 160797323 rs577453 T G 152.53 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.82;MQ0=0;QD=25.42;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD244;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000322302 GT:AD:DP:GQ:PL 1/1:0,6:6:15.04:185,15,0
1 160797514 rs576334 C G 2856.33 PASS AC=2;AF=1.00;AN=2;DB;DP=79;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;QD=36.16;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD244;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000322302 GT:AD:DP:GQ:PL 1/1:0,79:79:99:2889,211,0
1 160797684 rs574610 A G 1245 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.32;MQ0=0;QD=36.62;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD244;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000322302 GT:AD:DP:GQ:PL 1/1:0,34:34:93.31:1278,93,0
1 160801046 rs480104 C G 989.64 PASS AB=0.367;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.302;DB;DP=49;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.7658;MQ=59.53;MQ0=0;MQRankSum=1.401;QD=20.2;ReadPosRankSum=2.457;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD244;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000322302 GT:AD:DP:GQ:PL 0/1:18,31:49:99:1020,0,535
1 160803802 rs11265493 A G 569.32 PASS AB=0.468;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.035;DB;DP=47;Dels=0.0;FS=7.817;HRun=0;HaplotypeScore=1.832;MQ=60.0;MQ0=0;MQRankSum=0.759;QD=12.11;ReadPosRankSum=0.847;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD244;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000322302 GT:AD:DP:GQ:PL 0/1:22,25:47:99:599,0,718
1 160806019 rs35224927 C G 276.84 PASS AB=0.478;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.364;DB;DP=24;Dels=0.0;FS=7.025;HRun=0;HaplotypeScore=1.6316;MQ=59.03;MQ0=0;MQRankSum=0.657;QD=11.54;ReadPosRankSum=-0.985;SNPEFF_AMINO_ACID_CHANGE=G195A;SNPEFF_CODON_CHANGE=gGg/gCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_160805985_160806044;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD244;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000322302 GT:AD:DP:GQ:PL 0/1:11,12:24:99:307,0,358
1 160811830 rs2990703 A G 52.64 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD244;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000322302 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
1 160846284 rs1333062 T G 41.43 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.026;QD=10.36;ReadPosRankSum=1.026;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITLN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326245 GT:AD:DP:GQ:PL 0/1:2,2:4:67.92:71,0,68
1 160848993 rs3766357 G A 129.03 PASS AB=0.647;AC=1;AF=0.50;AN=2;BaseQRankSum=3.266;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.357;QD=7.59;ReadPosRankSum=-1.558;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITLN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464077 GT:AD:DP:GQ:PL 0/1:11,6:17:99:159,0,326
1 160849030 rs3766358 T A 527.18 PASS AB=0.575;AC=1;AF=0.50;AN=2;BaseQRankSum=0.892;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9789;MQ=60.0;MQ0=0;MQRankSum=0.014;QD=13.18;ReadPosRankSum=0.722;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITLN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464077 GT:AD:DP:GQ:PL 0/1:23,17:40:99:557,0,727
1 160849060 rs3766359 G A 857.91 PASS AB=0.536;AC=1;AF=0.50;AN=2;BaseQRankSum=3.688;DB;DP=69;Dels=0.0;FS=2.204;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.126;QD=12.43;ReadPosRankSum=0.054;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITLN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464077 GT:AD:DP:GQ:PL 0/1:37,32:69:99:888,0,1043
1 160849082 rs3820094 A G 835.94 PASS AB=0.547;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.194;DB;DP=86;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.648;QD=9.72;ReadPosRankSum=-0.225;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITLN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464077 GT:AD:DP:GQ:PL 0/1:47,39:86:99:866,0,1434
1 160850280 rs4656957 G A 1547.29 PASS AB=0.485;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.472;DB;DP=103;Dels=0.0;FS=0.974;HRun=1;HaplotypeScore=0.0;MQ=59.41;MQ0=0;MQRankSum=-0.442;QD=15.02;ReadPosRankSum=-0.248;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITLN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464077 GT:AD:DP:GQ:PL 0/1:50,53:103:99:1577,0,1638
1 160850936 rs2236515 T C 165.78 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.34;DB;DP=27;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.9;QD=6.14;ReadPosRankSum=0.129;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITLN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464077 GT:AD:DP:GQ:PL 0/1:18,9:27:99:196,0,613
1 160851534 rs7532133 A G 217.14 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=2.777;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=58.2;MQ0=0;MQRankSum=-1.791;QD=16.7;ReadPosRankSum=1.493;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITLN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326245 GT:AD:DP:GQ:PL 0/1:6,7:13:99:247,0,191
1 160851564 rs6427551 C G 171.85 PASS AB=0.611;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.63;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=53.23;MQ0=0;MQRankSum=-0.181;QD=9.55;ReadPosRankSum=0.906;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITLN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326245 GT:AD:DP:GQ:PL 0/1:11,7:18:99:202,0,368
1 160851594 rs111563946 GAAAAAAA G 127.78 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=0.159;DB;DP=42;FS=0.0;HRun=21;HaplotypeScore=499.3501;IndelType=D;MQ=44.19;MQ0=0;MQRankSum=0.637;QD=3.04;ReadPosRankSum=-0.106;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITLN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326245 GT:AD:DP:GQ:PL 0/1:22,10:42:99:167,0,1703
1 160851619 rs10908808 A G 199.08 PASS AB=0.574;AC=1;AF=0.50;AN=2;BaseQRankSum=1.684;DB;DP=48;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=6.4852;MQ=45.72;MQ0=0;MQRankSum=-1.684;QD=4.15;ReadPosRankSum=1.378;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITLN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326245 GT:AD:DP:GQ:PL 0/1:27,20:48:99:229,0,143
1 160851826 rs2274907 A T 905.44 PASS AB=0.537;AC=1;AF=0.50;AN=2;BaseQRankSum=0.612;DB;DP=68;Dels=0.0;FS=2.188;HRun=0;HaplotypeScore=0.6651;MQ=58.23;MQ0=0;MQRankSum=-1.002;QD=13.32;ReadPosRankSum=-0.074;SNPEFF_AMINO_ACID_CHANGE=V109D;SNPEFF_CODON_CHANGE=gTc/gAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_160851747_160851994;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITLN1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000326245 GT:AD:DP:GQ:PL 0/1:36,31:68:99:935,0,1051
1 160851894 rs2274908 G A 759.62 PASS AB=0.481;AC=1;AF=0.50;AN=2;BaseQRankSum=2.207;DB;DP=54;Dels=0.0;FS=1.065;HRun=0;HaplotypeScore=1.7323;MQ=58.42;MQ0=0;MQRankSum=-0.147;QD=14.07;ReadPosRankSum=-0.026;SNPEFF_AMINO_ACID_CHANGE=H86;SNPEFF_CODON_CHANGE=caC/caT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_160851747_160851994;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITLN1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000326245 GT:AD:DP:GQ:PL 0/1:26,28:54:99:790,0,819
1 160852022 rs2274909 C T 529.20 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.195;DB;DP=42;Dels=0.0;FS=15.685;HRun=0;HaplotypeScore=0.5784;MQ=59.34;MQ0=0;MQRankSum=-0.629;QD=12.6;ReadPosRankSum=-0.05;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITLN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326245 GT:AD:DP:GQ:PL 0/1:21,21:42:99:559,0,695
1 160852046 rs2274910 T C 498.10 PASS AB=0.535;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.995;DB;DP=43;Dels=0.0;FS=11.742;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.039;QD=11.58;ReadPosRankSum=-0.561;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITLN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326245 GT:AD:DP:GQ:PL 0/1:23,20:43:99:528,0,636
1 160854445 rs2039415 T C 570.16 PASS AB=0.472;AC=1;AF=0.50;AN=2;BaseQRankSum=0.982;DB;DP=36;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.36;MQ0=0;MQRankSum=-1.521;QD=15.84;ReadPosRankSum=1.046;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITLN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326245 GT:AD:DP:GQ:PL 0/1:17,19:36:99:600,0,579
1 160854526 rs2297559 G A 1055.62 PASS AB=0.512;AC=1;AF=0.50;AN=2;BaseQRankSum=2.859;DB;DP=82;Dels=0.0;FS=11.342;HRun=2;HaplotypeScore=1.5741;MQ=59.72;MQ0=0;MQRankSum=-1.233;QD=12.87;ReadPosRankSum=0.638;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITLN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326245 GT:AD:DP:GQ:PL 0/1:42,40:82:99:1086,0,1314
1 160865612 rs112211905 A C 1867.22 PASS AB=0.469;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.523;DB;DP=128;Dels=0.0;FS=1.4;HRun=0;HaplotypeScore=2.0756;MQ=59.85;MQ0=0;MQRankSum=-1.005;QD=14.59;ReadPosRankSum=-0.59;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP11-312J18.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000425270 GT:AD:DP:GQ:PL 0/1:60,68:128:99:1897,0,1962
1 160920809 rs3829790 A G 815.82 PASS AB=0.594;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.881;DB;DP=102;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.565;MQ=54.07;MQ0=0;MQRankSum=1.366;QD=8.0;ReadPosRankSum=-0.31;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITLN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368029 GT:AD:DP:GQ:PL 0/1:60,41:102:99:846,0,1573
1 160920813 rs790059 A G 2816.04 PASS AC=2;AF=1.00;AN=2;DB;DP=103;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.565;MQ=54.63;MQ0=0;QD=27.34;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITLN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368029 GT:AD:DP:GQ:PL 1/1:0,102:103:99:2849,223,0
1 160920966 rs6680969 C T 713.82 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.776;DB;DP=56;Dels=0.0;FS=1.01;HRun=0;HaplotypeScore=0.0;MQ=59.59;MQ0=0;MQRankSum=-0.412;QD=12.75;ReadPosRankSum=0.311;SNPEFF_AMINO_ACID_CHANGE=R103H;SNPEFF_CODON_CHANGE=cGt/cAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_160920833_160921080;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITLN2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368029 GT:AD:DP:GQ:PL 0/1:28,28:56:99:744,0,798
1 160921230 rs4656971 T G 35.94 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.72;QD=5.99;ReadPosRankSum=0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITLN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368029 GT:AD:DP:GQ:PL 0/1:4,2:6:65.93:66,0,147
1 160968609 rs41269993 G A 406.39 PASS AB=0.517;AC=1;AF=0.50;AN=2;BaseQRankSum=4.299;DB;DP=29;Dels=0.0;FS=6.495;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.895;QD=14.01;ReadPosRankSum=0.196;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=F11R;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470694 GT:AD:DP:GQ:PL 0/1:15,14:29:99:436,0,435
1 160969008 rs3831190 T TG 1982.66 PASS AC=2;AF=1.00;AN=2;DB;DP=52;FS=0.0;HRun=4;HaplotypeScore=113.6845;IndelType=I;MQ=59.53;MQ0=0;QD=38.13;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=F11R;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470694 GT:AD:DP:GQ:PL 1/1:4,48:52:99:2025,150,0
1 160969110 rs2297222 T C 2637.65 PASS AB=0.497;AC=1;AF=0.50;AN=2;BaseQRankSum=1.649;DB;DP=193;Dels=0.0;FS=1.946;HRun=4;HaplotypeScore=3.4401;MQ=59.28;MQ0=0;MQRankSum=0.429;QD=13.67;ReadPosRankSum=0.135;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=F11R;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470694 GT:AD:DP:GQ:PL 0/1:96,97:193:99:2668,0,3041
1 160969585 rs790056 C T 2212.62 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.69;MQ0=0;QD=36.27;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=F11R;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470694 GT:AD:DP:GQ:PL 1/1:0,60:60:99:2246,181,0
1 160969930 rs869985 A C 441.14 PASS AB=0.673;AC=1;AF=0.50;AN=2;BaseQRankSum=3.007;DB;DP=52;Dels=0.0;FS=1.29;HRun=1;HaplotypeScore=0.9469;MQ=59.56;MQ0=0;MQRankSum=-0.01;QD=8.48;ReadPosRankSum=-1.509;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=F11R;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470694 GT:AD:DP:GQ:PL 0/1:35,17:52:99:471,0,987
1 160970968 rs2297221 G A 643.49 PASS AB=0.432;AC=1;AF=0.50;AN=2;BaseQRankSum=2.407;DB;DP=37;Dels=0.0;FS=3.012;HRun=1;HaplotypeScore=1.5774;MQ=59.38;MQ0=0;MQRankSum=0.966;QD=17.39;ReadPosRankSum=0.138;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=F11R;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289779 GT:AD:DP:GQ:PL 0/1:16,21:37:99:673,0,471
1 160971015 rs2297220 G C 740.87 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.225;DB;DP=40;Dels=0.0;FS=1.45;HRun=0;HaplotypeScore=0.9665;MQ=59.42;MQ0=0;MQRankSum=-1.288;QD=18.52;ReadPosRankSum=-0.143;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=F11R;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289779 GT:AD:DP:GQ:PL 0/1:16,24:40:99:771,0,287
1 160971146 rs790055 A G 1182.10 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7791;MQ=58.13;MQ0=0;QD=33.77;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=F11R;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289779 GT:AD:DP:GQ:PL 1/1:0,35:35:90.27:1215,90,0
1 160971155 rs2297219 G C 583.32 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=0.038;DB;DP=33;Dels=0.0;FS=7.935;HRun=0;HaplotypeScore=1.7791;MQ=58.01;MQ0=0;MQRankSum=-0.227;QD=17.68;ReadPosRankSum=1.171;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=F11R;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289779 GT:AD:DP:GQ:PL 0/1:15,18:33:99:613,0,403
1 160990878 rs28365978 C T 52.20 QDFilter2 AB=0.314;AC=1;AF=0.50;AN=2;BaseQRankSum=1.547;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.62;MQ0=0;MQRankSum=0.714;QD=1.49;ReadPosRankSum=-0.397;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_1_160990800_160990968;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=F11R;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000368026 GT:AD:DP:GQ:PL 0/1:11,24:35:82.20:82,0,293
1 160990906 rs2481085 G A 148.72 PASS AB=0.679;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.344;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.33;MQ0=0;MQRankSum=0.394;QD=5.31;ReadPosRankSum=-0.738;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=F11R;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289779 GT:AD:DP:GQ:PL 0/1:19,9:28:99:179,0,633
1 161010762 rs2073658 C T 67.16 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=0.55;DB;DP=7;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.937;QD=9.59;ReadPosRankSum=-0.937;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491629 GT:AD:DP:GQ:PL 0/1:4,3:7:97.15:97,0,136
1 161010774 rs2516841 A G 89.26 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.75;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491629 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:121,9,0
1 161010791 rs2073657 C T 41.81 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.9;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491629 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:73,6,0
1 161011317 rs2516840 A G 434.13 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.33;MQ0=0;QD=31.01;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000529476 GT:AD:DP:GQ:PL 1/1:0,14:14:39.10:467,39,0
1 161011355 rs2073656 G C 178.08 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=2.18;DB;DP=15;Dels=0.0;FS=6.41;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.237;QD=11.87;ReadPosRankSum=0.766;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000529476 GT:AD:DP:GQ:PL 0/1:9,6:15:99:208,0,325
1 161011716 rs2774276 G C 558.79 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.92;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368019 GT:AD:DP:GQ:PL 1/1:0,16:16:45.15:592,45,0
1 161012590 rs2073655 G A 1034.63 PASS AB=0.487;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.65;DB;DP=76;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9933;MQ=59.7;MQ0=0;MQRankSum=-0.081;QD=13.61;ReadPosRankSum=-2.049;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ARHGAP30;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368013 GT:AD:DP:GQ:PL 0/1:37,39:76:99:1065,0,1141
1 161013121 rs2516839 C T 1634.62 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.227;DB;DP=49;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.989;MQ=59.53;MQ0=0;MQRankSum=-0.505;QD=33.36;ReadPosRankSum=1.011;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ARHGAP30;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368013 GT:AD:DP:GQ:PL 1/1:1,48:49:93.85:1668,94,0
1 161017556 rs2774279 C T 1119.57 PASS AB=0.468;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.955;DB;DP=77;Dels=0.0;FS=0.874;HRun=0;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=-1.006;QD=14.54;ReadPosRankSum=0.801;SNPEFF_AMINO_ACID_CHANGE=R1085;SNPEFF_CODON_CHANGE=agG/agA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_161016738_161019124;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ARHGAP30;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000368013 GT:AD:DP:GQ:PL 0/1:36,41:77:99:1150,0,1059
1 161019040 rs3813609 G C 3368.20 PASS AC=2;AF=1.00;AN=2;DB;DP=106;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.4725;MQ=59.78;MQ0=0;QD=31.78;SNPEFF_AMINO_ACID_CHANGE=L414V;SNPEFF_CODON_CHANGE=Ctg/Gtg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_161016739_161019124;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ARHGAP30;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368015 GT:AD:DP:GQ:PL 1/1:0,106:106:99:3368,268,0
1 161019621 rs11588189 C T 34.95 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=-1.026;QD=8.74;ReadPosRankSum=1.026;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ARHGAP30;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368018 GT:AD:DP:GQ:PL 0/1:2,2:4:64.95:65,0,68
1 161020997 rs55728374 C T 701.34 PASS AB=0.531;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.335;DB;DP=49;Dels=0.0;FS=1.11;HRun=0;HaplotypeScore=1.7608;MQ=59.45;MQ0=0;MQRankSum=-0.093;QD=14.03;ReadPosRankSum=-0.445;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ARHGAP30;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368018 GT:AD:DP:GQ:PL 0/1:26,23:49:99:731,0,750
1 161021893 rs12749496 G C 209.35 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.89;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ARHGAP30;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368018 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:242,18,0
1 161022380 rs4396136 G A 3066.85 PASS AC=2;AF=1.00;AN=2;DB;DP=77;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.7;MQ0=0;QD=39.83;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ARHGAP30;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368018 GT:AD:DP:GQ:PL 1/1:0,77:77:99:3100,229,0
1 161022639 rs3813610 C G 494.80 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.45;MQ0=0;QD=32.99;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ARHGAP30;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368018 GT:AD:DP:GQ:PL 1/1:0,15:15:42.11:528,42,0
1 161023353 rs3829791 T C 56.98 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.99;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ARHGAP30;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471492 GT:AD:DP:GQ:PL 1/1:0,3:3:9:89,9,0
1 161043735 rs4656285 A C 249.65 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;QD=27.74;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PVRL4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460234 GT:AD:DP:GQ:PL 1/1:0,9:9:27.05:283,27,0
1 161043764 rs4656978 G A 195.77 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.63;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PVRL4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460234 GT:AD:DP:GQ:PL 1/1:0,6:6:18.05:229,18,0
1 161047125 rs67993510 CTATA C 4090.25 PASS AC=2;AF=1.00;AN=2;DB;DP=76;FS=0.0;HRun=0;HaplotypeScore=401.3487;IndelType=D;MQ=54.53;MQ0=0;QD=53.82;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PVRL4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460234 GT:AD:DP:GQ:PL 1/1:1,75:76:99:4090,223,0
1 161049358 rs3820097 G A 418.17 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.45;MQ0=0;QD=27.88;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PVRL4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368012 GT:AD:DP:GQ:PL 1/1:0,15:15:36.11:451,36,0
1 161068836 rs11576830 A C 259.65 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.64;SNPEFF_AMINO_ACID_CHANGE=S171R;SNPEFF_CODON_CHANGE=Agc/Cgc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_161068184_161068852;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KLHDC9;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000368011 GT:AD:DP:GQ:PL 1/1:0,12:12:24.07:293,24,0
1 161088695 rs41270019 A C 1042.81 PASS AB=0.437;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.256;DB;DP=71;Dels=0.0;FS=2.143;HRun=1;HaplotypeScore=0.0;MQ=59.68;MQ0=0;MQRankSum=0.733;QD=14.69;ReadPosRankSum=-0.65;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=DEDD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368005 GT:AD:DP:GQ:PL 0/1:31,40:71:99:1073,0,990
1 161089450 rs111473243 C CTAAACT 1368.67 PASS AC=2;AF=1.00;AN=2;DB;DP=14;FS=0.0;HRun=0;HaplotypeScore=53.7048;IndelType=I;MQ=37.69;MQ0=0;QD=97.76;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=DEDD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368005 GT:AD:DP:GQ:PL 1/1:1,11:14:42.14:1411,42,0
1 161091814 rs66849321 T TA 190.41 PASS AB=0.785;AC=1;AF=0.50;AN=2;BaseQRankSum=1.445;DB;DP=51;FS=0.0;HRun=17;HaplotypeScore=430.9988;IndelType=I;MQ=43.82;MQ0=0;MQRankSum=-1.28;QD=3.73;ReadPosRankSum=-1.032;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=DEDD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463227 GT:AD:DP:GQ:PL 0/1:36,10:51:9.09:229,0,9
1 161126975 rs12031437 C G 707.69 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.77;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=UFC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368003 GT:AD:DP:GQ:PL 1/1:0,23:23:63.16:741,63,0
1 161130701 rs34779722 C T 385.28 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.75;DB;DP=30;Dels=0.0;FS=8.916;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.875;QD=12.84;ReadPosRankSum=0.553;SNPEFF_AMINO_ACID_CHANGE=P91S;SNPEFF_CODON_CHANGE=Cct/Tct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_161130410_161131030;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=USP21;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000289865 GT:AD:DP:GQ:PL 0/1:14,16:30:99:415,0,419
1 161136843 rs2301287 C G 1269.26 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.92;MQ0=0;QD=32.55;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=B4GALT3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310413 GT:AD:DP:GQ:PL 1/1:0,39:39:99:1302,102,0
1 161141432 rs6779 C G 50.52 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.26;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=B4GALT3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367997 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
1 161142230 rs141311167 GA G 150.27 PASS AC=2;AF=1.00;AN=2;DB;DP=7;FS=0.0;HRun=9;HaplotypeScore=21.8993;IndelType=D;MQ=56.62;MQ0=0;QD=21.47;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=B4GALT3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460415 GT:AD:DP:GQ:PL 1/1:0,7:7:21.01:192,21,0
1 161143312 rs11579514 T C 3032.69 PASS AC=2;AF=1.00;AN=2;DB;DP=93;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=59.75;MQ0=0;QD=32.61;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=B4GALT3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460415 GT:AD:DP:GQ:PL 1/1:0,93:93:99:3066,226,0
1 161143969 rs11265561 A G 198.66 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.11;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=B4GALT3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460415 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:232,18,0
1 161162173 rs7512012 G A 115.96 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.19;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADAMTS4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367995 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:148,12,0
1 161163037 rs4233367 T C 462.16 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=56.95;MQ0=0;QD=33.01;SNPEFF_AMINO_ACID_CHANGE=Q626R;SNPEFF_CODON_CHANGE=cAg/cGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_161163003_161163178;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADAMTS4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367996 GT:AD:DP:GQ:PL 1/1:0,14:14:39.12:495,39,0
1 161163633 rs3813622 C T 699.39 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.3;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADAMTS4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367995 GT:AD:DP:GQ:PL 1/1:0,21:21:54.18:732,54,0
1 161164166 rs11265564 A G 66.49 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.16;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADAMTS4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367995 GT:AD:DP:GQ:PL 1/1:0,3:3:9.02:99,9,0
1 161166723 rs35630547 G T 825.29 PASS AB=0.412;AC=1;AF=0.50;AN=2;BaseQRankSum=0.703;DB;DP=51;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.7987;MQ=60.0;MQ0=0;MQRankSum=0.069;QD=16.18;ReadPosRankSum=-0.604;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADAMTS4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367995 GT:AD:DP:GQ:PL 0/1:21,30:51:99:855,0,684
1 161167698 rs4589131 T G 361.21 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.05;MQ0=0;QD=30.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADAMTS4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367995 GT:AD:DP:GQ:PL 1/1:0,12:12:30.10:394,30,0
1 161168004 rs33941127 C T 452.67 PASS AB=0.646;AC=1;AF=0.50;AN=2;BaseQRankSum=2.501;DB;DP=48;Dels=0.0;FS=2.554;HRun=0;HaplotypeScore=0.0;MQ=59.13;MQ0=0;MQRankSum=0.216;QD=9.43;ReadPosRankSum=0.453;SNPEFF_AMINO_ACID_CHANGE=S138;SNPEFF_CODON_CHANGE=tcG/tcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_161167785_161168843;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADAMTS4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367995 GT:AD:DP:GQ:PL 0/1:31,17:48:99:483,0,877
1 161176137 rs4656993 A G 573.85 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.76;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NDUFS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475570 GT:AD:DP:GQ:PL 1/1:0,17:17:45.14:607,45,0
1 161179877 rs4656994 G A 559.32 PASS AB=0.553;AC=1;AF=0.50;AN=2;BaseQRankSum=0.481;DB;DP=47;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.99;MQ=59.51;MQ0=0;MQRankSum=-0.524;QD=11.9;ReadPosRankSum=0.374;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NDUFS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473321 GT:AD:DP:GQ:PL 0/1:26,21:47:99:589,0,755
1 161183516 rs1136207 C T 1072.74 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.747;DB;DP=78;Dels=0.0;FS=6.822;HRun=0;HaplotypeScore=0.0;MQ=59.7;MQ0=0;MQRankSum=0.586;QD=13.75;ReadPosRankSum=0.199;SNPEFF_AMINO_ACID_CHANGE=A430;SNPEFF_CODON_CHANGE=gcC/gcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_161183439_161183522;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NDUFS2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367993 GT:AD:DP:GQ:PL 0/1:39,39:78:99:1103,0,1090
1 161184059 rs10629771 C CTG 269.21 PASS AC=2;AF=1.00;AN=2;DB;DP=11;FS=0.0;HRun=0;HaplotypeScore=70.2356;IndelType=I;MQ=57.26;MQ0=0;QD=24.47;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NDUFS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467295 GT:AD:DP:GQ:PL 1/1:3,7:11:22.31:311,22,0
1 161184097 rs1136224 A G 152.75 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=0.198;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.24;MQ0=0;MQRankSum=0.198;QD=21.82;ReadPosRankSum=0.198;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NDUFS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467295 GT:AD:DP:GQ:PL 0/1:2,5:7:22.59:183,0,23
1 161185058 rs2070901 G T 668.68 PASS AB=0.488;AC=1;AF=0.50;AN=2;BaseQRankSum=1.434;DB;DP=43;Dels=0.0;FS=1.786;HRun=1;HaplotypeScore=0.8321;MQ=59.57;MQ0=0;MQRankSum=-0.88;QD=15.55;ReadPosRankSum=0.377;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NDUFS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367993 GT:AD:DP:GQ:PL 0/1:21,22:43:99:699,0,611
1 161187665 rs2070902 C T 381.61 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.27;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-2.045;QD=19.08;ReadPosRankSum=0.347;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=APOA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367990 GT:AD:DP:GQ:PL 0/1:8,12:20:99:412,0,254
1 161192511 rs5085 C G 249.45 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.295;DB;DP=15;Dels=0.0;FS=2.158;HRun=0;HaplotypeScore=0.0;MQ=58.45;MQ0=0;MQRankSum=-0.766;QD=16.63;ReadPosRankSum=0.53;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FCER1G;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289902 GT:AD:DP:GQ:PL 0/1:6,9:15:99:279,0,193
1 161192845 rs72170134 CCACACA C 451.18 PASS AC=2;AF=1.00;AN=2;DB;DP=33;FS=0.0;HRun=0;HaplotypeScore=225.1036;IndelType=D;MQ=46.85;MQ0=0;QD=13.67;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FCER1G;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289902 GT:AD:DP:GQ:PL 1/1:24,5:33:27.09:493,27,0
1 161196166 rs3813628 A C 32.99 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=53.95;MQ0=0;MQRankSum=0.727;QD=8.25;ReadPosRankSum=-0.727;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NR1I3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367979 GT:AD:DP:GQ:PL 0/1:1,3:4:31.62:63,0,32
1 161200487 rs4073054 C A 151.18 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.24;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NR1I3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491193 GT:AD:DP:GQ:PL 1/1:0,5:5:15.02:184,15,0
1 161200586 rs2307418 T G 250.20 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.984;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.11;MQ0=0;MQRankSum=0.301;QD=9.62;ReadPosRankSum=1.998;SNPEFF_AMINO_ACID_CHANGE=R283;SNPEFF_CODON_CHANGE=Agg/Cgg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_161200135_161200708;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NR1I3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000506209 GT:AD:DP:GQ:PL 0/1:14,12:26:99:280,0,474
1 161201350 rs11265567 G T 266.81 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.473;DB;DP=22;Dels=0.0;FS=3.424;HRun=0;HaplotypeScore=0.0;MQ=58.95;MQ0=0;MQRankSum=0.033;QD=12.13;ReadPosRankSum=0.56;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NR1I3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491193 GT:AD:DP:GQ:PL 0/1:12,10:22:99:297,0,435
1 161201352 rs11265568 G A 272.39 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=0.429;DB;DP=22;Dels=0.0;FS=3.424;HRun=0;HaplotypeScore=0.0;MQ=58.95;MQ0=0;MQRankSum=1.55;QD=12.38;ReadPosRankSum=0.692;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NR1I3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491193 GT:AD:DP:GQ:PL 0/1:12,10:22:99:302,0,422
1 161202605 rs2307424 G A 723.06 PASS AB=0.46;AC=1;AF=0.50;AN=2;BaseQRankSum=3.776;DB;DP=50;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=-0.311;QD=14.46;ReadPosRankSum=0.642;SNPEFF_AMINO_ACID_CHANGE=P105;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_161202597_161202736;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NR1I3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000515621 GT:AD:DP:GQ:PL 0/1:23,27:50:99:753,0,602
1 161276434 rs6674383 A G 540.24 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.01;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MPZ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336559 GT:AD:DP:GQ:PL 1/1:0,18:18:45.12:573,45,0
1 161479745 rs1801274 A G 576.94 PASS AB=0.596;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.903;DB;DP=57;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=59.85;MQ0=0;MQRankSum=-0.187;QD=10.12;ReadPosRankSum=0.317;SNPEFF_AMINO_ACID_CHANGE=H166R;SNPEFF_CODON_CHANGE=cAt/cGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_161479610_161479864;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FCGR2A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367972 GT:AD:DP:GQ:PL 0/1:34,23:57:99:607,0,1135
1 161487863 rs143182858 C T 597.08 MQFilter40 AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.296;DB;DP=87;Dels=0.0;FS=1.047;HRun=0;HaplotypeScore=0.8667;MQ=30.47;MQ0=14;MQRankSum=0.04;QD=6.86;ReadPosRankSum=-0.42;SNPEFF_AMINO_ACID_CHANGE=P28;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_161487765_161488380;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FCGR2A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000461298 GT:AD:DP:GQ:PL 0/1:49,38:87:99:627,0,792
1 161488017 rs150991486 T C 365.01 PASS AB=0.516;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.312;DB;DP=31;Dels=0.0;FS=6.463;HRun=0;HaplotypeScore=0.0;MQ=51.24;MQ0=0;MQRankSum=0.296;QD=11.77;ReadPosRankSum=0.613;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FCGR2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000537821 GT:AD:DP:GQ:PL 0/1:16,15:31:99:395,0,449
1 161495040 rs63749092 C T 174.43 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=1.954;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=48.75;MQ0=0;MQRankSum=-0.312;QD=9.69;ReadPosRankSum=-0.66;SNPEFF_AMINO_ACID_CHANGE=L174F;SNPEFF_CODON_CHANGE=Ctc/Ttc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_161494582_161496582;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HSPA6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000545155 GT:AD:DP:GQ:PL 0/1:10,8:18:99:204,0,151
1 161495477 rs72633678 A T 343.45 PASS AB=0.481;AC=1;AF=0.50;AN=2;BaseQRankSum=0.898;DB;DP=27;Dels=0.0;FS=17.975;HRun=0;HaplotypeScore=0.0;MQ=45.28;MQ0=0;MQRankSum=1.237;QD=12.72;ReadPosRankSum=1.092;SNPEFF_AMINO_ACID_CHANGE=T319;SNPEFF_CODON_CHANGE=acA/acT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_161494582_161496582;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HSPA6;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000545155 GT:AD:DP:GQ:PL 0/1:13,14:27:99:373,0,399
1 161495885 rs404508 T C 337.83 PASS AB=0.641;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.801;DB;DP=39;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9734;MQ=57.07;MQ0=0;MQRankSum=0.747;QD=8.66;ReadPosRankSum=-0.893;SNPEFF_AMINO_ACID_CHANGE=T455;SNPEFF_CODON_CHANGE=acT/acC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_161494582_161496582;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HSPA6;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000545155 GT:AD:DP:GQ:PL 0/1:25,14:39:99:368,0,888
1 161496134 rs753856 C G 58.85 PASS AB=0.733;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.065;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=50.11;MQ0=0;MQRankSum=-2.546;QD=3.92;ReadPosRankSum=-0.979;SNPEFF_AMINO_ACID_CHANGE=D538E;SNPEFF_CODON_CHANGE=gaC/gaG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_161494582_161496582;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HSPA6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000545155 GT:AD:DP:GQ:PL 0/1:11,4:15:88.85:89,0,342
1 161514542 rs396991 A C 366.63 MQFilter40 AB=0.439;AC=1;AF=0.50;AN=2;BaseQRankSum=0.838;DB;DP=41;Dels=0.0;FS=1.352;HRun=0;HaplotypeScore=0.0;MQ=39.68;MQ0=4;MQRankSum=-2.041;QD=8.94;ReadPosRankSum=2.072;SNPEFF_AMINO_ACID_CHANGE=F176V;SNPEFF_CODON_CHANGE=Ttt/Gtt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_161514491_161514748;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FCGR3A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367967 GT:AD:DP:GQ:PL 0/1:18,23:41:99:397,0,543
1 161518214 rs148181339 T C 269.98 MQFilter40;QDFilter2 AB=0.751;AC=1;AF=0.50;AN=2;BaseQRankSum=3.357;DB;DP=178;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9993;MQ=30.69;MQ0=32;MQRankSum=-3.362;QD=1.52;ReadPosRankSum=-1.031;SNPEFF_AMINO_ACID_CHANGE=I105V;SNPEFF_CODON_CHANGE=Atc/Gtc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_161518211_161518465;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FCGR3A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000442336 GT:AD:DP:GQ:PL 0/1:133,44:178:99:300,0,2925
1 161518336 rs77144485 C T 162.97 QDFilter2 AB=0.777;AC=1;AF=0.50;AN=2;BaseQRankSum=0.767;DB;DP=217;DS;Dels=0.0;FS=8.525;HRun=1;HaplotypeScore=2.3404;MQ=44.87;MQ0=25;MQRankSum=-5.781;QD=0.75;ReadPosRankSum=-0.94;SNPEFF_AMINO_ACID_CHANGE=S100N;SNPEFF_CODON_CHANGE=aGc/aAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_161518211_161518465;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FCGR3A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000443193 GT:AD:DP:GQ:PL 0/1:167,48:217:99:193,0,4670
1 161518908 rs138032965 C T 83.83 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=0.322;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=47.25;MQ0=0;MQRankSum=0.322;QD=10.48;ReadPosRankSum=0.322;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FCGR3A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367967 GT:AD:DP:GQ:PL 0/1:3,5:8:91.70:114,0,92
1 161559256 rs114945036 C T 53.42 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.55;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=52.54;MQ0=1;MQRankSum=0.0;QD=6.68;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FCGR2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367960 GT:AD:DP:GQ:PL 0/1:4,4:8:83.42:83,0,148
1 161559327 rs3933769 A G 197.24 PASS AB=0.593;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.558;DB;DP=28;Dels=0.0;FS=2.207;HRun=0;HaplotypeScore=0.0;MQ=55.65;MQ0=0;MQRankSum=-0.817;QD=7.04;ReadPosRankSum=1.976;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FCGR2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367960 GT:AD:DP:GQ:PL 0/1:16,11:28:99:227,0,566
1 161559571 rs138747765 C T 307.49 MQFilter40 AB=0.655;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.05;DB;DP=59;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.2428;MQ=23.16;MQ0=21;MQRankSum=-0.547;QD=5.21;ReadPosRankSum=-1.109;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FCGR2C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000502411 GT:AD:DP:GQ:PL 0/1:38,20:59:99:337,0,510
1 161561287 rs151302833 A G 143.67 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=24.19;MQ0=6;QD=10.26;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FCGR2C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465075 GT:AD:DP:GQ:PL 1/1:0,13:14:18.03:177,18,0
1 161561676 rs72700080 T C 91.51 MQFilter40 AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=37.05;MQ0=1;MQRankSum=-0.731;QD=15.25;ReadPosRankSum=0.731;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FCGR2C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465075 GT:AD:DP:GQ:PL 0/1:1,5:6:25.61:121,0,26
1 161561681 rs72700082 C T 92.02 MQFilter40 AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=37.05;MQ0=1;MQRankSum=-0.731;QD=15.34;ReadPosRankSum=0.731;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FCGR2C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465075 GT:AD:DP:GQ:PL 0/1:1,5:6:17.46:122,0,17
1 161561729 rs61801811 C T 50.62 MQFilter40 AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.422;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9997;MQ=29.93;MQ0=1;MQRankSum=0.248;QD=5.06;ReadPosRankSum=1.683;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FCGR2C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465075 GT:AD:DP:GQ:PL 0/1:6,4:10:80.61:81,0,176
1 161561734 rs1771555 G A 86.99 MQFilter40 AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.652;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9997;MQ=29.93;MQ0=1;MQRankSum=1.159;QD=8.7;ReadPosRankSum=1.881;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FCGR2C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465075 GT:AD:DP:GQ:PL 0/1:5,5:10:99:117,0,135
1 161565324 rs61801822 C T 1129.45 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=0.436;DB;DP=110;Dels=0.0;FS=1.764;HRun=4;HaplotypeScore=2.911;MQ=50.54;MQ0=3;MQRankSum=-5.26;QD=10.27;ReadPosRankSum=-2.109;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FCGR2C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465075 GT:AD:DP:GQ:PL 0/1:60,50:110:99:1159,0,1916
1 161565479 rs111504845 G A 776.33 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=0.623;DB;DP=49;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9157;MQ=54.46;MQ0=0;MQRankSum=-0.769;QD=15.84;ReadPosRankSum=1.247;SNPEFF_AMINO_ACID_CHANGE=L45;SNPEFF_CODON_CHANGE=ctG/ctA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_161565343_161565762;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FCGR2C;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000543859 GT:AD:DP:GQ:PL 0/1:21,28:49:99:806,0,716
1 161569419 rs430178 C G 263.53 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=18.6;MQ0=9;QD=10.98;SNPEFF_EFFECT=SPLICE_SITE_ACCEPTOR;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FCGR2C;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000466542 GT:AD:DP:GQ:PL 1/1:0,24:24:30.04:297,30,0
1 161576227 rs145679054 C G 114.16 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=11.88;MQ0=19;QD=4.23;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FCGR2C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467903 GT:AD:DP:GQ:PL 1/1:15,12:27:15.02:147,15,0
1 161577657 rs61802306 G A 240.65 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=2.758;DB;DP=14;Dels=0.0;FS=6.929;HRun=0;HaplotypeScore=0.0;MQ=52.18;MQ0=0;MQRankSum=0.495;QD=17.19;ReadPosRankSum=-0.071;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FCGR2C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467903 GT:AD:DP:GQ:PL 0/1:4,10:14:99:271,0,99
1 161577669 rs61802307 G A 226.73 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=48.78;MQ0=0;QD=20.61;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FCGR2C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467903 GT:AD:DP:GQ:PL 1/1:0,11:11:21.06:260,21,0
1 161594100 rs61803007 C T 127.48 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.533;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.07;MQ0=0;MQRankSum=1.256;QD=9.81;ReadPosRankSum=-1.67;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FCGR3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000533780 GT:AD:DP:GQ:PL 0/1:8,5:13:99:157,0,282
1 161594226 rs61803008 C T 1612.55 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.6988;MQ=42.74;MQ0=0;QD=25.6;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FCGR3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000533780 GT:AD:DP:GQ:PL 1/1:0,62:63:99:1646,135,0
1 161594246 rs61803009 G T 2405.20 PASS AC=2;AF=1.00;AN=2;DB;DP=84;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.6132;MQ=43.93;MQ0=0;QD=28.63;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FCGR3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000533780 GT:AD:DP:GQ:PL 1/1:0,84:84:99:2438,193,0
1 161594561 rs61803012 C G 212.70 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=40.83;MQ0=0;QD=26.59;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FCGR3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000533780 GT:AD:DP:GQ:PL 1/1:0,8:8:18.06:246,18,0
1 161596283 rs418215 G A 206.32 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=41.11;MQ0=1;QD=20.63;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FCGR3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000534489 GT:AD:DP:GQ:PL 1/1:0,10:10:21.05:239,21,0
1 161599693 rs76714703 T C 466.87 MQFilter40 AB=0.29;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.668;DB;DP=64;Dels=0.0;FS=8.923;HRun=0;HaplotypeScore=1.6208;MQ=19.83;MQ0=21;MQRankSum=-0.14;QD=7.29;ReadPosRankSum=-1.264;SNPEFF_AMINO_ACID_CHANGE=N101S;SNPEFF_CODON_CHANGE=aAc/aGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_161599568_161599825;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FCGR3B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000531221 GT:AD:DP:GQ:PL 0/1:18,44:64:99:497,0,190
1 161600345 rs145831350 C T 74.15 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=31.51;MQ0=0;QD=24.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FCGR2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367960 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:106,9,0
1 161600744 rs74127076 C T 73.40 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=0.876;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=54.33;MQ0=0;MQRankSum=-0.729;QD=8.16;ReadPosRankSum=1.652;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FCGR2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367960 GT:AD:DP:GQ:PL 0/1:5,4:9:99:103,0,144
1 161600787 rs3883928 G C 540.33 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=40.04;MQ0=2;QD=28.44;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FCGR2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367960 GT:AD:DP:GQ:PL 1/1:0,19:19:48.13:573,48,0
1 161600792 rs76732376 A C 322.58 MQFilter40 AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=0.307;DB;DP=21;Dels=0.0;FS=5.006;HRun=0;HaplotypeScore=0.0;MQ=39.4;MQ0=2;MQRankSum=-1.973;QD=15.36;ReadPosRankSum=-1.184;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FCGR2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367960 GT:AD:DP:GQ:PL 0/1:6,15:21:99:353,0,181
1 161600832 rs3883934 G T 443.96 PASS AB=0.605;AC=1;AF=0.50;AN=2;BaseQRankSum=0.128;DB;DP=38;Dels=0.0;FS=7.782;HRun=0;HaplotypeScore=0.0;MQ=50.44;MQ0=2;MQRankSum=2.471;QD=11.68;ReadPosRankSum=-1.059;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FCGR2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367960 GT:AD:DP:GQ:PL 0/1:23,15:38:99:474,0,646
1 161600995 rs34085961 C T 1199.95 PASS AB=0.543;AC=1;AF=0.50;AN=2;BaseQRankSum=3.287;DB;DP=94;Dels=0.0;FS=4.402;HRun=1;HaplotypeScore=1.367;MQ=57.46;MQ0=0;MQRankSum=-1.522;QD=12.77;ReadPosRankSum=-0.401;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FCGR2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367960 GT:AD:DP:GQ:PL 0/1:51,43:94:99:1230,0,1497
1 161601118 rs61803026 G C 562.63 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.42;MQ0=0;QD=31.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FCGR2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367960 GT:AD:DP:GQ:PL 1/1:0,18:18:48.13:596,48,0
1 161601133 rs61803027 T C 384.86 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=55.86;MQ0=0;QD=34.99;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FCGR2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367960 GT:AD:DP:GQ:PL 1/1:0,11:11:33.10:418,33,0
1 161601173 rs34322334 A T 58.25 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9958;MQ=50.44;MQ0=0;MQRankSum=-0.358;QD=11.65;ReadPosRankSum=-1.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FCGR2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367960 GT:AD:DP:GQ:PL 0/1:2,3:5:67.95:88,0,68
1 161601231 rs35293629 A G 44.44 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=14.81;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FCGR2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367960 GT:AD:DP:GQ:PL 0/1:1,2:3:28.77:74,0,29
1 161633527 rs138450690 T C 41.05 MQFilter40 AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.727;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=18.51;MQ0=3;MQRankSum=0.727;QD=5.13;ReadPosRankSum=-0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FCGR2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236937 GT:AD:DP:GQ:PL 0/1:3,5:8:15.65:71,0,16
1 161642774 . T G 38.28 MQFilter40;QDFilter2 AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.768;DP=22;Dels=0.0;FS=26.946;HRun=2;HaplotypeScore=0.0;MQ=39.05;MQ0=3;MQRankSum=-0.919;QD=1.74;ReadPosRankSum=0.071;SNPEFF_AMINO_ACID_CHANGE=V127G;SNPEFF_CODON_CHANGE=gTg/gGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_161642765_161643019;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FCGR2B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367960 GT:AD:DP:GQ:PL 0/1:10,12:22:68.28:68,0,232
1 161644976 rs1674758 C A 62.44 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=42.41;MQ0=0;MQRankSum=-1.231;QD=12.49;ReadPosRankSum=0.358;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FCGR2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000428605 GT:AD:DP:GQ:PL 0/1:2,3:5:66.92:92,0,67
1 161676904 rs1340977 T C 76.05 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=1.754;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.55;QD=10.86;ReadPosRankSum=1.754;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FCRLA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294796 GT:AD:DP:GQ:PL 0/1:4,3:7:99:106,0,144
1 161676970 rs1340978 A G 340.26 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.033;DB;DP=23;Dels=0.0;FS=2.262;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.363;QD=14.79;ReadPosRankSum=0.429;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FCRLA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294796 GT:AD:DP:GQ:PL 0/1:10,12:23:99:370,0,355
1 161680413 rs112039702 GA G 199.80 PASS AB=0.717;AC=1;AF=0.50;AN=2;BaseQRankSum=3.324;DB;DP=33;FS=0.0;HRun=11;HaplotypeScore=155.1563;IndelType=D;MQ=60.29;MQ0=0;MQRankSum=-1.383;QD=6.05;ReadPosRankSum=-0.655;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FCRLA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236938 GT:AD:DP:GQ:PL 0/1:20,13:33:99:239,0,366
1 161680432 rs17405152 A G 513.40 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=1.356;DB;DP=33;Dels=0.0;FS=3.387;HRun=1;HaplotypeScore=0.7887;MQ=59.63;MQ0=0;MQRankSum=-1.609;QD=15.56;ReadPosRankSum=0.886;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FCRLA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236938 GT:AD:DP:GQ:PL 0/1:15,18:33:99:543,0,495
1 161680518 rs61801161 T A 723.49 PASS AB=0.589;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.41;DB;DP=73;Dels=0.0;FS=0.957;HRun=0;HaplotypeScore=0.9578;MQ=60.0;MQ0=0;MQRankSum=0.548;QD=9.91;ReadPosRankSum=-0.024;SNPEFF_AMINO_ACID_CHANGE=F31L;SNPEFF_CODON_CHANGE=ttT/ttA;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_161680505_161680522;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FCRLA;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000540926 GT:AD:DP:GQ:PL 0/1:43,30:73:99:753,0,1176
1 161680786 rs12043179 T C 279.06 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.928;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9832;MQ=60.0;MQ0=0;MQRankSum=-0.265;QD=13.95;ReadPosRankSum=-0.491;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FCRLA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236938 GT:AD:DP:GQ:PL 0/1:10,10:20:99:309,0,364
1 161680791 rs12043181 T C 284.07 PASS AB=0.476;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.176;DB;DP=21;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.951;QD=13.53;ReadPosRankSum=-0.951;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FCRLA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236938 GT:AD:DP:GQ:PL 0/1:10,11:21:99:314,0,349
1 161681661 rs1105238 C G 2154.59 PASS AB=0.461;AC=1;AF=0.50;AN=2;BaseQRankSum=-6.953;DB;DP=154;Dels=0.0;FS=5.309;HRun=0;HaplotypeScore=2.7267;MQ=59.1;MQ0=0;MQRankSum=-0.928;QD=13.9;ReadPosRankSum=-1.273;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FCRLA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465403 GT:AD:DP:GQ:PL 0/1:71,83:154:99:2185,0,2323
1 161681780 rs2275603 A G 1918.95 PASS AB=0.624;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.077;DB;DP=197;Dels=0.0;FS=0.585;HRun=1;HaplotypeScore=3.1726;MQ=59.06;MQ0=0;MQRankSum=-1.626;QD=9.74;ReadPosRankSum=0.724;SNPEFF_AMINO_ACID_CHANGE=S114G;SNPEFF_CODON_CHANGE=Agc/Ggc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_161681724_161682008;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FCRLA;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000546024 GT:AD:DP:GQ:PL 0/1:123,74:197:99:1949,0,3813
1 161681848 rs4301614 C T 1878.68 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=2.72;DB;DP=119;Dels=0.0;FS=2.846;HRun=2;HaplotypeScore=2.7569;MQ=58.63;MQ0=0;MQRankSum=0.926;QD=15.79;ReadPosRankSum=-0.137;SNPEFF_AMINO_ACID_CHANGE=S119;SNPEFF_CODON_CHANGE=tcC/tcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_161681724_161682008;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FCRLA;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000309691 GT:AD:DP:GQ:PL 0/1:51,68:119:99:1909,0,1514
1 161693003 rs4657093 T C 291.38 PASS AB=0.438;AC=1;AF=0.50;AN=2;BaseQRankSum=0.212;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.318;QD=18.21;ReadPosRankSum=0.953;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FCRLB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336830 GT:AD:DP:GQ:PL 0/1:7,9:16:99:321,0,230
1 161695639 rs7520519 G T 478.69 PASS AB=0.419;AC=1;AF=0.50;AN=2;BaseQRankSum=1.841;DB;DP=31;Dels=0.0;FS=9.395;HRun=0;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=0.419;QD=15.44;ReadPosRankSum=0.0;SNPEFF_AMINO_ACID_CHANGE=A105;SNPEFF_CODON_CHANGE=gcG/gcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_161695611_161695877;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FCRLB;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367944 GT:AD:DP:GQ:PL 0/1:13,18:31:99:509,0,351
1 161697000 . T C 173.74 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.378;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.6988;MQ=58.2;MQ0=0;MQRankSum=0.467;QD=13.36;ReadPosRankSum=-0.779;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FCRLB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336830 GT:AD:DP:GQ:PL 0/1:6,6:13:99:204,0,190
1 161721351 rs7540096 A G 528.49 PASS AB=0.452;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.918;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9789;MQ=61.04;MQ0=0;MQRankSum=-1.727;QD=17.05;ReadPosRankSum=0.06;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=DUSP12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367943 GT:AD:DP:GQ:PL 0/1:14,17:31:99:558,0,501
1 161721402 . G GT 662.46 PASS AB=0.724;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.707;DP=84;FS=1.595;HRun=11;HaplotypeScore=296.5071;IndelType=I;MQ=60.34;MQ0=0;MQRankSum=-0.586;QD=7.89;ReadPosRankSum=-1.296;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=DUSP12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367943 GT:AD:DP:GQ:PL 0/1:51,30:84:99:701,0,771
1 161721707 rs1063178 C T 859.29 PASS AB=0.475;AC=1;AF=0.50;AN=2;BaseQRankSum=3.801;DB;DP=61;Dels=0.0;FS=7.248;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.015;QD=14.09;ReadPosRankSum=1.623;SNPEFF_AMINO_ACID_CHANGE=Y170;SNPEFF_CODON_CHANGE=taC/taT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_161721656_161721774;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=DUSP12;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367943 GT:AD:DP:GQ:PL 0/1:29,32:61:99:889,0,799
1 161722272 rs10917852 C A 1754.94 PASS AB=0.434;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.375;DB;DP=99;Dels=0.0;FS=3.392;HRun=0;HaplotypeScore=0.7887;MQ=59.53;MQ0=0;MQRankSum=1.069;QD=17.73;ReadPosRankSum=0.194;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=DUSP12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000490591 GT:AD:DP:GQ:PL 0/1:43,56:99:99:1785,0,1257
1 161722779 rs35439833 C CAAA 1128.25 PASS AC=2;AF=1.00;AN=2;DB;DP=25;FS=0.0;HRun=10;HaplotypeScore=128.6383;IndelType=I;MQ=48.78;MQ0=0;QD=45.13;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=DUSP12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000490591 GT:AD:DP:GQ:PL 1/1:8,15:25:69.17:1170,69,0
1 161736035 rs2298019 A G 276.18 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.52;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATF6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367942 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:309,24,0
1 161822959 rs2340717 C T 446.86 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.24;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATF6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367942 GT:AD:DP:GQ:PL 1/1:0,12:12:36.12:480,36,0
1 161823011 rs2257107 T A 278.60 PASS AB=0.478;AC=1;AF=0.50;AN=2;BaseQRankSum=1.693;DB;DP=23;Dels=0.0;FS=4.993;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.585;QD=12.11;ReadPosRankSum=1.077;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATF6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367942 GT:AD:DP:GQ:PL 0/1:11,12:23:99:309,0,395
1 161823197 rs112400651 G GT 152.76 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.221;DB;DP=8;FS=0.0;HRun=2;HaplotypeScore=19.15;IndelType=I;MQ=61.34;MQ0=0;MQRankSum=-0.322;QD=19.1;ReadPosRankSum=1.517;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATF6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367942 GT:AD:DP:GQ:PL 0/1:3,5:8:85.02:192,0,85
1 161832834 rs2340719 G A 326.29 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.63;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATF6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000476437 GT:AD:DP:GQ:PL 1/1:0,10:10:27.09:359,27,0
1 161833233 rs3767632 G A 35.86 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=8.96;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATF6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000476437 GT:AD:DP:GQ:PL 0/1:2,2:4:65.85:66,0,75
1 161928327 rs9482 A G 758.29 PASS AB=0.594;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.882;DB;DP=69;Dels=0.0;FS=0.935;HRun=1;HaplotypeScore=0.7887;MQ=59.67;MQ0=0;MQRankSum=-0.214;QD=10.99;ReadPosRankSum=-0.092;SNPEFF_AMINO_ACID_CHANGE=S632;SNPEFF_CODON_CHANGE=tcA/tcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_161928236_161933860;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATF6;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367942 GT:AD:DP:GQ:PL 0/1:41,28:69:99:788,0,1289
1 161928568 rs13401 G A 87.79 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.467;DB;DP=12;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.259;QD=7.32;ReadPosRankSum=-0.583;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATF6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367942 GT:AD:DP:GQ:PL 0/1:6,6:12:99:118,0,212
1 161954365 rs9427066 C G 91.96 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.99;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=OLFML2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294794 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:124,9,0
1 161954385 rs56084426 A G 42.73 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.727;QD=10.68;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=OLFML2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294794 GT:AD:DP:GQ:PL 0/1:1,3:4:32.20:73,0,32
1 161954448 rs12726227 C T 44.94 PASS AB=0.8;AC=1;AF=0.50;AN=2;BaseQRankSum=0.217;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.45;MQ0=0;MQRankSum=-0.505;QD=3.0;ReadPosRankSum=0.361;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=OLFML2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294794 GT:AD:DP:GQ:PL 0/1:12,3:15:74.93:75,0,371
1 161967681 rs2499836 A G 1606.79 PASS AB=0.527;AC=1;AF=0.50;AN=2;BaseQRankSum=1.292;DB;DP=132;Dels=0.0;FS=2.795;HRun=0;HaplotypeScore=3.3178;MQ=59.65;MQ0=0;MQRankSum=0.298;QD=12.17;ReadPosRankSum=-0.122;SNPEFF_AMINO_ACID_CHANGE=W470R;SNPEFF_CODON_CHANGE=Tgg/Cgg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_161967615_161968139;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=OLFML2B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000294794 GT:AD:DP:GQ:PL 0/1:68,61:132:99:1637,0,2126
1 161976234 rs12022536 A G 1216.72 PASS AB=0.436;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.29;DB;DP=78;Dels=0.0;FS=6.253;HRun=0;HaplotypeScore=2.4317;MQ=59.39;MQ0=0;MQRankSum=0.444;QD=15.6;ReadPosRankSum=0.883;SNPEFF_AMINO_ACID_CHANGE=N192;SNPEFF_CODON_CHANGE=aaT/aaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_161976087_161976263;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=OLFML2B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000294794 GT:AD:DP:GQ:PL 0/1:34,44:78:99:1247,0,945
1 161976272 rs34863451 G GA 607.38 PASS AB=0.663;AC=1;AF=0.50;AN=2;BaseQRankSum=2.535;DB;DP=53;FS=3.536;HRun=10;HaplotypeScore=247.7918;IndelType=I;MQ=59.72;MQ0=0;MQRankSum=-0.355;QD=11.46;ReadPosRankSum=-1.066;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=OLFML2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294794 GT:AD:DP:GQ:PL 0/1:26,27:53:99:646,0,328
1 162302635 rs347306 T C 38.48 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.231;QD=7.7;ReadPosRankSum=1.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOS1AP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361897 GT:AD:DP:GQ:PL 0/1:3,2:5:68.47:68,0,111
1 162302689 rs347307 C T 137.13 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.453;DB;DP=10;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.851;QD=13.71;ReadPosRankSum=1.098;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOS1AP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361897 GT:AD:DP:GQ:PL 0/1:5,5:10:99:167,0,180
1 162313518 rs3751285 A G 382.71 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.308;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.103;QD=14.72;ReadPosRankSum=-0.051;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOS1AP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361897 GT:AD:DP:GQ:PL 0/1:13,13:26:99:413,0,474
1 162313597 rs347278 T C 2587.39 PASS AC=2;AF=1.00;AN=2;DB;DP=82;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=2.2337;MQ=59.67;MQ0=0;QD=31.17;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOS1AP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361897 GT:AD:DP:GQ:PL 1/1:0,82:82:99:2620,196,0
1 162313735 rs3751284 C T 561.06 PASS AB=0.535;AC=1;AF=0.50;AN=2;BaseQRankSum=2.739;DB;DP=43;Dels=0.0;FS=1.645;HRun=0;HaplotypeScore=0.0;MQ=59.35;MQ0=0;MQRankSum=0.134;QD=13.05;ReadPosRankSum=0.304;SNPEFF_AMINO_ACID_CHANGE=S183;SNPEFF_CODON_CHANGE=agC/agT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_162313625_162313766;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOS1AP;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000530878 GT:AD:DP:GQ:PL 0/1:23,20:43:99:591,0,626
1 162335424 rs1964052 T C 496.60 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.47;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOS1AP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361897 GT:AD:DP:GQ:PL 1/1:0,14:14:42.13:530,42,0
1 162335500 rs348623 T C 31.68 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=55.21;MQ0=0;QD=6.34;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOS1AP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361897 GT:AD:DP:GQ:PL 1/1:0,5:5:6.01:63,6,0
1 162343774 rs7512126 A G 1371.25 PASS AB=0.512;AC=1;AF=0.50;AN=2;BaseQRankSum=-7.267;DB;DP=123;Dels=0.0;FS=9.32;HRun=1;HaplotypeScore=2.5367;MQ=59.66;MQ0=0;MQRankSum=-1.219;QD=11.15;ReadPosRankSum=-0.869;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf111;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000493255 GT:AD:DP:GQ:PL 0/1:63,60:123:99:1401,0,1933
1 162344102 rs2282397 C T 1632.79 PASS AB=0.481;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.115;DB;DP=108;Dels=0.0;FS=4.806;HRun=0;HaplotypeScore=1.4679;MQ=59.57;MQ0=0;MQRankSum=-0.972;QD=15.12;ReadPosRankSum=1.678;SNPEFF_AMINO_ACID_CHANGE=R174;SNPEFF_CODON_CHANGE=agG/agA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_162343515_162344406;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf111;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367935 GT:AD:DP:GQ:PL 0/1:52,56:108:99:1663,0,1565
1 162344390 rs164159 A G 1950.45 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.58;MQ0=0;QD=35.46;SNPEFF_AMINO_ACID_CHANGE=D78;SNPEFF_CODON_CHANGE=gaT/gaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_162343515_162344406;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf111;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367935 GT:AD:DP:GQ:PL 1/1:0,55:55:99:1983,147,0
1 162345091 rs164181 G A 1567.33 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.43;MQ0=0;QD=31.99;SNPEFF_AMINO_ACID_CHANGE=A69V;SNPEFF_CODON_CHANGE=gCg/gTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_162345080_162345193;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf111;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367935 GT:AD:DP:GQ:PL 1/1:0,49:49:99:1600,120,0
1 162345218 rs190242016 G A 195 PASS AB=0.611;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.268;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.71;MQ0=0;MQRankSum=1.721;QD=10.83;ReadPosRankSum=-1.449;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOS1AP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361897 GT:AD:DP:GQ:PL 0/1:11,7:18:99:225,0,401
1 162352819 rs1123005 A G 59.55 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=0.597;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9832;MQ=60.0;MQ0=0;MQRankSum=-1.398;QD=5.41;ReadPosRankSum=0.678;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RP11-565P22.6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000431696 GT:AD:DP:GQ:PL 0/1:7,4:11:89.54:90,0,225
1 162367235 rs164124 G A 271.32 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SH2D1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359567 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:304,24,0
1 162369140 rs348625 G C 50.63 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.32;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SH2D1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000493550 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
1 162372718 rs3121196 G A 272.60 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=54.65;MQ0=0;QD=30.29;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SH2D1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359567 GT:AD:DP:GQ:PL 1/1:0,9:9:24.08:306,24,0
1 162470164 rs10616397 AGGG A 328.65 PASS AC=2;AF=1.00;AN=2;DB;DP=7;FS=0.0;HRun=4;HaplotypeScore=52.2562;IndelType=D;MQ=54.75;MQ0=0;QD=46.95;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UHMK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000489294 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:371,21,0
1 162470191 rs2342714 C T 198.21 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=57.94;MQ0=0;QD=33.03;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UHMK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000489294 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:231,18,0
1 162470503 rs905718 G A 50.52 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UHMK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000489294 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
1 162470961 rs35331308 A AT 197.62 PASS AC=2;AF=1.00;AN=2;DB;DP=9;FS=0.0;HRun=11;HaplotypeScore=18.483;IndelType=I;MQ=63.51;MQ0=0;QD=21.96;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UHMK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000489294 GT:AD:DP:GQ:PL 1/1:1,8:9:24.04:240,24,0
1 162722846 rs1632311 C G 1357.89 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.38;MQ0=0;QD=36.7;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DDR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367921 GT:AD:DP:GQ:PL 1/1:0,37:37:99:1391,108,0
1 162725655 rs1115570 A C 117.84 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.46;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DDR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000415555 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:150,12,0
1 162731404 rs2684867 C T 134.55 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DDR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367921 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:167,12,0
1 162736734 rs1780002 G C 135.02 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.76;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DDR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367921 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:168,12,0
1 162736821 rs36156581 G GA 387.43 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.735;DB;DP=20;FS=0.0;HRun=11;HaplotypeScore=334.2879;IndelType=I;MQ=33.42;MQ0=0;MQRankSum=0.0;QD=19.37;ReadPosRankSum=1.519;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DDR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367921 GT:AD:DP:GQ:PL 1/1:5,15:20:24.86:429,25,0
1 162736851 rs5778292 G GAAAA 2722.32 PASS AC=2;AF=1.00;AN=2;DB;DP=41;FS=0.0;HRun=4;HaplotypeScore=507.1613;IndelType=I;MQ=38.8;MQ0=0;QD=66.4;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DDR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367921 GT:AD:DP:GQ:PL 1/1:2,32:41:99:2764,120,0
1 162740327 rs1780003 T C 1209.36 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.41;MQ0=0;QD=31.01;SNPEFF_AMINO_ACID_CHANGE=V120A;SNPEFF_CODON_CHANGE=gTg/gCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_162740092_162740526;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DDR2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000458105 GT:AD:DP:GQ:PL 1/1:0,39:39:99:1242,99,0
1 162742180 rs1704762 T C 48.08 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.04;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DDR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000458105 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
1 162743418 rs1355287 G T 1601.12 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.39;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DDR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000458105 GT:AD:DP:GQ:PL 1/1:0,51:51:99:1634,120,0
1 162748588 rs907074 C A 573.40 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.73;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DDR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367921 GT:AD:DP:GQ:PL 1/1:0,17:17:48.14:606,48,0
1 162749761 rs1510315 T C 844.77 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.2;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DDR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367921 GT:AD:DP:GQ:PL 1/1:0,24:24:66.20:878,66,0
1 162760551 rs1704754 C T 172.90 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=37.27;MQ0=0;QD=28.82;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HSD17B7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463037 GT:AD:DP:GQ:PL 1/1:0,6:6:18.05:206,18,0
1 162760554 rs71519246 T C 165.74 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=37.27;MQ0=0;QD=27.62;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HSD17B7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463037 GT:AD:DP:GQ:PL 1/1:0,6:6:18.04:199,18,0
1 162765475 rs2684884 G C 1244.34 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=82;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=24.96;MQ0=18;QD=15.17;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HSD17B7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367915 GT:AD:DP:GQ:PL 1/1:0,82:82:99:1277,111,0
1 162766476 rs1780019 C T 2509 PASS AC=2;AF=1.00;AN=2;DB;DP=77;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.9665;MQ=59.46;MQ0=0;QD=32.58;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HSD17B7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367915 GT:AD:DP:GQ:PL 1/1:0,77:77:99:2542,196,0
1 162773514 rs10917598 G C 78.59 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.537;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=13.1;ReadPosRankSum=0.406;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HSD17B7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463037 GT:AD:DP:GQ:PL 0/1:3,3:6:99:109,0,100
1 162774236 rs77482353 A G 199.12 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=0.312;DB;DP=15;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.8321;MQ=51.73;MQ0=0;MQRankSum=-2.074;QD=13.27;ReadPosRankSum=0.101;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HSD17B7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463037 GT:AD:DP:GQ:PL 0/1:7,8:15:99:229,0,208
1 162775267 rs12563263 C T 473.54 PASS AB=0.587;AC=1;AF=0.50;AN=2;BaseQRankSum=0.616;DB;DP=46;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7046;MQ=44.73;MQ0=2;MQRankSum=0.213;QD=10.29;ReadPosRankSum=0.024;SNPEFF_AMINO_ACID_CHANGE=Y114;SNPEFF_CODON_CHANGE=taC/taT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_162775184_162775282;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HSD17B7;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000413934 GT:AD:DP:GQ:PL 0/1:27,19:46:99:504,0,622
1 162822771 rs2684878 A C 1125.27 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.2;MQ0=0;QD=38.8;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C1orf110;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367910 GT:AD:DP:GQ:PL 1/1:0,29:29:84.28:1158,84,0
1 163122528 rs1354939 G C 1480 PASS AB=0.472;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.566;DB;DP=89;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.9963;MQ=60.0;MQ0=0;MQRankSum=1.316;QD=16.63;ReadPosRankSum=-0.806;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RGS5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313961 GT:AD:DP:GQ:PL 0/1:42,47:89:99:1510,0,1487
1 163137907 rs16850057 T A 218.54 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.466;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.222;QD=10.93;ReadPosRankSum=-0.4;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RGS5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313961 GT:AD:DP:GQ:PL 0/1:12,8:20:99:249,0,346
1 163142537 rs10917691 G A 287.60 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.95;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RGS5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313961 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:321,24,0
1 163142555 rs12035879 G A 175.72 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RGS5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313961 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:208,15,0
1 163187232 rs56177331 T C 161.28 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.555;DB;DP=15;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.15;QD=10.75;ReadPosRankSum=-2.04;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RGS5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367903 GT:AD:DP:GQ:PL 0/1:7,8:15:99:191,0,257
1 163187263 rs2814368 G A 361.43 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.46;DB;DP=22;Dels=0.0;FS=9.7;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.985;QD=16.43;ReadPosRankSum=2.101;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RGS5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367903 GT:AD:DP:GQ:PL 0/1:11,11:22:99:391,0,315
1 163295678 rs6660538 A C 220.16 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.524;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.068;QD=15.73;ReadPosRankSum=-2.84;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NUF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271452 GT:AD:DP:GQ:PL 0/1:7,7:14:99:250,0,231
1 163297896 rs41272017 G A 93.37 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=1.769;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.597;QD=8.49;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NUF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271452 GT:AD:DP:GQ:PL 0/1:7,4:11:99:123,0,249
1 163307944 rs2175015 T C 421.54 PASS AB=0.44;AC=1;AF=0.50;AN=2;BaseQRankSum=0.575;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.246;QD=16.86;ReadPosRankSum=-0.411;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NUF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000450453 GT:AD:DP:GQ:PL 0/1:11,14:25:99:452,0,362
1 163309219 rs1509022 A T 298.50 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.121;DB;DP=33;Dels=0.0;FS=1.657;HRun=0;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=-0.409;QD=9.05;ReadPosRankSum=-0.915;SNPEFF_AMINO_ACID_CHANGE=G186;SNPEFF_CODON_CHANGE=ggA/ggT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_163309171_163309267;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NUF2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000271452 GT:AD:DP:GQ:PL 0/1:21,12:33:99:328,0,622
1 163309302 rs2999852 C T 377.79 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.78;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NUF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000442820 GT:AD:DP:GQ:PL 1/1:0,10:10:30.10:411,30,0
1 163310020 rs78023909 G A 131.63 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.133;DB;DP=14;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.533;QD=9.4;ReadPosRankSum=1.067;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NUF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000442820 GT:AD:DP:GQ:PL 0/1:9,5:14:99:162,0,325
1 163315350 rs10753611 G C 66.31 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=1.92;DB;DP=8;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.322;QD=8.29;ReadPosRankSum=0.684;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NUF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000527120 GT:AD:DP:GQ:PL 0/1:5,3:8:96.30:96,0,130
1 163317427 rs2292271 T C 88.02 PASS AB=0.692;AC=1;AF=0.50;AN=2;BaseQRankSum=2.546;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.077;QD=6.77;ReadPosRankSum=0.077;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NUF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000497990 GT:AD:DP:GQ:PL 0/1:9,4:13:99:118,0,284
1 163318934 rs17358956 A C 494.57 PASS AB=0.273;AC=1;AF=0.50;AN=2;BaseQRankSum=0.848;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9578;MQ=58.95;MQ0=0;MQRankSum=-0.922;QD=22.48;ReadPosRankSum=-0.184;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NUF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000497990 GT:AD:DP:GQ:PL 0/1:6,16:22:99:525,0,180
1 163324929 rs34412706 C CT 234.44 PASS AC=2;AF=1.00;AN=2;DB;DP=7;FS=0.0;HRun=5;HaplotypeScore=12.6951;IndelType=I;MQ=60.0;MQ0=0;QD=33.49;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NUF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271452 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:276,21,0
1 164326453 rs10917988 G C 633.33 PASS AB=0.472;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.363;DB;DP=36;Dels=0.0;FS=10.48;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.634;QD=17.59;ReadPosRankSum=0.507;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=HMGB3P6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000444896 GT:AD:DP:GQ:PL 0/1:17,19:36:99:663,0,538
1 164610486 rs2039871 A T 846.02 PASS AB=0.532;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.986;DB;DP=62;Dels=0.0;FS=7.64;HRun=0;HaplotypeScore=0.9997;MQ=59.33;MQ0=0;MQRankSum=-0.498;QD=13.65;ReadPosRankSum=1.134;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PBX1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340699 GT:AD:DP:GQ:PL 0/1:33,29:62:99:876,0,1033
1 164789444 rs1538488 A G 1545.60 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.4105;MQ=58.95;MQ0=0;QD=35.13;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PBX1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367897 GT:AD:DP:GQ:PL 1/1:0,44:44:99:1579,117,0
1 164953077 rs17398855 C T 204.68 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.11;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AL390119.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000390797 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:238,18,0
1 164953332 rs17394768 C T 1299 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.68;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AL390119.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000390797 GT:AD:DP:GQ:PL 1/1:0,41:41:99:1332,102,0
1 164953477 rs17394775 T C 42.43 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=14.14;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AL390119.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000390797 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:74,6,0
1 165173216 rs1354509 A G 2086.72 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.71;MQ0=0;QD=32.6;SNPEFF_AMINO_ACID_CHANGE=D350;SNPEFF_CODON_CHANGE=gaT/gaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_165171110_165173277;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LMX1A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000294816 GT:AD:DP:GQ:PL 1/1:0,64:64:99:2120,156,0
1 165174791 rs12128508 C A 41.69 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.84;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LMX1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294816 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:73,6,0
1 165175374 rs4656435 G A 180.24 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.825;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.87;MQ0=0;MQRankSum=0.717;QD=16.39;ReadPosRankSum=0.466;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LMX1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294816 GT:AD:DP:GQ:PL 0/1:5,6:11:99:210,0,165
1 165177170 rs17403138 T C 42.27 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=14.09;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LMX1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294816 GT:AD:DP:GQ:PL 0/1:1,2:3:33.98:72,0,34
1 165180089 rs1532815 T A 420.68 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.24;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LMX1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294816 GT:AD:DP:GQ:PL 1/1:0,11:11:33.11:454,33,0
1 165218679 rs9970062 C T 532.65 PASS AB=0.475;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.719;DB;DP=40;Dels=0.0;FS=2.974;HRun=0;HaplotypeScore=0.9997;MQ=60.0;MQ0=0;MQRankSum=-0.662;QD=13.32;ReadPosRankSum=-0.239;SNPEFF_AMINO_ACID_CHANGE=L154;SNPEFF_CODON_CHANGE=ctG/ctA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_165218645_165218877;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LMX1A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000294816 GT:AD:DP:GQ:PL 0/1:19,21:40:99:563,0,550
1 165370757 rs283690 G A 123.20 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.8;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RXRG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359842 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:156,12,0
1 165375895 rs283697 A C 111.69 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.34;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RXRG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470566 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:144,12,0
1 165376043 rs283696 T C 1428.40 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.98;MQ0=0;QD=32.46;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RXRG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470566 GT:AD:DP:GQ:PL 1/1:0,44:44:99:1461,111,0
1 165377389 rs283692 T C 851.92 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.03;MQ0=0;QD=35.5;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RXRG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470566 GT:AD:DP:GQ:PL 1/1:0,24:24:66.21:885,66,0
1 165380027 rs185905 C T 486.10 PASS AB=0.433;AC=1;AF=0.50;AN=2;BaseQRankSum=1.339;DB;DP=30;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=-0.628;QD=16.2;ReadPosRankSum=0.167;SNPEFF_AMINO_ACID_CHANGE=K275;SNPEFF_CODON_CHANGE=aaG/aaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_165379939_165380068;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RXRG;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000359842 GT:AD:DP:GQ:PL 0/1:13,17:30:99:516,0,434
1 165386650 rs190800 G T 47.39 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.69;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RXRG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359842 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
1 165388948 rs157869 G A 469.84 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RXRG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359842 GT:AD:DP:GQ:PL 1/1:0,13:13:36.12:503,36,0
1 165389285 rs157870 C G 956.03 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.8899;MQ=60.0;MQ0=0;QD=32.97;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RXRG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359842 GT:AD:DP:GQ:PL 1/1:0,29:29:75.25:989,75,0
1 165398115 rs113471 T C 290.78 PASS AB=0.586;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.882;DB;DP=29;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.041;QD=10.03;ReadPosRankSum=0.465;SNPEFF_AMINO_ACID_CHANGE=T46;SNPEFF_CODON_CHANGE=acA/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_165397956_165398203;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RXRG;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000359842 GT:AD:DP:GQ:PL 0/1:17,12:29:99:321,0,549
1 165513439 rs285446 A C 565.38 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=54.32;MQ0=0;QD=33.26;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_1_165513244_165514155;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRC52;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294818 GT:AD:DP:GQ:PL 1/1:0,17:17:48.13:598,48,0
1 165513456 rs285445 A T 862 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=50.53;MQ0=0;QD=29.72;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_1_165513244_165514155;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRC52;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294818 GT:AD:DP:GQ:PL 1/1:0,29:29:72.20:895,72,0
1 165513463 rs285444 C G 665.59 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=52.06;MQ0=0;QD=21.47;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_1_165513244_165514155;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRC52;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294818 GT:AD:DP:GQ:PL 1/1:0,31:31:63.13:699,63,0
1 165513471 . G A 399.02 PASS AB=0.486;AC=1;AF=0.50;AN=2;BaseQRankSum=1.141;DP=37;Dels=0.0;FS=1.817;HRun=1;HaplotypeScore=0.0;MQ=52.72;MQ0=0;MQRankSum=-2.282;QD=10.78;ReadPosRankSum=-2.028;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_1_165513244_165514155;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRC52;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294818 GT:AD:DP:GQ:PL 0/1:18,19:37:99:429,0,465
1 165601365 rs4147596 T C 311.83 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.18;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MGST3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367884 GT:AD:DP:GQ:PL 1/1:0,10:10:27.07:345,27,0
1 165601466 rs9333378 G A 928.41 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;QD=32.01;SNPEFF_EFFECT=SPLICE_SITE_ACCEPTOR;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MGST3;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000367883 GT:AD:DP:GQ:PL 1/1:0,29:29:72.23:961,72,0
1 165601538 . T TC 419.58 PASS AB=0.647;AC=1;AF=0.50;AN=2;BaseQRankSum=1.35;DP=22;FS=1.922;HRun=2;HaplotypeScore=95.0903;IndelType=I;MQ=60.0;MQ0=0;MQRankSum=-1.504;QD=19.07;ReadPosRankSum=0.579;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MGST3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367883 GT:AD:DP:GQ:PL 0/1:10,12:22:99:459,0,237
1 165619424 rs9333468 G T 51.16 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.58;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MGST3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461759 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
1 165621322 rs77176546 TATTATC T 956.28 PASS AB=0.717;AC=1;AF=0.50;AN=2;BaseQRankSum=4.556;DB;DP=38;FS=2.01;HRun=0;HaplotypeScore=229.5931;IndelType=D;MQ=49.17;MQ0=0;MQRankSum=-4.364;QD=25.17;ReadPosRankSum=0.032;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MGST3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461308 GT:AD:DP:GQ:PL 0/1:23,15:38:99:995,0,2202
1 165623355 rs4147603 C T 144.31 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.268;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.336;QD=14.43;ReadPosRankSum=1.951;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MGST3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461308 GT:AD:DP:GQ:PL 0/1:5,5:10:99:174,0,174
1 165623386 rs4147604 C G 206.82 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.637;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.405;QD=13.79;ReadPosRankSum=1.099;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MGST3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461308 GT:AD:DP:GQ:PL 0/1:8,7:15:99:237,0,294
1 165623411 rs4147605 C G 299.19 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.654;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.503;QD=10.69;ReadPosRankSum=0.216;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MGST3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461308 GT:AD:DP:GQ:PL 0/1:18,10:28:99:329,0,673
1 165623451 rs4147606 C T 549.76 PASS AB=0.592;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.767;DB;DP=49;Dels=0.0;FS=2.496;HRun=1;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=-0.889;QD=11.22;ReadPosRankSum=-0.429;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MGST3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461308 GT:AD:DP:GQ:PL 0/1:29,20:49:99:580,0,993
1 165623693 rs4147607 G C 285.70 PASS AB=0.633;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.262;DB;DP=30;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.078;QD=9.52;ReadPosRankSum=1.078;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MGST3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461308 GT:AD:DP:GQ:PL 0/1:19,11:30:99:316,0,707
1 165624799 rs8133 G T 219.84 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=1.173;DB;DP=21;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.89;MQ0=0;MQRankSum=0.746;QD=10.47;ReadPosRankSum=1.812;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MGST3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461308 GT:AD:DP:GQ:PL 0/1:12,9:21:99:250,0,360
1 165630475 rs7544840 C T 288.72 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.09;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALDH9A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354775 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:322,24,0
1 165630495 rs7511691 T C 406.92 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.99;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALDH9A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354775 GT:AD:DP:GQ:PL 1/1:0,11:11:33.09:440,33,0
1 165630698 rs6667681 A G 1332.67 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.2;MQ0=0;QD=34.17;SNPEFF_AMINO_ACID_CHANGE=T119A;SNPEFF_CODON_CHANGE=Act/Gct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_165630666_165631033;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MGST3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367888 GT:AD:DP:GQ:PL 1/1:0,39:39:99:1366,102,0
1 165634425 rs3820362 C G 164.87 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.259;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.467;QD=13.74;ReadPosRankSum=-2.843;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALDH9A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491436 GT:AD:DP:GQ:PL 0/1:6,6:12:99:195,0,213
1 165636749 rs2176151 A G 136.73 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=0.689;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.995;MQ=58.2;MQ0=0;MQRankSum=0.244;QD=10.52;ReadPosRankSum=0.135;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALDH9A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491436 GT:AD:DP:GQ:PL 0/1:7,6:13:99:167,0,210
1 165648559 rs4646897 T G 74.64 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=1.754;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.3;QD=10.66;ReadPosRankSum=-0.937;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALDH9A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461664 GT:AD:DP:GQ:PL 0/1:4,3:7:99:105,0,129
1 165648886 rs4646896 G A 642.36 PASS AB=0.41;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.698;DB;DP=39;Dels=0.0;FS=4.27;HRun=0;HaplotypeScore=0.0;MQ=59.41;MQ0=0;MQRankSum=-0.814;QD=16.47;ReadPosRankSum=1.556;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALDH9A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461664 GT:AD:DP:GQ:PL 0/1:16,23:39:99:672,0,527
1 165648894 rs4646895 C G 648.50 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=1.512;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.36;MQ0=0;MQRankSum=1.162;QD=18.01;ReadPosRankSum=2.213;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALDH9A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461664 GT:AD:DP:GQ:PL 0/1:16,20:36:99:678,0,521
1 165649467 rs139558109 GAC G 154.86 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=1.495;DB;DP=7;FS=0.0;HRun=0;HaplotypeScore=24.9333;IndelType=D;MQ=61.53;MQ0=0;MQRankSum=-0.922;QD=22.12;ReadPosRankSum=-1.495;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALDH9A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461664 GT:AD:DP:GQ:PL 0/1:2,5:7:89.03:194,0,89
1 165651153 rs2882006 T A 86.55 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.64;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALDH9A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471457 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:119,9,0
1 165651502 rs1913844 G C 1119.67 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.12;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALDH9A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471457 GT:AD:DP:GQ:PL 1/1:0,31:31:84.28:1153,84,0
1 165652273 rs1143659 A G 1333.98 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.58;MQ0=0;QD=29.0;SNPEFF_AMINO_ACID_CHANGE=I134;SNPEFF_CODON_CHANGE=atT/atC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_165652218_165652347;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALDH9A1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000354775 GT:AD:DP:GQ:PL 1/1:1,45:46:99:1367,108,0
1 165652445 rs4233407 A G 907.47 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.29;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALDH9A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354775 GT:AD:DP:GQ:PL 1/1:0,29:29:75.24:940,75,0
1 165664746 . TTC T 147.62 PASS AC=2;AF=1.00;AN=2;DP=6;FS=0.0;HRun=0;HaplotypeScore=51.2769;IndelType=D;MQ=37.52;MQ0=0;QD=24.6;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALDH9A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354775 GT:AD:DP:GQ:PL 1/1:1,5:6:18.04:190,18,0
1 165667512 rs4646883 T C 185.70 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.133;DB;DP=10;Dels=0.0;FS=3.979;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.036;QD=18.57;ReadPosRankSum=-1.866;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALDH9A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354775 GT:AD:DP:GQ:PL 0/1:4,6:10:99:216,0,136
1 165667548 rs4646882 G C 243.20 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.289;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.289;QD=20.27;ReadPosRankSum=0.536;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALDH9A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354775 GT:AD:DP:GQ:PL 0/1:4,8:12:99:273,0,124
1 165670958 rs1547725 T C 1153.32 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.2;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALDH9A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354775 GT:AD:DP:GQ:PL 1/1:0,31:31:87.27:1186,87,0
1 165677673 rs12027066 C T 223.94 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=1.733;DB;DP=11;Dels=0.0;FS=2.73;HRun=0;HaplotypeScore=0.7887;MQ=57.87;MQ0=0;MQRankSum=-0.48;QD=20.36;ReadPosRankSum=0.0;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RP11-466F5.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000400982 GT:AD:DP:GQ:PL 0/1:2,8:11:51.94:254,0,52
1 165677731 rs12044709 A C 270.34 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.649;DB;DP=18;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.71;MQ0=0;MQRankSum=0.883;QD=15.02;ReadPosRankSum=1.06;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RP11-466F5.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000400982 GT:AD:DP:GQ:PL 0/1:9,9:18:99:300,0,306
1 165678072 rs7537774 G A 81.77 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=20.44;ReadPosRankSum=-0.727;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RP11-466F5.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000400982 GT:AD:DP:GQ:PL 0/1:1,3:4:19.51:112,0,20
1 165678099 rs7549418 T C 66.29 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.727;QD=16.57;ReadPosRankSum=0.727;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RP11-466F5.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000400982 GT:AD:DP:GQ:PL 0/1:1,3:4:24.94:96,0,25
1 165712555 rs71826578 GA G 155.99 PASS AB=0.807;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.554;DB;DP=66;FS=7.04;HRun=15;HaplotypeScore=359.9861;IndelType=D;MQ=56.36;MQ0=0;MQRankSum=0.554;QD=2.33;ReadPosRankSum=1.685;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMCO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367881 GT:AD:DP:GQ:PL 0/1:51,12:66:99:195,0,476
1 165721223 rs7512095 T C 70.64 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.358;QD=14.13;ReadPosRankSum=0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMCO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367881 GT:AD:DP:GQ:PL 0/1:2,3:5:67.94:101,0,68
1 165737704 rs2790053 C G 130.74 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.21;MQ0=0;QD=26.15;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMCO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367881 GT:AD:DP:GQ:PL 1/1:0,5:5:15.03:163,15,0
1 165859630 rs477033 C G 785.42 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.7;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UCK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367879 GT:AD:DP:GQ:PL 1/1:0,22:22:60.19:818,60,0
1 165865300 rs4656465 G A 1234.07 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=39.81;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UCK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367879 GT:AD:DP:GQ:PL 1/1:0,31:31:93.29:1267,93,0
1 165865478 rs11553301 G A 1497.30 PASS AB=0.577;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.484;DB;DP=130;Dels=0.0;FS=0.68;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.364;QD=11.52;ReadPosRankSum=0.355;SNPEFF_AMINO_ACID_CHANGE=G136;SNPEFF_CODON_CHANGE=ggG/ggA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_165865427_165865569;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UCK2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367879 GT:AD:DP:GQ:PL 0/1:75,55:130:99:1527,0,2243
1 166027887 rs4589088 A G 68.99 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=FAM78B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456900 GT:AD:DP:GQ:PL 1/1:0,3:3:9.02:101,9,0
1 166028117 rs10800178 C T 575.21 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.96;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=FAM78B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456900 GT:AD:DP:GQ:PL 1/1:0,18:18:45.15:608,45,0
1 166246419 rs2488896 A G 909.47 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.17;MQ0=0;QD=32.48;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP11-7G12.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000400979 GT:AD:DP:GQ:PL 1/1:0,28:28:72.23:942,72,0
1 166591043 rs530513 T C 440.99 PASS AB=0.61;AC=1;AF=0.50;AN=2;BaseQRankSum=2.018;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.174;QD=10.76;ReadPosRankSum=0.414;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FMO9P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477875 GT:AD:DP:GQ:PL 0/1:25,16:41:99:471,0,863
1 166816108 rs56229522 T A 103.08 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.036;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.036;QD=10.31;ReadPosRankSum=-0.365;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POGK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367875 GT:AD:DP:GQ:PL 0/1:6,4:10:99:133,0,218
1 166818566 rs2075946 A G 559.25 PASS AB=0.478;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.466;DB;DP=46;Dels=0.0;FS=2.886;HRun=0;HaplotypeScore=0.0;MQ=58.48;MQ0=0;MQRankSum=0.567;QD=12.16;ReadPosRankSum=0.995;SNPEFF_AMINO_ACID_CHANGE=A132;SNPEFF_CODON_CHANGE=gcA/gcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_166818175_166819660;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POGK;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000537173 GT:AD:DP:GQ:PL 0/1:22,24:46:99:589,0,622
1 166826655 rs6675033 C T 277.94 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.109;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.925;QD=23.16;ReadPosRankSum=-1.479;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POGK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367875 GT:AD:DP:GQ:PL 0/1:3,9:12:81.32:308,0,81
1 166826773 rs6675153 C T 596.97 PASS AB=0.522;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.099;DB;DP=46;Dels=0.0;FS=2.693;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.759;QD=12.98;ReadPosRankSum=0.737;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POGK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367875 GT:AD:DP:GQ:PL 0/1:24,22:46:99:627,0,773
1 166827224 rs6675750 G A 553.22 PASS AB=0.485;AC=1;AF=0.50;AN=2;BaseQRankSum=4.845;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.43;MQ0=0;MQRankSum=-0.414;QD=16.76;ReadPosRankSum=-1.063;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POGK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367875 GT:AD:DP:GQ:PL 0/1:16,17:33:99:583,0,436
1 166827602 rs10800270 A T 121.08 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.752;DB;DP=16;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=1.482;QD=7.57;ReadPosRankSum=-0.423;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POGK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367875 GT:AD:DP:GQ:PL 0/1:9,7:16:99:151,0,331
1 166827674 rs6691431 T C 49.41 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=12.35;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POGK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367875 GT:AD:DP:GQ:PL 1/1:0,4:4:6.02:81,6,0
1 166829320 rs75972845 C CT 264.70 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.165;DB;DP=15;FS=3.68;HRun=2;HaplotypeScore=27.5145;IndelType=I;MQ=58.45;MQ0=0;MQRankSum=1.222;QD=17.65;ReadPosRankSum=-1.109;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POGK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367876 GT:AD:DP:GQ:PL 0/1:6,9:15:99:304,0,181
1 166831404 rs2075947 A C 589.81 PASS AB=0.553;AC=1;AF=0.50;AN=2;BaseQRankSum=2.429;DB;DP=47;Dels=0.0;FS=2.095;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.246;QD=12.55;ReadPosRankSum=-0.738;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TADA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367874 GT:AD:DP:GQ:PL 0/1:26,21:47:99:620,0,865
1 166832841 rs12032642 G C 46.38 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.19;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TADA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367874 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:78,6,0
1 166833199 rs2272793 C A 474.52 PASS AB=0.622;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.457;DB;DP=45;Dels=0.0;FS=1.62;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.316;QD=10.54;ReadPosRankSum=-1.931;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TADA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367874 GT:AD:DP:GQ:PL 0/1:28,17:45:99:505,0,885
1 166838866 rs71253526 A AATTTT 678 PASS AB=0.758;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.913;DB;DP=25;FS=18.468;HRun=0;HaplotypeScore=114.2156;IndelType=I;MQ=57.57;MQ0=0;MQRankSum=-0.598;QD=27.12;ReadPosRankSum=-1.417;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TADA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367874 GT:AD:DP:GQ:PL 0/1:17,7:25:99:717,0,867
1 166839174 rs4657609 G A 132.44 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.935;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.555;QD=10.19;ReadPosRankSum=0.312;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TADA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367874 GT:AD:DP:GQ:PL 0/1:7,6:13:99:162,0,255
1 166958601 rs2296837 T C 40.96 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=8.19;ReadPosRankSum=0.358;SNPEFF_AMINO_ACID_CHANGE=R4;SNPEFF_CODON_CHANGE=cgT/cgC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_166958498_166958721;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAEL;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367870 GT:AD:DP:GQ:PL 0/1:3,2:5:61.38:71,0,61
1 166958607 rs113297248 C G 39.72 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.231;QD=6.62;ReadPosRankSum=0.358;SNPEFF_AMINO_ACID_CHANGE=A6;SNPEFF_CODON_CHANGE=gcC/gcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_166958498_166958721;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAEL;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367870 GT:AD:DP:GQ:PL 0/1:3,3:6:69.71:70,0,71
1 166958937 rs41269702 G T 353.75 PASS AB=0.536;AC=1;AF=0.50;AN=2;BaseQRankSum=3.501;DB;DP=28;Dels=0.0;FS=1.946;HRun=0;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=0.645;QD=12.63;ReadPosRankSum=0.599;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAEL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367870 GT:AD:DP:GQ:PL 0/1:15,13:28:99:384,0,454
1 166961857 rs7511933 G A 148.79 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=1.306;DB;DP=27;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9987;MQ=60.0;MQ0=0;MQRankSum=-0.972;QD=5.51;ReadPosRankSum=-0.472;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAEL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367870 GT:AD:DP:GQ:PL 0/1:18,9:27:99:179,0,661
1 166963234 rs3736988 T C 168.18 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=0.529;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.309;QD=14.02;ReadPosRankSum=-1.635;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAEL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367870 GT:AD:DP:GQ:PL 0/1:5,7:12:99:198,0,174
1 166974420 rs1041238 T C 255.87 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.079;DB;DP=26;Dels=0.0;FS=1.617;HRun=0;HaplotypeScore=1.5253;MQ=59.11;MQ0=0;MQRankSum=-0.026;QD=9.84;ReadPosRankSum=0.395;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAEL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367870 GT:AD:DP:GQ:PL 0/1:16,10:26:99:286,0,516
1 166990153 . A C 42.86 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=14.29;ReadPosRankSum=-0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAEL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000447624 GT:AD:DP:GQ:PL 0/1:1,2:3:33.62:73,0,34
1 167023426 rs3820388 C T 130.26 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.47;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.336;QD=13.03;ReadPosRankSum=0.47;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GPA33;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000527955 GT:AD:DP:GQ:PL 0/1:5,5:10:99:160,0,181
1 167024078 . T G 32.85 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.38;DP=10;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=8.8478;MQ=47.12;MQ0=0;MQRankSum=-1.38;QD=3.29;ReadPosRankSum=1.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GPA33;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367868 GT:AD:DP:GQ:PL 0/1:2,8:10:56.24:63,0,56
1 167024100 . T A 37.52 PASS AB=0.692;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.566;DP=13;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=2.9677;MQ=50.39;MQ0=0;MQRankSum=-2.262;QD=2.89;ReadPosRankSum=1.531;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GPA33;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367868 GT:AD:DP:GQ:PL 0/1:9,4:13:67.51:68,0,198
1 167059336 rs2281964 C T 302 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.75;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GPA33;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367868 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:335,24,0
1 167059462 rs2281963 G C 1142 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GPA33;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367868 GT:AD:DP:GQ:PL 1/1:0,36:36:87.25:1175,87,0
1 167059575 rs28384507 G T 537.57 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.87;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_1_167059482_167059868;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GPA33;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367868 GT:AD:DP:GQ:PL 1/1:0,18:18:45.10:571,45,0
1 167082869 rs12122365 G A 1145.78 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=59.32;MQ0=0;QD=33.7;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DUSP27;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271385 GT:AD:DP:GQ:PL 1/1:0,34:34:93.29:1179,93,0
1 167095163 rs267745 G C 352.97 PASS AB=0.513;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.949;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=57.83;MQ0=0;MQRankSum=0.292;QD=9.05;ReadPosRankSum=-0.613;SNPEFF_AMINO_ACID_CHANGE=E265D;SNPEFF_CODON_CHANGE=gaG/gaC;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_167095024_167097845;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DUSP27;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000271385 GT:AD:DP:GQ:PL 0/1:20,19:39:99:383,0,511
1 167097070 rs61748781 G A 406.39 PASS AB=0.595;AC=1;AF=0.50;AN=2;BaseQRankSum=0.701;DB;DP=42;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=-1.257;QD=9.68;ReadPosRankSum=-1.601;SNPEFF_AMINO_ACID_CHANGE=R901H;SNPEFF_CODON_CHANGE=cGc/cAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_167095024_167097845;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DUSP27;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000271385 GT:AD:DP:GQ:PL 0/1:25,17:42:99:436,0,661
1 167097567 rs61748784 G A 450.31 PASS AB=0.348;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.452;DB;DP=23;Dels=0.0;FS=4.304;HRun=1;HaplotypeScore=0.0;MQ=58.99;MQ0=0;MQRankSum=-0.678;QD=19.58;ReadPosRankSum=1.388;SNPEFF_AMINO_ACID_CHANGE=D1067N;SNPEFF_CODON_CHANGE=Gac/Aac;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_167095024_167097845;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DUSP27;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000271385 GT:AD:DP:GQ:PL 0/1:8,15:23:99:480,0,260
1 167097739 rs2281959 C A 171.98 PASS AB=0.742;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.519;DB;DP=31;Dels=0.0;FS=3.851;HRun=1;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=-0.7;QD=5.55;ReadPosRankSum=-0.068;SNPEFF_AMINO_ACID_CHANGE=T1124N;SNPEFF_CODON_CHANGE=aCt/aAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_167095024_167097845;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DUSP27;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000271385 GT:AD:DP:GQ:PL 0/1:23,8:31:99:202,0,742
1 167353258 rs35617253 AT A 295.37 PASS AC=2;AF=1.00;AN=2;DB;DP=17;FS=0.0;HRun=10;HaplotypeScore=45.7003;IndelType=D;MQ=61.26;MQ0=0;QD=17.37;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POU2F1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000492850 GT:AD:DP:GQ:PL 1/1:4,13:17:38.98:337,39,0
1 167367193 rs7524019 C T 1431.87 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.41;MQ0=0;QD=36.71;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POU2F1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000452019 GT:AD:DP:GQ:PL 1/1:0,39:39:99:1465,108,0
1 167382374 rs10753757 A C 1561.12 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.99;MQ0=0;QD=31.86;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POU2F1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367862 GT:AD:DP:GQ:PL 1/1:0,49:49:99:1594,123,0
1 167382399 rs72086535 AGTGT A 748.15 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.091;DB;DP=33;FS=0.0;HRun=0;HaplotypeScore=255.8628;IndelType=D;MQ=53.47;MQ0=0;MQRankSum=1.187;QD=22.67;ReadPosRankSum=0.822;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POU2F1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367862 GT:AD:DP:GQ:PL 1/1:15,17:33:53.46:790,53,0
1 167385178 rs71850487 G GA 352.82 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.883;DB;DP=40;FS=0.0;HRun=15;HaplotypeScore=351.7223;IndelType=I;MQ=49.83;MQ0=0;MQRankSum=-0.08;QD=8.82;ReadPosRankSum=-0.241;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POU2F1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000429375 GT:AD:DP:GQ:PL 1/1:18,15:40:20.29:395,20,0
1 167385324 rs34032944 TA T 67.90 PASS AB=0.718;AC=1;AF=0.50;AN=2;BaseQRankSum=0.391;DB;DP=28;FS=4.803;HRun=19;HaplotypeScore=190.7903;IndelType=D;MQ=46.7;MQ0=0;MQRankSum=-1.733;QD=2.43;ReadPosRankSum=-0.28;SNPEFF_EFFECT=FRAME_SHIFT;SNPEFF_EXON_ID=exon_1_167385286_167385326;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POU2F1;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000420254 GT:AD:DP:GQ:PL 0/1:17,7:28:15.18:107,0,15
1 167403504 rs952962 A G 95.20 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.8;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD247;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000362089 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:127,9,0
1 167404078 rs3108156 G A 595.70 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.76;MQ0=0;QD=31.35;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD247;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000362089 GT:AD:DP:GQ:PL 1/1:0,19:19:45.15:629,45,0
1 167404179 rs61806155 G A 31.90 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.937;DB;DP=7;Dels=0.0;FS=3.68;HRun=1;HaplotypeScore=1.4538;MQ=60.0;MQ0=0;MQRankSum=-0.55;QD=4.56;ReadPosRankSum=-0.55;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD247;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479979 GT:AD:DP:GQ:PL 0/1:4,3:7:61.89:62,0,131
1 167404514 rs55696551 C G 119.29 PASS AB=0.68;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.439;DB;DP=25;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=52.49;MQ0=0;MQRankSum=0.521;QD=4.77;ReadPosRankSum=-0.765;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD247;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479979 GT:AD:DP:GQ:PL 0/1:17,8:25:99:149,0,476
1 167407686 rs2462553 T C 489.04 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.93;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD247;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479979 GT:AD:DP:GQ:PL 1/1:0,14:14:39.13:522,39,0
1 167407799 rs56199250 A T 1131.25 PASS AB=0.397;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.857;DB;DP=64;Dels=0.0;FS=6.266;HRun=0;HaplotypeScore=1.7675;MQ=59.28;MQ0=0;MQRankSum=-0.76;QD=17.68;ReadPosRankSum=-1.011;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD247;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479979 GT:AD:DP:GQ:PL 0/1:25,38:64:99:1161,0,705
1 167515272 rs7513428 T C 148.01 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.851;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9967;MQ=60.0;MQ0=0;MQRankSum=1.268;QD=14.8;ReadPosRankSum=-0.47;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CREG1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370509 GT:AD:DP:GQ:PL 0/1:5,5:10:99:178,0,133
1 167734717 rs3830183 A G 134.62 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=0.322;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.956;QD=16.83;ReadPosRankSum=0.956;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MPZL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359523 GT:AD:DP:GQ:PL 0/1:3,5:8:96.19:165,0,96
1 167745157 rs4657711 A G 106.70 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.34;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MPZL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465787 GT:AD:DP:GQ:PL 1/1:0,5:5:12.03:139,12,0
1 167778843 rs3213588 G A 270.88 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=1.102;DB;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=-0.604;QD=12.31;ReadPosRankSum=-0.249;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADCY10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367848 GT:AD:DP:GQ:PL 0/1:12,10:22:99:301,0,418
1 167792050 rs34888342 C T 211.57 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.134;DB;DP=12;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9998;MQ=60.0;MQ0=0;MQRankSum=0.689;QD=17.63;ReadPosRankSum=0.529;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADCY10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271426 GT:AD:DP:GQ:PL 0/1:5,7:12:99:242,0,171
1 167792079 rs2269673 G T 369.40 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.736;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=2.276;QD=18.47;ReadPosRankSum=1.119;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADCY10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271426 GT:AD:DP:GQ:PL 0/1:8,12:20:99:399,0,220
1 167802068 rs3738234 A G 78.09 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.754;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.6643;MQ=60.0;MQ0=0;MQRankSum=-0.55;QD=11.16;ReadPosRankSum=-1.754;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADCY10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271426 GT:AD:DP:GQ:PL 0/1:3,4:7:99:108,0,102
1 167806642 rs35986349 C G 326.95 PASS AB=0.412;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.22;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-2.001;QD=19.23;ReadPosRankSum=-0.146;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADCY10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367848 GT:AD:DP:GQ:PL 0/1:7,10:17:99:357,0,235
1 167806647 rs1034463 T A 266.49 PASS AB=0.438;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.694;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.529;QD=16.66;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADCY10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367848 GT:AD:DP:GQ:PL 0/1:7,9:16:99:296,0,239
1 167806696 rs1034464 T C 42.84 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.026;QD=10.71;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADCY10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367848 GT:AD:DP:GQ:PL 0/1:2,2:4:70.42:73,0,70
1 167906239 rs203788 A C 174.28 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.62;MQ0=0;QD=24.9;SNPEFF_AMINO_ACID_CHANGE=R30;SNPEFF_CODON_CHANGE=cgA/cgC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_167905946_167906246;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=DCAF6;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000312263 GT:AD:DP:GQ:PL 1/1:0,7:7:18.04:207,18,0
1 167972023 rs202248 G A 51.22 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.61;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=DCAF6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000312263 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
1 168025400 rs3977721 G C 561.98 PASS AB=0.475;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.978;DB;DP=61;Dels=0.0;FS=10.0;HRun=0;HaplotypeScore=0.5784;MQ=47.11;MQ0=2;MQRankSum=-1.933;QD=9.21;ReadPosRankSum=0.902;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=DCAF6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000312263 GT:AD:DP:GQ:PL 0/1:29,32:61:99:592,0,1029
1 168025409 rs3977722 A G 655.79 PASS AB=0.443;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.164;DB;DP=61;Dels=0.0;FS=7.625;HRun=0;HaplotypeScore=1.5731;MQ=47.88;MQ0=2;MQRankSum=-1.879;QD=10.75;ReadPosRankSum=-0.221;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=DCAF6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000312263 GT:AD:DP:GQ:PL 0/1:27,34:61:99:686,0,955
1 168025442 rs6657295 A G 293.85 PASS AB=0.788;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.799;DB;DP=80;Dels=0.0;FS=2.342;HRun=0;HaplotypeScore=0.0;MQ=53.72;MQ0=0;MQRankSum=2.964;QD=3.67;ReadPosRankSum=0.682;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=DCAF6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000312263 GT:AD:DP:GQ:PL 0/1:63,17:80:99:324,0,2028
1 168025538 rs3977723 T C 348.22 PASS AB=0.553;AC=1;AF=0.50;AN=2;BaseQRankSum=1.13;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9999;MQ=55.85;MQ0=0;MQRankSum=-0.111;QD=9.16;ReadPosRankSum=1.066;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=DCAF6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000312263 GT:AD:DP:GQ:PL 0/1:21,17:38:99:378,0,591
1 168025577 rs7535741 C T 111.01 PASS AB=0.774;AC=1;AF=0.50;AN=2;BaseQRankSum=3.567;DB;DP=31;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=3.6381;MQ=51.36;MQ0=0;MQRankSum=0.496;QD=3.58;ReadPosRankSum=-3.142;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=DCAF6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000312263 GT:AD:DP:GQ:PL 0/1:24,7:31:99:141,0,602
1 168025628 rs7535915 G A 35.24 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.849;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=40.38;MQ0=0;MQRankSum=-0.555;QD=2.94;ReadPosRankSum=2.404;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=DCAF6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000312263 GT:AD:DP:GQ:PL 0/1:9,3:12:65.23:65,0,290
1 168025664 rs7535844 C A 107.24 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=31.47;MQ0=0;QD=26.81;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=DCAF6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000312263 GT:AD:DP:GQ:PL 1/1:0,4:4:12.03:140,12,0
1 168035104 rs380095 G C 200.37 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.39;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=DCAF6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478668 GT:AD:DP:GQ:PL 1/1:0,6:6:18.05:233,18,0
1 168200733 rs11588504 T C 781.40 PASS AB=0.304;AC=1;AF=0.50;AN=2;BaseQRankSum=0.527;DB;DP=46;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9662;MQ=60.0;MQ0=0;MQRankSum=-1.385;QD=16.99;ReadPosRankSum=-1.41;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SFT2D2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271375 GT:AD:DP:GQ:PL 0/1:14,32:46:99:811,0,319
1 168206118 rs3830719 GTTTAA G 555.01 PASS AB=0.756;AC=1;AF=0.50;AN=2;BaseQRankSum=4.476;DB;DP=34;FS=0.0;HRun=0;HaplotypeScore=170.7459;IndelType=D;MQ=58.07;MQ0=0;MQRankSum=-0.646;QD=16.32;ReadPosRankSum=0.732;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SFT2D2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471981 GT:AD:DP:GQ:PL 0/1:23,11:34:99:594,0,1664
1 168208308 rs12142742 T C 1466.80 PASS AB=0.52;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.538;DB;DP=98;Dels=0.0;FS=0.939;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.582;QD=14.97;ReadPosRankSum=0.589;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SFT2D2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471981 GT:AD:DP:GQ:PL 0/1:51,47:98:99:1497,0,1516
1 168262289 rs7543224 A G 632.10 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.12;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TBX19;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367821 GT:AD:DP:GQ:PL 1/1:0,18:18:48.16:665,48,0
1 168262299 rs7520743 C T 743.02 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TBX19;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367821 GT:AD:DP:GQ:PL 1/1:0,21:21:57.19:776,57,0
1 168274201 rs4656579 G A 594.70 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.073;DB;DP=21;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.7886;MQ=58.89;MQ0=0;MQRankSum=0.413;QD=28.32;ReadPosRankSum=0.413;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TBX19;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367821 GT:AD:DP:GQ:PL 1/1:1,20:21:11.94:627,12,0
1 168278264 rs1883148 G A 110.78 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.46;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TBX19;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367821 GT:AD:DP:GQ:PL 1/1:0,6:6:12.03:143,12,0
1 168282261 rs3885717 T A 169.75 PASS AB=0.647;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.055;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.352;QD=9.99;ReadPosRankSum=1.357;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TBX19;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465440 GT:AD:DP:GQ:PL 0/1:11,6:17:99:200,0,324
1 168344829 rs78825966 C T 1792.15 PASS AB=0.513;AC=1;AF=0.50;AN=2;BaseQRankSum=5.859;DB;DP=119;Dels=0.0;FS=3.708;HRun=0;HaplotypeScore=5.2302;MQ=59.65;MQ0=0;MQRankSum=0.856;QD=15.06;ReadPosRankSum=1.599;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=MIR557;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000385239 GT:AD:DP:GQ:PL 0/1:61,58:119:99:1822,0,1507
1 168510122 rs470733 T A 104.12 PASS AB=0.579;AC=1;AF=0.50;AN=2;BaseQRankSum=0.906;DB;DP=19;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9997;MQ=48.56;MQ0=1;MQRankSum=-2.174;QD=5.48;ReadPosRankSum=0.725;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XCL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367819 GT:AD:DP:GQ:PL 0/1:11,8:19:99:134,0,331
1 168511155 rs76400946 T C 458.37 PASS AB=0.641;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.478;DB;DP=64;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9998;MQ=54.86;MQ0=4;MQRankSum=-0.683;QD=7.16;ReadPosRankSum=-0.318;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XCL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367819 GT:AD:DP:GQ:PL 0/1:41,23:64:99:488,0,1386
1 168511284 rs4282797 T C 290.66 PASS AB=0.737;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.857;DB;DP=100;Dels=0.0;FS=7.395;HRun=1;HaplotypeScore=1.7262;MQ=54.14;MQ0=8;MQRankSum=-5.106;QD=2.91;ReadPosRankSum=-3.771;SNPEFF_AMINO_ACID_CHANGE=P41;SNPEFF_CODON_CHANGE=ccA/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_168511231_168511345;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XCL2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367819 GT:AD:DP:GQ:PL 0/1:73,26:100:99:321,0,2462
1 168511349 rs4478789 A G 149.52 PASS AB=0.786;AC=1;AF=0.50;AN=2;BaseQRankSum=2.379;DB;DP=70;Dels=0.01;FS=11.265;HRun=1;HaplotypeScore=4.8394;MQ=54.42;MQ0=5;MQRankSum=-3.263;QD=2.11;ReadPosRankSum=-0.743;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XCL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367819 GT:AD:DP:GQ:PL 0/1:55,15:70:99:180,0,1659
1 168513129 rs3820405 C T 364.55 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.75;DB;DP=36;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.8667;MQ=54.11;MQ0=0;MQRankSum=-0.75;QD=10.13;ReadPosRankSum=-1.017;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XCL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367819 GT:AD:DP:GQ:PL 0/1:20,16:36:99:395,0,601
1 168513243 rs1933114 G A 87.97 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.609;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.515;QD=4.89;ReadPosRankSum=-0.234;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XCL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367819 GT:AD:DP:GQ:PL 0/1:12,6:18:99:118,0,413
1 168546029 . C A 101.22 SnpCluster AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.259;DP=12;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9578;MQ=47.38;MQ0=0;MQRankSum=-2.843;QD=8.43;ReadPosRankSum=2.588;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XCL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367818 GT:AD:DP:GQ:PL 0/1:6,6:12:99:131,0,206
1 168546035 rs148646388 T G 118.84 SnpCluster AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.47;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9578;MQ=46.06;MQ0=0;MQRankSum=-2.45;QD=10.8;ReadPosRankSum=2.148;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XCL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367818 GT:AD:DP:GQ:PL 0/1:5,5:11:99:149,0,175
1 168546038 rs480717 C T 120.92 SnpCluster AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.365;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9578;MQ=44.43;MQ0=0;MQRankSum=-2.383;QD=12.09;ReadPosRankSum=1.568;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XCL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367818 GT:AD:DP:GQ:PL 0/1:4,6:10:99:151,0,129
1 168549254 rs5024578 A G 92.38 QDFilter2 AB=0.813;AC=1;AF=0.50;AN=2;BaseQRankSum=0.218;DB;DP=80;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=55.81;MQ0=3;MQRankSum=-2.97;QD=1.15;ReadPosRankSum=-0.021;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XCL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367818 GT:AD:DP:GQ:PL 0/1:65,15:80:99:122,0,2116
1 168549422 rs6427130 C T 1477.45 PASS AB=0.59;AC=1;AF=0.50;AN=2;BaseQRankSum=2.082;DB;DP=139;Dels=0.0;FS=0.703;HRun=1;HaplotypeScore=0.0;MQ=57.26;MQ0=4;MQRankSum=2.176;QD=10.63;ReadPosRankSum=-1.649;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XCL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367818 GT:AD:DP:GQ:PL 0/1:82,57:139:99:1507,0,2285
1 168550535 rs79981832 A G 397.45 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=2.295;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=53.47;MQ0=2;MQRankSum=2.295;QD=19.87;ReadPosRankSum=1.264;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XCL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367818 GT:AD:DP:GQ:PL 0/1:8,12:20:99:427,0,131
1 168665747 rs78760104 C CT 545.46 PASS AB=0.674;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.64;DB;DP=29;FS=6.495;HRun=0;HaplotypeScore=78.4661;IndelType=I;MQ=59.95;MQ0=0;MQRankSum=0.633;QD=18.81;ReadPosRankSum=-0.109;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DPT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367817 GT:AD:DP:GQ:PL 0/1:15,14:29:99:584,0,524
1 168665974 rs524705 T C 34.19 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=1.495;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.922;QD=4.88;ReadPosRankSum=0.198;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DPT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367817 GT:AD:DP:GQ:PL 0/1:5,2:7:64.18:64,0,136
1 168697942 rs628718 C T 52.75 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DPT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367817 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:84,6,0
1 169076212 rs1200128 G C 114.30 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=19.05;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP1B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367815 GT:AD:DP:GQ:PL 1/1:0,6:6:12.04:147,12,0
1 169080435 rs1200137 T C 281.27 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.25;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP1B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367813 GT:AD:DP:GQ:PL 1/1:0,9:9:24.08:314,24,0
1 169080837 rs1200138 C T 663.16 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.84;MQ0=0;QD=33.16;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP1B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367813 GT:AD:DP:GQ:PL 1/1:0,20:20:54.17:696,54,0
1 169094100 rs968304 T A 1434.34 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.41;MQ0=0;QD=32.6;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP1B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367813 GT:AD:DP:GQ:PL 1/1:0,44:44:99:1467,111,0
1 169094459 rs1892094 C T 87.77 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.248;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=-0.573;QD=9.75;ReadPosRankSum=-0.248;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP1B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367813 GT:AD:DP:GQ:PL 0/1:3,6:9:99:118,0,100
1 169099061 rs1200157 G A 133.85 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.46;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP1B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000494797 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:166,12,0
1 169101935 rs1138486 C T 291.46 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.002;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.002;QD=19.43;ReadPosRankSum=0.177;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP1B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367813 GT:AD:DP:GQ:PL 0/1:6,9:15:99:321,0,204
1 169102223 rs61803315 G C 81.18 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.231;QD=16.24;ReadPosRankSum=1.231;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP1B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367813 GT:AD:DP:GQ:PL 0/1:2,3:5:63.39:111,0,63
1 169138307 rs4656656 C A 875.69 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.19;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NME7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000483228 GT:AD:DP:GQ:PL 1/1:0,30:30:69.22:909,69,0
1 169138318 rs4656657 T A 804.40 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=7;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.73;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NME7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000483228 GT:AD:DP:GQ:PL 1/1:0,28:28:66.21:837,66,0
1 169138868 rs3737681 C T 1924.63 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.54;MQ0=0;QD=38.49;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NME7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367811 GT:AD:DP:GQ:PL 1/1:0,50:50:99:1958,144,0
1 169200111 rs10800420 C T 708.22 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NME7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367811 GT:AD:DP:GQ:PL 1/1:0,21:21:57.18:741,57,0
1 169206744 rs34246691 T C 215.51 PASS AB=0.437;AC=1;AF=0.50;AN=2;BaseQRankSum=0.295;DB;DP=16;Dels=0.0;FS=3.979;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.355;QD=13.47;ReadPosRankSum=0.177;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NME7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367811 GT:AD:DP:GQ:PL 0/1:7,9:16:99:246,0,197
1 169206994 rs35686505 A AT 295.62 PASS AB=0.703;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.8;DB;DP=26;FS=0.0;HRun=6;HaplotypeScore=62.0;IndelType=I;MQ=60.83;MQ0=0;MQRankSum=-0.215;QD=11.37;ReadPosRankSum=-0.954;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NME7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367811 GT:AD:DP:GQ:PL 0/1:15,11:26:99:335,0,296
1 169256341 rs71635617 C T 104.47 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.421;QD=13.06;ReadPosRankSum=-0.421;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NME7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469474 GT:AD:DP:GQ:PL 0/1:4,4:8:99:134,0,145
1 169256349 rs2420015 C G 333.94 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.1;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NME7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469474 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:367,27,0
1 169256356 rs5778611 G GA 443.55 PASS AC=2;AF=1.00;AN=2;DB;DP=12;FS=0.0;HRun=4;HaplotypeScore=74.837;IndelType=I;MQ=60.9;MQ0=0;QD=36.96;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NME7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469474 GT:AD:DP:GQ:PL 1/1:0,12:12:36.12:486,36,0
1 169256501 rs4589164 C T 2764.06 PASS AB=0.477;AC=1;AF=0.50;AN=2;BaseQRankSum=3.599;DB;DP=193;Dels=0.0;FS=2.367;HRun=1;HaplotypeScore=2.8228;MQ=59.66;MQ0=0;MQRankSum=-1.252;QD=14.32;ReadPosRankSum=-0.888;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NME7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367811 GT:AD:DP:GQ:PL 0/1:92,101:193:99:2794,0,2803
1 169268077 rs12116683 T C 138.79 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.073;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.869;QD=11.57;ReadPosRankSum=-0.869;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NME7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000527460 GT:AD:DP:GQ:PL 0/1:6,6:12:99:169,0,211
1 169272299 rs10919130 A T 213.14 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.025;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.058;QD=13.32;ReadPosRankSum=0.984;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NME7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000527460 GT:AD:DP:GQ:PL 0/1:8,8:16:99:243,0,293
1 169272451 rs10800427 A T 418.04 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.59;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NME7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367811 GT:AD:DP:GQ:PL 1/1:0,17:17:45.07:451,45,0
1 169272453 rs10800428 G A 421.16 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.77;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NME7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367811 GT:AD:DP:GQ:PL 1/1:0,17:17:45.08:454,45,0
1 169279196 rs34054662 T TA 1116.94 PASS AB=0.657;AC=1;AF=0.50;AN=2;BaseQRankSum=-6.612;DB;DP=71;FS=7.948;HRun=7;HaplotypeScore=143.1953;IndelType=I;MQ=60.0;MQ0=0;MQRankSum=-1.538;QD=15.73;ReadPosRankSum=0.664;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NME7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367811 GT:AD:DP:GQ:PL 0/1:34,37:71:99:1156,0,639
1 169293721 rs7538259 G A 690.63 PASS AB=0.303;AC=1;AF=0.50;AN=2;BaseQRankSum=0.725;DB;DP=33;Dels=0.0;FS=1.67;HRun=2;HaplotypeScore=0.9894;MQ=60.0;MQ0=0;MQRankSum=1.195;QD=20.93;ReadPosRankSum=0.176;SNPEFF_AMINO_ACID_CHANGE=F7;SNPEFF_CODON_CHANGE=ttC/ttT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_169293631_169293738;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NME7;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367811 GT:AD:DP:GQ:PL 0/1:10,23:33:99:721,0,276
1 169345704 rs12563090 G A 134.58 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.001;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.248;QD=14.95;ReadPosRankSum=0.573;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BLZF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329281 GT:AD:DP:GQ:PL 0/1:3,6:9:99:165,0,100
1 169345868 rs1028180 A G 555.89 PASS AB=0.509;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.126;DB;DP=53;Dels=0.0;FS=8.103;HRun=0;HaplotypeScore=0.0;MQ=59.56;MQ0=0;MQRankSum=0.668;QD=10.49;ReadPosRankSum=-0.668;SNPEFF_AMINO_ACID_CHANGE=Q40R;SNPEFF_CODON_CHANGE=cAa/cGa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_169345778_169346217;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BLZF1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000329281 GT:AD:DP:GQ:PL 0/1:27,26:53:99:586,0,849
1 169347545 rs2271762 G A 817.67 PASS AB=0.447;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.787;DB;DP=47;Dels=0.0;FS=1.471;HRun=0;HaplotypeScore=0.9999;MQ=60.0;MQ0=0;MQRankSum=-0.61;QD=17.4;ReadPosRankSum=0.931;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BLZF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367807 GT:AD:DP:GQ:PL 0/1:21,26:47:99:848,0,640
1 169349608 rs3830533 C CTA 815.29 PASS AC=2;AF=1.00;AN=2;DB;DP=15;FS=0.0;HRun=0;HaplotypeScore=33.1675;IndelType=I;MQ=56.76;MQ0=0;QD=54.35;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BLZF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367807 GT:AD:DP:GQ:PL 1/1:2,13:15:45.15:857,45,0
1 169351596 rs3905328 A G 405.25 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.84;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BLZF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367807 GT:AD:DP:GQ:PL 1/1:0,11:11:33.11:438,33,0
1 169366516 rs2272801 G A 312.68 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.249;DB;DP=30;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.734;MQ=59.38;MQ0=0;MQRankSum=0.572;QD=10.42;ReadPosRankSum=1.037;SNPEFF_AMINO_ACID_CHANGE=F442;SNPEFF_CODON_CHANGE=ttC/ttT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_169366475_169366626;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf114;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367805 GT:AD:DP:GQ:PL 0/1:18,12:30:99:343,0,577
1 169388193 rs3765229 T C 1014.26 PASS AB=0.468;AC=1;AF=0.50;AN=2;BaseQRankSum=2.342;DB;DP=62;Dels=0.0;FS=9.415;HRun=0;HaplotypeScore=0.0;MQ=59.4;MQ0=0;MQRankSum=-0.339;QD=16.36;ReadPosRankSum=0.141;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf114;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456107 GT:AD:DP:GQ:PL 0/1:29,33:62:99:1044,0,999
1 169390957 rs35107735 A T 1204.34 PASS AB=0.51;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.554;DB;DP=100;Dels=0.0;FS=8.162;HRun=0;HaplotypeScore=3.866;MQ=59.31;MQ0=0;MQRankSum=-1.719;QD=12.04;ReadPosRankSum=-1.549;SNPEFF_AMINO_ACID_CHANGE=F238I;SNPEFF_CODON_CHANGE=Ttt/Att;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_169390601_169391551;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf114;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367805 GT:AD:DP:GQ:PL 0/1:51,49:100:99:1234,0,1485
1 169391154 rs3820059 A G 1838.65 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.64;SNPEFF_AMINO_ACID_CHANGE=F172S;SNPEFF_CODON_CHANGE=tTt/tCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_169390601_169391551;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf114;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367805 GT:AD:DP:GQ:PL 1/1:0,60:60:99:1872,147,0
1 169393888 rs16862153 C T 141.77 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.717;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=0.466;QD=12.89;ReadPosRankSum=0.825;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf114;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367805 GT:AD:DP:GQ:PL 0/1:6,5:11:99:172,0,212
1 169394226 rs10919168 A G 920.05 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.28;MQ0=0;QD=35.39;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf114;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367805 GT:AD:DP:GQ:PL 1/1:0,26:26:69.23:953,69,0
1 169435027 rs2678166 C T 1754 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.9766;MQ=59.14;MQ0=0;QD=32.48;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC19A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236137 GT:AD:DP:GQ:PL 1/1:0,54:54:99:1787,132,0
1 169446183 rs1983546 A G 53.83 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.422;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.573;QD=5.98;ReadPosRankSum=1.203;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC19A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236137 GT:AD:DP:GQ:PL 0/1:6,3:9:83.82:84,0,214
1 169493953 rs12131397 A C 333.69 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=F5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367796 GT:AD:DP:GQ:PL 1/1:0,10:10:27.08:367,27,0
1 169498834 rs6009 T C 1085.07 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=F5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367796 GT:AD:DP:GQ:PL 1/1:0,31:31:84.26:1118,84,0
1 169510233 rs9332607 G A 4014.13 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.898;DB;DP=136;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.1062;MQ=59.56;MQ0=0;MQRankSum=1.953;QD=29.52;ReadPosRankSum=0.952;SNPEFF_AMINO_ACID_CHANGE=T1365;SNPEFF_CODON_CHANGE=acC/acT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_169509532_169512352;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=F5;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367797 GT:AD:DP:GQ:PL 1/1:7,129:136:99:4014,213,0
1 169519049 rs6025 T C 839.41 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.98;SNPEFF_AMINO_ACID_CHANGE=Q534R;SNPEFF_CODON_CHANGE=cAa/cGa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_169519039_169519253;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=F5;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367796 GT:AD:DP:GQ:PL 1/1:0,24:24:63.21:872,63,0
1 169519417 rs7537742 G A 90.74 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=49.32;MQ0=0;QD=30.25;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=F5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367796 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:123,9,0
1 169528384 rs6023 G A 468.11 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=2.375;DB;DP=45;Dels=0.0;FS=2.893;HRun=0;HaplotypeScore=0.0;MQ=58.97;MQ0=0;MQRankSum=0.591;QD=10.4;ReadPosRankSum=1.263;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=F5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367796 GT:AD:DP:GQ:PL 0/1:27,18:45:99:498,0,829
1 169559326 rs3917853 G A 538.31 PASS AB=0.346;AC=1;AF=0.50;AN=2;BaseQRankSum=1.024;DB;DP=26;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.7995;MQ=60.0;MQ0=0;MQRankSum=0.108;QD=20.7;ReadPosRankSum=-0.377;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SELP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263686 GT:AD:DP:GQ:PL 0/1:9,17:26:99:568,0,280
1 169559333 rs3917852 AT A 489.53 PASS AB=0.604;AC=1;AF=0.50;AN=2;BaseQRankSum=3.38;DB;DP=29;FS=0.0;HRun=5;HaplotypeScore=152.2877;IndelType=D;MQ=60.74;MQ0=0;MQRankSum=0.408;QD=16.88;ReadPosRankSum=-0.168;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SELP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263686 GT:AD:DP:GQ:PL 0/1:10,19:29:99:529,0,317
1 169560471 rs3917840 A G 37.45 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SELP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263686 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:69,6,0
1 169560485 rs3917839 T G 49.41 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.7;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SELP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263686 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
1 169560727 rs35706397 T TAA 699.24 PASS AB=0.566;AC=1;AF=0.50;AN=2;BaseQRankSum=0.033;DB;DP=30;FS=3.178;HRun=12;HaplotypeScore=123.4961;IndelType=I;MQ=57.92;MQ0=0;MQRankSum=-1.215;QD=23.31;ReadPosRankSum=-2.528;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SELP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263686 GT:AD:DP:GQ:PL 0/1:7,16:30:28.88:738,0,29
1 169563062 rs17522707 G A 364.13 PASS AB=0.421;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.362;DB;DP=19;Dels=0.0;FS=4.102;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.95;QD=19.16;ReadPosRankSum=0.619;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SELP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263686 GT:AD:DP:GQ:PL 0/1:8,11:19:99:394,0,226
1 169564130 rs1569471 T G 252.99 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.939;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9734;MQ=60.0;MQ0=0;MQRankSum=-0.286;QD=12.65;ReadPosRankSum=-0.367;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SELP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263686 GT:AD:DP:GQ:PL 0/1:10,10:20:99:283,0,312
1 169566313 rs6127 C T 718.32 PASS AB=0.527;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.419;DB;DP=55;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.16;QD=13.06;ReadPosRankSum=-1.93;SNPEFF_AMINO_ACID_CHANGE=D526N;SNPEFF_CODON_CHANGE=Gac/Aac;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_169566229_169566414;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SELP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000458599 GT:AD:DP:GQ:PL 0/1:29,26:55:99:748,0,986
1 169566373 rs143011778 G A 452.76 PASS AB=0.529;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.224;DB;DP=34;Dels=0.0;FS=12.817;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.983;QD=13.32;ReadPosRankSum=-0.845;SNPEFF_AMINO_ACID_CHANGE=L506;SNPEFF_CODON_CHANGE=Ctg/Ttg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_169566229_169566414;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SELP;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000458599 GT:AD:DP:GQ:PL 0/1:18,16:34:99:483,0,645
1 169580510 rs3917733 C T 48.72 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SELP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263686 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:80,6,0
1 169580717 rs3917731 T C 1440.28 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;QD=34.29;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SELP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263686 GT:AD:DP:GQ:PL 1/1:0,42:42:99:1473,111,0
1 169580972 rs3917730 C CAT 2330.04 PASS AC=2;AF=1.00;AN=2;DB;DP=44;FS=0.0;HRun=0;HaplotypeScore=97.1947;IndelType=I;MQ=61.67;MQ0=0;QD=52.96;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SELP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263686 GT:AD:DP:GQ:PL 1/1:0,44:44:99:2372,132,0
1 169599254 rs732314 T C 1473.80 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.5;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SELP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263686 GT:AD:DP:GQ:PL 1/1:0,44:44:99:1507,114,0
1 169660781 rs12938 A G 237.69 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=57.05;MQ0=0;QD=29.71;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SELL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000497295 GT:AD:DP:GQ:PL 1/1:0,8:8:24.07:271,24,0
1 169665551 rs4987358 G T 351 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.25;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SELL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236147 GT:AD:DP:GQ:PL 1/1:0,12:12:30.10:384,30,0
1 169665632 rs2223286 T C 901.83 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.4;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SELL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236147 GT:AD:DP:GQ:PL 1/1:0,27:27:69.22:935,69,0
1 169672595 . GA G 105.66 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.506;DP=30;FS=7.104;HRun=14;HaplotypeScore=198.1709;IndelType=D;MQ=56.85;MQ0=0;MQRankSum=1.333;QD=3.52;ReadPosRankSum=2.086;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SELL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466340 GT:AD:DP:GQ:PL 0/1:20,8:30:99:145,0,189
1 169676293 rs2205848 G A 345.74 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.57;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SELL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236147 GT:AD:DP:GQ:PL 1/1:0,10:10:30.05:379,30,0
1 169676486 rs1131498 A G 2967.98 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.411;DB;DP=94;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7323;MQ=59.51;MQ0=0;MQRankSum=1.337;QD=31.57;ReadPosRankSum=-0.887;SNPEFF_AMINO_ACID_CHANGE=F206L;SNPEFF_CODON_CHANGE=Ttt/Ctt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_169676483_169676590;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SELL;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000236147 GT:AD:DP:GQ:PL 1/1:2,91:94:99:3001,189,0
1 169679553 rs4987280 C T 1413.31 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9967;MQ=59.57;MQ0=0;QD=32.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SELL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236147 GT:AD:DP:GQ:PL 1/1:0,43:43:99:1446,111,0
1 169694695 rs3917434 C T 131.74 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.93;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SELE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367774 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:164,12,0
1 169698442 rs79478039 G T 523.04 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.314;DB;DP=36;Dels=0.0;FS=3.0;HRun=1;HaplotypeScore=0.0;MQ=58.71;MQ0=0;MQRankSum=0.479;QD=14.53;ReadPosRankSum=-0.644;SNPEFF_AMINO_ACID_CHANGE=F263L;SNPEFF_CODON_CHANGE=ttC/ttA;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_169698327_169698515;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SELE;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367775 GT:AD:DP:GQ:PL 0/1:18,18:36:99:553,0,509
1 169698825 rs1534904 T G 2385.58 PASS AC=2;AF=1.00;AN=2;DB;DP=72;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.1277;MQ=60.0;MQ0=0;QD=33.13;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SELE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461085 GT:AD:DP:GQ:PL 1/1:0,72:72:99:2419,187,0
1 169698921 rs2076059 C T 493.91 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.28;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SELE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461085 GT:AD:DP:GQ:PL 1/1:0,14:14:42.12:527,42,0
1 169699819 rs3917419 G A 554.49 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.66;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SELE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461085 GT:AD:DP:GQ:PL 1/1:0,16:16:45.15:587,45,0
1 169762807 rs10489177 T G 578.12 PASS AB=0.574;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.626;DB;DP=47;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9966;MQ=59.51;MQ0=0;MQRankSum=0.247;QD=12.3;ReadPosRankSum=-0.204;SNPEFF_AMINO_ACID_CHANGE=E10D;SNPEFF_CODON_CHANGE=gaA/gaC;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_169761670_169763038;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=METTL18;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000303469 GT:AD:DP:GQ:PL 0/1:27,20:47:99:608,0,887
1 169797127 rs6427223 G A 287.17 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.344;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.07;QD=10.26;ReadPosRankSum=-0.627;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C1orf112;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456684 GT:AD:DP:GQ:PL 0/1:16,12:28:99:317,0,580
1 169798745 rs17529513 C G 98.78 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=7;Dels=0.0;FS=3.68;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.937;QD=14.11;ReadPosRankSum=1.754;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C1orf112;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456684 GT:AD:DP:GQ:PL 0/1:3,4:7:94.94:129,0,95
1 169818880 rs2272918 G A 156.92 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.38;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCYL3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367770 GT:AD:DP:GQ:PL 1/1:0,5:5:15.03:190,15,0
1 169819605 rs6664099 A G 92.43 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.81;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCYL3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367770 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:124,9,0
1 169823660 rs1062976 C T 1406.02 PASS AB=0.457;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.607;DB;DP=92;Dels=0.0;FS=2.835;HRun=0;HaplotypeScore=0.5784;MQ=59.75;MQ0=0;MQRankSum=-0.098;QD=15.28;ReadPosRankSum=-0.733;SNPEFF_AMINO_ACID_CHANGE=V586;SNPEFF_CODON_CHANGE=gtG/gtA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_169823411_169824105;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCYL3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367771 GT:AD:DP:GQ:PL 0/1:42,50:92:99:1436,0,1295
1 169823718 rs4656197 T C 2868.48 PASS AC=2;AF=1.00;AN=2;DB;DP=83;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=59.72;MQ0=0;QD=34.56;SNPEFF_AMINO_ACID_CHANGE=Q567R;SNPEFF_CODON_CHANGE=cAa/cGa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_169823411_169824105;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCYL3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367771 GT:AD:DP:GQ:PL 1/1:1,82:83:99:2901,238,0
1 169831690 rs5778632 CTCTT C 3278.85 PASS AB=0.676;AC=1;AF=0.50;AN=2;BaseQRankSum=8.26;DB;DP=143;FS=6.839;HRun=0;HaplotypeScore=681.5968;IndelType=D;MQ=57.36;MQ0=1;MQRankSum=-0.739;QD=22.77;ReadPosRankSum=0.168;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCYL3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367770 GT:AD:DP:GQ:PL 0/1:75,69:143:99:3279,0,5071
1 169831993 rs7525259 A G 500.35 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.27;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCYL3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367770 GT:AD:DP:GQ:PL 1/1:0,16:16:42.13:533,42,0
1 169833822 rs1883436 T C 147.63 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.45;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCYL3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367770 GT:AD:DP:GQ:PL 1/1:0,8:8:15.05:180,15,0
1 169835950 rs12133843 A C 307.04 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.12;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCYL3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367770 GT:AD:DP:GQ:PL 1/1:0,9:9:24.08:340,24,0
1 169838278 rs17603022 G A 100.94 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.495;DB;DP=7;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.9469;MQ=56.62;MQ0=0;MQRankSum=0.922;QD=14.42;ReadPosRankSum=0.922;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCYL3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367770 GT:AD:DP:GQ:PL 0/1:2,5:7:65.41:131,0,65
1 169839595 rs10919260 A G 192.12 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=1.422;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.573;QD=21.35;ReadPosRankSum=-0.573;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCYL3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367770 GT:AD:DP:GQ:PL 0/1:3,6:9:91.45:222,0,91
1 169847683 rs6683056 G A 687 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.16;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCYL3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367770 GT:AD:DP:GQ:PL 1/1:0,19:19:54.18:720,54,0
1 169890933 rs518928 A G 392.97 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIFAP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361580 GT:AD:DP:GQ:PL 1/1:0,14:14:36.11:426,36,0
1 169930049 rs542570 C T 193.65 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.21;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIFAP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361580 GT:AD:DP:GQ:PL 1/1:0,8:8:24.01:227,24,0
1 169930051 rs615485 T C 188.09 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.51;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIFAP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361580 GT:AD:DP:GQ:PL 1/1:0,8:8:24.01:221,24,0
1 169941761 rs511443 A T 565.69 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.43;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIFAP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361580 GT:AD:DP:GQ:PL 1/1:0,18:18:45.14:599,45,0
1 169947146 rs11396984 C CA 291.60 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.248;DB;DP=16;FS=0.0;HRun=11;HaplotypeScore=88.675;IndelType=I;MQ=59.24;MQ0=0;MQRankSum=-0.248;QD=18.23;ReadPosRankSum=-0.744;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIFAP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361580 GT:AD:DP:GQ:PL 1/1:3,13:16:16.27:333,16,0
1 169951748 rs638486 A G 811.65 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.07;MQ0=0;QD=32.47;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIFAP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361580 GT:AD:DP:GQ:PL 1/1:0,25:25:72.21:845,72,0
1 169952385 rs2057249 G T 521.81 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.79;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIFAP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361580 GT:AD:DP:GQ:PL 1/1:0,15:15:42.14:555,42,0
1 170001151 rs11277624 ATACTCATT A 2112.96 PASS AB=0.658;AC=1;AF=0.50;AN=2;BaseQRankSum=6.049;DB;DP=50;FS=0.0;HRun=0;HaplotypeScore=382.7826;IndelType=D;MQ=47.54;MQ0=0;MQRankSum=-5.602;QD=42.26;ReadPosRankSum=1.427;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIFAP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000490550 GT:AD:DP:GQ:PL 0/1:24,26:50:99:2152,0,3018
1 170004508 rs12750962 A T 160.14 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.047;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.467;QD=13.34;ReadPosRankSum=1.191;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIFAP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000490550 GT:AD:DP:GQ:PL 0/1:6,6:12:99:190,0,218
1 170015700 rs7555871 T C 282.42 PASS AB=0.412;AC=1;AF=0.50;AN=2;BaseQRankSum=1.61;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=2.489;QD=16.61;ReadPosRankSum=-0.732;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIFAP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361580 GT:AD:DP:GQ:PL 0/1:7,10:17:99:312,0,239
1 170135430 rs111301492 A G 85.89 MQFilter40 AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.731;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=29.0;MQ0=0;MQRankSum=0.731;QD=14.32;ReadPosRankSum=0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=METTL11B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000439373 GT:AD:DP:GQ:PL 0/1:1,5:6:18.39:116,0,18
1 170135434 rs111283972 T C 85.69 MQFilter40 AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=0.922;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=29.0;MQ0=0;MQRankSum=0.198;QD=12.24;ReadPosRankSum=0.922;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=METTL11B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000439373 GT:AD:DP:GQ:PL 0/1:2,5:7:48.82:116,0,49
1 170135447 rs71125230 A AT 129.70 PASS AB=0.722;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.016;DB;DP=13;FS=0.0;HRun=8;HaplotypeScore=100.758;IndelType=I;MQ=29.0;MQ0=0;MQRankSum=-1.2;QD=9.98;ReadPosRankSum=-1.093;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=METTL11B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000439373 GT:AD:DP:GQ:PL 0/1:8,5:13:99:169,0,152
1 170135510 rs576572 T C 669.06 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=40.5;MQ0=0;QD=29.09;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=METTL11B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000439373 GT:AD:DP:GQ:PL 1/1:0,22:22:60.17:702,60,0
1 170135669 rs6427234 C T 1436 PASS AB=0.51;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.332;DB;DP=104;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9734;MQ=57.71;MQ0=0;MQRankSum=-0.072;QD=13.81;ReadPosRankSum=-1.086;SNPEFF_AMINO_ACID_CHANGE=C119;SNPEFF_CODON_CHANGE=tgC/tgT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_170135643_170135892;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=METTL11B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000439373 GT:AD:DP:GQ:PL 0/1:53,51:104:99:1466,0,1591
1 170135693 rs41272485 A G 1307.82 PASS AB=0.536;AC=1;AF=0.50;AN=2;BaseQRankSum=2.275;DB;DP=97;Dels=0.0;FS=0.773;HRun=2;HaplotypeScore=0.9332;MQ=58.02;MQ0=0;MQRankSum=0.698;QD=13.48;ReadPosRankSum=2.376;SNPEFF_AMINO_ACID_CHANGE=I127M;SNPEFF_CODON_CHANGE=atA/atG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_170135643_170135892;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=METTL11B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000439373 GT:AD:DP:GQ:PL 0/1:52,45:97:99:1338,0,1704
1 170135760 rs6427235 T C 1180.81 PASS AB=0.59;AC=1;AF=0.50;AN=2;BaseQRankSum=1.235;DB;DP=106;Dels=0.0;FS=2.6;HRun=2;HaplotypeScore=11.2802;MQ=58.95;MQ0=0;MQRankSum=0.714;QD=11.14;ReadPosRankSum=-1.535;SNPEFF_AMINO_ACID_CHANGE=S150P;SNPEFF_CODON_CHANGE=Tcc/Ccc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_170135643_170135892;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=METTL11B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000439373 GT:AD:DP:GQ:PL 0/1:62,43:106:99:1211,0,2079
1 170135828 rs41272487 C T 1900.66 PASS AB=0.463;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.037;DB;DP=122;Dels=0.0;FS=0.674;HRun=0;HaplotypeScore=2.559;MQ=59.62;MQ0=0;MQRankSum=-0.465;QD=15.58;ReadPosRankSum=-2.285;SNPEFF_AMINO_ACID_CHANGE=Y172;SNPEFF_CODON_CHANGE=taC/taT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_170135643_170135892;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=METTL11B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000439373 GT:AD:DP:GQ:PL 0/1:56,65:122:99:1931,0,1725
1 170136787 rs12075997 C T 295.54 PASS AB=0.231;AC=1;AF=0.50;AN=2;BaseQRankSum=0.254;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.93;QD=22.73;ReadPosRankSum=-1.099;SNPEFF_AMINO_ACID_CHANGE=S247;SNPEFF_CODON_CHANGE=agC/agT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_170136627_170136931;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=METTL11B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000439373 GT:AD:DP:GQ:PL 0/1:3,10:13:81.79:326,0,82
1 170501385 rs7531125 A C 1826.29 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.12;SNPEFF_AMINO_ACID_CHANGE=G32;SNPEFF_CODON_CHANGE=ggA/ggC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_170501272_170501425;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GORAB;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367762 GT:AD:DP:GQ:PL 1/1:0,52:52:99:1859,138,0
1 170501521 rs112197426 AC A 332.67 PASS AB=0.607;AC=1;AF=0.50;AN=2;BaseQRankSum=3.2;DB;DP=17;FS=0.0;HRun=1;HaplotypeScore=45.7466;IndelType=D;MQ=59.28;MQ0=0;MQRankSum=0.38;QD=19.57;ReadPosRankSum=2.874;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GORAB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367762 GT:AD:DP:GQ:PL 0/1:6,11:17:99:372,0,239
1 170508755 rs5778667 G GT 427.69 PASS AB=0.706;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.776;DB;DP=36;FS=0.0;HRun=6;HaplotypeScore=93.8746;IndelType=I;MQ=60.6;MQ0=0;MQRankSum=-0.302;QD=11.88;ReadPosRankSum=-0.566;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GORAB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367762 GT:AD:DP:GQ:PL 0/1:21,15:36:99:467,0,422
1 170511604 rs7538037 T C 3170.47 PASS AC=2;AF=1.00;AN=2;DB;DP=89;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.74;MQ0=0;QD=35.62;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GORAB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465717 GT:AD:DP:GQ:PL 1/1:0,89:89:99:3203,244,0
1 170521376 rs913257 G A 785.84 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=1.037;DB;DP=44;Dels=0.0;FS=2.932;HRun=2;HaplotypeScore=3.4896;MQ=59.48;MQ0=0;MQRankSum=-0.305;QD=17.86;ReadPosRankSum=0.525;SNPEFF_AMINO_ACID_CHANGE=E320K;SNPEFF_CODON_CHANGE=Gaa/Aaa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_170521156_170522587;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GORAB;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367763 GT:AD:DP:GQ:PL 0/1:16,28:44:99:816,0,470
1 170521650 rs7552922 T G 357.33 PASS AB=0.548;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.766;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.179;QD=11.53;ReadPosRankSum=-0.298;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GORAB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475113 GT:AD:DP:GQ:PL 0/1:17,14:31:99:387,0,567
1 170967395 rs151291051 G A 827.97 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.957;DB;DP=62;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.33;MQ0=0;MQRankSum=-0.436;QD=13.35;ReadPosRankSum=-0.253;SNPEFF_AMINO_ACID_CHANGE=V526I;SNPEFF_CODON_CHANGE=Gta/Ata;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_170967295_170967947;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf129;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367758 GT:AD:DP:GQ:PL 0/1:31,31:62:99:858,0,993
1 171061990 rs2064074 A G 262.15 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=2.18;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9867;MQ=60.0;MQ0=0;MQRankSum=-0.289;QD=21.85;ReadPosRankSum=-1.599;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMO3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367755 GT:AD:DP:GQ:PL 0/1:4,8:12:99:292,0,118
1 171076966 rs2266782 G A 711.90 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.431;DB;DP=54;Dels=0.0;FS=1.082;HRun=4;HaplotypeScore=0.734;MQ=59.57;MQ0=0;MQRankSum=0.046;QD=13.18;ReadPosRankSum=0.597;SNPEFF_AMINO_ACID_CHANGE=E138K;SNPEFF_CODON_CHANGE=Gag/Aag;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_171076816_171076978;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMO3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000542847 GT:AD:DP:GQ:PL 0/1:24,30:54:99:742,0,719
1 171077198 rs1920149 G A 983.44 PASS AB=0.46;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.737;DB;DP=63;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=0.724;QD=15.61;ReadPosRankSum=-1.193;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMO3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472784 GT:AD:DP:GQ:PL 0/1:29,34:63:99:1013,0,955
1 171077372 rs2066534 C G 470.86 PASS AB=0.379;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.101;DB;DP=29;Dels=0.0;FS=5.711;HRun=0;HaplotypeScore=1.9328;MQ=60.0;MQ0=0;MQRankSum=-0.112;QD=16.24;ReadPosRankSum=-0.562;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMO3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472784 GT:AD:DP:GQ:PL 0/1:11,18:29:99:501,0,373
1 171112490 rs1736565 C T 701.58 PASS AB=0.591;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.631;DB;DP=66;Dels=0.0;FS=4.054;HRun=0;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=-0.566;QD=10.63;ReadPosRankSum=0.619;SNPEFF_AMINO_ACID_CHANGE=Q105*;SNPEFF_CODON_CHANGE=Cag/Tag;SNPEFF_EFFECT=STOP_GAINED;SNPEFF_EXON_ID=exon_1_171112310_171112498;SNPEFF_FUNCTIONAL_CLASS=NONSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=FMO6P;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000236166 GT:AD:DP:GQ:PL 0/1:39,27:66:99:732,0,1243
1 171112621 rs9663011 C G 106.03 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=1.652;DB;DP=9;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.361;QD=11.78;ReadPosRankSum=1.159;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=FMO6P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236166 GT:AD:DP:GQ:PL 0/1:5,4:9:99:136,0,163
1 171119021 rs1795244 T C 59.33 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=1.307;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9783;MQ=54.65;MQ0=0;MQRankSum=-0.876;QD=6.59;ReadPosRankSum=-0.361;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=FMO6P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236166 GT:AD:DP:GQ:PL 0/1:5,4:9:89.32:89,0,160
1 171120956 rs7882954 C G 399.92 PASS AB=0.478;AC=1;AF=0.50;AN=2;BaseQRankSum=1.016;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.708;QD=17.39;ReadPosRankSum=0.277;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=FMO6P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236166 GT:AD:DP:GQ:PL 0/1:11,12:23:99:430,0,341
1 171130598 rs56674917 CACACA C 1706.21 PASS AB=0.641;AC=1;AF=0.50;AN=2;BaseQRankSum=4.818;DB;DP=50;FS=0.0;HRun=0;HaplotypeScore=288.2682;IndelType=D;MQ=54.18;MQ0=0;MQRankSum=-1.95;QD=34.12;ReadPosRankSum=-0.273;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=FMO6P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236166 GT:AD:DP:GQ:PL 0/1:22,28:50:99:1745,0,1849
1 171155103 rs6657314 C T 449.96 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=1.729;DB;DP=24;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.03;MQ0=0;MQRankSum=0.716;QD=18.75;ReadPosRankSum=1.491;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMO2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000209929 GT:AD:DP:GQ:PL 0/1:9,15:24:99:480,0,257
1 171165661 rs7516877 A G 65.96 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.754;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.55;QD=9.42;ReadPosRankSum=-0.937;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMO2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462643 GT:AD:DP:GQ:PL 0/1:4,3:7:95.95:96,0,149
1 171168545 rs2307492 T C 826.60 PASS AB=0.483;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.797;DB;DP=60;Dels=0.0;FS=12.059;HRun=0;HaplotypeScore=0.5784;MQ=59.62;MQ0=0;MQRankSum=0.842;QD=13.78;ReadPosRankSum=0.235;SNPEFF_AMINO_ACID_CHANGE=F182S;SNPEFF_CODON_CHANGE=tTt/tCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_171168485_171168627;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMO2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000209929 GT:AD:DP:GQ:PL 0/1:29,31:60:99:857,0,973
1 171168585 rs2020861 A G 677.24 PASS AB=0.49;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.404;DB;DP=51;Dels=0.0;FS=2.512;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.33;QD=13.28;ReadPosRankSum=-1.498;SNPEFF_AMINO_ACID_CHANGE=S195;SNPEFF_CODON_CHANGE=tcA/tcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_171168485_171168627;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMO2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000209929 GT:AD:DP:GQ:PL 0/1:25,26:51:99:707,0,884
1 171168804 rs2075987 A C 151.93 PASS AB=0.125;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.747;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=-0.747;QD=18.99;ReadPosRankSum=0.747;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMO2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000483192 GT:AD:DP:GQ:PL 0/1:1,7:8:19.61:182,0,20
1 171178152 rs2020869 A G 674.83 PASS AB=0.532;AC=1;AF=0.50;AN=2;BaseQRankSum=1.205;DB;DP=48;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=4.4921;MQ=59.52;MQ0=0;MQRankSum=0.203;QD=14.06;ReadPosRankSum=0.693;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMO2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000488431 GT:AD:DP:GQ:PL 0/1:25,22:48:99:705,0,775
1 171227216 rs10912675 T C 370.34 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.589;DB;DP=30;Dels=0.0;FS=2.341;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-2.466;QD=12.34;ReadPosRankSum=-1.898;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367750 GT:AD:DP:GQ:PL 0/1:16,14:30:99:400,0,525
1 171244759 rs2076320 A C 183.62 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.399;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.073;QD=7.65;ReadPosRankSum=-0.179;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000459868 GT:AD:DP:GQ:PL 0/1:15,9:24:99:214,0,511
1 171300959 rs2294482 T C 1341.70 PASS AB=0.382;AC=1;AF=0.50;AN=2;BaseQRankSum=2.48;DB;DP=76;Dels=0.0;FS=3.745;HRun=1;HaplotypeScore=1.663;MQ=59.09;MQ0=0;MQRankSum=-0.244;QD=17.65;ReadPosRankSum=-0.432;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FMO4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367749 GT:AD:DP:GQ:PL 0/1:29,47:76:99:1372,0,874
1 171301033 rs2294483 C G 850.37 HaplotypeScoreFilter13 AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=20.9135;MQ=57.94;MQ0=0;QD=25.01;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FMO4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367749 GT:AD:DP:GQ:PL 1/1:0,33:34:78.13:883,78,0
1 171301043 rs71103398 G GA 460.19 PASS AB=0.596;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.503;DB;DP=31;FS=0.0;HRun=12;HaplotypeScore=234.012;IndelType=I;MQ=56.96;MQ0=0;MQRankSum=2.285;QD=14.84;ReadPosRankSum=0.116;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FMO4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367749 GT:AD:DP:GQ:PL 0/1:10,20:31:1.39:498,0,1
1 171302094 rs4140632 A C 566.61 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.33;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FMO4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367749 GT:AD:DP:GQ:PL 1/1:0,17:17:45.14:600,45,0
1 171302108 . T C 259.59 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.134;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.6;QD=21.63;ReadPosRankSum=0.929;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FMO4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367749 GT:AD:DP:GQ:PL 0/1:4,8:12:99:290,0,133
1 171303925 rs3820170 C T 852.63 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.42;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FMO4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462992 GT:AD:DP:GQ:PL 1/1:0,30:30:66.22:886,66,0
1 171311003 rs1042772 A C 405.81 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.83;MQ0=0;QD=25.36;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FMO4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475780 GT:AD:DP:GQ:PL 1/1:0,16:16:36.09:439,36,0
1 171505019 . G T 527.75 PASS AB=0.596;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.77;DP=47;Dels=0.0;FS=1.954;HRun=6;HaplotypeScore=1.4538;MQ=60.0;MQ0=0;MQRankSum=-1.42;QD=11.23;ReadPosRankSum=0.033;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRRC2C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000476522 GT:AD:DP:GQ:PL 0/1:28,19:47:99:558,0,885
1 171514848 . T TTTTA 274.25 PASS AB=0.828;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.652;DP=24;FS=0.0;HRun=0;HaplotypeScore=115.5727;IndelType=I;MQ=58.65;MQ0=0;MQRankSum=0.361;QD=11.43;ReadPosRankSum=-0.729;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRRC2C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000338920 GT:AD:DP:GQ:PL 0/1:18,5:24:99:313,0,142
1 171557699 . C G 359.67 PASS AB=0.632;AC=1;AF=0.50;AN=2;BaseQRankSum=0.207;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.39;MQ0=0;MQRankSum=0.048;QD=9.46;ReadPosRankSum=-0.239;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRRC2C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000338920 GT:AD:DP:GQ:PL 0/1:24,14:38:99:390,0,800
1 171607702 rs2032555 C T 1737.86 PASS AB=0.55;AC=1;AF=0.50;AN=2;BaseQRankSum=2.503;DB;DP=151;Dels=0.0;FS=0.619;HRun=0;HaplotypeScore=0.5784;MQ=59.85;MQ0=0;MQRankSum=0.659;QD=11.51;ReadPosRankSum=-1.186;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYOC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000037502 GT:AD:DP:GQ:PL 0/1:83,68:151:99:1768,0,2422
1 171673749 rs3835498 AT A 176.78 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=2.843;DB;DP=12;FS=0.0;HRun=1;HaplotypeScore=27.5334;IndelType=D;MQ=60.0;MQ0=0;MQRankSum=-0.583;QD=14.73;ReadPosRankSum=-0.259;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VAMP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236192 GT:AD:DP:GQ:PL 0/1:6,6:12:99:216,0,252
1 171679958 rs10913530 G A 1157.36 PASS AB=0.481;AC=1;AF=0.50;AN=2;BaseQRankSum=1.952;DB;DP=77;Dels=0.0;FS=2.184;HRun=1;HaplotypeScore=2.8932;MQ=59.7;MQ0=0;MQRankSum=-0.811;QD=15.03;ReadPosRankSum=0.28;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VAMP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236192 GT:AD:DP:GQ:PL 0/1:37,40:77:99:1187,0,1214
1 171751051 rs2294719 A G 1418.54 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.6;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=METTL13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000362019 GT:AD:DP:GQ:PL 1/1:0,41:41:99:1452,111,0
1 171751236 rs2294720 T C 1540.77 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.24;SNPEFF_AMINO_ACID_CHANGE=H42;SNPEFF_CODON_CHANGE=caT/caC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_171751128_171751260;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=METTL13;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000458517 GT:AD:DP:GQ:PL 1/1:0,45:45:99:1574,117,0
1 171751416 rs7541128 G A 157.71 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.28;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=METTL13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361735 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:190,15,0
1 171751439 rs6425415 A G 47.98 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.99;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=METTL13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361735 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
1 171753039 rs2232816 A G 648.23 PASS AB=0.422;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.971;DB;DP=45;Dels=0.0;FS=14.833;HRun=0;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=0.592;QD=14.41;ReadPosRankSum=-0.355;SNPEFF_AMINO_ACID_CHANGE=M104V;SNPEFF_CODON_CHANGE=Atg/Gtg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_171752880_171753639;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=METTL13;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000458517 GT:AD:DP:GQ:PL 0/1:19,26:45:99:678,0,641
1 171755071 rs17650204 A G 176.47 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=1.0;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.529;QD=14.71;ReadPosRankSum=-0.831;SNPEFF_AMINO_ACID_CHANGE=K166;SNPEFF_CODON_CHANGE=aaA/aaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_171755027_171755218;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=METTL13;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367737 GT:AD:DP:GQ:PL 0/1:5,7:12:99:206,0,128
1 171755182 rs2232819 G A 109.31 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=0.38;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.135;QD=9.11;ReadPosRankSum=-1.134;SNPEFF_AMINO_ACID_CHANGE=M203I;SNPEFF_CODON_CHANGE=atG/atA;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_171755027_171755218;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=METTL13;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367737 GT:AD:DP:GQ:PL 0/1:7,5:12:99:139,0,221
1 171761458 rs2232824 T C 305.05 PASS AB=0.231;AC=1;AF=0.50;AN=2;BaseQRankSum=0.423;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.8055;MQ=58.2;MQ0=0;MQRankSum=1.437;QD=23.47;ReadPosRankSum=0.761;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=METTL13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478330 GT:AD:DP:GQ:PL 0/1:3,10:13:87.99:335,0,88
1 171763549 rs2232825 C T 277.93 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=0.564;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.28;MQ0=0;MQRankSum=-0.214;QD=8.69;ReadPosRankSum=-1.07;SNPEFF_AMINO_ACID_CHANGE=Y266;SNPEFF_CODON_CHANGE=taC/taT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_171763536_171763667;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=METTL13;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000341850 GT:AD:DP:GQ:PL 0/1:20,12:32:99:308,0,706
1 171765964 rs1801898 A G 231.88 PASS AB=0.529;AC=1;AF=0.50;AN=2;BaseQRankSum=1.491;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9997;MQ=60.0;MQ0=0;MQRankSum=-0.433;QD=13.64;ReadPosRankSum=-0.722;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=METTL13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466643 GT:AD:DP:GQ:PL 0/1:9,8:17:99:262,0,310
1 172011059 rs3736791 G A 438.20 PASS AB=0.596;AC=1;AF=0.50;AN=2;BaseQRankSum=0.825;DB;DP=47;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=59.11;MQ0=0;MQRankSum=-0.156;QD=9.32;ReadPosRankSum=-2.543;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNM3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355305 GT:AD:DP:GQ:PL 0/1:28,19:47:99:468,0,986
1 172018052 rs2295611 T A 320.43 PASS AB=0.45;AC=1;AF=0.50;AN=2;BaseQRankSum=2.279;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9999;MQ=57.88;MQ0=0;MQRankSum=-0.836;QD=16.02;ReadPosRankSum=1.975;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNM3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355305 GT:AD:DP:GQ:PL 0/1:9,11:20:99:350,0,308
1 172038079 rs12760234 T C 260.86 PASS AB=0.609;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.102;DB;DP=23;Dels=0.0;FS=2.993;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.661;QD=11.34;ReadPosRankSum=-1.795;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNM3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355305 GT:AD:DP:GQ:PL 0/1:14,9:23:99:291,0,468
1 172051262 rs141269413 A C 36.51 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=12.17;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNM3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355305 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:68,6,0
1 172100596 rs2421986 G T 63.70 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=0.322;DB;DP=8;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.8667;MQ=57.05;MQ0=0;MQRankSum=0.684;QD=7.96;ReadPosRankSum=-0.322;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNM3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355305 GT:AD:DP:GQ:PL 0/1:5,3:8:93.69:94,0,158
1 172100831 rs2421987 G A 91.26 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=1.307;DB;DP=9;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=57.39;MQ0=0;MQRankSum=-0.729;QD=10.14;ReadPosRankSum=0.361;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNM3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355305 GT:AD:DP:GQ:PL 0/1:5,4:9:99:121,0,182
1 172277845 . AT A 404.20 PASS AB=0.608;AC=1;AF=0.50;AN=2;BaseQRankSum=2.177;DP=48;FS=3.998;HRun=14;HaplotypeScore=168.8635;IndelType=D;MQ=58.55;MQ0=0;MQRankSum=1.524;QD=8.42;ReadPosRankSum=-0.762;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNM3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355305 GT:AD:DP:GQ:PL 0/1:17,29:48:99:443,0,233
1 172356437 rs6688654 A G 2757.65 PASS AC=2;AF=1.00;AN=2;DB;DP=87;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=5.0027;MQ=59.47;MQ0=0;QD=31.7;SNPEFF_AMINO_ACID_CHANGE=T110;SNPEFF_CODON_CHANGE=acA/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_172356273_172356499;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNM3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000485254 GT:AD:DP:GQ:PL 1/1:0,87:87:99:2791,223,0
1 172356582 rs2269612 G A 554.10 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.75;MQ0=0;QD=36.94;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNM3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355305 GT:AD:DP:GQ:PL 1/1:0,15:15:45.15:587,45,0
1 172362744 rs10688277 A AAAG 5123.81 PASS AC=2;AF=1.00;AN=2;DB;DP=80;FS=0.0;HRun=0;HaplotypeScore=221.7944;IndelType=I;MQ=54.49;MQ0=0;QD=64.05;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNM3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491124 GT:AD:DP:GQ:PL 1/1:7,71:80:99:5124,235,0
1 172362949 rs3768445 G T 1603.91 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.0;FS=0.0;HRun=7;HaplotypeScore=0.8321;MQ=58.73;MQ0=0;QD=29.16;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNM3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491124 GT:AD:DP:GQ:PL 1/1:0,55:55:99:1637,135,0
1 172376809 rs9425600 T C 931.34 PASS AB=0.451;AC=1;AF=0.50;AN=2;BaseQRankSum=2.016;DB;DP=51;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.55;MQ0=0;MQRankSum=0.18;QD=18.26;ReadPosRankSum=-0.18;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNM3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355305 GT:AD:DP:GQ:PL 0/1:23,28:51:99:961,0,758
1 172410967 rs1063412 G A 1097.98 PASS AB=0.457;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.399;DB;DP=70;Dels=0.0;FS=4.989;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.798;QD=15.69;ReadPosRankSum=-0.925;SNPEFF_AMINO_ACID_CHANGE=P266S;SNPEFF_CODON_CHANGE=Cca/Tca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_172410598_172411993;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PIGC;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000258324 GT:AD:DP:GQ:PL 0/1:32,38:70:99:1128,0,1034
1 172411496 rs2230471 A G 4506.74 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.04;DB;DP=132;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.86;MQ0=0;MQRankSum=-1.626;QD=34.14;ReadPosRankSum=0.965;SNPEFF_AMINO_ACID_CHANGE=G89;SNPEFF_CODON_CHANGE=ggT/ggC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_172410598_172411993;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PIGC;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000258324 GT:AD:DP:GQ:PL 1/1:1,131:132:99:4507,301,0
1 172411768 rs13932 T C 789.82 PASS AB=0.595;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.042;DB;DP=74;Dels=0.0;FS=1.021;HRun=2;HaplotypeScore=0.9996;MQ=60.0;MQ0=0;MQRankSum=0.479;QD=10.67;ReadPosRankSum=1.206;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf105;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367727 GT:AD:DP:GQ:PL 0/1:44,30:74:99:820,0,1480
1 172417781 rs2157451 A G 375.74 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.57;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf105;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367727 GT:AD:DP:GQ:PL 1/1:0,10:10:30.10:409,30,0
1 172422209 rs2285175 C T 1159.07 PASS AB=0.424;AC=1;AF=0.50;AN=2;BaseQRankSum=0.357;DB;DP=66;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.954;QD=17.56;ReadPosRankSum=0.707;SNPEFF_AMINO_ACID_CHANGE=V16;SNPEFF_CODON_CHANGE=gtC/gtT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_172422033_172422329;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf105;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367725 GT:AD:DP:GQ:PL 0/1:28,38:66:99:1189,0,867
1 172425529 rs2285170 C G 857.62 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.475;DB;DP=91;Dels=0.0;FS=0.896;HRun=0;HaplotypeScore=1.7803;MQ=59.49;MQ0=0;MQRankSum=0.827;QD=9.42;ReadPosRankSum=-1.624;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf105;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367725 GT:AD:DP:GQ:PL 0/1:56,35:91:99:888,0,1612
1 172431210 rs4916261 G A 284.32 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.59;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf105;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367725 GT:AD:DP:GQ:PL 1/1:0,9:9:24.08:317,24,0
1 172434375 rs2901655 G A 607.40 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.23;MQ0=0;QD=35.73;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf105;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367725 GT:AD:DP:GQ:PL 1/1:0,17:17:48.15:640,48,0
1 172437592 rs1129942 G A 5114.25 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.612;DB;DP=155;Dels=0.0;FS=8.665;HRun=3;HaplotypeScore=1.8606;MQ=59.1;MQ0=0;MQRankSum=-0.717;QD=33.0;ReadPosRankSum=-0.454;SNPEFF_AMINO_ACID_CHANGE=S127N;SNPEFF_CODON_CHANGE=aGc/aAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_172437589_172437971;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf105;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367725 GT:AD:DP:GQ:PL 1/1:3,152:155:99:5114,326,0
1 172501643 rs2239816 T C 632.53 PASS AB=0.439;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.013;DB;DP=41;Dels=0.0;FS=1.262;HRun=1;HaplotypeScore=1.7287;MQ=59.44;MQ0=0;MQRankSum=-0.486;QD=15.43;ReadPosRankSum=-1.222;SNPEFF_AMINO_ACID_CHANGE=S11P;SNPEFF_CODON_CHANGE=Tct/Cct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_172501489_172501941;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf9;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367723 GT:AD:DP:GQ:PL 0/1:18,23:41:99:663,0,522
1 172502041 rs10798043 A G 320.44 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.13;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367723 GT:AD:DP:GQ:PL 1/1:0,11:11:27.09:353,27,0
1 172502479 rs2285144 T C 114.52 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=55.21;MQ0=0;QD=22.9;SNPEFF_AMINO_ACID_CHANGE=I164;SNPEFF_CODON_CHANGE=atT/atC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_172502317_172502637;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf9;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367723 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:147,12,0
1 172522602 rs1159378 G A 202.48 PASS AB=0.632;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.38;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.38;QD=10.66;ReadPosRankSum=0.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263688 GT:AD:DP:GQ:PL 0/1:12,7:19:99:232,0,431
1 172539442 rs3752515 A G 217.05 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.17;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263688 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:250,18,0
1 172547465 rs2285664 A G 414.34 PASS AB=0.548;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.553;DB;DP=31;Dels=0.0;FS=1.446;HRun=0;HaplotypeScore=0.9998;MQ=60.0;MQ0=0;MQRankSum=1.449;QD=13.37;ReadPosRankSum=0.298;SNPEFF_AMINO_ACID_CHANGE=E456;SNPEFF_CODON_CHANGE=gaA/gaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_172547438_172547529;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf9;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000263688 GT:AD:DP:GQ:PL 0/1:17,14:31:99:444,0,484
1 172548301 rs41264544 C G 500.26 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.298;DB;DP=24;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9973;MQ=60.0;MQ0=0;MQRankSum=-0.298;QD=20.84;ReadPosRankSum=0.596;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263688 GT:AD:DP:GQ:PL 0/1:9,15:24:99:530,0,304
1 172554867 rs10752995 T A 348.37 PASS AB=0.581;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.222;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.25;MQ0=0;MQRankSum=-0.42;QD=11.24;ReadPosRankSum=-0.54;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263688 GT:AD:DP:GQ:PL 0/1:18,13:31:99:378,0,656
1 172558524 rs41264546 A G 388.05 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.754;DB;DP=36;Dels=0.0;FS=11.467;HRun=0;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=-0.462;QD=10.78;ReadPosRankSum=-2.499;SNPEFF_AMINO_ACID_CHANGE=P761;SNPEFF_CODON_CHANGE=ccA/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_172557900_172559066;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf9;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000263688 GT:AD:DP:GQ:PL 0/1:20,16:36:99:418,0,679
1 172633350 rs5030772 A G 103.29 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.04;MQ0=0;MQRankSum=0.72;QD=17.21;ReadPosRankSum=-1.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FASLG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340030 GT:AD:DP:GQ:PL 0/1:2,4:6:53.33:133,0,53
1 172634734 rs2639653 T C 1518.95 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.42;MQ0=0;QD=31.64;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FASLG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340030 GT:AD:DP:GQ:PL 1/1:0,48:48:99:1552,114,0
1 173020230 rs61761341 A AC 620.65 PASS AB=0.653;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.419;DB;DP=32;FS=0.0;HRun=0;HaplotypeScore=96.7139;IndelType=I;MQ=59.62;MQ0=0;MQRankSum=0.692;QD=19.4;ReadPosRankSum=1.206;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNFSF18;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000239468 GT:AD:DP:GQ:PL 0/1:15,17:32:99:660,0,536
1 173157541 rs17346501 T C 215.78 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.788;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.053;QD=13.49;ReadPosRankSum=-0.158;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNFSF4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000488053 GT:AD:DP:GQ:PL 0/1:8,8:16:99:246,0,285
1 173429995 rs12140760 G A 213.64 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.66;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.66;QD=15.26;ReadPosRankSum=0.101;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AL645568.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421168 GT:AD:DP:GQ:PL 0/1:7,7:14:99:244,0,163
1 173472551 rs10912625 T C 354.55 PASS AB=0.435;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.062;DB;DP=23;Dels=0.0;FS=3.424;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.093;QD=15.42;ReadPosRankSum=0.837;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367714 GT:AD:DP:GQ:PL 0/1:10,13:23:99:385,0,309
1 173474429 rs12026637 T C 345.39 PASS AB=0.519;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.043;DB;DP=28;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.17;MQ0=0;MQRankSum=-0.461;QD=12.34;ReadPosRankSum=1.14;SNPEFF_AMINO_ACID_CHANGE=Q1089;SNPEFF_CODON_CHANGE=caA/caG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_173474386_173474470;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A11;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367714 GT:AD:DP:GQ:PL 0/1:14,13:28:99:375,0,325
1 173493312 rs10912633 A G 30.53 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.38;QD=5.09;ReadPosRankSum=-0.72;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000536496 GT:AD:DP:GQ:PL 0/1:4,2:6:60.52:61,0,142
1 173493348 rs16846113 T C 42.05 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=4;Dels=0.0;FS=4.771;HRun=0;HaplotypeScore=0.0;MQ=53.95;MQ0=0;MQRankSum=0.736;QD=10.51;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000536496 GT:AD:DP:GQ:PL 0/1:2,2:4:31.62:72,0,32
1 173503037 rs10912635 A G 295.82 PASS AB=0.308;AC=1;AF=0.50;AN=2;BaseQRankSum=0.231;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.62;QD=22.76;ReadPosRankSum=-1.312;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367714 GT:AD:DP:GQ:PL 0/1:4,9:13:99:326,0,126
1 173503103 rs10912636 C T 157.48 PASS AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=26.25;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367714 GT:AD:DP:GQ:PL 0/1:1,5:6:21.95:187,0,22
1 173503864 rs10798285 A G 188.44 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=1.422;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.203;QD=20.94;ReadPosRankSum=0.573;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367714 GT:AD:DP:GQ:PL 0/1:3,6:9:92.35:218,0,92
1 173516871 rs16846206 G C 534.39 PASS AB=0.28;AC=1;AF=0.50;AN=2;BaseQRankSum=1.241;DB;DP=25;Dels=0.0;FS=4.669;HRun=1;HaplotypeScore=0.0;MQ=59.25;MQ0=0;MQRankSum=2.028;QD=21.38;ReadPosRankSum=-0.151;SNPEFF_AMINO_ACID_CHANGE=A403G;SNPEFF_CODON_CHANGE=gCt/gGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_173516828_173516923;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A11;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000536496 GT:AD:DP:GQ:PL 0/1:7,18:25:99:564,0,174
1 173516903 rs10494490 A G 445.33 PASS AB=0.385;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.133;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=-1.291;QD=17.13;ReadPosRankSum=0.87;SNPEFF_AMINO_ACID_CHANGE=N392;SNPEFF_CODON_CHANGE=aaT/aaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_173516828_173516923;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A11;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000536496 GT:AD:DP:GQ:PL 0/1:10,16:26:99:475,0,235
1 173524107 rs10912643 A G 114.05 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=0.198;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.922;QD=16.29;ReadPosRankSum=-0.922;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367714 GT:AD:DP:GQ:PL 0/1:2,5:7:65.46:144,0,65
1 173552529 rs7541082 A G 182.32 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.599;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.4;QD=10.13;ReadPosRankSum=-0.311;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367714 GT:AD:DP:GQ:PL 0/1:10,8:18:99:212,0,360
1 173552783 rs12032386 G A 831.02 PASS AB=0.532;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.353;DB;DP=62;Dels=0.0;FS=3.881;HRun=0;HaplotypeScore=0.9832;MQ=60.0;MQ0=0;MQRankSum=0.621;QD=13.4;ReadPosRankSum=-0.593;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367714 GT:AD:DP:GQ:PL 0/1:33,29:62:99:861,0,1058
1 173556699 rs301698 G T 216.52 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.09;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367714 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:249,18,0
1 173569176 rs17350830 T C 174.41 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=0.101;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.493;QD=13.42;ReadPosRankSum=-0.312;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367714 GT:AD:DP:GQ:PL 0/1:7,6:13:99:204,0,249
1 173594213 rs301701 T C 147.28 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.676;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.851;QD=14.73;ReadPosRankSum=-0.676;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD45;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000333279 GT:AD:DP:GQ:PL 0/1:5,5:10:99:177,0,175
1 173744660 rs72709402 C T 71.69 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=0.322;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.322;QD=8.96;ReadPosRankSum=0.322;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KLHL20;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000209884 GT:AD:DP:GQ:PL 0/1:5,3:8:99:102,0,168
1 173819421 rs67987090 C CA 40.55 QDFilter2 AB=0.808;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.926;DB;DP=21;FS=0.0;HRun=15;HaplotypeScore=100.8068;IndelType=I;MQ=56.0;MQ0=0;MQRankSum=-0.566;QD=1.93;ReadPosRankSum=-0.453;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DARS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000239457 GT:AD:DP:GQ:PL 0/1:14,5:21:79.58:80,0,139
1 173855208 rs16846520 A G 614 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.081;DB;DP=44;Dels=0.0;FS=5.519;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.474;QD=13.95;ReadPosRankSum=0.595;SNPEFF_AMINO_ACID_CHANGE=T394;SNPEFF_CODON_CHANGE=acA/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_173854774_173855680;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZBTB37;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367703 GT:AD:DP:GQ:PL 0/1:22,22:44:99:644,0,794
1 174188285 rs2103640 G A 556.89 PASS AB=0.612;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.843;DB;DP=49;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9832;MQ=59.05;MQ0=0;MQRankSum=-0.78;QD=11.37;ReadPosRankSum=-0.717;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RABGAP1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367692 GT:AD:DP:GQ:PL 0/1:30,19:49:99:587,0,939
1 174274062 rs2142864 A G 256.47 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=1.259;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.03;MQ0=0;MQRankSum=-0.205;QD=10.69;ReadPosRankSum=-0.088;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RABGAP1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000251507 GT:AD:DP:GQ:PL 0/1:14,10:24:99:286,0,465
1 174274349 rs2860909 T G 169.09 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=0.278;DB;DP=11;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.278;QD=15.37;ReadPosRankSum=-0.678;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RABGAP1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000251507 GT:AD:DP:GQ:PL 0/1:4,7:11:99:199,0,134
1 174362902 rs10912777 C A 44.31 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.16;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RABGAP1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000251507 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:76,6,0
1 174362965 rs10912778 T C 197.85 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=1.589;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=-1.067;QD=24.73;ReadPosRankSum=1.067;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RABGAP1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000251507 GT:AD:DP:GQ:PL 0/1:2,6:8:51.51:228,0,52
1 174417231 rs7516240 G A 1219.59 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.49;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RABGAP1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000251507 GT:AD:DP:GQ:PL 1/1:0,40:40:99:1253,99,0
1 174418179 rs143410373 T C 1648.81 PASS AB=0.412;AC=1;AF=0.50;AN=2;BaseQRankSum=1.083;DB;DP=102;Dels=0.0;FS=3.758;HRun=0;HaplotypeScore=0.8667;MQ=59.77;MQ0=0;MQRankSum=1.382;QD=16.16;ReadPosRankSum=0.21;SNPEFF_AMINO_ACID_CHANGE=S310;SNPEFF_CODON_CHANGE=agT/agC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_174417212_174418683;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR52;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367685 GT:AD:DP:GQ:PL 0/1:42,60:102:99:1679,0,1257
1 174516999 rs41266050 C T 370.03 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=0.056;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.53;MQ0=0;MQRankSum=0.866;QD=9.25;ReadPosRankSum=-0.307;SNPEFF_AMINO_ACID_CHANGE=P542S;SNPEFF_CODON_CHANGE=Ccg/Tcg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_174516975_174517699;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RABGAP1L;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000357444 GT:AD:DP:GQ:PL 0/1:25,15:40:99:400,0,815
1 174927388 rs10798329 G C 534.67 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.64;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RABGAP1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000251507 GT:AD:DP:GQ:PL 1/1:0,15:15:42.14:568,42,0
1 174969271 rs1046439 C T 36.53 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=12.18;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RABGAP1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392064 GT:AD:DP:GQ:PL 0/1:1,2:3:33.20:67,0,33
1 174983633 rs1058741 T C 67.17 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.21;MQ0=0;MQRankSum=0.358;QD=13.43;ReadPosRankSum=-0.358;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACYBP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367679 GT:AD:DP:GQ:PL 0/1:2,3:5:69.42:97,0,69
1 175014557 rs6425313 T C 251.87 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.48;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=SDCCAG3P2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326105 GT:AD:DP:GQ:PL 1/1:0,8:8:24.07:285,24,0
1 175014607 rs11808101 T C 240.37 PASS AB=0.357;AC=1;AF=0.50;AN=2;BaseQRankSum=0.267;DB;DP=14;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.2;QD=17.17;ReadPosRankSum=-2.133;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=SDCCAG3P2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326105 GT:AD:DP:GQ:PL 0/1:5,9:14:99:270,0,168
1 175046488 rs2072033 G A 2459.90 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.687;DB;DP=81;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9967;MQ=57.09;MQ0=0;MQRankSum=1.552;QD=30.37;ReadPosRankSum=-1.597;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000239462 GT:AD:DP:GQ:PL 1/1:1,80:81:99:2493,162,0
1 175046789 rs2072032 A G 630.36 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.413;DB;DP=21;Dels=0.0;FS=4.191;HRun=3;HaplotypeScore=0.9999;MQ=60.0;MQ0=0;MQRankSum=1.404;QD=30.02;ReadPosRankSum=-0.083;SNPEFF_AMINO_ACID_CHANGE=R79G;SNPEFF_CODON_CHANGE=Agg/Ggg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_175046520_175046963;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNN;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000239462 GT:AD:DP:GQ:PL 1/1:1,20:21:18.40:663,18,0
1 175049673 . A C 33.98 QDFilter2 AB=0.1;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.282;DP=20;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=6.7033;MQ=49.96;MQ0=0;MQRankSum=0.456;QD=1.7;ReadPosRankSum=2.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000239462 GT:AD:DP:GQ:PL 0/1:2,18:20:58.10:64,0,58
1 175052828 rs2072031 G A 323.97 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000239462 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:357,27,0
1 175053101 rs2072030 A T 888.32 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.53;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000239462 GT:AD:DP:GQ:PL 1/1:0,25:25:69.22:921,69,0
1 175054548 rs1573758 C T 129.93 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.56;SNPEFF_AMINO_ACID_CHANGE=H414;SNPEFF_CODON_CHANGE=caC/caT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_175054541_175054630;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNN;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000239462 GT:AD:DP:GQ:PL 1/1:0,7:7:12.04:162,12,0
1 175066967 rs61827435 G A 123.61 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.9;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000239462 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:156,12,0
1 175086461 rs6690229 A G 295.42 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.82;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000239462 GT:AD:DP:GQ:PL 1/1:0,9:9:24.08:328,24,0
1 175087677 rs6656284 G A 2997.44 HaplotypeScoreFilter13 AC=2;AF=1.00;AN=2;DB;DP=97;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=14.5057;MQ=58.56;MQ0=0;QD=30.9;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000239462 GT:AD:DP:GQ:PL 1/1:0,96:97:99:3030,229,0
1 175087729 rs6696455 T C 3708.59 PASS AC=2;AF=1.00;AN=2;DB;DP=122;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.4972;MQ=59.43;MQ0=0;QD=30.4;SNPEFF_AMINO_ACID_CHANGE=W630R;SNPEFF_CODON_CHANGE=Tgg/Cgg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_175087697_175087960;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNN;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000539081 GT:AD:DP:GQ:PL 1/1:0,122:122:99:3709,283,0
1 175092674 rs2285215 C T 1228.35 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.9968;MQ=57.52;MQ0=0;QD=32.33;SNPEFF_AMINO_ACID_CHANGE=P753L;SNPEFF_CODON_CHANGE=cCg/cTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_175092536_175092799;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNN;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000539081 GT:AD:DP:GQ:PL 1/1:0,37:38:96.26:1261,96,0
1 175092707 rs10798333 C T 678.32 PASS AB=0.463;AC=1;AF=0.50;AN=2;BaseQRankSum=2.735;DB;DP=41;Dels=0.0;FS=1.237;HRun=0;HaplotypeScore=3.3399;MQ=56.64;MQ0=0;MQRankSum=-2.519;QD=16.54;ReadPosRankSum=1.598;SNPEFF_AMINO_ACID_CHANGE=T764M;SNPEFF_CODON_CHANGE=aCg/aTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_175092536_175092799;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNN;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000539081 GT:AD:DP:GQ:PL 0/1:19,22:41:99:708,0,504
1 175092840 rs2072041 T C 807.57 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.94;MQ0=0;QD=32.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000239462 GT:AD:DP:GQ:PL 1/1:0,25:25:63.17:841,63,0
1 175096333 rs2072040 A G 1020.88 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.7887;MQ=59.17;MQ0=0;QD=36.46;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000239462 GT:AD:DP:GQ:PL 1/1:0,28:28:81.25:1054,81,0
1 175096389 rs10798334 C T 158.30 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000239462 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:191,15,0
1 175097349 rs7547567 C T 552.20 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.63;MQ0=0;QD=32.48;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000239462 GT:AD:DP:GQ:PL 1/1:0,17:17:42.14:585,42,0
1 175097864 rs12022593 G A 577.32 PASS AB=0.406;AC=1;AF=0.50;AN=2;BaseQRankSum=0.269;DB;DP=32;Dels=0.0;FS=19.826;HRun=0;HaplotypeScore=0.0;MQ=58.55;MQ0=0;MQRankSum=-0.192;QD=18.04;ReadPosRankSum=1.42;SNPEFF_AMINO_ACID_CHANGE=T1104;SNPEFF_CODON_CHANGE=acG/acA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_175097731_175097882;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNN;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000239462 GT:AD:DP:GQ:PL 0/1:13,19:32:99:607,0,442
1 175097991 rs10798335 C T 151.47 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=18.93;ReadPosRankSum=-1.067;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000239462 GT:AD:DP:GQ:PL 0/1:2,6:8:58.15:181,0,58
1 175104790 rs4651323 T C 33.73 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=6.75;ReadPosRankSum=-0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000239462 GT:AD:DP:GQ:PL 0/1:3,2:5:63.73:64,0,110
1 175104796 rs4651324 G T 174.42 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9332;MQ=60.0;MQ0=0;QD=34.88;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000239462 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:207,15,0
1 175105880 rs2072037 G A 280.63 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.08;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000239462 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:314,24,0
1 175105942 rs4650703 G A 607.88 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.76;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000239462 GT:AD:DP:GQ:PL 1/1:0,17:17:48.15:641,48,0
1 175113578 rs10912897 T C 1551.16 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=59.51;MQ0=0;QD=33.0;SNPEFF_AMINO_ACID_CHANGE=N1040;SNPEFF_CODON_CHANGE=aaT/aaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_175113523_175113686;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNN;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000539081 GT:AD:DP:GQ:PL 1/1:0,47:47:99:1584,123,0
1 175116046 rs112900440 C CT 188.78 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.296;DB;DP=24;FS=0.0;HRun=15;HaplotypeScore=201.0514;IndelType=I;MQ=48.65;MQ0=1;MQRankSum=-0.888;QD=7.55;ReadPosRankSum=-2.073;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000239462 GT:AD:DP:GQ:PL 1/1:10,13:24:2.77:228,3,0
1 175116252 rs4651335 C G 332.11 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=51.77;MQ0=0;QD=27.68;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000239462 GT:AD:DP:GQ:PL 1/1:0,12:12:30.09:365,30,0
1 175299301 rs2027867 T C 425.09 PASS AB=0.469;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.099;DB;DP=32;Dels=0.0;FS=3.192;HRun=1;HaplotypeScore=0.0;MQ=59.28;MQ0=0;MQRankSum=1.917;QD=13.28;ReadPosRankSum=0.178;SNPEFF_AMINO_ACID_CHANGE=Q1144;SNPEFF_CODON_CHANGE=caA/caG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_175299210_175299371;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNR;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367673 GT:AD:DP:GQ:PL 0/1:15,17:32:99:455,0,506
1 175306536 rs2269587 A G 173.82 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.779;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=2.205;QD=14.49;ReadPosRankSum=-1.073;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263525 GT:AD:DP:GQ:PL 0/1:6,6:12:99:204,0,216
1 175323446 rs2301432 A G 62.94 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.573;DB;DP=9;Dels=0.0;FS=4.771;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.573;QD=6.99;ReadPosRankSum=0.248;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263525 GT:AD:DP:GQ:PL 0/1:6,3:9:92.93:93,0,220
1 175324518 rs55715761 GCA G 436.84 PASS AB=0.676;AC=1;AF=0.50;AN=2;BaseQRankSum=4.215;DB;DP=25;FS=0.0;HRun=0;HaplotypeScore=120.3928;IndelType=D;MQ=56.2;MQ0=0;MQRankSum=-0.952;QD=17.47;ReadPosRankSum=0.571;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263525 GT:AD:DP:GQ:PL 0/1:13,12:25:99:476,0,718
1 175324651 rs2228359 A G 633.75 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.13;DB;DP=52;Dels=0.0;FS=1.191;HRun=0;HaplotypeScore=3.3777;MQ=57.37;MQ0=0;MQRankSum=1.99;QD=12.19;ReadPosRankSum=-1.75;SNPEFF_AMINO_ACID_CHANGE=D1079;SNPEFF_CODON_CHANGE=gaT/gaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_175324639_175324769;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNR;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000263525 GT:AD:DP:GQ:PL 0/1:26,26:52:99:664,0,734
1 175331977 . C T 410.48 PASS AB=0.646;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.69;DP=48;Dels=0.0;FS=1.417;HRun=2;HaplotypeScore=0.0;MQ=59.52;MQ0=0;MQRankSum=-0.992;QD=8.55;ReadPosRankSum=0.259;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263525 GT:AD:DP:GQ:PL 0/1:31,17:48:99:440,0,1019
1 175335412 rs1385540 A C 50.05 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.02;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263525 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
1 175348543 rs859426 T C 73.30 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.43;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263525 GT:AD:DP:GQ:PL 1/1:0,3:3:9.02:105,9,0
1 175348723 rs859427 C T 983.49 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.8;SNPEFF_AMINO_ACID_CHANGE=R643K;SNPEFF_CODON_CHANGE=aGg/aAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_175348688_175348873;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNR;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000263525 GT:AD:DP:GQ:PL 1/1:0,33:33:81.25:1016,81,0
1 175355128 rs859436 C G 2177.10 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.69;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263525 GT:AD:DP:GQ:PL 1/1:0,61:61:99:2210,163,0
1 175355152 rs72723450 C T 695.81 PASS AB=0.597;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.322;DB;DP=67;Dels=0.0;FS=2.144;HRun=0;HaplotypeScore=3.2783;MQ=60.0;MQ0=0;MQRankSum=-0.571;QD=10.39;ReadPosRankSum=-1.437;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263525 GT:AD:DP:GQ:PL 0/1:40,27:67:99:726,0,1225
1 175355391 rs859437 A G 539.29 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.89;MQ0=0;QD=25.68;SNPEFF_AMINO_ACID_CHANGE=T518;SNPEFF_CODON_CHANGE=acT/acC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_175355168_175355437;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNR;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000263525 GT:AD:DP:GQ:PL 1/1:0,21:21:42.13:572,42,0
1 175360690 rs859444 C T 91.60 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.53;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263525 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:124,9,0
1 175362736 rs3752517 G A 856.56 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.24;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263525 GT:AD:DP:GQ:PL 1/1:0,23:23:69.20:890,69,0
1 175363204 rs12023965 C T 256.13 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.529;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.23;MQ0=0;MQRankSum=-0.241;QD=15.07;ReadPosRankSum=1.01;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263525 GT:AD:DP:GQ:PL 0/1:8,9:17:99:286,0,269
1 175363227 rs12042417 T A 135.35 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.652;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.39;MQ0=0;MQRankSum=0.361;QD=15.04;ReadPosRankSum=-0.361;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263525 GT:AD:DP:GQ:PL 0/1:4,5:9:99:165,0,144
1 175365663 rs859446 G A 157.66 PASS AB=0.647;AC=1;AF=0.50;AN=2;BaseQRankSum=1.156;DB;DP=17;Dels=0.0;FS=1.913;HRun=0;HaplotypeScore=0.0;MQ=58.9;MQ0=0;MQRankSum=-1.759;QD=9.27;ReadPosRankSum=1.457;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263525 GT:AD:DP:GQ:PL 0/1:11,6:17:99:188,0,327
1 175375334 rs859400 C T 367.26 PASS AB=0.618;AC=1;AF=0.50;AN=2;BaseQRankSum=0.571;DB;DP=34;Dels=0.0;FS=6.036;HRun=0;HaplotypeScore=0.9665;MQ=59.32;MQ0=0;MQRankSum=-0.387;QD=10.8;ReadPosRankSum=1.05;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263525 GT:AD:DP:GQ:PL 0/1:21,13:34:99:397,0,593
1 175375469 rs2239819 C A 1246.86 PASS AB=0.435;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.945;DB;DP=69;Dels=0.0;FS=3.241;HRun=1;HaplotypeScore=1.8939;MQ=59.67;MQ0=0;MQRankSum=-1.34;QD=18.07;ReadPosRankSum=0.401;SNPEFF_AMINO_ACID_CHANGE=A128S;SNPEFF_CODON_CHANGE=Gcc/Tcc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_175375352_175375913;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNR;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000263525 GT:AD:DP:GQ:PL 0/1:30,39:69:99:1277,0,860
1 175375683 rs859399 T C 1013.47 PASS AB=0.539;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.563;DB;DP=76;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.445;MQ=59.75;MQ0=0;MQRankSum=1.053;QD=13.34;ReadPosRankSum=-0.146;SNPEFF_AMINO_ACID_CHANGE=T56;SNPEFF_CODON_CHANGE=acA/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_175375352_175375913;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNR;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000263525 GT:AD:DP:GQ:PL 0/1:41,35:76:99:1043,0,1292
1 175375802 rs859398 T C 1389.72 PASS AB=0.518;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.473;DB;DP=110;Dels=0.0;FS=2.547;HRun=0;HaplotypeScore=2.5589;MQ=59.79;MQ0=0;MQRankSum=0.106;QD=12.63;ReadPosRankSum=1.307;SNPEFF_AMINO_ACID_CHANGE=I17V;SNPEFF_CODON_CHANGE=Atc/Gtc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_175375352_175375913;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNR;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000263525 GT:AD:DP:GQ:PL 0/1:57,53:110:99:1420,0,1778
1 175916267 rs6674353 T C 1778.99 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.07;MQ0=0;QD=35.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RFWD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000308769 GT:AD:DP:GQ:PL 1/1:0,50:50:99:1812,135,0
1 175916506 rs34893141 A ATT 67.41 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=0.666;DB;DP=21;FS=0.0;HRun=18;HaplotypeScore=230.1457;IndelType=I;MQ=51.1;MQ0=0;MQRankSum=-0.755;QD=3.21;ReadPosRankSum=-1.821;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RFWD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000308769 GT:AD:DP:GQ:PL 0/1:12,5:21:99:106,0,100
1 175937540 rs4534339 C T 1943.56 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.71;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RFWD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000308769 GT:AD:DP:GQ:PL 1/1:0,56:56:99:1977,144,0
1 175937897 rs4347169 C G 92.13 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.71;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RFWD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000308769 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:124,9,0
1 176012807 rs4233165 G A 3007.24 PASS AC=2;AF=1.00;AN=2;DB;DP=86;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9832;MQ=59.73;MQ0=0;QD=34.97;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RFWD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000308769 GT:AD:DP:GQ:PL 1/1:0,86:86:99:3040,223,0
1 176050138 rs2502828 G A 551.78 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.46;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RFWD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000498306 GT:AD:DP:GQ:PL 1/1:0,17:17:45.14:585,45,0
1 176118219 rs3748618 G A 761.89 PASS AB=0.475;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.104;DB;DP=61;Dels=0.0;FS=1.215;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.148;QD=12.49;ReadPosRankSum=-1.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RFWD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000308769 GT:AD:DP:GQ:PL 0/1:29,32:61:99:792,0,979
1 176132292 rs704828 C T 46.65 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RFWD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000308769 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:78,6,0
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1 176664842 rs12138725 C A 998.43 PASS AB=0.449;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.128;DB;DP=69;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.33;MQ0=0;MQRankSum=0.428;QD=14.47;ReadPosRankSum=-0.694;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PAPPA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367661 GT:AD:DP:GQ:PL 0/1:31,38:69:99:1028,0,911
1 176665102 rs67178111 ATGTGTGTGTGTGTGTGTGTG A 1016.38 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=2.807;DB;DP=21;FS=0.0;HRun=0;HaplotypeScore=361.5437;IndelType=D;MQ=50.69;MQ0=0;MQRankSum=-0.849;QD=48.4;ReadPosRankSum=-0.065;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PAPPA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367661 GT:AD:DP:GQ:PL 0/1:9,11:21:99:1055,0,794
1 176671912 rs71944190 TGAGAGAGA T 412.81 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.604;DB;DP=21;FS=0.0;HRun=0;HaplotypeScore=226.9463;IndelType=D;MQ=56.49;MQ0=0;MQRankSum=0.521;QD=19.66;ReadPosRankSum=-1.447;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PAPPA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367662 GT:AD:DP:GQ:PL 0/1:14,7:21:99:452,0,786
1 176671912 rs111906977 T A 58.73 HaplotypeScoreFilter13 AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.813;DB;DP=20;Dels=0.05;FS=0.0;HRun=0;HaplotypeScore=34.8829;MQ=56.49;MQ0=0;MQRankSum=-0.656;QD=2.8;ReadPosRankSum=1.196;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PAPPA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367662 GT:AD:DP:GQ:PL 0/1:8,12:20:88.72:89,0,151
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1 176759336 rs2076336 A G 49.99 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PAPPA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367662 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
1 176760806 rs6425396 C T 40.38 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.026;QD=10.1;ReadPosRankSum=1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PAPPA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367662 GT:AD:DP:GQ:PL 0/1:2,2:4:54.89:70,0,55
1 176769358 rs10913256 T C 288.25 PASS AB=0.565;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.093;DB;DP=23;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.279;QD=12.53;ReadPosRankSum=-1.395;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PAPPA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367662 GT:AD:DP:GQ:PL 0/1:13,10:23:99:318,0,440
1 176809368 rs12118034 C T 1676.64 PASS AB=0.425;AC=1;AF=0.50;AN=2;BaseQRankSum=4.589;DB;DP=106;Dels=0.0;FS=2.626;HRun=0;HaplotypeScore=2.5482;MQ=59.61;MQ0=0;MQRankSum=-0.326;QD=15.82;ReadPosRankSum=0.188;SNPEFF_AMINO_ACID_CHANGE=D1754;SNPEFF_CODON_CHANGE=gaC/gaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_176809309_176809407;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PAPPA2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367662 GT:AD:DP:GQ:PL 0/1:45,61:106:99:1707,0,1201
1 176837817 rs12025402 A G 137.40 PASS AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=22.9;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASTN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000424564 GT:AD:DP:GQ:PL 0/1:1,5:6:24.18:167,0,24
1 176845528 rs2076341 C T 89.16 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASTN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361833 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:121,9,0
1 176851747 rs2076337 G A 80.97 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.727;QD=20.24;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASTN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361833 GT:AD:DP:GQ:PL 0/1:1,3:4:30.61:111,0,31
1 176857347 rs2072935 A G 887.03 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.61;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASTN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361833 GT:AD:DP:GQ:PL 1/1:0,31:31:66.22:920,66,0
1 176863836 rs2281180 G C 1973.59 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.17;MQ0=0;QD=35.24;SNPEFF_AMINO_ACID_CHANGE=H934Q;SNPEFF_CODON_CHANGE=caC/caG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_176863698_176863966;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASTN1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000361833 GT:AD:DP:GQ:PL 1/1:0,56:56:99:2007,153,0
1 176863867 rs2228956 T C 1968.25 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.24;MQ0=0;QD=32.27;SNPEFF_AMINO_ACID_CHANGE=H924R;SNPEFF_CODON_CHANGE=cAc/cGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_176863698_176863966;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASTN1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000361833 GT:AD:DP:GQ:PL 1/1:0,61:61:99:2001,156,0
1 176918136 rs4652208 A C 103.48 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=2.219;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.361;QD=11.5;ReadPosRankSum=-0.729;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASTN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361833 GT:AD:DP:GQ:PL 0/1:5,4:9:99:133,0,178
1 176992553 rs172917 A G 76.64 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.031;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9578;MQ=58.29;MQ0=0;MQRankSum=1.532;QD=6.97;ReadPosRankSum=0.717;SNPEFF_AMINO_ACID_CHANGE=C475;SNPEFF_CODON_CHANGE=tgT/tgC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_176992540_176992707;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASTN1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000361833 GT:AD:DP:GQ:PL 0/1:6,5:11:99:107,0,195
1 176992676 rs10798496 C T 204.87 PASS AB=0.565;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.403;DB;DP=23;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8667;MQ=59.19;MQ0=0;MQRankSum=-0.713;QD=8.91;ReadPosRankSum=0.217;SNPEFF_AMINO_ACID_CHANGE=Q434;SNPEFF_CODON_CHANGE=caG/caA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_176992540_176992707;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASTN1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000361833 GT:AD:DP:GQ:PL 0/1:13,10:23:99:235,0,383
1 177000203 rs6682507 C T 136 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.529;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.43;MQ0=0;MQRankSum=0.135;QD=11.33;ReadPosRankSum=1.134;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASTN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361833 GT:AD:DP:GQ:PL 0/1:7,5:12:99:166,0,245
1 177198818 rs6674725 G T 43.95 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=14.65;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM5B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361539 GT:AD:DP:GQ:PL 0/1:1,2:3:14.67:74,0,15
1 177198998 rs3176441 T C 248.80 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=1.813;DB;DP=22;Dels=0.0;FS=1.707;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.022;QD=11.31;ReadPosRankSum=-0.824;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_1_177198937_177199281;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM5B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361539 GT:AD:DP:GQ:PL 0/1:12,10:22:99:279,0,430
1 177199426 rs12734367 G A 78.07 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.72;QD=13.01;ReadPosRankSum=-1.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM5B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361539 GT:AD:DP:GQ:PL 0/1:2,4:6:70.19:108,0,70
1 177250670 rs1045736 G A 815.04 PASS AB=0.481;AC=1;AF=0.50;AN=2;BaseQRankSum=0.783;DB;DP=52;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.56;MQ0=0;MQRankSum=-1.179;QD=15.67;ReadPosRankSum=0.651;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM5B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478325 GT:AD:DP:GQ:PL 0/1:25,27:52:99:845,0,698
1 177899562 rs626976 C T 94.28 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.937;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.55;QD=13.47;ReadPosRankSum=1.754;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AL359075.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000239472 GT:AD:DP:GQ:PL 0/1:3,4:7:97.06:124,0,97
1 177902387 rs61745560 C A 786.10 PASS AB=0.466;AC=1;AF=0.50;AN=2;BaseQRankSum=1.492;DB;DP=58;Dels=0.0;FS=1.133;HRun=0;HaplotypeScore=2.179;MQ=60.0;MQ0=0;MQRankSum=0.751;QD=13.55;ReadPosRankSum=1.372;SNPEFF_AMINO_ACID_CHANGE=A613S;SNPEFF_CODON_CHANGE=Gct/Tct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_177902349_177902447;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AL359075.1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000414025 GT:AD:DP:GQ:PL 0/1:27,31:58:99:816,0,580
1 177902482 rs3813648 G A 361.61 PASS AB=0.536;AC=1;AF=0.50;AN=2;BaseQRankSum=0.366;DB;DP=28;Dels=0.0;FS=12.916;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.024;QD=12.91;ReadPosRankSum=0.512;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AL359075.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000239472 GT:AD:DP:GQ:PL 0/1:15,13:28:99:392,0,474
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1 178420434 rs445065 C T 44.34 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.17;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RASAL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367649 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:76,6,0
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1 178483231 rs10913563 G A 1404.74 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.22;SNPEFF_AMINO_ACID_CHANGE=A37T;SNPEFF_CODON_CHANGE=Gcc/Acc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_178483162_178483320;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf49;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367642 GT:AD:DP:GQ:PL 1/1:0,45:45:99:1438,111,0
1 178489978 rs3813636 T G 1866.73 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.57;MQ0=0;QD=34.57;SNPEFF_AMINO_ACID_CHANGE=L171R;SNPEFF_CODON_CHANGE=cTg/cGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_178489808_178490009;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf49;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000319416 GT:AD:DP:GQ:PL 1/1:0,54:54:99:1900,144,0
1 178514622 rs12568310 C T 228.90 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.7;SNPEFF_AMINO_ACID_CHANGE=P3L;SNPEFF_CODON_CHANGE=cCt/cTt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_178514348_178515038;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AL513013.1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367636 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:262,21,0
1 178746031 rs75184054 C T 105.37 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.731;QD=21.07;ReadPosRankSum=0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=RALGPS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000324778 GT:AD:DP:GQ:PL 0/1:1,4:5:27.60:135,0,28
1 178776985 rs6690324 G A 89.28 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.76;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=RALGPS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000324778 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:121,9,0
1 178780650 rs12131426 A G 481.43 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=2.298;DB;DP=28;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.952;QD=17.19;ReadPosRankSum=0.302;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=RALGPS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000324778 GT:AD:DP:GQ:PL 0/1:12,16:28:99:511,0,399
1 178790583 rs2275099 T C 31.82 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=0.198;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.198;QD=4.55;ReadPosRankSum=-1.495;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=RALGPS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000324778 GT:AD:DP:GQ:PL 0/1:5,2:7:61.81:62,0,188
1 178820159 rs1544124 C A 162.24 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.203;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.55;MQ0=0;MQRankSum=0.053;QD=10.14;ReadPosRankSum=-0.893;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=RALGPS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000324778 GT:AD:DP:GQ:PL 0/1:8,8:16:99:192,0,298
1 178854162 rs6425503 C T 247.80 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.337;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9832;MQ=60.0;MQ0=0;MQRankSum=-0.433;QD=14.58;ReadPosRankSum=-0.625;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=RALGPS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000324778 GT:AD:DP:GQ:PL 0/1:8,9:17:99:278,0,283
1 178858624 rs34280213 A T 115.59 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=1.733;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.333;QD=8.26;ReadPosRankSum=1.467;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=RALGPS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000324778 GT:AD:DP:GQ:PL 0/1:9,5:14:99:146,0,320
1 178858711 rs10798635 C A 587.32 PASS AB=0.608;AC=1;AF=0.50;AN=2;BaseQRankSum=0.473;DB;DP=51;Dels=0.0;FS=4.162;HRun=1;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=-1.804;QD=11.52;ReadPosRankSum=0.28;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=RALGPS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000324778 GT:AD:DP:GQ:PL 0/1:31,20:51:99:617,0,1038
1 178858759 rs3753534 G A 965.40 PASS AB=0.554;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.146;DB;DP=92;Dels=0.0;FS=1.799;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.588;QD=10.49;ReadPosRankSum=-1.291;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=RALGPS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000324778 GT:AD:DP:GQ:PL 0/1:51,41:92:99:995,0,1706
1 178858891 rs116413802 A G 712.75 PASS AB=0.476;AC=1;AF=0.50;AN=2;BaseQRankSum=3.085;DB;DP=42;Dels=0.0;FS=13.637;HRun=0;HaplotypeScore=0.9993;MQ=59.45;MQ0=0;MQRankSum=0.088;QD=16.97;ReadPosRankSum=0.491;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=RALGPS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000324778 GT:AD:DP:GQ:PL 0/1:20,22:42:99:743,0,656
1 178866674 rs17674780 A G 85.65 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.219;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.876;QD=9.52;ReadPosRankSum=-0.876;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=RALGPS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477383 GT:AD:DP:GQ:PL 0/1:4,5:9:99:116,0,142
1 179013204 rs11802142 G A 883.60 PASS AB=0.367;AC=1;AF=0.50;AN=2;BaseQRankSum=2.333;DB;DP=49;Dels=0.0;FS=2.536;HRun=0;HaplotypeScore=0.9999;MQ=59.15;MQ0=0;MQRankSum=0.674;QD=18.03;ReadPosRankSum=-0.467;SNPEFF_AMINO_ACID_CHANGE=R74;SNPEFF_CODON_CHANGE=cgG/cgA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_179012850_179013359;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM20B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000263733 GT:AD:DP:GQ:PL 0/1:18,31:49:99:914,0,520
1 179041011 rs3820163 A G 2263.84 PASS AC=2;AF=1.00;AN=2;DB;DP=72;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.7333;MQ=60.0;MQ0=0;QD=31.01;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM20B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263733 GT:AD:DP:GQ:PL 1/1:0,71:72:99:2297,181,0
1 179041398 rs2025584 A G 48.72 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=RALGPS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000535251 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:80,6,0
1 179051300 rs2296377 T C 51.32 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.11;SNPEFF_AMINO_ACID_CHANGE=F13L;SNPEFF_CODON_CHANGE=Ttc/Ctc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_179051221_179051522;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TOR3A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000352445 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:83,6,0
1 179052002 rs2274228 T G 60.53 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.358;QD=12.11;ReadPosRankSum=-0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=RALGPS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000535251 GT:AD:DP:GQ:PL 0/1:2,3:5:64:91,0,64
1 179054692 rs912758 T G 2070.36 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.78;MQ0=0;QD=33.94;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_1_179054507_179055028;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TOR3A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000447595 GT:AD:DP:GQ:PL 1/1:0,61:61:99:2103,169,0
1 179076672 rs28913894 G A 106.75 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=1.92;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9996;MQ=60.0;MQ0=0;MQRankSum=1.221;QD=13.34;ReadPosRankSum=0.684;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367623 GT:AD:DP:GQ:PL 0/1:3,5:8:87.14:137,0,87
1 179079190 rs3818433 T C 89.85 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.95;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392043 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:122,9,0
1 179080221 rs113450962 C T 52.28 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344730 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
1 179084080 rs2274230 T G 1138.79 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.541;DB;DP=77;Dels=0.0;FS=0.866;HRun=0;HaplotypeScore=0.5784;MQ=59.7;MQ0=0;MQRankSum=0.444;QD=14.79;ReadPosRankSum=-0.977;SNPEFF_AMINO_ACID_CHANGE=L462;SNPEFF_CODON_CHANGE=ctA/ctC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_179084013_179084165;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABL2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000408940 GT:AD:DP:GQ:PL 0/1:35,42:77:99:1169,0,1032
1 179086419 rs72207641 T TA 360.35 PASS AB=0.696;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.991;DB;DP=39;FS=4.746;HRun=11;HaplotypeScore=141.6265;IndelType=I;MQ=60.83;MQ0=0;MQRankSum=-0.63;QD=9.24;ReadPosRankSum=1.099;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344730 GT:AD:DP:GQ:PL 0/1:22,17:39:99:399,0,272
1 179087934 rs2171959 T C 397.97 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.388;DB;DP=28;Dels=0.0;FS=6.185;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.345;QD=14.21;ReadPosRankSum=0.942;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344730 GT:AD:DP:GQ:PL 0/1:14,14:28:99:428,0,417
1 179089213 rs1858551 C T 173.58 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.112;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.077;QD=6.43;ReadPosRankSum=0.54;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344730 GT:AD:DP:GQ:PL 0/1:18,9:27:99:204,0,643
1 179089475 rs9726961 C G 583.03 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=1.294;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.431;QD=17.15;ReadPosRankSum=-0.535;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344730 GT:AD:DP:GQ:PL 0/1:16,18:34:99:613,0,571
1 179089491 rs9728480 A C 444.10 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=0.52;DB;DP=30;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.021;QD=14.8;ReadPosRankSum=0.852;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344730 GT:AD:DP:GQ:PL 0/1:16,14:30:99:474,0,558
1 179089518 rs9727252 C G 173.37 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=0.839;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.194;QD=11.56;ReadPosRankSum=0.194;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344730 GT:AD:DP:GQ:PL 0/1:8,7:15:99:203,0,267
1 179100291 rs2486998 T C 93.72 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.24;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000508127 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:126,9,0
1 179198653 rs2306941 T C 35.61 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.81;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367623 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:67,6,0
1 179271948 . A AT 449.90 PASS AB=0.773;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.463;DP=58;FS=6.617;HRun=12;HaplotypeScore=227.9294;IndelType=I;MQ=57.98;MQ0=0;MQRankSum=0.44;QD=7.76;ReadPosRankSum=-0.099;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SOAT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367619 GT:AD:DP:GQ:PL 0/1:41,16:58:99:489,0,482
1 179272116 rs2493121 T A 78.97 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.04;MQ0=0;MQRankSum=0.0;QD=13.16;ReadPosRankSum=-1.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SOAT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367619 GT:AD:DP:GQ:PL 0/1:2,4:6:63.85:109,0,64
1 179304892 rs1034269 T C 148.30 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.517;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=-0.322;QD=18.54;ReadPosRankSum=-0.956;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SOAT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367619 GT:AD:DP:GQ:PL 0/1:3,5:8:99:178,0,101
1 179310700 rs2248979 C T 40.85 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.026;QD=10.21;ReadPosRankSum=1.026;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SOAT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426956 GT:AD:DP:GQ:PL 0/1:2,2:4:59.19:71,0,59
1 179312102 rs4651024 T C 744.79 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.44;DB;DP=45;Dels=0.0;FS=1.419;HRun=0;HaplotypeScore=1.5774;MQ=59.49;MQ0=0;MQRankSum=-0.058;QD=16.55;ReadPosRankSum=-0.174;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SOAT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426956 GT:AD:DP:GQ:PL 0/1:18,27:45:99:775,0,618
1 179314242 rs56287445 C T 721.09 PASS AB=0.435;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.445;DB;DP=46;Dels=0.0;FS=12.277;HRun=0;HaplotypeScore=1.9576;MQ=58.99;MQ0=0;MQRankSum=0.537;QD=15.68;ReadPosRankSum=0.263;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SOAT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426956 GT:AD:DP:GQ:PL 0/1:20,26:46:99:751,0,678
1 179316687 rs13306729 A G 393.39 PASS AB=0.348;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.742;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.2772;MQ=58.99;MQ0=0;MQRankSum=0.161;QD=17.1;ReadPosRankSum=1.194;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SOAT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367619 GT:AD:DP:GQ:PL 0/1:8,15:23:99:423,0,227
1 179319580 rs3753527 T C 1937.14 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.25;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SOAT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367619 GT:AD:DP:GQ:PL 1/1:0,52:52:99:1970,141,0
1 179320249 rs13306727 G T 37.95 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=7.59;ReadPosRankSum=1.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SOAT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367619 GT:AD:DP:GQ:PL 0/1:3,2:5:67.94:68,0,107
1 179320279 rs13306730 A G 36.25 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=7.25;ReadPosRankSum=-1.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SOAT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367619 GT:AD:DP:GQ:PL 0/1:3,2:5:66.24:66,0,114
1 179335952 rs11804234 C A 40.77 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=47.12;MQ0=0;QD=20.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AXDND1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359183 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:72,6,0
1 179347530 rs10913739 C G 36.72 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.38;QD=6.12;ReadPosRankSum=-0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AXDND1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359183 GT:AD:DP:GQ:PL 0/1:4,2:6:66.72:67,0,114
1 179348646 rs71111916 T TG 676.55 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.34;DB;DP=30;FS=5.724;HRun=1;HaplotypeScore=79.3187;IndelType=I;MQ=60.36;MQ0=0;MQRankSum=-0.077;QD=22.55;ReadPosRankSum=0.54;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AXDND1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000509175 GT:AD:DP:GQ:PL 0/1:12,18:30:99:716,0,259
1 179354273 rs144830533 C T 56.70 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.55;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=-0.55;QD=8.1;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AXDND1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359183 GT:AD:DP:GQ:PL 0/1:4,3:7:86.69:87,0,135
1 179354304 rs7541905 A G 227.61 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.053;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9967;MQ=60.0;MQ0=0;MQRankSum=0.683;QD=14.23;ReadPosRankSum=-0.053;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AXDND1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359183 GT:AD:DP:GQ:PL 0/1:8,8:16:99:258,0,263
1 179363275 rs16854064 C A 117.23 PASS AB=0.529;AC=1;AF=0.50;AN=2;BaseQRankSum=0.106;DB;DP=17;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.106;QD=6.9;ReadPosRankSum=-0.847;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AXDND1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359183 GT:AD:DP:GQ:PL 0/1:9,8:17:99:147,0,319
1 179364059 rs6666939 G T 108.11 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.322;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.221;QD=13.51;ReadPosRankSum=-0.956;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AXDND1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359183 GT:AD:DP:GQ:PL 0/1:3,5:8:97.65:138,0,98
1 179380472 rs5779024 GT G 490.29 PASS AB=0.651;AC=1;AF=0.50;AN=2;BaseQRankSum=4.981;DB;DP=41;FS=0.0;HRun=8;HaplotypeScore=104.3416;IndelType=D;MQ=58.48;MQ0=0;MQRankSum=0.795;QD=11.96;ReadPosRankSum=-0.146;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AXDND1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359183 GT:AD:DP:GQ:PL 0/1:19,22:41:99:529,0,396
1 179398536 rs6662859 G A 152.46 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=54.2;MQ0=0;QD=30.49;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AXDND1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359183 GT:AD:DP:GQ:PL 1/1:0,5:5:15.02:185,15,0
1 179398563 rs4652382 C G 94.40 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.38;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.92;MQ0=0;MQRankSum=-0.72;QD=13.49;ReadPosRankSum=-0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AXDND1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359183 GT:AD:DP:GQ:PL 0/1:2,5:7:66.71:124,0,67
1 179398875 rs4652383 T A 31.82 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=1.495;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.922;QD=4.55;ReadPosRankSum=0.922;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AXDND1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359183 GT:AD:DP:GQ:PL 0/1:5,2:7:61.81:62,0,185
1 179398932 rs55708548 G C 36.88 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=12.29;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AXDND1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359183 GT:AD:DP:GQ:PL 0/1:1,2:3:33.20:67,0,33
1 179414105 rs11577579 A C 729.54 PASS AB=0.395;AC=1;AF=0.50;AN=2;BaseQRankSum=1.672;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9469;MQ=60.0;MQ0=0;MQRankSum=-0.687;QD=19.2;ReadPosRankSum=1.284;SNPEFF_AMINO_ACID_CHANGE=I456L;SNPEFF_CODON_CHANGE=Atc/Ctc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_179414105_179414339;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AXDND1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000434088 GT:AD:DP:GQ:PL 0/1:15,23:38:99:760,0,441
1 179426268 rs73036735 A G 828.69 PASS AB=0.453;AC=1;AF=0.50;AN=2;BaseQRankSum=0.835;DB;DP=53;Dels=0.0;FS=1.095;HRun=0;HaplotypeScore=1.7356;MQ=54.44;MQ0=0;MQRankSum=-0.486;QD=15.35;ReadPosRankSum=1.514;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AXDND1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359183 GT:AD:DP:GQ:PL 0/1:24,29:53:99:859,0,704
1 179437817 rs72719297 C T 308.53 PASS AB=0.618;AC=1;AF=0.50;AN=2;BaseQRankSum=1.591;DB;DP=34;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.32;MQ0=0;MQRankSum=-0.617;QD=9.07;ReadPosRankSum=-0.655;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AXDND1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359183 GT:AD:DP:GQ:PL 0/1:21,13:34:99:339,0,737
1 179437827 rs7514278 G A 1118.97 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.28;MQ0=0;QD=34.97;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AXDND1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359183 GT:AD:DP:GQ:PL 1/1:0,32:32:84.28:1152,84,0
1 179452381 rs10494519 C T 610.43 PASS AB=0.475;AC=1;AF=0.50;AN=2;BaseQRankSum=3.33;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.239;QD=15.26;ReadPosRankSum=0.548;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AXDND1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359183 GT:AD:DP:GQ:PL 0/1:19,21:40:99:640,0,513
1 179460806 rs17369441 C T 513.84 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=0.931;DB;DP=49;Dels=0.0;FS=11.36;HRun=0;HaplotypeScore=0.9997;MQ=60.0;MQ0=0;MQRankSum=0.178;QD=10.49;ReadPosRankSum=-0.324;SNPEFF_AMINO_ACID_CHANGE=A676V;SNPEFF_CODON_CHANGE=gCg/gTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_179460673_179460872;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AXDND1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000434088 GT:AD:DP:GQ:PL 0/1:28,21:49:99:544,0,812
1 179460979 rs41267594 G T 85.48 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.447;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.365;QD=8.55;ReadPosRankSum=-0.365;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AXDND1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000457238 GT:AD:DP:GQ:PL 0/1:6,4:10:99:115,0,181
1 179461945 rs72704430 G A 427.88 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.083;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.117;QD=12.23;ReadPosRankSum=-0.117;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AXDND1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000457238 GT:AD:DP:GQ:PL 0/1:20,15:35:99:458,0,679
1 179461975 rs59377201 T C 451.17 PASS AB=0.52;AC=1;AF=0.50;AN=2;BaseQRankSum=3.796;DB;DP=50;Dels=0.0;FS=2.204;HRun=5;HaplotypeScore=0.9867;MQ=60.0;MQ0=0;MQRankSum=0.379;QD=9.02;ReadPosRankSum=0.34;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AXDND1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000457238 GT:AD:DP:GQ:PL 0/1:26,24:50:99:481,0,890
1 179462149 rs7549194 A G 1256.26 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.34;MQ0=0;QD=35.89;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AXDND1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000457238 GT:AD:DP:GQ:PL 1/1:0,35:35:99:1289,102,0
1 179462219 rs73036768 A G 60.51 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=0.684;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9734;MQ=60.0;MQ0=0;MQRankSum=0.322;QD=7.56;ReadPosRankSum=1.92;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AXDND1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000457238 GT:AD:DP:GQ:PL 0/1:5,3:8:90.51:91,0,171
1 179494612 rs112780116 CTACA C 988.38 PASS AC=2;AF=1.00;AN=2;DB;DP=29;FS=0.0;HRun=0;HaplotypeScore=182.72;IndelType=D;MQ=61.21;MQ0=0;QD=34.08;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AXDND1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359183 GT:AD:DP:GQ:PL 1/1:7,22:29:66.22:1030,66,0
1 179494665 rs4620484 C T 374.37 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=62.13;MQ0=0;QD=37.44;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AXDND1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359183 GT:AD:DP:GQ:PL 1/1:0,10:10:30.10:407,30,0
1 179497359 rs6698201 T C 334.15 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.41;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AXDND1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359183 GT:AD:DP:GQ:PL 1/1:0,10:10:27.09:367,27,0
1 179520151 rs1410590 C T 51.16 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AXDND1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360322 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
1 179520254 rs1410591 C G 286.17 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.448;DB;DP=26;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.38;MQ0=0;MQRankSum=-0.764;QD=11.01;ReadPosRankSum=-1.66;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AXDND1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360322 GT:AD:DP:GQ:PL 0/1:16,10:26:99:316,0,572
1 179520422 rs3818587 T C 1362.99 PASS AB=0.418;AC=1;AF=0.50;AN=2;BaseQRankSum=3.814;DB;DP=79;Dels=0.0;FS=3.155;HRun=0;HaplotypeScore=1.9427;MQ=59.42;MQ0=0;MQRankSum=1.661;QD=17.25;ReadPosRankSum=0.056;SNPEFF_AMINO_ACID_CHANGE=L278;SNPEFF_CODON_CHANGE=ctA/ctG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_179519674_179520586;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NPHS2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367616 GT:AD:DP:GQ:PL 0/1:33,46:79:99:1393,0,981
1 179520506 rs1410592 G A 669.98 PASS AB=0.531;AC=1;AF=0.50;AN=2;BaseQRankSum=1.465;DB;DP=49;Dels=0.0;FS=4.568;HRun=0;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=0.805;QD=13.67;ReadPosRankSum=-0.949;SNPEFF_AMINO_ACID_CHANGE=A250;SNPEFF_CODON_CHANGE=gcC/gcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_179519674_179520586;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NPHS2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367616 GT:AD:DP:GQ:PL 0/1:26,23:49:99:700,0,765
1 179520660 rs2274624 C G 412.73 PASS AB=0.381;AC=1;AF=0.50;AN=2;BaseQRankSum=0.688;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.471;QD=19.65;ReadPosRankSum=-0.253;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AXDND1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360322 GT:AD:DP:GQ:PL 0/1:8,13:21:99:443,0,261
1 179526052 rs73051834 A T 47.34 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.67;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AXDND1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360322 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
1 179533915 rs3738423 G A 541.76 PASS AB=0.523;AC=1;AF=0.50;AN=2;BaseQRankSum=0.399;DB;DP=44;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.48;MQ0=0;MQRankSum=-0.07;QD=12.31;ReadPosRankSum=0.282;SNPEFF_AMINO_ACID_CHANGE=S96;SNPEFF_CODON_CHANGE=tcC/tcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_179533825_179533928;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NPHS2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367615 GT:AD:DP:GQ:PL 0/1:23,21:44:99:572,0,720
1 179544898 rs1079292 T C 115.11 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=55.21;MQ0=0;QD=23.02;SNPEFF_AMINO_ACID_CHANGE=G34;SNPEFF_CODON_CHANGE=ggA/ggG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_179544726_179545068;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NPHS2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367615 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:148,12,0
1 179561645 rs4652418 A C 421.25 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TDRD5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294848 GT:AD:DP:GQ:PL 1/1:0,12:12:33.11:454,33,0
1 179561683 rs4652419 A T 537.51 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=9;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.6;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TDRD5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294848 GT:AD:DP:GQ:PL 1/1:0,21:21:51.14:571,51,0
1 179562143 rs4652420 G A 43.97 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=14.66;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TDRD5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294848 GT:AD:DP:GQ:PL 0/1:1,2:3:30.98:74,0,31
1 179562520 rs78183476 A G 69.86 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.727;QD=17.46;ReadPosRankSum=-0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TDRD5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294848 GT:AD:DP:GQ:PL 0/1:1,3:4:29.72:100,0,30
1 179562707 rs12070589 G A 645.41 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=4.416;DB;DP=46;Dels=0.0;FS=1.253;HRun=1;HaplotypeScore=0.9867;MQ=60.0;MQ0=0;MQRankSum=0.715;QD=14.03;ReadPosRankSum=-0.307;SNPEFF_AMINO_ACID_CHANGE=P115;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_179562595_179563002;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TDRD5;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000294848 GT:AD:DP:GQ:PL 0/1:23,23:46:99:675,0,672
1 179562740 rs61310274 G C 711.70 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.425;DB;DP=52;Dels=0.0;FS=1.265;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=-0.104;QD=13.69;ReadPosRankSum=0.085;SNPEFF_AMINO_ACID_CHANGE=R126S;SNPEFF_CODON_CHANGE=agG/agC;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_179562595_179563002;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TDRD5;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000294848 GT:AD:DP:GQ:PL 0/1:28,24:52:99:742,0,839
1 179563033 rs6698734 A G 282.30 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=1.78;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=-0.048;QD=16.61;ReadPosRankSum=-0.625;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TDRD5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294848 GT:AD:DP:GQ:PL 0/1:8,9:17:99:312,0,215
1 179563041 rs6701343 T C 211.32 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=2.646;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.847;QD=13.21;ReadPosRankSum=0.529;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TDRD5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294848 GT:AD:DP:GQ:PL 0/1:9,7:16:99:241,0,267
1 179563058 rs6698746 A G 173.85 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=2.657;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.55;MQ0=0;MQRankSum=0.705;QD=10.87;ReadPosRankSum=0.488;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TDRD5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294848 GT:AD:DP:GQ:PL 0/1:10,6:16:99:204,0,292
1 179600001 rs6704505 A G 724.70 PASS AB=0.438;AC=1;AF=0.50;AN=2;BaseQRankSum=1.081;DB;DP=48;Dels=0.0;FS=8.425;HRun=2;HaplotypeScore=0.0;MQ=59.13;MQ0=0;MQRankSum=-0.353;QD=15.1;ReadPosRankSum=-1.039;SNPEFF_AMINO_ACID_CHANGE=K358E;SNPEFF_CODON_CHANGE=Aaa/Gaa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_179599902_179600055;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TDRD5;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000294848 GT:AD:DP:GQ:PL 0/1:21,27:48:99:755,0,618
1 179600264 rs113300630 T C 45.13 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.57;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TDRD5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294848 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:76,6,0
1 179604864 rs4628468 C T 1600.97 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.51;MQ0=0;QD=34.06;SNPEFF_AMINO_ACID_CHANGE=D454;SNPEFF_CODON_CHANGE=gaC/gaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_179604802_179605022;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TDRD5;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000294848 GT:AD:DP:GQ:PL 1/1:0,47:47:99:1634,120,0
1 179605058 rs4483370 G A 667.66 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.96;MQ0=0;QD=37.09;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TDRD5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294848 GT:AD:DP:GQ:PL 1/1:0,18:18:51.17:701,51,0
1 179620253 rs6682666 G A 296.88 PASS AB=0.438;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.106;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.423;QD=18.55;ReadPosRankSum=0.318;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TDRD5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294848 GT:AD:DP:GQ:PL 0/1:7,9:16:99:327,0,238
1 179632727 rs7513095 G A 446.83 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.24;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TDRD5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294848 GT:AD:DP:GQ:PL 1/1:0,12:12:36.10:480,36,0
1 179816017 rs79921581 C G 1679.12 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.58;MQ0=0;QD=38.16;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TOR1AIP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367612 GT:AD:DP:GQ:PL 1/1:0,44:44:99:1712,123,0
1 179854026 rs10913901 A T 166.48 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TOR1AIP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271583 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:199,15,0
1 179887125 rs627897 G A 2609.17 PASS AC=2;AF=1.00;AN=2;DB;DP=76;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.6197;MQ=59.39;MQ0=0;QD=34.33;SNPEFF_AMINO_ACID_CHANGE=A296;SNPEFF_CODON_CHANGE=gcG/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_179887080_179887374;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TOR1AIP1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000325993 GT:AD:DP:GQ:PL 1/1:0,76:76:99:2642,196,0
1 180013103 rs56271885 CT C 328.69 PASS AC=2;AF=1.00;AN=2;DB;DP=9;FS=0.0;HRun=1;HaplotypeScore=22.2836;IndelType=D;MQ=61.19;MQ0=0;QD=36.52;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEP350;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367607 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:371,27,0
1 180022760 rs2040083 A T 791.30 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.68;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEP350;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000490047 GT:AD:DP:GQ:PL 1/1:0,21:21:63.18:824,63,0
1 180145088 rs2298206 A G 94.22 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.95;MQ0=0;QD=23.56;SNPEFF_AMINO_ACID_CHANGE=T145;SNPEFF_CODON_CHANGE=acA/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_180145066_180145168;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=QSOX1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367600 GT:AD:DP:GQ:PL 1/1:0,4:4:12.02:127,12,0
1 180151666 rs2242110 A T 85.86 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.62;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=QSOX1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367600 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:118,9,0
1 180151744 rs2242111 T C 84.17 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.06;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=QSOX1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367600 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:116,9,0
1 180155376 rs2298207 C G 677.73 HaplotypeScoreFilter13 AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=17.3971;MQ=60.93;MQ0=0;QD=29.47;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=QSOX1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367600 GT:AD:DP:GQ:PL 1/1:0,23:23:51.17:711,51,0
1 180155382 rs35890604 AG A 730.27 PASS AC=2;AF=1.00;AN=2;DB;DP=21;FS=0.0;HRun=2;HaplotypeScore=130.1597;IndelType=D;MQ=61.53;MQ0=0;QD=34.77;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=QSOX1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367600 GT:AD:DP:GQ:PL 1/1:1,20:21:60.19:772,60,0
1 180158875 . C G 213.79 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.831;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.134;QD=17.82;ReadPosRankSum=0.689;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=QSOX1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392029 GT:AD:DP:GQ:PL 0/1:5,7:12:99:244,0,172
1 180159797 rs3215795 TC T 1295.53 PASS AC=2;AF=1.00;AN=2;DB;DP=39;FS=0.0;HRun=3;HaplotypeScore=102.7763;IndelType=D;MQ=60.55;MQ0=0;QD=33.22;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=QSOX1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392029 GT:AD:DP:GQ:PL 1/1:3,36:39:99:1338,108,0
1 180180669 rs164980 A G 203.71 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.73;MQ0=0;QD=29.1;SNPEFF_EFFECT=INTERGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 1/1:0,7:7:18.06:237,18,0
1 180240752 rs3845397 C T 111.97 PASS AB=0.688;AC=1;AF=0.50;AN=2;BaseQRankSum=1.586;DB;DP=16;Dels=0.0;FS=6.117;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.227;QD=7.0;ReadPosRankSum=1.246;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ACBD6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000496993 GT:AD:DP:GQ:PL 0/1:11,5:16:99:142,0,352
1 180243524 rs7536561 A G 2206.52 PASS AB=0.528;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.148;DB;DP=163;Dels=0.0;FS=0.581;HRun=0;HaplotypeScore=0.0;MQ=59.72;MQ0=0;MQRankSum=-0.098;QD=13.54;ReadPosRankSum=1.318;SNPEFF_AMINO_ACID_CHANGE=N328S;SNPEFF_CODON_CHANGE=aAt/aGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_180243320_180244188;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LHX4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000263726 GT:AD:DP:GQ:PL 0/1:86,77:163:99:2237,0,2855
1 180257692 rs2254465 A C 254.58 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.29;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ACBD6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367595 GT:AD:DP:GQ:PL 1/1:0,9:9:24.07:288,24,0
1 180283659 rs2764433 T C 157.43 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.24;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ACBD6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367595 GT:AD:DP:GQ:PL 1/1:0,6:6:15.04:190,15,0
1 180366483 rs10798759 G C 334.91 PASS AB=0.421;AC=1;AF=0.50;AN=2;BaseQRankSum=3.014;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.53;MQ0=0;MQRankSum=-0.454;QD=17.63;ReadPosRankSum=1.115;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ACBD6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367595 GT:AD:DP:GQ:PL 0/1:8,11:19:99:365,0,217
1 180757056 rs3761904 A G 2073.62 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XPR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367589 GT:AD:DP:GQ:PL 1/1:0,57:57:99:2107,160,0
1 180757117 rs34984251 G GT 1194.55 PASS AC=2;AF=1.00;AN=2;DB;DP=26;FS=0.0;HRun=0;HaplotypeScore=122.5242;IndelType=I;MQ=60.83;MQ0=0;QD=45.94;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XPR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367589 GT:AD:DP:GQ:PL 1/1:0,26:26:78.27:1237,78,0
1 180803922 rs2271669 T C 425.98 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.05;MQ0=0;QD=35.5;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XPR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367589 GT:AD:DP:GQ:PL 1/1:0,12:12:36.11:459,36,0
1 180885430 rs10732273 T C 476.32 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.77;SNPEFF_AMINO_ACID_CHANGE=L64P;SNPEFF_CODON_CHANGE=cTg/cCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_180885290_180886236;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KIAA1614;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367588 GT:AD:DP:GQ:PL 1/1:0,16:16:39.12:509,39,0
1 180886039 rs61811250 C T 771.28 PASS AB=0.544;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.798;DB;DP=68;Dels=0.0;FS=3.464;HRun=0;HaplotypeScore=1.8499;MQ=60.0;MQ0=0;MQRankSum=1.268;QD=11.34;ReadPosRankSum=0.763;SNPEFF_AMINO_ACID_CHANGE=P267L;SNPEFF_CODON_CHANGE=cCc/cTc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_180885290_180886236;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KIAA1614;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367588 GT:AD:DP:GQ:PL 0/1:37,31:68:99:801,0,1241
1 180886810 rs3761905 C G 80.48 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.83;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KIAA1614;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000496210 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:113,9,0
1 180897521 rs7544551 C T 6521.12 PASS AC=2;AF=1.00;AN=2;DB;DP=205;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=3.7357;MQ=59.66;MQ0=0;QD=31.81;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KIAA1614;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367588 GT:AD:DP:GQ:PL 1/1:0,205:205:99:6521,494,0
1 180897569 rs3747958 C T 2285.83 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=5.095;DB;DP=207;Dels=0.0;FS=1.815;HRun=0;HaplotypeScore=1.5767;MQ=59.46;MQ0=0;MQRankSum=1.234;QD=11.04;ReadPosRankSum=0.472;SNPEFF_AMINO_ACID_CHANGE=T355;SNPEFF_CODON_CHANGE=acC/acT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_180897566_180897709;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KIAA1614;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367588 GT:AD:DP:GQ:PL 0/1:120,86:207:99:2316,0,3149
1 180905352 rs3795505 C T 539.73 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.282;DB;DP=52;Dels=0.0;FS=1.131;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.006;QD=10.38;ReadPosRankSum=1.326;SNPEFF_AMINO_ACID_CHANGE=S390;SNPEFF_CODON_CHANGE=agC/agT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_180904251_180905806;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KIAA1614;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367587 GT:AD:DP:GQ:PL 0/1:32,20:52:99:570,0,1031
1 180905448 rs3795504 G T 658.20 PASS AB=0.618;AC=1;AF=0.50;AN=2;BaseQRankSum=1.136;DB;DP=55;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.58;MQ0=0;MQRankSum=1.419;QD=11.97;ReadPosRankSum=2.573;SNPEFF_AMINO_ACID_CHANGE=L422F;SNPEFF_CODON_CHANGE=ttG/ttT;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_180904251_180905806;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KIAA1614;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367587 GT:AD:DP:GQ:PL 0/1:34,21:55:99:688,0,940
1 180905694 rs3795503 C T 249.88 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.288;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.39;MQ0=0;MQRankSum=-0.133;QD=13.88;ReadPosRankSum=0.4;SNPEFF_AMINO_ACID_CHANGE=N504;SNPEFF_CODON_CHANGE=aaC/aaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_180904251_180905806;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KIAA1614;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367587 GT:AD:DP:GQ:PL 0/1:8,10:18:99:280,0,266
1 180913597 rs2331995 A G 1163.98 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=59.36;MQ0=0;QD=32.33;SNPEFF_AMINO_ACID_CHANGE=N1078D;SNPEFF_CODON_CHANGE=Aac/Gac;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_180913525_180913652;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KIAA1614;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367588 GT:AD:DP:GQ:PL 1/1:0,35:36:99:1197,99,0
1 180913874 rs944234 C T 52.28 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.14;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KIAA1614;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000483705 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
1 180914304 rs944235 C T 47.34 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=15.78;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KIAA1614;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000483705 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:79,6,0
1 180953853 rs3747957 A G 306.18 PASS AB=0.458;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.796;DB;DP=24;Dels=0.0;FS=1.706;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.912;QD=12.76;ReadPosRankSum=-1.333;SNPEFF_AMINO_ACID_CHANGE=N116;SNPEFF_CODON_CHANGE=aaT/aaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_180953813_180953907;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STX6;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000542060 GT:AD:DP:GQ:PL 0/1:11,13:24:99:336,0,297
1 180958946 rs4111520 A G 97.52 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.954;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.312;QD=7.5;ReadPosRankSum=-0.312;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STX6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258301 GT:AD:DP:GQ:PL 0/1:6,7:13:99:128,0,180
1 180962526 rs34036241 C T 492.70 PASS AB=0.577;AC=1;AF=0.50;AN=2;BaseQRankSum=1.102;DB;DP=52;Dels=0.0;FS=1.05;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.472;QD=9.48;ReadPosRankSum=-0.769;SNPEFF_AMINO_ACID_CHANGE=Q112;SNPEFF_CODON_CHANGE=caG/caA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_180962499_180962561;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STX6;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000258301 GT:AD:DP:GQ:PL 0/1:30,22:52:99:523,0,970
1 181018180 rs2236411 C G 423.65 PASS AB=0.528;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.229;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=47.6;MQ0=0;MQRankSum=0.844;QD=11.77;ReadPosRankSum=1.44;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282990 GT:AD:DP:GQ:PL 0/1:19,17:36:99:454,0,548
1 181022895 rs2275469 C A 356.66 PASS AB=0.313;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.02;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.227;QD=22.29;ReadPosRankSum=0.793;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367578 GT:AD:DP:GQ:PL 0/1:5,11:16:99:387,0,160
1 181024404 rs3747956 G A 904.44 PASS AB=0.443;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.841;DB;DP=61;Dels=0.0;FS=4.01;HRun=0;HaplotypeScore=1.8319;MQ=59.62;MQ0=0;MQRankSum=-0.82;QD=14.83;ReadPosRankSum=-0.835;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367578 GT:AD:DP:GQ:PL 0/1:27,34:61:99:934,0,843
1 181057874 rs6425663 T G 35.74 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.87;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_1_181057638_181059977;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IER5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367577 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:67,6,0
1 181058540 rs3747954 G A 40.30 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=13.43;ReadPosRankSum=-0.736;SNPEFF_AMINO_ACID_CHANGE=V168I;SNPEFF_CODON_CHANGE=Gta/Ata;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_181057638_181059977;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IER5;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367577 GT:AD:DP:GQ:PL 0/1:1,2:3:33.20:70,0,33
1 181058643 rs1361365 A G 66.78 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=13.36;SNPEFF_AMINO_ACID_CHANGE=Q202R;SNPEFF_CODON_CHANGE=cAa/cGa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_181057638_181059977;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IER5;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367577 GT:AD:DP:GQ:PL 1/1:0,5:5:9.01:99,9,0
1 181058891 rs3747951 C T 151.80 PASS AB=0.654;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.29;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=0.549;QD=5.84;ReadPosRankSum=-0.42;SNPEFF_AMINO_ACID_CHANGE=P285S;SNPEFF_CODON_CHANGE=Ccc/Tcc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_181057638_181059977;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IER5;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367577 GT:AD:DP:GQ:PL 0/1:17,9:26:99:182,0,451
1 181205368 rs67918272 ACCT A 203.35 PASS AC=2;AF=1.00;AN=2;DB;DP=5;FS=0.0;HRun=0;HaplotypeScore=21.2034;IndelType=D;MQ=55.21;MQ0=0;QD=40.67;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=RP11-380B22.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000319701 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:245,15,0
1 181205722 rs10732972 C T 1141.43 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.67;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=RP11-380B22.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000319701 GT:AD:DP:GQ:PL 1/1:0,32:32:87.27:1174,87,0
1 181205821 rs9659333 A G 173.83 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.77;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=RP11-380B22.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000319701 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:207,15,0
1 181206635 rs3845425 T C 746.12 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.31;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=RP11-380B22.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000319701 GT:AD:DP:GQ:PL 1/1:0,20:20:57.19:779,57,0
1 181549547 rs10494540 T G 106.27 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.72;QD=17.71;ReadPosRankSum=-1.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA1E;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357570 GT:AD:DP:GQ:PL 0/1:2,4:6:66.40:136,0,66
1 181684605 rs12407563 A G 1207.19 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.39;MQ0=0;QD=31.77;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA1E;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357570 GT:AD:DP:GQ:PL 1/1:0,38:38:96.30:1240,96,0
1 181686216 rs7540850 T C 2870.93 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.458;DB;DP=91;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.9632;MQ=59.75;MQ0=0;MQRankSum=1.692;QD=31.55;ReadPosRankSum=1.573;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA1E;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000524607 GT:AD:DP:GQ:PL 1/1:1,90:91:99:2904,229,0
1 181686693 rs2280864 C T 51.32 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.11;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA1E;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000524607 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:83,6,0
1 181701423 rs2280865 C T 52.84 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.61;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA1E;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357570 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:84,6,0
1 181706552 rs2280866 G A 410.67 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.22;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA1E;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357570 GT:AD:DP:GQ:PL 1/1:0,12:12:33.11:444,33,0
1 181719679 rs704332 C T 505.58 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.6;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA1E;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357570 GT:AD:DP:GQ:PL 1/1:0,16:16:39.13:539,39,0
1 181724209 rs704331 A G 92.56 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.51;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA1E;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357570 GT:AD:DP:GQ:PL 1/1:0,5:5:12.01:125,12,0
1 181726413 rs704330 G A 243.58 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.8;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA1E;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357570 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:277,21,0
1 181727273 rs704329 G A 1687.85 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.6;MQ0=0;QD=35.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA1E;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357570 GT:AD:DP:GQ:PL 1/1:0,47:47:99:1721,129,0
1 181727593 rs199917 T C 86.78 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.93;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA1E;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357570 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:119,9,0
1 181740201 rs199928 T C 51.75 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA1E;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357570 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:83,6,0
1 181750469 rs704328 G T 403.12 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.79;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA1E;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357570 GT:AD:DP:GQ:PL 1/1:0,14:14:33.11:436,33,0
1 181752769 rs112594566 A AT 1404.69 PASS AB=0.599;AC=1;AF=0.50;AN=2;BaseQRankSum=1.443;DB;DP=103;FS=1.288;HRun=14;HaplotypeScore=558.2548;IndelType=I;MQ=53.36;MQ0=0;MQRankSum=-0.015;QD=13.64;ReadPosRankSum=-0.159;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA1E;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357570 GT:AD:DP:GQ:PL 0/1:33,62:103:68.30:1444,0,68
1 181752923 rs36163765 AAGCTT A 6324.25 PASS AC=2;AF=1.00;AN=2;DB;DP=117;FS=0.0;HRun=0;HaplotypeScore=702.964;IndelType=D;MQ=52.83;MQ0=0;QD=54.05;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA1E;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357570 GT:AD:DP:GQ:PL 1/1:13,104:117:99:6324,316,0
1 181753030 rs546191 T C 1396.69 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.04;MQ0=0;QD=38.8;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA1E;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357570 GT:AD:DP:GQ:PL 1/1:0,36:36:99:1430,108,0
1 181759657 rs704326 G A 4766.75 PASS AC=2;AF=1.00;AN=2;DB;DP=137;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.4679;MQ=58.81;MQ0=0;QD=34.79;SNPEFF_AMINO_ACID_CHANGE=A1562T;SNPEFF_CODON_CHANGE=Gcc/Acc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_181759581_181759692;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA1E;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367567 GT:AD:DP:GQ:PL 1/1:0,136:137:99:4767,364,0
1 181767983 rs144714729 C G 205.19 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.239;DB;DP=21;Dels=0.0;FS=1.808;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.67;QD=9.77;ReadPosRankSum=-0.249;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA1E;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357570 GT:AD:DP:GQ:PL 0/1:12,9:21:99:235,0,440
1 182354850 rs2296520 A G 3516.55 PASS AB=0.469;AC=1;AF=0.50;AN=2;BaseQRankSum=2.703;DB;DP=241;Dels=0.0;FS=1.015;HRun=0;HaplotypeScore=2.3654;MQ=59.44;MQ0=0;MQRankSum=-2.398;QD=14.59;ReadPosRankSum=-2.536;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GLUL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462444 GT:AD:DP:GQ:PL 0/1:113,128:241:99:3517,0,3424
1 182355046 rs2296519 A G 1158.57 PASS AB=0.519;AC=1;AF=0.50;AN=2;BaseQRankSum=1.413;DB;DP=81;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=-0.09;QD=14.3;ReadPosRankSum=-0.477;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GLUL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462444 GT:AD:DP:GQ:PL 0/1:42,39:81:99:1189,0,1308
1 182356247 rs17462824 T C 536.02 PASS AB=0.627;AC=1;AF=0.50;AN=2;BaseQRankSum=0.749;DB;DP=51;Dels=0.0;FS=5.556;HRun=0;HaplotypeScore=3.6874;MQ=60.0;MQ0=0;MQRankSum=0.728;QD=10.51;ReadPosRankSum=0.503;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GLUL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000311223 GT:AD:DP:GQ:PL 0/1:32,19:51:99:566,0,866
1 182356399 rs1058111 A G 720.96 PASS AB=0.594;AC=1;AF=0.50;AN=2;BaseQRankSum=0.189;DB;DP=69;Dels=0.0;FS=0.939;HRun=1;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=-0.947;QD=10.45;ReadPosRankSum=-1.582;SNPEFF_AMINO_ACID_CHANGE=S65;SNPEFF_CODON_CHANGE=tcT/tcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_182356266_182356427;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GLUL;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000311223 GT:AD:DP:GQ:PL 0/1:41,28:69:99:751,0,1340
1 182369078 rs6698722 G A 1336.31 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.74;MQ0=0;QD=36.12;SNPEFF_AMINO_ACID_CHANGE=P181;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_182367252_182369751;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TEDDM1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367565 GT:AD:DP:GQ:PL 1/1:0,37:37:99:1369,102,0
1 182369233 rs6674281 A G 1146.68 PASS AB=0.522;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.489;DB;DP=92;Dels=0.0;FS=2.972;HRun=0;HaplotypeScore=0.9947;MQ=59.29;MQ0=0;MQRankSum=-0.34;QD=12.46;ReadPosRankSum=0.004;SNPEFF_AMINO_ACID_CHANGE=Y130H;SNPEFF_CODON_CHANGE=Tat/Cat;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_182367252_182369751;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TEDDM1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367565 GT:AD:DP:GQ:PL 0/1:48,44:92:99:1177,0,1554
1 182369738 rs7551829 G A 85.72 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.43;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_1_182367252_182369751;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TEDDM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367565 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:118,9,0
1 182377078 rs10797774 A G 319.32 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.39;MQ0=0;QD=35.48;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=NCRNA00272;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367563 GT:AD:DP:GQ:PL 1/1:0,9:9:27.08:352,27,0
1 182377180 rs68029644 CA C 282.57 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.274;DB;DP=14;FS=0.0;HRun=2;HaplotypeScore=83.6744;IndelType=D;MQ=60.0;MQ0=0;MQRankSum=-1.369;QD=20.18;ReadPosRankSum=-2.1;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=NCRNA00272;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367563 GT:AD:DP:GQ:PL 1/1:6,8:14:28:325,28,0
1 182429295 rs10572829 CTG C 499.36 PASS AC=2;AF=1.00;AN=2;DB;DP=23;FS=0.0;HRun=0;HaplotypeScore=87.7594;IndelType=D;MQ=60.93;MQ0=0;QD=21.71;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=antisense;SNPEFF_GENE_NAME=RGSL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427189 GT:AD:DP:GQ:PL 1/1:7,15:23:47.97:541,48,0
1 182491107 rs607269 A C 761.46 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.78;MQ0=0;QD=40.08;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=antisense;SNPEFF_GENE_NAME=RGSL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294854 GT:AD:DP:GQ:PL 1/1:0,19:19:57.19:794,57,0
1 182496829 rs7535533 A G 2755.54 PASS AC=2;AF=1.00;AN=2;DB;DP=81;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.72;MQ0=0;QD=34.02;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=antisense;SNPEFF_GENE_NAME=RGSL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294854 GT:AD:DP:GQ:PL 1/1:0,81:81:99:2789,208,0
1 182497021 rs266511 C A 196.40 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.55;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=antisense;SNPEFF_GENE_NAME=RGSL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294854 GT:AD:DP:GQ:PL 1/1:0,8:8:18.05:229,18,0
1 182501933 rs266534 C A 6020.65 PASS AC=2;AF=1.00;AN=2;DB;DP=179;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.179;MQ=59.74;MQ0=0;QD=33.63;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=antisense;SNPEFF_GENE_NAME=RGSL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456971 GT:AD:DP:GQ:PL 1/1:1,178:179:99:6021,448,0
1 182502033 rs266535 G T 2949.04 PASS AC=2;AF=1.00;AN=2;DB;DP=78;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.7;MQ0=0;QD=37.81;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=antisense;SNPEFF_GENE_NAME=RGSL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456971 GT:AD:DP:GQ:PL 1/1:0,78:78:99:2982,217,0
1 182509269 rs266531 G A 459.90 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.33;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=antisense;SNPEFF_GENE_NAME=RGSL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294854 GT:AD:DP:GQ:PL 1/1:0,12:12:36.12:493,36,0
1 182509292 rs3856115 A G 674.13 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.64;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=antisense;SNPEFF_GENE_NAME=RGSL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294854 GT:AD:DP:GQ:PL 1/1:0,22:22:63.16:707,63,0
1 182509617 rs3911280 C A 1221.50 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.02;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=antisense;SNPEFF_GENE_NAME=RGSL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294854 GT:AD:DP:GQ:PL 1/1:0,33:33:99:1255,99,0
1 182509646 rs12749557 T C 825.87 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.41;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=antisense;SNPEFF_GENE_NAME=RGSL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294854 GT:AD:DP:GQ:PL 1/1:0,24:24:66.20:859,66,0
1 182517238 rs9787011 C A 49.41 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=16.47;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=antisense;SNPEFF_GENE_NAME=RGSL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294854 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:81,6,0
1 182517357 rs6657620 G C 1456.84 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.6828;MQ=58.81;MQ0=0;QD=37.35;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=antisense;SNPEFF_GENE_NAME=RGSL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294854 GT:AD:DP:GQ:PL 1/1:0,38:39:99:1490,111,0
1 182545221 rs672527 C T 244.81 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.97;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RNASEL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000539397 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:278,21,0
1 182550200 rs501286 A G 582.14 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.34;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RNASEL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367559 GT:AD:DP:GQ:PL 1/1:0,18:18:54.13:615,54,0
1 182551337 rs627928 A C 3630.16 PASS AC=2;AF=1.00;AN=2;DB;DP=106;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9159;MQ=59.61;MQ0=0;QD=34.25;SNPEFF_AMINO_ACID_CHANGE=D541E;SNPEFF_CODON_CHANGE=gaT/gaG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_182551188_182551393;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RNASEL;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367559 GT:AD:DP:GQ:PL 1/1:0,106:106:99:3630,268,0
1 182554557 rs486907 C T 572.17 PASS AB=0.465;AC=1;AF=0.50;AN=2;BaseQRankSum=0.189;DB;DP=43;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=59.46;MQ0=0;MQRankSum=-0.617;QD=13.31;ReadPosRankSum=-1.121;SNPEFF_AMINO_ACID_CHANGE=R106Q;SNPEFF_CODON_CHANGE=cGa/cAa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_182554462_182556105;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RNASEL;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000543858 GT:AD:DP:GQ:PL 0/1:20,23:43:99:602,0,637
1 182556036 rs3738579 A G 610.24 PASS AB=0.424;AC=1;AF=0.50;AN=2;BaseQRankSum=1.458;DB;DP=33;Dels=0.0;FS=2.927;HRun=0;HaplotypeScore=0.0;MQ=59.3;MQ0=0;MQRankSum=0.345;QD=18.49;ReadPosRankSum=-0.038;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_1_182554462_182556105;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RNASEL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367559 GT:AD:DP:GQ:PL 0/1:14,19:33:99:640,0,425
1 182569626 rs1144566 T C 902.69 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.55;MQ0=0;QD=28.21;SNPEFF_AMINO_ACID_CHANGE=H137R;SNPEFF_CODON_CHANGE=cAc/cGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_182567758_182569648;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGS16;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367558 GT:AD:DP:GQ:PL 1/1:0,32:32:75.23:936,75,0
1 182571003 rs610367 C T 303.09 PASS AB=0.313;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.926;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.55;MQ0=0;MQRankSum=-1.359;QD=18.94;ReadPosRankSum=-2.039;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGS16;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367558 GT:AD:DP:GQ:PL 0/1:5,11:16:99:333,0,164
1 182616136 rs1758779 G T 238.88 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.625;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.33;MQ0=0;MQRankSum=0.865;QD=17.06;ReadPosRankSum=-0.627;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGS8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258302 GT:AD:DP:GQ:PL 0/1:6,8:14:99:269,0,209
1 182640638 rs567397 A G 36.83 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.358;QD=7.37;ReadPosRankSum=1.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGS8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258302 GT:AD:DP:GQ:PL 0/1:3,2:5:66.83:67,0,112
1 182640851 rs569956 T G 590.91 PASS AB=0.387;AC=1;AF=0.50;AN=2;BaseQRankSum=1.399;DB;DP=31;Dels=0.0;FS=8.607;HRun=0;HaplotypeScore=1.6208;MQ=60.0;MQ0=0;MQRankSum=0.264;QD=19.06;ReadPosRankSum=0.75;SNPEFF_AMINO_ACID_CHANGE=R7;SNPEFF_CODON_CHANGE=cgA/cgC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_182640792_182640865;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGS8;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000258302 GT:AD:DP:GQ:PL 0/1:12,19:31:99:621,0,335
1 182640864 rs680277 T C 482 PASS AB=0.348;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.259;DB;DP=23;Dels=0.0;FS=10.667;HRun=0;HaplotypeScore=2.4095;MQ=60.0;MQ0=0;MQRankSum=-0.807;QD=20.96;ReadPosRankSum=-1.194;SNPEFF_AMINO_ACID_CHANGE=N3S;SNPEFF_CODON_CHANGE=aAc/aGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_182640792_182640865;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGS8;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000258302 GT:AD:DP:GQ:PL 0/1:8,15:23:99:512,0,246
1 182640994 rs681081 T C 172.20 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.572;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.067;QD=21.53;ReadPosRankSum=1.067;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGS8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258302 GT:AD:DP:GQ:PL 0/1:2,6:8:53.73:202,0,54
1 182641018 rs681111 A G 125.08 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.731;QD=25.02;ReadPosRankSum=0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGS8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258302 GT:AD:DP:GQ:PL 0/1:1,4:5:24.26:155,0,24
1 182772804 rs61010723 A C 178.27 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.097;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.323;QD=12.73;ReadPosRankSum=0.452;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NPL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258317 GT:AD:DP:GQ:PL 0/1:8,6:14:99:208,0,254
1 182778367 rs971040 G A 257.21 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.74;SNPEFF_AMINO_ACID_CHANGE=R93Q;SNPEFF_CODON_CHANGE=cGg/cAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_182778320_182778419;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NPL;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367550 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:290,21,0
1 182784022 rs2275171 T C 301.41 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.938;DB;DP=30;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.022;QD=10.05;ReadPosRankSum=-1.593;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NPL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460690 GT:AD:DP:GQ:PL 0/1:14,16:30:99:331,0,482
1 182794901 rs113382299 G GT 1378.10 PASS AB=0.67;AC=1;AF=0.50;AN=2;BaseQRankSum=-7.063;DB;DP=77;FS=3.987;HRun=2;HaplotypeScore=158.0025;IndelType=I;MQ=59.6;MQ0=0;MQRankSum=1.15;QD=17.9;ReadPosRankSum=0.079;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NPL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258317 GT:AD:DP:GQ:PL 0/1:39,38:77:99:1417,0,1140
1 182798081 rs41272518 T C 684.07 PASS AB=0.476;AC=1;AF=0.50;AN=2;BaseQRankSum=2.33;DB;DP=42;Dels=0.0;FS=5.772;HRun=0;HaplotypeScore=0.0;MQ=59.56;MQ0=0;MQRankSum=-0.038;QD=16.29;ReadPosRankSum=2.053;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NPL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463899 GT:AD:DP:GQ:PL 0/1:20,22:42:99:714,0,522
1 182798924 rs1045971 G T 80.22 PASS AB=0.733;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.24;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.24;QD=5.01;ReadPosRankSum=1.11;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NPL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258317 GT:AD:DP:GQ:PL 0/1:11,4:16:99:110,0,391
1 182812584 rs6704129 C T 667.25 PASS AB=0.564;AC=1;AF=0.50;AN=2;BaseQRankSum=1.767;DB;DP=55;Dels=0.0;FS=2.39;HRun=0;HaplotypeScore=0.7887;MQ=59.58;MQ0=0;MQRankSum=1.314;QD=12.13;ReadPosRankSum=-0.583;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DHX9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367549 GT:AD:DP:GQ:PL 0/1:31,24:55:99:697,0,864
1 182822367 rs75306569 A G 356.70 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.788;DB;DP=16;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.55;MQ0=0;MQRankSum=-2.001;QD=22.29;ReadPosRankSum=-1.395;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DHX9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367549 GT:AD:DP:GQ:PL 0/1:4,12:16:99:387,0,114
1 182825748 rs3737219 C T 498.24 PASS AB=0.393;AC=1;AF=0.50;AN=2;BaseQRankSum=1.223;DB;DP=28;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.6483;MQ=60.0;MQ0=0;MQRankSum=2.258;QD=17.79;ReadPosRankSum=0.659;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DHX9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479271 GT:AD:DP:GQ:PL 0/1:11,17:28:99:528,0,323
1 182836230 rs74129612 G T 277.29 PASS AB=0.621;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.034;DB;DP=29;Dels=0.0;FS=4.21;HRun=0;HaplotypeScore=0.0;MQ=59.36;MQ0=0;MQRankSum=1.236;QD=9.56;ReadPosRankSum=-0.697;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DHX9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367549 GT:AD:DP:GQ:PL 0/1:18,11:29:99:307,0,662
1 182844020 rs11332 C T 1191.71 PASS AB=0.542;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.246;DB;DP=97;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.055;QD=12.29;ReadPosRankSum=-0.842;SNPEFF_AMINO_ACID_CHANGE=T582;SNPEFF_CODON_CHANGE=acC/acT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_182843989_182844089;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DHX9;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367549 GT:AD:DP:GQ:PL 0/1:52,44:97:99:1222,0,1739
1 182845701 rs41312714 G A 97.54 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=1.2;DB;DP=14;Dels=0.0;FS=4.472;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.6;QD=6.97;ReadPosRankSum=0.8;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DHX9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000399175 GT:AD:DP:GQ:PL 0/1:9,5:14:99:128,0,315
1 182850727 rs6677840 T C 3525.34 PASS AC=2;AF=1.00;AN=2;DB;DP=106;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.26;SNPEFF_AMINO_ACID_CHANGE=T953;SNPEFF_CODON_CHANGE=acT/acC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_182850655_182850782;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DHX9;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367549 GT:AD:DP:GQ:PL 1/1:0,105:106:99:3525,271,0
1 182854017 rs3130492 G A 743.29 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.16;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DHX9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474446 GT:AD:DP:GQ:PL 1/1:0,20:20:57.19:776,57,0
1 182856140 rs58683831 CTA C 292.56 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=3.665;DB;DP=20;FS=0.0;HRun=0;HaplotypeScore=62.902;IndelType=D;MQ=58.84;MQ0=0;MQRankSum=-0.964;QD=14.63;ReadPosRankSum=0.424;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DHX9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367549 GT:AD:DP:GQ:PL 0/1:12,8:20:99:332,0,672
1 182909262 rs55823015 C T 48.77 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SHCBP1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287709 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:80,6,0
1 182920712 rs6424877 G T 289.96 PASS AB=0.45;AC=1;AF=0.50;AN=2;BaseQRankSum=0.38;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.66;MQ0=0;MQRankSum=0.076;QD=14.5;ReadPosRankSum=0.684;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SHCBP1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287709 GT:AD:DP:GQ:PL 0/1:9,11:20:99:320,0,274
1 182993025 rs10911194 C T 244.55 PASS AB=0.353;AC=1;AF=0.50;AN=2;BaseQRankSum=1.813;DB;DP=17;Dels=0.0;FS=2.869;HRun=2;HaplotypeScore=0.0;MQ=58.35;MQ0=0;MQRankSum=0.906;QD=14.39;ReadPosRankSum=-1.133;SNPEFF_AMINO_ACID_CHANGE=A58;SNPEFF_CODON_CHANGE=gcC/gcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_182992597_182993269;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMC1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000258341 GT:AD:DP:GQ:PL 0/1:6,11:17:99:275,0,141
1 183072590 rs2296288 T C 552.76 PASS AB=0.511;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.984;DB;DP=45;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.329;QD=12.28;ReadPosRankSum=-0.443;SNPEFF_AMINO_ACID_CHANGE=C182;SNPEFF_CODON_CHANGE=tgT/tgC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_183072463_183072767;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMC1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000258341 GT:AD:DP:GQ:PL 0/1:23,22:45:99:583,0,824
1 183072786 rs61811798 G T 40.06 PASS AB=0.8;AC=1;AF=0.50;AN=2;BaseQRankSum=0.35;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.84;MQ0=0;MQRankSum=0.65;QD=2.0;ReadPosRankSum=-1.75;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258341 GT:AD:DP:GQ:PL 0/1:16,4:20:70.05:70,0,473
1 183072908 rs10797835 T C 52.87 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.21;MQ0=0;MQRankSum=0.358;QD=10.57;ReadPosRankSum=0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258341 GT:AD:DP:GQ:PL 0/1:2,3:5:67.95:83,0,68
1 183077296 rs3835273 A AG 287.84 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.849;DB;DP=20;FS=0.0;HRun=0;HaplotypeScore=47.0227;IndelType=I;MQ=60.54;MQ0=0;MQRankSum=-0.867;QD=14.39;ReadPosRankSum=-0.372;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258341 GT:AD:DP:GQ:PL 0/1:12,8:20:99:327,0,397
1 183077615 rs3765521 C T 286.07 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.048;DB;DP=17;Dels=0.0;FS=6.864;HRun=0;HaplotypeScore=0.9998;MQ=60.0;MQ0=0;MQRankSum=0.337;QD=16.83;ReadPosRankSum=1.01;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258341 GT:AD:DP:GQ:PL 0/1:8,9:17:99:316,0,233
1 183077618 rs3765522 C T 292.43 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=1.973;DB;DP=17;Dels=0.0;FS=6.864;HRun=1;HaplotypeScore=0.9998;MQ=60.0;MQ0=0;MQRankSum=-1.395;QD=17.2;ReadPosRankSum=1.491;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258341 GT:AD:DP:GQ:PL 0/1:8,9:17:99:322,0,234
1 183079509 rs2296291 C T 174.86 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=0.135;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.309;QD=14.57;ReadPosRankSum=0.244;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258341 GT:AD:DP:GQ:PL 0/1:5,7:12:99:205,0,175
1 183079853 rs6672093 T C 560.03 PASS AB=0.511;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.02;DB;DP=47;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.5773;MQ=59.01;MQ0=0;MQRankSum=0.637;QD=11.92;ReadPosRankSum=0.747;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484114 GT:AD:DP:GQ:PL 0/1:24,23:47:99:590,0,755
1 183085568 rs6424887 C T 41.52 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=13.84;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258341 GT:AD:DP:GQ:PL 0/1:1,2:3:32.20:72,0,32
1 183085696 rs6424888 A G 207.55 PASS AB=0.64;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.689;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.13;MQ0=0;MQRankSum=1.33;QD=8.3;ReadPosRankSum=1.387;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258341 GT:AD:DP:GQ:PL 0/1:16,9:25:99:238,0,519
1 183085755 rs20563 A G 273.87 PASS AB=0.706;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.359;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.07;MQ0=0;MQRankSum=0.548;QD=8.05;ReadPosRankSum=0.661;SNPEFF_AMINO_ACID_CHANGE=I458V;SNPEFF_CODON_CHANGE=Att/Gtt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_183085712_183085810;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMC1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000258341 GT:AD:DP:GQ:PL 0/1:24,10:34:99:304,0,841
1 183086190 rs10911253 T C 86.56 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.568;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9958;MQ=60.0;MQ0=0;MQRankSum=-0.365;QD=7.87;ReadPosRankSum=0.741;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479499 GT:AD:DP:GQ:PL 0/1:6,4:11:99:117,0,202
1 183086757 rs2296292 A C 1322.30 PASS AB=0.435;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.591;DB;DP=85;Dels=0.0;FS=4.224;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.306;QD=15.56;ReadPosRankSum=-0.412;SNPEFF_AMINO_ACID_CHANGE=A592;SNPEFF_CODON_CHANGE=gcA/gcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_183086669_183086858;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMC1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000258341 GT:AD:DP:GQ:PL 0/1:37,48:85:99:1352,0,1159
1 183087485 rs10797846 A T 91.60 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.53;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479499 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:124,9,0
1 183087515 rs16860221 A C 89.75 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.92;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479499 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:122,9,0
1 183090751 rs2333621 A G 115.33 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=1.3;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.55;QD=16.48;ReadPosRankSum=0.55;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479499 GT:AD:DP:GQ:PL 0/1:3,4:7:99:145,0,103
1 183093875 rs20557 T C 707.31 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.208;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.53;MQ0=0;MQRankSum=0.043;QD=17.68;ReadPosRankSum=2.035;SNPEFF_AMINO_ACID_CHANGE=N837;SNPEFF_CODON_CHANGE=aaT/aaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_183093766_183094011;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMC1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000258341 GT:AD:DP:GQ:PL 0/1:16,24:40:99:737,0,475
1 183094314 rs2093984 T C 46.56 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.28;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258341 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:78,6,0
1 183094322 rs2093985 C T 52.22 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.11;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258341 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:83,6,0
1 183094547 rs20558 T C 401.32 PASS AB=0.595;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.964;DB;DP=42;Dels=0.0;FS=2.68;HRun=1;HaplotypeScore=0.0;MQ=59.45;MQ0=0;MQRankSum=-1.43;QD=9.56;ReadPosRankSum=0.494;SNPEFF_AMINO_ACID_CHANGE=L888P;SNPEFF_CODON_CHANGE=cTg/cCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_183094532_183094685;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMC1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000258341 GT:AD:DP:GQ:PL 0/1:25,17:42:99:431,0,707
1 183095234 rs1886501 A G 367.85 PASS AB=0.536;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.499;DB;DP=28;Dels=0.0;FS=1.856;HRun=0;HaplotypeScore=0.9665;MQ=59.17;MQ0=0;MQRankSum=-0.995;QD=13.14;ReadPosRankSum=-0.655;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258341 GT:AD:DP:GQ:PL 0/1:15,13:28:99:398,0,501
1 183095477 rs2296293 G A 328.17 PASS AB=0.313;AC=1;AF=0.50;AN=2;BaseQRankSum=0.566;DB;DP=17;Dels=0.0;FS=2.933;HRun=1;HaplotypeScore=0.9999;MQ=60.0;MQ0=0;MQRankSum=1.02;QD=19.3;ReadPosRankSum=-1.02;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258341 GT:AD:DP:GQ:PL 0/1:5,11:17:99:358,0,144
1 183095596 rs2296294 T C 37.29 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.64;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258341 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:69,6,0
1 183096634 rs1413390 G A 96.02 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=0.678;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=8.73;ReadPosRankSum=-0.597;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258341 GT:AD:DP:GQ:PL 0/1:7,4:11:99:126,0,258
1 183096668 rs1413389 C T 67.68 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.537;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=11.28;ReadPosRankSum=0.406;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258341 GT:AD:DP:GQ:PL 0/1:3,3:6:97.67:98,0,103
1 183096694 rs1413388 T C 86.17 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=21.54;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258341 GT:AD:DP:GQ:PL 0/1:1,3:4:23.21:116,0,23
1 183097956 rs34133998 G GTTA 329.95 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=0.101;DB;DP=14;FS=0.0;HRun=0;HaplotypeScore=55.9083;IndelType=I;MQ=57.05;MQ0=0;MQRankSum=-2.074;QD=23.57;ReadPosRankSum=0.66;SNPEFF_EFFECT=SPLICE_SITE_DONOR;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMC1;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000478064 GT:AD:DP:GQ:PL 0/1:8,6:14:99:369,0,311
1 183098001 rs10797851 A G 153.55 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.361;QD=17.06;ReadPosRankSum=-0.729;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466964 GT:AD:DP:GQ:PL 0/1:4,5:9:99:184,0,142
1 183099380 rs1360704 T C 85.47 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.246;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=57.87;MQ0=0;MQRankSum=-1.398;QD=7.77;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466964 GT:AD:DP:GQ:PL 0/1:7,4:11:99:115,0,239
1 183099401 rs144561389 A G 250.29 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.887;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.45;MQ0=0;MQRankSum=-0.177;QD=16.69;ReadPosRankSum=1.709;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466964 GT:AD:DP:GQ:PL 0/1:6,9:15:99:280,0,199
1 183099560 rs20559 G A 521.42 PASS AB=0.62;AC=1;AF=0.50;AN=2;BaseQRankSum=1.959;DB;DP=50;Dels=0.0;FS=1.122;HRun=0;HaplotypeScore=1.8874;MQ=58.13;MQ0=0;MQRankSum=-0.859;QD=10.43;ReadPosRankSum=-0.14;SNPEFF_AMINO_ACID_CHANGE=R1121Q;SNPEFF_CODON_CHANGE=cGg/cAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_183099479_183099684;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMC1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000258341 GT:AD:DP:GQ:PL 0/1:31,19:50:99:551,0,889
1 183099701 rs2296300 G A 130.85 PASS AB=0.69;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.03;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.5435;MQ=58.39;MQ0=0;MQRankSum=1.004;QD=4.51;ReadPosRankSum=-2.1;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466964 GT:AD:DP:GQ:PL 0/1:20,9:29:99:161,0,620
1 183100555 rs2333620 T C 511.44 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.383;DB;DP=49;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=8.7751;MQ=54.08;MQ0=0;MQRankSum=-0.076;QD=10.44;ReadPosRankSum=-0.986;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466964 GT:AD:DP:GQ:PL 0/1:24,24:49:99:541,0,641
1 183100563 rs55951405 G GGT 302.54 PASS AB=0.867;AC=1;AF=0.50;AN=2;BaseQRankSum=1.565;DB;DP=39;FS=0.0;HRun=0;HaplotypeScore=402.4826;IndelType=I;MQ=51.08;MQ0=0;MQRankSum=-0.522;QD=7.76;ReadPosRankSum=-2.311;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466964 GT:AD:DP:GQ:PL 0/1:32,5:39:2.46:340,0,2
1 183100563 rs4997370 G T 112.40 PASS AB=0.588;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.856;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=8.7751;MQ=53.57;MQ0=0;MQRankSum=1.73;QD=3.31;ReadPosRankSum=-0.856;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466964 GT:AD:DP:GQ:PL 0/1:20,14:34:99:142,0,534
1 183101444 rs12071514 A C 60.21 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.562;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=4.9994;MQ=53.52;MQ0=0;MQRankSum=-0.637;QD=4.01;ReadPosRankSum=-1.099;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466964 GT:AD:DP:GQ:PL 0/1:8,7:15:90.21:90,0,252
1 183101451 rs12066735 T G 64.83 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.318;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=7.9857;MQ=52.81;MQ0=0;MQRankSum=-1.905;QD=3.81;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466964 GT:AD:DP:GQ:PL 0/1:9,7:17:94.82:95,0,281
1 183101471 rs12061219 G A 276.82 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.232;DB;DP=26;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=55.4;MQ0=0;MQRankSum=-1.615;QD=10.65;ReadPosRankSum=0.082;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466964 GT:AD:DP:GQ:PL 0/1:14,12:26:99:307,0,431
1 183101686 rs12095664 G A 303.77 PASS AB=0.593;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.609;DB;DP=27;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=0.519;QD=11.25;ReadPosRankSum=0.571;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466964 GT:AD:DP:GQ:PL 0/1:16,11:27:99:334,0,519
1 183103551 rs3768616 T C 31.80 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.026;QD=7.95;ReadPosRankSum=1.026;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478064 GT:AD:DP:GQ:PL 0/1:2,2:4:61.79:62,0,67
1 183104013 rs2296299 G A 1141.22 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.653;DB;DP=80;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.8315;MQ=59.71;MQ0=0;MQRankSum=-0.534;QD=14.27;ReadPosRankSum=1.692;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478064 GT:AD:DP:GQ:PL 0/1:40,40:80:99:1171,0,1260
1 183104340 rs35182436 AT A 274.73 PASS AB=0.654;AC=1;AF=0.50;AN=2;BaseQRankSum=2.245;DB;DP=34;FS=1.792;HRun=11;HaplotypeScore=106.8482;IndelType=D;MQ=59.45;MQ0=0;MQRankSum=-0.271;QD=8.08;ReadPosRankSum=-0.913;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478064 GT:AD:DP:GQ:PL 0/1:16,18:34:99:314,0,244
1 183104527 rs12026314 T C 71.30 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.77;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478064 GT:AD:DP:GQ:PL 1/1:0,3:3:9.01:103,9,0
1 183104552 rs4652779 G A 49.41 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.7;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478064 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
1 183105324 rs2296297 C T 39.04 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=9.76;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478064 GT:AD:DP:GQ:PL 0/1:2,2:4:69.04:69,0,71
1 183105399 rs2296296 C G 90.83 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.929;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.289;QD=7.57;ReadPosRankSum=0.929;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478064 GT:AD:DP:GQ:PL 0/1:8,4:12:99:121,0,291
1 183105534 rs20560 T C 796.26 PASS AB=0.515;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.104;DB;DP=68;Dels=0.0;FS=5.105;HRun=0;HaplotypeScore=1.7834;MQ=60.0;MQ0=0;MQRankSum=0.061;QD=11.71;ReadPosRankSum=-0.528;SNPEFF_AMINO_ACID_CHANGE=R1376;SNPEFF_CODON_CHANGE=cgT/cgC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_183105521_183105720;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMC1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000258341 GT:AD:DP:GQ:PL 0/1:35,33:68:99:826,0,1062
1 183106739 rs10797854 G A 68.98 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=1.221;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.322;QD=8.62;ReadPosRankSum=0.322;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478064 GT:AD:DP:GQ:PL 0/1:5,3:8:98.98:99,0,170
1 183112041 rs3359 G C 204.28 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.447;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.91;QD=13.62;ReadPosRankSum=0.058;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258341 GT:AD:DP:GQ:PL 0/1:8,7:15:99:234,0,277
1 183176970 rs11480551 G GTT 1347.47 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.609;DB;DP=69;FS=0.0;HRun=15;HaplotypeScore=758.778;IndelType=I;MQ=44.73;MQ0=0;MQRankSum=-0.567;QD=19.53;ReadPosRankSum=-2.544;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264144 GT:AD:DP:GQ:PL 1/1:20,21:69:67.29:1390,67,0
1 183177218 rs647347 A G 4541.03 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.853;DB;DP=136;DS;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=4.4956;MQ=58.63;MQ0=0;MQRankSum=-0.284;QD=33.39;ReadPosRankSum=-0.233;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264144 GT:AD:DP:GQ:PL 1/1:1,134:136:99:4541,314,0
1 183205523 rs34154823 CAAA C 74.57 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-2.359;DB;DP=17;FS=0.0;HRun=18;HaplotypeScore=116.2837;IndelType=D;MQ=52.81;MQ0=0;MQRankSum=-1.408;QD=4.39;ReadPosRankSum=0.143;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264144 GT:AD:DP:GQ:PL 1/1:7,5:17:0.85:112,1,0
1 183230516 rs67770192 ATCCGC A 560.40 PASS AC=2;AF=1.00;AN=2;DB;DP=9;FS=0.0;HRun=0;HaplotypeScore=57.5516;IndelType=D;MQ=48.72;MQ0=0;QD=62.27;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NMNAT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287713 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:602,27,0
1 183486859 rs789169 G A 1796.91 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.04;MQ0=0;QD=33.9;SNPEFF_AMINO_ACID_CHANGE=L101;SNPEFF_CODON_CHANGE=ctG/ctA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_183486823_183486955;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=SMG7;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367537 GT:AD:DP:GQ:PL 1/1:0,53:53:99:1830,135,0
1 183496658 rs2877978 A G 51.13 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.054;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.573;QD=5.68;ReadPosRankSum=-1.203;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=SMG7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000444547 GT:AD:DP:GQ:PL 0/1:6,3:9:81.12:81,0,219
1 183516241 rs3768589 C T 517.23 PASS AB=0.596;AC=1;AF=0.50;AN=2;BaseQRankSum=0.379;DB;DP=47;Dels=0.0;FS=3.13;HRun=0;HaplotypeScore=0.0;MQ=58.71;MQ0=0;MQRankSum=0.835;QD=11.0;ReadPosRankSum=-0.141;SNPEFF_AMINO_ACID_CHANGE=P870S;SNPEFF_CODON_CHANGE=Ccc/Tcc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_183516238_183516387;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=SMG7;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000507469 GT:AD:DP:GQ:PL 0/1:28,19:47:99:547,0,889
1 183525452 rs699244 T G 373.65 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.36;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NCF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469280 GT:AD:DP:GQ:PL 1/1:0,10:10:30.10:407,30,0
1 183532200 rs3845461 G A 56.17 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.55;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.05;MQ0=0;MQRankSum=0.55;QD=7.02;ReadPosRankSum=-0.55;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NCF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000419402 GT:AD:DP:GQ:PL 0/1:5,3:8:86.16:86,0,138
1 183555976 . C A 331.89 PASS AB=0.536;AC=1;AF=0.50;AN=2;BaseQRankSum=1.189;DP=28;Dels=0.0;FS=1.882;HRun=1;HaplotypeScore=0.0;MQ=59.17;MQ0=0;MQRankSum=-1.14;QD=11.85;ReadPosRankSum=-2.062;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NCF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367535 GT:AD:DP:GQ:PL 0/1:15,13:28:99:362,0,440
1 183556291 rs789192 A G 655.84 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.81;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NCF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367535 GT:AD:DP:GQ:PL 1/1:0,22:22:54.14:689,54,0
1 183592416 rs2761573 G T 79.85 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.62;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARPC5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294742 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:112,9,0
1 183592570 rs17488675 C T 1018.02 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.4942;MQ=59.23;MQ0=0;QD=33.93;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARPC5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294742 GT:AD:DP:GQ:PL 1/1:0,30:30:78.25:1051,78,0
1 183604905 rs2767305 A G 663.90 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.18;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARPC5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294742 GT:AD:DP:GQ:PL 1/1:0,22:22:57.15:697,57,0
1 183616687 rs1174656 G A 744.83 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.47;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=APOBEC4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481562 GT:AD:DP:GQ:PL 1/1:0,21:21:63.20:778,63,0
1 183616926 rs1174657 T C 3289.79 PASS AC=2;AF=1.00;AN=2;DB;DP=107;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9734;MQ=59.74;MQ0=0;QD=30.75;SNPEFF_AMINO_ACID_CHANGE=K331E;SNPEFF_CODON_CHANGE=Aag/Gag;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_183615541_183617946;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=APOBEC4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000308641 GT:AD:DP:GQ:PL 1/1:0,104:107:99:3290,259,0
1 183617105 rs1174658 A G 1994.08 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.341;DB;DP=62;Dels=0.0;FS=4.284;HRun=0;HaplotypeScore=1.9963;MQ=60.0;MQ0=0;MQRankSum=-0.224;QD=32.16;ReadPosRankSum=-0.671;SNPEFF_AMINO_ACID_CHANGE=F271S;SNPEFF_CODON_CHANGE=tTt/tCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_183615541_183617946;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=APOBEC4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000308641 GT:AD:DP:GQ:PL 1/1:1,61:62:99:2027,132,0
1 183775638 rs11579867 A T 1713.74 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.5;MQ0=0;QD=37.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304685 GT:AD:DP:GQ:PL 1/1:0,46:46:99:1747,132,0
1 183817016 rs3010054 G A 136.83 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.869;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.43;MQ0=0;MQRankSum=-0.259;QD=11.4;ReadPosRankSum=-1.378;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304685 GT:AD:DP:GQ:PL 0/1:6,6:12:99:167,0,204
1 183852914 rs10797919 G C 502.51 PASS AB=0.514;AC=1;AF=0.50;AN=2;BaseQRankSum=2.446;DB;DP=37;Dels=0.0;FS=3.227;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.656;QD=13.58;ReadPosRankSum=-0.562;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304685 GT:AD:DP:GQ:PL 0/1:19,18:37:99:533,0,615
1 183857394 rs10911460 A G 40.96 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=13.65;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304685 GT:AD:DP:GQ:PL 0/1:1,2:3:21.56:71,0,22
1 183867085 rs3814330 C T 150.08 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.45;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.103;QD=15.01;ReadPosRankSum=-0.851;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304685 GT:AD:DP:GQ:PL 0/1:5,5:10:99:180,0,121
1 183871637 rs4604659 G A 321.19 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=4.223;DB;DP=32;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.7356;MQ=59.28;MQ0=0;MQRankSum=-0.409;QD=10.04;ReadPosRankSum=-2.472;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304685 GT:AD:DP:GQ:PL 0/1:20,12:32:99:351,0,551
1 183873898 rs10797920 A G 562.14 PASS AB=0.459;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.088;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9831;MQ=60.0;MQ0=0;MQRankSum=1.112;QD=15.19;ReadPosRankSum=-0.015;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304685 GT:AD:DP:GQ:PL 0/1:17,20:37:99:592,0,572
1 183881089 rs72733471 A T 72.14 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.731;QD=14.43;ReadPosRankSum=0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304685 GT:AD:DP:GQ:PL 0/1:1,4:5:27.97:102,0,28
1 183886016 rs10797921 A G 93.07 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.27;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000543395 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:125,9,0
1 183895178 rs4328036 G A 158.98 PASS AB=0.611;AC=1;AF=0.50;AN=2;BaseQRankSum=2.534;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.0111;MQ=58.71;MQ0=0;MQRankSum=-1.945;QD=8.83;ReadPosRankSum=-1.709;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GLT25D2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000486375 GT:AD:DP:GQ:PL 0/1:11,7:18:99:189,0,188
1 183909530 rs2296711 G A 40.84 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=8.17;ReadPosRankSum=-1.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GLT25D2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361927 GT:AD:DP:GQ:PL 0/1:3,2:5:70.84:71,0,71
1 183920391 rs2986549 C T 256.76 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.53;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GLT25D2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361927 GT:AD:DP:GQ:PL 1/1:0,9:9:21.07:290,21,0
1 183938304 rs4651158 C A 265.56 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=6.9539;MQ=53.04;MQ0=0;QD=33.2;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GLT25D2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361927 GT:AD:DP:GQ:PL 1/1:0,8:8:24.07:299,24,0
1 183938313 rs113639370 G GTT 342.15 PASS AC=2;AF=1.00;AN=2;DB;DP=11;FS=0.0;HRun=11;HaplotypeScore=75.7008;IndelType=I;MQ=57.13;MQ0=0;QD=31.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GLT25D2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361927 GT:AD:DP:GQ:PL 1/1:1,8:11:29.58:384,30,0
1 183942950 rs2296714 C T 577.09 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.06;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GLT25D2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361927 GT:AD:DP:GQ:PL 1/1:0,18:18:45.15:610,45,0
1 183944089 rs2077202 A C 373.11 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.31;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GLT25D2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361927 GT:AD:DP:GQ:PL 1/1:0,10:10:30.10:406,30,0
1 183944444 rs2378795 C T 48.77 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GLT25D2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361927 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:80,6,0
1 184023529 rs1046934 A C 705.22 PASS AB=0.481;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.665;DB;DP=52;Dels=0.0;FS=4.125;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.102;QD=13.56;ReadPosRankSum=-0.085;SNPEFF_AMINO_ACID_CHANGE=Q59H;SNPEFF_CODON_CHANGE=caA/caC;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_184023488_184023569;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TSEN15;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000361641 GT:AD:DP:GQ:PL 0/1:25,27:52:99:735,0,786
1 184476536 rs9633307 T G 37.07 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.54;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf21;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000235307 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:68,6,0
1 184476621 rs9633308 T C 110.21 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=2.219;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.39;MQ0=0;MQRankSum=0.729;QD=12.25;ReadPosRankSum=0.361;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf21;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000235307 GT:AD:DP:GQ:PL 0/1:5,4:9:99:140,0,148
1 184537821 rs10911611 T C 38.13 PASS AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=6.36;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf21;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000235307 GT:AD:DP:GQ:PL 0/1:1,5:6:32.20:68,0,32
1 184567463 rs10465489 G T 254.37 PASS AB=0.438;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.435;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.847;QD=15.9;ReadPosRankSum=-0.635;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf21;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000235307 GT:AD:DP:GQ:PL 0/1:7,9:16:99:284,0,243
1 184588710 rs16823344 A C 839.38 PASS AB=0.485;AC=1;AF=0.50;AN=2;BaseQRankSum=1.828;DB;DP=66;Dels=0.0;FS=3.437;HRun=2;HaplotypeScore=0.0;MQ=59.65;MQ0=0;MQRankSum=-1.007;QD=12.72;ReadPosRankSum=-0.879;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf21;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000235307 GT:AD:DP:GQ:PL 0/1:32,34:66:99:869,0,930
1 184662181 rs1061508 C T 2130.84 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.8941;MQ=59.24;MQ0=0;QD=34.93;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=EDEM3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367512 GT:AD:DP:GQ:PL 1/1:0,61:61:99:2164,169,0
1 184663537 rs9425343 A C 1484.01 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.19;MQ0=0;QD=32.26;SNPEFF_AMINO_ACID_CHANGE=I793S;SNPEFF_CODON_CHANGE=aTt/aGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_184662957_184663606;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=EDEM3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367512 GT:AD:DP:GQ:PL 1/1:0,46:46:99:1517,114,0
1 184663581 rs9425634 T C 1323.60 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.08;MQ0=0;QD=35.77;SNPEFF_AMINO_ACID_CHANGE=Q778;SNPEFF_CODON_CHANGE=caA/caG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_184662957_184663606;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=EDEM3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367512 GT:AD:DP:GQ:PL 1/1:0,37:37:99:1357,102,0
1 184663643 rs34236444 TA T 539.32 PASS AC=2;AF=1.00;AN=2;DB;DP=23;FS=0.0;HRun=7;HaplotypeScore=105.4661;IndelType=D;MQ=61.4;MQ0=0;QD=23.45;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=EDEM3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318130 GT:AD:DP:GQ:PL 1/1:4,19:23:57.12:581,57,0
1 184675814 rs1062994 G A 969.59 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.28;MQ0=0;QD=30.3;SNPEFF_AMINO_ACID_CHANGE=N679;SNPEFF_CODON_CHANGE=aaC/aaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_184675777_184675942;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=EDEM3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367512 GT:AD:DP:GQ:PL 1/1:0,32:32:81.22:1003,81,0
1 184677464 rs3736757 G A 1441.63 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.2611;MQ=59.49;MQ0=0;QD=32.04;SNPEFF_AMINO_ACID_CHANGE=I577;SNPEFF_CODON_CHANGE=atC/atT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_184677287_184677478;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=EDEM3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367512 GT:AD:DP:GQ:PL 1/1:0,45:45:99:1475,108,0
1 184681081 rs7525074 A G 198.53 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.05;MQ0=0;QD=24.82;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=EDEM3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318130 GT:AD:DP:GQ:PL 1/1:0,8:8:18.06:231,18,0
1 184681802 rs4651230 T C 370.63 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.69;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=EDEM3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318130 GT:AD:DP:GQ:PL 1/1:0,11:11:30.08:404,30,0
1 184695571 rs10752941 C T 953.61 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9979;MQ=60.0;MQ0=0;QD=32.88;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=EDEM3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318130 GT:AD:DP:GQ:PL 1/1:0,29:29:81.24:987,81,0
1 184706212 rs10711907 GT G 2204.36 PASS AC=2;AF=1.00;AN=2;DB;DP=58;FS=0.0;HRun=2;HaplotypeScore=161.2699;IndelType=D;MQ=61.11;MQ0=0;QD=38.01;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=EDEM3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318130 GT:AD:DP:GQ:PL 1/1:0,58:58:99:2246,175,0
1 184718750 rs35957626 GAAA G 203 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.741;DB;DP=16;FS=0.0;HRun=17;HaplotypeScore=93.9876;IndelType=D;MQ=56.25;MQ0=0;MQRankSum=1.393;QD=12.69;ReadPosRankSum=0.696;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=EDEM3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318130 GT:AD:DP:GQ:PL 1/1:6,7:16:25.30:245,25,0
1 184760001 rs570441 T C 406.47 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.95;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM129A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367511 GT:AD:DP:GQ:PL 1/1:0,11:11:33.11:439,33,0
1 184763999 rs79046430 A G 104.11 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.876;QD=11.57;ReadPosRankSum=0.361;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM129A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000487074 GT:AD:DP:GQ:PL 0/1:5,4:9:99:134,0,184
1 184764067 rs581100 C G 543.35 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.978;DB;DP=32;Dels=0.0;FS=2.051;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=-0.525;QD=16.98;ReadPosRankSum=-0.136;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM129A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000487074 GT:AD:DP:GQ:PL 0/1:12,20:32:99:573,0,405
1 184764681 rs35545276 G A 1227.25 PASS AB=0.474;AC=1;AF=0.50;AN=2;BaseQRankSum=1.891;DB;DP=78;Dels=0.0;FS=1.955;HRun=0;HaplotypeScore=0.9734;MQ=55.08;MQ0=0;MQRankSum=0.851;QD=15.73;ReadPosRankSum=-0.62;SNPEFF_AMINO_ACID_CHANGE=H739;SNPEFF_CODON_CHANGE=caC/caT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_184760164_184765231;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM129A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367511 GT:AD:DP:GQ:PL 0/1:37,41:78:99:1257,0,1103
1 184764824 rs35704242 C T 598.86 PASS AB=0.488;AC=1;AF=0.50;AN=2;BaseQRankSum=0.796;DB;DP=41;Dels=0.0;FS=9.282;HRun=1;HaplotypeScore=0.9734;MQ=60.0;MQ0=0;MQRankSum=0.848;QD=14.61;ReadPosRankSum=-1.291;SNPEFF_AMINO_ACID_CHANGE=D692N;SNPEFF_CODON_CHANGE=Gat/Aat;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_184760164_184765231;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM129A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367511 GT:AD:DP:GQ:PL 0/1:20,21:41:99:629,0,668
1 184765072 rs28927681 A G 486.14 PASS AB=0.537;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.248;DB;DP=41;Dels=0.0;FS=2.82;HRun=1;HaplotypeScore=4.4779;MQ=58.87;MQ0=0;MQRankSum=0.51;QD=11.86;ReadPosRankSum=-0.614;SNPEFF_AMINO_ACID_CHANGE=L609P;SNPEFF_CODON_CHANGE=cTg/cCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_184760164_184765231;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM129A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367511 GT:AD:DP:GQ:PL 0/1:22,19:41:99:516,0,762
1 184765366 rs77377007 C A 63.89 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.922;DB;DP=8;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=7.99;ReadPosRankSum=0.421;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM129A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367511 GT:AD:DP:GQ:PL 0/1:4,4:8:93.88:94,0,143
1 184777079 rs338564 G A 556.05 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=5.226;DB;DP=39;Dels=0.0;FS=3.493;HRun=0;HaplotypeScore=1.9721;MQ=58.81;MQ0=0;MQRankSum=-0.47;QD=14.26;ReadPosRankSum=0.176;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM129A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367511 GT:AD:DP:GQ:PL 0/1:21,18:39:99:586,0,571
1 184777101 rs338565 G A 563.31 PASS AB=0.558;AC=1;AF=0.50;AN=2;BaseQRankSum=3.946;DB;DP=52;Dels=0.0;FS=11.684;HRun=0;HaplotypeScore=0.8321;MQ=58.2;MQ0=0;MQRankSum=1.968;QD=10.83;ReadPosRankSum=0.675;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM129A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367511 GT:AD:DP:GQ:PL 0/1:29,23:52:99:593,0,817
1 184777177 rs543912 C A 1818.80 PASS AB=0.552;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.109;DB;DP=143;Dels=0.0;FS=1.715;HRun=1;HaplotypeScore=11.1005;MQ=58.86;MQ0=0;MQRankSum=1.081;QD=12.72;ReadPosRankSum=1.127;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM129A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367511 GT:AD:DP:GQ:PL 0/1:79,64:143:99:1849,0,2171
1 184777467 rs338566 A T 36.68 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=12.23;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM129A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367511 GT:AD:DP:GQ:PL 1/1:0,3:3:6.01:68,6,0
1 184800757 rs484847 T C 113.67 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.731;QD=22.73;ReadPosRankSum=0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM129A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367511 GT:AD:DP:GQ:PL 0/1:1,4:5:21.93:144,0,22
1 184801065 rs487675 T C 1571.92 PASS AB=0.535;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.94;DB;DP=127;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.2243;MQ=60.0;MQ0=0;MQRankSum=-0.143;QD=12.38;ReadPosRankSum=-1.554;SNPEFF_AMINO_ACID_CHANGE=Q211;SNPEFF_CODON_CHANGE=caA/caG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_184800981_184801096;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM129A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367511 GT:AD:DP:GQ:PL 0/1:68,59:127:99:1602,0,2231
1 185094277 rs7523448 G T 463.82 PASS AB=0.448;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.881;DB;DP=29;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.066;QD=15.99;ReadPosRankSum=-0.724;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRMT1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367504 GT:AD:DP:GQ:PL 0/1:13,16:29:99:494,0,436
1 185114837 rs6684586 G A 144.42 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.365;DB;DP=10;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.741;QD=14.44;ReadPosRankSum=1.866;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRMT1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367504 GT:AD:DP:GQ:PL 0/1:4,6:10:99:174,0,130
1 185119794 rs1544051 C T 49.99 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9578;MQ=51.77;MQ0=0;QD=16.66;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRMT1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367504 GT:AD:DP:GQ:PL 1/1:0,2:3:6.02:81,6,0
1 185135745 rs950327 A G 637.43 PASS AB=0.582;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.884;DB;DP=67;Dels=0.0;FS=3.566;HRun=0;HaplotypeScore=0.9916;MQ=60.0;MQ0=0;MQRankSum=0.899;QD=9.51;ReadPosRankSum=-0.459;SNPEFF_AMINO_ACID_CHANGE=S42;SNPEFF_CODON_CHANGE=tcA/tcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_185135704_185135784;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SWT1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367500 GT:AD:DP:GQ:PL 0/1:39,28:67:99:667,0,1080
1 185137460 . TA T 375.16 PASS AB=0.833;AC=1;AF=0.50;AN=2;BaseQRankSum=4.161;DP=25;FS=1.906;HRun=1;HaplotypeScore=185.5597;IndelType=D;MQ=47.92;MQ0=0;MQRankSum=-3.617;QD=15.01;ReadPosRankSum=-0.68;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SWT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367500 GT:AD:DP:GQ:PL 0/1:20,5:25:99:414,0,403
1 185137464 . T TAA 674.71 PASS AB=0.69;AC=1;AF=0.50;AN=2;BaseQRankSum=3.227;DP=29;FS=1.882;HRun=1;HaplotypeScore=189.777;IndelType=I;MQ=50.66;MQ0=0;MQRankSum=-3.178;QD=23.27;ReadPosRankSum=-0.995;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SWT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367500 GT:AD:DP:GQ:PL 0/1:16,11:29:99:714,0,503
1 185137628 rs10797999 C T 327.01 PASS AB=0.154;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.086;DB;DP=13;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=48.24;MQ0=0;MQRankSum=-1.48;QD=25.15;ReadPosRankSum=-2.073;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SWT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367500 GT:AD:DP:GQ:PL 0/1:2,11:13:46.53:357,0,47
1 185143721 rs10489579 A G 643.73 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.483;DB;DP=44;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=-1.803;QD=14.63;ReadPosRankSum=0.365;SNPEFF_AMINO_ACID_CHANGE=I148V;SNPEFF_CODON_CHANGE=Att/Gtt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_185143504_185144245;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SWT1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367500 GT:AD:DP:GQ:PL 0/1:20,24:44:99:674,0,642
1 185144347 rs6696591 T G 39.24 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9916;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=13.08;ReadPosRankSum=-0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SWT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000450350 GT:AD:DP:GQ:PL 1/1:1,2:3:6.02:70,6,0
1 185153545 rs76544683 G GT 441.43 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.994;DB;DP=28;FS=3.68;HRun=1;HaplotypeScore=57.1243;IndelType=I;MQ=60.39;MQ0=0;MQRankSum=1.137;QD=15.77;ReadPosRankSum=1.973;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SWT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367500 GT:AD:DP:GQ:PL 0/1:16,12:28:99:480,0,571
1 185171869 rs6698109 A G 1049.47 PASS AB=0.48;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.629;DB;DP=75;Dels=0.0;FS=1.962;HRun=0;HaplotypeScore=0.8941;MQ=59.07;MQ0=0;MQRankSum=-1.154;QD=13.99;ReadPosRankSum=-2.181;SNPEFF_AMINO_ACID_CHANGE=H536R;SNPEFF_CODON_CHANGE=cAc/cGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_185171786_185171931;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SWT1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367500 GT:AD:DP:GQ:PL 0/1:36,39:75:99:1079,0,1207
1 185176015 rs2146328 A G 82.26 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=16.45;ReadPosRankSum=-1.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SWT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367500 GT:AD:DP:GQ:PL 0/1:2,3:5:65.50:112,0,65
1 185201061 rs12096987 T C 41.79 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=13.93;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SWT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367500 GT:AD:DP:GQ:PL 0/1:1,2:3:31.62:72,0,32
1 185240474 rs12041704 A G 714.58 PASS AB=0.519;AC=1;AF=0.50;AN=2;BaseQRankSum=1.374;DB;DP=52;Dels=0.0;FS=2.443;HRun=0;HaplotypeScore=0.0;MQ=59.56;MQ0=0;MQRankSum=0.842;QD=13.74;ReadPosRankSum=-0.092;SNPEFF_AMINO_ACID_CHANGE=N821D;SNPEFF_CODON_CHANGE=Aat/Gat;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_185240455_185240521;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SWT1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367500 GT:AD:DP:GQ:PL 0/1:27,25:52:99:745,0,844
1 185259731 rs2378909 A G 248.33 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.294;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.479;QD=20.69;ReadPosRankSum=-0.185;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SWT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367500 GT:AD:DP:GQ:PL 0/1:3,9:12:91.12:278,0,91
1 185267114 rs10174 A G 1899.56 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.53;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=IVNS1ABP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468217 GT:AD:DP:GQ:PL 1/1:0,52:52:99:1933,141,0
1 185269916 rs10798006 T C 139.03 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.81;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=IVNS1ABP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367498 GT:AD:DP:GQ:PL 1/1:0,5:5:15.03:172,15,0
1 185833565 rs7556537 A C 1130.89 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.28;MQ0=0;QD=35.34;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HMCN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271588 GT:AD:DP:GQ:PL 1/1:0,32:32:84.28:1164,84,0
1 185834847 rs34137386 GTTTC G 681.17 PASS AB=0.709;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.295;DB;DP=39;FS=1.438;HRun=0;HaplotypeScore=294.982;IndelType=D;MQ=52.62;MQ0=0;MQRankSum=1.608;QD=17.47;ReadPosRankSum=3.136;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HMCN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271588 GT:AD:DP:GQ:PL 0/1:22,13:39:99:720,0,1000
1 185834851 rs57584779 C CT 299.20 PASS AB=0.731;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.095;DB;DP=38;FS=0.0;HRun=13;HaplotypeScore=284.4198;IndelType=I;MQ=52.41;MQ0=0;MQRankSum=-1.397;QD=7.87;ReadPosRankSum=-2.568;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HMCN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271588 GT:AD:DP:GQ:PL 0/1:24,13:38:29.06:338,0,29
1 185891409 rs55890842 G A 880.80 PASS AB=0.434;AC=1;AF=0.50;AN=2;BaseQRankSum=2.809;DB;DP=53;Dels=0.0;FS=2.826;HRun=1;HaplotypeScore=0.9159;MQ=58.85;MQ0=0;MQRankSum=-0.045;QD=16.62;ReadPosRankSum=1.319;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HMCN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271588 GT:AD:DP:GQ:PL 0/1:23,30:53:99:911,0,652
1 185987152 rs10911798 G A 50.63 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HMCN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271588 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
1 185988567 rs74625641 CT C 352.14 PASS AC=2;AF=1.00;AN=2;DB;DP=17;FS=0.0;HRun=11;HaplotypeScore=47.3281;IndelType=D;MQ=61.26;MQ0=0;QD=20.71;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HMCN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271588 GT:AD:DP:GQ:PL 1/1:1,16:17:47.94:394,48,0
1 186022032 rs10911808 T G 2439.17 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.3;MQ0=0;QD=36.96;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HMCN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271588 GT:AD:DP:GQ:PL 1/1:0,66:66:99:2472,184,0
1 186026474 rs12129650 T C 2043.69 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=59.61;MQ0=0;QD=34.64;SNPEFF_AMINO_ACID_CHANGE=I2418T;SNPEFF_CODON_CHANGE=aTa/aCa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_186026366_186026533;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HMCN1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000271588 GT:AD:DP:GQ:PL 1/1:0,58:59:99:2077,153,0
1 186030902 rs10737266 G T 252.49 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.62;MQ0=0;QD=36.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HMCN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271588 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:285,21,0
1 186031041 rs7522627 C T 1290.85 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.238;DB;DP=42;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7882;MQ=59.45;MQ0=0;MQRankSum=-1.155;QD=30.73;ReadPosRankSum=-0.825;SNPEFF_AMINO_ACID_CHANGE=C2457;SNPEFF_CODON_CHANGE=tgC/tgT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_186030983_186031096;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HMCN1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000271588 GT:AD:DP:GQ:PL 1/1:1,41:42:67.52:1324,68,0
1 186039006 rs761905 C T 336.25 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.62;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HMCN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271588 GT:AD:DP:GQ:PL 1/1:0,10:10:30.08:369,30,0
1 186040062 rs10911811 G C 33.76 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=11.25;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HMCN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271588 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:65,6,0
1 186044237 rs975398 G A 45.87 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.93;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HMCN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271588 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:77,6,0
1 186050417 rs10798035 A G 4398.02 PASS AC=2;AF=1.00;AN=2;DB;DP=123;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.5784;MQ=59.51;MQ0=0;QD=35.76;SNPEFF_AMINO_ACID_CHANGE=E2893G;SNPEFF_CODON_CHANGE=gAg/gGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_186050339_186050526;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HMCN1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000271588 GT:AD:DP:GQ:PL 1/1:0,123:123:99:4398,328,0
1 186055371 rs6425017 A G 1973.90 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.25;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HMCN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271588 GT:AD:DP:GQ:PL 1/1:1,55:56:99:2007,144,0
1 186057181 rs10911816 T C 977.40 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.2;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HMCN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271588 GT:AD:DP:GQ:PL 1/1:0,27:27:78.25:1010,78,0
1 186064760 rs1022671 A T 354.06 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=6;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.6;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HMCN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271588 GT:AD:DP:GQ:PL 1/1:0,15:15:36.09:387,36,0
1 186064781 rs2180480 A T 155.39 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.9;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HMCN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271588 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:188,15,0
1 186077463 rs1555495 A G 38.42 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.72;QD=6.4;ReadPosRankSum=-1.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HMCN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271588 GT:AD:DP:GQ:PL 0/1:4,2:6:68.41:68,0,106
1 186081918 rs7555520 C T 1006.92 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.28;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.6647;MQ=59.25;MQ0=0;MQRankSum=-0.056;QD=32.48;ReadPosRankSum=-0.95;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HMCN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271588 GT:AD:DP:GQ:PL 1/1:1,30:31:47.96:1040,48,0
1 186082316 rs7555906 C G 52.75 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HMCN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271588 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
1 186086578 rs10157742 G A 1386.33 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9159;MQ=59.44;MQ0=0;QD=33.81;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HMCN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271588 GT:AD:DP:GQ:PL 1/1:0,41:41:99:1419,105,0
1 186089072 rs2891230 G A 2148.43 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.81;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HMCN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271588 GT:AD:DP:GQ:PL 1/1:0,60:60:99:2181,163,0
1 186089112 rs2383434 T C 1692.41 PASS AC=2;AF=1.00;AN=2;DB;DP=71;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=1.9664;MQ=60.0;MQ0=0;QD=23.84;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HMCN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271588 GT:AD:DP:GQ:PL 1/1:0,71:71:99:1725,168,0
1 186089363 rs10752962 C A 424.04 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.34;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HMCN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271588 GT:AD:DP:GQ:PL 1/1:0,12:12:36.09:457,36,0
1 186092076 rs2057388 A C 1727.31 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.99;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HMCN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271588 GT:AD:DP:GQ:PL 1/1:0,48:48:99:1760,126,0
1 186092540 rs6698064 A G 42.66 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.33;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HMCN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271588 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:74,6,0
1 186113852 rs17531405 G C 510.08 PASS AB=0.59;AC=1;AF=0.50;AN=2;BaseQRankSum=0.271;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.52;MQ0=0;MQRankSum=-1.099;QD=13.08;ReadPosRankSum=0.271;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HMCN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271588 GT:AD:DP:GQ:PL 0/1:23,16:39:99:540,0,784
1 186113931 rs3737941 T G 141.05 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=0.322;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.221;QD=17.63;ReadPosRankSum=-0.684;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HMCN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271588 GT:AD:DP:GQ:PL 0/1:3,5:8:99:171,0,101
1 186135236 rs6425021 G A 489.55 PASS AB=0.273;AC=1;AF=0.50;AN=2;BaseQRankSum=2.322;DB;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=1.069;QD=22.25;ReadPosRankSum=0.995;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HMCN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271588 GT:AD:DP:GQ:PL 0/1:6,16:22:99:520,0,185
1 186141301 rs4651302 G A 1685.63 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;QD=31.22;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HMCN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475585 GT:AD:DP:GQ:PL 1/1:0,53:54:99:1719,126,0
1 186151493 rs16825040 C G 187.20 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.201;DB;DP=14;Dels=0.0;FS=5.021;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.068;QD=13.37;ReadPosRankSum=-0.545;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HMCN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271588 GT:AD:DP:GQ:PL 0/1:7,7:14:99:217,0,210
1 186265948 rs1293987 T A 535.21 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.73;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRG4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367482 GT:AD:DP:GQ:PL 1/1:0,18:18:42.12:568,42,0
1 186274133 rs6425024 C T 170.35 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.48;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9159;MQ=57.66;MQ0=0;MQRankSum=-0.898;QD=17.04;ReadPosRankSum=0.48;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRG4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367482 GT:AD:DP:GQ:PL 0/1:2,8:10:56.37:200,0,56
1 186274157 rs6425025 G T 98.34 PASS AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.04;MQ0=0;MQRankSum=0.736;QD=16.39;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRG4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367482 GT:AD:DP:GQ:PL 0/1:1,5:6:26.71:128,0,27
1 186274159 rs2273778 G A 97.43 PASS AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.04;MQ0=0;MQRankSum=0.736;QD=16.24;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRG4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367482 GT:AD:DP:GQ:PL 0/1:1,5:6:26.19:127,0,26
1 186274175 rs2273777 G A 50.63 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRG4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367482 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
1 186275760 rs16825150 G A 2545.41 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.025;DB;DP=172;DS;Dels=0.0;FS=3.024;HRun=2;HaplotypeScore=3.8927;MQ=60.0;MQ0=0;MQRankSum=0.206;QD=14.8;ReadPosRankSum=-0.698;SNPEFF_AMINO_ACID_CHANGE=K169;SNPEFF_CODON_CHANGE=aaG/aaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_186275450_186277814;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRG4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367482 GT:AD:DP:GQ:PL 0/1:86,86:172:99:2575,0,2820
1 186276282 . CACT C 188.10 QDFilter2 AB=0.941;AC=1;AF=0.50;AN=2;BaseQRankSum=3.848;DP=95;FS=17.064;HRun=0;HaplotypeScore=832.2265;IndelType=D;MQ=39.73;MQ0=0;MQRankSum=-2.895;QD=1.98;ReadPosRankSum=-0.945;SNPEFF_AMINO_ACID_CHANGE=T344-;SNPEFF_CODON_CHANGE=act/-;SNPEFF_EFFECT=CODON_DELETION;SNPEFF_EXON_ID=exon_1_186275450_186277814;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRG4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367482 GT:AD:DP:GQ:PL 0/1:89,6:95:99:227,0,3952
1 186276291 rs151267614 A G 116.98 HaplotypeScoreFilter13;QDFilter2 AB=0.642;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.931;DB;DP=96;Dels=0.01;FS=39.521;HRun=1;HaplotypeScore=52.0283;MQ=40.25;MQ0=0;MQRankSum=-4.679;QD=1.21;ReadPosRankSum=-0.455;SNPEFF_AMINO_ACID_CHANGE=K346;SNPEFF_CODON_CHANGE=aaA/aaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_186275450_186277814;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRG4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367482 GT:AD:DP:GQ:PL 0/1:61,34:96:99:147,0,1196
1 186277088 rs68069719 G C 5964.04 PASS AC=2;AF=1.00;AN=2;DB;DP=177;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=5.6178;MQ=55.98;MQ0=0;QD=33.7;SNPEFF_AMINO_ACID_CHANGE=C612S;SNPEFF_CODON_CHANGE=tGt/tCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_186275450_186277814;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRG4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367482 GT:AD:DP:GQ:PL 1/1:0,177:177:99:5964,454,0
1 186286782 rs34585917 A G 131.83 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.234;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.5317;MQ=60.0;MQ0=0;MQRankSum=-0.702;QD=7.32;ReadPosRankSum=0.234;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRG4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367483 GT:AD:DP:GQ:PL 0/1:12,6:18:99:162,0,398
1 186295021 rs76057663 A G 721.27 PASS AB=0.419;AC=1;AF=0.50;AN=2;BaseQRankSum=1.97;DB;DP=43;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.92;MQ0=0;MQRankSum=0.902;QD=16.77;ReadPosRankSum=1.029;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TPR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367478 GT:AD:DP:GQ:PL 0/1:18,25:43:99:751,0,569
1 186305993 rs16825183 T C 311.02 PASS AB=0.577;AC=1;AF=0.50;AN=2;BaseQRankSum=0.363;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-2.335;QD=11.96;ReadPosRankSum=0.156;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TPR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481347 GT:AD:DP:GQ:PL 0/1:15,11:26:99:341,0,538
1 186307064 rs16825185 T G 162.11 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.493;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.2;MQ0=0;MQRankSum=1.656;QD=12.47;ReadPosRankSum=-1.2;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TPR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481347 GT:AD:DP:GQ:PL 0/1:6,7:13:99:192,0,202
1 186313249 rs2950829 A G 719.15 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.25;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TPR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367478 GT:AD:DP:GQ:PL 1/1:0,21:21:54.18:752,54,0
1 186313293 rs76557279 G A 50.04 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.398;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.4105;MQ=60.0;MQ0=0;MQRankSum=-0.278;QD=4.55;ReadPosRankSum=-1.034;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TPR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367478 GT:AD:DP:GQ:PL 0/1:7,4:11:80.04:80,0,258
1 186313830 rs16825201 A G 79.07 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.406;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.04;MQ0=0;MQRankSum=0.988;QD=13.18;ReadPosRankSum=0.406;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TPR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367478 GT:AD:DP:GQ:PL 0/1:3,3:6:61.94:109,0,62
1 186314949 rs2272412 C T 44.97 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=14.99;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TPR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367478 GT:AD:DP:GQ:PL 0/1:1,2:3:32.20:75,0,32
1 186316488 rs3753565 C T 1539.67 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.473;DB;DP=117;Dels=0.0;FS=1.494;HRun=1;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=1.315;QD=13.16;ReadPosRankSum=0.927;SNPEFF_AMINO_ACID_CHANGE=S960N;SNPEFF_CODON_CHANGE=aGc/aAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_186316424_186316590;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TPR;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367478 GT:AD:DP:GQ:PL 0/1:63,54:117:99:1570,0,1863
1 186319580 rs6667940 C A 542.01 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.898;DB;DP=20;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.047;QD=27.1;ReadPosRankSum=0.803;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TPR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469463 GT:AD:DP:GQ:PL 0/1:4,16:20:99:572,0,107
1 186327536 rs2383476 G A 102.89 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.72;QD=17.15;ReadPosRankSum=0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TPR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367472 GT:AD:DP:GQ:PL 0/1:2,4:6:58.32:133,0,58
1 186329257 rs878041 C A 358.14 PASS AB=0.353;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.055;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=3.7317;MQ=58.63;MQ0=0;MQRankSum=0.352;QD=21.07;ReadPosRankSum=-0.251;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TPR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367472 GT:AD:DP:GQ:PL 0/1:6,11:17:99:388,0,198
1 186329869 rs2026187 C G 762.48 PASS AB=0.525;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.478;DB;DP=59;Dels=0.0;FS=5.779;HRun=0;HaplotypeScore=0.0;MQ=59.29;MQ0=0;MQRankSum=0.099;QD=12.92;ReadPosRankSum=-1.632;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TPR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367472 GT:AD:DP:GQ:PL 0/1:31,28:59:99:792,0,912
1 186330643 rs10494586 T C 128.89 PASS AB=0.688;AC=1;AF=0.50;AN=2;BaseQRankSum=1.473;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=0.68;QD=8.06;ReadPosRankSum=1.133;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TPR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367472 GT:AD:DP:GQ:PL 0/1:11,5:16:99:159,0,409
1 186330700 rs36117514 A AG 320.01 PASS AB=0.676;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.17;DB;DP=23;FS=0.0;HRun=0;HaplotypeScore=68.9879;IndelType=I;MQ=58.93;MQ0=0;MQRankSum=1.077;QD=13.91;ReadPosRankSum=0.154;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TPR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367472 GT:AD:DP:GQ:PL 0/1:12,11:23:99:359,0,392
1 186342323 rs7514615 C G 36.68 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.34;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TPR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000451586 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:68,6,0
1 186343759 rs2297226 G A 71.36 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=17.84;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TPR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367472 GT:AD:DP:GQ:PL 0/1:1,3:4:26.54:101,0,27
1 186357523 rs1290390 T C 680.47 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.02;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf27;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287859 GT:AD:DP:GQ:PL 1/1:0,20:20:51.17:713,51,0
1 186862419 rs7519192 A G 216.37 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=2.339;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.45;MQ0=0;MQRankSum=-1.027;QD=14.42;ReadPosRankSum=-2.339;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLA2G4A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367466 GT:AD:DP:GQ:PL 0/1:8,7:15:99:246,0,224
1 186863385 rs71952080 TAA T 185.36 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=2.663;DB;DP=18;FS=0.0;HRun=3;HaplotypeScore=56.1648;IndelType=D;MQ=60.6;MQ0=0;MQRankSum=-0.754;QD=10.3;ReadPosRankSum=0.05;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLA2G4A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367466 GT:AD:DP:GQ:PL 0/1:12,6:18:99:224,0,587
1 186908385 rs2307200 C T 129.07 PASS AB=0.722;AC=1;AF=0.50;AN=2;BaseQRankSum=1.873;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.493;QD=7.17;ReadPosRankSum=0.493;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLA2G4A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466600 GT:AD:DP:GQ:PL 0/1:13,5:18:99:159,0,417
1 186915684 rs61811026 C T 398.50 PASS AB=0.222;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.434;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.39;MQ0=0;MQRankSum=1.009;QD=22.14;ReadPosRankSum=-0.265;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLA2G4A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367466 GT:AD:DP:GQ:PL 0/1:4,14:18:99:428,0,120
1 186919634 rs12720639 C G 136.57 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.749;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.387;QD=12.42;ReadPosRankSum=0.717;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLA2G4A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367466 GT:AD:DP:GQ:PL 0/1:6,5:11:99:167,0,218
1 186919675 rs12691467 A G 258.54 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=2.727;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.652;QD=17.24;ReadPosRankSum=0.209;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLA2G4A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367466 GT:AD:DP:GQ:PL 0/1:7,8:15:99:289,0,235
1 186919732 rs4650709 A T 1065.54 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.34;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLA2G4A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367466 GT:AD:DP:GQ:PL 1/1:0,34:34:90.28:1099,90,0
1 186919993 rs969357 G A 256.87 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.7;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLA2G4A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367466 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:290,21,0
1 186925094 rs5007826 A G 103.24 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=50.3;MQ0=0;QD=17.21;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLA2G4A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367466 GT:AD:DP:GQ:PL 1/1:0,6:6:12.03:136,12,0
1 186925168 rs5007825 A G 149.78 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLA2G4A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367466 GT:AD:DP:GQ:PL 1/1:0,8:8:15.04:183,15,0
1 186925194 rs5007824 T C 613.79 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.03;MQ0=0;QD=34.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLA2G4A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367466 GT:AD:DP:GQ:PL 1/1:0,18:18:51.12:647,51,0
1 186925552 rs2307199 T C 1814.84 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=59.09;MQ0=0;QD=35.59;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLA2G4A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367466 GT:AD:DP:GQ:PL 1/1:0,51:51:99:1848,141,0
1 186925636 rs7547623 T G 245.29 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLA2G4A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367466 GT:AD:DP:GQ:PL 1/1:0,11:11:24.06:278,24,0
1 186934871 rs74426065 G A 255.52 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.5;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLA2G4A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367466 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:288,21,0
1 186946912 rs2307198 G A 1539.15 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.78;SNPEFF_AMINO_ACID_CHANGE=R591K;SNPEFF_CODON_CHANGE=aGg/aAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_186946725_186946920;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLA2G4A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000442353 GT:AD:DP:GQ:PL 1/1:0,50:50:99:1572,123,0
1 190233950 rs113294164 A C 281.14 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.718;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9578;MQ=60.0;MQ0=0;MQRankSum=-0.265;QD=14.06;ReadPosRankSum=-1.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM5C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367462 GT:AD:DP:GQ:PL 0/1:10,10:20:99:311,0,289
1 192128011 . GA G 114.16 PASS AB=0.708;AC=1;AF=0.50;AN=2;BaseQRankSum=2.281;DP=17;FS=0.0;HRun=9;HaplotypeScore=39.9233;IndelType=D;MQ=60.0;MQ0=0;MQRankSum=-0.555;QD=6.72;ReadPosRankSum=0.377;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGS18;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367460 GT:AD:DP:GQ:PL 0/1:10,7:17:99:153,0,169
1 192129370 rs4329489 G A 132.91 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.23;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGS18;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367460 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:165,12,0
1 192316660 rs192525170 C A 56.16 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=0.546;DB;DP=10;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=57.66;MQ0=0;MQRankSum=0.895;QD=5.62;ReadPosRankSum=0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGS21;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000417209 GT:AD:DP:GQ:PL 0/1:7,3:10:86.15:86,0,214
1 192335271 rs113986528 C CTAAT 921.96 PASS AB=0.657;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.0;DB;DP=23;FS=1.804;HRun=0;HaplotypeScore=76.789;IndelType=I;MQ=59.88;MQ0=0;MQRankSum=0.651;QD=40.09;ReadPosRankSum=-0.031;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGS21;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000417209 GT:AD:DP:GQ:PL 0/1:11,12:23:99:961,0,474
1 192460260 . A ATG 446.69 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.29;DP=16;FS=0.0;HRun=0;HaplotypeScore=58.3204;IndelType=I;MQ=60.59;MQ0=0;MQRankSum=1.448;QD=27.92;ReadPosRankSum=1.159;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AL136987.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408218 GT:AD:DP:GQ:PL 1/1:5,11:16:27.08:489,27,0
1 192460544 rs1175055 G C 372.73 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.27;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AL136987.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408218 GT:AD:DP:GQ:PL 1/1:0,10:10:30.10:406,30,0
1 192545110 rs80272816 T C 365.53 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.051;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.154;QD=14.06;ReadPosRankSum=0.513;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367459 GT:AD:DP:GQ:PL 0/1:13,13:26:99:396,0,392
1 192779227 rs2746073 T A 300.61 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.33;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RGS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000235382 GT:AD:DP:GQ:PL 1/1:0,11:11:27.08:334,27,0
1 192780088 rs5779653 GCT G 3927.63 PASS AC=2;AF=1.00;AN=2;DB;DP=97;FS=0.0;HRun=0;HaplotypeScore=329.962;IndelType=D;MQ=59.77;MQ0=2;QD=39.67;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RGS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000483295 GT:AD:DP:GQ:PL 1/1:2,97:97:99:3928,283,0
1 192780337 rs10598428 CAA C 2707.14 PASS AC=2;AF=1.00;AN=2;DB;DP=62;FS=0.0;HRun=3;HaplotypeScore=218.2628;IndelType=D;MQ=60.13;MQ0=0;QD=43.66;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RGS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000483295 GT:AD:DP:GQ:PL 1/1:2,60:62:99:2749,181,0
1 192991921 rs11385250 G GT 213.82 PASS AC=2;AF=1.00;AN=2;DB;DP=6;FS=0.0;HRun=1;HaplotypeScore=61.4137;IndelType=I;MQ=47.12;MQ0=0;QD=35.64;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UCHL5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421683 GT:AD:DP:GQ:PL 1/1:1,5:6:18.01:256,18,0
1 192997336 rs41306225 A C 501.36 PASS AB=0.485;AC=1;AF=0.50;AN=2;BaseQRankSum=2.794;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.8911;MQ=58.59;MQ0=0;MQRankSum=-0.604;QD=15.19;ReadPosRankSum=0.189;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UCHL5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367448 GT:AD:DP:GQ:PL 0/1:16,17:33:99:531,0,511
1 193053675 rs56055376 T C 404.14 PASS AB=0.435;AC=1;AF=0.50;AN=2;BaseQRankSum=0.837;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.713;QD=17.57;ReadPosRankSum=0.093;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TROVE2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367441 GT:AD:DP:GQ:PL 0/1:10,13:23:99:434,0,306
1 193053762 rs12531 C T 427.85 PASS AB=0.485;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.107;DB;DP=33;Dels=0.0;FS=1.377;HRun=3;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=-0.054;QD=12.97;ReadPosRankSum=-1.891;SNPEFF_AMINO_ACID_CHANGE=F231;SNPEFF_CODON_CHANGE=ttC/ttT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_193053709_193053861;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TROVE2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000416058 GT:AD:DP:GQ:PL 0/1:16,17:33:99:458,0,524
1 193053996 . GA G 208.98 PASS AB=0.594;AC=1;AF=0.50;AN=2;BaseQRankSum=0.591;DP=19;FS=5.563;HRun=12;HaplotypeScore=49.114;IndelType=D;MQ=60.57;MQ0=0;MQRankSum=0.394;QD=11.0;ReadPosRankSum=1.084;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TROVE2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367441 GT:AD:DP:GQ:PL 0/1:6,13:19:97.01:248,0,97
1 193067020 rs35057393 T A 46.65 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GLRX2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367439 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:78,6,0
1 193117124 rs138541554 A T 302.08 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.224;DB;DP=26;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.082;QD=11.62;ReadPosRankSum=-1.496;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC73;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367435 GT:AD:DP:GQ:PL 0/1:13,13:26:99:332,0,433
1 193181412 rs41308389 T G 347.12 PASS AB=0.484;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.376;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.2426;MQ=58.64;MQ0=0;MQRankSum=-0.178;QD=11.2;ReadPosRankSum=-1.245;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC73;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367435 GT:AD:DP:GQ:PL 0/1:15,16:31:99:377,0,524
1 193181751 rs115158706 A T 251.31 PASS AB=0.389;AC=1;AF=0.50;AN=2;BaseQRankSum=1.087;DB;DP=18;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.9916;MQ=60.0;MQ0=0;MQRankSum=0.906;QD=13.96;ReadPosRankSum=0.725;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC73;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367435 GT:AD:DP:GQ:PL 0/1:7,11:18:99:281,0,237
1 193205272 rs3738244 T A 589.45 PASS AB=0.438;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.083;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=0.171;QD=18.42;ReadPosRankSum=1.538;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC73;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000445394 GT:AD:DP:GQ:PL 0/1:14,18:32:99:619,0,478
1 193218793 rs41305084 T G 138.12 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.051;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.973;QD=6.58;ReadPosRankSum=0.195;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC73;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367435 GT:AD:DP:GQ:PL 0/1:15,6:21:99:168,0,518
1 196227526 rs977157 A G 1216.15 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.1567;MQ=60.0;MQ0=0;QD=35.77;SNPEFF_AMINO_ACID_CHANGE=D1003;SNPEFF_CODON_CHANGE=gaT/gaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_196227324_196227624;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNT2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000294725 GT:AD:DP:GQ:PL 1/1:0,34:34:93.30:1249,93,0
1 196251522 rs2477357 T C 1412.06 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294725 GT:AD:DP:GQ:PL 1/1:0,40:40:99:1445,105,0
1 196254970 rs2477360 C T 796.86 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=39.84;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294725 GT:AD:DP:GQ:PL 1/1:0,20:20:60.20:830,60,0
1 196398619 rs1538684 T C 65.85 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=0.895;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.731;QD=6.58;ReadPosRankSum=0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294725 GT:AD:DP:GQ:PL 0/1:7,3:10:95.84:96,0,257
1 196398974 rs12121250 T A 34.34 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=8.59;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294725 GT:AD:DP:GQ:PL 0/1:2,2:4:64.33:64,0,72
1 196461513 rs4607811 C T 593.98 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294725 GT:AD:DP:GQ:PL 1/1:0,19:19:45.15:627,45,0
1 196642072 rs551397 C T 302.46 PASS AB=0.412;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.805;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.63;MQ0=0;MQRankSum=1.122;QD=17.79;ReadPosRankSum=-0.927;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CFH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359637 GT:AD:DP:GQ:PL 0/1:7,10:17:99:332,0,204
1 196642233 rs800292 G A 447.46 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.592;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9995;MQ=59.06;MQ0=0;MQRankSum=-1.09;QD=11.19;ReadPosRankSum=1.313;SNPEFF_AMINO_ACID_CHANGE=V62I;SNPEFF_CODON_CHANGE=Gta/Ata;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_196642108_196642293;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CFH;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000359637 GT:AD:DP:GQ:PL 0/1:25,15:40:99:477,0,771
1 196642969 rs35507625 C CTT 695.76 PASS AB=0.72;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.113;DB;DP=52;FS=11.452;HRun=9;HaplotypeScore=157.3124;IndelType=I;MQ=58.0;MQ0=2;MQRankSum=-1.141;QD=12.88;ReadPosRankSum=-0.321;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CFH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000496761 GT:AD:DP:GQ:PL 0/1:33,19:52:99:735,0,692
1 196654324 rs1061147 A C 4306.80 PASS AC=2;AF=1.00;AN=2;DB;DP=134;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.48;MQ0=0;QD=32.14;SNPEFF_AMINO_ACID_CHANGE=A243;SNPEFF_CODON_CHANGE=gcA/gcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_196654194_196654367;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CFH;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000359637 GT:AD:DP:GQ:PL 1/1:0,134:134:99:4307,343,0
1 196658497 rs482934 G T 774.52 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.21;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CFH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359637 GT:AD:DP:GQ:PL 1/1:0,22:22:60.18:808,60,0
1 196658905 rs12029785 G A 83.12 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.71;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CFH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359637 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:115,9,0
1 196659237 rs1061170 C T 1644.86 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.25;SNPEFF_AMINO_ACID_CHANGE=H338Y;SNPEFF_CODON_CHANGE=Cat/Tat;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_196659193_196659369;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CFH;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000359637 GT:AD:DP:GQ:PL 1/1:0,43:43:99:1678,123,0
1 196659753 rs34331968 T C 48.08 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.04;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CFH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000391986 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
1 196682947 rs2274700 G A 1507.16 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.07;SNPEFF_AMINO_ACID_CHANGE=A473;SNPEFF_CODON_CHANGE=gcG/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_196682865_196683047;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CFH;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367429 GT:AD:DP:GQ:PL 1/1:0,47:47:99:1540,117,0
1 196684625 rs203674 G T 721.14 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=60.0;MQ0=0;QD=36.06;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CFH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367429 GT:AD:DP:GQ:PL 1/1:0,20:20:57.16:754,57,0
1 196705926 rs375046 C A 87.19 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.06;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CFH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367429 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:119,9,0
1 196712577 rs513699 T C 108.93 QDFilter2 AB=0.78;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.38;DB;DP=59;Dels=0.0;FS=1.771;HRun=0;HaplotypeScore=2.0756;MQ=53.52;MQ0=1;MQRankSum=-5.295;QD=1.85;ReadPosRankSum=1.497;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CFH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470918 GT:AD:DP:GQ:PL 0/1:46,13:59:99:139,0,1574
1 196712586 rs61822181 C T 160.40 PASS AB=0.757;AC=1;AF=0.50;AN=2;BaseQRankSum=0.667;DB;DP=74;Dels=0.0;FS=3.079;HRun=1;HaplotypeScore=1.4105;MQ=54.35;MQ0=1;MQRankSum=-5.168;QD=2.17;ReadPosRankSum=1.369;SNPEFF_AMINO_ACID_CHANGE=T1046;SNPEFF_CODON_CHANGE=acC/acT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_196712582_196712758;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CFH;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367429 GT:AD:DP:GQ:PL 0/1:56,18:74:99:190,0,1862
1 196757258 rs400642 C T 361.66 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=54.07;MQ0=0;QD=36.17;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CFHR3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367425 GT:AD:DP:GQ:PL 1/1:0,10:10:30.10:395,30,0
1 196757392 rs400344 C T 1058.83 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=43.13;MQ0=7;QD=25.21;SNPEFF_AMINO_ACID_CHANGE=S159;SNPEFF_CODON_CHANGE=tcC/tcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_196757346_196757528;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CFHR3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367425 GT:AD:DP:GQ:PL 1/1:0,42:42:87.24:1092,87,0
1 196794519 rs442759 C T 172.72 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.54;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CFHR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472961 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:205,15,0
1 196794909 rs409549 G C 248.09 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.05;MQ0=0;QD=31.01;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CFHR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472961 GT:AD:DP:GQ:PL 1/1:0,8:8:21.07:281,21,0
1 196795849 rs424722 A G 50.05 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=16.68;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CFHR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468079 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:81,6,0
1 196796184 rs399507 G A 483.33 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.72;MQ0=0;QD=30.21;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CFHR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468079 GT:AD:DP:GQ:PL 1/1:0,16:16:39.12:516,39,0
1 196796240 rs438781 T A 171.66 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.33;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CFHR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468079 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:204,15,0
1 196797123 rs677961 C T 283.55 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=36.31;MQ0=2;QD=28.36;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CFHR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468079 GT:AD:DP:GQ:PL 1/1:0,10:10:24.08:317,24,0
1 196797238 rs425757 C T 156.43 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=29.88;MQ0=1;QD=22.35;SNPEFF_AMINO_ACID_CHANGE=H157Y;SNPEFF_CODON_CHANGE=Cat/Tat;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_196797200_196797376;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CFHR1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000320493 GT:AD:DP:GQ:PL 1/1:0,7:7:15.05:189,15,0
1 196797244 rs113811987 C G 157.95 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=29.88;MQ0=1;QD=22.56;SNPEFF_AMINO_ACID_CHANGE=L159V;SNPEFF_CODON_CHANGE=Ctg/Gtg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_196797200_196797376;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CFHR1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000320493 GT:AD:DP:GQ:PL 1/1:0,7:7:15.05:191,15,0
1 196797357 rs3201739 A G 101.24 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=23.68;MQ0=2;QD=16.87;SNPEFF_AMINO_ACID_CHANGE=T196;SNPEFF_CODON_CHANGE=acA/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_196797200_196797376;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CFHR1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000320493 GT:AD:DP:GQ:PL 1/1:0,6:6:12.03:134,12,0
1 196797493 rs28369298 T C 48.08 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=30.21;MQ0=1;QD=16.03;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CFHR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468079 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:79,6,0
1 196801042 rs4230 G T 891.31 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=47.81;MQ0=2;QD=34.28;SNPEFF_AMINO_ACID_CHANGE=R243;SNPEFF_CODON_CHANGE=cgG/cgT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_196800927_196801319;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CFHR1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367424 GT:AD:DP:GQ:PL 1/1:2,24:26:72.22:924,72,0
1 196801078 rs414628 A T 726.43 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=48.25;MQ0=2;QD=27.94;SNPEFF_AMINO_ACID_CHANGE=R255;SNPEFF_CODON_CHANGE=cgA/cgT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_196800927_196801319;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CFHR1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367424 GT:AD:DP:GQ:PL 1/1:2,24:26:60.16:759,60,0
1 196801190 rs390679 C A 172.88 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.58;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CFHR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000480960 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:206,15,0
1 196874356 rs10801578 G T 5055.11 PASS AC=2;AF=1.00;AN=2;DB;DP=158;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9066;MQ=59.7;MQ0=0;QD=31.99;SNPEFF_AMINO_ACID_CHANGE=E124D;SNPEFF_CODON_CHANGE=gaG/gaT;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_196874238_196874420;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CFHR4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367416 GT:AD:DP:GQ:PL 1/1:0,157:158:99:5055,379,0
1 196876458 rs7417769 A G 1667.87 PASS AB=0.431;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.605;DB;DP=116;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9958;MQ=60.0;MQ0=0;MQRankSum=0.669;QD=14.38;ReadPosRankSum=-2.129;SNPEFF_AMINO_ACID_CHANGE=N209S;SNPEFF_CODON_CHANGE=aAc/aGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_196876446_196876628;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CFHR4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367416 GT:AD:DP:GQ:PL 0/1:50,66:116:99:1698,0,1497
1 196883940 rs35868341 TA T 34.18 PASS AB=0.647;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.148;DB;DP=11;FS=0.0;HRun=14;HaplotypeScore=79.4356;IndelType=D;MQ=42.34;MQ0=0;MQRankSum=-1.268;QD=3.11;ReadPosRankSum=1.453;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CFHR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367421 GT:AD:DP:GQ:PL 0/1:3,6:11:73.21:73,0,82
1 196887181 rs1971579 T G 86.41 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.8;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CFHR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367421 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:118,9,0
1 196887274 rs3795341 G A 205.90 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.91;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.068;QD=14.71;ReadPosRankSum=0.299;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CFHR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367421 GT:AD:DP:GQ:PL 0/1:7,7:14:99:236,0,248
1 196920148 rs4085749 C T 550.93 PASS AB=0.565;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.961;DB;DP=46;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9385;MQ=59.5;MQ0=0;MQRankSum=0.233;QD=11.98;ReadPosRankSum=-0.211;SNPEFF_AMINO_ACID_CHANGE=C140;SNPEFF_CODON_CHANGE=tgC/tgT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_196919982_196920158;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CFHR2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367415 GT:AD:DP:GQ:PL 0/1:26,20:46:99:581,0,896
1 196920178 rs3828032 C T 582.65 PASS AB=0.424;AC=1;AF=0.50;AN=2;BaseQRankSum=1.038;DB;DP=34;Dels=0.0;FS=6.12;HRun=1;HaplotypeScore=0.9967;MQ=59.32;MQ0=0;MQRankSum=0.055;QD=17.14;ReadPosRankSum=0.71;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CFHR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485647 GT:AD:DP:GQ:PL 0/1:14,19:34:99:613,0,432
1 196926956 rs3748556 C T 632.54 PASS AB=0.522;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.387;DB;DP=46;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=1.089;QD=13.75;ReadPosRankSum=-1.11;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CFHR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367415 GT:AD:DP:GQ:PL 0/1:24,22:46:99:663,0,870
1 196926973 rs3748555 C A 573.72 PASS AB=0.549;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.222;DB;DP=51;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.7887;MQ=59.55;MQ0=0;MQRankSum=-0.479;QD=11.25;ReadPosRankSum=-1.476;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CFHR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367415 GT:AD:DP:GQ:PL 0/1:28,23:51:99:604,0,921
1 196946869 rs3748557 T A 2438.43 PASS AB=0.506;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.252;DB;DP=176;Dels=0.0;FS=4.679;HRun=1;HaplotypeScore=5.1895;MQ=60.0;MQ0=0;MQRankSum=0.833;QD=13.78;ReadPosRankSum=-0.014;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CFHR5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256785 GT:AD:DP:GQ:PL 0/1:89,87:176:99:2468,0,2730
1 196947030 rs12755054 T C 139.35 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.123;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.648;QD=9.29;ReadPosRankSum=-0.177;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CFHR5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256785 GT:AD:DP:GQ:PL 0/1:9,6:15:99:169,0,328
1 196952268 rs45489701 C T 638.44 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=4.972;DB;DP=39;Dels=0.0;FS=3.05;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.944;QD=16.37;ReadPosRankSum=-0.634;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CFHR5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256785 GT:AD:DP:GQ:PL 0/1:18,21:39:99:668,0,489
1 196967458 rs1332664 G T 311.35 PASS AB=0.517;AC=1;AF=0.50;AN=2;BaseQRankSum=1.506;DB;DP=29;Dels=0.0;FS=1.664;HRun=4;HaplotypeScore=0.0;MQ=59.36;MQ0=0;MQRankSum=0.982;QD=10.74;ReadPosRankSum=0.807;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CFHR5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256785 GT:AD:DP:GQ:PL 0/1:15,14:29:99:341,0,546
1 197008365 rs698859 C T 511.65 PASS AB=0.485;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.225;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.622;QD=15.5;ReadPosRankSum=-0.773;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=F13B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000490002 GT:AD:DP:GQ:PL 0/1:16,17:33:99:542,0,543
1 197008597 rs5990 A C 1951.10 PASS AB=0.511;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.363;DB;DP=135;Dels=0.0;FS=4.007;HRun=0;HaplotypeScore=1.7608;MQ=59.66;MQ0=0;MQRankSum=0.156;QD=14.45;ReadPosRankSum=-0.134;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=F13B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000490002 GT:AD:DP:GQ:PL 0/1:69,66:135:99:1981,0,2309
1 197009508 rs12134960 G C 93.25 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.08;SNPEFF_EFFECT=SPLICE_SITE_ACCEPTOR;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=F13B;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000490002 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:125,9,0
1 197009798 rs5998 A G 795.83 PASS AB=0.48;AC=1;AF=0.50;AN=2;BaseQRankSum=0.903;DB;DP=50;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=58.6;MQ0=0;MQRankSum=1.99;QD=15.92;ReadPosRankSum=-0.806;SNPEFF_AMINO_ACID_CHANGE=N602;SNPEFF_CODON_CHANGE=aaT/aaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_197009652_197009865;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=F13B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367412 GT:AD:DP:GQ:PL 0/1:24,26:50:99:826,0,738
1 197022093 rs17514317 TCTCA T 385.88 PASS AC=2;AF=1.00;AN=2;DB;DP=8;FS=0.0;HRun=0;HaplotypeScore=45.4214;IndelType=D;MQ=56.88;MQ0=0;QD=48.24;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=F13B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367412 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:428,24,0
1 197026672 rs1759009 A G 258.04 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.86;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=F13B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367412 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:291,21,0
1 197029345 rs1332661 G A 67.22 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.92;DB;DP=8;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.322;QD=8.4;ReadPosRankSum=-0.956;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=F13B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367412 GT:AD:DP:GQ:PL 0/1:5,3:8:97.22:97,0,186
1 197030201 rs5997 T C 786 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.43;MQ0=0;QD=31.44;SNPEFF_AMINO_ACID_CHANGE=T152;SNPEFF_CODON_CHANGE=acA/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_197030029_197030205;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=F13B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367412 GT:AD:DP:GQ:PL 1/1:0,25:25:69.20:819,69,0
1 197030829 rs5993 A T 205.30 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.896;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.678;QD=18.66;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=F13B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367412 GT:AD:DP:GQ:PL 0/1:4,7:11:99:235,0,132
1 197031021 rs6003 C T 1477.26 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.88;SNPEFF_AMINO_ACID_CHANGE=R115H;SNPEFF_CODON_CHANGE=cGt/cAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_197030914_197031099;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=F13B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367412 GT:AD:DP:GQ:PL 1/1:0,39:39:99:1510,111,0
1 197032345 rs5996 C G 173.29 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.468;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.825;QD=14.44;ReadPosRankSum=-2.18;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=F13B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367412 GT:AD:DP:GQ:PL 0/1:4,8:12:99:203,0,140
1 197053373 rs12677 G A 614.08 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.63;MQ0=0;QD=36.12;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASPM;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367406 GT:AD:DP:GQ:PL 1/1:0,17:17:48.16:647,48,0
1 197053561 . T TA 92.74 PASS AB=0.822;AC=1;AF=0.50;AN=2;BaseQRankSum=0.253;DP=37;FS=8.822;HRun=15;HaplotypeScore=146.9237;IndelType=I;MQ=59.67;MQ0=0;MQRankSum=0.543;QD=2.51;ReadPosRankSum=-0.326;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASPM;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367406 GT:AD:DP:GQ:PL 0/1:26,8:37:99:132,0,137
1 197055782 rs10733087 T C 505.41 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.69;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASPM;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367406 GT:AD:DP:GQ:PL 1/1:0,15:15:42.13:538,42,0
1 197055925 rs10754213 T C 3924.75 PASS AC=2;AF=1.00;AN=2;DB;DP=111;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.36;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASPM;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367406 GT:AD:DP:GQ:PL 1/1:0,111:111:99:3925,283,0
1 197059878 rs4915315 G A 584.27 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.78;MQ0=0;QD=30.75;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASPM;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294732 GT:AD:DP:GQ:PL 1/1:0,19:19:48.13:617,48,0
1 197059892 rs10754214 A G 700.71 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.97;MQ0=0;QD=30.47;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASPM;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294732 GT:AD:DP:GQ:PL 1/1:0,23:23:57.17:734,57,0
1 197059928 rs4915316 A G 1120.07 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.23;MQ0=0;QD=37.34;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASPM;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294732 GT:AD:DP:GQ:PL 1/1:0,30:30:87.26:1153,87,0
1 197063352 rs41304071 C T 93.92 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=0.38;DB;DP=12;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9578;MQ=60.0;MQ0=0;MQRankSum=0.831;QD=7.83;ReadPosRankSum=-0.831;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASPM;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294732 GT:AD:DP:GQ:PL 0/1:7,5:12:99:124,0,236
1 197070442 rs3762271 G T 536.23 PASS AB=0.459;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.99;DB;DP=37;Dels=0.0;FS=1.271;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.295;QD=14.49;ReadPosRankSum=0.442;SNPEFF_AMINO_ACID_CHANGE=L2647I;SNPEFF_CODON_CHANGE=Ctt/Att;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_197069561_197074315;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASPM;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367409 GT:AD:DP:GQ:PL 0/1:17,20:37:99:566,0,564
1 197070521 rs12138336 C G 529.66 PASS AB=0.394;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.343;DB;DP=33;Dels=0.0;FS=1.397;HRun=0;HaplotypeScore=1.6647;MQ=60.0;MQ0=0;MQRankSum=0.844;QD=16.05;ReadPosRankSum=-0.537;SNPEFF_AMINO_ACID_CHANGE=Q2620H;SNPEFF_CODON_CHANGE=caG/caC;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_197069561_197074315;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASPM;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367409 GT:AD:DP:GQ:PL 0/1:13,20:33:99:560,0,414
1 197070697 rs41310927 T C 665.73 PASS AB=0.582;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.176;DB;DP=67;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.66;MQ0=0;MQRankSum=0.477;QD=9.94;ReadPosRankSum=-0.718;SNPEFF_AMINO_ACID_CHANGE=S2562G;SNPEFF_CODON_CHANGE=Agc/Ggc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_197069561_197074315;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASPM;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367409 GT:AD:DP:GQ:PL 0/1:39,28:67:99:696,0,1380
1 197070707 rs41308365 G A 763.54 PASS AB=0.594;AC=1;AF=0.50;AN=2;BaseQRankSum=2.59;DB;DP=64;Dels=0.0;FS=1.021;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.342;QD=11.93;ReadPosRankSum=-0.342;SNPEFF_AMINO_ACID_CHANGE=I2558;SNPEFF_CODON_CHANGE=atC/atT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_197069561_197074315;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASPM;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367409 GT:AD:DP:GQ:PL 0/1:38,26:64:99:794,0,1143
1 197070776 rs10922162 C T 1263.28 PASS AB=0.481;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.978;DB;DP=81;Dels=0.0;FS=2.996;HRun=0;HaplotypeScore=0.5784;MQ=59.72;MQ0=0;MQRankSum=-0.111;QD=15.6;ReadPosRankSum=-0.429;SNPEFF_AMINO_ACID_CHANGE=V2535;SNPEFF_CODON_CHANGE=gtG/gtA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_197069561_197074315;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASPM;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367409 GT:AD:DP:GQ:PL 0/1:39,42:81:99:1293,0,1131
1 197070815 rs1412640 T C 3063.61 PASS AC=2;AF=1.00;AN=2;DB;DP=87;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.74;MQ0=0;QD=35.21;SNPEFF_AMINO_ACID_CHANGE=L2522;SNPEFF_CODON_CHANGE=ttA/ttG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_197069561_197074315;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASPM;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367409 GT:AD:DP:GQ:PL 1/1:0,87:87:99:3097,229,0
1 197070901 rs964201 A G 2627.82 PASS AC=2;AF=1.00;AN=2;DB;DP=77;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.7;MQ0=0;QD=34.13;SNPEFF_AMINO_ACID_CHANGE=Y2494H;SNPEFF_CODON_CHANGE=Tac/Cac;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_197069561_197074315;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASPM;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367409 GT:AD:DP:GQ:PL 1/1:0,77:77:99:2661,193,0
1 197072420 rs41310925 T C 1487.61 PASS AB=0.565;AC=1;AF=0.50;AN=2;BaseQRankSum=1.221;DB;DP=116;Dels=0.0;FS=2.433;HRun=0;HaplotypeScore=0.0;MQ=59.8;MQ0=0;MQRankSum=1.001;QD=12.82;ReadPosRankSum=-0.212;SNPEFF_AMINO_ACID_CHANGE=Q1987;SNPEFF_CODON_CHANGE=caA/caG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_197069561_197074315;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASPM;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367409 GT:AD:DP:GQ:PL 0/1:65,50:116:99:1518,0,2132
1 197073932 rs2878749 T C 744.08 PASS AB=0.491;AC=1;AF=0.50;AN=2;BaseQRankSum=0.148;DB;DP=57;Dels=0.0;FS=9.23;HRun=0;HaplotypeScore=1.581;MQ=60.0;MQ0=0;MQRankSum=0.738;QD=13.05;ReadPosRankSum=-0.803;SNPEFF_AMINO_ACID_CHANGE=K1483;SNPEFF_CODON_CHANGE=aaA/aaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_197069561_197074315;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASPM;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367409 GT:AD:DP:GQ:PL 0/1:28,29:57:99:774,0,954
1 197086669 rs10754215 C T 49.99 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASPM;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294732 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
1 197091537 rs4915337 A T 1072.62 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=59.3;MQ0=0;QD=32.5;SNPEFF_AMINO_ACID_CHANGE=S1193;SNPEFF_CODON_CHANGE=tcT/tcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_197091518_197091725;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASPM;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000294732 GT:AD:DP:GQ:PL 1/1:0,33:33:81.27:1106,81,0
1 197093098 rs6685259 A T 130.09 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.52;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASPM;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294732 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:163,12,0
1 197093832 rs4915338 T C 79.29 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.63;MQ0=0;QD=9.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASPM;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294732 GT:AD:DP:GQ:PL 1/1:0,8:8:9.03:111,9,0
1 197097473 rs68161328 G GA 106.60 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.546;DB;DP=10;FS=0.0;HRun=15;HaplotypeScore=72.4802;IndelType=I;MQ=56.38;MQ0=0;MQRankSum=-1.214;QD=10.66;ReadPosRankSum=-0.546;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASPM;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294732 GT:AD:DP:GQ:PL 0/1:5,5:10:19.57:146,0,20
1 197098143 rs6695300 G C 51 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.5;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASPM;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294732 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
1 197101303 rs3737110 C A 71.93 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.55;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.55;QD=10.28;ReadPosRankSum=-0.937;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASPM;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294732 GT:AD:DP:GQ:PL 0/1:4,3:7:99:102,0,148
1 197101621 rs3737111 T C 80.71 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=13.45;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASPM;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294732 GT:AD:DP:GQ:PL 0/1:2,4:6:65.60:111,0,66
1 197102745 rs4915344 A G 411.38 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.757;DB;DP=34;Dels=0.0;FS=3.581;HRun=1;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=-0.207;QD=12.1;ReadPosRankSum=-0.069;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASPM;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294732 GT:AD:DP:GQ:PL 0/1:17,17:34:99:441,0,588
1 197102839 rs4915345 A C 393.05 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.23;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASPM;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294732 GT:AD:DP:GQ:PL 1/1:0,13:13:33.11:426,33,0
1 197104149 rs35659894 TA T 144.29 PASS AC=2;AF=1.00;AN=2;DB;DP=5;FS=0.0;HRun=3;HaplotypeScore=12.069;IndelType=D;MQ=60.0;MQ0=0;QD=28.86;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASPM;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294732 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:186,15,0
1 197108693 rs10737687 C T 50.63 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASPM;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294732 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
1 197109042 rs1332663 C T 1461.07 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=59.38;MQ0=0;QD=39.49;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASPM;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294732 GT:AD:DP:GQ:PL 1/1:0,37:37:99:1494,111,0
1 197112533 rs6677082 G A 3274.91 PASS AC=2;AF=1.00;AN=2;DB;DP=93;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.55;MQ0=0;QD=35.21;SNPEFF_AMINO_ACID_CHANGE=S283;SNPEFF_CODON_CHANGE=tcC/tcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_197111461_197112940;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASPM;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000294732 GT:AD:DP:GQ:PL 1/1:0,93:93:99:3275,238,0
1 197113073 rs1571964 G A 1185.20 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASPM;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294732 GT:AD:DP:GQ:PL 1/1:0,41:41:99:1218,99,0
1 197128726 rs12128631 G A 1034.94 PASS AB=0.314;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.203;DB;DP=51;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=3.8592;MQ=59.55;MQ0=0;MQRankSum=0.274;QD=20.29;ReadPosRankSum=0.903;SNPEFF_AMINO_ACID_CHANGE=L831;SNPEFF_CODON_CHANGE=ctC/ctT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_197128455_197129144;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ZBTB41;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367405 GT:AD:DP:GQ:PL 0/1:16,35:51:99:1065,0,524
1 197141243 rs6428389 A C 205.77 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ZBTB41;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367405 GT:AD:DP:GQ:PL 1/1:0,6:6:18.05:239,18,0
1 197141253 rs10429910 A C 37.19 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=0.55;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.937;QD=5.31;ReadPosRankSum=0.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ZBTB41;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367405 GT:AD:DP:GQ:PL 0/1:4,3:7:67.18:67,0,144
1 197144383 rs10801593 T G 77.20 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.73;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ZBTB41;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367405 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:109,9,0
1 197147471 rs61819118 A C 210.11 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.027;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.45;MQ0=0;MQRankSum=2.067;QD=14.01;ReadPosRankSum=-1.406;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ZBTB41;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367405 GT:AD:DP:GQ:PL 0/1:7,8:15:99:240,0,237
1 197297408 rs550098 A G 79.62 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.54;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367399 GT:AD:DP:GQ:PL 1/1:0,3:3:9.02:112,9,0
1 197297540 rs12042179 A T 283.62 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.51;DB;DP=30;Dels=0.03;FS=4.091;HRun=5;HaplotypeScore=2.7953;MQ=60.0;MQ0=0;MQRankSum=0.676;QD=9.15;ReadPosRankSum=2.073;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367399 GT:AD:DP:GQ:PL 0/1:15,15:30:99:314,0,542
1 197313189 rs949571 C T 92.36 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.79;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367399 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:124,9,0
1 197316239 rs1337168 C G 48.38 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.19;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367399 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:80,6,0
1 197316435 rs1337167 T C 2306.39 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.933;DB;DP=67;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8667;MQ=59.66;MQ0=0;MQRankSum=-0.986;QD=34.42;ReadPosRankSum=-0.666;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367399 GT:AD:DP:GQ:PL 1/1:1,66:67:99:2339,135,0
1 197325908 rs2786098 T G 481.15 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367399 GT:AD:DP:GQ:PL 1/1:0,17:17:45.10:514,45,0
1 197390368 rs3902057 A G 1792.71 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.09;MQ0=0;QD=35.15;SNPEFF_AMINO_ACID_CHANGE=L119;SNPEFF_CODON_CHANGE=ctA/ctG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_197390130_197391086;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRB1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367401 GT:AD:DP:GQ:PL 1/1:0,51:51:99:1826,135,0
1 197407942 rs980371 A G 422.11 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367399 GT:AD:DP:GQ:PL 1/1:0,11:11:33.11:455,33,0
1 197446702 rs1135810 G T 944.51 PASS AB=0.573;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.091;DB;DP=82;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=3.6803;MQ=60.0;MQ0=0;MQRankSum=0.148;QD=11.52;ReadPosRankSum=0.56;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367399 GT:AD:DP:GQ:PL 0/1:47,35:82:99:975,0,1475
1 197480927 rs12142127 C T 317.80 PASS AB=0.653;AC=1;AF=0.50;AN=2;BaseQRankSum=1.145;DB;DP=49;Dels=0.0;FS=1.179;HRun=1;HaplotypeScore=0.9469;MQ=59.53;MQ0=0;MQRankSum=-0.074;QD=6.49;ReadPosRankSum=-0.725;SNPEFF_AMINO_ACID_CHANGE=Q222;SNPEFF_CODON_CHANGE=caG/caA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_197480858_197481074;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DENND1B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000391979 GT:AD:DP:GQ:PL 0/1:32,17:49:99:348,0,1115
1 197482167 rs2013617 C G 358.46 PASS AB=0.077;AC=1;AF=0.50;AN=2;BaseQRankSum=0.935;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.134;QD=27.57;ReadPosRankSum=0.401;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DENND1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000391979 GT:AD:DP:GQ:PL 0/1:1,12:13:8.12:388,0,8
1 197510025 rs3902061 G T 1189.50 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.32;MQ0=0;QD=34.99;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DENND1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463124 GT:AD:DP:GQ:PL 1/1:0,34:34:93.30:1223,93,0
1 197510299 rs3850628 G A 240.69 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.38;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DENND1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463124 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:274,21,0
1 197515715 rs4303099 G A 92.60 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DENND1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000391979 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:125,9,0
1 197515777 rs4316386 A T 402.55 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.87;MQ0=0;QD=36.6;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DENND1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000391979 GT:AD:DP:GQ:PL 1/1:0,11:11:33.09:436,33,0
1 197515981 rs10922249 T C 274 PASS AB=0.654;AC=1;AF=0.50;AN=2;BaseQRankSum=2.318;DB;DP=26;Dels=0.0;FS=2.764;HRun=0;HaplotypeScore=0.0;MQ=59.11;MQ0=0;MQRankSum=0.755;QD=10.54;ReadPosRankSum=0.916;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DENND1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000391979 GT:AD:DP:GQ:PL 0/1:17,9:26:99:304,0,536
1 197576307 rs11411505 A AT 1232.76 PASS AC=2;AF=1.00;AN=2;DB;DP=31;FS=0.0;HRun=1;HaplotypeScore=102.7312;IndelType=I;MQ=61.0;MQ0=0;QD=39.77;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DENND1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000235453 GT:AD:DP:GQ:PL 1/1:2,29:31:87.29:1275,87,0
1 197576350 rs75687955 T C 368.18 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.637;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=58.71;MQ0=0;MQRankSum=1.273;QD=20.45;ReadPosRankSum=0.182;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DENND1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000235453 GT:AD:DP:GQ:PL 0/1:6,12:18:99:398,0,117
1 197704717 rs17641524 C T 540.09 PASS AB=0.433;AC=1;AF=0.50;AN=2;BaseQRankSum=2.846;DB;DP=30;Dels=0.0;FS=1.515;HRun=1;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=-0.921;QD=18.0;ReadPosRankSum=1.381;SNPEFF_AMINO_ACID_CHANGE=S17;SNPEFF_CODON_CHANGE=tcG/tcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_197704716_197704926;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DENND1B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000235453 GT:AD:DP:GQ:PL 0/1:13,17:30:99:570,0,342
1 197741951 rs2477067 C A 904.54 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.733;DB;DP=36;Dels=0.0;FS=0.0;HRun=8;HaplotypeScore=0.0;MQ=59.48;MQ0=0;MQRankSum=-1.348;QD=25.13;ReadPosRankSum=-1.733;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DENND1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000235453 GT:AD:DP:GQ:PL 1/1:1,35:36:84.22:938,84,0
1 197742171 rs2488396 C T 533.04 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.54;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DENND1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000235453 GT:AD:DP:GQ:PL 1/1:0,15:15:42.12:566,42,0
1 197876533 rs1546244 C A 455.04 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.92;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf53;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367393 GT:AD:DP:GQ:PL 1/1:0,12:12:36.12:488,36,0
1 197881578 . G C 378.99 PASS AB=0.469;AC=1;AF=0.50;AN=2;BaseQRankSum=3.862;DP=32;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.28;MQ0=0;MQRankSum=-0.022;QD=11.84;ReadPosRankSum=0.676;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=LHX9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000337020 GT:AD:DP:GQ:PL 0/1:15,17:32:99:409,0,394
1 197890422 rs12122995 C G 1217.24 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.4105;MQ=60.0;MQ0=0;QD=33.81;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=LHX9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475727 GT:AD:DP:GQ:PL 1/1:0,35:35:93.29:1250,93,0
1 197896728 rs12046958 T C 3015.98 PASS AB=0.576;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.292;DB;DP=250;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.8663;MQ=59.91;MQ0=0;MQRankSum=1.583;QD=12.06;ReadPosRankSum=1.076;SNPEFF_AMINO_ACID_CHANGE=N238;SNPEFF_CODON_CHANGE=aaT/aaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_197896721_197896923;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=LHX9;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367390 GT:AD:DP:GQ:PL 0/1:144,106:250:99:3046,0,4324
1 197898023 rs33915360 C CAA 230.84 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.203;DB;DP=14;FS=0.0;HRun=12;HaplotypeScore=86.7208;IndelType=I;MQ=56.95;MQ0=0;MQRankSum=0.668;QD=16.49;ReadPosRankSum=0.935;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=LHX9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000337020 GT:AD:DP:GQ:PL 1/1:2,7:14:8.04:272,8,0
1 198661415 . G A 320.05 PASS AB=0.483;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.117;DP=29;Dels=0.0;FS=6.107;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.375;QD=11.04;ReadPosRankSum=-2.684;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPRC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271610 GT:AD:DP:GQ:PL 0/1:14,15:29:99:350,0,402
1 198675683 rs16843746 T C 36.53 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=12.18;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPRC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000391970 GT:AD:DP:GQ:PL 0/1:1,2:3:33.20:67,0,33
1 198679093 rs10753834 G T 609.96 PASS AB=0.459;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.971;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.74;MQ0=0;MQRankSum=0.35;QD=16.49;ReadPosRankSum=-1.448;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPRC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367379 GT:AD:DP:GQ:PL 0/1:17,20:37:99:640,0,590
1 198703306 rs6683595 C T 733.29 PASS AB=0.51;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.31;DB;DP=49;Dels=0.0;FS=1.771;HRun=1;HaplotypeScore=1.7287;MQ=60.0;MQ0=0;MQRankSum=-0.23;QD=14.97;ReadPosRankSum=-0.65;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPRC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000530727 GT:AD:DP:GQ:PL 0/1:25,24:49:99:763,0,838
1 198704294 rs7540378 C T 313.96 PASS AB=0.391;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.205;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=59.03;MQ0=0;MQRankSum=1.269;QD=13.08;ReadPosRankSum=0.0;SNPEFF_AMINO_ACID_CHANGE=G609;SNPEFF_CODON_CHANGE=ggC/ggT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_198704256_198704381;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPRC;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000348564 GT:AD:DP:GQ:PL 0/1:9,14:24:99:344,0,316
1 198711170 . CA C 167.35 PASS AB=0.711;AC=1;AF=0.50;AN=2;BaseQRankSum=0.664;DP=27;FS=0.0;HRun=12;HaplotypeScore=99.9951;IndelType=D;MQ=59.14;MQ0=0;MQRankSum=-0.606;QD=6.2;ReadPosRankSum=1.992;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPRC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271610 GT:AD:DP:GQ:PL 0/1:16,11:27:99:206,0,292
1 198717218 rs71286550 GTT G 189.51 PASS AB=0.595;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.579;DB;DP=25;FS=6.16;HRun=16;HaplotypeScore=150.1871;IndelType=D;MQ=58.08;MQ0=0;MQRankSum=1.659;QD=7.58;ReadPosRankSum=2.045;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPRC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271610 GT:AD:DP:GQ:PL 0/1:6,15:25:99:229,0,190
1 200089872 rs10494808 C T 230.56 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.444;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.171;QD=10.48;ReadPosRankSum=-0.034;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NR5A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236914 GT:AD:DP:GQ:PL 0/1:14,8:22:99:261,0,483
1 200090120 rs3762398 G A 761.58 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.255;DB;DP=51;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.311;QD=14.93;ReadPosRankSum=0.859;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NR5A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236914 GT:AD:DP:GQ:PL 0/1:24,27:51:99:792,0,709
1 200090219 rs3762397 C T 67.98 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=2.054;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.248;QD=7.55;ReadPosRankSum=1.001;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NR5A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236914 GT:AD:DP:GQ:PL 0/1:6,3:9:97.97:98,0,182
1 200143442 rs1060061 T C 334.60 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.42;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NR5A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000542116 GT:AD:DP:GQ:PL 1/1:0,11:11:27.09:368,27,0
1 200312546 rs142440706 CA C 170.56 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=1.129;DB;DP=32;FS=0.0;HRun=15;HaplotypeScore=148.0278;IndelType=D;MQ=58.89;MQ0=0;MQRankSum=0.066;QD=5.33;ReadPosRankSum=1.129;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf98;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367355 GT:AD:DP:GQ:PL 0/1:12,15:32:0.92:208,0,1
1 200522269 rs6667775 G A 160.37 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.07;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367350 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:193,15,0
1 200522351 rs10800708 A T 708.69 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.43;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367350 GT:AD:DP:GQ:PL 1/1:0,20:20:54.18:742,54,0
1 200522566 rs12120084 G C 1486.62 PASS AB=0.472;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.785;DB;DP=108;Dels=0.0;FS=11.612;HRun=0;HaplotypeScore=2.9931;MQ=59.83;MQ0=0;MQRankSum=-0.314;QD=13.76;ReadPosRankSum=-0.498;SNPEFF_AMINO_ACID_CHANGE=P1633A;SNPEFF_CODON_CHANGE=Cca/Gca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_200520628_200522895;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF14;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367350 GT:AD:DP:GQ:PL 0/1:51,57:108:99:1517,0,1740
1 200523514 rs7548174 A G 449.65 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.33;MQ0=0;QD=32.12;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367350 GT:AD:DP:GQ:PL 1/1:0,14:14:42.11:483,42,0
1 200534248 rs7543730 C T 3381.94 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.456;DB;DP=95;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.4538;MQ=59.56;MQ0=0;MQRankSum=-0.128;QD=35.6;ReadPosRankSum=-0.602;SNPEFF_AMINO_ACID_CHANGE=E1340;SNPEFF_CODON_CHANGE=gaG/gaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_200534197_200534381;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF14;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367350 GT:AD:DP:GQ:PL 1/1:1,94:95:99:3382,211,0
1 200538885 rs10800711 C T 93.02 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.01;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367350 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:125,9,0
1 200549590 rs10753877 T C 756.88 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.4;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367350 GT:AD:DP:GQ:PL 1/1:0,22:22:60.17:790,60,0
1 200550166 rs12093062 C T 50.05 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.08;MQ0=0;QD=25.02;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367350 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
1 200555074 rs12092539 C G 30.02 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.684;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.684;QD=3.75;ReadPosRankSum=-0.956;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367350 GT:AD:DP:GQ:PL 0/1:5,3:8:60.01:60,0,187
1 200555482 rs6691410 C T 243.77 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.628;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.158;QD=15.24;ReadPosRankSum=-0.998;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367350 GT:AD:DP:GQ:PL 0/1:8,8:16:99:274,0,274
1 200558363 rs6665951 T C 3785.87 PASS AC=2;AF=1.00;AN=2;DB;DP=110;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.58;MQ0=0;QD=34.42;SNPEFF_AMINO_ACID_CHANGE=E1032;SNPEFF_CODON_CHANGE=gaA/gaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_200558345_200558497;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF14;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367350 GT:AD:DP:GQ:PL 1/1:0,110:110:99:3786,286,0
1 200569392 rs2809357 C A 1685.78 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=59.49;MQ0=0;QD=37.46;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367350 GT:AD:DP:GQ:PL 1/1:0,45:45:99:1719,132,0
1 200573258 rs2808237 C G 169.12 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.82;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367350 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:202,15,0
1 200578093 rs2794409 G A 630.02 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.71;MQ0=0;QD=35.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367350 GT:AD:DP:GQ:PL 1/1:0,18:18:51.16:663,51,0
1 200594005 rs2808257 C T 523.59 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.977;DB;DP=36;Dels=0.0;FS=6.084;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.589;QD=14.54;ReadPosRankSum=-1.958;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367350 GT:AD:DP:GQ:PL 0/1:16,20:36:99:554,0,447
1 200594240 rs2809350 G A 258.27 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.7;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DDX59;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000447706 GT:AD:DP:GQ:PL 1/1:0,9:9:21.07:291,21,0
1 200610525 rs5780032 TA T 142.57 PASS AC=2;AF=1.00;AN=2;DB;DP=9;FS=0.0;HRun=14;HaplotypeScore=36.7758;IndelType=D;MQ=58.63;MQ0=0;QD=15.84;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DDX59;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331314 GT:AD:DP:GQ:PL 1/1:2,7:9:26.76:185,27,0
1 200618238 rs6665604 T C 2466.95 PASS AC=2;AF=1.00;AN=2;DB;DP=76;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.46;SNPEFF_AMINO_ACID_CHANGE=S115;SNPEFF_CODON_CHANGE=tcA/tcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_200618202_200618354;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DDX59;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000413408 GT:AD:DP:GQ:PL 1/1:0,76:76:99:2500,190,0
1 200619478 rs2808230 C A 486.28 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.41;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DDX59;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000453944 GT:AD:DP:GQ:PL 1/1:0,13:13:39.13:519,39,0
1 200619530 rs2809365 T C 920.52 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.35;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DDX59;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000453944 GT:AD:DP:GQ:PL 1/1:0,24:24:69.23:954,69,0
1 200632960 rs57155598 T C 131.19 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=2.45;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=57.87;MQ0=0;MQRankSum=0.47;QD=11.93;ReadPosRankSum=1.268;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DDX59;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000436897 GT:AD:DP:GQ:PL 0/1:5,6:11:99:161,0,173
1 200632966 rs60572979 A G 129.65 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=0.143;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=0.466;QD=11.79;ReadPosRankSum=0.717;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DDX59;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000436897 GT:AD:DP:GQ:PL 0/1:5,6:11:99:160,0,164
1 200635550 rs3795634 T C 520.15 PASS AB=0.488;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.414;DB;DP=44;Dels=0.0;FS=1.582;HRun=0;HaplotypeScore=0.0;MQ=59.05;MQ0=0;MQRankSum=1.761;QD=11.82;ReadPosRankSum=-0.863;SNPEFF_AMINO_ACID_CHANGE=I107V;SNPEFF_CODON_CHANGE=Atc/Gtc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_200635065_200635879;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DDX59;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000331314 GT:AD:DP:GQ:PL 0/1:21,22:44:99:550,0,656
1 200635560 rs3795633 T C 537.20 PASS AB=0.512;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.83;DB;DP=41;Dels=0.0;FS=1.582;HRun=4;HaplotypeScore=0.0;MQ=58.98;MQ0=0;MQRankSum=1.187;QD=13.1;ReadPosRankSum=-0.352;SNPEFF_AMINO_ACID_CHANGE=P103;SNPEFF_CODON_CHANGE=ccA/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_200635065_200635879;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DDX59;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000331314 GT:AD:DP:GQ:PL 0/1:21,20:41:99:567,0,695
1 200635618 rs146060105 C G 639.37 PASS AB=0.389;AC=1;AF=0.50;AN=2;BaseQRankSum=0.016;DB;DP=36;Dels=0.0;FS=1.297;HRun=2;HaplotypeScore=0.0;MQ=59.48;MQ0=0;MQRankSum=-0.568;QD=17.76;ReadPosRankSum=1.639;SNPEFF_AMINO_ACID_CHANGE=S84T;SNPEFF_CODON_CHANGE=aGc/aCc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_200635065_200635879;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DDX59;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000331314 GT:AD:DP:GQ:PL 0/1:14,22:36:99:669,0,437
1 200635721 rs150913822 C G 724.64 PASS AB=0.51;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.801;DB;DP=51;Dels=0.0;FS=8.414;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.179;QD=14.21;ReadPosRankSum=-0.367;SNPEFF_AMINO_ACID_CHANGE=A50P;SNPEFF_CODON_CHANGE=Gcc/Ccc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_200635065_200635879;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DDX59;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000331314 GT:AD:DP:GQ:PL 0/1:26,25:51:99:755,0,813
1 200801621 rs1874080 T A 168.77 PASS AB=0.111;AC=1;AF=0.50;AN=2;BaseQRankSum=0.751;DB;DP=9;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.751;QD=18.75;ReadPosRankSum=0.751;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAMSAP1L1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236925 GT:AD:DP:GQ:PL 0/1:1,8:9:2.62:198,0,3
1 200816521 rs2172666 G T 113.73 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=7;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.95;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAMSAP1L1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236925 GT:AD:DP:GQ:PL 1/1:0,6:6:12.04:146,12,0
1 200816658 rs2131834 T C 502.21 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAMSAP1L1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236925 GT:AD:DP:GQ:PL 1/1:0,14:14:42.12:535,42,0
1 200821536 rs10800743 C T 237.40 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.28;MQ0=0;QD=33.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAMSAP1L1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236925 GT:AD:DP:GQ:PL 1/1:0,7:7:21.06:270,21,0
1 200824978 rs61825260 C T 269.89 SnpCluster AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=44.08;MQ0=0;QD=20.76;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAMSAP1L1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236925 GT:AD:DP:GQ:PL 1/1:0,13:13:35.94:303,36,0
1 200824980 rs2029752 C T 156.33 SnpCluster AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=44.08;MQ0=0;QD=12.03;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAMSAP1L1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236925 GT:AD:DP:GQ:PL 1/1:0,13:13:23.91:189,24,0
1 200824981 rs2029753 C T 157.34 SnpCluster AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=44.08;MQ0=0;QD=12.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAMSAP1L1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236925 GT:AD:DP:GQ:PL 1/1:0,13:13:23.92:190,24,0
1 200842005 rs61825263 T A 85.78 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.44;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR25;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304244 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:118,9,0
1 200842006 rs35650485 C G 84.96 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.24;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR25;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304244 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:117,9,0
1 200843305 rs3738250 G T 74.63 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=14.93;ReadPosRankSum=1.231;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR25;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304244 GT:AD:DP:GQ:PL 0/1:2,3:5:70.19:105,0,70
1 200868493 rs72225687 GTGTGTGTGCA G 900.89 PASS AB=0.622;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.519;DB;DP=23;FS=0.0;HRun=0;HaplotypeScore=228.9557;IndelType=D;MQ=47.18;MQ0=0;MQRankSum=0.0;QD=39.17;ReadPosRankSum=0.217;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf106;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367342 GT:AD:DP:GQ:PL 0/1:9,14:23:44.09:940,0,44
1 200877850 rs41299637 T G 4468.55 PASS AC=2;AF=1.00;AN=2;DB;DP=142;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.1567;MQ=59.51;MQ0=0;QD=31.47;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf106;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000531649 GT:AD:DP:GQ:PL 1/1:0,142:142:99:4469,352,0
1 200943793 rs71991687 CAGGA C 1078.22 PASS AC=2;AF=1.00;AN=2;DB;DP=20;FS=0.0;HRun=0;HaplotypeScore=109.5528;IndelType=D;MQ=53.27;MQ0=0;QD=53.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=KIF21B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000332129 GT:AD:DP:GQ:PL 1/1:0,20:20:60.21:1120,60,0
1 200957697 rs12142704 A G 101.11 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=47.12;MQ0=0;QD=25.28;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=KIF21B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000332129 GT:AD:DP:GQ:PL 1/1:0,4:4:12.03:134,12,0
1 200960307 rs2297909 G A 625.21 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=39.08;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=KIF21B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000332129 GT:AD:DP:GQ:PL 1/1:0,16:16:48.16:658,48,0
1 200965130 rs7531978 G T 84.34 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=14.06;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=KIF21B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000332129 GT:AD:DP:GQ:PL 1/1:0,6:6:9.03:116,9,0
1 200965601 rs10920088 G A 693.04 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.48;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=KIF21B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000534043 GT:AD:DP:GQ:PL 1/1:0,19:19:57.16:726,57,0
1 200967490 rs10920089 A G 1271.11 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.5784;MQ=58.97;MQ0=0;QD=28.25;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=KIF21B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000534043 GT:AD:DP:GQ:PL 1/1:0,45:45:99:1304,105,0
1 200975040 rs6657915 T C 48.08 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=49.84;MQ0=0;QD=24.04;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=KIF21B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000332129 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
1 201009556 rs1546416 A G 413.57 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=56.85;MQ0=0;QD=27.57;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA1S;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000362061 GT:AD:DP:GQ:PL 1/1:0,15:15:33.11:447,33,0
1 201009897 rs6427875 T C 100.36 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA1S;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000362061 GT:AD:DP:GQ:PL 1/1:0,5:5:12.03:133,12,0
1 201012597 rs41267497 G A 215.32 PASS AB=0.609;AC=1;AF=0.50;AN=2;BaseQRankSum=0.913;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=-0.094;QD=9.36;ReadPosRankSum=0.85;SNPEFF_AMINO_ACID_CHANGE=P1601;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_201012409_201012659;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA1S;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367338 GT:AD:DP:GQ:PL 0/1:14,9:23:99:245,0,489
1 201013336 rs2297906 T C 319.10 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.46;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA1S;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000362061 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:352,27,0
1 201020360 rs12138260 G A 98 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=0.278;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.278;QD=8.91;ReadPosRankSum=-1.034;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA1S;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000362061 GT:AD:DP:GQ:PL 0/1:7,4:11:99:128,0,247
1 201038687 rs7415038 A G 168.46 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.69;SNPEFF_AMINO_ACID_CHANGE=F801;SNPEFF_CODON_CHANGE=ttT/ttC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_201038600_201038729;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA1S;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000362061 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:201,15,0
1 201042476 rs72458456 TCTG T 307.97 PASS AC=2;AF=1.00;AN=2;DB;DP=7;FS=0.0;HRun=0;HaplotypeScore=29.7549;IndelType=D;MQ=44.98;MQ0=0;QD=44.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA1S;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000362061 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:350,21,0
1 201043845 rs66932448 ACT A 173.22 PASS AC=2;AF=1.00;AN=2;DB;DP=5;FS=0.0;HRun=0;HaplotypeScore=17.6041;IndelType=D;MQ=60.0;MQ0=0;QD=34.64;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA1S;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000362061 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:215,15,0
1 201044748 rs1998721 A G 2499.46 PASS AC=2;AF=1.00;AN=2;DB;DP=73;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.37;MQ0=0;QD=34.24;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA1S;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000362061 GT:AD:DP:GQ:PL 1/1:0,72:73:99:2532,187,0
1 201046379 rs925060 T G 157.96 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.59;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA1S;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000362061 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:191,15,0
1 201046388 rs6672094 A G 124.76 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.19;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA1S;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000362061 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:157,12,0
1 201047075 rs4915477 A G 1187.44 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.27;SNPEFF_AMINO_ACID_CHANGE=G517;SNPEFF_CODON_CHANGE=ggT/ggC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_201047007_201047232;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA1S;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000362061 GT:AD:DP:GQ:PL 1/1:0,42:42:99:1220,102,0
1 201047111 rs9427714 A G 1935.29 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;QD=35.84;SNPEFF_AMINO_ACID_CHANGE=C505;SNPEFF_CODON_CHANGE=tgT/tgC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_201047007_201047232;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA1S;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000362061 GT:AD:DP:GQ:PL 1/1:0,54:54:99:1968,150,0
1 201052310 rs12742169 A T 1236.50 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9832;MQ=57.66;MQ0=0;QD=30.91;SNPEFF_AMINO_ACID_CHANGE=L458H;SNPEFF_CODON_CHANGE=cTc/cAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_201052290_201052450;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA1S;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000362061 GT:AD:DP:GQ:PL 1/1:0,39:40:99:1270,102,0
1 201052312 rs12742170 A C 1345.61 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9832;MQ=57.71;MQ0=0;QD=32.82;SNPEFF_AMINO_ACID_CHANGE=P457;SNPEFF_CODON_CHANGE=ccT/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_201052290_201052450;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA1S;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000362061 GT:AD:DP:GQ:PL 1/1:1,40:41:99:1379,105,0
1 201052474 rs12724643 T C 1046.40 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.108;DB;DP=33;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.8317;MQ=59.43;MQ0=0;MQRankSum=1.625;QD=31.71;ReadPosRankSum=0.866;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA1S;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000362061 GT:AD:DP:GQ:PL 1/1:1,32:33:47.27:1079,47,0
1 201052562 rs12743065 G T 346.74 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.05;MQ0=0;QD=28.89;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA1S;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000362061 GT:AD:DP:GQ:PL 1/1:0,12:12:30.09:380,30,0
1 201056749 rs72749197 T C 77.05 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=19.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA1S;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000362061 GT:AD:DP:GQ:PL 1/1:0,4:4:9:109,9,0
1 201058692 rs2296384 T C 132.15 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=55.16;MQ0=0;QD=33.04;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA1S;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000362061 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:165,12,0
1 201060865 rs2296383 G A 476.85 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.226;DB;DP=30;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8667;MQ=59.23;MQ0=0;MQRankSum=0.478;QD=15.9;ReadPosRankSum=0.644;SNPEFF_AMINO_ACID_CHANGE=I199;SNPEFF_CODON_CHANGE=atC/atT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_201060768_201060920;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA1S;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000362061 GT:AD:DP:GQ:PL 0/1:14,16:30:99:507,0,461
1 201112981 rs8158 A G 730.33 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=58.99;MQ0=0;QD=31.75;SNPEFF_AMINO_ACID_CHANGE=Y122;SNPEFF_CODON_CHANGE=taT/taC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_201112948_201113079;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM9;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367329 GT:AD:DP:GQ:PL 1/1:0,23:23:60.15:763,60,0
1 201113118 rs3738266 A G 403.53 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.2;MQ0=0;QD=31.04;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000414605 GT:AD:DP:GQ:PL 1/1:0,13:13:33.11:437,33,0
1 201115822 rs3752978 A G 585.30 PASS AB=0.521;AC=1;AF=0.50;AN=2;BaseQRankSum=0.539;DB;DP=48;Dels=0.0;FS=3.04;HRun=1;HaplotypeScore=1.5253;MQ=59.52;MQ0=0;MQRankSum=-0.297;QD=12.19;ReadPosRankSum=0.143;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000414605 GT:AD:DP:GQ:PL 0/1:25,23:48:99:615,0,667
1 201116018 rs3752979 C G 1178.83 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.67;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367329 GT:AD:DP:GQ:PL 1/1:0,34:34:90.29:1212,90,0
1 201120730 rs2068152 C A 420.60 PASS AB=0.3;AC=1;AF=0.50;AN=2;BaseQRankSum=1.113;DB;DP=20;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.784;QD=21.03;ReadPosRankSum=-2.681;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367329 GT:AD:DP:GQ:PL 0/1:6,14:20:99:451,0,193
1 201121225 rs3818435 T A 49.20 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.6;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367329 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:80,6,0
1 201122784 rs6684980 C T 279.94 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.99;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367329 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:313,24,0
1 201122947 rs1925361 T G 934.85 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.6651;MQ=59.47;MQ0=0;QD=26.71;SNPEFF_AMINO_ACID_CHANGE=T35;SNPEFF_CODON_CHANGE=acA/acC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_201122911_201123087;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM9;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000414605 GT:AD:DP:GQ:PL 1/1:0,35:35:78.22:968,78,0
1 201162411 rs12089471 G A 121.21 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.371;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.206;QD=6.06;ReadPosRankSum=0.866;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_1_201162375_201162428;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=IGFN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295591 GT:AD:DP:GQ:PL 0/1:14,6:20:99:151,0,483
1 201165243 rs4915220 C T 74.69 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=1.754;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.55;QD=10.67;ReadPosRankSum=0.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=IGFN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295591 GT:AD:DP:GQ:PL 0/1:4,3:7:99:105,0,123
1 201166281 rs7533096 C T 70.98 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.55;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.55;QD=10.14;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=IGFN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295591 GT:AD:DP:GQ:PL 0/1:4,3:7:99:101,0,144
1 201166383 rs4915221 G A 164.48 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.093;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=58.55;MQ0=0;MQRankSum=0.555;QD=12.65;ReadPosRankSum=0.377;SNPEFF_AMINO_ACID_CHANGE=R102H;SNPEFF_CODON_CHANGE=cGc/cAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_201166346_201166445;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=IGFN1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000335211 GT:AD:DP:GQ:PL 0/1:7,6:13:99:194,0,208
1 201166435 rs11589317 T C 253.68 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.39;MQ0=0;QD=28.19;SNPEFF_AMINO_ACID_CHANGE=T119;SNPEFF_CODON_CHANGE=acT/acC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_201166346_201166445;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=IGFN1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000335211 GT:AD:DP:GQ:PL 1/1:0,9:9:24.07:287,24,0
1 201169601 rs35998091 C T 360.03 PASS AB=0.368;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.718;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.78;MQ0=0;MQRankSum=-0.887;QD=18.95;ReadPosRankSum=0.634;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=IGFN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295591 GT:AD:DP:GQ:PL 0/1:7,12:19:99:390,0,233
1 201170772 rs10157730 A G 692.80 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.46;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=IGFN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295591 GT:AD:DP:GQ:PL 1/1:0,19:19:54.18:726,54,0
1 201170824 rs10158976 C G 1174.76 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.32;MQ0=0;QD=34.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=IGFN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295591 GT:AD:DP:GQ:PL 1/1:0,34:34:90.26:1208,90,0
1 201171007 rs10800762 T G 728.16 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.67;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=IGFN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295591 GT:AD:DP:GQ:PL 1/1:0,21:21:57.17:761,57,0
1 201173104 rs832160 C T 130.99 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.75;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=IGFN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295591 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:163,12,0
1 201174204 rs12725611 C T 180.56 PASS AB=0.679;AC=1;AF=0.50;AN=2;BaseQRankSum=0.489;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.5981;MQ=60.0;MQ0=0;MQRankSum=0.283;QD=6.45;ReadPosRankSum=-0.591;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=IGFN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295591 GT:AD:DP:GQ:PL 0/1:19,9:28:99:211,0,566
1 201175227 rs832156 C A 209.18 PASS AB=0.438;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.529;DB;DP=16;Dels=0.0;FS=1.987;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.318;QD=13.07;ReadPosRankSum=0.212;SNPEFF_AMINO_ACID_CHANGE=D402E;SNPEFF_CODON_CHANGE=gaC/gaA;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_201175211_201182749;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=IGFN1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000335211 GT:AD:DP:GQ:PL 0/1:7,9:16:99:239,0,213
1 201175274 rs9651057 A G 328.41 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.37;SNPEFF_AMINO_ACID_CHANGE=Q418R;SNPEFF_CODON_CHANGE=cAg/cGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_201175211_201182749;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=IGFN1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000335211 GT:AD:DP:GQ:PL 1/1:0,12:12:27.09:361,27,0
1 201175715 rs1341631 G T 40.37 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=10.09;ReadPosRankSum=-1.026;SNPEFF_AMINO_ACID_CHANGE=R565L;SNPEFF_CODON_CHANGE=cGg/cTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_201175211_201182749;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=IGFN1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000335211 GT:AD:DP:GQ:PL 0/1:2,2:4:68.40:70,0,68
1 201184097 rs4915496 G A 101.51 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=0.876;DB;DP=9;Dels=0.0;FS=3.522;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.361;QD=11.28;ReadPosRankSum=1.159;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=IGFN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295591 GT:AD:DP:GQ:PL 0/1:5,4:9:99:132,0,169
1 201187764 rs10920144 T C 652.19 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.84;MQ0=0;QD=32.61;SNPEFF_AMINO_ACID_CHANGE=A3292;SNPEFF_CODON_CHANGE=gcT/gcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_201187658_201187786;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=IGFN1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000335211 GT:AD:DP:GQ:PL 1/1:0,20:20:54.16:685,54,0
1 201187828 rs3738268 T C 452.23 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.15;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=IGFN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000451870 GT:AD:DP:GQ:PL 1/1:0,15:15:36.12:485,36,0
1 201190732 rs3738269 G A 493.88 PASS AB=0.379;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.047;DB;DP=29;Dels=0.0;FS=4.192;HRun=0;HaplotypeScore=1.8737;MQ=59.2;MQ0=0;MQRankSum=0.988;QD=17.03;ReadPosRankSum=1.646;SNPEFF_AMINO_ACID_CHANGE=V3353;SNPEFF_CODON_CHANGE=gtG/gtA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_201190572_201190874;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=IGFN1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000335211 GT:AD:DP:GQ:PL 0/1:11,18:29:99:524,0,307
1 201193668 rs6687494 G T 52.28 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=IGFN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295591 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
1 201194174 rs12134361 A G 50.63 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=IGFN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295591 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
1 201195119 rs3738270 C T 128.02 PASS AB=0.688;AC=1;AF=0.50;AN=2;BaseQRankSum=0.453;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.05;MQ0=0;MQRankSum=-0.793;QD=8.0;ReadPosRankSum=0.566;SNPEFF_AMINO_ACID_CHANGE=H3552Y;SNPEFF_CODON_CHANGE=Cac/Tac;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_201194952_201195251;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=IGFN1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000335211 GT:AD:DP:GQ:PL 0/1:11,5:16:99:158,0,276
1 201195739 rs16848109 G C 95.49 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.83;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=IGFN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295591 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:128,9,0
1 201197299 rs3753970 G A 145.49 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.45;DB;DP=10;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.11;MQ0=0;MQRankSum=-0.336;QD=14.55;ReadPosRankSum=0.851;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=IGFN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295591 GT:AD:DP:GQ:PL 0/1:5,5:10:99:175,0,139
1 201197331 rs3753971 G A 535.46 PASS AB=0.36;AC=1;AF=0.50;AN=2;BaseQRankSum=3.878;DB;DP=25;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.368;QD=21.42;ReadPosRankSum=0.425;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=IGFN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295591 GT:AD:DP:GQ:PL 0/1:9,16:25:99:565,0,232
1 201197358 rs3753972 G C 206.06 PASS AB=0.724;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.171;DB;DP=29;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-2.318;QD=7.11;ReadPosRankSum=-0.122;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=IGFN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295591 GT:AD:DP:GQ:PL 0/1:21,8:29:99:236,0,765
1 201197471 rs3753973 T C 1210.62 PASS AB=0.542;AC=1;AF=0.50;AN=2;BaseQRankSum=0.173;DB;DP=97;Dels=0.0;FS=20.107;HRun=0;HaplotypeScore=1.8237;MQ=59.33;MQ0=0;MQRankSum=-0.77;QD=12.48;ReadPosRankSum=0.306;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=IGFN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295591 GT:AD:DP:GQ:PL 0/1:52,44:97:99:1241,0,1620
1 201252866 rs2268147 C T 282.10 PASS AB=0.45;AC=1;AF=0.50;AN=2;BaseQRankSum=1.821;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.578;QD=14.11;ReadPosRankSum=-0.844;SNPEFF_AMINO_ACID_CHANGE=Y12;SNPEFF_CODON_CHANGE=taC/taT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_201252580_201253032;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PKP1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000263946 GT:AD:DP:GQ:PL 0/1:9,11:20:99:312,0,188
1 201282573 rs35507614 A G 94.68 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.031;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.186;QD=8.61;ReadPosRankSum=1.031;SNPEFF_AMINO_ACID_CHANGE=I196V;SNPEFF_CODON_CHANGE=Ata/Gta;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_201282294_201282688;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PKP1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000263946 GT:AD:DP:GQ:PL 0/1:6,5:11:99:125,0,209
1 201285591 rs72753125 G A 70.49 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.406;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.537;QD=11.75;ReadPosRankSum=0.406;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PKP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263946 GT:AD:DP:GQ:PL 0/1:3,3:6:94.86:100,0,95
1 201285759 rs1779297 A G 637.63 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.56;SNPEFF_AMINO_ACID_CHANGE=K260;SNPEFF_CODON_CHANGE=aaA/aaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_201285681_201285825;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PKP1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000263946 GT:AD:DP:GQ:PL 1/1:0,19:19:51.16:671,51,0
1 201285909 rs1534051 A G 384.55 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.05;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PKP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263946 GT:AD:DP:GQ:PL 1/1:0,12:12:33.10:418,33,0
1 201286614 rs34292782 GA G 166.40 PASS AC=2;AF=1.00;AN=2;DB;DP=8;FS=0.0;HRun=10;HaplotypeScore=48.2371;IndelType=D;MQ=61.34;MQ0=0;QD=20.8;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PKP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263946 GT:AD:DP:GQ:PL 1/1:0,8:8:24:208,24,0
1 201286628 rs1772823 C G 251.60 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.45;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PKP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263946 GT:AD:DP:GQ:PL 1/1:0,8:8:21.07:285,21,0
1 201288007 rs1794868 G A 89.75 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.92;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PKP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263946 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:122,9,0
1 201288898 rs1722759 A C 1110.01 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.631;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=-1.121;QD=31.71;ReadPosRankSum=0.306;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PKP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263946 GT:AD:DP:GQ:PL 1/1:1,34:35:84.27:1143,84,0
1 201289646 rs1628711 T C 113.85 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=53.95;MQ0=0;QD=28.46;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PKP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475988 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:146,12,0
1 201290968 rs1779292 T G 50.72 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.36;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PKP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475988 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
1 201291066 rs2071960 C T 571.39 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.61;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PKP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475988 GT:AD:DP:GQ:PL 1/1:0,17:17:45.14:604,45,0
1 201292110 rs1779288 T C 2805.93 PASS AC=2;AF=1.00;AN=2;DB;DP=91;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.75;MQ0=0;QD=30.83;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PKP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475988 GT:AD:DP:GQ:PL 1/1:0,89:91:99:2839,214,0
1 201293512 rs36076398 TG T 121.05 PASS AB=0.778;AC=1;AF=0.50;AN=2;BaseQRankSum=2.997;DB;DP=21;FS=0.0;HRun=3;HaplotypeScore=49.8205;IndelType=D;MQ=58.89;MQ0=0;MQRankSum=0.584;QD=5.76;ReadPosRankSum=0.817;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PKP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475988 GT:AD:DP:GQ:PL 0/1:15,6:21:99:160,0,545
1 201293970 rs1620046 C T 1787.30 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=59.13;MQ0=0;QD=33.72;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PKP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475988 GT:AD:DP:GQ:PL 1/1:0,53:53:99:1820,138,0
1 201293985 rs854505 G A 1180.22 PASS AB=0.369;AC=1;AF=0.50;AN=2;BaseQRankSum=5.177;DB;DP=65;Dels=0.0;FS=8.502;HRun=2;HaplotypeScore=1.5661;MQ=58.93;MQ0=0;MQRankSum=1.511;QD=18.16;ReadPosRankSum=1.609;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PKP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475988 GT:AD:DP:GQ:PL 0/1:24,41:65:99:1210,0,573
1 201294278 rs41269943 G A 929.48 PASS AB=0.406;AC=1;AF=0.50;AN=2;BaseQRankSum=1.059;DB;DP=65;Dels=0.0;FS=2.866;HRun=0;HaplotypeScore=2.4328;MQ=59.29;MQ0=0;MQRankSum=-0.8;QD=14.3;ReadPosRankSum=-0.39;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PKP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475988 GT:AD:DP:GQ:PL 0/1:26,38:65:99:959,0,826
1 201331554 rs1104859 T G 676.67 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.22;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNNT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000412633 GT:AD:DP:GQ:PL 1/1:0,21:21:51.17:710,51,0
1 201331664 rs2365652 C A 233.57 PASS AB=0.125;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.747;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.63;MQ0=0;MQRankSum=0.747;QD=29.2;ReadPosRankSum=-0.747;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNNT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000412633 GT:AD:DP:GQ:PL 0/1:1,7:8:15.93:264,0,16
1 201334382 rs3729547 G A 3594.76 PASS AC=2;AF=1.00;AN=2;DB;DP=112;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.5592;MQ=59.79;MQ0=0;QD=32.1;SNPEFF_AMINO_ACID_CHANGE=I101;SNPEFF_CODON_CHANGE=atC/atT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_201334319_201334435;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNNT2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000360372 GT:AD:DP:GQ:PL 1/1:0,112:112:99:3595,262,0
1 201334795 rs3729845 C T 167.26 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=1.027;DB;DP=15;Dels=0.0;FS=1.987;HRun=0;HaplotypeScore=0.734;MQ=58.45;MQ0=0;MQRankSum=-0.201;QD=11.15;ReadPosRankSum=1.67;SNPEFF_AMINO_ACID_CHANGE=S10;SNPEFF_CODON_CHANGE=tcG/tcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_201334738_201334798;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNNT2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367319 GT:AD:DP:GQ:PL 0/1:8,7:15:99:197,0,192
1 201335899 rs1573230 C T 1571.18 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.54;MQ0=0;QD=31.42;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNNT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472177 GT:AD:DP:GQ:PL 1/1:0,50:50:99:1604,120,0
1 201336641 rs1892028 G A 75.93 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.31;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNNT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236918 GT:AD:DP:GQ:PL 1/1:0,3:3:9.02:108,9,0
1 201337170 rs3729842 A G 287.37 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.11;MQ0=0;QD=28.74;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNNT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236918 GT:AD:DP:GQ:PL 1/1:0,10:10:27.07:320,27,0
1 201338896 rs10920184 T C 1945.91 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.2;MQ0=0;QD=33.55;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000503578 GT:AD:DP:GQ:PL 1/1:0,58:58:99:1979,153,0
1 201339043 rs12049476 C T 645.66 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.84;MQ0=0;QD=32.28;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000503578 GT:AD:DP:GQ:PL 1/1:0,20:20:51.17:679,51,0
1 201341175 rs45533739 CAGAAG C 3953.22 PASS AC=2;AF=1.00;AN=2;DB;DP=66;FS=0.0;HRun=0;HaplotypeScore=405.3627;IndelType=D;MQ=55.14;MQ0=0;QD=59.9;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000503578 GT:AD:DP:GQ:PL 1/1:1,65:66:99:3953,193,0
1 201341341 rs868407 C T 1331.34 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=54.98;MQ0=0;QD=30.96;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000503578 GT:AD:DP:GQ:PL 1/1:0,43:43:99:1364,108,0
1 201352080 rs72737636 G A 527.16 PASS AB=0.486;AC=1;AF=0.50;AN=2;BaseQRankSum=1.964;DB;DP=35;Dels=0.0;FS=6.698;HRun=1;HaplotypeScore=0.0;MQ=58.67;MQ0=0;MQRankSum=1.667;QD=15.06;ReadPosRankSum=1.304;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367313 GT:AD:DP:GQ:PL 0/1:17,18:35:99:557,0,485
1 201353827 rs10920189 G C 1100.14 PASS AB=0.457;AC=1;AF=0.50;AN=2;BaseQRankSum=5.613;DB;DP=70;Dels=0.0;FS=3.499;HRun=2;HaplotypeScore=0.6651;MQ=59.67;MQ0=0;MQRankSum=-1.233;QD=15.72;ReadPosRankSum=0.439;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367313 GT:AD:DP:GQ:PL 0/1:32,38:70:99:1130,0,861
1 201354102 rs34070820 C G 244.13 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=0.865;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.627;QD=17.44;ReadPosRankSum=0.627;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367313 GT:AD:DP:GQ:PL 0/1:6,8:14:99:274,0,202
1 201355522 rs4128458 T C 126.11 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=2.266;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.551;QD=8.41;ReadPosRankSum=-0.796;SNPEFF_AMINO_ACID_CHANGE=K323E;SNPEFF_CODON_CHANGE=Aag/Gag;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_201355463_201356306;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAD1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000391967 GT:AD:DP:GQ:PL 0/1:10,5:15:99:156,0,364
1 201355669 rs68021059 T C 696.35 PASS AB=0.614;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.03;DB;DP=72;Dels=0.0;FS=9.407;HRun=0;HaplotypeScore=2.6278;MQ=58.05;MQ0=0;MQRankSum=0.235;QD=9.67;ReadPosRankSum=-0.352;SNPEFF_AMINO_ACID_CHANGE=T274A;SNPEFF_CODON_CHANGE=Act/Gct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_201355463_201356306;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAD1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000391967 GT:AD:DP:GQ:PL 0/1:43,27:72:99:726,0,1175
1 201355943 rs2799677 C T 1558.05 PASS AB=0.421;AC=1;AF=0.50;AN=2;BaseQRankSum=1.711;DB;DP=95;Dels=0.0;FS=1.733;HRun=2;HaplotypeScore=0.9578;MQ=59.22;MQ0=0;MQRankSum=1.665;QD=16.4;ReadPosRankSum=0.927;SNPEFF_AMINO_ACID_CHANGE=K182;SNPEFF_CODON_CHANGE=aaG/aaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_201355463_201356306;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAD1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000391967 GT:AD:DP:GQ:PL 0/1:40,55:95:99:1588,0,1183
1 201356428 rs4915230 C A 289.85 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=1.286;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.551;QD=19.32;ReadPosRankSum=-0.674;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367313 GT:AD:DP:GQ:PL 0/1:5,10:15:99:320,0,146
1 201383616 rs2026593 A G 43.42 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.71;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNNI1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336092 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:75,6,0
1 201383643 rs2026594 A C 80.43 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.81;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNNI1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336092 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:112,9,0
1 201437477 rs1256930 A T 376.01 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.921;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.034;QD=17.09;ReadPosRankSum=-0.375;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PHLDA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485436 GT:AD:DP:GQ:PL 0/1:8,14:22:99:406,0,196
1 201454373 . G A 881.67 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.37;DP=68;Dels=0.0;FS=2.738;HRun=0;HaplotypeScore=1.9648;MQ=58.7;MQ0=0;MQRankSum=1.097;QD=12.97;ReadPosRankSum=1.06;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CSRP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000458271 GT:AD:DP:GQ:PL 0/1:34,34:68:99:912,0,1117
1 201457963 . A G 154.78 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.242;DP=32;Dels=0.0;FS=6.683;HRun=0;HaplotypeScore=0.8321;MQ=58.69;MQ0=0;MQRankSum=-0.065;QD=4.84;ReadPosRankSum=-1.588;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CSRP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471596 GT:AD:DP:GQ:PL 0/1:24,8:32:99:185,0,649
1 201687406 rs11588142 G A 168.74 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.689;DB;DP=12;Dels=0.0;FS=3.802;HRun=1;HaplotypeScore=0.0;MQ=58.05;MQ0=0;MQRankSum=1.309;QD=14.06;ReadPosRankSum=-0.244;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NAV1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295624 GT:AD:DP:GQ:PL 0/1:5,7:12:99:199,0,170
1 201687451 rs11576721 A G 247.01 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.062;DB;DP=20;Dels=0.0;FS=2.35;HRun=0;HaplotypeScore=0.0;MQ=57.66;MQ0=0;MQRankSum=0.794;QD=12.35;ReadPosRankSum=-0.189;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NAV1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295624 GT:AD:DP:GQ:PL 0/1:10,10:20:99:277,0,275
1 201749520 rs529581 G C 2046.52 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.28;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NAV1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295624 GT:AD:DP:GQ:PL 1/1:0,58:58:99:2080,153,0
1 201752164 rs552840 A G 51.75 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NAV1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295624 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:83,6,0
1 201752429 rs527725 A C 2821.19 PASS AC=2;AF=1.00;AN=2;DB;DP=69;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.33;MQ0=0;QD=40.89;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NAV1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295624 GT:AD:DP:GQ:PL 1/1:0,69:69:99:2854,208,0
1 201754410 rs36061932 CTT C 97.91 QDFilter2 AB=0.814;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.457;DB;DP=133;FS=5.663;HRun=17;HaplotypeScore=1123.0635;IndelType=D;MQ=50.68;MQ0=2;MQRankSum=2.512;QD=0.72;ReadPosRankSum=1.547;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NAV1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295624 GT:AD:DP:GQ:PL 0/1:103,14:133:99:137,0,844
1 201754411 rs59543474 T TC 1268.94 PASS AB=0.833;AC=1;AF=0.50;AN=2;BaseQRankSum=0.377;DB;DP=132;FS=1.986;HRun=1;HaplotypeScore=966.0982;IndelType=I;MQ=50.81;MQ0=2;MQRankSum=0.851;QD=9.4;ReadPosRankSum=1.77;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NAV1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295624 GT:AD:DP:GQ:PL 0/1:108,27:132:99:1308,0,1018
1 201755469 rs12563363 C G 1019.78 PASS AB=0.521;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.306;DB;DP=71;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.412;QD=14.36;ReadPosRankSum=-0.518;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NAV1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295624 GT:AD:DP:GQ:PL 0/1:37,34:71:99:1050,0,1190
1 201755933 rs12048682 A G 41.96 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.026;QD=10.49;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NAV1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295624 GT:AD:DP:GQ:PL 0/1:2,2:4:66.99:72,0,67
1 201759121 rs16849352 T G 76.25 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.358;QD=15.25;ReadPosRankSum=1.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NAV1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295624 GT:AD:DP:GQ:PL 0/1:2,3:5:66.83:106,0,67
1 201763467 . AC A 246.58 PASS AB=0.679;AC=1;AF=0.50;AN=2;BaseQRankSum=2.98;DP=19;FS=0.0;HRun=2;HaplotypeScore=58.9888;IndelType=D;MQ=60.57;MQ0=0;MQRankSum=1.266;QD=12.98;ReadPosRankSum=-0.531;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NAV1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295624 GT:AD:DP:GQ:PL 0/1:10,9:19:99:286,0,381
1 201772863 rs34105833 T TG 957.44 PASS AC=2;AF=1.00;AN=2;DB;DP=25;FS=0.0;HRun=6;HaplotypeScore=51.363;IndelType=I;MQ=60.81;MQ0=0;QD=38.3;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NAV1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477118 GT:AD:DP:GQ:PL 1/1:0,25:25:72.24:999,72,0
1 201773728 . AAAT A 499.50 PASS AB=0.86;AC=1;AF=0.50;AN=2;BaseQRankSum=0.956;DP=43;FS=0.0;HRun=0;HaplotypeScore=410.6111;IndelType=D;MQ=39.33;MQ0=0;MQRankSum=-0.087;QD=11.62;ReadPosRankSum=1.95;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NAV1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477118 GT:AD:DP:GQ:PL 0/1:36,7:43:99:539,0,518
1 201773729 . AAT A 556.87 PASS AB=0.896;AC=1;AF=0.50;AN=2;BaseQRankSum=0.376;DP=43;FS=0.0;HRun=0;HaplotypeScore=394.9053;IndelType=D;MQ=39.33;MQ0=0;MQRankSum=-0.505;QD=12.95;ReadPosRankSum=1.541;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NAV1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477118 GT:AD:DP:GQ:PL 0/1:38,5:43:99:596,0,415
1 201780458 rs1878610 G A 43.95 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.98;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NAV1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295624 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:75,6,0
1 201788804 rs11803449 G A 163.74 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.75;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NAV1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295624 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:196,15,0
1 201816572 rs12042456 G A 359.23 PASS AB=0.45;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.152;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.216;QD=17.96;ReadPosRankSum=-0.228;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IPO9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361565 GT:AD:DP:GQ:PL 0/1:9,11:20:99:389,0,308
1 201824390 rs11576508 G A 318.29 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.692;DB;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.879;QD=14.47;ReadPosRankSum=0.165;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IPO9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464348 GT:AD:DP:GQ:PL 0/1:12,10:22:99:348,0,430
1 201832451 rs2678206 T G 282.88 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IPO9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361565 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:316,24,0
1 201837934 rs34353605 CGT C 213.52 PASS AB=0.719;AC=1;AF=0.50;AN=2;BaseQRankSum=3.532;DB;DP=23;FS=2.077;HRun=0;HaplotypeScore=80.3175;IndelType=D;MQ=61.4;MQ0=0;MQRankSum=-0.353;QD=9.28;ReadPosRankSum=0.442;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IPO9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361565 GT:AD:DP:GQ:PL 0/1:14,9:23:99:253,0,333
1 201840059 rs3830534 GTTATT G 232.97 PASS AB=0.688;AC=1;AF=0.50;AN=2;BaseQRankSum=2.45;DB;DP=11;FS=0.0;HRun=0;HaplotypeScore=57.4046;IndelType=D;MQ=53.36;MQ0=0;MQRankSum=-1.668;QD=21.18;ReadPosRankSum=0.851;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IPO9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361565 GT:AD:DP:GQ:PL 0/1:6,5:11:99:272,0,389
1 201840210 rs950114 T C 371.06 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=0.415;DB;DP=27;Dels=0.0;FS=2.447;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.708;QD=13.74;ReadPosRankSum=0.903;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IPO9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361565 GT:AD:DP:GQ:PL 0/1:15,12:27:99:401,0,537
1 201840464 rs2644124 T C 898.51 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.03;FS=0.0;HRun=2;HaplotypeScore=1.933;MQ=53.74;MQ0=0;QD=28.98;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IPO9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361565 GT:AD:DP:GQ:PL 1/1:0,30:30:75.21:932,75,0
1 201844128 rs2678203 G A 1545.20 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.58;MQ0=0;QD=35.12;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IPO9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361565 GT:AD:DP:GQ:PL 1/1:0,44:44:99:1578,120,0
1 201860626 rs2250377 A G 3571.96 PASS AC=2;AF=1.00;AN=2;DB;DP=105;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.1567;MQ=59.56;MQ0=0;QD=34.02;SNPEFF_AMINO_ACID_CHANGE=I159M;SNPEFF_CODON_CHANGE=atA/atG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_201860529_201860696;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SHISA4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000362011 GT:AD:DP:GQ:PL 1/1:0,105:105:99:3572,274,0
1 201861016 rs2279681 C G 1860.03 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.57;MQ0=0;QD=34.45;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LMOD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367288 GT:AD:DP:GQ:PL 1/1:0,54:54:99:1893,144,0
1 201865763 rs8028 A G 736.31 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.01;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LMOD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000412469 GT:AD:DP:GQ:PL 1/1:0,23:23:60.18:769,60,0
1 201924725 rs144645970 A G 295.80 PASS AB=0.421;AC=1;AF=0.50;AN=2;BaseQRankSum=1.449;DB;DP=19;Dels=0.0;FS=3.039;HRun=0;HaplotypeScore=0.9987;MQ=58.78;MQ0=0;MQRankSum=1.268;QD=15.57;ReadPosRankSum=-1.087;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TIMM17A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367287 GT:AD:DP:GQ:PL 0/1:8,11:19:99:326,0,213
1 201924749 rs3820438 G C 320.90 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.33;MQ0=0;QD=22.92;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TIMM17A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367287 GT:AD:DP:GQ:PL 1/1:0,14:14:33.07:354,33,0
1 201926386 rs66503553 C CT 299.70 PASS AB=0.647;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.279;DB;DP=22;FS=0.0;HRun=8;HaplotypeScore=79.6272;IndelType=I;MQ=60.49;MQ0=0;MQRankSum=0.347;QD=13.62;ReadPosRankSum=-0.81;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TIMM17A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367287 GT:AD:DP:GQ:PL 0/1:10,11:22:99:339,0,160
1 201926403 rs61821487 T G 258.08 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.052;DB;DP=28;Dels=0.0;FS=4.483;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.052;QD=9.22;ReadPosRankSum=-0.156;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TIMM17A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367287 GT:AD:DP:GQ:PL 0/1:16,12:28:99:288,0,499
1 201934578 rs4648 G A 564.20 PASS AB=0.344;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.825;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9894;MQ=60.0;MQ0=0;MQRankSum=0.04;QD=17.1;ReadPosRankSum=0.595;SNPEFF_AMINO_ACID_CHANGE=V113I;SNPEFF_CODON_CHANGE=Gtt/Att;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_201934561_201934671;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TIMM17A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367287 GT:AD:DP:GQ:PL 0/1:11,21:33:99:594,0,378
1 201966295 rs143195550 TG T 119.95 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=9;FS=0.0;HRun=3;HaplotypeScore=32.4057;IndelType=D;MQ=61.19;MQ0=0;MQRankSum=0.361;QD=13.33;ReadPosRankSum=0.729;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RNPEP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295640 GT:AD:DP:GQ:PL 0/1:4,5:9:99:159,0,146
1 201969082 rs1130790 G A 313.29 PASS AB=0.458;AC=1;AF=0.50;AN=2;BaseQRankSum=0.4;DB;DP=24;Dels=0.0;FS=3.821;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.877;QD=13.05;ReadPosRankSum=-1.569;SNPEFF_AMINO_ACID_CHANGE=Q250;SNPEFF_CODON_CHANGE=caG/caA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_201969030_201969143;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RNPEP;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000447312 GT:AD:DP:GQ:PL 0/1:11,13:24:99:343,0,259
1 201970562 rs4332408 T C 1043.77 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.7;SNPEFF_AMINO_ACID_CHANGE=V129;SNPEFF_CODON_CHANGE=gtT/gtC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_201970504_201970616;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RNPEP;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000449524 GT:AD:DP:GQ:PL 1/1:0,34:34:81.26:1077,81,0
1 201970748 rs4131469 G A 1118.47 PASS AB=0.426;AC=1;AF=0.50;AN=2;BaseQRankSum=4.318;DB;DP=68;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=58.98;MQ0=0;MQRankSum=-0.824;QD=16.45;ReadPosRankSum=0.556;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RNPEP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479726 GT:AD:DP:GQ:PL 0/1:29,39:68:99:1148,0,649
1 201970986 rs35227221 C CA 269.65 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.524;DB;DP=14;FS=0.0;HRun=4;HaplotypeScore=28.3803;IndelType=I;MQ=60.77;MQ0=0;MQRankSum=-1.092;QD=19.26;ReadPosRankSum=-0.437;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RNPEP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000447312 GT:AD:DP:GQ:PL 0/1:6,8:14:99:309,0,156
1 201973565 rs3820439 G A 2013.27 PASS AB=0.507;AC=1;AF=0.50;AN=2;BaseQRankSum=2.543;DB;DP=141;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=4.9347;MQ=59.48;MQ0=0;MQRankSum=1.048;QD=14.28;ReadPosRankSum=0.441;SNPEFF_AMINO_ACID_CHANGE=V540I;SNPEFF_CODON_CHANGE=Gtc/Atc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_201973482_201973624;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RNPEP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367286 GT:AD:DP:GQ:PL 0/1:71,69:141:99:2043,0,2095
1 201974503 rs10737577 C T 169.74 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.736;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=53.03;MQ0=0;MQRankSum=0.736;QD=24.25;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RNPEP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000447312 GT:AD:DP:GQ:PL 1/1:1,5:7:15.05:202,15,0
1 201980119 rs2819361 C G 163.47 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.69;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RNPEP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295640 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:196,15,0
1 201981218 rs11543979 C G 750.95 PASS AB=0.54;AC=1;AF=0.50;AN=2;BaseQRankSum=4.999;DB;DP=63;Dels=0.0;FS=2.597;HRun=2;HaplotypeScore=1.445;MQ=58.89;MQ0=0;MQRankSum=-0.669;QD=11.92;ReadPosRankSum=-0.71;SNPEFF_AMINO_ACID_CHANGE=G97;SNPEFF_CODON_CHANGE=ggC/ggG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_201981085_201981306;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ELF3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000446188 GT:AD:DP:GQ:PL 0/1:34,29:63:99:781,0,973
1 201981862 rs2819362 T C 1157.59 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.16;SNPEFF_AMINO_ACID_CHANGE=P189;SNPEFF_CODON_CHANGE=ccT/ccC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_201981768_201981887;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ELF3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000446188 GT:AD:DP:GQ:PL 1/1:0,36:36:96.30:1191,96,0
1 202092046 rs3795593 C T 549.32 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.62;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_1_202091986_202092721;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR37L1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367282 GT:AD:DP:GQ:PL 1/1:0,15:15:45.14:582,45,0
1 202092360 rs3795595 G A 1009.52 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.2;MQ0=0;QD=34.81;SNPEFF_AMINO_ACID_CHANGE=G90D;SNPEFF_CODON_CHANGE=gGc/gAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_202091986_202092721;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR37L1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367282 GT:AD:DP:GQ:PL 1/1:0,29:29:78.24:1043,78,0
1 202092415 rs3795596 A G 1275.60 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.03;FS=0.0;HRun=2;HaplotypeScore=0.9665;MQ=58.74;MQ0=0;QD=34.48;SNPEFF_AMINO_ACID_CHANGE=G108;SNPEFF_CODON_CHANGE=ggA/ggG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_202091986_202092721;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR37L1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367282 GT:AD:DP:GQ:PL 1/1:0,36:36:99:1309,102,0
1 202092580 rs7516762 T C 500.20 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.35;SNPEFF_AMINO_ACID_CHANGE=S163;SNPEFF_CODON_CHANGE=agT/agC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_202091986_202092721;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR37L1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367282 GT:AD:DP:GQ:PL 1/1:0,15:15:42.13:533,42,0
1 202096815 rs3820380 G A 993.09 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.47;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR37L1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367282 GT:AD:DP:GQ:PL 1/1:0,28:28:78.22:1026,78,0
1 202103802 rs4342901 G A 75.94 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=15.19;ReadPosRankSum=0.358;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARL8A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000486225 GT:AD:DP:GQ:PL 0/1:2,3:5:61.54:106,0,62
1 202107422 rs10531175 AACACAC A 363.65 PASS AB=0.65;AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DB;DP=13;FS=0.0;HRun=0;HaplotypeScore=89.5811;IndelType=D;MQ=42.92;MQ0=0;MQRankSum=-1.214;QD=27.97;ReadPosRankSum=0.546;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARL8A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272217 GT:AD:DP:GQ:PL 0/1:6,7:13:99:403,0,172
1 202113835 rs4989100 T G 75.42 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.537;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.537;QD=12.57;ReadPosRankSum=0.988;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPN7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000308986 GT:AD:DP:GQ:PL 0/1:3,3:6:97.15:105,0,97
1 202122783 rs11590076 C A 214.18 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.068;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.6548;MQ=58.33;MQ0=0;MQRankSum=1.524;QD=15.3;ReadPosRankSum=1.406;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPN7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000435759 GT:AD:DP:GQ:PL 0/1:7,7:14:99:244,0,239
1 202128768 rs59879043 C G 150.65 PASS AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=6;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=25.11;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPN7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000308986 GT:AD:DP:GQ:PL 0/1:1,5:6:8.63:180,0,9
1 202163063 rs2361431 T C 119.70 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.94;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_1_202163029_202163329;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LGR6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367278 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:152,12,0
1 202163364 rs2077598 C G 284.07 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.51;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LGR6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367278 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:317,24,0
1 202163516 rs1812761 C A 126.16 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.54;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LGR6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367278 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:159,12,0
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1 202197161 rs3795598 C T 610.94 PASS AB=0.432;AC=1;AF=0.50;AN=2;BaseQRankSum=0.924;DB;DP=44;Dels=0.0;FS=1.358;HRun=0;HaplotypeScore=0.5784;MQ=59.15;MQ0=0;MQRankSum=2.227;QD=13.88;ReadPosRankSum=-1.422;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LGR6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000255432 GT:AD:DP:GQ:PL 0/1:19,25:44:99:641,0,652
1 202266547 rs788827 C T 541.26 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=1.018;DB;DP=34;Dels=0.0;FS=6.698;HRun=0;HaplotypeScore=0.0;MQ=58.63;MQ0=0;MQRankSum=0.604;QD=15.92;ReadPosRankSum=1.328;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LGR6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000255432 GT:AD:DP:GQ:PL 0/1:16,18:34:99:571,0,501
1 202266607 rs788826 C T 704.35 PASS AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.656;DB;DP=57;Dels=0.0;FS=2.738;HRun=0;HaplotypeScore=0.0;MQ=59.19;MQ0=0;MQRankSum=-1.918;QD=12.36;ReadPosRankSum=-0.082;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LGR6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000255432 GT:AD:DP:GQ:PL 0/1:30,27:57:99:734,0,999
1 202274936 rs705762 T C 484.17 PASS AB=0.553;AC=1;AF=0.50;AN=2;BaseQRankSum=1.63;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=58.78;MQ0=0;MQRankSum=0.442;QD=12.74;ReadPosRankSum=-0.625;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LGR6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000423542 GT:AD:DP:GQ:PL 0/1:21,17:38:99:514,0,626
1 202276494 rs896551 C T 163.22 PASS AB=0.786;AC=1;AF=0.50;AN=2;BaseQRankSum=0.276;DB;DP=42;Dels=0.0;FS=1.529;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.981;QD=3.89;ReadPosRankSum=-1.655;SNPEFF_AMINO_ACID_CHANGE=P276;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_202276458_202276529;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LGR6;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000439764 GT:AD:DP:GQ:PL 0/1:33,9:42:99:193,0,949
1 202287206 rs788795 T C 816.82 PASS AB=0.45;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.157;DB;DP=60;Dels=0.0;FS=1.045;HRun=5;HaplotypeScore=0.8941;MQ=59.3;MQ0=0;MQRankSum=-0.173;QD=13.61;ReadPosRankSum=1.68;SNPEFF_AMINO_ACID_CHANGE=V453A;SNPEFF_CODON_CHANGE=gTc/gCc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_202287080_202288335;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LGR6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000439764 GT:AD:DP:GQ:PL 0/1:27,33:60:99:847,0,672
1 202287537 rs788794 G A 32.75 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.358;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.04;MQ0=0;MQRankSum=1.231;QD=5.46;ReadPosRankSum=1.231;SNPEFF_AMINO_ACID_CHANGE=A563;SNPEFF_CODON_CHANGE=gcG/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_202287080_202288335;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LGR6;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000439764 GT:AD:DP:GQ:PL 0/1:4,2:6:62.74:63,0,69
1 202287813 rs788793 T C 821.99 PASS AB=0.54;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.048;DB;DP=64;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.18;MQ0=0;MQRankSum=-0.31;QD=12.84;ReadPosRankSum=0.365;SNPEFF_AMINO_ACID_CHANGE=F655;SNPEFF_CODON_CHANGE=ttT/ttC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_202287080_202288335;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LGR6;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000439764 GT:AD:DP:GQ:PL 0/1:34,29:64:99:852,0,1084
1 202304868 rs14451 T C 570.38 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.641;DB;DP=35;Dels=0.0;FS=5.641;HRun=0;HaplotypeScore=0.0;MQ=59.34;MQ0=0;MQRankSum=0.601;QD=16.3;ReadPosRankSum=1.038;SNPEFF_AMINO_ACID_CHANGE=S5;SNPEFF_CODON_CHANGE=tcA/tcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_202304774_202304946;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBE2T;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367274 GT:AD:DP:GQ:PL 0/1:14,21:35:99:600,0,431
1 202318316 rs930734 A C 100.25 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.693;DB;DP=21;Dels=0.0;FS=5.935;HRun=0;HaplotypeScore=0.0;MQ=57.77;MQ0=0;MQRankSum=0.037;QD=4.77;ReadPosRankSum=-1.604;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPP1R12B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336894 GT:AD:DP:GQ:PL 0/1:14,7:21:99:130,0,440
1 202386075 rs2843413 T C 2027.59 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.21;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPP1R12B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336894 GT:AD:DP:GQ:PL 1/1:0,56:56:99:2061,150,0
1 202440936 rs2362282 T A 147.06 PASS AB=0.722;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.274;DB;DP=36;Dels=0.0;FS=2.028;HRun=1;HaplotypeScore=2.2013;MQ=48.55;MQ0=1;MQRankSum=0.055;QD=4.09;ReadPosRankSum=-0.676;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPP1R12B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336894 GT:AD:DP:GQ:PL 0/1:26,10:36:99:177,0,657
1 202457784 rs3820374 T A 106.14 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.244;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=0.135;QD=8.84;ReadPosRankSum=-1.635;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPP1R12B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336894 GT:AD:DP:GQ:PL 0/1:7,5:12:99:136,0,224
1 202464280 rs12405771 G A 39.24 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=51.77;MQ0=0;QD=13.08;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPP1R12B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336894 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:70,6,0
1 202531646 rs705750 T G 338.80 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.986;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=59.31;MQ0=0;MQRankSum=-0.18;QD=12.55;ReadPosRankSum=-0.437;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPP1R12B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336894 GT:AD:DP:GQ:PL 0/1:12,14:27:99:369,0,414
1 202531741 rs2249811 C T 806.57 PASS AB=0.592;AC=1;AF=0.50;AN=2;BaseQRankSum=1.318;DB;DP=76;Dels=0.0;FS=8.281;HRun=1;HaplotypeScore=0.8667;MQ=59.75;MQ0=0;MQRankSum=-0.447;QD=10.61;ReadPosRankSum=1.824;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPP1R12B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336894 GT:AD:DP:GQ:PL 0/1:45,31:76:99:837,0,1384
1 202536848 rs2292489 C T 52.76 PASS AB=0.789;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.45;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.75;QD=2.78;ReadPosRankSum=0.15;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPP1R12B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466273 GT:AD:DP:GQ:PL 0/1:15,4:19:82.76:83,0,518
1 202566200 rs9633344 T C 37.15 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.57;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SYT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367267 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:68,6,0
1 202572105 rs68164776 GCC G 2443.35 PASS AC=2;AF=1.00;AN=2;DB;DP=65;FS=0.0;HRun=7;HaplotypeScore=233.7224;IndelType=D;MQ=58.34;MQ0=0;QD=37.59;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SYT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367267 GT:AD:DP:GQ:PL 1/1:0,65:65:99:2485,196,0
1 202574784 rs1968583 G A 1340.59 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.7;SNPEFF_AMINO_ACID_CHANGE=S39;SNPEFF_CODON_CHANGE=agC/agT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_202574723_202574917;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SYT2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367267 GT:AD:DP:GQ:PL 1/1:0,41:41:99:1374,108,0
1 202702353 rs4950791 T C 47.79 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.89;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KDM5B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000235790 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
1 202703053 rs4310498 G A 2227.91 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.8004;MQ=59.71;MQ0=0;QD=34.81;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KDM5B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000235790 GT:AD:DP:GQ:PL 1/1:1,63:64:99:2261,166,0
1 202704860 rs4325196 G A 274.52 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KDM5B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000235790 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:307,24,0
1 202705455 rs1141109 G C 751 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.81;SNPEFF_AMINO_ACID_CHANGE=P1050;SNPEFF_CODON_CHANGE=ccC/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_202705341_202705520;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KDM5B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367265 GT:AD:DP:GQ:PL 1/1:0,27:27:66.15:784,66,0
1 202709624 rs71524469 G A 103.06 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=30.9;MQ0=0;QD=25.77;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KDM5B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000235790 GT:AD:DP:GQ:PL 1/1:0,4:4:12.03:136,12,0
1 202711350 rs6658451 T C 291.65 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.41;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KDM5B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000498276 GT:AD:DP:GQ:PL 1/1:0,9:9:27.06:325,27,0
1 202715244 rs5780122 G GA 886.39 PASS AC=2;AF=1.00;AN=2;DB;DP=28;FS=0.0;HRun=8;HaplotypeScore=145.0488;IndelType=I;MQ=60.34;MQ0=0;QD=31.66;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KDM5B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000235790 GT:AD:DP:GQ:PL 1/1:1,26:28:81.24:928,81,0
1 202715284 rs1141108 G A 1231.42 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.03;FS=0.0;HRun=0;HaplotypeScore=8.898;MQ=59.96;MQ0=0;QD=34.21;SNPEFF_AMINO_ACID_CHANGE=Y570;SNPEFF_CODON_CHANGE=taC/taT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_202715270_202715451;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KDM5B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000235790 GT:AD:DP:GQ:PL 1/1:0,34:35:96.29:1264,96,0
1 202718028 rs1892163 A G 1176.08 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9997;MQ=59.36;MQ0=0;QD=32.67;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KDM5B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456180 GT:AD:DP:GQ:PL 1/1:0,36:36:90.29:1209,90,0
1 202718202 rs1892164 G A 2372.43 PASS AC=2;AF=1.00;AN=2;DB;DP=69;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9967;MQ=60.0;MQ0=0;QD=34.38;SNPEFF_AMINO_ACID_CHANGE=H471;SNPEFF_CODON_CHANGE=caC/caT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_202718073_202718267;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KDM5B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000235790 GT:AD:DP:GQ:PL 1/1:0,69:69:99:2405,178,0
1 202722277 rs4950742 G A 823.66 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.95;MQ0=0;QD=37.44;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KDM5B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000235790 GT:AD:DP:GQ:PL 1/1:0,22:22:63.21:857,63,0
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1 202743892 rs17497253 T C 402.18 PASS AB=0.559;AC=1;AF=0.50;AN=2;BaseQRankSum=0.798;DB;DP=34;Dels=0.0;FS=1.725;HRun=1;HaplotypeScore=0.8941;MQ=59.32;MQ0=0;MQRankSum=0.208;QD=11.83;ReadPosRankSum=0.277;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KDM5B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000235790 GT:AD:DP:GQ:PL 0/1:19,15:34:99:432,0,568
1 202861463 rs35443455 TCTG T 237.60 PASS AC=2;AF=1.00;AN=2;DB;DP=5;FS=0.0;HRun=0;HaplotypeScore=21.1077;IndelType=D;MQ=57.52;MQ0=0;QD=47.52;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KLHL12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000435533 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:279,15,0
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1 202878454 rs1539357 T A 160.74 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.79;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KLHL12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367258 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:193,15,0
1 202878492 rs3820152 T A 91.60 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.53;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KLHL12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367258 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:124,9,0
1 202887295 rs2275734 G A 2215.56 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9992;MQ=59.65;MQ0=0;QD=33.57;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KLHL12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367258 GT:AD:DP:GQ:PL 1/1:0,66:66:99:2249,166,0
1 202889207 rs7520522 T C 39.64 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=13.21;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KLHL12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367258 GT:AD:DP:GQ:PL 1/1:0,3:3:6.01:71,6,0
1 202893919 rs6667300 C T 528.16 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.73;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KLHL12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367258 GT:AD:DP:GQ:PL 1/1:0,14:14:42.14:561,42,0
1 202894165 . T G 1491.82 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.777;DP=104;Dels=0.0;FS=4.984;HRun=0;HaplotypeScore=1.9301;MQ=59.33;MQ0=0;MQRankSum=-0.131;QD=14.34;ReadPosRankSum=0.788;SNPEFF_AMINO_ACID_CHANGE=K42N;SNPEFF_CODON_CHANGE=aaA/aaC;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_202894096_202894335;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KLHL12;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367261 GT:AD:DP:GQ:PL 0/1:49,55:104:99:1522,0,1472
1 202914356 rs1342387 T C 160.25 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.532;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.186;QD=14.57;ReadPosRankSum=-2.637;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADIPOR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340990 GT:AD:DP:GQ:PL 0/1:5,6:11:99:190,0,164
1 202920300 rs2275737 A C 49.58 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=2.219;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.185;QD=4.13;ReadPosRankSum=1.109;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADIPOR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340990 GT:AD:DP:GQ:PL 0/1:9,3:12:79.57:80,0,332
1 202920304 rs2275738 T C 50.91 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.37;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.479;QD=4.24;ReadPosRankSum=1.109;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADIPOR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340990 GT:AD:DP:GQ:PL 0/1:9,3:12:80.90:81,0,311
1 202931839 rs2232854 G A 419.58 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.716;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.07;MQ0=0;MQRankSum=1.729;QD=16.78;ReadPosRankSum=-1.67;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYB5R1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473599 GT:AD:DP:GQ:PL 0/1:10,15:25:99:450,0,300
1 202931958 rs2232853 G A 452.26 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.281;DB;DP=30;Dels=0.0;FS=7.732;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.493;QD=15.08;ReadPosRankSum=-0.498;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYB5R1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473599 GT:AD:DP:GQ:PL 0/1:15,15:30:99:482,0,458
1 202931998 rs2232852 C A 651.47 PASS AB=0.371;AC=1;AF=0.50;AN=2;BaseQRankSum=0.631;DB;DP=35;Dels=0.0;FS=5.666;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-2.252;QD=18.61;ReadPosRankSum=0.667;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYB5R1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473599 GT:AD:DP:GQ:PL 0/1:13,22:35:99:681,0,289
1 202933657 rs2232847 T A 138.90 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.361;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.206;QD=6.95;ReadPosRankSum=1.031;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYB5R1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473599 GT:AD:DP:GQ:PL 0/1:14,6:20:99:169,0,441
1 202977665 rs3834027 G GT 477.42 PASS AC=2;AF=1.00;AN=2;DB;DP=16;FS=0.0;HRun=8;HaplotypeScore=34.8058;IndelType=I;MQ=58.55;MQ0=0;QD=29.84;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM183A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367242 GT:AD:DP:GQ:PL 1/1:1,15:16:45.13:519,45,0
1 202978032 rs1418444 C G 460.84 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.4;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM183A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367242 GT:AD:DP:GQ:PL 1/1:0,12:12:36.12:494,36,0
1 202987770 rs782788 T C 687.89 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.2;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM183A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463015 GT:AD:DP:GQ:PL 1/1:0,19:19:54.17:721,54,0
1 202987796 rs782787 G A 358.79 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.62;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM183A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463015 GT:AD:DP:GQ:PL 1/1:0,11:11:30.08:392,30,0
1 202990110 rs71142585 CTTT C 381.09 PASS AC=2;AF=1.00;AN=2;DB;DP=34;FS=0.0;HRun=17;HaplotypeScore=227.5038;IndelType=D;MQ=48.57;MQ0=0;QD=11.21;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM183A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468449 GT:AD:DP:GQ:PL 1/1:18,15:34:43.34:423,43,0
1 202991745 rs12727457 C T 87.98 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=37.0;MQ0=0;QD=29.33;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM183A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468449 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:120,9,0
1 203008174 rs61821060 G C 398.37 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.2;SNPEFF_AMINO_ACID_CHANGE=R13P;SNPEFF_CODON_CHANGE=cGc/cCc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_203007738_203008370;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPFIA4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367240 GT:AD:DP:GQ:PL 1/1:0,12:12:33.11:431,33,0
1 203026203 rs903362 T G 323.15 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPFIA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272198 GT:AD:DP:GQ:PL 1/1:0,9:9:27.08:356,27,0
1 203040673 rs9803710 A G 229.45 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.78;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPFIA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272198 GT:AD:DP:GQ:PL 1/1:0,7:7:21.06:262,21,0
1 203053768 rs903356 T C 152.57 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.51;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYOG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000241651 GT:AD:DP:GQ:PL 1/1:0,5:5:15.04:185,15,0
1 203055101 rs4950877 A G 248.50 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.515;DB;DP=18;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9469;MQ=60.0;MQ0=0;MQRankSum=0.14;QD=13.81;ReadPosRankSum=-0.421;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADORA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309502 GT:AD:DP:GQ:PL 0/1:6,12:18:99:278,0,170
1 203098275 rs10920568 T G 1200.23 PASS AB=0.531;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.303;DB;DP=98;Dels=0.0;FS=2.864;HRun=1;HaplotypeScore=1.4972;MQ=59.77;MQ0=0;MQRankSum=-0.893;QD=12.12;ReadPosRankSum=-0.63;SNPEFF_AMINO_ACID_CHANGE=A102;SNPEFF_CODON_CHANGE=gcT/gcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_203097913_203098310;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADORA1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000309502 GT:AD:DP:GQ:PL 0/1:52,46:98:99:1230,0,1505
1 203144198 rs2791720 T C 36.25 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=6;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=1.933;MQ=56.04;MQ0=0;MQRankSum=0.358;QD=6.04;ReadPosRankSum=-0.358;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHI3L1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000255409 GT:AD:DP:GQ:PL 0/1:3,3:6:66.24:66,0,102
1 203148633 rs4950927 A G 765.99 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.8533;MQ=60.0;MQ0=0;QD=33.3;SNPEFF_AMINO_ACID_CHANGE=C364;SNPEFF_CODON_CHANGE=tgT/tgC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_203148059_203148713;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHI3L1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000255409 GT:AD:DP:GQ:PL 1/1:0,23:23:60.19:799,60,0
1 203152801 rs880633 T C 589.95 PASS AB=0.458;AC=1;AF=0.50;AN=2;BaseQRankSum=0.765;DB;DP=48;Dels=0.0;FS=2.649;HRun=2;HaplotypeScore=1.7886;MQ=59.52;MQ0=0;MQRankSum=-0.445;QD=12.29;ReadPosRankSum=0.514;SNPEFF_AMINO_ACID_CHANGE=R145G;SNPEFF_CODON_CHANGE=Aga/Gga;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_203152769_203152919;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHI3L1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000255409 GT:AD:DP:GQ:PL 0/1:22,26:48:99:620,0,518
1 203153555 rs12128727 C T 312.46 PASS AB=0.412;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.001;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.049;QD=18.38;ReadPosRankSum=-1.122;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHI3L1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000255409 GT:AD:DP:GQ:PL 0/1:7,10:17:99:342,0,243
1 203153634 rs2071579 C G 608.50 PASS AB=0.405;AC=1;AF=0.50;AN=2;BaseQRankSum=1.119;DB;DP=42;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.382;QD=14.49;ReadPosRankSum=-1.742;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHI3L1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000255409 GT:AD:DP:GQ:PL 0/1:17,25:42:99:638,0,529
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1 203189093 rs76499133 C T 93.72 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.24;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CHIT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000513472 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:126,9,0
1 203192137 rs3820145 T C 916.16 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=3.189;DB;DP=48;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=59.61;MQ0=0;MQRankSum=0.868;QD=19.09;ReadPosRankSum=-1.558;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CHIT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000513472 GT:AD:DP:GQ:PL 0/1:20,28:48:99:946,0,584
1 203192567 rs2297949 G T 217.13 PASS AB=0.381;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.61;DB;DP=21;Dels=0.0;FS=2.162;HRun=0;HaplotypeScore=0.0;MQ=58.89;MQ0=0;MQRankSum=0.784;QD=10.34;ReadPosRankSum=-1.032;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CHIT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000513472 GT:AD:DP:GQ:PL 0/1:8,13:21:99:247,0,253
1 203192820 rs10920586 C T 532.23 PASS AB=0.564;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.014;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=57.59;MQ0=0;MQRankSum=-0.524;QD=13.65;ReadPosRankSum=0.552;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CHIT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000255427 GT:AD:DP:GQ:PL 0/1:22,17:39:99:562,0,685
1 203194186 rs2297950 C T 484.10 PASS AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=0.539;DB;DP=38;Dels=0.0;FS=1.315;HRun=0;HaplotypeScore=0.0;MQ=59.51;MQ0=0;MQRankSum=0.602;QD=12.74;ReadPosRankSum=-0.095;SNPEFF_AMINO_ACID_CHANGE=G102S;SNPEFF_CODON_CHANGE=Ggc/Agc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_203194176_203194232;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CHIT1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367229 GT:AD:DP:GQ:PL 0/1:20,18:38:99:514,0,541
1 203317162 rs7543148 C T 444.69 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.06;SNPEFF_AMINO_ACID_CHANGE=S60N;SNPEFF_CODON_CHANGE=aGt/aAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_203317140_203317340;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FMOD;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000539467 GT:AD:DP:GQ:PL 1/1:0,12:12:36.11:478,36,0
1 203453502 rs2794444 C T 51.64 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.82;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRELP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343110 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:83,6,0
1 203473044 rs754754 T C 103.45 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=-0.731;QD=20.69;ReadPosRankSum=0.731;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OPTC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000448911 GT:AD:DP:GQ:PL 0/1:1,4:5:26.71:133,0,27
1 203652444 rs1419114 A G 3055.78 PASS AC=2;AF=1.00;AN=2;DB;DP=93;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.8;MQ0=0;QD=32.86;SNPEFF_AMINO_ACID_CHANGE=S37;SNPEFF_CODON_CHANGE=tcA/tcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_203651937_203652526;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP2B4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000341360 GT:AD:DP:GQ:PL 1/1:0,93:93:99:3089,238,0
1 203652683 rs4951369 C G 44.31 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.16;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP2B4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341360 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:76,6,0
1 203652698 rs4951070 T C 40.09 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=13.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP2B4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341360 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:71,6,0
1 203667409 rs2228445 T C 1902.84 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.5592;MQ=59.68;MQ0=0;QD=32.81;SNPEFF_AMINO_ACID_CHANGE=L106;SNPEFF_CODON_CHANGE=ctT/ctC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_203667285_203667482;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP2B4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000341360 GT:AD:DP:GQ:PL 1/1:0,57:58:99:1936,144,0
1 203667577 rs139986068 TA T 498.25 PASS AC=2;AF=1.00;AN=2;DB;DP=15;FS=0.0;HRun=4;HaplotypeScore=51.6847;IndelType=D;MQ=60.0;MQ0=0;QD=33.22;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP2B4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341360 GT:AD:DP:GQ:PL 1/1:0,15:15:45.14:540,45,0
1 203677250 rs3753036 G A 2687.43 PASS AC=2;AF=1.00;AN=2;DB;DP=82;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.8136;MQ=59.72;MQ0=0;QD=32.77;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP2B4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341360 GT:AD:DP:GQ:PL 1/1:0,82:82:99:2720,199,0
1 203679934 rs2032018 A G 297.57 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.2;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP2B4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341360 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:331,24,0
1 203689936 rs4951112 C G 418.99 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.92;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP2B4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341360 GT:AD:DP:GQ:PL 1/1:0,12:12:33.11:452,33,0
1 203698627 rs2365862 C T 128.65 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.16;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP2B4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466407 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:161,12,0
1 203709034 rs955865 A G 344.80 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.328;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.983;QD=19.16;ReadPosRankSum=0.047;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP2B4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341360 GT:AD:DP:GQ:PL 0/1:6,12:18:99:375,0,166
1 203709068 rs955866 T C 205.23 PASS AB=0.385;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.927;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.437;QD=15.79;ReadPosRankSum=-0.817;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP2B4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341360 GT:AD:DP:GQ:PL 0/1:5,8:13:99:235,0,170
1 203742915 rs6697274 G A 97.64 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=44.1;MQ0=0;QD=19.53;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAX1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367217 GT:AD:DP:GQ:PL 1/1:0,5:5:12.02:130,12,0
1 203743122 rs3820194 G A 2407.55 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.63;DB;DP=68;Dels=0.0;FS=3.411;HRun=0;HaplotypeScore=0.0;MQ=59.66;MQ0=0;MQRankSum=1.63;QD=35.41;ReadPosRankSum=0.917;SNPEFF_AMINO_ACID_CHANGE=S154;SNPEFF_CODON_CHANGE=tcG/tcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_203743003_203743850;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAX1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367217 GT:AD:DP:GQ:PL 1/1:1,67:68:99:2441,144,0
1 203743653 rs3766748 C T 1895.78 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.9159;MQ=59.62;MQ0=0;QD=31.08;SNPEFF_AMINO_ACID_CHANGE=D331;SNPEFF_CODON_CHANGE=gaC/gaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_203743003_203743850;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAX1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367217 GT:AD:DP:GQ:PL 1/1:0,61:61:99:1929,147,0
1 203743798 rs41264261 C T 309.15 PASS AB=0.478;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.81;DB;DP=23;Dels=0.0;FS=1.808;HRun=2;HaplotypeScore=0.0;MQ=59.19;MQ0=0;MQRankSum=0.317;QD=13.44;ReadPosRankSum=1.866;SNPEFF_AMINO_ACID_CHANGE=P380S;SNPEFF_CODON_CHANGE=Cct/Tct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_203743003_203743850;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAX1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367217 GT:AD:DP:GQ:PL 0/1:11,12:23:99:339,0,267
1 203786152 rs7555435 A C 506.16 MQFilter40 AB=0.523;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.604;DB;DP=44;Dels=0.0;FS=9.42;HRun=1;HaplotypeScore=0.9734;MQ=30.93;MQ0=8;MQRankSum=1.087;QD=11.5;ReadPosRankSum=-0.155;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ZC3H11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000537080 GT:AD:DP:GQ:PL 0/1:23,21:44:99:536,0,361
1 203787542 rs35988171 C T 78.41 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=19.6;ReadPosRankSum=-0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ZC3H11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000332127 GT:AD:DP:GQ:PL 0/1:1,3:4:30.97:108,0,31
1 203787700 rs4951260 T C 1084.88 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9159;MQ=59.3;MQ0=0;QD=32.88;SNPEFF_AMINO_ACID_CHANGE=G19;SNPEFF_CODON_CHANGE=ggT/ggC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_203787698_203787817;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ZC3H11A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000332127 GT:AD:DP:GQ:PL 1/1:0,33:33:84.27:1118,84,0
1 203797335 rs35073773 A G 32.60 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.82;MQ0=0;MQRankSum=-1.38;QD=5.43;ReadPosRankSum=-1.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ZC3H11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000332127 GT:AD:DP:GQ:PL 0/1:4,2:6:62.59:63,0,147
1 203797384 rs36111209 A G 126.95 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.12;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.83;MQ0=0;MQRankSum=-0.53;QD=7.93;ReadPosRankSum=-0.295;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ZC3H11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000332127 GT:AD:DP:GQ:PL 0/1:10,6:16:99:157,0,324
1 203799343 rs12239438 C T 1752.23 PASS AB=0.57;AC=1;AF=0.50;AN=2;BaseQRankSum=4.532;DB;DP=135;Dels=0.0;FS=1.385;HRun=0;HaplotypeScore=0.0;MQ=59.66;MQ0=0;MQRankSum=-0.671;QD=12.98;ReadPosRankSum=1.395;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ZC3H11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000480354 GT:AD:DP:GQ:PL 0/1:77,58:135:99:1782,0,2172
1 203800715 rs2275324 A G 76.89 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.82;MQ0=0;MQRankSum=0.358;QD=15.38;ReadPosRankSum=-1.231;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ZC3H11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000480354 GT:AD:DP:GQ:PL 0/1:2,3:5:70.19:107,0,70
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1 204124865 rs2368564 C T 251.69 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.46;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=REN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272190 GT:AD:DP:GQ:PL 1/1:0,8:8:21.07:285,21,0
1 204125272 rs3795574 C A 6040.72 PASS AC=2;AF=1.00;AN=2;DB;DP=193;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.1451;MQ=58.75;MQ0=0;QD=31.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=REN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272190 GT:AD:DP:GQ:PL 1/1:0,192:193:99:6041,469,0
1 204125464 rs3839003 T TCAGACAGA 2009.08 PASS AC=2;AF=1.00;AN=2;DB;DP=38;FS=0.0;HRun=0;HaplotypeScore=259.7674;IndelType=I;MQ=50.88;MQ0=0;QD=52.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=REN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272190 GT:AD:DP:GQ:PL 1/1:18,16:38:63.21:2051,63,0
1 204125509 rs11571088 T G 409.14 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=46.41;MQ0=0;QD=29.22;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=REN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272190 GT:AD:DP:GQ:PL 1/1:0,14:14:36.11:442,36,0
1 204128854 rs1464816 T G 49.99 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=16.66;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=REN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272190 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:81,6,0
1 204130376 rs2272237 G C 62.89 PASS AB=0.692;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.62;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.62;QD=4.84;ReadPosRankSum=-1.312;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=REN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272190 GT:AD:DP:GQ:PL 0/1:9,4:13:92.89:93,0,290
1 204379617 rs3014626 T C 3311.43 PASS AC=2;AF=1.00;AN=2;DB;DP=108;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7882;MQ=59.79;MQ0=0;QD=30.66;SNPEFF_AMINO_ACID_CHANGE=N218S;SNPEFF_CODON_CHANGE=aAc/aGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_204378620_204380332;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPP1R15B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000543650 GT:AD:DP:GQ:PL 1/1:0,108:108:99:3311,253,0
1 204409281 rs3014631 C G 971.90 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.17;MQ0=0;QD=34.71;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIK3C2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367187 GT:AD:DP:GQ:PL 1/1:0,28:28:78.23:1005,78,0
1 204410447 rs2999496 A G 41.81 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.9;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIK3C2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367187 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:73,6,0
1 204413297 rs2292459 C T 627.28 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=57.99;MQ0=0;QD=29.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIK3C2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367187 GT:AD:DP:GQ:PL 1/1:0,21:21:54.14:660,54,0
1 204413299 rs2292460 G A 550.94 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.78;MQ0=0;QD=29.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIK3C2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367187 GT:AD:DP:GQ:PL 1/1:0,18:19:45.15:584,45,0
1 204418889 rs2999492 C T 416.89 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=54.44;MQ0=0;QD=32.07;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIK3C2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000438854 GT:AD:DP:GQ:PL 1/1:0,13:13:36.10:450,36,0
1 204418939 rs3014637 C T 650.05 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=50.49;MQ0=0;QD=30.95;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIK3C2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000438854 GT:AD:DP:GQ:PL 1/1:0,21:21:57.17:683,57,0
1 204429838 rs2271414 C G 514.79 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.55;MQ0=0;QD=32.17;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIK3C2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367184 GT:AD:DP:GQ:PL 1/1:0,16:16:42.14:548,42,0
1 204433093 rs2271415 A C 1734.62 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.01;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIK3C2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367184 GT:AD:DP:GQ:PL 1/1:0,50:51:99:1768,129,0
1 204433511 rs61761695 T TC 1143.78 PASS AC=2;AF=1.00;AN=2;DB;DP=29;FS=0.0;HRun=1;HaplotypeScore=61.6728;IndelType=I;MQ=60.7;MQ0=0;QD=39.44;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIK3C2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367184 GT:AD:DP:GQ:PL 1/1:2,27:29:81.27:1186,81,0
1 204434277 rs2942149 T C 1314.91 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.0;MQ0=0;QD=31.31;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIK3C2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000415899 GT:AD:DP:GQ:PL 1/1:0,42:42:99:1348,102,0
1 204438334 rs1124777 C T 5396.83 PASS AC=2;AF=1.00;AN=2;DB;DP=151;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.74;SNPEFF_AMINO_ACID_CHANGE=P199;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_204437998_204439014;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIK3C2B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367187 GT:AD:DP:GQ:PL 1/1:0,151:151:99:5397,400,0
1 204438643 rs1553921 G T 1070.51 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.4;MQ0=0;QD=34.53;SNPEFF_AMINO_ACID_CHANGE=L96;SNPEFF_CODON_CHANGE=ctC/ctA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_204437998_204439014;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIK3C2B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367187 GT:AD:DP:GQ:PL 1/1:0,31:31:84.26:1104,84,0
1 204495595 rs72381997 G GT 103.14 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.382;DB;DP=14;FS=0.0;HRun=14;HaplotypeScore=90.9153;IndelType=I;MQ=56.03;MQ0=0;MQRankSum=1.377;QD=7.37;ReadPosRankSum=-0.566;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MDM4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367180 GT:AD:DP:GQ:PL 0/1:6,6:14:3.95:141,0,4
1 204505976 rs35493922 GA G 1181.11 PASS AC=2;AF=1.00;AN=2;DB;DP=41;FS=0.0;HRun=7;HaplotypeScore=99.5515;IndelType=D;MQ=61.05;MQ0=0;QD=28.81;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MDM4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470797 GT:AD:DP:GQ:PL 1/1:1,40:41:99:1223,120,0
1 204506107 rs4245738 C T 1696.54 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.34;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MDM4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470797 GT:AD:DP:GQ:PL 1/1:0,48:48:99:1730,129,0
1 204512100 rs4252717 T C 978.26 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.17;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MDM4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462012 GT:AD:DP:GQ:PL 1/1:0,36:36:81.25:1011,81,0
1 204512195 rs4252718 A T 174.47 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.08;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MDM4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462012 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:207,15,0
1 204515863 rs2290855 C T 285.41 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.71;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MDM4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462012 GT:AD:DP:GQ:PL 1/1:0,9:9:24.08:318,24,0
1 204516025 rs2290854 A G 776.41 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.99;MQ0=0;QD=33.76;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MDM4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462012 GT:AD:DP:GQ:PL 1/1:0,23:23:60.20:809,60,0
1 204518842 rs4245739 C A 1088.41 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.01;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MDM4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367179 GT:AD:DP:GQ:PL 1/1:0,34:34:84.24:1121,84,0
1 204586805 rs3789046 G A 338.23 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.58;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000496057 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:371,27,0
1 204587240 rs3747632 G A 498.11 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.45;MQ0=0;QD=33.21;SNPEFF_AMINO_ACID_CHANGE=D627;SNPEFF_CODON_CHANGE=gaC/gaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_204586298_204591333;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRN2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367175 GT:AD:DP:GQ:PL 1/1:0,15:15:42.11:531,42,0
1 204915904 rs2449484 A G 405.39 PASS AB=0.568;AC=1;AF=0.50;AN=2;BaseQRankSum=2.136;DB;DP=37;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9469;MQ=59.38;MQ0=0;MQRankSum=0.348;QD=10.96;ReadPosRankSum=-0.05;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NFASC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000493914 GT:AD:DP:GQ:PL 0/1:21,16:37:99:435,0,590
1 204915920 rs2490418 T C 339.75 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.938;DB;DP=30;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.724;QD=11.32;ReadPosRankSum=0.502;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NFASC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000493914 GT:AD:DP:GQ:PL 0/1:16,14:30:99:370,0,477
1 204915939 rs10157992 T C 390.59 PASS AB=0.517;AC=1;AF=0.50;AN=2;BaseQRankSum=0.109;DB;DP=29;Dels=0.0;FS=1.664;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.502;QD=13.47;ReadPosRankSum=0.24;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NFASC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000493914 GT:AD:DP:GQ:PL 0/1:15,14:29:99:421,0,484
1 204917680 rs2068667 C T 673.50 PASS AB=0.527;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.898;DB;DP=55;Dels=0.0;FS=10.08;HRun=1;HaplotypeScore=0.9947;MQ=59.24;MQ0=0;MQRankSum=1.452;QD=12.25;ReadPosRankSum=-0.829;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NFASC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000493914 GT:AD:DP:GQ:PL 0/1:29,26:55:99:703,0,981
1 204921312 rs113463555 C T 38.48 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.231;QD=7.7;ReadPosRankSum=0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NFASC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295776 GT:AD:DP:GQ:PL 0/1:3,2:5:68.47:68,0,102
1 204926980 rs7519658 C T 490.23 PASS AB=0.655;AC=1;AF=0.50;AN=2;BaseQRankSum=0.293;DB;DP=58;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.6634;MQ=59.6;MQ0=0;MQRankSum=-0.092;QD=8.45;ReadPosRankSum=-1.463;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NFASC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000505079 GT:AD:DP:GQ:PL 0/1:38,20:58:99:520,0,1163
1 204931077 rs12740109 G A 276.78 PASS AB=0.686;AC=1;AF=0.50;AN=2;BaseQRankSum=3.216;DB;DP=35;Dels=0.0;FS=2.707;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.693;QD=7.91;ReadPosRankSum=-0.018;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NFASC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295776 GT:AD:DP:GQ:PL 0/1:24,11:35:99:307,0,731
1 204943285 rs2595945 A T 182.95 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=56.04;MQ0=0;QD=30.49;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NFASC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295776 GT:AD:DP:GQ:PL 1/1:0,6:6:18.04:216,18,0
1 204943362 rs147248519 C T 326.07 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.642;DB;DP=22;Dels=0.0;FS=1.971;HRun=0;HaplotypeScore=0.0;MQ=58.95;MQ0=0;MQRankSum=-0.197;QD=14.82;ReadPosRankSum=0.854;SNPEFF_AMINO_ACID_CHANGE=Y432;SNPEFF_CODON_CHANGE=taC/taT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_204943307_204943418;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NFASC;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000430393 GT:AD:DP:GQ:PL 0/1:11,11:22:99:356,0,289
1 204943947 rs2246662 C A 539.86 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=0.969;DB;DP=56;Dels=0.0;FS=2.795;HRun=3;HaplotypeScore=0.0;MQ=59.17;MQ0=0;MQRankSum=1.681;QD=9.64;ReadPosRankSum=-0.224;SNPEFF_AMINO_ACID_CHANGE=V505;SNPEFF_CODON_CHANGE=gtC/gtA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_204943785_204943951;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NFASC;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000430393 GT:AD:DP:GQ:PL 0/1:32,24:56:99:570,0,1035
1 204943991 rs2246661 C T 106.52 PASS AB=0.719;AC=1;AF=0.50;AN=2;BaseQRankSum=3.018;DB;DP=32;Dels=0.0;FS=2.696;HRun=0;HaplotypeScore=0.0;MQ=59.28;MQ0=0;MQRankSum=0.084;QD=3.33;ReadPosRankSum=-0.377;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NFASC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000514644 GT:AD:DP:GQ:PL 0/1:23,9:32:99:137,0,686
1 204943992 rs2794861 A G 1076.54 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.28;MQ0=0;QD=33.64;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NFASC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000514644 GT:AD:DP:GQ:PL 1/1:0,32:32:90.22:1110,90,0
1 204945618 rs12124296 G A 547.94 PASS AB=0.472;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.127;DB;DP=36;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9159;MQ=60.0;MQ0=0;MQRankSum=2.313;QD=15.22;ReadPosRankSum=0.57;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NFASC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000514644 GT:AD:DP:GQ:PL 0/1:17,19:36:99:578,0,539
1 204948793 . C A 227.75 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.511;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.776;QD=11.39;ReadPosRankSum=-1.429;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NFASC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000403080 GT:AD:DP:GQ:PL 0/1:10,10:20:99:258,0,345
1 204955319 rs11240324 G A 52.28 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=51.77;MQ0=0;QD=17.43;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NFASC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471392 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:84,6,0
1 204962718 rs2841628 A G 76.18 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=15.24;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NFASC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468328 GT:AD:DP:GQ:PL 1/1:0,5:5:9.03:108,9,0
1 204966170 rs16854920 T C 258.60 PASS AB=0.474;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.041;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.78;MQ0=0;MQRankSum=-1.755;QD=13.61;ReadPosRankSum=0.694;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NFASC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295776 GT:AD:DP:GQ:PL 0/1:9,10:19:99:289,0,315
1 204966428 rs2802808 C G 1161.44 PASS AB=0.463;AC=1;AF=0.50;AN=2;BaseQRankSum=4.889;DB;DP=67;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=3.8327;MQ=59.31;MQ0=0;MQRankSum=-0.454;QD=17.33;ReadPosRankSum=0.809;SNPEFF_AMINO_ACID_CHANGE=I1063M;SNPEFF_CODON_CHANGE=atC/atG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_204966323_204966534;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NFASC;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367171 GT:AD:DP:GQ:PL 0/1:31,36:67:99:1191,0,658
1 204966690 rs2794858 G A 93.07 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.02;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NFASC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295776 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:125,9,0
1 204978533 rs1530745 A G 1437.67 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.144;DB;DP=48;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.5784;MQ=59.52;MQ0=0;MQRankSum=0.794;QD=29.95;ReadPosRankSum=0.722;SNPEFF_AMINO_ACID_CHANGE=A1045;SNPEFF_CODON_CHANGE=gcA/gcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_204978524_204978534;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NFASC;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000295776 GT:AD:DP:GQ:PL 1/1:1,47:48:86.39:1471,86,0
1 204978544 rs140979154 G T 492.51 PASS AB=0.635;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.322;DB;DP=52;Dels=0.0;FS=6.253;HRun=0;HaplotypeScore=0.5784;MQ=59.56;MQ0=0;MQRankSum=0.692;QD=9.47;ReadPosRankSum=-0.692;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NFASC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295776 GT:AD:DP:GQ:PL 0/1:33,19:52:99:523,0,1035
1 204978643 rs78993506 C A 756.85 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.896;DB;DP=60;Dels=0.0;FS=3.662;HRun=1;HaplotypeScore=2.65;MQ=59.62;MQ0=0;MQRankSum=1.874;QD=12.61;ReadPosRankSum=0.141;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NFASC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295776 GT:AD:DP:GQ:PL 0/1:32,28:60:99:787,0,1015
1 204985226 rs868449 A C 153.10 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.52;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NFASC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295776 GT:AD:DP:GQ:PL 1/1:0,6:6:15.04:186,15,0
1 205028581 rs2305278 C G 31.66 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=0.254;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=-0.761;QD=2.26;ReadPosRankSum=0.423;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNTN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000532366 GT:AD:DP:GQ:PL 0/1:10,4:14:61.65:62,0,368
1 205028883 rs35182846 CAG C 348.28 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=3.065;DB;DP=18;FS=0.0;HRun=0;HaplotypeScore=76.0289;IndelType=D;MQ=60.0;MQ0=0;MQRankSum=-0.666;QD=19.35;ReadPosRankSum=-1.555;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNTN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000532366 GT:AD:DP:GQ:PL 0/1:8,10:18:99:387,0,396
1 205028915 rs10793725 C T 148.87 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.031;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.031;QD=13.53;ReadPosRankSum=0.387;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNTN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000532366 GT:AD:DP:GQ:PL 0/1:5,6:11:99:179,0,137
1 205030862 rs41264869 C T 568.86 PASS AB=0.28;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.059;DB;DP=25;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.07;MQ0=0;MQRankSum=-0.03;QD=22.75;ReadPosRankSum=0.878;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNTN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000532366 GT:AD:DP:GQ:PL 0/1:7,18:25:99:599,0,212
1 205031116 rs2229866 C T 280.07 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=2.154;DB;DP=22;Dels=0.0;FS=3.245;HRun=1;HaplotypeScore=0.0;MQ=56.78;MQ0=0;MQRankSum=-1.398;QD=12.73;ReadPosRankSum=1.474;SNPEFF_AMINO_ACID_CHANGE=P366L;SNPEFF_CODON_CHANGE=cCt/cTt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_205030993_205031129;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNTN2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000331830 GT:AD:DP:GQ:PL 0/1:10,12:22:99:310,0,300
1 205031449 rs7545698 A G 453.72 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.9;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNTN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000532366 GT:AD:DP:GQ:PL 1/1:0,13:13:36.11:487,36,0
1 205031744 rs2242001 G A 214.41 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.278;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9159;MQ=60.0;MQ0=0;MQRankSum=-1.034;QD=17.87;ReadPosRankSum=0.678;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNTN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000530117 GT:AD:DP:GQ:PL 0/1:4,8:12:99:244,0,131
1 205031769 rs2242000 G A 197.28 PASS AB=0.3;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.386;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.386;QD=19.73;ReadPosRankSum=-0.296;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNTN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000530117 GT:AD:DP:GQ:PL 0/1:3,7:10:95.14:227,0,95
1 205033283 rs1470637 G A 361.29 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=3.538;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.147;QD=13.38;ReadPosRankSum=1.391;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNTN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000530117 GT:AD:DP:GQ:PL 0/1:15,12:27:99:391,0,403
1 205033374 rs2305277 T C 1372.74 PASS AB=0.547;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.158;DB;DP=106;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.748;MQ=59.78;MQ0=0;MQRankSum=0.505;QD=12.95;ReadPosRankSum=0.164;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNTN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000530117 GT:AD:DP:GQ:PL 0/1:58,48:106:99:1403,0,1982
1 205034488 rs4460698 A G 226.32 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.031;DB;DP=24;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9332;MQ=59.03;MQ0=0;MQRankSum=-0.153;QD=9.43;ReadPosRankSum=0.704;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNTN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000527340 GT:AD:DP:GQ:PL 0/1:16,8:24:99:256,0,577
1 205038731 rs2305275 C T 367.61 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.05;MQ0=0;QD=30.63;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNTN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000527340 GT:AD:DP:GQ:PL 1/1:0,12:12:30.10:401,30,0
1 205039288 rs12134724 T C 81.06 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.02;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNTN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000530594 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:113,9,0
1 205041015 rs11240349 G A 122.86 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.268;DB;DP=10;Dels=0.0;FS=3.522;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.268;QD=12.29;ReadPosRankSum=0.103;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNTN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331830 GT:AD:DP:GQ:PL 0/1:5,5:10:99:153,0,103
1 205041465 rs6662930 T C 37.97 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=4.771;HRun=1;HaplotypeScore=0.0;MQ=51.77;MQ0=0;MQRankSum=0.736;QD=12.66;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNTN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331830 GT:AD:DP:GQ:PL 0/1:1,2:3:24.41:68,0,24
1 205041542 rs3903399 T C 94.53 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=1.652;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=54.65;MQ0=0;MQRankSum=-2.219;QD=10.5;ReadPosRankSum=-0.876;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNTN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331830 GT:AD:DP:GQ:PL 0/1:4,5:9:99:125,0,119
1 205042115 rs56338794 C T 126.79 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.7;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNTN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000525433 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:159,12,0
1 205042797 . G A 214.86 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.868;DP=15;Dels=0.0;FS=2.447;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.405;QD=14.32;ReadPosRankSum=0.289;SNPEFF_AMINO_ACID_CHANGE=M1009I;SNPEFF_CODON_CHANGE=atG/atA;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_205042784_205047627;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNTN2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000331830 GT:AD:DP:GQ:PL 0/1:8,7:15:99:245,0,199
1 205042939 rs17416088 C T 61.32 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.866;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=6.13;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNTN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000525433 GT:AD:DP:GQ:PL 0/1:6,4:10:91.31:91,0,169
1 205052939 rs4950979 G A 2858.11 PASS AC=2;AF=1.00;AN=2;DB;DP=79;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;QD=36.18;SNPEFF_AMINO_ACID_CHANGE=L170;SNPEFF_CODON_CHANGE=ctC/ctT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_205052258_205053645;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM81;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367167 GT:AD:DP:GQ:PL 1/1:0,79:79:99:2891,211,0
1 205053219 rs4951168 C T 1418.92 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.53;MQ0=0;QD=35.47;SNPEFF_AMINO_ACID_CHANGE=R77Q;SNPEFF_CODON_CHANGE=cGg/cAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_205052258_205053645;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM81;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367167 GT:AD:DP:GQ:PL 1/1:0,40:40:99:1452,105,0
1 205065733 rs11577406 G T 277.41 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=1.142;DB;DP=24;Dels=0.0;FS=3.617;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.259;QD=11.56;ReadPosRankSum=0.146;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RBBP5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264515 GT:AD:DP:GQ:PL 0/1:14,10:24:99:307,0,447
1 205068001 . T G 77.09 PASS AB=0.36;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.656;DP=25;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=2.4194;MQ=44.68;MQ0=0;MQRankSum=-2.281;QD=3.08;ReadPosRankSum=2.281;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RBBP5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264515 GT:AD:DP:GQ:PL 0/1:9,16:25:99:107,0,164
1 205070573 rs11240358 G A 137.68 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.717;DB;DP=12;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.143;QD=11.47;ReadPosRankSum=0.717;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RBBP5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484379 GT:AD:DP:GQ:PL 0/1:7,5:12:99:168,0,171
1 205074018 rs6683762 T C 483.48 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.23;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RBBP5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484379 GT:AD:DP:GQ:PL 1/1:0,15:15:45.09:516,45,0
1 205074019 rs6692170 G A 150.63 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.993;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.158;QD=9.41;ReadPosRankSum=-0.368;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RBBP5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484379 GT:AD:DP:GQ:PL 0/1:8,8:16:99:181,0,225
1 205074424 rs3738155 C T 65.97 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=2.054;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.248;QD=7.33;ReadPosRankSum=0.573;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RBBP5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264515 GT:AD:DP:GQ:PL 0/1:6,3:9:95.97:96,0,194
1 205090885 rs61822619 C G 494.17 PASS AB=0.304;AC=1;AF=0.50;AN=2;BaseQRankSum=0.167;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.102;QD=21.49;ReadPosRankSum=0.969;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RBBP5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264515 GT:AD:DP:GQ:PL 0/1:7,16:23:99:524,0,226
1 205129319 rs1062715 G A 1530.22 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.444;DB;DP=122;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.81;MQ0=0;MQRankSum=0.418;QD=12.54;ReadPosRankSum=0.26;SNPEFF_AMINO_ACID_CHANGE=F676;SNPEFF_CODON_CHANGE=ttC/ttT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_205129242_205129398;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DSTYK;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367161 GT:AD:DP:GQ:PL 0/1:65,57:122:99:1560,0,2079
1 205130413 rs3851294 A G 3302.98 PASS AC=2;AF=1.00;AN=2;DB;DP=99;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9999;MQ=59.53;MQ0=0;QD=33.36;SNPEFF_AMINO_ACID_CHANGE=C641R;SNPEFF_CODON_CHANGE=Tgt/Cgt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_205130386_205130515;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DSTYK;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367161 GT:AD:DP:GQ:PL 1/1:0,99:99:99:3303,253,0
1 205131059 rs10631913 G GAC 395.94 PASS AC=2;AF=1.00;AN=2;DB;DP=12;FS=0.0;HRun=0;HaplotypeScore=30.9105;IndelType=I;MQ=61.25;MQ0=0;QD=32.99;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DSTYK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367160 GT:AD:DP:GQ:PL 1/1:3,9:12:27.09:438,27,0
1 205133169 rs61822658 T C 149.21 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.858;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.318;QD=9.33;ReadPosRankSum=-1.905;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DSTYK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367160 GT:AD:DP:GQ:PL 0/1:9,7:16:99:179,0,314
1 205138321 rs35845538 G C 624.54 PASS AB=0.457;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.348;DB;DP=35;Dels=0.0;FS=1.344;HRun=0;HaplotypeScore=0.0;MQ=58.8;MQ0=0;MQRankSum=-0.745;QD=17.84;ReadPosRankSum=-0.149;SNPEFF_AMINO_ACID_CHANGE=L432V;SNPEFF_CODON_CHANGE=Ctg/Gtg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_205138291_205138960;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DSTYK;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367160 GT:AD:DP:GQ:PL 0/1:16,19:35:99:655,0,527
1 205197602 rs79431750 C T 102.23 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.421;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.421;QD=12.78;ReadPosRankSum=0.0;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMCC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000495538 GT:AD:DP:GQ:PL 0/1:4,4:8:99:132,0,141
1 205225457 rs1172147 G A 297.02 PASS AB=0.688;AC=1;AF=0.50;AN=2;BaseQRankSum=1.5;DB;DP=32;Dels=0.0;FS=1.694;HRun=1;HaplotypeScore=0.0;MQ=58.59;MQ0=0;MQRankSum=1.585;QD=9.0;ReadPosRankSum=1.669;SNPEFF_EFFECT=SPLICE_SITE_ACCEPTOR;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMCC2;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000367159 GT:AD:DP:GQ:PL 0/1:22,10:32:99:327,0,585
1 205238275 rs1768586 A G 788.31 PASS AB=0.412;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.434;DB;DP=51;Dels=0.0;FS=24.359;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.03;QD=15.46;ReadPosRankSum=-0.03;SNPEFF_AMINO_ACID_CHANGE=A119;SNPEFF_CODON_CHANGE=gcA/gcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_205238078_205238686;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMCC2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367159 GT:AD:DP:GQ:PL 0/1:21,30:51:99:818,0,671
1 205238530 rs1779411 C T 263.75 PASS AB=0.481;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.312;DB;DP=27;Dels=0.0;FS=1.68;HRun=0;HaplotypeScore=0.9665;MQ=59.14;MQ0=0;MQRankSum=1.768;QD=9.77;ReadPosRankSum=0.354;SNPEFF_AMINO_ACID_CHANGE=G160;SNPEFF_CODON_CHANGE=ggC/ggT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_205238078_205239012;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMCC2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000329800 GT:AD:DP:GQ:PL 0/1:13,14:27:99:294,0,356
1 205239031 rs1668870 C G 290.55 PASS AB=0.618;AC=1;AF=0.50;AN=2;BaseQRankSum=0.071;DB;DP=34;Dels=0.0;FS=8.759;HRun=0;HaplotypeScore=0.6651;MQ=59.32;MQ0=0;MQRankSum=0.532;QD=8.55;ReadPosRankSum=0.319;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMCC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367159 GT:AD:DP:GQ:PL 0/1:21,13:34:99:321,0,721
1 205239121 rs1768585 C G 190.24 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.573;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.203;QD=21.14;ReadPosRankSum=-1.203;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMCC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367159 GT:AD:DP:GQ:PL 0/1:3,6:9:85.55:220,0,86
1 205240251 rs1668867 C T 764.24 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=1.342;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9469;MQ=59.34;MQ0=0;MQRankSum=1.909;QD=21.84;ReadPosRankSum=-0.019;SNPEFF_AMINO_ACID_CHANGE=Y322;SNPEFF_CODON_CHANGE=taC/taT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_205240248_205240383;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMCC2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000329800 GT:AD:DP:GQ:PL 0/1:10,25:35:99:794,0,297
1 205240913 rs9659978 A G 260.36 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.54;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMCC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367159 GT:AD:DP:GQ:PL 1/1:0,8:8:24.07:293,24,0
1 205272926 rs1106201 C T 253.11 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.226;DB;DP=30;Dels=0.0;FS=1.527;HRun=0;HaplotypeScore=1.5592;MQ=59.23;MQ0=0;MQRankSum=0.453;QD=8.44;ReadPosRankSum=-0.453;SNPEFF_AMINO_ACID_CHANGE=L513;SNPEFF_CODON_CHANGE=ttG/ttA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_205271187_205273641;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NUAK2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367157 GT:AD:DP:GQ:PL 0/1:21,9:30:99:283,0,629
1 205272983 rs1106202 C G 389.94 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=0.196;DB;DP=30;Dels=0.0;FS=1.485;HRun=1;HaplotypeScore=0.5784;MQ=59.23;MQ0=0;MQRankSum=-0.153;QD=13.0;ReadPosRankSum=0.327;SNPEFF_AMINO_ACID_CHANGE=L494;SNPEFF_CODON_CHANGE=ctG/ctC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_205271187_205273641;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NUAK2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367157 GT:AD:DP:GQ:PL 0/1:16,14:30:99:420,0,538
1 205274174 rs10793728 A G 390.71 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.56;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NUAK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367157 GT:AD:DP:GQ:PL 1/1:0,12:12:36.09:424,36,0
1 205275061 rs4951194 C T 51.16 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NUAK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367157 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
1 205275206 rs4951195 A T 305.21 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.95;MQ0=0;QD=13.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NUAK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367157 GT:AD:DP:GQ:PL 1/1:0,22:22:35.97:338,36,0
1 205275207 rs4951196 G T 304.59 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.95;MQ0=0;QD=13.85;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NUAK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367157 GT:AD:DP:GQ:PL 1/1:0,22:22:35.97:338,36,0
1 205275421 rs4951197 A G 2476.22 PASS AC=2;AF=1.00;AN=2;DB;DP=78;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.75;SNPEFF_AMINO_ACID_CHANGE=G195;SNPEFF_CODON_CHANGE=ggT/ggC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_205275316_205275435;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NUAK2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367157 GT:AD:DP:GQ:PL 1/1:0,78:78:99:2509,190,0
1 205290794 rs3738746 G A 168.06 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.072;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9665;MQ=60.0;MQ0=0;MQRankSum=0.741;QD=16.81;ReadPosRankSum=0.633;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_1_205290526_205290883;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NUAK2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367157 GT:AD:DP:GQ:PL 0/1:4,6:10:99:198,0,136
1 205306445 rs72747066 C T 194.33 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.27;DB;DP=16;Dels=0.0;FS=3.59;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.423;QD=12.15;ReadPosRankSum=0.318;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KLHDC8A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460687 GT:AD:DP:GQ:PL 0/1:9,7:16:99:224,0,326
1 205307789 rs11240441 G A 393.49 PASS AB=0.188;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.076;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.942;QD=24.59;ReadPosRankSum=0.673;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KLHDC8A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491471 GT:AD:DP:GQ:PL 0/1:3,13:16:73.11:423,0,73
1 205308335 rs1105385 G A 318.56 PASS AB=0.421;AC=1;AF=0.50;AN=2;BaseQRankSum=2.188;DB;DP=19;Dels=0.0;FS=2.029;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.784;QD=16.77;ReadPosRankSum=-2.106;SNPEFF_AMINO_ACID_CHANGE=F135;SNPEFF_CODON_CHANGE=ttC/ttT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_205308322_205308537;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KLHDC8A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000537168 GT:AD:DP:GQ:PL 0/1:8,11:19:99:349,0,207
1 205308368 rs1105387 C T 379.49 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.974;DB;DP=26;Dels=0.0;FS=1.58;HRun=0;HaplotypeScore=1.8614;MQ=60.0;MQ0=0;MQRankSum=-0.718;QD=14.6;ReadPosRankSum=0.923;SNPEFF_AMINO_ACID_CHANGE=R124;SNPEFF_CODON_CHANGE=cgG/cgA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_205308322_205308537;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KLHDC8A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000537168 GT:AD:DP:GQ:PL 0/1:13,13:26:99:409,0,435
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1 205388687 rs913727 T G 53.64 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.82;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LEMD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367149 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:85,6,0
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1 205548956 rs112374673 G A 891.90 PASS AB=0.484;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.075;DB;DP=64;Dels=0.0;FS=0.995;HRun=0;HaplotypeScore=0.0;MQ=59.28;MQ0=0;MQRankSum=-0.309;QD=13.94;ReadPosRankSum=-0.403;SNPEFF_AMINO_ACID_CHANGE=R103H;SNPEFF_CODON_CHANGE=cGc/cAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_205548879_205549077;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MFSD4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367147 GT:AD:DP:GQ:PL 0/1:31,33:64:99:922,0,913
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1 205568442 rs2282452 G A 246.88 PASS AB=0.438;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.694;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.376;QD=15.43;ReadPosRankSum=1.588;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MFSD4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471425 GT:AD:DP:GQ:PL 0/1:7,9:16:99:277,0,245
1 205628616 rs137949511 C T 286.33 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=2.44;DB;DP=16;Dels=0.0;FS=1.987;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.271;QD=17.9;ReadPosRankSum=0.813;SNPEFF_AMINO_ACID_CHANGE=V470I;SNPEFF_CODON_CHANGE=Gta/Ata;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_205626979_205628799;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SLC45A3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367145 GT:AD:DP:GQ:PL 0/1:6,10:16:99:316,0,163
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1 205740426 rs35188989 C CA 206.33 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.004;DB;DP=19;FS=0.0;HRun=14;HaplotypeScore=258.8657;IndelType=I;MQ=46.35;MQ0=0;MQRankSum=-0.456;QD=10.86;ReadPosRankSum=-0.274;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RAB7L1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000533111 GT:AD:DP:GQ:PL 1/1:6,12:19:2.56:245,3,0
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1 205764640 rs823156 G A 500.93 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.31;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC41A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367137 GT:AD:DP:GQ:PL 1/1:0,16:16:39.13:534,39,0
1 205766159 rs5780304 CA C 590.59 PASS AC=2;AF=1.00;AN=2;DB;DP=18;FS=0.0;HRun=3;HaplotypeScore=44.4976;IndelType=D;MQ=58.71;MQ0=0;QD=32.81;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC41A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367137 GT:AD:DP:GQ:PL 1/1:1,17:18:51.16:633,51,0
1 205768309 rs4396169 C T 395.41 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.87;MQ0=0;QD=35.95;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC41A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367137 GT:AD:DP:GQ:PL 1/1:0,11:11:33.11:428,33,0
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1 205798033 rs823085 G A 52.28 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PM20D1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367136 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
1 205814485 rs1104899 G A 2610.14 PASS AC=2;AF=1.00;AN=2;DB;DP=80;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.71;MQ0=0;QD=32.63;SNPEFF_AMINO_ACID_CHANGE=R153W;SNPEFF_CODON_CHANGE=Cgg/Tgg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_205814453_205814685;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PM20D1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367136 GT:AD:DP:GQ:PL 1/1:0,80:80:99:2643,193,0
1 205814497 rs1891460 T C 2095.56 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.65;MQ0=0;QD=31.75;SNPEFF_AMINO_ACID_CHANGE=I149V;SNPEFF_CODON_CHANGE=Atc/Gtc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_205814453_205814685;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PM20D1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367136 GT:AD:DP:GQ:PL 1/1:0,66:66:99:2129,174,0
1 205816893 rs112268616 T C 35.63 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=23.68;MQ0=1;QD=11.88;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PM20D1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367136 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:67,6,0
1 205884646 rs113727128 CTGTG C 201.45 PASS AC=2;AF=1.00;AN=2;DB;DP=13;FS=0.0;HRun=0;HaplotypeScore=70.8465;IndelType=D;MQ=58.2;MQ0=0;QD=15.5;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC26A9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340781 GT:AD:DP:GQ:PL 1/1:8,5:13:15.05:243,15,0
1 205886381 rs11240591 C T 2225.19 PASS AB=0.531;AC=1;AF=0.50;AN=2;BaseQRankSum=1.497;DB;DP=176;Dels=0.0;FS=3.785;HRun=0;HaplotypeScore=4.6708;MQ=58.81;MQ0=0;MQRankSum=0.947;QD=12.64;ReadPosRankSum=-0.981;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC26A9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340781 GT:AD:DP:GQ:PL 0/1:93,82:176:99:2255,0,2693
1 205888143 rs11240593 G C 2533.67 PASS AB=0.476;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.069;DB;DP=170;DS;Dels=0.0;FS=0.685;HRun=0;HaplotypeScore=2.8904;MQ=59.75;MQ0=0;MQRankSum=0.319;QD=14.9;ReadPosRankSum=-0.71;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC26A9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461505 GT:AD:DP:GQ:PL 0/1:81,89:170:99:2564,0,2336
1 205888272 rs7366689 T C 755.05 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.46;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC26A9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461505 GT:AD:DP:GQ:PL 1/1:0,24:24:63.18:788,63,0
1 205890679 rs12759719 T C 239.17 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=57.39;MQ0=0;QD=26.57;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC26A9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461505 GT:AD:DP:GQ:PL 1/1:0,9:9:21.07:272,21,0
1 205892411 rs3811427 T C 679.38 PASS AB=0.51;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.206;DB;DP=49;Dels=0.0;FS=6.846;HRun=0;HaplotypeScore=0.9832;MQ=59.53;MQ0=0;MQRankSum=0.062;QD=13.86;ReadPosRankSum=2.311;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC26A9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469392 GT:AD:DP:GQ:PL 0/1:25,24:49:99:709,0,820
1 205892415 rs3811426 C T 775.73 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.649;DB;DP=52;Dels=0.0;FS=11.273;HRun=0;HaplotypeScore=0.0;MQ=59.56;MQ0=0;MQRankSum=-0.97;QD=14.92;ReadPosRankSum=1.479;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC26A9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469392 GT:AD:DP:GQ:PL 0/1:26,26:52:99:806,0,824
1 205893699 rs9438402 T C 73.88 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.754;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.55;QD=10.55;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC26A9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469392 GT:AD:DP:GQ:PL 0/1:3,4:7:99:104,0,109
1 205896235 rs11240594 G A 315.45 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=0.89;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.165;QD=14.34;ReadPosRankSum=-0.231;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC26A9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469392 GT:AD:DP:GQ:PL 0/1:10,12:22:99:345,0,345
1 205896475 rs7366204 C T 858.86 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.7;MQ0=0;QD=34.35;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC26A9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469392 GT:AD:DP:GQ:PL 1/1:0,25:25:69.20:892,69,0
1 205896948 rs3811424 A G 724.46 PASS AB=0.509;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=57;Dels=0.0;FS=2.619;HRun=0;HaplotypeScore=0.9989;MQ=59.27;MQ0=0;MQRankSum=0.328;QD=12.71;ReadPosRankSum=-1.164;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC26A9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340781 GT:AD:DP:GQ:PL 0/1:29,28:57:99:754,0,906
1 205897876 rs12568779 C T 132.48 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.381;DB;DP=13;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.696;QD=10.19;ReadPosRankSum=0.212;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC26A9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340781 GT:AD:DP:GQ:PL 0/1:8,5:13:99:162,0,260
1 205901287 rs11240596 T A 110.23 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.793;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9332;MQ=58.43;MQ0=0;MQRankSum=-1.0;QD=9.19;ReadPosRankSum=0.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC26A9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340781 GT:AD:DP:GQ:PL 0/1:7,5:12:99:140,0,252
1 205901788 rs3811423 G T 41.08 PASS AB=0.833;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.197;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=60.0;MQ0=0;MQRankSum=0.567;QD=2.28;ReadPosRankSum=0.693;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC26A9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340781 GT:AD:DP:GQ:PL 0/1:15,3:18:71.07:71,0,479
1 206145248 . G A 32.45 MQFilter40 AC=2;AF=1.00;AN=2;BaseQRankSum=-0.727;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=16.98;MQ0=3;MQRankSum=0.727;QD=4.64;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FAM72A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341209 GT:AD:DP:GQ:PL 1/1:4,3:7:6:64,6,0
1 206516159 . C T 353.92 MQFilter40 AB=0.623;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.954;DP=130;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=13.12;MQ0=107;MQRankSum=-0.651;QD=2.72;ReadPosRankSum=-0.093;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SRGAP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000414359 GT:AD:DP:GQ:PL 0/1:81,49:130:99:384,0,251
1 206516261 . C T 442.26 MQFilter40 AB=0.67;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.491;DP=206;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.5731;MQ=16.29;MQ0=154;MQRankSum=0.875;QD=2.15;ReadPosRankSum=0.414;SNPEFF_AMINO_ACID_CHANGE=R22W;SNPEFF_CODON_CHANGE=Cgg/Tgg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_206516198_206516362;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SRGAP2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000414359 GT:AD:DP:GQ:PL 0/1:138,68:206:99:472,0,1036
1 206566173 . G A 288.76 MQFilter40 AB=0.76;AC=1;AF=0.50;AN=2;BaseQRankSum=0.062;DP=104;Dels=0.0;FS=2.026;HRun=0;HaplotypeScore=0.734;MQ=37.16;MQ0=0;MQRankSum=-1.127;QD=2.78;ReadPosRankSum=0.612;SNPEFF_AMINO_ACID_CHANGE=R119H;SNPEFF_CODON_CHANGE=cGc/cAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_206566046_206566261;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SRGAP2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000414359 GT:AD:DP:GQ:PL 0/1:79,25:104:99:319,0,1814
1 206566860 rs33922845 TA T 67.16 QDFilter2 AB=0.809;AC=1;AF=0.50;AN=2;BaseQRankSum=4.755;DB;DP=96;FS=5.502;HRun=11;HaplotypeScore=333.5031;IndelType=D;MQ=49.76;MQ0=8;MQRankSum=-4.675;QD=0.61;ReadPosRankSum=-3.061;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SRGAP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000414007 GT:AD:DP:GQ:PL 0/1:84,22:96:99:106,0,1978
1 206566904 rs2919105 T C 2179.66 PASS AB=0.564;AC=1;AF=0.50;AN=2;BaseQRankSum=6.657;DB;DP=211;Dels=0.0;FS=27.526;HRun=1;HaplotypeScore=6.8133;MQ=49.77;MQ0=10;MQRankSum=-6.169;QD=10.33;ReadPosRankSum=-0.413;SNPEFF_AMINO_ACID_CHANGE=R149;SNPEFF_CODON_CHANGE=cgT/cgC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_206566902_206567030;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SRGAP2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000414359 GT:AD:DP:GQ:PL 0/1:119,92:211:99:2210,0,3541
1 206567100 rs2480377 C T 1088.11 PASS AB=0.724;AC=1;AF=0.50;AN=2;BaseQRankSum=7.518;DB;DP=163;DS;Dels=0.0;FS=10.543;HRun=0;HaplotypeScore=2.6078;MQ=56.79;MQ0=3;MQRankSum=1.303;QD=6.68;ReadPosRankSum=0.229;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SRGAP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000414007 GT:AD:DP:GQ:PL 0/1:118,45:163:99:1118,0,3323
1 206567165 rs2480376 T A 496.34 PASS AB=0.721;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.186;DB;DP=68;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.7887;MQ=58.45;MQ0=1;MQRankSum=0.283;QD=7.3;ReadPosRankSum=0.028;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SRGAP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000414007 GT:AD:DP:GQ:PL 0/1:49,19:68:99:526,0,1700
1 206575141 rs77896938 A C 145.33 MQFilter40 AB=0.459;AC=1;AF=0.50;AN=2;BaseQRankSum=2.413;DB;DP=37;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=18.13;MQ0=10;MQRankSum=-0.638;QD=3.93;ReadPosRankSum=0.305;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SRGAP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000414007 GT:AD:DP:GQ:PL 0/1:17,20:37:99:175,0,127
1 206580084 rs143665212 C G 399.56 MQFilter40 AB=0.41;AC=1;AF=0.50;AN=2;BaseQRankSum=1.455;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=21.16;MQ0=6;MQRankSum=-0.461;QD=10.25;ReadPosRankSum=0.497;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SRGAP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000414007 GT:AD:DP:GQ:PL 0/1:16,23:39:99:430,0,239
1 206603535 rs2297539 G A 5144.28 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.665;DB;DP=156;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.7174;MQ=59.88;MQ0=0;MQRankSum=-1.192;QD=32.98;ReadPosRankSum=0.54;SNPEFF_AMINO_ACID_CHANGE=L120;SNPEFF_CODON_CHANGE=ctG/ctA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_206603512_206603572;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SRGAP2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000439126 GT:AD:DP:GQ:PL 1/1:1,155:156:99:5144,376,0
1 206623685 rs12725078 G T 454.56 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.983;DB;DP=35;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9665;MQ=60.0;MQ0=0;MQRankSum=-0.183;QD=12.99;ReadPosRankSum=0.317;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SRGAP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000414007 GT:AD:DP:GQ:PL 0/1:20,15:35:99:485,0,680
1 206623866 rs11809494 C T 371.04 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=2.468;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.07;MQ0=0;MQRankSum=0.749;QD=14.84;ReadPosRankSum=-0.194;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SRGAP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000414007 GT:AD:DP:GQ:PL 0/1:10,15:25:99:401,0,174
1 206623952 rs2483060 T C 58.36 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=1.307;DB;DP=9;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.361;QD=6.48;ReadPosRankSum=-1.159;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SRGAP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000414007 GT:AD:DP:GQ:PL 0/1:5,4:9:88.36:88,0,157
1 206626607 rs11120575 G A 584.02 PASS AB=0.524;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.894;DB;DP=42;Dels=0.0;FS=4.531;HRun=0;HaplotypeScore=2.5775;MQ=58.55;MQ0=0;MQRankSum=1.347;QD=13.91;ReadPosRankSum=1.247;SNPEFF_AMINO_ACID_CHANGE=L361;SNPEFF_CODON_CHANGE=ctG/ctA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_206626546_206626726;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SRGAP2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000439126 GT:AD:DP:GQ:PL 0/1:22,20:42:99:614,0,670
1 206626779 rs2483059 A G 173.23 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=0.135;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.831;QD=14.44;ReadPosRankSum=0.135;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SRGAP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000414007 GT:AD:DP:GQ:PL 0/1:5,7:12:99:203,0,167
1 206626828 rs2483058 C G 160.02 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=1.422;DB;DP=9;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.248;QD=17.78;ReadPosRankSum=0.248;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SRGAP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000414007 GT:AD:DP:GQ:PL 0/1:3,6:9:80.44:190,0,80
1 206634610 rs141859199 G A 476.47 PASS AB=0.574;AC=1;AF=0.50;AN=2;BaseQRankSum=0.513;DB;DP=48;Dels=0.0;FS=1.295;HRun=0;HaplotypeScore=0.0;MQ=59.52;MQ0=0;MQRankSum=-1.004;QD=9.93;ReadPosRankSum=2.588;SNPEFF_AMINO_ACID_CHANGE=A881T;SNPEFF_CODON_CHANGE=Gcc/Acc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_206634382_206637783;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SRGAP2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000414007 GT:AD:DP:GQ:PL 0/1:27,20:48:99:506,0,791
1 206647742 rs1539242 A G 897.46 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.28;MQ0=0;QD=34.52;SNPEFF_AMINO_ACID_CHANGE=Q52;SNPEFF_CODON_CHANGE=caA/caG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_206647674_206647814;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IKBKE;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367120 GT:AD:DP:GQ:PL 1/1:0,26:26:72.23:930,72,0
1 206647787 rs1539243 T C 525.37 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.02;SNPEFF_AMINO_ACID_CHANGE=I67;SNPEFF_CODON_CHANGE=atT/atC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_206647674_206647814;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IKBKE;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367120 GT:AD:DP:GQ:PL 1/1:0,21:21:48.12:558,48,0
1 206648378 rs1059704 G A 632.99 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.89;MQ0=0;QD=30.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IKBKE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367120 GT:AD:DP:GQ:PL 1/1:0,21:21:48.16:666,48,0
1 206665896 rs2336940 C G 1414.82 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.82;MQ0=0;QD=34.51;SNPEFF_AMINO_ACID_CHANGE=G213A;SNPEFF_CODON_CHANGE=gGt/gCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_206664449_206666409;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf147;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367119 GT:AD:DP:GQ:PL 1/1:0,41:41:99:1448,111,0
1 206667441 rs2184030 G A 208.78 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.8;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf147;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367119 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:242,18,0
1 206670827 rs12754274 G T 345.59 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.42;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IKBKE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367120 GT:AD:DP:GQ:PL 1/1:0,11:11:27.09:379,27,0
1 206680983 rs2095124 A C 138.80 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.76;SNPEFF_AMINO_ACID_CHANGE=L16;SNPEFF_CODON_CHANGE=ctA/ctC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_206680879_206681392;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RASSF5;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000338603 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:171,12,0
1 206758077 rs4418597 T A 528.91 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.63;MQ0=0;QD=31.11;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RASSF5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304534 GT:AD:DP:GQ:PL 1/1:0,17:17:48.11:562,48,0
1 206759975 rs10779488 G A 107.03 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.729;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.159;QD=11.89;ReadPosRankSum=-1.652;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=EIF2D;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367114 GT:AD:DP:GQ:PL 0/1:5,4:9:99:137,0,175
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1 207072959 rs1150255 C T 95.68 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.159;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.361;QD=10.63;ReadPosRankSum=-0.361;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAIM3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367091 GT:AD:DP:GQ:PL 0/1:5,4:9:99:126,0,182
1 207073491 rs1150257 T C 91.06 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.421;DB;DP=9;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=57.39;MQ0=0;MQRankSum=-0.421;QD=10.12;ReadPosRankSum=-0.922;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAIM3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367091 GT:AD:DP:GQ:PL 0/1:5,4:9:99:121,0,138
1 207074905 rs1150258 T C 455.27 PASS AB=0.308;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.051;DB;DP=26;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.827;QD=17.51;ReadPosRankSum=0.031;SNPEFF_AMINO_ACID_CHANGE=Y124H;SNPEFF_CODON_CHANGE=Tac/Cac;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_207074839_207074997;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL24;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000294984 GT:AD:DP:GQ:PL 0/1:8,18:26:99:485,0,258
1 207086969 rs291083 A G 109.10 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.922;DB;DP=8;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.421;QD=13.64;ReadPosRankSum=-0.922;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAIM3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000530505 GT:AD:DP:GQ:PL 0/1:4,4:8:99:139,0,140
1 207087435 rs167082 C T 994.74 PASS AB=0.479;AC=1;AF=0.50;AN=2;BaseQRankSum=5.864;DB;DP=71;Dels=0.0;FS=4.519;HRun=0;HaplotypeScore=0.0;MQ=59.68;MQ0=0;MQRankSum=1.755;QD=14.01;ReadPosRankSum=-0.639;SNPEFF_AMINO_ACID_CHANGE=S14;SNPEFF_CODON_CHANGE=tcG/tcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_207087104_207087439;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAIM3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367091 GT:AD:DP:GQ:PL 0/1:34,37:71:99:1025,0,911
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1 207225266 rs4844372 T C 53.22 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.61;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PFKFB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000411990 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
1 207235954 rs2075863 G A 3411.93 PASS AB=0.469;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.155;DB;DP=230;Dels=0.0;FS=1.055;HRun=0;HaplotypeScore=5.1116;MQ=60.0;MQ0=0;MQRankSum=-0.432;QD=14.83;ReadPosRankSum=-0.578;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PFKFB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367079 GT:AD:DP:GQ:PL 0/1:107,121:230:99:3412,0,2995
1 207237233 rs57138984 G GGGGTGTGTGTGTGTGT 2130.50 PASS AB=0.723;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.839;DB;DP=60;FS=3.477;HRun=0;HaplotypeScore=687.6804;IndelType=I;MQ=57.99;MQ0=0;MQRankSum=0.845;QD=35.51;ReadPosRankSum=-0.766;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PFKFB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464777 GT:AD:DP:GQ:PL 0/1:34,12:60:99:2170,0,2421
1 207238419 rs72741390 C T 451.21 PASS AB=0.517;AC=1;AF=0.50;AN=2;BaseQRankSum=0.161;DB;DP=29;Dels=0.0;FS=5.904;HRun=0;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=0.253;QD=15.56;ReadPosRankSum=1.264;SNPEFF_AMINO_ACID_CHANGE=N149;SNPEFF_CODON_CHANGE=aaC/aaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_207238381_207238505;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PFKFB2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000545806 GT:AD:DP:GQ:PL 0/1:15,14:29:99:481,0,379
1 207241440 rs113179854 A AGTGTGTGTGT 792.62 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.733;DB;DP=16;FS=0.0;HRun=0;HaplotypeScore=109.2606;IndelType=I;MQ=51.42;MQ0=0;MQRankSum=-2.573;QD=49.54;ReadPosRankSum=-1.838;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PFKFB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464777 GT:AD:DP:GQ:PL 0/1:8,5:16:99:832,0,627
1 207245045 rs11120137 T C 43.76 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.166;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.296;QD=4.38;ReadPosRankSum=0.546;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PFKFB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367079 GT:AD:DP:GQ:PL 0/1:7,3:10:73.75:74,0,259
1 207262980 rs12711513 T G 266.92 PASS AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.347;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9997;MQ=60.0;MQ0=0;MQRankSum=-0.367;QD=14.05;ReadPosRankSum=-0.939;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C4BPB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000243611 GT:AD:DP:GQ:PL 0/1:10,9:19:99:297,0,364
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1 207297680 rs1126618 T C 1644.42 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=57.83;MQ0=0;QD=30.45;SNPEFF_AMINO_ACID_CHANGE=G225;SNPEFF_CODON_CHANGE=ggT/ggC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_207297520_207297711;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C4BPA;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367070 GT:AD:DP:GQ:PL 1/1:0,54:54:99:1677,135,0
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1 207304900 rs4844573 T C 799.78 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.28;MQ0=0;QD=30.76;SNPEFF_AMINO_ACID_CHANGE=I300T;SNPEFF_CODON_CHANGE=aTt/aCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_207304891_207305085;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C4BPA;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367070 GT:AD:DP:GQ:PL 1/1:0,25:26:60.19:833,60,0
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1 207504748 rs1507757 C A 250.15 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.27;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD55;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000314754 GT:AD:DP:GQ:PL 1/1:0,8:8:21.07:283,21,0
1 207510289 rs2490257 T C 325.66 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD55;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000314754 GT:AD:DP:GQ:PL 1/1:0,12:12:27.08:359,27,0
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1 207510596 rs113231892 G A 454.08 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.93;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD55;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000314754 GT:AD:DP:GQ:PL 1/1:0,13:13:36.12:487,36,0
1 207639695 rs311311 C G 76.46 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.361;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.652;QD=8.5;ReadPosRankSum=-0.876;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367057 GT:AD:DP:GQ:PL 0/1:4,5:9:99:106,0,148
1 207640345 rs1032980 G T 246.03 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=1.835;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.43;MQ0=0;MQRankSum=0.536;QD=20.5;ReadPosRankSum=-1.134;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479186 GT:AD:DP:GQ:PL 0/1:4,8:12:99:276,0,131
1 207641840 rs2063143 C T 358.67 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.202;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.606;QD=14.94;ReadPosRankSum=0.953;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479186 GT:AD:DP:GQ:PL 0/1:12,12:24:99:389,0,384
1 207642295 rs1507764 G A 420.89 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.597;DB;DP=33;Dels=0.0;FS=3.732;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.127;QD=12.75;ReadPosRankSum=-1.175;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479186 GT:AD:DP:GQ:PL 0/1:18,15:33:99:451,0,595
1 207643949 rs10863322 G A 79.12 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.38;QD=13.19;ReadPosRankSum=-0.72;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479186 GT:AD:DP:GQ:PL 0/1:2,4:6:65.39:109,0,65
1 207645956 rs9429936 C A 37.42 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.231;QD=7.48;ReadPosRankSum=0.358;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475194 GT:AD:DP:GQ:PL 0/1:3,2:5:67.41:67,0,112
1 207646322 rs1048971 G A 645.92 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.473;DB;DP=55;Dels=0.0;FS=2.347;HRun=0;HaplotypeScore=0.0;MQ=59.58;MQ0=0;MQRankSum=0.484;QD=11.74;ReadPosRankSum=-0.625;SNPEFF_AMINO_ACID_CHANGE=L565;SNPEFF_CODON_CHANGE=ctG/ctA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_207646218_207646524;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CR2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000458541 GT:AD:DP:GQ:PL 0/1:33,22:55:99:676,0,1003
1 207646462 rs17615 G A 938.99 PASS AB=0.544;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.496;DB;DP=68;Dels=0.0;FS=0.961;HRun=1;HaplotypeScore=1.6006;MQ=59.39;MQ0=0;MQRankSum=-1.912;QD=13.81;ReadPosRankSum=-0.444;SNPEFF_AMINO_ACID_CHANGE=S612N;SNPEFF_CODON_CHANGE=aGt/aAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_207646218_207646524;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CR2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000458541 GT:AD:DP:GQ:PL 0/1:37,31:68:99:969,0,1154
1 207646898 rs4308977 T C 859 PASS AB=0.565;AC=1;AF=0.50;AN=2;BaseQRankSum=4.542;DB;DP=62;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.843;QD=13.85;ReadPosRankSum=0.589;SNPEFF_AMINO_ACID_CHANGE=S663P;SNPEFF_CODON_CHANGE=Tca/Cca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_207646890_207647066;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CR2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367057 GT:AD:DP:GQ:PL 0/1:35,27:62:99:889,0,1082
1 207646923 rs17616 G A 920.90 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=3.446;DB;DP=77;Dels=0.0;FS=4.851;HRun=0;HaplotypeScore=1.8625;MQ=60.0;MQ0=0;MQRankSum=-0.089;QD=11.96;ReadPosRankSum=-0.721;SNPEFF_AMINO_ACID_CHANGE=R671H;SNPEFF_CODON_CHANGE=cGt/cAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_207646890_207647066;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CR2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367057 GT:AD:DP:GQ:PL 0/1:44,33:77:99:951,0,1213
1 207653395 rs6540433 C A 911.09 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.04;SNPEFF_AMINO_ACID_CHANGE=A1003E;SNPEFF_CODON_CHANGE=gCa/gAa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_207653323_207653398;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CR2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367058 GT:AD:DP:GQ:PL 1/1:0,26:26:69.22:944,69,0
1 207653444 rs17258996 T A 277.94 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.413;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.88;MQ0=0;MQRankSum=-0.53;QD=13.9;ReadPosRankSum=0.353;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367057 GT:AD:DP:GQ:PL 0/1:10,10:20:99:308,0,325
1 207679307 rs4844600 A G 5252.54 PASS AC=2;AF=1.00;AN=2;DB;DP=158;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9454;MQ=47.38;MQ0=0;QD=33.24;SNPEFF_AMINO_ACID_CHANGE=E60;SNPEFF_CODON_CHANGE=gaA/gaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_207679249_207679428;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CR1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367049 GT:AD:DP:GQ:PL 1/1:0,157:158:99:5253,409,0
1 207700348 rs146366639 G A 203.11 MQFilter40;QDFilter2 AC=2;AF=1.00;AN=2;DB;DP=237;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=5.96;MQ0=207;QD=0.86;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367049 GT:AD:DP:GQ:PL 1/1:87,150:237:27:236,27,0
1 207739127 rs3886100 A G 2671.25 PASS AC=2;AF=1.00;AN=2;DB;DP=74;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.46;MQ0=0;QD=36.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367049 GT:AD:DP:GQ:PL 1/1:0,74:74:99:2704,205,0
1 207741009 . T C 128.48 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=0.065;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=47.52;MQ0=0;MQRankSum=-3.163;QD=9.18;ReadPosRankSum=0.71;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367049 GT:AD:DP:GQ:PL 0/1:8,6:14:99:158,0,289
1 207741019 rs41274758 C T 138.15 PASS AB=0.579;AC=1;AF=0.50;AN=2;BaseQRankSum=0.206;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=45.99;MQ0=0;MQRankSum=-3.014;QD=7.27;ReadPosRankSum=1.362;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367049 GT:AD:DP:GQ:PL 0/1:11,8:19:99:168,0,371
1 207753345 rs2274566 C T 91.02 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.34;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367049 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:123,9,0
1 207760773 rs3737002 C T 1489.43 PASS AB=0.509;AC=1;AF=0.50;AN=2;BaseQRankSum=1.99;DB;DP=114;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9332;MQ=59.8;MQ0=0;MQRankSum=0.531;QD=13.07;ReadPosRankSum=-0.749;SNPEFF_AMINO_ACID_CHANGE=T1408M;SNPEFF_CODON_CHANGE=aCg/aTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_207760731_207760910;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CR1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367051 GT:AD:DP:GQ:PL 0/1:58,56:114:99:1519,0,1737
1 207782707 rs17259045 A G 2311.28 PASS AB=0.411;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.346;DB;DP=129;Dels=0.0;FS=5.555;HRun=0;HaplotypeScore=2.2611;MQ=59.64;MQ0=0;MQRankSum=1.292;QD=17.92;ReadPosRankSum=1.429;SNPEFF_AMINO_ACID_CHANGE=N1090S;SNPEFF_CODON_CHANGE=aAt/aGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_207782635_207782891;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CR1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000534202 GT:AD:DP:GQ:PL 0/1:53,76:129:99:2341,0,1580
1 207782916 rs4844609 A T 2887.83 PASS AC=2;AF=1.00;AN=2;DB;DP=87;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=2.6336;MQ=59.79;MQ0=0;QD=33.19;SNPEFF_AMINO_ACID_CHANGE=T1610S;SNPEFF_CODON_CHANGE=Acc/Tcc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_207782635_207783033;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CR1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367051 GT:AD:DP:GQ:PL 1/1:0,87:87:99:2921,220,0
1 207784968 rs3818361 A G 4406.75 PASS AC=2;AF=1.00;AN=2;DB;DP=124;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=4.7284;MQ=58.97;MQ0=0;QD=35.54;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000534202 GT:AD:DP:GQ:PL 1/1:1,123:124:99:4407,328,0
1 207795320 rs2296160 A G 1857.08 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.71;SNPEFF_AMINO_ACID_CHANGE=T1969A;SNPEFF_CODON_CHANGE=Aca/Gca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_207795318_207795341;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CR1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367051 GT:AD:DP:GQ:PL 1/1:0,52:52:99:1890,141,0
1 207803595 rs12034383 G A 114.84 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.95;MQ0=0;QD=28.71;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367049 GT:AD:DP:GQ:PL 1/1:0,4:4:12.03:147,12,0
1 207809605 . C T 42.39 PASS AB=0.588;AC=1;AF=0.50;AN=2;BaseQRankSum=1.356;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=41.81;MQ0=1;MQRankSum=-2.657;QD=2.49;ReadPosRankSum=0.163;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367049 GT:AD:DP:GQ:PL 0/1:10,7:17:72.38:72,0,328
1 207818719 rs11118237 G A 52.94 PASS AB=0.84;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.223;DB;DP=26;Dels=0.0;FS=3.75;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.482;QD=2.04;ReadPosRankSum=-0.704;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367051 GT:AD:DP:GQ:PL 0/1:21,4:26:82.93:83,0,715
1 207826095 rs112964321 C CT 273.19 PASS AB=0.721;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.608;DB;DP=31;FS=2.291;HRun=10;HaplotypeScore=106.7553;IndelType=I;MQ=59.21;MQ0=0;MQRankSum=0.548;QD=8.81;ReadPosRankSum=1.184;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CR1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000444269 GT:AD:DP:GQ:PL 0/1:18,12:31:99:312,0,205
1 207842900 rs4844388 G A 210.48 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.19;MQ0=0;QD=23.39;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CR1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000444269 GT:AD:DP:GQ:PL 1/1:1,8:9:18.06:243,18,0
1 207850539 rs11118328 C T 42.43 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.21;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CR1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000444269 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:74,6,0
1 207850589 rs34451130 A C 33.52 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=8.38;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CR1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000444269 GT:AD:DP:GQ:PL 0/1:2,2:4:63.52:64,0,71
1 207850879 rs34509370 C T 3423.39 PASS AB=0.459;AC=1;AF=0.50;AN=2;BaseQRankSum=0.627;DB;DP=220;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.399;MQ=57.69;MQ0=0;MQRankSum=-0.508;QD=15.56;ReadPosRankSum=-0.54;SNPEFF_AMINO_ACID_CHANGE=N81;SNPEFF_CODON_CHANGE=aaC/aaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_207850734_207850913;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CR1L;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000444269 GT:AD:DP:GQ:PL 0/1:101,119:220:99:3423,0,2961
1 207851361 rs12125256 C T 58.13 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.754;DB;DP=7;Dels=0.0;FS=0.0;HRun=7;HaplotypeScore=0.0;MQ=49.83;MQ0=0;MQRankSum=-0.937;QD=8.3;ReadPosRankSum=-0.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CR1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000444269 GT:AD:DP:GQ:PL 0/1:3,4:7:88.13:88,0,109
1 207851611 rs2296158 A G 2005.18 PASS AB=0.531;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.435;DB;DP=147;Dels=0.0;FS=8.825;HRun=1;HaplotypeScore=0.6651;MQ=59.3;MQ0=0;MQRankSum=1.322;QD=13.64;ReadPosRankSum=1.626;SNPEFF_AMINO_ACID_CHANGE=R116G;SNPEFF_CODON_CHANGE=Aga/Gga;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_207851543_207851642;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CR1L;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000444269 GT:AD:DP:GQ:PL 0/1:78,69:147:99:2035,0,2368
1 207851760 rs2296159 G A 193.98 PASS AB=0.588;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.415;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.244;QD=11.41;ReadPosRankSum=1.122;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CR1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000430248 GT:AD:DP:GQ:PL 0/1:10,7:17:99:224,0,362
1 207857158 rs12411037 T C 1329.57 PASS AB=0.463;AC=1;AF=0.50;AN=2;BaseQRankSum=5.068;DB;DP=82;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=59.85;MQ0=0;MQRankSum=1.256;QD=16.21;ReadPosRankSum=0.943;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CR1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000444269 GT:AD:DP:GQ:PL 0/1:38,44:82:99:1360,0,1241
1 207871320 rs45575738 G C 812.60 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=0.299;DB;DP=80;Dels=0.05;FS=3.82;HRun=0;HaplotypeScore=11.5981;MQ=59.73;MQ0=0;MQRankSum=-0.946;QD=9.67;ReadPosRankSum=0.203;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CR1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000444269 GT:AD:DP:GQ:PL 0/1:43,37:80:99:843,0,1439
1 207872595 rs12729569 A G 1502.59 PASS AB=0.57;AC=1;AF=0.50;AN=2;BaseQRankSum=4.65;DB;DP=142;Dels=0.0;FS=4.431;HRun=2;HaplotypeScore=1.7356;MQ=58.79;MQ0=0;MQRankSum=4.777;QD=10.58;ReadPosRankSum=-1.502;SNPEFF_AMINO_ACID_CHANGE=N402D;SNPEFF_CODON_CHANGE=Aat/Gat;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_207872534_207872619;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CR1L;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000444269 GT:AD:DP:GQ:PL 0/1:81,61:142:99:1533,0,2591
1 207872657 rs12748243 C T 835.54 PASS AB=0.554;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.139;DB;DP=65;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9933;MQ=59.64;MQ0=0;MQRankSum=2.29;QD=12.85;ReadPosRankSum=1.854;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CR1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000444269 GT:AD:DP:GQ:PL 0/1:36,29:65:99:866,0,1168
1 207874704 rs17049197 G A 589.69 PASS AB=0.568;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.564;DB;DP=44;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.18;MQ0=0;MQRankSum=2.204;QD=13.4;ReadPosRankSum=0.19;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CR1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000444269 GT:AD:DP:GQ:PL 0/1:25,19:44:99:620,0,859
1 207874739 rs34828104 C G 1028.28 PASS AB=0.478;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.195;DB;DP=67;Dels=0.0;FS=6.359;HRun=1;HaplotypeScore=0.9578;MQ=58.66;MQ0=0;MQRankSum=-0.559;QD=15.35;ReadPosRankSum=1.199;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CR1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000444269 GT:AD:DP:GQ:PL 0/1:32,35:67:99:1058,0,1063
1 207875175 rs4844614 G T 121.14 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.309;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.135;QD=10.09;ReadPosRankSum=-0.831;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CR1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000444269 GT:AD:DP:GQ:PL 0/1:7,5:12:99:151,0,239
1 207881485 rs11302038 TA T 2053.34 PASS AB=0.674;AC=1;AF=0.50;AN=2;BaseQRankSum=9.404;DB;DP=122;FS=1.975;HRun=1;HaplotypeScore=868.6479;IndelType=D;MQ=55.77;MQ0=0;MQRankSum=-1.04;QD=16.83;ReadPosRankSum=0.931;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CR1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000508064 GT:AD:DP:GQ:PL 0/1:63,59:122:99:2092,0,2583
1 207881489 rs35438924 T G 1569.78 HaplotypeScoreFilter13 AB=0.496;AC=1;AF=0.50;AN=2;BaseQRankSum=5.084;DB;DP=125;Dels=0.01;FS=0.857;HRun=1;HaplotypeScore=58.8846;MQ=55.91;MQ0=0;MQRankSum=-1.716;QD=12.46;ReadPosRankSum=0.057;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CR1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000508064 GT:AD:DP:GQ:PL 0/1:62,63:125:99:1600,0,1898
1 207881491 rs34277355 C A 1564.24 HaplotypeScoreFilter13 AB=0.488;AC=1;AF=0.50;AN=2;BaseQRankSum=2.226;DB;DP=127;Dels=0.0;FS=0.835;HRun=1;HaplotypeScore=58.8846;MQ=55.94;MQ0=0;MQRankSum=-0.818;QD=12.32;ReadPosRankSum=-0.089;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CR1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000508064 GT:AD:DP:GQ:PL 0/1:62,65:127:99:1594,0,1973
1 207881557 rs6683902 A G 2885.92 PASS AB=0.497;AC=1;AF=0.50;AN=2;BaseQRankSum=3.583;DB;DP=185;Dels=0.0;FS=5.238;HRun=0;HaplotypeScore=3.1367;MQ=56.92;MQ0=0;MQRankSum=-1.61;QD=15.6;ReadPosRankSum=0.034;SNPEFF_AMINO_ACID_CHANGE=I455V;SNPEFF_CODON_CHANGE=Atc/Gtc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_207881523_207881608;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CR1L;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000508064 GT:AD:DP:GQ:PL 0/1:92,93:185:99:2916,0,2522
1 207883907 rs3927459 T G 2751.96 PASS AB=0.532;AC=1;AF=0.50;AN=2;BaseQRankSum=5.15;DB;DP=205;Dels=0.0;FS=3.967;HRun=2;HaplotypeScore=1.7882;MQ=59.52;MQ0=0;MQRankSum=-0.158;QD=13.42;ReadPosRankSum=0.714;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CR1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000508064 GT:AD:DP:GQ:PL 0/1:109,96:205:99:2782,0,3444
1 207884105 rs10779386 C A 1651.15 PASS AB=0.454;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.746;DB;DP=108;Dels=0.0;FS=0.845;HRun=0;HaplotypeScore=1.6918;MQ=59.52;MQ0=0;MQRankSum=0.599;QD=15.29;ReadPosRankSum=-0.42;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CR1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000508064 GT:AD:DP:GQ:PL 0/1:49,59:108:99:1681,0,1560
1 207884107 rs10779387 G A 1712.52 PASS AB=0.458;AC=1;AF=0.50;AN=2;BaseQRankSum=1.66;DB;DP=107;Dels=0.0;FS=0.856;HRun=0;HaplotypeScore=2.625;MQ=59.52;MQ0=0;MQRankSum=0.072;QD=16.0;ReadPosRankSum=-0.31;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CR1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000508064 GT:AD:DP:GQ:PL 0/1:49,58:107:99:1743,0,1569
1 207884287 rs12132176 A T 109.92 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.361;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.39;MQ0=0;MQRankSum=1.881;QD=12.21;ReadPosRankSum=0.361;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CR1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000530905 GT:AD:DP:GQ:PL 0/1:5,4:9:99:140,0,159
1 207884292 rs12132968 T C 67.41 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=0.322;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.05;MQ0=0;MQRankSum=0.322;QD=8.43;ReadPosRankSum=0.956;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CR1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000530905 GT:AD:DP:GQ:PL 0/1:5,3:8:97.40:97,0,125
1 207888626 rs6677310 C T 701 PASS AB=0.519;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.044;DB;DP=52;Dels=0.0;FS=2.204;HRun=0;HaplotypeScore=5.3265;MQ=55.71;MQ0=0;MQRankSum=-2.497;QD=13.48;ReadPosRankSum=-1.498;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CR1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000530905 GT:AD:DP:GQ:PL 0/1:27,25:52:99:731,0,908
1 207888704 rs2796255 T C 1179.32 PASS AB=0.509;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.124;DB;DP=108;Dels=0.0;FS=0.765;HRun=0;HaplotypeScore=0.8321;MQ=52.89;MQ0=0;MQRankSum=-4.363;QD=10.92;ReadPosRankSum=0.988;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CR1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000530905 GT:AD:DP:GQ:PL 0/1:55,53:108:99:1209,0,1457
1 207888739 rs7553211 G T 1329.75 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.853;DB;DP=91;Dels=0.0;FS=2.005;HRun=1;HaplotypeScore=0.8667;MQ=51.93;MQ0=0;MQRankSum=4.82;QD=14.61;ReadPosRankSum=2.659;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CR1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000530905 GT:AD:DP:GQ:PL 0/1:42,48:91:99:1360,0,1064
1 207888760 rs2796261 C T 610.92 PASS AB=0.581;AC=1;AF=0.50;AN=2;BaseQRankSum=6.004;DB;DP=74;Dels=0.0;FS=3.001;HRun=0;HaplotypeScore=0.8941;MQ=50.79;MQ0=0;MQRankSum=-4.748;QD=8.26;ReadPosRankSum=-2.371;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CR1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000530905 GT:AD:DP:GQ:PL 0/1:43,31:74:99:641,0,1246
1 207890568 rs3849268 G A 129.55 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=49.84;MQ0=0;QD=32.39;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CR1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000508064 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:162,12,0
1 207890866 rs2796257 T C 1817.68 PASS AB=0.49;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.816;DB;DP=155;Dels=0.0;FS=1.276;HRun=4;HaplotypeScore=0.9332;MQ=58.79;MQ0=0;MQRankSum=1.144;QD=11.73;ReadPosRankSum=-1.465;SNPEFF_AMINO_ACID_CHANGE=L491P;SNPEFF_CODON_CHANGE=cTt/cCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_207890809_207891036;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CR1L;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000508064 GT:AD:DP:GQ:PL 0/1:76,79:155:99:1848,0,2399
1 207925361 rs41266397 C G 42.28 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.92;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=54.65;MQ0=0;MQRankSum=0.684;QD=4.7;ReadPosRankSum=1.221;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD46;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000322875 GT:AD:DP:GQ:PL 0/1:5,4:9:72.27:72,0,175
1 207930203 rs2724384 G A 91.07 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD46;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000322875 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:123,9,0
1 207934487 rs2466572 A C 226.60 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=53.03;MQ0=0;QD=32.37;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD46;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000493796 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:260,21,0
1 207934553 rs41258244 A T 140.66 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=2.149;DB;DP=20;Dels=0.0;FS=5.006;HRun=2;HaplotypeScore=0.0;MQ=59.06;MQ0=0;MQRankSum=-0.044;QD=7.03;ReadPosRankSum=-1.447;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD46;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000493796 GT:AD:DP:GQ:PL 0/1:14,6:20:99:171,0,470
1 207941191 rs2724374 G T 1343.81 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.8667;MQ=59.53;MQ0=0;QD=27.42;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD46;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464082 GT:AD:DP:GQ:PL 1/1:0,49:49:99:1377,105,0
1 207956559 rs1962149 G A 205.09 PASS AB=0.632;AC=1;AF=0.50;AN=2;BaseQRankSum=2.071;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=0.718;QD=10.79;ReadPosRankSum=1.817;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD46;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000322875 GT:AD:DP:GQ:PL 0/1:12,7:19:99:235,0,417
1 207959122 rs67225546 CT C 49.31 PASS AC=2;AF=1.00;AN=2;DB;DP=23;FS=0.0;HRun=14;HaplotypeScore=190.0876;IndelType=D;MQ=50.2;MQ0=0;QD=2.14;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD46;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000490278 GT:AD:DP:GQ:PL 1/1:9,12:23:27.85:91,28,0
1 207975681 rs141961287 G GT 227.48 PASS AB=0.632;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.793;DB;DP=12;FS=0.0;HRun=2;HaplotypeScore=23.2744;IndelType=I;MQ=60.0;MQ0=0;MQRankSum=1.635;QD=18.96;ReadPosRankSum=0.38;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=MIR29B2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000385055 GT:AD:DP:GQ:PL 0/1:5,7:12:99:267,0,150
1 208041366 rs74821401 T C 109.05 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.26;SNPEFF_EFFECT=INTRAGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C1orf132;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 1/1:0,4:4:12.03:142,12,0
1 208050484 rs2745946 T C 89.81 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=44.1;MQ0=0;QD=17.96;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=RP11-328D5.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000435542 GT:AD:DP:GQ:PL 1/1:0,5:5:12.02:122,12,0
1 208050487 rs2785640 G C 92.66 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=39.12;MQ0=0;QD=23.16;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=RP11-328D5.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000435542 GT:AD:DP:GQ:PL 1/1:0,4:4:12.03:125,12,0
1 208062260 rs2745952 T C 1664.62 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.29;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CD34;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310833 GT:AD:DP:GQ:PL 1/1:0,50:50:99:1698,132,0
1 208062973 rs2745953 A T 874.91 PASS AB=0.593;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.974;DB;DP=81;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9998;MQ=59.43;MQ0=0;MQRankSum=1.072;QD=10.8;ReadPosRankSum=-0.476;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CD34;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310833 GT:AD:DP:GQ:PL 0/1:48,33:81:99:905,0,1513
1 208063067 rs2179634 G A 3016.06 PASS AC=2;AF=1.00;AN=2;DB;DP=89;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9159;MQ=59.22;MQ0=0;QD=33.89;SNPEFF_AMINO_ACID_CHANGE=A39V;SNPEFF_CODON_CHANGE=gCg/gTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_208063060_208063837;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CD34;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367036 GT:AD:DP:GQ:PL 1/1:0,88:89:99:3049,229,0
1 208072697 rs2724368 G A 469.86 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.56;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CD34;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310833 GT:AD:DP:GQ:PL 1/1:0,14:14:42.08:503,42,0
1 208072738 rs2724369 A C 201.31 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.16;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CD34;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310833 GT:AD:DP:GQ:PL 1/1:0,8:8:18.06:234,18,0
1 208204794 rs111796005 CTGTT C 200.94 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=6;FS=0.0;HRun=0;HaplotypeScore=30.7358;IndelType=D;MQ=49.37;MQ0=0;MQRankSum=0.736;QD=33.49;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXNA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367033 GT:AD:DP:GQ:PL 0/1:1,5:6:62.03:240,0,62
1 208206394 rs1193091 A G 71.33 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.78;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXNA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367033 GT:AD:DP:GQ:PL 1/1:0,3:3:9.02:103,9,0
1 208206946 rs6702082 C G 36.71 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.026;QD=9.18;ReadPosRankSum=1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXNA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367033 GT:AD:DP:GQ:PL 0/1:2,2:4:58.37:67,0,58
1 208207839 rs3736963 G A 424.16 PASS AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=2.583;DB;DP=18;Dels=0.0;FS=2.884;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.315;QD=23.56;ReadPosRankSum=0.819;SNPEFF_AMINO_ACID_CHANGE=Y1621;SNPEFF_CODON_CHANGE=taC/taT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_208207838_208207937;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXNA2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367033 GT:AD:DP:GQ:PL 0/1:3,15:18:56.71:454,0,57
1 208211887 rs905100 T C 493.65 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.33;MQ0=0;QD=35.26;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXNA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463510 GT:AD:DP:GQ:PL 1/1:0,14:14:39.13:527,39,0
1 208212397 rs2767566 A G 125.89 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=1.733;DB;DP=14;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.267;QD=8.99;ReadPosRankSum=1.067;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXNA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367033 GT:AD:DP:GQ:PL 0/1:9,5:14:99:156,0,313
1 208213125 rs1751580 A G 1283.15 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.6651;MQ=58.71;MQ0=0;QD=35.64;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXNA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367033 GT:AD:DP:GQ:PL 1/1:0,36:36:99:1316,99,0
1 208219164 rs1536471 A C 689.76 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.124;DB;DP=54;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=-0.554;QD=12.77;ReadPosRankSum=0.917;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXNA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367033 GT:AD:DP:GQ:PL 0/1:27,27:54:99:720,0,902
1 208252489 rs2274445 T C 79.18 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9995;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=15.84;ReadPosRankSum=-0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXNA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367033 GT:AD:DP:GQ:PL 0/1:2,3:5:63.39:109,0,63
1 208255877 rs6540453 T C 597.19 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.84;MQ0=0;QD=29.86;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXNA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367033 GT:AD:DP:GQ:PL 1/1:0,20:20:51.16:630,51,0
1 208258102 rs10159299 T C 49.83 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=16.61;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXNA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367033 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:81,6,0
1 208300491 rs681241 T G 528.14 PASS AB=0.393;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.223;DB;DP=28;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.8;QD=18.86;ReadPosRankSum=-1.882;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXNA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367033 GT:AD:DP:GQ:PL 0/1:11,17:28:99:558,0,370
1 208300619 rs10666701 T TAC 3530.33 PASS AC=2;AF=1.00;AN=2;DB;DP=85;FS=0.0;HRun=0;HaplotypeScore=213.0258;IndelType=I;MQ=60.56;MQ0=0;QD=41.05;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXNA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367033 GT:AD:DP:GQ:PL 1/1:14,71:85:99:3530,211,0
1 208390086 rs1664227 G C 434.24 PASS AB=0.517;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.546;DB;DP=29;Dels=0.0;FS=12.187;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.069;QD=14.97;ReadPosRankSum=1.069;SNPEFF_AMINO_ACID_CHANGE=T394;SNPEFF_CODON_CHANGE=acC/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_208390080_208391347;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXNA2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367033 GT:AD:DP:GQ:PL 0/1:15,14:29:99:464,0,425
1 208391085 rs12120681 G A 1559.70 PASS AB=0.465;AC=1;AF=0.50;AN=2;BaseQRankSum=4.756;DB;DP=99;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=59.06;MQ0=0;MQRankSum=-1.096;QD=15.75;ReadPosRankSum=-0.148;SNPEFF_AMINO_ACID_CHANGE=A61;SNPEFF_CODON_CHANGE=gcC/gcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_208390080_208391347;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXNA2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367033 GT:AD:DP:GQ:PL 0/1:46,53:99:99:1590,0,1159
1 208391254 rs2782948 C T 359.74 PASS AB=0.389;AC=1;AF=0.50;AN=2;BaseQRankSum=3.079;DB;DP=18;Dels=0.0;FS=2.772;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.449;QD=19.99;ReadPosRankSum=-0.996;SNPEFF_AMINO_ACID_CHANGE=R5Q;SNPEFF_CODON_CHANGE=cGg/cAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_208390080_208391347;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXNA2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367033 GT:AD:DP:GQ:PL 0/1:7,11:18:99:390,0,176
1 208871055 rs1166871 G T 933.64 PASS AB=0.414;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.4;DB;DP=58;Dels=0.0;FS=5.498;HRun=0;HaplotypeScore=0.6651;MQ=59.7;MQ0=0;MQRankSum=0.533;QD=16.1;ReadPosRankSum=-2.715;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP11-459K23.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000419030 GT:AD:DP:GQ:PL 0/1:24,34:58:99:964,0,753
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1 209779805 rs880783 G A 799.72 PASS AB=0.432;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.624;DB;DP=44;Dels=0.0;FS=8.157;HRun=1;HaplotypeScore=0.0;MQ=59.48;MQ0=0;MQRankSum=-0.159;QD=18.18;ReadPosRankSum=0.917;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAMK1G;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000009105 GT:AD:DP:GQ:PL 0/1:19,25:44:99:830,0,592
1 209782343 rs11119314 A G 388.58 PASS AB=0.729;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.214;DB;DP=71;Dels=0.0;FS=2.505;HRun=0;HaplotypeScore=0.0;MQ=59.15;MQ0=0;MQRankSum=-0.276;QD=5.47;ReadPosRankSum=-0.375;SNPEFF_AMINO_ACID_CHANGE=H193R;SNPEFF_CODON_CHANGE=cAt/cGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_209782325_209782437;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAMK1G;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000423146 GT:AD:DP:GQ:PL 0/1:51,19:71:99:419,0,1588
1 209784663 rs10746421 A C 38.60 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=12.87;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAMK1G;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000423146 GT:AD:DP:GQ:PL 0/1:1,2:3:30.98:69,0,31
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1 209785011 rs2076226 G C 289.83 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=2.503;DB;DP=26;Dels=0.0;FS=1.85;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.237;QD=11.15;ReadPosRankSum=1.818;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAMK1G;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000423146 GT:AD:DP:GQ:PL 0/1:16,10:26:99:320,0,442
1 209785957 rs2272879 T G 167.19 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.44;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAMK1G;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000423146 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:200,15,0
1 209786078 rs2272880 G A 183.53 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=1.517;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.779;QD=14.12;ReadPosRankSum=0.467;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAMK1G;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000423146 GT:AD:DP:GQ:PL 0/1:7,6:13:99:214,0,160
1 209788703 rs1049607 T C 529.78 PASS AB=0.543;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.419;DB;DP=47;Dels=0.0;FS=2.623;HRun=1;HaplotypeScore=1.4725;MQ=58.51;MQ0=0;MQRankSum=-0.176;QD=11.27;ReadPosRankSum=-0.772;SNPEFF_AMINO_ACID_CHANGE=S1144;SNPEFF_CODON_CHANGE=tcA/tcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_209788237_209788752;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMB3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000356082 GT:AD:DP:GQ:PL 0/1:25,21:47:99:560,0,695
1 209792015 rs5780528 A AC 677.44 PASS AC=2;AF=1.00;AN=2;DB;DP=16;FS=0.0;HRun=1;HaplotypeScore=42.3163;IndelType=I;MQ=61.34;MQ0=0;QD=42.34;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAMK1G;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000009105 GT:AD:DP:GQ:PL 1/1:0,16:16:48.16:719,48,0
1 209795909 rs3179860 T C 706 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=4.025;DB;DP=66;Dels=0.0;FS=8.052;HRun=0;HaplotypeScore=0.9997;MQ=59.3;MQ0=0;MQRankSum=0.647;QD=10.7;ReadPosRankSum=-0.022;SNPEFF_AMINO_ACID_CHANGE=L891;SNPEFF_CODON_CHANGE=ctA/ctG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_209795881_209796025;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMB3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000356082 GT:AD:DP:GQ:PL 0/1:40,24:66:99:736,0,1145
1 209796329 rs12748250 T A 1069.07 PASS AB=0.356;AC=1;AF=0.50;AN=2;BaseQRankSum=1.537;DB;DP=60;Dels=0.0;FS=1.059;HRun=1;HaplotypeScore=2.1445;MQ=59.23;MQ0=0;MQRankSum=-0.971;QD=17.82;ReadPosRankSum=0.76;SNPEFF_AMINO_ACID_CHANGE=M852L;SNPEFF_CODON_CHANGE=Atg/Ttg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_209796327_209796524;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMB3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000356082 GT:AD:DP:GQ:PL 0/1:21,38:60:99:1099,0,599
1 209798771 rs9430008 G A 134.12 PASS AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=22.35;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMB3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356082 GT:AD:DP:GQ:PL 0/1:1,5:6:18.93:164,0,19
1 209798824 rs4844860 A G 177.83 PASS AB=0.64;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.821;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.274;QD=7.11;ReadPosRankSum=-0.764;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMB3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356082 GT:AD:DP:GQ:PL 0/1:16,9:25:99:208,0,583
1 209799253 rs2179402 A G 517.30 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.33;SNPEFF_AMINO_ACID_CHANGE=C572;SNPEFF_CODON_CHANGE=tgT/tgC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_209798993_209799371;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMB3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000356082 GT:AD:DP:GQ:PL 1/1:0,16:16:42.13:550,42,0
1 209803163 rs114875539 C T 1123.59 PASS AB=0.422;AC=1;AF=0.50;AN=2;BaseQRankSum=0.947;DB;DP=64;Dels=0.0;FS=2.241;HRun=2;HaplotypeScore=0.0;MQ=59.28;MQ0=0;MQRankSum=-0.287;QD=17.56;ReadPosRankSum=0.717;SNPEFF_AMINO_ACID_CHANGE=E351K;SNPEFF_CODON_CHANGE=Gaa/Aaa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_209803082_209803270;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMB3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000356082 GT:AD:DP:GQ:PL 0/1:27,37:64:99:1154,0,680
1 209804095 rs4844863 G A 1049.79 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.25;MQ0=0;QD=33.86;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMB3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000415782 GT:AD:DP:GQ:PL 1/1:0,31:31:81.24:1083,81,0
1 209807972 rs1130667 G A 78.59 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.754;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.3;QD=11.23;ReadPosRankSum=-1.3;SNPEFF_AMINO_ACID_CHANGE=P128;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_209807792_209807983;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMB3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000356082 GT:AD:DP:GQ:PL 0/1:3,4:7:99:109,0,110
1 209811829 rs2076355 A T 1302.57 PASS AB=0.415;AC=1;AF=0.50;AN=2;BaseQRankSum=1.919;DB;DP=82;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.54;MQ0=0;MQRankSum=1.421;QD=15.88;ReadPosRankSum=0.445;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMB3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356082 GT:AD:DP:GQ:PL 0/1:34,48:82:99:1333,0,940
1 209811886 rs2076356 T G 1219.83 PASS AB=0.575;AC=1;AF=0.50;AN=2;BaseQRankSum=2.796;DB;DP=107;Dels=0.0;FS=3.646;HRun=1;HaplotypeScore=3.6255;MQ=59.65;MQ0=0;MQRankSum=-1.198;QD=11.4;ReadPosRankSum=-1.179;SNPEFF_AMINO_ACID_CHANGE=S97;SNPEFF_CODON_CHANGE=tcA/tcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_209811879_209811993;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMB3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000356082 GT:AD:DP:GQ:PL 0/1:61,45:107:99:1250,0,1845
1 209812063 rs2076357 T C 360.96 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMB3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356082 GT:AD:DP:GQ:PL 1/1:0,10:10:30.10:394,30,0
1 209823354 rs3764781 G A 402.33 PASS AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=1.204;DB;DP=38;Dels=0.0;FS=1.302;HRun=1;HaplotypeScore=0.0;MQ=58.16;MQ0=0;MQRankSum=0.29;QD=10.59;ReadPosRankSum=-2.636;SNPEFF_AMINO_ACID_CHANGE=T46;SNPEFF_CODON_CHANGE=acC/acT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_209823309_209823463;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMB3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000356082 GT:AD:DP:GQ:PL 0/1:20,18:38:99:432,0,688
1 209824099 rs2076360 G C 218.50 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=3.204;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.421;QD=15.61;ReadPosRankSum=-0.201;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMB3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356082 GT:AD:DP:GQ:PL 0/1:7,7:14:99:248,0,215
1 209849002 rs3817870 T C 51.32 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.11;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_1_209848998_209849733;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=G0S2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367029 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:83,6,0
1 209849399 rs3830766 AG A 377.83 PASS AC=2;AF=1.00;AN=2;DB;DP=10;FS=0.0;HRun=1;HaplotypeScore=64.1144;IndelType=D;MQ=60.0;MQ0=0;QD=37.78;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=G0S2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367029 GT:AD:DP:GQ:PL 1/1:0,10:10:30.10:420,30,0
1 209849406 rs1473683 T G 331.39 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.13;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=G0S2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367029 GT:AD:DP:GQ:PL 1/1:0,11:11:27.09:364,27,0
1 209880216 rs77382927 C CA 1097.06 PASS AB=0.63;AC=1;AF=0.50;AN=2;BaseQRankSum=0.394;DB;DP=51;FS=1.186;HRun=2;HaplotypeScore=169.9359;IndelType=I;MQ=60.63;MQ0=0;MQRankSum=-1.416;QD=21.51;ReadPosRankSum=0.884;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HSD11B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000261465 GT:AD:DP:GQ:PL 0/1:21,30:51:99:1136,0,518
1 209880259 rs12086634 T G 846.83 PASS AB=0.464;AC=1;AF=0.50;AN=2;BaseQRankSum=0.912;DB;DP=56;Dels=0.0;FS=0.995;HRun=1;HaplotypeScore=0.0;MQ=60.39;MQ0=0;MQRankSum=0.518;QD=15.12;ReadPosRankSum=-0.271;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HSD11B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000261465 GT:AD:DP:GQ:PL 0/1:26,30:56:99:877,0,761
1 209880508 rs72201436 GA G 208.22 PASS AB=0.633;AC=1;AF=0.50;AN=2;BaseQRankSum=2.122;DB;DP=19;FS=0.0;HRun=11;HaplotypeScore=57.8412;IndelType=D;MQ=58.78;MQ0=0;MQRankSum=-0.303;QD=10.96;ReadPosRankSum=0.303;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HSD11B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000261465 GT:AD:DP:GQ:PL 0/1:8,11:19:80.03:247,0,80
1 209905734 rs932335 G C 592.01 PASS AB=0.37;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.08;DB;DP=27;Dels=0.0;FS=4.314;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.126;QD=21.93;ReadPosRankSum=-0.728;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HSD11B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000261465 GT:AD:DP:GQ:PL 0/1:10,17:27:99:622,0,341
1 209933331 rs6685077 A G 191.46 PASS AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.245;DB;DP=19;Dels=0.0;FS=2.017;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.531;QD=10.08;ReadPosRankSum=0.531;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_1_209933327_209933729;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRAF3IP3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367024 GT:AD:DP:GQ:PL 0/1:10,9:19:99:221,0,330
1 209933540 rs2076150 A G 148.84 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.7;DB;DP=24;Dels=0.0;FS=4.675;HRun=0;HaplotypeScore=0.9894;MQ=60.0;MQ0=0;MQRankSum=-0.367;QD=6.2;ReadPosRankSum=0.233;SNPEFF_AMINO_ACID_CHANGE=Q52;SNPEFF_CODON_CHANGE=caA/caG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_209933385_209933669;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRAF3IP3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000010338 GT:AD:DP:GQ:PL 0/1:18,6:24:99:179,0,527
1 209935778 rs10489342 A G 238.19 PASS AB=0.542;AC=1;AF=0.50;AN=2;BaseQRankSum=0.058;DB;DP=24;Dels=0.0;FS=3.171;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.232;QD=9.92;ReadPosRankSum=-0.174;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRAF3IP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479796 GT:AD:DP:GQ:PL 0/1:13,11:24:99:268,0,436
1 209936466 rs7548219 A G 305.62 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.797;DB;DP=26;Dels=0.0;FS=1.623;HRun=0;HaplotypeScore=0.0;MQ=59.11;MQ0=0;MQRankSum=-0.694;QD=11.75;ReadPosRankSum=2.392;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRAF3IP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468672 GT:AD:DP:GQ:PL 0/1:12,14:26:99:336,0,386
1 209936571 rs6540555 A G 317.80 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.025;DB;DP=21;Dels=0.0;FS=4.01;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.675;QD=15.13;ReadPosRankSum=0.178;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRAF3IP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468672 GT:AD:DP:GQ:PL 0/1:9,12:21:99:348,0,310
1 209936631 rs6540556 G A 439.79 PASS AB=0.464;AC=1;AF=0.50;AN=2;BaseQRankSum=2.257;DB;DP=28;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.23;QD=15.71;ReadPosRankSum=0.184;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRAF3IP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468672 GT:AD:DP:GQ:PL 0/1:13,15:28:99:470,0,394
1 209936673 rs7536882 C G 810.77 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.462;DB;DP=50;Dels=0.0;FS=18.07;HRun=0;HaplotypeScore=1.5757;MQ=59.07;MQ0=0;MQRankSum=-4.196;QD=16.22;ReadPosRankSum=-0.031;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRAF3IP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468672 GT:AD:DP:GQ:PL 0/1:20,30:50:99:841,0,654
1 209936914 rs17015169 C T 464.01 PASS AB=0.464;AC=1;AF=0.50;AN=2;BaseQRankSum=1.336;DB;DP=28;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.33;MQ0=0;MQRankSum=0.23;QD=16.57;ReadPosRankSum=-1.382;SNPEFF_AMINO_ACID_CHANGE=A208;SNPEFF_CODON_CHANGE=gcC/gcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_209936837_209936932;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRAF3IP3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000010338 GT:AD:DP:GQ:PL 0/1:13,15:28:99:494,0,376
1 209936964 rs34406510 T TCA 461.96 PASS AB=0.64;AC=1;AF=0.50;AN=2;BaseQRankSum=1.059;DB;DP=16;FS=0.0;HRun=0;HaplotypeScore=64.1164;IndelType=I;MQ=60.67;MQ0=0;MQRankSum=0.953;QD=28.87;ReadPosRankSum=0.741;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRAF3IP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468672 GT:AD:DP:GQ:PL 0/1:7,9:16:99:501,0,295
1 209950681 rs649275 T C 412.60 PASS AB=0.61;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.451;DB;DP=59;Dels=0.0;FS=7.558;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.385;QD=6.99;ReadPosRankSum=-2.024;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf74;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294811 GT:AD:DP:GQ:PL 0/1:36,23:59:99:443,0,1206
1 209950760 rs669694 C G 689.25 PASS AB=0.475;AC=1;AF=0.50;AN=2;BaseQRankSum=0.163;DB;DP=40;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9958;MQ=58.84;MQ0=0;MQRankSum=0.379;QD=17.23;ReadPosRankSum=0.406;SNPEFF_AMINO_ACID_CHANGE=Q109E;SNPEFF_CODON_CHANGE=Caa/Gaa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_209950697_209950832;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRAF3IP3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367023 GT:AD:DP:GQ:PL 0/1:19,21:40:99:719,0,580
1 209953706 rs11590807 C T 711.42 PASS AB=0.49;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.479;DB;DP=49;Dels=0.0;FS=4.59;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=2.756;QD=14.52;ReadPosRankSum=-0.5;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf74;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294811 GT:AD:DP:GQ:PL 0/1:24,25:49:99:741,0,763
1 209965587 rs2235375 G C 597.05 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=2.442;DB;DP=49;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.8332;MQ=59.53;MQ0=0;MQRankSum=-0.592;QD=12.18;ReadPosRankSum=2.227;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IRF6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367021 GT:AD:DP:GQ:PL 0/1:28,20:49:99:627,0,749
1 209968684 rs2013162 C A 584.31 PASS AB=0.542;AC=1;AF=0.50;AN=2;BaseQRankSum=1.985;DB;DP=48;Dels=0.0;FS=4.286;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=12.17;ReadPosRankSum=0.529;SNPEFF_AMINO_ACID_CHANGE=S153;SNPEFF_CODON_CHANGE=tcG/tcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_209968635_209968763;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IRF6;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367021 GT:AD:DP:GQ:PL 0/1:26,22:48:99:614,0,707
1 209969902 rs7552506 G C 530.28 PASS AB=0.393;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.176;DB;DP=28;Dels=0.0;FS=3.886;HRun=0;HaplotypeScore=0.8321;MQ=58.5;MQ0=0;MQRankSum=0.0;QD=18.94;ReadPosRankSum=1.176;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IRF6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367021 GT:AD:DP:GQ:PL 0/1:11,17:28:99:560,0,333
1 210001233 rs661849 C T 35.77 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.026;QD=8.94;ReadPosRankSum=0.0;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DIEXF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491415 GT:AD:DP:GQ:PL 0/1:2,2:4:65.76:66,0,71
1 210001543 rs12404886 A T 283.95 PASS AB=0.565;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.884;DB;DP=23;Dels=0.0;FS=3.617;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.651;QD=12.35;ReadPosRankSum=-0.217;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DIEXF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491415 GT:AD:DP:GQ:PL 0/1:13,10:23:99:314,0,475
1 210003402 rs599649 T C 452.60 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.371;DB;DP=30;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.026;QD=15.09;ReadPosRankSum=-0.633;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DIEXF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491415 GT:AD:DP:GQ:PL 0/1:14,16:30:99:483,0,467
1 210004199 rs585627 C G 651.20 PASS AB=0.646;AC=1;AF=0.50;AN=2;BaseQRankSum=0.899;DB;DP=65;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.8136;MQ=59.07;MQ0=0;MQRankSum=-0.281;QD=10.02;ReadPosRankSum=0.391;SNPEFF_AMINO_ACID_CHANGE=Q67E;SNPEFF_CODON_CHANGE=Caa/Gaa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_210004148_210004388;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DIEXF;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000491415 GT:AD:DP:GQ:PL 0/1:42,23:65:99:681,0,1428
1 210004613 rs627069 C G 43.90 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=14.63;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DIEXF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491415 GT:AD:DP:GQ:PL 0/1:1,2:3:17.65:74,0,18
1 210006603 rs656566 C T 414.66 PASS AB=0.448;AC=1;AF=0.50;AN=2;BaseQRankSum=1.206;DB;DP=29;Dels=0.0;FS=1.786;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.338;QD=14.3;ReadPosRankSum=-0.724;SNPEFF_AMINO_ACID_CHANGE=P154;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_210006530_210006703;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DIEXF;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000491415 GT:AD:DP:GQ:PL 0/1:13,16:29:99:445,0,443
1 210008367 rs685248 C G 128 PASS AB=0.684;AC=1;AF=0.50;AN=2;BaseQRankSum=1.535;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.01;MQ0=0;MQRankSum=-1.009;QD=6.74;ReadPosRankSum=1.535;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DIEXF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491415 GT:AD:DP:GQ:PL 0/1:13,6:19:99:158,0,483
1 210008374 rs41274838 C T 142.63 PASS AB=0.65;AC=1;AF=0.50;AN=2;BaseQRankSum=1.981;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.06;MQ0=0;MQRankSum=-1.743;QD=7.13;ReadPosRankSum=0.158;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DIEXF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491415 GT:AD:DP:GQ:PL 0/1:13,7:20:99:173,0,477
1 210008673 rs686582 T G 177.72 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.633;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.365;QD=17.77;ReadPosRankSum=-0.741;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DIEXF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491415 GT:AD:DP:GQ:PL 0/1:4,6:10:99:208,0,138
1 210012102 rs1962735 A G 387.58 PASS AB=0.567;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.553;DB;DP=30;Dels=0.0;FS=3.632;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.46;QD=12.92;ReadPosRankSum=-0.628;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DIEXF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491415 GT:AD:DP:GQ:PL 0/1:17,13:30:99:418,0,621
1 210014093 rs654470 A T 194.97 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.103;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.473;QD=12.19;ReadPosRankSum=0.893;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DIEXF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491415 GT:AD:DP:GQ:PL 0/1:8,8:16:99:225,0,282
1 210015568 rs10570454 GCT G 292.80 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=1.684;DB;DP=18;FS=3.274;HRun=0;HaplotypeScore=70.2364;IndelType=D;MQ=60.17;MQ0=0;MQRankSum=-0.048;QD=16.27;ReadPosRankSum=-0.433;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DIEXF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491415 GT:AD:DP:GQ:PL 0/1:9,9:18:99:332,0,389
1 210111733 rs12025114 G A 37.96 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=12.65;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SYT14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367019 GT:AD:DP:GQ:PL 0/1:1,2:3:30.98:68,0,31
1 210125948 . CTT C 292.25 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=2.391;DP=18;FS=0.0;HRun=7;HaplotypeScore=61.8237;IndelType=D;MQ=58.96;MQ0=0;MQRankSum=-0.927;QD=16.24;ReadPosRankSum=-1.122;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SYT14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367019 GT:AD:DP:GQ:PL 0/1:8,10:18:99:331,0,316
1 210267893 rs144713062 TGAA T 419.87 PASS AB=0.755;AC=1;AF=0.50;AN=2;BaseQRankSum=3.607;DB;DP=37;FS=0.0;HRun=0;HaplotypeScore=143.3859;IndelType=D;MQ=58.41;MQ0=0;MQRankSum=0.117;QD=11.35;ReadPosRankSum=-0.755;SNPEFF_AMINO_ACID_CHANGE=E186-;SNPEFF_CODON_CHANGE=gaa/-;SNPEFF_EFFECT=CODON_DELETION;SNPEFF_EXON_ID=exon_1_210267667_210267938;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SYT14;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000367015 GT:AD:DP:GQ:PL 0/1:25,12:37:99:459,0,1477
1 210273886 rs2494187 A T 134.74 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.271;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.381;QD=9.62;ReadPosRankSum=-0.978;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SYT14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367015 GT:AD:DP:GQ:PL 0/1:9,5:14:99:165,0,289
1 210334081 rs17188183 T C 414.77 PASS AB=0.516;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.652;DB;DP=31;Dels=0.0;FS=2.222;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.85;QD=13.38;ReadPosRankSum=-1.166;SNPEFF_AMINO_ACID_CHANGE=Y416;SNPEFF_CODON_CHANGE=taT/taC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_210334074_210337636;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SYT14;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367015 GT:AD:DP:GQ:PL 0/1:16,15:31:99:445,0,537
1 210536078 rs2294848 C G 295.21 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.9;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HHAT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000261458 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:328,24,0
1 210577873 rs2066721 G C 1467.99 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.95;SNPEFF_AMINO_ACID_CHANGE=L113;SNPEFF_CODON_CHANGE=ctG/ctC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_210577808_210578023;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HHAT;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000537898 GT:AD:DP:GQ:PL 1/1:0,42:42:99:1501,111,0
1 210591742 rs3215542 TG T 65.08 PASS AB=0.8;AC=1;AF=0.50;AN=2;BaseQRankSum=2.824;DB;DP=20;FS=0.0;HRun=6;HaplotypeScore=48.4632;IndelType=D;MQ=60.0;MQ0=0;MQRankSum=0.972;QD=3.25;ReadPosRankSum=-0.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HHAT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000261458 GT:AD:DP:GQ:PL 0/1:15,5:20:99:104,0,492
1 210686570 rs4545340 A G 417.69 PASS AB=0.543;AC=1;AF=0.50;AN=2;BaseQRankSum=2.268;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=2.401;QD=11.93;ReadPosRankSum=-0.579;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HHAT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000261458 GT:AD:DP:GQ:PL 0/1:19,16:35:99:448,0,606
1 210686614 rs12142231 A G 326.77 PASS AB=0.474;AC=1;AF=0.50;AN=2;BaseQRankSum=0.939;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=0.939;QD=17.2;ReadPosRankSum=0.612;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HHAT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000261458 GT:AD:DP:GQ:PL 0/1:9,10:19:99:357,0,311
1 210761462 rs4297293 G C 459.94 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.33;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HHAT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000261458 GT:AD:DP:GQ:PL 1/1:0,12:12:36.12:493,36,0
1 210804430 rs4951682 G A 473.89 PASS AB=0.414;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.694;DB;DP=29;Dels=0.0;FS=3.123;HRun=0;HaplotypeScore=1.6208;MQ=59.2;MQ0=0;MQRankSum=-0.487;QD=16.34;ReadPosRankSum=-0.441;SNPEFF_AMINO_ACID_CHANGE=V494I;SNPEFF_CODON_CHANGE=Gta/Ata;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_210804341_210804507;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HHAT;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000391905 GT:AD:DP:GQ:PL 0/1:12,17:29:99:504,0,420
1 210847514 rs1934615 A T 34.59 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=1.495;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=-1.495;QD=4.94;ReadPosRankSum=1.495;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HHAT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000261458 GT:AD:DP:GQ:PL 0/1:5,2:7:64.58:65,0,179
1 210856585 rs3135473 G T 1702.96 PASS AB=0.504;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.89;DB;DP=136;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=7.8797;MQ=58.98;MQ0=0;MQRankSum=-1.221;QD=12.52;ReadPosRankSum=0.21;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271751 GT:AD:DP:GQ:PL 0/1:68,67:136:99:1733,0,1917
1 210857457 rs1135317 A G 706.47 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.355;DB;DP=50;Dels=0.0;FS=2.505;HRun=0;HaplotypeScore=0.9469;MQ=60.0;MQ0=0;MQRankSum=-0.359;QD=14.13;ReadPosRankSum=1.057;SNPEFF_AMINO_ACID_CHANGE=D685;SNPEFF_CODON_CHANGE=gaT/gaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_210856580_210857480;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNH1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000367007 GT:AD:DP:GQ:PL 0/1:20,30:50:99:736,0,491
1 211255936 rs4620600 G A 543.11 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.95;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271751 GT:AD:DP:GQ:PL 1/1:0,17:17:48.10:576,48,0
1 211280724 rs111658240 TA T 719.92 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.766;DB;DP=59;FS=4.574;HRun=14;HaplotypeScore=329.7486;IndelType=D;MQ=58.43;MQ0=0;MQRankSum=-0.282;QD=12.2;ReadPosRankSum=-0.443;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271751 GT:AD:DP:GQ:PL 1/1:9,45:59:96.19:762,96,0
1 211447625 rs11580084 G A 978.09 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.55;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RCOR3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000528408 GT:AD:DP:GQ:PL 1/1:0,31:31:72.24:1011,72,0
1 211449451 rs10732682 A G 464.43 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.2;MQ0=0;QD=35.73;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RCOR3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000528408 GT:AD:DP:GQ:PL 1/1:0,13:13:39.11:497,39,0
1 211452529 rs10708960 TA T 134.44 PASS AC=2;AF=1.00;AN=2;DB;DP=11;FS=0.0;HRun=15;HaplotypeScore=61.5913;IndelType=D;MQ=56.71;MQ0=0;QD=12.22;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RCOR3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000533469 GT:AD:DP:GQ:PL 1/1:1,8:11:28.60:176,29,0
1 211452678 rs3767377 G A 1185.40 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=57.8;MQ0=0;QD=37.04;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RCOR3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000529572 GT:AD:DP:GQ:PL 1/1:0,32:32:93.29:1218,93,0
1 211452728 rs3767378 G A 453.82 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.2;MQ0=0;QD=34.91;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RCOR3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000529572 GT:AD:DP:GQ:PL 1/1:0,13:13:36.12:487,36,0
1 211527609 rs7530570 C A 124.94 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.23;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TRAF5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000494355 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:157,12,0
1 211545442 rs11305975 CT C 345.75 PASS AB=0.646;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.199;DB;DP=42;FS=0.0;HRun=16;HaplotypeScore=276.4518;IndelType=D;MQ=55.3;MQ0=0;MQRankSum=0.166;QD=8.23;ReadPosRankSum=-0.092;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TRAF5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000261464 GT:AD:DP:GQ:PL 0/1:16,22:42:59.52:385,0,60
1 211545458 . TC T 118.04 PASS AB=0.86;AC=1;AF=0.50;AN=2;BaseQRankSum=2.102;DP=49;FS=15.367;HRun=1;HaplotypeScore=318.8915;IndelType=D;MQ=55.99;MQ0=0;MQRankSum=-0.599;QD=2.41;ReadPosRankSum=-0.369;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TRAF5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000261464 GT:AD:DP:GQ:PL 0/1:41,8:49:99:157,0,496
1 211591135 rs1707247 T C 2146.56 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.3;MQ0=0;QD=35.19;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C1orf97;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000423222 GT:AD:DP:GQ:PL 1/1:0,61:61:99:2180,163,0
1 211842808 rs697004 A C 163.60 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366998 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:196,15,0
1 211846876 rs701929 A G 616.95 PASS AB=0.612;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.428;DB;DP=67;Dels=0.0;FS=5.142;HRun=0;HaplotypeScore=0.9958;MQ=59.66;MQ0=0;MQRankSum=-0.344;QD=9.21;ReadPosRankSum=0.833;SNPEFF_AMINO_ACID_CHANGE=H125;SNPEFF_CODON_CHANGE=caT/caC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_211846825_211847065;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEK2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000540251 GT:AD:DP:GQ:PL 0/1:41,26:67:99:647,0,1229
1 212154688 rs114914822 C T 87.19 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.06;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=INTS7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366992 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:119,9,0
1 212190116 rs2993531 A C 223.17 PASS AB=0.385;AC=1;AF=0.50;AN=2;BaseQRankSum=1.855;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.092;QD=17.17;ReadPosRankSum=-0.271;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=INTS7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366992 GT:AD:DP:GQ:PL 0/1:5,8:13:99:253,0,154
1 212217971 rs72507799 C CTT 1585.47 PASS AC=2;AF=1.00;AN=2;DB;DP=34;FS=0.0;HRun=1;HaplotypeScore=167.3185;IndelType=I;MQ=53.85;MQ0=0;QD=46.63;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DTL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366991 GT:AD:DP:GQ:PL 1/1:5,28:34:87.30:1628,87,0
1 212220847 rs2970592 G A 608.24 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.117;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-2.085;QD=16.9;ReadPosRankSum=0.875;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DTL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366991 GT:AD:DP:GQ:PL 0/1:16,20:36:99:638,0,565
1 212225215 rs2970593 G A 89.09 MQFilter40 AB=0.824;AC=1;AF=0.50;AN=2;BaseQRankSum=0.335;DB;DP=34;Dels=0.0;FS=3.522;HRun=0;HaplotypeScore=0.0;MQ=23.42;MQ0=11;MQRankSum=1.453;QD=2.62;ReadPosRankSum=-0.857;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DTL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366991 GT:AD:DP:GQ:PL 0/1:28,6:34:99:119,0,346
1 212225343 rs2993547 T C 785.87 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=39.85;MQ0=1;QD=28.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DTL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366991 GT:AD:DP:GQ:PL 1/1:0,28:28:75.13:819,75,0
1 212225344 rs61828543 G A 207.97 PASS AB=0.593;AC=1;AF=0.50;AN=2;BaseQRankSum=2.284;DB;DP=27;Dels=0.0;FS=1.598;HRun=0;HaplotypeScore=0.0;MQ=40.19;MQ0=1;MQRankSum=-1.661;QD=7.7;ReadPosRankSum=-0.675;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DTL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366991 GT:AD:DP:GQ:PL 0/1:16,11:27:99:238,0,437
1 212236157 rs4951436 G T 769.16 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.89;MQ0=0;QD=36.63;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DTL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366991 GT:AD:DP:GQ:PL 1/1:0,21:21:60.20:802,60,0
1 212241714 rs72017111 TA T 96.44 PASS AB=0.778;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.803;DB;DP=28;FS=0.0;HRun=15;HaplotypeScore=129.3957;IndelType=D;MQ=58.33;MQ0=0;MQRankSum=1.479;QD=3.44;ReadPosRankSum=1.056;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DTL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366991 GT:AD:DP:GQ:PL 0/1:20,7:28:99:135,0,109
1 212253917 rs139218985 AT A 2623.60 PASS AB=0.654;AC=1;AF=0.50;AN=2;BaseQRankSum=7.66;DB;DP=153;FS=0.682;HRun=2;HaplotypeScore=385.8581;IndelType=D;MQ=59.82;MQ0=0;MQRankSum=2.047;QD=17.15;ReadPosRankSum=-1.509;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DTL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366991 GT:AD:DP:GQ:PL 0/1:72,81:153:99:2663,0,2691
1 212273639 rs3135474 C T 1263.29 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.24;SNPEFF_AMINO_ACID_CHANGE=A115V;SNPEFF_CODON_CHANGE=gCa/gTa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_212273594_212274426;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DTL;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000420235 GT:AD:DP:GQ:PL 1/1:0,38:38:99:1296,99,0
1 212274413 rs6540718 A C 1236.14 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.7;SNPEFF_AMINO_ACID_CHANGE=K373T;SNPEFF_CODON_CHANGE=aAa/aCa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_212273594_212274426;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DTL;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000420235 GT:AD:DP:GQ:PL 1/1:0,39:39:96.31:1269,96,0
1 212274503 rs72346427 C CT 58.75 PASS AB=0.647;AC=1;AF=0.50;AN=2;BaseQRankSum=0.198;DB;DP=11;FS=0.0;HRun=14;HaplotypeScore=38.1628;IndelType=I;MQ=61.94;MQ0=0;MQRankSum=0.198;QD=5.34;ReadPosRankSum=-0.922;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DTL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463791 GT:AD:DP:GQ:PL 0/1:5,5:11:17.69:98,0,18
1 212521639 rs701908 T G 259.56 PASS AB=0.389;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.272;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.091;QD=14.42;ReadPosRankSum=0.906;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPP2R5A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000498129 GT:AD:DP:GQ:PL 0/1:7,11:18:99:290,0,240
1 212526288 rs792442 C T 995.31 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.278;DB;DP=81;Dels=0.0;FS=2.324;HRun=0;HaplotypeScore=1.7356;MQ=59.43;MQ0=0;MQRankSum=0.746;QD=12.29;ReadPosRankSum=-0.575;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPP2R5A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000261461 GT:AD:DP:GQ:PL 0/1:45,36:81:99:1025,0,1451
1 212530192 rs792439 T C 205.59 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPP2R5A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000261461 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:238,18,0
1 212538899 rs12127560 A G 71.10 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.231;QD=14.22;ReadPosRankSum=1.231;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPP2R5A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000261461 GT:AD:DP:GQ:PL 0/1:2,3:5:67.83:101,0,68
1 212538923 rs12138533 C T 42.86 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=14.29;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPP2R5A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000261461 GT:AD:DP:GQ:PL 0/1:1,2:3:30.98:73,0,31
1 212560327 rs792449 A G 2535.27 PASS AC=2;AF=1.00;AN=2;DB;DP=82;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8321;MQ=59.44;MQ0=0;QD=30.92;SNPEFF_AMINO_ACID_CHANGE=F144;SNPEFF_CODON_CHANGE=ttT/ttC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_212560233_212560442;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM206;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000535273 GT:AD:DP:GQ:PL 1/1:2,79:82:99:2568,205,0
1 212615875 rs521469 T C 536.08 PASS AB=0.511;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.148;DB;DP=45;Dels=0.0;FS=1.552;HRun=3;HaplotypeScore=1.6208;MQ=60.0;MQ0=0;MQRankSum=-2.373;QD=11.91;ReadPosRankSum=0.851;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NENF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366988 GT:AD:DP:GQ:PL 0/1:23,22:45:99:566,0,723
1 212619339 rs4804 T C 1108.91 PASS AB=0.434;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.213;DB;DP=76;Dels=0.0;FS=2.228;HRun=0;HaplotypeScore=0.8941;MQ=59.7;MQ0=0;MQRankSum=-0.304;QD=14.59;ReadPosRankSum=1.121;SNPEFF_AMINO_ACID_CHANGE=D170;SNPEFF_CODON_CHANGE=gaT/gaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_212619172_212619714;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NENF;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366988 GT:AD:DP:GQ:PL 0/1:33,43:76:99:1139,0,921
1 212791288 rs71927630 CGT C 332.25 PASS AC=2;AF=1.00;AN=2;DB;DP=12;FS=0.0;HRun=0;HaplotypeScore=81.3094;IndelType=D;MQ=52.79;MQ0=1;QD=25.56;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATF3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336937 GT:AD:DP:GQ:PL 1/1:3,9:12:32.93:374,33,0
1 212792191 rs11571552 A G 41.52 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=13.84;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATF3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336937 GT:AD:DP:GQ:PL 0/1:1,2:3:33.20:72,0,33
1 212798977 rs3122712 A G 1593.61 PASS AB=0.504;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.243;DB;DP=115;Dels=0.0;FS=6.027;HRun=0;HaplotypeScore=5.6639;MQ=59.84;MQ0=0;MQRankSum=1.483;QD=13.86;ReadPosRankSum=0.998;SNPEFF_AMINO_ACID_CHANGE=N253S;SNPEFF_CODON_CHANGE=aAt/aGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_212797789_212800120;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM71A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000294829 GT:AD:DP:GQ:PL 0/1:58,57:115:99:1624,0,1622
1 212799870 rs3122713 A G 2216.55 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.65;MQ0=0;QD=34.1;SNPEFF_AMINO_ACID_CHANGE=N326D;SNPEFF_CODON_CHANGE=Aac/Gac;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_212798895_212800114;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM71A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000545975 GT:AD:DP:GQ:PL 1/1:0,65:65:99:2250,175,0
1 212799949 rs3795842 C T 2092.73 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.6281;MQ=59.63;MQ0=0;QD=33.75;SNPEFF_AMINO_ACID_CHANGE=T352M;SNPEFF_CODON_CHANGE=aCg/aTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_212798895_212800114;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM71A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000545975 GT:AD:DP:GQ:PL 1/1:0,62:62:99:2126,162,0
1 212900434 rs3835160 C CG 1044.47 PASS AC=2;AF=1.00;AN=2;DB;DP=23;FS=0.0;HRun=1;HaplotypeScore=121.9089;IndelType=I;MQ=59.94;MQ0=0;QD=45.41;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NSL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366978 GT:AD:DP:GQ:PL 1/1:0,23:23:69.23:1087,69,0
1 212900487 rs2244935 A G 1247.95 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.97;MQ0=0;QD=27.73;SNPEFF_AMINO_ACID_CHANGE=V75;SNPEFF_CODON_CHANGE=gtT/gtC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_212899495_212900521;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NSL1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366978 GT:AD:DP:GQ:PL 1/1:0,45:45:93.30:1281,93,0
1 212911836 rs15702 T C 3219.26 PASS AC=2;AF=1.00;AN=2;DB;DP=97;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.19;SNPEFF_AMINO_ACID_CHANGE=M213V;SNPEFF_CODON_CHANGE=Atg/Gtg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_212911269_212912028;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NSL1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366975 GT:AD:DP:GQ:PL 1/1:0,97:97:99:3252,256,0
1 212955231 rs11120025 A C 520.90 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.73;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NSL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473995 GT:AD:DP:GQ:PL 1/1:0,15:15:39.13:554,39,0
1 212955454 rs11120026 G A 1109.22 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.654;DB;DP=99;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.1017;MQ=59.77;MQ0=0;MQRankSum=0.661;QD=11.2;ReadPosRankSum=0.522;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NSL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000487995 GT:AD:DP:GQ:PL 0/1:56,42:99:99:1139,0,1654
1 212961143 rs3820679 T C 52.75 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NSL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366975 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:84,6,0
1 212969842 rs71885232 C CT 417.46 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.063;DB;DP=23;FS=0.0;HRun=13;HaplotypeScore=87.1955;IndelType=I;MQ=57.97;MQ0=0;MQRankSum=-1.197;QD=18.15;ReadPosRankSum=1.701;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TATDN3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366973 GT:AD:DP:GQ:PL 1/1:5,18:23:18.89:459,19,0
1 212970375 rs1284800 A G 529.94 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.85;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TATDN3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000532433 GT:AD:DP:GQ:PL 1/1:0,14:14:42.14:563,42,0
1 212985466 rs12130945 C T 274.99 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.55;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TATDN3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000530399 GT:AD:DP:GQ:PL 1/1:0,9:9:24.08:308,24,0
1 213003372 rs12133194 A T 50.63 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.32;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf227;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000332912 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
1 213009469 rs10864004 A G 1198.12 PASS AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.476;DB;DP=95;Dels=0.0;FS=6.61;HRun=0;HaplotypeScore=2.4706;MQ=59.27;MQ0=0;MQRankSum=0.954;QD=12.61;ReadPosRankSum=-0.833;SNPEFF_AMINO_ACID_CHANGE=I8T;SNPEFF_CODON_CHANGE=aTt/aCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_213009215_213009529;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf227;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000332912 GT:AD:DP:GQ:PL 0/1:50,45:95:99:1228,0,1519
1 213031158 rs1047881 C T 411.40 PASS AB=0.514;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.845;DB;DP=35;Dels=0.0;FS=1.394;HRun=1;HaplotypeScore=0.8941;MQ=59.34;MQ0=0;MQRankSum=0.776;QD=11.75;ReadPosRankSum=-1.397;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FLVCR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366971 GT:AD:DP:GQ:PL 0/1:18,17:35:99:441,0,506
1 213031350 rs2220949 C T 30.90 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=5;Dels=0.0;FS=3.979;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.358;QD=6.18;ReadPosRankSum=0.358;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FLVCR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366971 GT:AD:DP:GQ:PL 0/1:3,2:5:60.89:61,0,72
1 213031448 rs2201601 G C 61.62 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=6.021;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=15.4;ReadPosRankSum=0.727;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FLVCR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366971 GT:AD:DP:GQ:PL 0/1:1,3:4:27.28:92,0,27
1 213031473 rs2201602 A C 89.26 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.75;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FLVCR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366971 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:121,9,0
1 213032568 rs12023052 T A 239.09 PASS AB=0.593;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.814;DB;DP=27;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=58.44;MQ0=0;MQRankSum=-0.37;QD=8.86;ReadPosRankSum=-0.419;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FLVCR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366971 GT:AD:DP:GQ:PL 0/1:16,11:27:99:269,0,501
1 213037310 rs3768548 T C 134.98 PASS AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9998;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=22.5;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FLVCR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366971 GT:AD:DP:GQ:PL 0/1:1,5:6:22.59:165,0,23
1 213046236 rs1890932 G A 481 PASS AB=0.485;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.306;DB;DP=34;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9578;MQ=60.0;MQ0=0;MQRankSum=-0.306;QD=14.15;ReadPosRankSum=0.594;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FLVCR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366971 GT:AD:DP:GQ:PL 0/1:16,17:34:99:511,0,570
1 213056819 rs2644547 A G 453.72 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.41;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FLVCR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366971 GT:AD:DP:GQ:PL 1/1:0,14:14:39.12:487,39,0
1 213056892 rs12125982 A G 74.47 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.406;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.82;MQ0=0;MQRankSum=0.406;QD=12.41;ReadPosRankSum=0.406;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FLVCR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366971 GT:AD:DP:GQ:PL 0/1:3,3:6:99:104,0,101
1 213058852 rs7536716 T A 74.28 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.358;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=53.03;MQ0=0;MQRankSum=1.231;QD=10.61;ReadPosRankSum=0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FLVCR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366971 GT:AD:DP:GQ:PL 0/1:2,5:7:67.83:104,0,68
1 213058871 rs7522693 C G 42.75 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=49.96;MQ0=0;MQRankSum=-0.736;QD=8.55;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FLVCR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366971 GT:AD:DP:GQ:PL 0/1:1,2:5:27.95:73,0,28
1 213061362 rs2291772 T A 322.80 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.588;DB;DP=24;Dels=0.0;FS=6.628;HRun=1;HaplotypeScore=0.0;MQ=59.03;MQ0=0;MQRankSum=2.685;QD=13.45;ReadPosRankSum=-1.876;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FLVCR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474693 GT:AD:DP:GQ:PL 0/1:12,12:24:99:353,0,414
1 213061460 rs2291771 T C 173.04 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.573;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.422;QD=19.23;ReadPosRankSum=0.248;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FLVCR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474693 GT:AD:DP:GQ:PL 0/1:3,6:9:96.55:203,0,97
1 213062017 rs112024320 T TTTG 388.28 PASS AC=2;AF=1.00;AN=2;DB;DP=11;FS=0.0;HRun=0;HaplotypeScore=34.7366;IndelType=I;MQ=57.87;MQ0=0;QD=35.3;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FLVCR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474693 GT:AD:DP:GQ:PL 1/1:4,7:11:21.07:430,21,0
1 213068096 rs12405293 T C 179.22 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FLVCR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366971 GT:AD:DP:GQ:PL 1/1:0,6:6:18.05:212,18,0
1 213068192 rs2792558 T C 559.80 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.542;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.735;QD=31.1;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FLVCR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366971 GT:AD:DP:GQ:PL 1/1:1,17:18:48.15:593,48,0
1 213068233 rs12408694 C T 1315.53 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.39;MQ0=0;QD=34.62;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FLVCR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366971 GT:AD:DP:GQ:PL 1/1:0,38:38:99:1349,105,0
1 213068404 rs17019870 T C 1466.05 PASS AB=0.51;AC=1;AF=0.50;AN=2;BaseQRankSum=2.859;DB;DP=100;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.445;MQ=59.54;MQ0=0;MQRankSum=0.409;QD=14.66;ReadPosRankSum=-1.179;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FLVCR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366971 GT:AD:DP:GQ:PL 0/1:51,49:100:99:1496,0,1593
1 213068436 rs17019873 A G 957.10 PASS AB=0.56;AC=1;AF=0.50;AN=2;BaseQRankSum=0.783;DB;DP=75;Dels=0.0;FS=1.217;HRun=0;HaplotypeScore=0.0;MQ=59.69;MQ0=0;MQRankSum=1.305;QD=12.76;ReadPosRankSum=0.174;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FLVCR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366971 GT:AD:DP:GQ:PL 0/1:42,33:75:99:987,0,1401
1 213068542 . C CTGAT 1582.69 PASS AB=0.645;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.748;DP=40;FS=0.0;HRun=0;HaplotypeScore=163.8118;IndelType=I;MQ=58.77;MQ0=0;MQRankSum=-1.374;QD=39.57;ReadPosRankSum=-0.149;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FLVCR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366971 GT:AD:DP:GQ:PL 0/1:18,21:40:99:1622,0,685
1 213068595 rs3207090 C T 457.68 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.101;DB;DP=35;Dels=0.0;FS=1.423;HRun=0;HaplotypeScore=2.3639;MQ=57.64;MQ0=0;MQRankSum=1.274;QD=13.08;ReadPosRankSum=0.138;SNPEFF_AMINO_ACID_CHANGE=T544M;SNPEFF_CODON_CHANGE=aCg/aTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_213068558_213072705;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FLVCR1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366971 GT:AD:DP:GQ:PL 0/1:17,17:35:99:488,0,479
1 213139748 rs3738805 T G 434.73 PASS AB=0.531;AC=1;AF=0.50;AN=2;BaseQRankSum=1.699;DB;DP=32;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.264;QD=13.59;ReadPosRankSum=-1.095;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VASH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481097 GT:AD:DP:GQ:PL 0/1:17,15:32:99:465,0,533
1 213140362 rs10779597 G A 170.14 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.588;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.43;MQ0=0;MQRankSum=-0.259;QD=14.18;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VASH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481097 GT:AD:DP:GQ:PL 0/1:6,6:12:99:200,0,197
1 213140398 rs10779598 A C 192.04 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.158;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.11;MQ0=0;MQRankSum=0.0;QD=9.14;ReadPosRankSum=0.555;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VASH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481097 GT:AD:DP:GQ:PL 0/1:14,7:21:99:222,0,411
1 213178340 rs11120076 G A 252.21 PASS AB=0.438;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.423;DB;DP=16;Dels=0.0;FS=2.596;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.106;QD=15.76;ReadPosRankSum=-1.905;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANGEL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310246 GT:AD:DP:GQ:PL 0/1:7,9:16:99:282,0,244
1 213180441 rs71147054 G GA 162.31 PASS AB=0.797;AC=1;AF=0.50;AN=2;BaseQRankSum=2.702;DB;DP=55;FS=0.0;HRun=17;HaplotypeScore=500.0011;IndelType=I;MQ=50.46;MQ0=0;MQRankSum=0.701;QD=2.95;ReadPosRankSum=0.3;SNPEFF_EFFECT=FRAME_SHIFT;SNPEFF_EXON_ID=exon_1_213179882_213180455;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANGEL2;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000310246 GT:AD:DP:GQ:PL 0/1:31,12:55:53:201,0,53
1 213181381 rs3124666 G T 123.94 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=54.16;MQ0=0;QD=24.79;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANGEL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481918 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:156,12,0
1 213181916 rs3002284 T C 48.55 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.74;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.925;QD=4.05;ReadPosRankSum=-0.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANGEL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310246 GT:AD:DP:GQ:PL 0/1:9,3:12:78.54:79,0,330
1 213224719 rs4951476 T C 94.02 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=1.034;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.43;MQ0=0;MQRankSum=0.0;QD=7.84;ReadPosRankSum=0.278;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_1_213224597_213224851;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RPS6KC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366959 GT:AD:DP:GQ:PL 0/1:8,4:12:99:124,0,195
1 213416197 rs4411110 G A 88.95 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.44;MQ0=0;QD=29.65;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RPS6KC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366959 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:121,9,0
1 213783102 . C CGG 77.79 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.736;DP=13;FS=0.0;HRun=3;HaplotypeScore=82.8773;IndelType=I;MQ=35.57;MQ0=0;MQRankSum=-0.736;QD=5.98;ReadPosRankSum=-0.736;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AL592063.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408099 GT:AD:DP:GQ:PL 1/1:4,5:13:7.76:119,8,0
1 214204377 rs34640999 CGT C 233.57 PASS AC=2;AF=1.00;AN=2;DB;DP=16;FS=0.0;HRun=0;HaplotypeScore=79.0261;IndelType=D;MQ=57.42;MQ0=0;QD=14.6;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PROX1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000261454 GT:AD:DP:GQ:PL 1/1:6,9:16:26.89:276,27,0
1 214491536 rs55760458 G C 403.09 PASS AB=0.553;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.369;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.78;MQ0=0;MQRankSum=-0.72;QD=10.61;ReadPosRankSum=0.23;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SMYD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366957 GT:AD:DP:GQ:PL 0/1:21,17:38:99:433,0,710
1 214492286 rs1134647 G A 857.40 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.27;DB;DP=65;Dels=0.0;FS=0.97;HRun=1;HaplotypeScore=2.8931;MQ=59.71;MQ0=0;MQRankSum=-0.625;QD=13.19;ReadPosRankSum=-1.322;SNPEFF_AMINO_ACID_CHANGE=G165E;SNPEFF_CODON_CHANGE=gGa/gAa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_214492202_214492326;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SMYD2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366957 GT:AD:DP:GQ:PL 0/1:30,35:65:99:887,0,1012
1 214497861 rs6695148 G T 332.76 PASS AB=0.389;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.355;DB;DP=18;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.9734;MQ=60.0;MQ0=0;MQRankSum=-0.362;QD=18.49;ReadPosRankSum=1.359;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SMYD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366957 GT:AD:DP:GQ:PL 0/1:7,11:18:99:363,0,233
1 214498306 rs3767842 C T 81 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=20.25;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SMYD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366957 GT:AD:DP:GQ:PL 0/1:1,3:4:21.40:111,0,21
1 214500907 rs17022608 A C 418.67 PASS AB=0.659;AC=1;AF=0.50;AN=2;BaseQRankSum=2.996;DB;DP=44;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.58;MQ0=0;MQRankSum=-0.619;QD=9.52;ReadPosRankSum=-0.867;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SMYD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366957 GT:AD:DP:GQ:PL 0/1:29,15:44:99:449,0,970
1 214504604 rs2270704 T C 48.08 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.04;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SMYD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484459 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
1 214537627 rs72757949 C T 144.12 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.361;QD=16.01;ReadPosRankSum=-0.361;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPN14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366956 GT:AD:DP:GQ:PL 0/1:4,5:9:99:174,0,139
1 214542668 rs3002311 T C 116.92 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=1.3;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.937;QD=16.7;ReadPosRankSum=-1.754;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPN14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473261 GT:AD:DP:GQ:PL 0/1:3,4:7:99:147,0,104
1 214542819 rs1135352 T C 1202.68 PASS AB=0.523;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.383;DB;DP=86;Dels=0.0;FS=3.813;HRun=1;HaplotypeScore=1.8561;MQ=59.78;MQ0=0;MQRankSum=0.964;QD=13.98;ReadPosRankSum=-0.753;SNPEFF_AMINO_ACID_CHANGE=E1084;SNPEFF_CODON_CHANGE=gaA/gaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_214542800_214543034;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPN14;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366956 GT:AD:DP:GQ:PL 0/1:45,41:86:99:1233,0,1401
1 214551276 rs3013451 G A 1002.34 PASS AB=0.494;AC=1;AF=0.50;AN=2;BaseQRankSum=0.132;DB;DP=83;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=3.566;MQ=58.83;MQ0=0;MQRankSum=1.107;QD=12.08;ReadPosRankSum=-1.828;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPN14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366956 GT:AD:DP:GQ:PL 0/1:41,42:83:99:1032,0,1034
1 214556483 rs72757966 T A 193 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.78;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.78;QD=13.79;ReadPosRankSum=0.299;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPN14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366956 GT:AD:DP:GQ:PL 0/1:7,7:14:99:223,0,241
1 214558228 rs3013446 A G 169.74 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.365;DB;DP=10;Dels=0.0;FS=3.979;HRun=0;HaplotypeScore=0.0;MQ=57.66;MQ0=0;MQRankSum=-0.741;QD=16.97;ReadPosRankSum=1.447;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPN14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366956 GT:AD:DP:GQ:PL 0/1:4,6:10:97.65:200,0,98
1 214564340 rs7550799 T C 323.14 PASS AB=0.519;AC=1;AF=0.50;AN=2;BaseQRankSum=0.68;DB;DP=27;Dels=0.0;FS=6.239;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.136;QD=11.97;ReadPosRankSum=-0.027;SNPEFF_AMINO_ACID_CHANGE=R326;SNPEFF_CODON_CHANGE=cgA/cgG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_214564331_214564388;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPN14;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366956 GT:AD:DP:GQ:PL 0/1:14,13:27:99:353,0,422
1 214566845 rs7355212 A G 42.22 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=14.07;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPN14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366956 GT:AD:DP:GQ:PL 0/1:1,2:3:30.29:72,0,30
1 214566952 rs4655342 A G 122.22 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.529;DB;DP=12;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.9;MQ0=0;MQRankSum=0.135;QD=10.18;ReadPosRankSum=-0.689;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPN14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366956 GT:AD:DP:GQ:PL 0/1:7,5:12:99:152,0,250
1 214567013 rs66776609 CG C 157.74 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=1.943;DB;DP=20;FS=0.0;HRun=7;HaplotypeScore=72.3657;IndelType=D;MQ=59.39;MQ0=0;MQRankSum=0.998;QD=7.89;ReadPosRankSum=-0.053;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPN14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366956 GT:AD:DP:GQ:PL 0/1:12,8:20:99:197,0,239
1 214568471 rs11120308 C A 178.56 PASS AB=0.222;AC=1;AF=0.50;AN=2;BaseQRankSum=1.179;DB;DP=9;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.179;QD=19.84;ReadPosRankSum=-0.762;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPN14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366956 GT:AD:DP:GQ:PL 0/1:2,7:9:49.85:209,0,50
1 214576454 rs72757974 C A 72.63 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.55;DB;DP=7;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=56.62;MQ0=0;MQRankSum=-0.937;QD=10.38;ReadPosRankSum=0.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPN14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366956 GT:AD:DP:GQ:PL 0/1:4,3:7:99:103,0,137
1 214584942 rs186566583 T A 205.71 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=2.507;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.27;QD=10.29;ReadPosRankSum=-1.35;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPN14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366956 GT:AD:DP:GQ:PL 0/1:12,8:20:99:236,0,427
1 214625431 rs7355177 A G 175.13 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=1.422;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-2.054;QD=19.46;ReadPosRankSum=1.422;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPN14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366956 GT:AD:DP:GQ:PL 0/1:3,6:9:93.59:205,0,94
1 214637882 rs7528315 A G 93.30 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.568;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.633;QD=9.33;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPN14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000486173 GT:AD:DP:GQ:PL 0/1:6,4:10:99:123,0,221
1 214638172 rs10864100 C T 235.03 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=3.66;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.533;QD=11.19;ReadPosRankSum=0.462;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPN14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000486173 GT:AD:DP:GQ:PL 0/1:12,9:21:99:265,0,352
1 214656070 rs12740343 T C 290.88 MQFilter40 AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.897;DB;DP=26;Dels=0.0;FS=3.424;HRun=1;HaplotypeScore=0.9983;MQ=34.02;MQ0=1;MQRankSum=-1.169;QD=11.19;ReadPosRankSum=0.462;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPN14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366956 GT:AD:DP:GQ:PL 0/1:13,13:26:99:321,0,324
1 214656259 rs77987889 G A 50.53 QDFilter2 AB=0.811;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.811;DB;DP=37;Dels=0.0;FS=17.198;HRun=0;HaplotypeScore=0.9894;MQ=50.39;MQ0=0;MQRankSum=-3.703;QD=1.37;ReadPosRankSum=-0.601;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPN14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366956 GT:AD:DP:GQ:PL 0/1:30,7:37:80.53:81,0,1105
1 214656268 rs78165379 A G 33.42 QDFilter2 AB=0.795;AC=1;AF=0.50;AN=2;BaseQRankSum=2.035;DB;DP=39;Dels=0.0;FS=12.03;HRun=0;HaplotypeScore=0.9894;MQ=53.35;MQ0=0;MQRankSum=-3.739;QD=0.86;ReadPosRankSum=-0.017;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPN14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366956 GT:AD:DP:GQ:PL 0/1:31,8:39:63.41:63,0,1092
1 214656277 rs79052802 C G 173.31 PASS AB=0.721;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.546;DB;DP=43;Dels=0.0;FS=18.014;HRun=0;HaplotypeScore=0.9894;MQ=51.88;MQ0=1;MQRankSum=-4.005;QD=4.03;ReadPosRankSum=-1.831;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPN14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366956 GT:AD:DP:GQ:PL 0/1:31,12:43:99:203,0,1122
1 214656298 rs55872127 C T 269.84 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.657;DB;DP=54;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.8667;MQ=51.95;MQ0=1;MQRankSum=-5.021;QD=5.0;ReadPosRankSum=-2.087;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPN14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366956 GT:AD:DP:GQ:PL 0/1:36,18:54:99:300,0,1256
1 214656333 rs75490133 G A 454.04 PASS AB=0.565;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.072;DB;DP=62;Dels=0.0;FS=9.75;HRun=0;HaplotypeScore=1.9134;MQ=51.36;MQ0=1;MQRankSum=-4.397;QD=7.32;ReadPosRankSum=-0.372;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPN14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366956 GT:AD:DP:GQ:PL 0/1:35,27:62:99:484,0,1264
1 214656359 rs57780679 T TC 3442.86 PASS AC=2;AF=1.00;AN=2;DB;DP=78;FS=0.0;HRun=0;HaplotypeScore=593.3645;IndelType=I;MQ=51.23;MQ0=1;QD=40.5;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPN14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366956 GT:AD:DP:GQ:PL 1/1:14,71:78:99:3443,220,0
1 214656362 rs79153607 T C 581.80 HaplotypeScoreFilter13 AB=0.59;AC=1;AF=0.50;AN=2;BaseQRankSum=1.591;DB;DP=83;Dels=0.0;FS=0.921;HRun=1;HaplotypeScore=45.965;MQ=51.0;MQ0=1;MQRankSum=-5.291;QD=7.01;ReadPosRankSum=1.85;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPN14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366956 GT:AD:DP:GQ:PL 0/1:49,34:83:99:612,0,1675
1 214656378 rs75388246 C T 538.60 PASS AB=0.655;AC=1;AF=0.50;AN=2;BaseQRankSum=0.838;DB;DP=87;Dels=0.0;FS=1.999;HRun=1;HaplotypeScore=0.9734;MQ=52.18;MQ0=0;MQRankSum=-5.958;QD=6.19;ReadPosRankSum=2.043;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPN14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366956 GT:AD:DP:GQ:PL 0/1:57,30:87:99:569,0,1865
1 214656413 rs74407488 T C 371.78 PASS AB=0.693;AC=1;AF=0.50;AN=2;BaseQRankSum=0.247;DB;DP=76;Dels=0.0;FS=3.729;HRun=0;HaplotypeScore=2.6515;MQ=52.96;MQ0=0;MQRankSum=-5.096;QD=4.89;ReadPosRankSum=-1.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPN14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366956 GT:AD:DP:GQ:PL 0/1:52,23:76:99:402,0,1679
1 214656439 rs112508752 CTAA C 658.29 PASS AB=0.814;AC=1;AF=0.50;AN=2;BaseQRankSum=6.308;DB;DP=82;FS=10.774;HRun=0;HaplotypeScore=615.9791;IndelType=D;MQ=52.93;MQ0=0;MQRankSum=-6.078;QD=7.93;ReadPosRankSum=0.213;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPN14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366956 GT:AD:DP:GQ:PL 0/1:64,19:82:99:697,0,4108
1 214656464 rs75275552 G T 169.73 QDFilter2 AB=0.713;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.3;DB;DP=94;Dels=0.0;FS=2.422;HRun=1;HaplotypeScore=2.9396;MQ=52.39;MQ0=1;MQRankSum=-6.319;QD=1.81;ReadPosRankSum=0.5;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPN14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366956 GT:AD:DP:GQ:PL 0/1:67,27:94:99:200,0,2269
1 214656466 rs61745824 C G 174.36 QDFilter2 AB=0.713;AC=1;AF=0.50;AN=2;BaseQRankSum=2.112;DB;DP=94;Dels=0.0;FS=2.367;HRun=0;HaplotypeScore=2.9396;MQ=52.39;MQ0=1;MQRankSum=-6.175;QD=1.85;ReadPosRankSum=0.493;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPN14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366956 GT:AD:DP:GQ:PL 0/1:67,27:94:99:204,0,2199
1 214779031 rs76561183 C A 227.04 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.599;DB;DP=21;Dels=0.0;FS=7.991;HRun=0;HaplotypeScore=0.8321;MQ=59.11;MQ0=0;MQRankSum=0.746;QD=10.81;ReadPosRankSum=-0.391;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CENPF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366955 GT:AD:DP:GQ:PL 0/1:12,9:21:99:257,0,398
1 214779347 rs113296548 C T 336.12 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=1.349;DB;DP=27;Dels=0.0;FS=3.821;HRun=0;HaplotypeScore=0.0;MQ=41.69;MQ0=0;MQRankSum=0.0;QD=12.45;ReadPosRankSum=0.052;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CENPF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366955 GT:AD:DP:GQ:PL 0/1:12,15:27:99:366,0,237
1 214782129 rs12081395 G A 413.37 PASS AB=0.391;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.661;DB;DP=23;Dels=0.0;FS=1.744;HRun=0;HaplotypeScore=0.0;MQ=56.28;MQ0=0;MQRankSum=-0.031;QD=17.97;ReadPosRankSum=0.094;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CENPF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366955 GT:AD:DP:GQ:PL 0/1:9,14:23:99:443,0,249
1 214787430 rs111512847 A G 30.44 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=51.77;MQ0=0;QD=10.15;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CENPF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000495259 GT:AD:DP:GQ:PL 1/1:0,2:3:5.99:62,6,0
1 214788427 rs41303281 C T 155.08 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=3.464;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.752;QD=7.38;ReadPosRankSum=0.584;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CENPF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000495259 GT:AD:DP:GQ:PL 0/1:15,6:21:99:185,0,435
1 214792249 rs2292378 G T 41.53 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=13.84;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CENPF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464322 GT:AD:DP:GQ:PL 0/1:1,2:3:29.55:72,0,30
1 214792349 rs2292377 C G 171.85 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.572;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=21.48;ReadPosRankSum=1.067;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CENPF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464322 GT:AD:DP:GQ:PL 0/1:2,6:8:54.37:202,0,54
1 214804041 rs2292379 C A 371.66 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.243;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.48;MQ0=0;MQRankSum=0.712;QD=10.32;ReadPosRankSum=0.269;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CENPF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366955 GT:AD:DP:GQ:PL 0/1:18,18:36:99:402,0,598
1 214811174 rs2280049 G A 565.01 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=3.708;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.6637;MQ=59.41;MQ0=0;MQRankSum=-0.876;QD=14.49;ReadPosRankSum=1.781;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CENPF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366955 GT:AD:DP:GQ:PL 0/1:19,19:39:99:595,0,520
1 214811244 rs2070065 C G 514.73 PASS AB=0.676;AC=1;AF=0.50;AN=2;BaseQRankSum=1.294;DB;DP=68;Dels=0.0;FS=1.08;HRun=0;HaplotypeScore=0.9665;MQ=59.66;MQ0=0;MQRankSum=-1.39;QD=7.57;ReadPosRankSum=-0.234;SNPEFF_AMINO_ACID_CHANGE=H494Q;SNPEFF_CODON_CHANGE=caC/caG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_214811209_214811344;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CENPF;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366955 GT:AD:DP:GQ:PL 0/1:46,22:68:99:545,0,1447
1 214813487 rs2070066 A G 1519.80 PASS AB=0.495;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.283;DB;DP=101;Dels=0.0;FS=1.852;HRun=1;HaplotypeScore=0.9665;MQ=59.17;MQ0=0;MQRankSum=0.393;QD=15.05;ReadPosRankSum=-0.365;SNPEFF_AMINO_ACID_CHANGE=L602;SNPEFF_CODON_CHANGE=ttA/ttG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_214813264_214816667;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CENPF;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366955 GT:AD:DP:GQ:PL 0/1:50,51:101:99:1550,0,1645
1 214813782 rs3795524 A G 575.59 PASS AB=0.406;AC=1;AF=0.50;AN=2;BaseQRankSum=0.614;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.42;MQ0=0;MQRankSum=-0.077;QD=17.99;ReadPosRankSum=-0.614;SNPEFF_AMINO_ACID_CHANGE=M701V;SNPEFF_CODON_CHANGE=Atg/Gtg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_214813264_214816667;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CENPF;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366955 GT:AD:DP:GQ:PL 0/1:13,19:32:99:606,0,398
1 214813941 rs3795523 C G 484.80 PASS AB=0.548;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.771;DB;DP=42;Dels=0.0;FS=1.26;HRun=0;HaplotypeScore=0.0;MQ=58.89;MQ0=0;MQRankSum=-0.275;QD=11.54;ReadPosRankSum=-0.118;SNPEFF_AMINO_ACID_CHANGE=Q754E;SNPEFF_CODON_CHANGE=Caa/Gaa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_214813264_214816667;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CENPF;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366955 GT:AD:DP:GQ:PL 0/1:23,19:42:99:515,0,676
1 214814125 rs3795522 G A 454.25 PASS AB=0.515;AC=1;AF=0.50;AN=2;BaseQRankSum=0.594;DB;DP=33;Dels=0.0;FS=5.188;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.558;QD=13.77;ReadPosRankSum=-1.243;SNPEFF_AMINO_ACID_CHANGE=R815H;SNPEFF_CODON_CHANGE=cGt/cAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_214813264_214816667;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CENPF;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366955 GT:AD:DP:GQ:PL 0/1:17,16:33:99:484,0,554
1 214814582 rs3795520 G A 1581.32 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.711;DB;DP=80;Dels=0.0;FS=3.089;HRun=0;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=0.134;QD=19.77;ReadPosRankSum=-0.611;SNPEFF_AMINO_ACID_CHANGE=R967;SNPEFF_CODON_CHANGE=agG/agA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_214813264_214816667;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CENPF;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366955 GT:AD:DP:GQ:PL 0/1:30,50:80:99:1611,0,937
1 214814733 rs3795519 T G 905.83 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=3.818;DB;DP=66;Dels=0.0;FS=5.61;HRun=1;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=0.483;QD=13.72;ReadPosRankSum=0.2;SNPEFF_AMINO_ACID_CHANGE=Y1018D;SNPEFF_CODON_CHANGE=Tac/Gac;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_214813264_214816667;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CENPF;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366955 GT:AD:DP:GQ:PL 0/1:36,30:66:99:936,0,1168
1 214814778 rs3795518 G A 600.85 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=0.199;DB;DP=56;Dels=0.0;FS=2.551;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.169;QD=10.73;ReadPosRankSum=0.286;SNPEFF_AMINO_ACID_CHANGE=G1033R;SNPEFF_CODON_CHANGE=Gga/Aga;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_214813264_214816667;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CENPF;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366955 GT:AD:DP:GQ:PL 0/1:35,21:56:99:631,0,1126
1 214814995 rs12067133 C T 337.94 PASS AB=0.567;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.841;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-2.511;QD=11.26;ReadPosRankSum=0.293;SNPEFF_AMINO_ACID_CHANGE=T1105I;SNPEFF_CODON_CHANGE=aCa/aTa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_214813264_214816667;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CENPF;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366955 GT:AD:DP:GQ:PL 0/1:17,13:30:99:368,0,624
1 214815916 rs3795517 T C 217.49 PASS AB=0.727;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.293;DB;DP=33;Dels=0.0;FS=1.556;HRun=0;HaplotypeScore=0.9933;MQ=60.0;MQ0=0;MQRankSum=-0.713;QD=6.59;ReadPosRankSum=-0.084;SNPEFF_AMINO_ACID_CHANGE=L1412S;SNPEFF_CODON_CHANGE=tTa/tCa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_214813264_214816667;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CENPF;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366955 GT:AD:DP:GQ:PL 0/1:24,9:33:99:247,0,716
1 214816142 rs3795516 T G 814.13 PASS AB=0.481;AC=1;AF=0.50;AN=2;BaseQRankSum=0.753;DB;DP=54;Dels=0.0;FS=2.315;HRun=0;HaplotypeScore=0.9665;MQ=60.0;MQ0=0;MQRankSum=0.995;QD=15.08;ReadPosRankSum=-1.151;SNPEFF_AMINO_ACID_CHANGE=L1487;SNPEFF_CODON_CHANGE=ctT/ctG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_214813264_214816667;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CENPF;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366955 GT:AD:DP:GQ:PL 0/1:26,28:54:99:844,0,814
1 214816224 rs2666839 G A 788.46 PASS AB=0.475;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.458;DB;DP=59;Dels=0.0;FS=1.029;HRun=0;HaplotypeScore=0.9832;MQ=60.0;MQ0=0;MQRankSum=0.163;QD=13.36;ReadPosRankSum=-0.366;SNPEFF_AMINO_ACID_CHANGE=A1515T;SNPEFF_CODON_CHANGE=Gct/Act;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_214813264_214816667;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CENPF;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366955 GT:AD:DP:GQ:PL 0/1:28,31:59:99:818,0,912
1 214816297 rs3795514 A G 550.02 PASS AB=0.604;AC=1;AF=0.50;AN=2;BaseQRankSum=1.225;DB;DP=48;Dels=0.0;FS=2.658;HRun=0;HaplotypeScore=1.7046;MQ=58.64;MQ0=0;MQRankSum=-0.488;QD=11.46;ReadPosRankSum=-0.141;SNPEFF_AMINO_ACID_CHANGE=K1539R;SNPEFF_CODON_CHANGE=aAa/aGa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_214813264_214816667;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CENPF;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366955 GT:AD:DP:GQ:PL 0/1:29,19:48:99:580,0,901
1 214816715 rs17023338 G A 609.22 PASS AB=0.475;AC=1;AF=0.50;AN=2;BaseQRankSum=1.706;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.135;QD=14.86;ReadPosRankSum=0.785;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CENPF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366955 GT:AD:DP:GQ:PL 0/1:19,21:41:99:639,0,507
1 214817856 rs35378637 T C 334.68 PASS AB=0.313;AC=1;AF=0.50;AN=2;BaseQRankSum=2.492;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.813;QD=20.92;ReadPosRankSum=-0.34;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CENPF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366955 GT:AD:DP:GQ:PL 0/1:5,11:16:99:365,0,161
1 214818215 rs3748692 G A 631.17 PASS AB=0.465;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.819;DB;DP=43;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=2.1101;MQ=59.46;MQ0=0;MQRankSum=-0.126;QD=14.68;ReadPosRankSum=-0.834;SNPEFF_AMINO_ACID_CHANGE=D1768N;SNPEFF_CODON_CHANGE=Gat/Aat;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_214817900_214820743;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CENPF;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366955 GT:AD:DP:GQ:PL 0/1:20,23:43:99:661,0,567
1 214818223 rs3748693 T A 479.96 PASS AB=0.472;AC=1;AF=0.50;AN=2;BaseQRankSum=0.315;DB;DP=36;Dels=0.0;FS=1.407;HRun=2;HaplotypeScore=1.6634;MQ=59.36;MQ0=0;MQRankSum=-0.149;QD=13.33;ReadPosRankSum=-1.54;SNPEFF_AMINO_ACID_CHANGE=H1770Q;SNPEFF_CODON_CHANGE=caT/caA;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_214817900_214820743;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CENPF;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366955 GT:AD:DP:GQ:PL 0/1:17,19:36:99:510,0,495
1 214818846 rs3790646 A G 718.61 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.231;DB;DP=51;Dels=0.0;FS=1.093;HRun=2;HaplotypeScore=3.2421;MQ=59.63;MQ0=0;MQRankSum=-0.175;QD=14.09;ReadPosRankSum=-0.194;SNPEFF_AMINO_ACID_CHANGE=D1978G;SNPEFF_CODON_CHANGE=gAt/gGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_214817900_214820743;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CENPF;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366955 GT:AD:DP:GQ:PL 0/1:25,25:51:99:749,0,798
1 214818945 rs3790647 A C 1129.72 PASS AB=0.474;AC=1;AF=0.50;AN=2;BaseQRankSum=2.352;DB;DP=76;Dels=0.0;FS=0.869;HRun=0;HaplotypeScore=1.9468;MQ=60.0;MQ0=0;MQRankSum=1.896;QD=14.86;ReadPosRankSum=1.843;SNPEFF_AMINO_ACID_CHANGE=E2011A;SNPEFF_CODON_CHANGE=gAa/gCa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_214817900_214820743;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CENPF;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366955 GT:AD:DP:GQ:PL 0/1:36,40:76:99:1160,0,1077
1 214819328 rs3748695 G A 1003.71 PASS AB=0.564;AC=1;AF=0.50;AN=2;BaseQRankSum=2.445;DB;DP=78;Dels=0.0;FS=3.152;HRun=0;HaplotypeScore=0.0;MQ=59.76;MQ0=0;MQRankSum=-0.612;QD=12.87;ReadPosRankSum=-0.561;SNPEFF_AMINO_ACID_CHANGE=A2139T;SNPEFF_CODON_CHANGE=Gca/Aca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_214817900_214820743;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CENPF;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366955 GT:AD:DP:GQ:PL 0/1:44,34:78:99:1034,0,1306
1 214819587 rs12058704 A G 1360.74 PASS AB=0.474;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.42;DB;DP=95;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.51;MQ0=0;MQRankSum=1.567;QD=14.32;ReadPosRankSum=0.25;SNPEFF_AMINO_ACID_CHANGE=Q2225R;SNPEFF_CODON_CHANGE=cAg/cGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_214817900_214820743;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CENPF;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366955 GT:AD:DP:GQ:PL 0/1:45,50:95:99:1391,0,1472
1 214819980 rs3748696 C T 890.64 PASS AB=0.524;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.411;DB;DP=63;Dels=0.0;FS=6.768;HRun=1;HaplotypeScore=0.8941;MQ=59.63;MQ0=0;MQRankSum=-1.218;QD=14.14;ReadPosRankSum=-0.943;SNPEFF_AMINO_ACID_CHANGE=A2356V;SNPEFF_CODON_CHANGE=gCt/gTt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_214817900_214820743;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CENPF;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366955 GT:AD:DP:GQ:PL 0/1:33,30:63:99:921,0,1157
1 214820299 rs3748698 A G 1563.81 PASS AB=0.623;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.983;DB;DP=151;Dels=0.0;FS=4.972;HRun=1;HaplotypeScore=1.4538;MQ=59.42;MQ0=0;MQRankSum=-0.95;QD=10.36;ReadPosRankSum=-0.919;SNPEFF_AMINO_ACID_CHANGE=E2462;SNPEFF_CODON_CHANGE=gaA/gaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_214817900_214820743;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CENPF;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366955 GT:AD:DP:GQ:PL 0/1:94,57:151:99:1594,0,3070
1 214820494 rs3790648 G A 574.82 PASS AB=0.58;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.535;DB;DP=51;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=1.6642;MQ=59.63;MQ0=0;MQRankSum=0.293;QD=11.27;ReadPosRankSum=-0.899;SNPEFF_AMINO_ACID_CHANGE=L2527;SNPEFF_CODON_CHANGE=ctG/ctA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_214817900_214820743;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CENPF;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366955 GT:AD:DP:GQ:PL 0/1:29,21:51:99:605,0,880
1 214820524 rs3790649 T C 600.89 PASS AB=0.553;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.279;DB;DP=47;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.6;MQ0=0;MQRankSum=0.617;QD=12.78;ReadPosRankSum=0.485;SNPEFF_AMINO_ACID_CHANGE=L2537;SNPEFF_CODON_CHANGE=ctT/ctC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_214817900_214820743;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CENPF;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366955 GT:AD:DP:GQ:PL 0/1:26,21:47:99:631,0,864
1 214821415 rs17023384 A C 168.82 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.583;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.259;QD=14.07;ReadPosRankSum=0.779;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CENPF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366955 GT:AD:DP:GQ:PL 0/1:6,6:12:99:199,0,200
1 214821456 rs11805402 C G 99.33 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=2.037;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.034;QD=9.03;ReadPosRankSum=-0.678;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CENPF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366955 GT:AD:DP:GQ:PL 0/1:7,4:11:99:129,0,227
1 214821680 rs10494984 G C 350.05 PASS AB=0.542;AC=1;AF=0.50;AN=2;BaseQRankSum=0.463;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9469;MQ=59.03;MQ0=0;MQRankSum=-0.637;QD=14.59;ReadPosRankSum=0.753;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CENPF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366955 GT:AD:DP:GQ:PL 0/1:13,11:24:99:380,0,453
1 214821699 rs3830483 TA T 305.46 PASS AB=0.718;AC=1;AF=0.50;AN=2;BaseQRankSum=4.234;DB;DP=28;FS=0.0;HRun=2;HaplotypeScore=115.9751;IndelType=D;MQ=59.17;MQ0=0;MQRankSum=0.612;QD=10.91;ReadPosRankSum=0.941;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CENPF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366955 GT:AD:DP:GQ:PL 0/1:17,11:28:99:344,0,669
1 214821959 rs11120372 G A 757.54 PASS AB=0.511;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.351;DB;DP=47;Dels=0.0;FS=2.621;HRun=0;HaplotypeScore=0.0;MQ=59.51;MQ0=0;MQRankSum=-1.479;QD=16.12;ReadPosRankSum=-1.628;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CENPF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366955 GT:AD:DP:GQ:PL 0/1:24,23:47:99:788,0,795
1 214826196 rs335524 G A 1938.72 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9159;MQ=59.55;MQ0=0;QD=35.25;SNPEFF_AMINO_ACID_CHANGE=R128Q;SNPEFF_CODON_CHANGE=cGa/cAa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_214826171_214826332;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CENPF;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000391896 GT:AD:DP:GQ:PL 1/1:1,54:55:99:1972,144,0
1 214826364 rs335523 G A 2155.18 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.33;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CENPF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366955 GT:AD:DP:GQ:PL 1/1:0,61:61:99:2188,166,0
1 214828812 rs435043 A G 715.16 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.64;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CENPF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000391896 GT:AD:DP:GQ:PL 1/1:0,19:19:57.16:748,57,0
1 214828967 rs448989 A G 90.43 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=53.44;MQ0=0;QD=30.14;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CENPF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000391896 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:122,9,0
1 214829010 rs387535 G A 34.51 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=49.84;MQ0=0;QD=17.26;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CENPF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000391896 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:66,6,0
1 214830142 rs376776 A T 254.29 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=61.53;MQ0=0;QD=36.33;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CENPF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000391896 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:287,21,0
1 214830165 rs79230299 TA T 155.07 PASS AC=2;AF=1.00;AN=2;DB;DP=10;FS=0.0;HRun=11;HaplotypeScore=53.6716;IndelType=D;MQ=62.13;MQ0=0;QD=15.51;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CENPF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000391896 GT:AD:DP:GQ:PL 1/1:0,10:10:23.95:197,24,0
1 214830617 rs438034 A G 1809.82 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9665;MQ=60.0;MQ0=0;QD=37.7;SNPEFF_AMINO_ACID_CHANGE=R2943G;SNPEFF_CODON_CHANGE=Aga/Gga;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_214830276_214830752;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CENPF;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366955 GT:AD:DP:GQ:PL 1/1:0,47:48:99:1843,135,0
1 214830908 rs417844 A G 218.05 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.34;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CENPF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000391896 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:251,18,0
1 214837110 rs7289 C G 685.83 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.66;SNPEFF_AMINO_ACID_CHANGE=N3106K;SNPEFF_CODON_CHANGE=aaC/aaG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_214836934_214837931;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CENPF;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366955 GT:AD:DP:GQ:PL 1/1:0,21:21:54.16:719,54,0
1 215063204 rs1244994 G A 90.01 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.0;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AC114496.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408793 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:122,9,0
1 215256537 . TC T 394.60 PASS AC=2;AF=1.00;AN=2;DP=18;FS=0.0;HRun=9;HaplotypeScore=59.323;IndelType=D;MQ=61.78;MQ0=0;QD=21.92;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=KCNK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366948 GT:AD:DP:GQ:PL 1/1:2,16:18:48.02:437,48,0
1 215256888 rs61818297 G A 104.19 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.84;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=KCNK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366948 GT:AD:DP:GQ:PL 1/1:0,4:5:12.03:137,12,0
1 215368514 rs1556907 A G 1003.34 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.17;MQ0=0;QD=35.83;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=KCNK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470177 GT:AD:DP:GQ:PL 1/1:0,28:28:75.25:1036,75,0
1 215408057 rs11120527 G T 664.44 PASS AB=0.463;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.556;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.87;MQ0=0;MQRankSum=-0.013;QD=16.21;ReadPosRankSum=-0.928;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=KCNK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366948 GT:AD:DP:GQ:PL 0/1:19,22:41:99:694,0,637
1 215753355 rs11803705 T G 328.18 PASS AB=0.576;AC=1;AF=0.50;AN=2;BaseQRankSum=1.074;DB;DP=33;Dels=0.0;FS=3.764;HRun=0;HaplotypeScore=0.0;MQ=59.3;MQ0=0;MQRankSum=0.46;QD=9.94;ReadPosRankSum=-0.691;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCTD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259154 GT:AD:DP:GQ:PL 0/1:19,14:33:99:358,0,550
1 215781574 rs3767255 A G 428.83 PASS AB=0.481;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.073;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.31;MQ0=0;MQRankSum=1.432;QD=15.88;ReadPosRankSum=0.024;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCTD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259154 GT:AD:DP:GQ:PL 0/1:13,14:27:99:459,0,428
1 215793834 rs14137 G A 1159.41 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=2.512;DB;DP=91;Dels=0.0;FS=0.797;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.421;QD=12.74;ReadPosRankSum=-0.065;SNPEFF_AMINO_ACID_CHANGE=A774;SNPEFF_CODON_CHANGE=gcG/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_215793399_215795073;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCTD3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000259154 GT:AD:DP:GQ:PL 0/1:49,42:91:99:1189,0,1448
1 215848062 rs2009923 C T 403.42 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.995;DB;DP=32;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9832;MQ=60.0;MQ0=0;MQRankSum=-0.29;QD=12.61;ReadPosRankSum=0.041;SNPEFF_AMINO_ACID_CHANGE=E4397;SNPEFF_CODON_CHANGE=gaG/gaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_215847442_215848958;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USH2A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000307340 GT:AD:DP:GQ:PL 0/1:16,16:32:99:433,0,463
1 215848587 rs2797234 T C 752.14 PASS AB=0.404;AC=1;AF=0.50;AN=2;BaseQRankSum=0.011;DB;DP=47;Dels=0.0;FS=1.45;HRun=0;HaplotypeScore=0.9979;MQ=60.0;MQ0=0;MQRankSum=-0.163;QD=16.0;ReadPosRankSum=-1.442;SNPEFF_AMINO_ACID_CHANGE=T4222;SNPEFF_CODON_CHANGE=acA/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_215847442_215848958;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USH2A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000307340 GT:AD:DP:GQ:PL 0/1:19,28:47:99:782,0,602
1 215848641 rs2797235 T C 2468.63 PASS AC=2;AF=1.00;AN=2;DB;DP=75;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=4.7229;MQ=59.19;MQ0=0;QD=32.92;SNPEFF_AMINO_ACID_CHANGE=T4204;SNPEFF_CODON_CHANGE=acA/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_215847442_215848958;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USH2A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000307340 GT:AD:DP:GQ:PL 1/1:0,75:75:99:2502,196,0
1 215849044 rs4443864 C G 124.94 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.103;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.103;QD=12.49;ReadPosRankSum=2.45;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USH2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307340 GT:AD:DP:GQ:PL 0/1:5,5:10:99:155,0,178
1 215853357 rs10864183 G A 65.45 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=0.365;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.633;QD=6.54;ReadPosRankSum=-0.633;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USH2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307340 GT:AD:DP:GQ:PL 0/1:6,4:10:95.44:95,0,204
1 215853748 rs11307320 GT G 867.31 PASS AC=2;AF=1.00;AN=2;DB;DP=44;FS=0.0;HRun=12;HaplotypeScore=139.201;IndelType=D;MQ=59.83;MQ0=0;QD=19.71;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USH2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307340 GT:AD:DP:GQ:PL 1/1:5,39:44:99:909,118,0
1 215853835 rs12140451 A G 81.55 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.729;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=61.07;MQ0=0;MQRankSum=0.729;QD=8.15;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USH2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307340 GT:AD:DP:GQ:PL 0/1:6,4:10:99:112,0,173
1 215914646 rs6694510 T A 557.47 PASS AB=0.525;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.494;DB;DP=40;Dels=0.0;FS=6.591;HRun=0;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=0.975;QD=13.94;ReadPosRankSum=-0.623;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USH2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307340 GT:AD:DP:GQ:PL 0/1:21,19:40:99:587,0,764
1 215914826 rs35309576 T C 1082.42 PASS AB=0.596;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.749;DB;DP=89;Dels=0.0;FS=2.991;HRun=0;HaplotypeScore=0.0;MQ=59.53;MQ0=0;MQRankSum=1.13;QD=12.16;ReadPosRankSum=1.294;SNPEFF_AMINO_ACID_CHANGE=M3868V;SNPEFF_CODON_CHANGE=Atg/Gtg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_215914717_215914879;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USH2A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000307340 GT:AD:DP:GQ:PL 0/1:53,36:89:99:1112,0,1812
1 215916563 rs11120616 G A 1006.70 PASS AB=0.544;AC=1;AF=0.50;AN=2;BaseQRankSum=2.564;DB;DP=79;Dels=0.0;FS=0.882;HRun=1;HaplotypeScore=1.6624;MQ=60.0;MQ0=0;MQRankSum=-1.629;QD=12.74;ReadPosRankSum=-0.448;SNPEFF_AMINO_ACID_CHANGE=T3835I;SNPEFF_CODON_CHANGE=aCt/aTt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_215916519_215916677;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USH2A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000307340 GT:AD:DP:GQ:PL 0/1:43,36:79:99:1037,0,1275
1 215955937 rs6665799 T G 41.32 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=53.95;MQ0=0;MQRankSum=0.727;QD=10.33;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USH2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307340 GT:AD:DP:GQ:PL 0/1:1,3:4:30.98:71,0,31
1 215956304 rs7518466 A G 343.15 PASS AB=0.409;AC=1;AF=0.50;AN=2;BaseQRankSum=1.135;DB;DP=22;Dels=0.0;FS=2.643;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.668;QD=15.6;ReadPosRankSum=0.534;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USH2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307340 GT:AD:DP:GQ:PL 0/1:9,13:22:99:373,0,295
1 215960153 . A C 74.05 QDFilter2 AB=0.372;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.781;DP=43;Dels=0.0;FS=38.085;HRun=2;HaplotypeScore=0.5784;MQ=54.39;MQ0=0;MQRankSum=0.29;QD=1.72;ReadPosRankSum=0.058;SNPEFF_AMINO_ACID_CHANGE=C3416G;SNPEFF_CODON_CHANGE=Tgt/Ggt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_215960012_215960216;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USH2A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000307340 GT:AD:DP:GQ:PL 0/1:16,27:43:99:104,0,290
1 215960167 rs10864198 T G 482.75 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.555;DB;DP=42;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=54.25;MQ0=0;MQRankSum=0.203;QD=11.49;ReadPosRankSum=1.366;SNPEFF_AMINO_ACID_CHANGE=E3411A;SNPEFF_CODON_CHANGE=gAa/gCa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_215960012_215960216;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USH2A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000307340 GT:AD:DP:GQ:PL 0/1:21,21:42:99:513,0,592
1 216040589 rs41277196 T G 102.18 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.074;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.101;QD=7.86;ReadPosRankSum=-0.935;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USH2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307340 GT:AD:DP:GQ:PL 0/1:7,6:13:99:132,0,265
1 216073289 rs56074952 G T 201.18 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.109;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.739;QD=14.37;ReadPosRankSum=1.109;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USH2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307340 GT:AD:DP:GQ:PL 0/1:6,8:14:99:231,0,206
1 216219781 rs6657250 A G 1173.79 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.54;SNPEFF_AMINO_ACID_CHANGE=I2106T;SNPEFF_CODON_CHANGE=aTa/aCa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_216219773_216219934;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USH2A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000307340 GT:AD:DP:GQ:PL 1/1:0,35:35:87.29:1207,87,0
1 216246675 rs71556647 AG A 661.23 PASS AC=2;AF=1.00;AN=2;DB;DP=19;FS=0.0;HRun=3;HaplotypeScore=54.4918;IndelType=D;MQ=61.13;MQ0=0;QD=34.8;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USH2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307340 GT:AD:DP:GQ:PL 1/1:0,19:19:57.18:703,57,0
1 216258213 rs56222536 A G 1273.17 PASS AB=0.463;AC=1;AF=0.50;AN=2;BaseQRankSum=1.88;DB;DP=82;Dels=0.0;FS=0.992;HRun=2;HaplotypeScore=3.3972;MQ=59.77;MQ0=0;MQRankSum=0.242;QD=15.53;ReadPosRankSum=-0.084;SNPEFF_AMINO_ACID_CHANGE=I1665T;SNPEFF_CODON_CHANGE=aTc/aCc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_216258040_216258219;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USH2A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000307340 GT:AD:DP:GQ:PL 0/1:38,44:82:99:1303,0,1082
1 216270618 rs7540411 G A 237.57 PASS AB=0.718;AC=1;AF=0.50;AN=2;BaseQRankSum=0.359;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.514;QD=6.09;ReadPosRankSum=0.64;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USH2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307340 GT:AD:DP:GQ:PL 0/1:28,11:39:99:268,0,985
1 216370108 rs447102 C T 288.31 PASS AB=0.308;AC=1;AF=0.50;AN=2;BaseQRankSum=1.157;DB;DP=13;Dels=0.0;FS=5.119;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.386;QD=22.18;ReadPosRankSum=0.386;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USH2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307340 GT:AD:DP:GQ:PL 0/1:4,9:13:99:318,0,100
1 216370130 rs386851 T G 113.15 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=1.495;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.922;QD=16.16;ReadPosRankSum=-0.922;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USH2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307340 GT:AD:DP:GQ:PL 0/1:2,5:7:49.86:143,0,50
1 216371934 rs646094 A C 378.01 PASS AB=0.517;AC=1;AF=0.50;AN=2;BaseQRankSum=0.546;DB;DP=29;Dels=0.0;FS=1.485;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.633;QD=13.03;ReadPosRankSum=-0.327;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USH2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307340 GT:AD:DP:GQ:PL 0/1:15,14:29:99:408,0,510
1 216495191 rs7515253 T G 446.77 PASS AB=0.551;AC=1;AF=0.50;AN=2;BaseQRankSum=1.645;DB;DP=49;Dels=0.0;FS=9.232;HRun=0;HaplotypeScore=0.9665;MQ=60.0;MQ0=0;MQRankSum=-0.59;QD=9.12;ReadPosRankSum=-1.066;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USH2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307340 GT:AD:DP:GQ:PL 0/1:27,22:49:99:477,0,866
1 216495400 rs2089947 A G 102.30 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=0.278;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.597;QD=9.3;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USH2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307340 GT:AD:DP:GQ:PL 0/1:7,4:11:99:132,0,256
1 216496947 rs1805050 G A 989.30 PASS AB=0.458;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.51;DB;DP=59;Dels=0.0;FS=7.373;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.936;QD=16.77;ReadPosRankSum=0.449;SNPEFF_AMINO_ACID_CHANGE=T473;SNPEFF_CODON_CHANGE=acC/acT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_216496816_216497037;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USH2A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000307340 GT:AD:DP:GQ:PL 0/1:27,32:59:99:1019,0,839
1 216500830 rs1339963 G C 707.54 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.84;MQ0=0;QD=35.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USH2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307340 GT:AD:DP:GQ:PL 1/1:0,20:20:54.18:741,54,0
1 216538391 rs45500891 C T 451.21 PASS AB=0.691;AC=1;AF=0.50;AN=2;BaseQRankSum=2.668;DB;DP=55;Dels=0.0;FS=2.603;HRun=0;HaplotypeScore=0.8321;MQ=59.58;MQ0=0;MQRankSum=-0.337;QD=8.2;ReadPosRankSum=0.301;SNPEFF_AMINO_ACID_CHANGE=V230M;SNPEFF_CODON_CHANGE=Gtg/Atg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_216538295_216538427;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USH2A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000307340 GT:AD:DP:GQ:PL 0/1:38,17:55:99:481,0,1181
1 216538507 rs45594833 A G 94.32 PASS AB=0.733;AC=1;AF=0.50;AN=2;BaseQRankSum=2.415;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-2.807;QD=6.29;ReadPosRankSum=1.501;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USH2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307340 GT:AD:DP:GQ:PL 0/1:11,4:15:99:124,0,355
1 216592003 rs4253963 T C 570.52 PASS AB=0.559;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.603;DB;DP=59;Dels=0.0;FS=1.093;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.053;QD=9.67;ReadPosRankSum=0.618;SNPEFF_AMINO_ACID_CHANGE=T168;SNPEFF_CODON_CHANGE=acA/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_216591856_216592021;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USH2A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000307340 GT:AD:DP:GQ:PL 0/1:33,26:59:99:601,0,1148
1 216595306 rs10779261 C T 646.25 PASS AB=0.558;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.137;DB;DP=52;Dels=0.0;FS=1.088;HRun=0;HaplotypeScore=2.2282;MQ=58.83;MQ0=0;MQRankSum=1.621;QD=12.43;ReadPosRankSum=-0.405;SNPEFF_AMINO_ACID_CHANGE=A125T;SNPEFF_CODON_CHANGE=Gca/Aca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_216595194_216595882;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USH2A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000307340 GT:AD:DP:GQ:PL 0/1:29,23:52:99:676,0,939
1 216692669 rs945453 C T 483.72 PASS AB=0.614;AC=1;AF=0.50;AN=2;BaseQRankSum=1.205;DB;DP=44;Dels=0.0;FS=2.786;HRun=0;HaplotypeScore=1.5592;MQ=60.0;MQ0=0;MQRankSum=0.94;QD=10.99;ReadPosRankSum=-0.434;SNPEFF_AMINO_ACID_CHANGE=S257;SNPEFF_CODON_CHANGE=tcG/tcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_216692494_216692763;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ESRRG;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000463665 GT:AD:DP:GQ:PL 0/1:27,17:44:99:514,0,769
1 216737861 rs11117622 G T 66.74 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=0.55;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.937;QD=9.53;ReadPosRankSum=1.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ESRRG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354407 GT:AD:DP:GQ:PL 0/1:4,3:7:96.73:97,0,143
1 216741314 rs11572766 C T 409.13 PASS AB=0.44;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.101;DB;DP=25;Dels=0.0;FS=5.226;HRun=0;HaplotypeScore=2.0641;MQ=57.17;MQ0=0;MQRankSum=0.29;QD=16.37;ReadPosRankSum=0.174;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ESRRG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354407 GT:AD:DP:GQ:PL 0/1:11,14:25:99:439,0,348
1 216824505 rs10863261 C G 206.72 PASS AB=0.619;AC=1;AF=0.50;AN=2;BaseQRankSum=1.119;DB;DP=21;Dels=0.0;FS=5.929;HRun=0;HaplotypeScore=0.9665;MQ=58.89;MQ0=0;MQRankSum=0.27;QD=9.84;ReadPosRankSum=-2.353;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ESRRG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354407 GT:AD:DP:GQ:PL 0/1:13,8:21:99:237,0,430
1 216896444 rs2813709 A G 149.76 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.95;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ESRRG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354407 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:182,15,0
1 217665204 rs60848416 CT C 36.50 PASS AC=2;AF=1.00;AN=2;DB;DP=10;FS=0.0;HRun=17;HaplotypeScore=68.7613;IndelType=D;MQ=55.01;MQ0=0;QD=3.32;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPATCH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470014 GT:AD:DP:GQ:PL 1/1:3,5:10:15.66:78,16,0
1 217671771 rs724803 C G 1460.02 PASS AB=0.589;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.957;DB;DP=130;Dels=0.0;FS=2.297;HRun=0;HaplotypeScore=3.6408;MQ=59.65;MQ0=0;MQRankSum=0.629;QD=11.23;ReadPosRankSum=-0.942;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPATCH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366935 GT:AD:DP:GQ:PL 0/1:76,53:130:99:1490,0,2323
1 217793938 rs111668135 T TTAA 432.04 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.239;DB;DP=12;FS=0.0;HRun=0;HaplotypeScore=37.906;IndelType=I;MQ=61.78;MQ0=0;MQRankSum=0.6;QD=36.0;ReadPosRankSum=-0.289;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPATCH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366934 GT:AD:DP:GQ:PL 0/1:4,8:12:99:471,0,160
1 217822135 rs12140261 G A 295.63 PASS AB=0.45;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.279;DB;DP=20;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.8305;MQ=58.84;MQ0=0;MQRankSum=-0.684;QD=14.78;ReadPosRankSum=-0.76;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPATA17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366933 GT:AD:DP:GQ:PL 0/1:9,11:20:99:326,0,320
1 217856787 rs71301099 A AT 620.02 PASS AB=0.65;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.855;DB;DP=39;FS=0.0;HRun=7;HaplotypeScore=80.6427;IndelType=I;MQ=60.83;MQ0=0;MQRankSum=-1.418;QD=15.9;ReadPosRankSum=0.744;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPATA17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366933 GT:AD:DP:GQ:PL 0/1:18,21:39:99:659,0,274
1 217915593 rs12117870 G A 213.79 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.945;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.45;MQ0=0;MQRankSum=-0.295;QD=14.25;ReadPosRankSum=-0.412;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPATA17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366933 GT:AD:DP:GQ:PL 0/1:6,9:15:99:244,0,196
1 217947738 rs6604561 G A 1181.64 PASS AB=0.594;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.766;DB;DP=106;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.8332;MQ=59.56;MQ0=0;MQRankSum=0.811;QD=11.15;ReadPosRankSum=1.932;SNPEFF_AMINO_ACID_CHANGE=Q194;SNPEFF_CODON_CHANGE=caG/caA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_217947676_217947879;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPATA17;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366933 GT:AD:DP:GQ:PL 0/1:63,43:106:99:1212,0,2094
1 218475533 rs2251169 C T 101.81 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.866;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.036;QD=10.18;ReadPosRankSum=0.365;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RRP15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366932 GT:AD:DP:GQ:PL 0/1:6,4:10:99:132,0,224
1 218607561 . C A 47.17 QDFilter2 AB=0.738;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.833;DP=80;Dels=0.0;FS=6.463;HRun=2;HaplotypeScore=10.6616;MQ=57.66;MQ0=0;MQRankSum=-0.749;QD=0.59;ReadPosRankSum=1.376;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TGFB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366929 GT:AD:DP:GQ:PL 0/1:59,21:80:77.16:77,0,982
1 219366400 rs60036848 T TG 578.69 PASS AC=2;AF=1.00;AN=2;DB;DP=28;FS=0.0;HRun=9;HaplotypeScore=169.2565;IndelType=I;MQ=57.48;MQ0=0;QD=20.67;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LYPLAL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366927 GT:AD:DP:GQ:PL 1/1:5,21:28:59.73:621,60,0
1 219383848 rs5781096 A ACTTTTT 3533.21 PASS AC=2;AF=1.00;AN=2;DB;DP=38;FS=0.0;HRun=0;HaplotypeScore=376.5855;IndelType=I;MQ=33.29;MQ0=0;QD=92.98;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LYPLAL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366927 GT:AD:DP:GQ:PL 1/1:12,22:38:99:3533,111,0
1 219383867 rs940571 T C 1083.93 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=39.68;MQ0=0;QD=25.21;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LYPLAL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366927 GT:AD:DP:GQ:PL 1/1:0,43:43:96.27:1117,96,0
1 219383905 rs940570 A G 1717.46 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9933;MQ=46.3;MQ0=0;QD=30.67;SNPEFF_AMINO_ACID_CHANGE=I115M;SNPEFF_CODON_CHANGE=atA/atG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_219383874_219383989;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LYPLAL1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366927 GT:AD:DP:GQ:PL 1/1:0,56:56:99:1750,141,0
1 219706428 rs10746385 T C 566.67 PASS AB=0.512;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.64;DB;DP=43;Dels=0.0;FS=11.766;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=0.522;QD=13.18;ReadPosRankSum=-0.984;SNPEFF_EFFECT=INTERGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 0/1:22,21:43:99:597,0,607
1 219783279 rs79789352 T A 1826.56 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=85;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=26.12;MQ0=18;QD=21.49;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=ZC3H11B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000367211 GT:AD:DP:GQ:PL 1/1:0,85:85:99:1860,177,0
1 219836708 rs2153007 A G 1382.85 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9832;MQ=59.03;MQ0=0;QD=28.81;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AC096643.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000516431 GT:AD:DP:GQ:PL 1/1:0,48:48:99:1416,108,0
1 219836722 rs2153006 G A 1157.61 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.41;MQ0=0;QD=29.68;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AC096643.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000516431 GT:AD:DP:GQ:PL 1/1:0,39:39:90.29:1191,90,0
1 220089352 rs2231734 A C 622.14 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.633;DB;DP=40;Dels=0.0;FS=1.481;HRun=1;HaplotypeScore=0.9469;MQ=58.84;MQ0=0;MQRankSum=-0.65;QD=15.55;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SLC30A10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366926 GT:AD:DP:GQ:PL 0/1:15,25:40:99:652,0,491
1 220101133 rs79328219 C T 32.21 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=4.771;HRun=0;HaplotypeScore=0.0;MQ=51.77;MQ0=0;MQRankSum=-0.736;QD=10.74;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SLC30A10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366926 GT:AD:DP:GQ:PL 0/1:1,2:3:33.62:62,0,34
1 220142023 rs1061248 C T 113.41 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.731;QD=22.68;ReadPosRankSum=0.731;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPRS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468487 GT:AD:DP:GQ:PL 0/1:1,4:5:26.71:143,0,27
1 220142070 rs1061242 C T 236.62 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.448;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.428;QD=15.77;ReadPosRankSum=0.428;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPRS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468487 GT:AD:DP:GQ:PL 0/1:7,8:15:99:267,0,246
1 220142612 rs2270712 C T 72.35 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9997;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=18.09;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPRS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366923 GT:AD:DP:GQ:PL 0/1:1,3:4:27.97:102,0,28
1 220142671 rs3816993 T C 48.08 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.04;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPRS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366923 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
1 220145272 rs1982987 C T 141.14 PASS AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.04;MQ0=0;MQRankSum=0.736;QD=23.52;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPRS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366923 GT:AD:DP:GQ:PL 0/1:1,5:6:22.59:171,0,23
1 220145371 rs2795315 T G 2075.48 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.06;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPRS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366923 GT:AD:DP:GQ:PL 1/1:0,56:56:99:2108,157,0
1 220145584 rs1982986 C T 120.42 PASS AB=0.688;AC=1;AF=0.50;AN=2;BaseQRankSum=1.473;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=-0.227;QD=7.53;ReadPosRankSum=-0.113;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPRS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366923 GT:AD:DP:GQ:PL 0/1:11,5:16:99:150,0,349
1 220145637 rs1982985 A G 120.06 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9973;MQ=60.0;MQ0=0;MQRankSum=-0.72;QD=20.01;ReadPosRankSum=0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPRS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366923 GT:AD:DP:GQ:PL 0/1:2,4:6:62.49:150,0,62
1 220151808 rs3215088 C CAA 322.92 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.339;DB;DP=14;FS=0.0;HRun=0;HaplotypeScore=35.0499;IndelType=I;MQ=60.77;MQ0=0;MQRankSum=0.663;QD=23.07;ReadPosRankSum=0.421;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPRS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485821 GT:AD:DP:GQ:PL 0/1:7,6:14:99:362,0,301
1 220152251 rs2647438 C T 124.63 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.16;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPRS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485821 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:157,12,0
1 220152718 . G T 154.50 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.001;DP=17;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=4.8809;MQ=54.32;MQ0=0;MQRankSum=-0.91;QD=9.09;ReadPosRankSum=-0.182;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPRS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485821 GT:AD:DP:GQ:PL 1/1:4,13:17:20.99:187,21,0
1 220153332 rs3835619 T TAA 2619.42 PASS AC=2;AF=1.00;AN=2;DB;DP=50;FS=0.0;HRun=2;HaplotypeScore=123.9428;IndelType=I;MQ=61.71;MQ0=0;QD=52.39;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPRS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485821 GT:AD:DP:GQ:PL 1/1:1,46:50:99:2661,147,0
1 220154246 rs71781404 AT A 125.18 PASS AC=2;AF=1.00;AN=2;DB;DP=10;FS=0.0;HRun=12;HaplotypeScore=34.4766;IndelType=D;MQ=59.87;MQ0=0;QD=12.52;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPRS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485821 GT:AD:DP:GQ:PL 1/1:3,7:10:22.94:167,23,0
1 220154306 rs11118480 A C 48.57 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.28;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPRS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485821 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:80,6,0
1 220154602 rs1694599 T C 482.91 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.73;MQ0=0;QD=37.15;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPRS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485821 GT:AD:DP:GQ:PL 1/1:0,13:13:39.13:516,39,0
1 220154659 rs71776489 TAAA T 424.50 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.735;DB;DP=29;FS=0.0;HRun=17;HaplotypeScore=225.0324;IndelType=D;MQ=54.07;MQ0=0;MQRankSum=1.156;QD=14.64;ReadPosRankSum=1.349;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPRS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485821 GT:AD:DP:GQ:PL 1/1:8,19:29:46.11:467,46,0
1 220154768 rs1061160 C T 448.43 PASS AB=0.63;AC=1;AF=0.50;AN=2;BaseQRankSum=0.547;DB;DP=54;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.94;MQ0=0;MQRankSum=0.287;QD=8.3;ReadPosRankSum=-1.215;SNPEFF_AMINO_ACID_CHANGE=Q1135;SNPEFF_CODON_CHANGE=caG/caA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_220154720_220154799;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPRS;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366923 GT:AD:DP:GQ:PL 0/1:34,20:54:99:478,0,1131
1 220155920 rs2133194 G A 99.22 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.368;DB;DP=8;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.8941;MQ=57.05;MQ0=0;MQRankSum=0.421;QD=12.4;ReadPosRankSum=0.922;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPRS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366923 GT:AD:DP:GQ:PL 0/1:4,4:8:99:129,0,130
1 220156090 rs2647462 T C 3058.51 PASS AC=2;AF=1.00;AN=2;DB;DP=88;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.734;MQ=59.74;MQ0=0;QD=34.76;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPRS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366923 GT:AD:DP:GQ:PL 1/1:0,88:88:99:3092,238,0
1 220156427 rs1391566 T C 282.30 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.705;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.38;QD=17.64;ReadPosRankSum=-1.139;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPRS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366923 GT:AD:DP:GQ:PL 0/1:6,10:16:99:312,0,205
1 220160360 rs2647435 A G 586.36 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPRS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366923 GT:AD:DP:GQ:PL 1/1:0,18:18:54.13:619,54,0
1 220160433 rs2647434 A G 1612.77 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.0;DB;DP=48;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.5733;MQ=58.55;MQ0=0;MQRankSum=1.582;QD=33.6;ReadPosRankSum=1.431;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPRS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366923 GT:AD:DP:GQ:PL 1/1:1,47:48:99:1646,123,0
1 220162195 rs2254494 T C 947.47 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.44;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPRS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366923 GT:AD:DP:GQ:PL 1/1:0,26:26:72.22:980,72,0
1 220174732 rs1694575 C T 130.62 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.66;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPRS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366923 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:163,12,0
1 220174740 rs4379680 C T 135.02 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.76;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPRS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366923 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:168,12,0
1 220178717 rs113053091 T TA 1368.76 PASS AC=2;AF=1.00;AN=2;DB;DP=39;FS=0.0;HRun=3;HaplotypeScore=87.5697;IndelType=I;MQ=59.93;MQ0=0;QD=35.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPRS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366923 GT:AD:DP:GQ:PL 1/1:5,34:39:99:1411,102,0
1 220179322 rs2647420 A T 274.55 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPRS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366923 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:308,24,0
1 220184150 rs67844648 CA C 95.97 PASS AC=2;AF=1.00;AN=2;DB;DP=11;FS=0.0;HRun=17;HaplotypeScore=64.8416;IndelType=D;MQ=59.88;MQ0=0;QD=8.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPRS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366923 GT:AD:DP:GQ:PL 1/1:2,8:11:25.23:138,25,0
1 220192495 rs2245457 C G 839.80 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.17;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPRS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366923 GT:AD:DP:GQ:PL 1/1:0,22:22:63.21:873,63,0
1 220197545 rs2577159 C T 320.33 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.59;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPRS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366923 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:353,27,0
1 220197625 rs2230301 G T 960.24 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9332;MQ=60.0;MQ0=0;QD=32.01;SNPEFF_AMINO_ACID_CHANGE=D308E;SNPEFF_CODON_CHANGE=gaC/gaA;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_220197606_220197798;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPRS;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366923 GT:AD:DP:GQ:PL 1/1:0,30:30:72.24:993,72,0
1 220203596 rs2270711 T C 70.22 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.731;QD=14.04;ReadPosRankSum=0.731;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPRS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477030 GT:AD:DP:GQ:PL 0/1:1,4:5:29.19:100,0,29
1 220205943 rs2789816 G A 691.07 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPRS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366923 GT:AD:DP:GQ:PL 1/1:0,19:19:54.18:724,54,0
1 220205980 rs2577138 A C 360.18 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.74;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPRS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366923 GT:AD:DP:GQ:PL 1/1:0,11:11:30.10:393,30,0
1 220206690 rs2577137 G C 89.85 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.21;MQ0=0;QD=17.97;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPRS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366923 GT:AD:DP:GQ:PL 1/1:0,5:5:9.03:122,9,0
1 220207017 rs2647456 C T 1093.16 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=59.25;MQ0=0;QD=35.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPRS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366923 GT:AD:DP:GQ:PL 1/1:0,31:31:84.25:1126,84,0
1 220208049 rs2577136 C T 51.16 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPRS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366923 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
1 220208154 rs2789817 C A 451.39 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPRS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366923 GT:AD:DP:GQ:PL 1/1:0,13:13:36.12:484,36,0
1 220208492 rs2647454 T C 134.96 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.74;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPRS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366923 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:167,12,0
1 220231180 rs34887640 CT C 467.32 PASS AB=0.732;AC=1;AF=0.50;AN=2;BaseQRankSum=4.101;DB;DP=41;FS=1.242;HRun=1;HaplotypeScore=119.0581;IndelType=D;MQ=59.44;MQ0=0;MQRankSum=1.502;QD=11.4;ReadPosRankSum=-0.69;SNPEFF_EFFECT=SPLICE_SITE_DONOR;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BPNT1;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000302686 GT:AD:DP:GQ:PL 0/1:26,15:41:99:506,0,1125
1 220232797 rs904328 C T 43.97 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=14.66;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BPNT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463953 GT:AD:DP:GQ:PL 0/1:1,2:3:32.73:74,0,33
1 220307676 rs35775533 A G 102.85 PASS AB=0.762;AC=1;AF=0.50;AN=2;BaseQRankSum=1.445;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.89;MQ0=0;MQRankSum=1.032;QD=4.9;ReadPosRankSum=0.206;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IARS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302637 GT:AD:DP:GQ:PL 0/1:16,5:21:99:133,0,556
1 220314945 rs10442693 G A 53.64 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.82;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IARS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000488777 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:85,6,0
1 220772897 rs2589592 A G 35.98 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.99;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MARK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366917 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:67,6,0
1 220789236 rs2786599 C T 1328.85 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.22;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MARK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366917 GT:AD:DP:GQ:PL 1/1:0,40:40:99:1362,105,0
1 220789355 rs67840018 AT A 540.99 PASS AC=2;AF=1.00;AN=2;DB;DP=36;FS=0.0;HRun=7;HaplotypeScore=184.4856;IndelType=D;MQ=60.86;MQ0=0;QD=15.03;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MARK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366917 GT:AD:DP:GQ:PL 1/1:14,22:36:74.54:583,75,0
1 220789362 rs12137627 T A 108.53 HaplotypeScoreFilter13 AC=2;AF=1.00;AN=2;BaseQRankSum=1.867;DB;DP=30;Dels=0.0;FS=0.0;HRun=10;HaplotypeScore=20.0641;MQ=61.03;MQ0=0;MQRankSum=-0.138;QD=3.62;ReadPosRankSum=1.383;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MARK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366917 GT:AD:DP:GQ:PL 1/1:3,27:30:15.02:141,15,0
1 220808921 rs10746403 T C 454.21 PASS AB=0.543;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.422;DB;DP=46;Dels=0.0;FS=1.358;HRun=0;HaplotypeScore=0.0;MQ=58.99;MQ0=0;MQRankSum=0.64;QD=9.87;ReadPosRankSum=-0.284;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MARK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366917 GT:AD:DP:GQ:PL 0/1:25,21:46:99:484,0,763
1 220824115 rs12123306 G C 538.39 PASS AB=0.578;AC=1;AF=0.50;AN=2;BaseQRankSum=0.195;DB;DP=46;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=1.9648;MQ=58.99;MQ0=0;MQRankSum=1.138;QD=11.7;ReadPosRankSum=-0.839;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MARK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366917 GT:AD:DP:GQ:PL 0/1:26,19:46:99:568,0,890
1 220825523 rs3737296 A G 466.11 PASS AB=0.628;AC=1;AF=0.50;AN=2;BaseQRankSum=0.453;DB;DP=43;Dels=0.0;FS=1.789;HRun=0;HaplotypeScore=0.9867;MQ=59.46;MQ0=0;MQRankSum=-0.35;QD=10.84;ReadPosRankSum=1.955;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MARK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366917 GT:AD:DP:GQ:PL 0/1:27,16:43:99:496,0,839
1 220935081 rs2275575 G A 635.35 PASS AB=0.523;AC=1;AF=0.50;AN=2;BaseQRankSum=3.664;DB;DP=44;Dels=0.0;FS=6.74;HRun=0;HaplotypeScore=0.9578;MQ=59.58;MQ0=0;MQRankSum=0.793;QD=14.44;ReadPosRankSum=1.322;SNPEFF_AMINO_ACID_CHANGE=A176;SNPEFF_CODON_CHANGE=gcG/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_220935000_220935162;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MOSC2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000359316 GT:AD:DP:GQ:PL 0/1:23,21:44:99:665,0,672
1 220936568 rs11118597 G A 61.22 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.21;MQ0=0;MQRankSum=0.358;QD=12.24;ReadPosRankSum=-1.231;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MOSC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000496078 GT:AD:DP:GQ:PL 0/1:2,3:5:61.73:91,0,62
1 220970028 rs2642438 A G 508.27 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.24;SNPEFF_AMINO_ACID_CHANGE=T165A;SNPEFF_CODON_CHANGE=Acc/Gcc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_220969985_220970147;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MOSC1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366910 GT:AD:DP:GQ:PL 1/1:0,18:18:45.12:541,45,0
1 220986516 rs12144830 C G 1132.11 PASS AB=0.541;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.587;DB;DP=85;Dels=0.0;FS=6.809;HRun=3;HaplotypeScore=1.873;MQ=59.46;MQ0=0;MQRankSum=-0.935;QD=13.32;ReadPosRankSum=0.214;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MOSC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443880 GT:AD:DP:GQ:PL 0/1:46,39:85:99:1162,0,1383
1 221912361 rs1141714 T C 811.75 PASS AB=0.492;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.365;DB;DP=63;Dels=0.0;FS=7.004;HRun=0;HaplotypeScore=3.2897;MQ=59.63;MQ0=0;MQRankSum=-1.539;QD=12.88;ReadPosRankSum=1.237;SNPEFF_AMINO_ACID_CHANGE=E187;SNPEFF_CODON_CHANGE=gaA/gaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_221912276_221912783;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DUSP10;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000418487 GT:AD:DP:GQ:PL 0/1:29,30:63:99:842,0,826
1 222697088 rs3748662 G A 123.03 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.983;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.047;QD=6.83;ReadPosRankSum=-2.295;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HHIPL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343410 GT:AD:DP:GQ:PL 0/1:12,6:18:99:153,0,401
1 222700416 rs1487523 C T 314.77 PASS AB=0.313;AC=1;AF=0.50;AN=2;BaseQRankSum=0.113;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.55;MQ0=0;MQRankSum=-0.453;QD=19.67;ReadPosRankSum=-0.113;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HHIPL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343410 GT:AD:DP:GQ:PL 0/1:5,11:16:99:345,0,143
1 222705270 rs4846373 T C 276.10 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=0.56;DB;DP=22;Dels=0.0;FS=2.43;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.615;QD=12.55;ReadPosRankSum=1.22;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HHIPL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343410 GT:AD:DP:GQ:PL 0/1:12,10:22:99:306,0,437
1 222713503 rs3748664 C G 733.42 PASS AB=0.432;AC=1;AF=0.50;AN=2;BaseQRankSum=0.064;DB;DP=44;Dels=0.0;FS=15.45;HRun=1;HaplotypeScore=1.5317;MQ=59.48;MQ0=0;MQRankSum=-0.674;QD=16.67;ReadPosRankSum=0.801;SNPEFF_AMINO_ACID_CHANGE=T433;SNPEFF_CODON_CHANGE=acG/acC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_222713352_222713683;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HHIPL2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000343410 GT:AD:DP:GQ:PL 0/1:19,25:44:99:763,0,527
1 222713631 rs3748666 G C 612.01 PASS AB=0.588;AC=1;AF=0.50;AN=2;BaseQRankSum=1.177;DB;DP=51;Dels=0.0;FS=2.422;HRun=0;HaplotypeScore=0.0;MQ=59.55;MQ0=0;MQRankSum=-0.431;QD=12.0;ReadPosRankSum=1.388;SNPEFF_AMINO_ACID_CHANGE=H391D;SNPEFF_CODON_CHANGE=Cat/Gat;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_222713352_222713683;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HHIPL2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000343410 GT:AD:DP:GQ:PL 0/1:30,21:51:99:642,0,970
1 222713750 rs3828079 G A 261.19 PASS AB=0.438;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.329;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.423;QD=16.32;ReadPosRankSum=-0.106;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HHIPL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343410 GT:AD:DP:GQ:PL 0/1:7,9:16:99:291,0,240
1 222715139 rs35455442 C A 42.20 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=47.12;MQ0=0;QD=21.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HHIPL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343410 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:73,6,0
1 222715247 rs11487812 A G 286.36 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=0.38;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.054;QD=17.9;ReadPosRankSum=0.922;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HHIPL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343410 GT:AD:DP:GQ:PL 0/1:6,10:16:99:316,0,191
1 222717698 rs17163185 T C 39.85 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.026;QD=9.96;ReadPosRankSum=1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HHIPL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343410 GT:AD:DP:GQ:PL 0/1:2,2:4:63.16:70,0,63
1 222721288 rs4846382 C T 425.81 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.748;DB;DP=42;Dels=0.0;FS=1.247;HRun=0;HaplotypeScore=1.9559;MQ=59.45;MQ0=0;MQRankSum=-0.965;QD=10.14;ReadPosRankSum=-1.672;SNPEFF_AMINO_ACID_CHANGE=L33;SNPEFF_CODON_CHANGE=ttG/ttA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_222721066_222721445;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HHIPL2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000343410 GT:AD:DP:GQ:PL 0/1:24,18:42:99:456,0,790
1 222734662 rs149239943 TC T 236.68 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=1.89;DB;DP=20;FS=3.056;HRun=1;HaplotypeScore=50.8782;IndelType=D;MQ=56.45;MQ0=0;MQRankSum=-1.582;QD=11.83;ReadPosRankSum=0.887;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAF1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000391883 GT:AD:DP:GQ:PL 0/1:12,8:20:99:276,0,501
1 222734803 rs1134898 G C 807.31 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.081;DB;DP=45;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=-3.093;QD=17.94;ReadPosRankSum=0.29;SNPEFF_AMINO_ACID_CHANGE=G267;SNPEFF_CODON_CHANGE=ggC/ggG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_222734706_222734860;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAF1A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366890 GT:AD:DP:GQ:PL 0/1:18,27:45:99:837,0,506
1 222736405 rs11485179 A G 357.62 PASS AB=0.542;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.579;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=60.0;MQ0=0;MQRankSum=-0.29;QD=14.9;ReadPosRankSum=2.317;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAF1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000391883 GT:AD:DP:GQ:PL 0/1:13,11:24:99:388,0,478
1 222737265 rs35877231 G T 259.21 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.03;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAF1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000480065 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:292,21,0
1 222737568 rs3008640 C T 621.91 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.58;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAF1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000480065 GT:AD:DP:GQ:PL 1/1:0,17:17:48.16:655,48,0
1 222742676 rs4846766 T C 39.85 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.026;QD=9.96;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAF1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465263 GT:AD:DP:GQ:PL 0/1:2,2:4:66.54:70,0,67
1 222751034 rs2936033 T C 232.76 PASS AB=0.609;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.354;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.85;QD=10.12;ReadPosRankSum=-0.535;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAF1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000350027 GT:AD:DP:GQ:PL 0/1:14,9:23:99:263,0,481
1 222761601 rs1024065 T C 120.94 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.731;QD=24.19;ReadPosRankSum=-0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAF1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000350027 GT:AD:DP:GQ:PL 0/1:1,4:5:27.60:151,0,28
1 222761649 rs4525045 C A 171.03 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.318;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.635;QD=10.69;ReadPosRankSum=0.953;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAF1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000350027 GT:AD:DP:GQ:PL 0/1:9,7:16:99:201,0,310
1 222798106 rs3008617 G A 795.71 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.6;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MIA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000320831 GT:AD:DP:GQ:PL 1/1:0,23:23:60.20:829,60,0
1 222802006 rs2936053 A G 4517.92 PASS AC=2;AF=1.00;AN=2;DB;DP=128;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.49;MQ0=0;QD=35.3;SNPEFF_AMINO_ACID_CHANGE=K482E;SNPEFF_CODON_CHANGE=Aag/Gag;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_222800917_222803731;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MIA3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000320831 GT:AD:DP:GQ:PL 1/1:0,128:128:99:4518,340,0
1 222802376 rs2936052 A G 1259.74 PASS AB=0.419;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.052;DB;DP=74;Dels=0.0;FS=5.322;HRun=0;HaplotypeScore=0.9159;MQ=59.75;MQ0=0;MQRankSum=0.909;QD=17.02;ReadPosRankSum=0.504;SNPEFF_AMINO_ACID_CHANGE=K605R;SNPEFF_CODON_CHANGE=aAa/aGa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_222800917_222803731;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MIA3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000320831 GT:AD:DP:GQ:PL 0/1:31,43:74:99:1290,0,1000
1 222802803 rs3748626 T G 848.61 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.418;DB;DP=63;Dels=0.0;FS=1.032;HRun=3;HaplotypeScore=0.0;MQ=59.63;MQ0=0;MQRankSum=-0.726;QD=13.47;ReadPosRankSum=-1.183;SNPEFF_AMINO_ACID_CHANGE=P747;SNPEFF_CODON_CHANGE=ccT/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_222800917_222803731;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MIA3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000320831 GT:AD:DP:GQ:PL 0/1:28,35:63:99:879,0,904
1 222802926 rs3008620 C T 1426.37 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.84;MQ0=0;QD=35.66;SNPEFF_AMINO_ACID_CHANGE=S788;SNPEFF_CODON_CHANGE=agC/agT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_222800917_222803731;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MIA3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000320831 GT:AD:DP:GQ:PL 1/1:0,39:40:99:1459,111,0
1 222803204 rs2936051 A G 177.29 PASS AB=0.632;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.549;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9734;MQ=60.0;MQ0=0;MQRankSum=0.803;QD=8.86;ReadPosRankSum=-1.733;SNPEFF_AMINO_ACID_CHANGE=E881G;SNPEFF_CODON_CHANGE=gAg/gGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_222800917_222803731;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MIA3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000320831 GT:AD:DP:GQ:PL 0/1:12,7:20:99:207,0,434
1 222805698 rs3008622 T G 945.62 PASS AB=0.365;AC=1;AF=0.50;AN=2;BaseQRankSum=1.445;DB;DP=52;Dels=0.0;FS=1.366;HRun=2;HaplotypeScore=0.0;MQ=58.83;MQ0=0;MQRankSum=-0.293;QD=18.19;ReadPosRankSum=-0.556;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MIA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000320831 GT:AD:DP:GQ:PL 0/1:19,33:52:99:976,0,566
1 222806218 rs17163345 A G 228.28 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.34;QD=15.22;ReadPosRankSum=-0.652;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MIA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000320831 GT:AD:DP:GQ:PL 0/1:7,8:15:99:258,0,236
1 222817799 rs17531007 C T 180.23 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.633;DB;DP=10;Dels=0.0;FS=3.332;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.741;QD=18.02;ReadPosRankSum=0.741;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MIA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000320831 GT:AD:DP:GQ:PL 0/1:4,6:10:83.87:210,0,84
1 222821211 rs61824282 C T 245.31 PASS AB=0.529;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.491;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.818;QD=14.43;ReadPosRankSum=0.241;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MIA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470521 GT:AD:DP:GQ:PL 0/1:9,8:17:99:275,0,325
1 222823529 rs17465637 A C 594.15 PASS AB=0.588;AC=1;AF=0.50;AN=2;BaseQRankSum=3.837;DB;DP=51;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.55;MQ0=0;MQRankSum=0.584;QD=11.65;ReadPosRankSum=0.679;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MIA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470521 GT:AD:DP:GQ:PL 0/1:30,21:51:99:624,0,936
1 222823738 . GT G 135.38 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.942;DP=24;FS=0.0;HRun=14;HaplotypeScore=136.7897;IndelType=D;MQ=58.05;MQ0=0;MQRankSum=0.404;QD=5.64;ReadPosRankSum=0.269;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MIA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467190 GT:AD:DP:GQ:PL 1/1:16,8:24:7.67:176,8,0
1 222823743 rs67180937 T G 128.12 HaplotypeScoreFilter13 AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=0.105;DB;DP=24;Dels=0.0;FS=2.326;HRun=0;HaplotypeScore=13.2702;MQ=58.05;MQ0=0;MQRankSum=0.595;QD=5.34;ReadPosRankSum=0.175;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MIA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467190 GT:AD:DP:GQ:PL 0/1:18,6:24:99:158,0,153
1 222825403 rs3002150 G A 966.73 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.8;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MIA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467190 GT:AD:DP:GQ:PL 1/1:0,27:27:72.24:1000,72,0
1 222825717 rs10495198 T C 302.20 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=2.137;DB;DP=24;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.498;QD=12.59;ReadPosRankSum=0.615;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MIA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467190 GT:AD:DP:GQ:PL 0/1:14,10:24:99:332,0,503
1 222825761 rs2936019 G A 452.42 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.32;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MIA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467190 GT:AD:DP:GQ:PL 1/1:0,14:14:39.12:485,39,0
1 222826481 rs2291832 G A 591 PASS AB=0.513;AC=1;AF=0.50;AN=2;BaseQRankSum=3.414;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.52;MQ0=0;MQRankSum=0.211;QD=15.15;ReadPosRankSum=1.054;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MIA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467190 GT:AD:DP:GQ:PL 0/1:20,19:39:99:621,0,510
1 222832295 rs2291834 T C 317.72 PASS AB=0.421;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.197;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.206;QD=16.72;ReadPosRankSum=1.115;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MIA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284471 GT:AD:DP:GQ:PL 0/1:8,11:19:99:348,0,263
1 222833601 rs3002153 T C 1304.26 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.7653;MQ=59.45;MQ0=0;QD=31.05;SNPEFF_AMINO_ACID_CHANGE=P1627;SNPEFF_CODON_CHANGE=ccT/ccC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_222833519_222833656;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MIA3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000320831 GT:AD:DP:GQ:PL 1/1:0,42:42:99:1337,102,0
1 222837594 rs2270707 G A 382.73 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.615;DB;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.15;MQ0=0;MQRankSum=-0.231;QD=17.4;ReadPosRankSum=-0.231;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AIDA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340020 GT:AD:DP:GQ:PL 0/1:10,12:22:99:413,0,349
1 222837939 rs17465982 G A 45.13 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.57;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AIDA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340020 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:76,6,0
1 222838216 rs2936026 C T 1393.86 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=1.6671;MQ=58.58;MQ0=0;QD=30.3;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AIDA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340020 GT:AD:DP:GQ:PL 1/1:1,45:46:99:1427,114,0
1 222846882 rs12138316 G A 129.93 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.16;MQ0=0;QD=32.48;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AIDA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340020 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:162,12,0
1 222860734 rs3008638 C T 49.99 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=16.66;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AIDA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340020 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:81,6,0
1 222919748 rs2378606 G A 432.20 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.02;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM177B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360827 GT:AD:DP:GQ:PL 1/1:0,12:12:36.12:465,36,0
1 222919895 rs2378607 T G 2379.20 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;QD=36.6;SNPEFF_AMINO_ACID_CHANGE=I3S;SNPEFF_CODON_CHANGE=aTt/aGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_222919873_222920061;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM177B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000360827 GT:AD:DP:GQ:PL 1/1:0,65:65:99:2412,178,0
1 222923001 rs2068814 A G 457.60 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.33;MQ0=0;QD=32.69;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM177B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000434700 GT:AD:DP:GQ:PL 1/1:0,14:14:42.12:491,42,0
1 222923351 rs6683071 A G 1341.72 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.82;SNPEFF_AMINO_ACID_CHANGE=Q143R;SNPEFF_CODON_CHANGE=cAa/cGa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_222923263_222923538;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM177B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000360827 GT:AD:DP:GQ:PL 1/1:0,45:45:99:1375,108,0
1 223152868 rs1815607 G A 1620.88 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.69;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=DISP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284476 GT:AD:DP:GQ:PL 1/1:0,43:43:99:1654,123,0
1 223156214 rs2926160 C T 90.38 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.13;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=DISP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360254 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:122,9,0
1 223156382 rs2926159 C T 2322.82 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.734;MQ=59.65;MQ0=0;QD=35.19;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=DISP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360254 GT:AD:DP:GQ:PL 1/1:0,66:66:99:2356,175,0
1 223156653 rs4388710 C T 170.44 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.09;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=DISP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360254 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:203,15,0
1 223176275 rs61738819 G A 1079.81 PASS AB=0.543;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.744;DB;DP=81;Dels=0.0;FS=1.905;HRun=1;HaplotypeScore=0.9789;MQ=59.48;MQ0=0;MQRankSum=-0.668;QD=13.33;ReadPosRankSum=0.507;SNPEFF_AMINO_ACID_CHANGE=V512;SNPEFF_CODON_CHANGE=gtG/gtA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_223175727_223179337;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=DISP1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000284476 GT:AD:DP:GQ:PL 0/1:44,37:81:99:1110,0,1294
1 223178478 rs9441940 G A 1403.76 PASS AB=0.416;AC=1;AF=0.50;AN=2;BaseQRankSum=4.419;DB;DP=77;Dels=0.0;FS=2.03;HRun=0;HaplotypeScore=0.0;MQ=59.4;MQ0=0;MQRankSum=-1.018;QD=18.23;ReadPosRankSum=0.098;SNPEFF_AMINO_ACID_CHANGE=A1247T;SNPEFF_CODON_CHANGE=Gct/Act;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_223175727_223179337;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=DISP1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000284476 GT:AD:DP:GQ:PL 0/1:32,45:77:99:1434,0,914
1 223178561 rs9441941 A C 3443.93 PASS AC=2;AF=1.00;AN=2;DB;DP=110;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=1.445;MQ=59.79;MQ0=0;QD=31.31;SNPEFF_AMINO_ACID_CHANGE=P1274;SNPEFF_CODON_CHANGE=ccA/ccC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_223175727_223179337;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=DISP1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000284476 GT:AD:DP:GQ:PL 1/1:0,109:110:99:3444,271,0
1 223283910 rs7512943 A G 2307.33 PASS AC=2;AF=1.00;AN=2;DB;DP=69;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.73;MQ0=0;QD=32.96;SNPEFF_AMINO_ACID_CHANGE=F822L;SNPEFF_CODON_CHANGE=Ttc/Ctc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_223283707_223286377;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TLR5;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000342210 GT:AD:DP:GQ:PL 1/1:0,69:69:99:2340,175,0
1 223284528 rs5744174 A G 533.04 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.205;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.527;QD=13.33;ReadPosRankSum=0.446;SNPEFF_AMINO_ACID_CHANGE=F616L;SNPEFF_CODON_CHANGE=Ttc/Ctc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_223283707_223286377;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TLR5;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000342210 GT:AD:DP:GQ:PL 0/1:20,20:40:99:563,0,671
1 223284599 rs2072493 T C 285.68 PASS AB=0.476;AC=1;AF=0.50;AN=2;BaseQRankSum=0.106;DB;DP=21;Dels=0.0;FS=4.123;HRun=0;HaplotypeScore=1.8633;MQ=60.0;MQ0=0;MQRankSum=-0.599;QD=13.6;ReadPosRankSum=-1.584;SNPEFF_AMINO_ACID_CHANGE=N592S;SNPEFF_CODON_CHANGE=aAt/aGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_223283707_223286377;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TLR5;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000342210 GT:AD:DP:GQ:PL 0/1:10,11:21:99:316,0,346
1 223712863 rs75851519 C A 381.39 PASS AB=0.48;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.529;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.626;QD=15.26;ReadPosRankSum=-0.897;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CAPN8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366872 GT:AD:DP:GQ:PL 0/1:12,13:25:99:411,0,399
1 223716349 rs4072246 G A 772.49 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.79;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CAPN8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366872 GT:AD:DP:GQ:PL 1/1:0,21:21:60.20:805,60,0
1 223716508 rs4072247 C T 1035.77 PASS AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=3.494;DB;DP=76;Dels=0.0;FS=0.89;HRun=2;HaplotypeScore=1.2434;MQ=59.39;MQ0=0;MQRankSum=0.228;QD=13.63;ReadPosRankSum=0.366;SNPEFF_AMINO_ACID_CHANGE=E137K;SNPEFF_CODON_CHANGE=Gaa/Aaa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_223716470_223716528;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CAPN8;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000430824 GT:AD:DP:GQ:PL 0/1:40,36:76:99:1066,0,1033
1 223717379 rs61823524 A C 48.72 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CAPN8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366872 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:80,6,0
1 223717484 rs34158997 G A 133.96 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.49;SNPEFF_AMINO_ACID_CHANGE=L111;SNPEFF_CODON_CHANGE=ctC/ctT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_223717429_223717545;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CAPN8;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000430824 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:166,12,0
1 223718462 rs61823525 G A 135.44 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.86;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CAPN8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366872 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:168,12,0
1 223718518 rs61823552 C A 623.99 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.67;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CAPN8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366872 GT:AD:DP:GQ:PL 1/1:0,18:18:48.16:657,48,0
1 223718651 rs61823553 G A 749.95 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=1.024;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.158;QD=20.83;ReadPosRankSum=-0.285;SNPEFF_AMINO_ACID_CHANGE=T45M;SNPEFF_CODON_CHANGE=aCg/aTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_223718593_223718661;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CAPN8;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000430824 GT:AD:DP:GQ:PL 0/1:12,24:36:99:780,0,353
1 223718670 rs61823554 G A 663.25 PASS AB=0.31;AC=1;AF=0.50;AN=2;BaseQRankSum=0.495;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.448;QD=22.87;ReadPosRankSum=0.919;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CAPN8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366872 GT:AD:DP:GQ:PL 0/1:9,20:29:99:693,0,253
1 223722609 rs76861777 G A 495.91 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.579;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.95;MQ0=0;MQRankSum=0.25;QD=19.84;ReadPosRankSum=0.028;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CAPN8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366872 GT:AD:DP:GQ:PL 0/1:10,15:25:99:526,0,332
1 223722646 rs34630115 T TA 1069.40 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.141;DB;DP=47;FS=0.0;HRun=12;HaplotypeScore=233.2766;IndelType=I;MQ=59.05;MQ0=0;MQRankSum=-0.38;QD=22.75;ReadPosRankSum=-1.395;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CAPN8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366872 GT:AD:DP:GQ:PL 1/1:6,41:47:99:1111,101,0
1 223722780 rs34606532 G A 940.81 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=3.528;DB;DP=70;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.179;MQ=58.67;MQ0=0;MQRankSum=0.95;QD=13.44;ReadPosRankSum=-0.853;SNPEFF_AMINO_ACID_CHANGE=R538*;SNPEFF_CODON_CHANGE=Cga/Tga;SNPEFF_EFFECT=STOP_GAINED;SNPEFF_EXON_ID=exon_1_223722759_223722925;SNPEFF_FUNCTIONAL_CLASS=NONSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CAPN8;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000366872 GT:AD:DP:GQ:PL 0/1:40,30:70:99:971,0,1112
1 223810318 rs61825177 G A 51.22 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.61;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CAPN8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000525760 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
1 223813586 rs35539373 G T 786.33 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.22;MQ0=0;QD=32.76;SNPEFF_AMINO_ACID_CHANGE=S245Y;SNPEFF_CODON_CHANGE=tCc/tAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_223813507_223813590;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CAPN8;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366872 GT:AD:DP:GQ:PL 1/1:0,24:24:63.19:819,63,0
1 223814543 rs35469136 T G 83.97 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.99;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CAPN8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000525760 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:116,9,0
1 223814671 rs61825208 A T 595.14 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.5592;MQ=60.0;MQ0=0;QD=33.06;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CAPN8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000525760 GT:AD:DP:GQ:PL 1/1:0,18:18:54.11:628,54,0
1 223815575 rs34187970 G A 247.27 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.751;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.751;QD=27.47;ReadPosRankSum=-0.751;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CAPN8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366872 GT:AD:DP:GQ:PL 1/1:1,8:9:21.07:280,21,0
1 223816322 rs66602040 A G 643.06 PASS AB=0.611;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.882;DB;DP=54;Dels=0.0;FS=1.275;HRun=0;HaplotypeScore=0.0;MQ=59.57;MQ0=0;MQRankSum=-2.3;QD=11.91;ReadPosRankSum=1.137;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CAPN8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366872 GT:AD:DP:GQ:PL 0/1:33,21:54:99:673,0,1041
1 223816347 rs61825210 A G 682.35 PASS AB=0.567;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.972;DB;DP=67;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.66;MQ0=0;MQRankSum=-0.194;QD=10.18;ReadPosRankSum=-0.581;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CAPN8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366872 GT:AD:DP:GQ:PL 0/1:38,29:67:99:712,0,1061
1 223816455 rs183269164 G A 645.78 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.203;DB;DP=44;Dels=0.0;FS=8.29;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.377;QD=14.68;ReadPosRankSum=-0.012;SNPEFF_AMINO_ACID_CHANGE=A112V;SNPEFF_CODON_CHANGE=gCc/gTc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_223816364_223816482;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CAPN8;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366872 GT:AD:DP:GQ:PL 0/1:22,22:44:99:676,0,608
1 223816577 rs61825211 T C 47.32 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.754;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.937;QD=6.76;ReadPosRankSum=-1.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CAPN8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366872 GT:AD:DP:GQ:PL 0/1:4,3:7:77.31:77,0,145
1 223853440 rs10916015 A G 149.55 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.91;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CAPN8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366872 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:182,15,0
1 223900408 rs25655 C G 119.94 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=19.99;SNPEFF_AMINO_ACID_CHANGE=D22E;SNPEFF_CODON_CHANGE=gaC/gaG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_223900034_223900579;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAPN2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000295006 GT:AD:DP:GQ:PL 1/1:0,6:6:12.04:152,12,0
1 223905532 rs3738383 G A 888.70 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.55;SNPEFF_AMINO_ACID_CHANGE=L102;SNPEFF_CODON_CHANGE=ctG/ctA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_223905464_223905533;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAPN2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000295006 GT:AD:DP:GQ:PL 1/1:0,25:25:69.22:922,69,0
1 223931648 rs1222137 T C 459.54 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.29;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAPN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295006 GT:AD:DP:GQ:PL 1/1:0,12:12:36.12:493,36,0
1 223933313 rs1222134 A T 223.15 PASS AB=0.111;AC=1;AF=0.50;AN=2;BaseQRankSum=0.751;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.751;QD=24.79;ReadPosRankSum=0.751;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAPN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295006 GT:AD:DP:GQ:PL 0/1:1,8:9:14.50:253,0,14
1 223934720 rs17600 G A 1982.65 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.8313;MQ=58.49;MQ0=0;QD=33.04;SNPEFF_AMINO_ACID_CHANGE=A116;SNPEFF_CODON_CHANGE=gcG/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_223934699_223934867;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAPN2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000433674 GT:AD:DP:GQ:PL 1/1:0,59:60:99:2016,153,0
1 223935090 rs1222132 G C 50.05 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.02;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAPN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000434648 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
1 223946945 rs114318533 C T 500.03 PASS AB=0.578;AC=1;AF=0.50;AN=2;BaseQRankSum=0.687;DB;DP=45;Dels=0.0;FS=4.199;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.569;QD=11.11;ReadPosRankSum=1.635;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAPN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000480581 GT:AD:DP:GQ:PL 0/1:26,19:45:99:530,0,823
1 223951841 rs751128 T C 495.84 PASS AB=0.638;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.404;DB;DP=59;Dels=0.0;FS=2.557;HRun=0;HaplotypeScore=3.7036;MQ=58.5;MQ0=0;MQRankSum=-0.146;QD=8.4;ReadPosRankSum=0.097;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAPN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295006 GT:AD:DP:GQ:PL 0/1:37,21:59:99:526,0,1149
1 224116379 rs141693109 T C 108.18 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=14.4;MQ0=6;QD=6.01;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PARP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000432338 GT:AD:DP:GQ:PL 1/1:6,11:18:15:141,15,0
1 224191284 rs3933009 A G 600.23 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=17.53;MQ0=30;QD=10.17;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PARP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000432338 GT:AD:DP:GQ:PL 1/1:0,59:59:60.09:633,60,0
1 224318151 rs3065998 T TTTG 1282.53 PASS AC=2;AF=1.00;AN=2;DB;DP=21;FS=0.0;HRun=0;HaplotypeScore=53.5962;IndelType=I;MQ=54.37;MQ0=0;QD=61.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FBXO28;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366862 GT:AD:DP:GQ:PL 1/1:0,19:21:63.21:1325,63,0
1 224321984 rs1472167 C T 1095.94 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.31;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FBXO28;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000519894 GT:AD:DP:GQ:PL 1/1:0,35:35:87.28:1129,87,0
1 224345012 rs7543762 G A 1754.33 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.9;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FBXO28;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366862 GT:AD:DP:GQ:PL 1/1:0,55:55:99:1787,132,0
1 224363370 rs6426178 A T 323.75 PASS AB=0.3;AC=1;AF=0.50;AN=2;BaseQRankSum=1.359;DB;DP=20;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=2.2064;MQ=45.71;MQ0=0;MQRankSum=-1.798;QD=16.19;ReadPosRankSum=-1.359;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PARP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000432338 GT:AD:DP:GQ:PL 0/1:6,14:20:99:354,0,180
1 224424442 rs1976788 A G 53.64 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.82;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NVL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281701 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:85,6,0
1 224444901 rs2897055 G C 1168.48 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NVL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281701 GT:AD:DP:GQ:PL 1/1:0,34:34:90.26:1201,90,0
1 224444982 rs2405063 A C 150.22 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.04;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NVL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281701 GT:AD:DP:GQ:PL 1/1:0,6:6:15.03:183,15,0
1 224482216 rs2404783 T C 258.89 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NVL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281701 GT:AD:DP:GQ:PL 1/1:0,8:8:24.07:292,24,0
1 224491264 rs4654018 T A 48.72 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.36;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NVL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000436927 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:80,6,0
1 224492381 rs7522125 C T 2791.65 PASS AC=2;AF=1.00;AN=2;DB;DP=94;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.9578;MQ=59.51;MQ0=0;QD=29.7;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NVL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000436927 GT:AD:DP:GQ:PL 1/1:0,94:94:99:2825,232,0
1 224492746 rs3754090 C T 3971.91 PASS AC=2;AF=1.00;AN=2;DB;DP=115;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9894;MQ=59.44;MQ0=0;QD=34.54;SNPEFF_AMINO_ACID_CHANGE=L140;SNPEFF_CODON_CHANGE=ctG/ctA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_224492736_224492868;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NVL;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000361463 GT:AD:DP:GQ:PL 1/1:0,115:115:99:3972,295,0
1 224493002 rs7532244 T C 90.80 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.27;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NVL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461466 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:123,9,0
1 224495852 rs7534447 C T 2957.95 PASS AC=2;AF=1.00;AN=2;DB;DP=85;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.8;SNPEFF_AMINO_ACID_CHANGE=R152;SNPEFF_CODON_CHANGE=cgG/cgA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_224495693_224495965;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NVL;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000281701 GT:AD:DP:GQ:PL 1/1:0,85:85:99:2991,226,0
1 224505570 rs3066969 T TAA 4270.41 PASS AC=2;AF=1.00;AN=2;DB;DP=82;FS=0.0;HRun=2;HaplotypeScore=201.74;IndelType=I;MQ=59.93;MQ0=1;QD=51.45;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NVL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281701 GT:AD:DP:GQ:PL 1/1:3,78:82:99:4270,235,0
1 224505719 rs4436353 T G 666.97 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.05;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NVL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281701 GT:AD:DP:GQ:PL 1/1:0,18:18:54.17:700,54,0
1 224514275 rs4653578 G A 293.29 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.66;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NVL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281701 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:326,24,0
1 224517842 rs2896990 C T 910.72 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.7887;MQ=58.41;MQ0=0;QD=20.7;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PARP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000432338 GT:AD:DP:GQ:PL 1/1:1,43:44:81.19:944,81,0
1 224517907 rs4146965 A T 558.17 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.21;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PARP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000432338 GT:AD:DP:GQ:PL 1/1:0,15:15:45.13:591,45,0
1 224544529 rs7517754 A G 78.18 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.06;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PARP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000432338 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:110,9,0
1 224619015 rs6660212 A T 90.49 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.16;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PARP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000432338 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:123,9,0
1 224621368 rs2405033 G C 1541.20 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.93;MQ0=0;QD=35.84;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PARP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000432338 GT:AD:DP:GQ:PL 1/1:0,43:43:99:1574,120,0
1 224926997 rs66925151 CTTTTTTTTTTTTTT C 413.80 PASS AB=0.727;AC=1;AF=0.50;AN=2;BaseQRankSum=2.06;DB;DP=24;FS=5.653;HRun=25;HaplotypeScore=301.1367;IndelType=D;MQ=32.23;MQ0=0;MQRankSum=-0.452;QD=17.24;ReadPosRankSum=1.256;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CNIH3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481095 GT:AD:DP:GQ:PL 0/1:15,6:24:99:453,0,1459
1 225142971 rs12748878 G C 104.51 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.731;QD=20.9;ReadPosRankSum=-0.731;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000413949 GT:AD:DP:GQ:PL 0/1:1,4:5:27.60:135,0,28
1 225230608 rs2501107 C T 3614.85 PASS AC=2;AF=1.00;AN=2;DB;DP=108;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.734;MQ=59.79;MQ0=0;QD=33.47;SNPEFF_AMINO_ACID_CHANGE=C520;SNPEFF_CODON_CHANGE=tgC/tgT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_225230537_225230816;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH14;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000430092 GT:AD:DP:GQ:PL 1/1:0,108:108:99:3615,271,0
1 225237850 rs2501086 A C 1691.21 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9894;MQ=60.0;MQ0=0;QD=39.33;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000430092 GT:AD:DP:GQ:PL 1/1:0,43:43:99:1724,126,0
1 225266966 rs3105559 C G 1208.16 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.52;SNPEFF_AMINO_ACID_CHANGE=L762V;SNPEFF_CODON_CHANGE=Ctg/Gtg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_225266909_225267250;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH14;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000445597 GT:AD:DP:GQ:PL 1/1:0,35:35:93.26:1241,93,0
1 225267999 . A G 136.77 PASS AB=0.688;AC=1;AF=0.50;AN=2;BaseQRankSum=2.511;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.6316;MQ=58.55;MQ0=0;MQRankSum=0.551;QD=8.55;ReadPosRankSum=-0.184;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000430092 GT:AD:DP:GQ:PL 0/1:11,5:16:99:167,0,285
1 225268343 rs3128651 A G 2891.56 PASS AC=2;AF=1.00;AN=2;DB;DP=83;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9979;MQ=59.72;MQ0=0;QD=34.84;SNPEFF_AMINO_ACID_CHANGE=K1010R;SNPEFF_CODON_CHANGE=aAg/aGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_225268081_225268450;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH14;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000430092 GT:AD:DP:GQ:PL 1/1:0,83:83:99:2925,226,0
1 225268346 rs3128652 G A 3090.28 PASS AC=2;AF=1.00;AN=2;DB;DP=85;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.73;MQ0=0;QD=36.36;SNPEFF_AMINO_ACID_CHANGE=R1011Q;SNPEFF_CODON_CHANGE=cGa/cAa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_225268081_225268450;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH14;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000430092 GT:AD:DP:GQ:PL 1/1:0,85:85:99:3123,232,0
1 225270409 rs3128655 A T 2091.66 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.64;MQ0=0;QD=32.68;SNPEFF_AMINO_ACID_CHANGE=N1099Y;SNPEFF_CODON_CHANGE=Aac/Tac;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_225270251_225270441;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH14;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000430092 GT:AD:DP:GQ:PL 1/1:0,64:64:99:2125,160,0
1 225273248 rs3128658 G T 1670.44 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=59.57;MQ0=0;QD=30.93;SNPEFF_AMINO_ACID_CHANGE=M1110I;SNPEFF_CODON_CHANGE=atG/atT;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_225273246_225273491;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH14;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000430092 GT:AD:DP:GQ:PL 1/1:0,54:54:99:1703,129,0
1 225273633 rs3105565 T A 412.80 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.4;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328556 GT:AD:DP:GQ:PL 1/1:0,12:12:33.11:446,33,0
1 225328430 rs12130576 T G 95.59 PASS AB=0.722;AC=1;AF=0.50;AN=2;BaseQRankSum=2.859;DB;DP=18;Dels=0.0;FS=10.055;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.099;QD=5.31;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328556 GT:AD:DP:GQ:PL 0/1:13,5:18:99:126,0,443
1 225492545 rs1995482 A G 123.19 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.637;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.466;QD=11.2;ReadPosRankSum=1.031;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000430092 GT:AD:DP:GQ:PL 0/1:6,5:11:99:153,0,215
1 225492845 rs12034925 C T 99.12 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=3.034;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9469;MQ=56.85;MQ0=0;MQRankSum=0.194;QD=6.61;ReadPosRankSum=1.097;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000430092 GT:AD:DP:GQ:PL 0/1:8,6:15:99:129,0,251
1 225506262 rs4653418 G A 545.49 PASS AB=0.485;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.711;DB;DP=33;Dels=0.0;FS=1.83;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.126;QD=16.53;ReadPosRankSum=0.81;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000430092 GT:AD:DP:GQ:PL 0/1:16,17:33:99:575,0,522
1 225510641 rs1532771 T C 199.48 PASS AB=0.611;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.272;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.96;MQ0=0;MQRankSum=0.453;QD=11.08;ReadPosRankSum=-1.268;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000430092 GT:AD:DP:GQ:PL 0/1:11,7:18:99:229,0,391
1 225512402 rs75859387 GT G 378.37 PASS AB=0.694;AC=1;AF=0.50;AN=2;BaseQRankSum=2.945;DB;DP=34;FS=10.813;HRun=5;HaplotypeScore=86.7854;IndelType=D;MQ=59.32;MQ0=0;MQRankSum=0.573;QD=11.13;ReadPosRankSum=2.471;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000430092 GT:AD:DP:GQ:PL 0/1:19,15:34:99:417,0,557
1 225526103 rs12408441 C T 79.18 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=15.84;ReadPosRankSum=0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000430092 GT:AD:DP:GQ:PL 0/1:2,3:5:67.83:109,0,68
1 225533684 rs6667999 A G 129.17 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.473;DB;DP=15;Dels=0.0;FS=19.59;HRun=0;HaplotypeScore=1.8305;MQ=60.0;MQ0=0;MQRankSum=-0.177;QD=8.61;ReadPosRankSum=-0.295;SNPEFF_AMINO_ACID_CHANGE=K2671E;SNPEFF_CODON_CHANGE=Aaa/Gaa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_225533664_225534082;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH14;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000445597 GT:AD:DP:GQ:PL 0/1:9,6:15:99:159,0,302
1 225577250 rs16844828 G T 49.41 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=16.47;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000430092 GT:AD:DP:GQ:PL 1/1:1,2:3:6.02:81,6,0
1 225577635 rs74877415 T C 683.81 PASS AB=0.606;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.218;DB;DP=71;Dels=0.0;FS=6.501;HRun=2;HaplotypeScore=0.0;MQ=59.68;MQ0=0;MQRankSum=-1.717;QD=9.63;ReadPosRankSum=0.189;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000430092 GT:AD:DP:GQ:PL 0/1:43,28:71:99:714,0,1329
1 225577648 rs12134158 C T 1026.56 PASS AB=0.448;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.852;DB;DP=58;Dels=0.0;FS=14.215;HRun=0;HaplotypeScore=0.8941;MQ=59.6;MQ0=0;MQRankSum=1.415;QD=17.7;ReadPosRankSum=1.634;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000430092 GT:AD:DP:GQ:PL 0/1:26,32:58:99:1057,0,759
1 225580093 rs61738690 G C 1568.34 PASS AB=0.55;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.625;DB;DP=131;Dels=0.0;FS=1.41;HRun=0;HaplotypeScore=0.5784;MQ=59.86;MQ0=0;MQRankSum=-0.096;QD=11.97;ReadPosRankSum=-0.152;SNPEFF_AMINO_ACID_CHANGE=K3367N;SNPEFF_CODON_CHANGE=aaG/aaC;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_225579993_225580153;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH14;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000445597 GT:AD:DP:GQ:PL 0/1:72,59:131:99:1598,0,2300
1 225597846 rs1011319 A G 281.03 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.23;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LBR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272163 GT:AD:DP:GQ:PL 1/1:0,9:9:27.08:314,27,0
1 225600169 rs112582692 C T 646.73 PASS AB=0.528;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.116;DB;DP=54;Dels=0.0;FS=7.954;HRun=0;HaplotypeScore=1.9996;MQ=59.14;MQ0=0;MQRankSum=-0.205;QD=11.98;ReadPosRankSum=0.134;SNPEFF_AMINO_ACID_CHANGE=S357;SNPEFF_CODON_CHANGE=tcG/tcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_225600156_225600347;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LBR;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000272163 GT:AD:DP:GQ:PL 0/1:28,25:54:99:677,0,841
1 225600383 rs16844850 A G 113.72 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.247;DB;DP=18;Dels=0.0;FS=4.26;HRun=0;HaplotypeScore=0.9665;MQ=56.04;MQ0=0;MQRankSum=-1.03;QD=6.32;ReadPosRankSum=-2.007;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LBR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000487054 GT:AD:DP:GQ:PL 0/1:12,6:18:99:144,0,325
1 225601647 rs3766928 C T 1176.95 PASS AB=0.568;AC=1;AF=0.50;AN=2;BaseQRankSum=0.021;DB;DP=88;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.79;MQ0=0;MQRankSum=0.004;QD=13.37;ReadPosRankSum=1.065;SNPEFF_AMINO_ACID_CHANGE=D24;SNPEFF_CODON_CHANGE=gaC/gaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_225600404_225602040;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC092811.1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366845 GT:AD:DP:GQ:PL 0/1:50,38:88:99:1207,0,1578
1 225603103 rs6702433 C T 254.35 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.2;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC092811.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366845 GT:AD:DP:GQ:PL 1/1:0,12:12:21.07:287,21,0
1 225603166 rs12089582 T G 43.44 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=14.48;ReadPosRankSum=-0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC092811.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366845 GT:AD:DP:GQ:PL 0/1:1,2:3:33.62:73,0,34
1 225605615 rs12085130 T C 114.67 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.919;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.061;QD=7.64;ReadPosRankSum=-0.184;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC092811.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366845 GT:AD:DP:GQ:PL 0/1:10,5:15:99:145,0,366
1 225607144 rs2230419 C T 1320.80 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.7;SNPEFF_AMINO_ACID_CHANGE=S154N;SNPEFF_CODON_CHANGE=aGt/aAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_225606965_225607154;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LBR;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000272163 GT:AD:DP:GQ:PL 1/1:0,37:37:99:1354,99,0
1 225607578 rs79557502 T C 615.73 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.516;DB;DP=48;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9997;MQ=60.0;MQ0=0;MQRankSum=1.119;QD=12.83;ReadPosRankSum=0.742;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LBR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421383 GT:AD:DP:GQ:PL 0/1:28,20:48:99:646,0,1035
1 225609884 rs1056608 A G 685.99 PASS AB=0.517;AC=1;AF=0.50;AN=2;BaseQRankSum=0.392;DB;DP=61;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.9665;MQ=58.08;MQ0=0;MQRankSum=-1.478;QD=11.25;ReadPosRankSum=-0.743;SNPEFF_AMINO_ACID_CHANGE=P87;SNPEFF_CODON_CHANGE=ccT/ccC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_225609779_225609979;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LBR;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000272163 GT:AD:DP:GQ:PL 0/1:31,29:61:99:716,0,1008
1 225611661 rs1056607 C T 8467.71 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.62;DB;DP=250;DS;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=4.1225;MQ=59.91;MQ0=0;MQRankSum=0.489;QD=33.87;ReadPosRankSum=-1.117;SNPEFF_AMINO_ACID_CHANGE=V39;SNPEFF_CODON_CHANGE=gtG/gtA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_225611613_225611791;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LBR;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000272163 GT:AD:DP:GQ:PL 1/1:1,249:250:99:8468,604,0
1 225611845 rs1340867 C T 2059.56 PASS AB=0.43;AC=1;AF=0.50;AN=2;BaseQRankSum=7.806;DB;DP=107;DS;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9967;MQ=60.0;MQ0=0;MQRankSum=-1.507;QD=19.25;ReadPosRankSum=-1.211;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LBR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272163 GT:AD:DP:GQ:PL 0/1:46,61:107:99:2090,0,1250
1 225685473 rs17501138 T C 499.05 PASS AB=0.55;AC=1;AF=0.50;AN=2;BaseQRankSum=1.507;DB;DP=40;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.84;MQ0=0;MQRankSum=-0.042;QD=12.48;ReadPosRankSum=-1.93;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PARP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000432338 GT:AD:DP:GQ:PL 0/1:22,18:40:99:529,0,643
1 225688574 rs147494157 A AT 320.70 PASS AB=0.652;AC=1;AF=0.50;AN=2;BaseQRankSum=3.123;DB;DP=15;FS=0.0;HRun=1;HaplotypeScore=65.1794;IndelType=I;MQ=58.45;MQ0=0;MQRankSum=-0.412;QD=21.38;ReadPosRankSum=-0.53;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ENAH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284563 GT:AD:DP:GQ:PL 0/1:7,8:15:99:360,0,189
1 225688591 rs77819119 G A 376.92 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=3.325;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.71;MQ0=0;MQRankSum=-0.047;QD=20.94;ReadPosRankSum=-0.328;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ENAH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284563 GT:AD:DP:GQ:PL 0/1:6,12:18:99:407,0,169
1 225699680 rs75186578 C T 191.25 PASS AB=0.3;AC=1;AF=0.50;AN=2;BaseQRankSum=1.818;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.386;QD=19.13;ReadPosRankSum=-0.895;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ENAH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284563 GT:AD:DP:GQ:PL 0/1:3,7:10:85.48:221,0,85
1 225699734 rs74392857 T C 42.05 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=14.02;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ENAH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284563 GT:AD:DP:GQ:PL 0/1:1,2:3:31.62:72,0,32
1 225700197 rs79382583 A G 38.62 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.026;QD=9.65;ReadPosRankSum=1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ENAH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284563 GT:AD:DP:GQ:PL 0/1:2,2:4:68.61:69,0,72
1 225702144 rs78897252 C T 43.38 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=14.46;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ENAH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000391874 GT:AD:DP:GQ:PL 0/1:1,2:3:31.62:73,0,32
1 225706943 rs1340868 C T 1975.53 PASS AB=0.551;AC=1;AF=0.50;AN=2;BaseQRankSum=0.001;DB;DP=185;Dels=0.0;FS=5.363;HRun=0;HaplotypeScore=4.2814;MQ=54.94;MQ0=0;MQRankSum=-0.674;QD=10.68;ReadPosRankSum=-0.623;SNPEFF_AMINO_ACID_CHANGE=R252;SNPEFF_CODON_CHANGE=agG/agA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_225706900_225707267;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ENAH;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000538194 GT:AD:DP:GQ:PL 0/1:102,83:185:99:2006,0,2965
1 225707271 rs34432111 G GA 190.77 PASS AB=0.815;AC=1;AF=0.50;AN=2;BaseQRankSum=1.048;DB;DP=53;FS=1.463;HRun=16;HaplotypeScore=453.5245;IndelType=I;MQ=52.11;MQ0=0;MQRankSum=-0.076;QD=3.6;ReadPosRankSum=-1.322;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ENAH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284563 GT:AD:DP:GQ:PL 0/1:34,7:53:99:230,0,134
1 225742588 rs17561228 A G 521.78 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.085;DB;DP=39;Dels=0.0;FS=6.069;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.69;QD=13.38;ReadPosRankSum=-0.268;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ENAH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284563 GT:AD:DP:GQ:PL 0/1:18,21:39:99:552,0,621
1 225755148 rs1876085 G A 442.21 PASS AB=0.515;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.26;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=59.3;MQ0=0;MQRankSum=-0.522;QD=13.4;ReadPosRankSum=-0.666;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ENAH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284563 GT:AD:DP:GQ:PL 0/1:17,16:33:99:472,0,496
1 225755208 rs1876086 G A 70.66 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.754;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.55;QD=10.09;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ENAH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284563 GT:AD:DP:GQ:PL 0/1:4,3:7:99:101,0,148
1 226019346 rs146555972 G A 97.10 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.421;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.05;MQ0=0;MQRankSum=0.421;QD=12.14;ReadPosRankSum=-0.421;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPHX1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272167 GT:AD:DP:GQ:PL 0/1:4,4:8:99:127,0,129
1 226019371 rs3817268 G T 93.39 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.036;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.66;MQ0=0;MQRankSum=0.0;QD=9.34;ReadPosRankSum=0.365;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPHX1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272167 GT:AD:DP:GQ:PL 0/1:6,4:10:99:123,0,208
1 226019633 rs1051740 T C 730.64 PASS AB=0.49;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.07;DB;DP=49;Dels=0.0;FS=1.191;HRun=0;HaplotypeScore=0.0;MQ=59.53;MQ0=0;MQRankSum=0.47;QD=14.91;ReadPosRankSum=0.17;SNPEFF_AMINO_ACID_CHANGE=Y113H;SNPEFF_CODON_CHANGE=Tac/Cac;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_226019480_226019660;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPHX1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000272167 GT:AD:DP:GQ:PL 0/1:24,25:49:99:761,0,708
1 226019653 rs2292566 G A 610.97 PASS AB=0.543;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.654;DB;DP=46;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.5;MQ0=0;MQRankSum=-1.742;QD=13.28;ReadPosRankSum=-0.022;SNPEFF_AMINO_ACID_CHANGE=K119;SNPEFF_CODON_CHANGE=aaG/aaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_226019480_226019660;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPHX1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000272167 GT:AD:DP:GQ:PL 0/1:25,21:46:99:641,0,731
1 226019774 rs2260863 G C 236.08 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.73;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPHX1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272167 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:269,21,0
1 226026241 rs4149223 C G 101.47 PASS AB=0.684;AC=1;AF=0.50;AN=2;BaseQRankSum=0.044;DB;DP=19;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=1.359;QD=5.34;ReadPosRankSum=-0.132;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPHX1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272167 GT:AD:DP:GQ:PL 0/1:13,6:19:99:131,0,481
1 226026406 rs2234922 A G 1211.93 PASS AB=0.463;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.721;DB;DP=82;Dels=0.0;FS=2.943;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=-0.506;QD=14.78;ReadPosRankSum=1.008;SNPEFF_AMINO_ACID_CHANGE=H139R;SNPEFF_CODON_CHANGE=cAt/cGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_226026355_226026582;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPHX1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000272167 GT:AD:DP:GQ:PL 0/1:38,44:82:99:1242,0,1134
1 226032229 rs1051741 C T 715.03 PASS AB=0.419;AC=1;AF=0.50;AN=2;BaseQRankSum=1.136;DB;DP=43;Dels=0.0;FS=1.263;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.189;QD=16.63;ReadPosRankSum=-0.842;SNPEFF_AMINO_ACID_CHANGE=N357;SNPEFF_CODON_CHANGE=aaC/aaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_226032199_226032324;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPHX1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000272167 GT:AD:DP:GQ:PL 0/1:18,25:43:99:745,0,479
1 226036309 rs360063 A G 601.08 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.36;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPHX1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272167 GT:AD:DP:GQ:PL 1/1:0,17:17:48.16:634,48,0
1 226044489 rs78505240 G GC 368.63 PASS AC=2;AF=1.00;AN=2;DB;DP=12;FS=0.0;HRun=4;HaplotypeScore=23.647;IndelType=I;MQ=59.35;MQ0=0;QD=30.72;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM63A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474478 GT:AD:DP:GQ:PL 1/1:2,10:12:30.10:411,30,0
1 226044766 rs9919303 G A 369.96 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.33;MQ0=0;QD=26.43;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM63A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474478 GT:AD:DP:GQ:PL 1/1:0,14:14:30.10:403,30,0
1 226049648 rs360080 A G 76.18 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=51.77;MQ0=0;QD=25.39;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM63A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000483779 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:108,9,0
1 226054333 rs45492299 G A 405.68 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=0.476;DB;DP=39;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.52;MQ0=0;MQRankSum=0.072;QD=10.4;ReadPosRankSum=-1.083;SNPEFF_AMINO_ACID_CHANGE=L206F;SNPEFF_CODON_CHANGE=Ctc/Ttc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_226054274_226054382;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM63A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366835 GT:AD:DP:GQ:PL 0/1:24,15:39:99:436,0,675
1 226054656 rs360084 G A 780.55 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.48;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM63A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000436966 GT:AD:DP:GQ:PL 1/1:0,22:22:63.16:814,63,0
1 226054681 rs360085 T A 1008.87 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.37;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM63A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000436966 GT:AD:DP:GQ:PL 1/1:0,27:27:78.23:1042,78,0
1 226054714 rs2292563 G A 1573.08 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.58;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM63A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000436966 GT:AD:DP:GQ:PL 1/1:0,43:43:99:1606,117,0
1 226055595 rs2292564 G A 1166.01 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.68;SNPEFF_AMINO_ACID_CHANGE=D169;SNPEFF_CODON_CHANGE=gaC/gaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_226055588_226055730;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM63A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366835 GT:AD:DP:GQ:PL 1/1:0,37:38:90.26:1199,90,0
1 226125617 rs3007716 A G 44.50 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=14.83;ReadPosRankSum=-0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LEFTY2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474493 GT:AD:DP:GQ:PL 0/1:1,2:3:31.62:74,0,32
1 226127443 rs74578461 G C 121 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=0.318;DB;DP=16;Dels=0.0;FS=3.256;HRun=3;HaplotypeScore=0.0;MQ=53.88;MQ0=0;MQRankSum=1.27;QD=7.56;ReadPosRankSum=0.847;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LEFTY2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366820 GT:AD:DP:GQ:PL 0/1:9,7:16:99:151,0,268
1 226179909 rs1885254 A G 44.66 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.33;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf55;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272091 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:76,6,0
1 226180026 rs72757014 C T 235.89 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.298;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.473;QD=15.73;ReadPosRankSum=-0.884;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf55;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272091 GT:AD:DP:GQ:PL 0/1:6,9:15:99:266,0,209
1 226182800 rs4653702 A G 284.03 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.56;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf55;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272091 GT:AD:DP:GQ:PL 1/1:0,9:9:24.08:317,24,0
1 226252232 rs2036870 C T 408.15 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.43;MQ0=0;QD=34.01;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=H3F3A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366813 GT:AD:DP:GQ:PL 1/1:0,12:12:33.11:441,33,0
1 226253127 rs1511056 T G 49.09 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=H3F3A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366813 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:80,6,0
1 226253316 rs1849032 G T 1435.51 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9958;MQ=53.12;MQ0=0;QD=33.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=H3F3A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366813 GT:AD:DP:GQ:PL 1/1:0,43:43:99:1469,111,0
1 226334578 rs1219666 G A 1500.56 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.73;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACBD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366812 GT:AD:DP:GQ:PL 1/1:0,42:42:99:1534,117,0
1 226339764 rs10915949 C A 47.97 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.98;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACBD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464927 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
1 226346856 rs113921278 A G 734.78 PASS AB=0.565;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.18;DB;DP=62;Dels=0.0;FS=2.77;HRun=2;HaplotypeScore=0.0;MQ=59.25;MQ0=0;MQRankSum=0.124;QD=11.85;ReadPosRankSum=0.809;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACBD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366812 GT:AD:DP:GQ:PL 0/1:35,27:62:99:765,0,1177
1 226352498 rs2306120 T G 1062.95 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.0756;MQ=60.0;MQ0=0;QD=27.97;SNPEFF_AMINO_ACID_CHANGE=E187D;SNPEFF_CODON_CHANGE=gaA/gaC;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_226352490_226352630;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACBD3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366812 GT:AD:DP:GQ:PL 1/1:0,38:38:87.27:1096,87,0
1 226353521 rs2306121 T A 340.76 PASS AB=0.622;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.707;DB;DP=37;Dels=0.0;FS=2.643;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.517;QD=9.21;ReadPosRankSum=0.172;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACBD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366812 GT:AD:DP:GQ:PL 0/1:23,14:37:99:371,0,806
1 226411317 rs10915962 C T 39.83 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=19.92;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PARP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000432338 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:71,6,0
1 226420722 rs2306119 A G 261.14 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.022;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.416;QD=10.45;ReadPosRankSum=-0.083;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LIN9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328205 GT:AD:DP:GQ:PL 0/1:15,10:25:99:291,0,547
1 226438449 rs6678137 T C 417.51 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.79;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LIN9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366807 GT:AD:DP:GQ:PL 1/1:0,12:12:36.11:451,36,0
1 226474132 rs10799347 G A 2810.99 PASS AC=2;AF=1.00;AN=2;DB;DP=85;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;QD=33.07;SNPEFF_AMINO_ACID_CHANGE=F107;SNPEFF_CODON_CHANGE=ttC/ttT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_226474034_226474159;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LIN9;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366801 GT:AD:DP:GQ:PL 1/1:0,85:85:99:2844,214,0
1 226485327 rs11390947 A AT 591.29 PASS AC=2;AF=1.00;AN=2;DB;DP=19;FS=0.0;HRun=6;HaplotypeScore=39.4094;IndelType=I;MQ=61.13;MQ0=0;QD=31.12;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LIN9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328205 GT:AD:DP:GQ:PL 1/1:1,18:19:51.16:633,51,0
1 226488826 rs11577454 A G 488.81 PASS AB=0.587;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.895;DB;DP=46;Dels=0.0;FS=1.33;HRun=0;HaplotypeScore=0.0;MQ=58.99;MQ0=0;MQRankSum=-1.0;QD=10.63;ReadPosRankSum=0.885;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LIN9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328205 GT:AD:DP:GQ:PL 0/1:27,19:46:99:519,0,725
1 226549498 rs2271347 G A 68.44 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.406;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.406;QD=11.41;ReadPosRankSum=0.406;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PARP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000498787 GT:AD:DP:GQ:PL 0/1:3,3:6:96.32:98,0,96
1 226550924 rs747657 G C 1077.29 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=59.2;MQ0=0;QD=37.15;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PARP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000498787 GT:AD:DP:GQ:PL 1/1:0,29:29:81.26:1110,81,0
1 226551460 rs752309 T C 150.10 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.02;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PARP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000498787 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:183,15,0
1 226551529 rs752307 C G 623.06 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.79;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PARP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000498787 GT:AD:DP:GQ:PL 1/1:0,19:19:51.13:656,51,0
1 226556094 rs1805400 T C 478.84 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.5;MQ0=0;QD=28.17;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PARP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366794 GT:AD:DP:GQ:PL 1/1:0,17:17:39.13:512,39,0
1 226557878 rs3219110 T C 41.49 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.026;QD=10.37;ReadPosRankSum=1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PARP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366794 GT:AD:DP:GQ:PL 0/1:2,2:4:57.87:71,0,58
1 226561761 rs2377312 G C 89.16 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PARP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366794 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:121,9,0
1 226564691 rs3219090 T C 605.35 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.63;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PARP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366794 GT:AD:DP:GQ:PL 1/1:0,18:18:48.16:638,48,0
1 226566726 rs907190 A C 1660.53 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.9;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PARP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366794 GT:AD:DP:GQ:PL 1/1:0,45:45:99:1694,123,0
1 226570840 rs1805415 T C 4119.26 PASS AC=2;AF=1.00;AN=2;DB;DP=134;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.48;MQ0=0;QD=30.74;SNPEFF_AMINO_ACID_CHANGE=K352;SNPEFF_CODON_CHANGE=aaA/aaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_226570737_226570884;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PARP1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366794 GT:AD:DP:GQ:PL 1/1:0,134:134:99:4119,328,0
1 226578099 rs1805403 T C 693.72 PASS AB=0.552;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.152;DB;DP=58;Dels=0.0;FS=2.363;HRun=0;HaplotypeScore=1.5317;MQ=59.6;MQ0=0;MQRankSum=-0.104;QD=11.96;ReadPosRankSum=1.802;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PARP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366791 GT:AD:DP:GQ:PL 0/1:32,26:58:99:724,0,843
1 226836190 rs4653762 C A 211.95 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.33;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITPKB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272117 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:245,18,0
1 226836590 rs2298169 A G 330.10 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.68;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITPKB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272117 GT:AD:DP:GQ:PL 1/1:0,9:9:27.08:363,27,0
1 226923146 rs11337528 GT G 293.50 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=3.307;DB;DP=20;FS=0.0;HRun=2;HaplotypeScore=47.153;IndelType=D;MQ=59.39;MQ0=0;MQRankSum=0.204;QD=14.67;ReadPosRankSum=0.857;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITPKB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272117 GT:AD:DP:GQ:PL 0/1:10,10:20:99:333,0,348
1 226923264 rs708775 G A 705.63 PASS AB=0.578;AC=1;AF=0.50;AN=2;BaseQRankSum=1.361;DB;DP=64;Dels=0.0;FS=0.973;HRun=2;HaplotypeScore=2.5873;MQ=59.35;MQ0=0;MQRankSum=-0.649;QD=11.03;ReadPosRankSum=-0.272;SNPEFF_AMINO_ACID_CHANGE=A632;SNPEFF_CODON_CHANGE=gcC/gcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_226923228_226925159;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITPKB;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000272117 GT:AD:DP:GQ:PL 0/1:37,27:64:99:736,0,1112
1 226923505 rs708776 G T 618.57 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;QD=30.93;SNPEFF_AMINO_ACID_CHANGE=P552Q;SNPEFF_CODON_CHANGE=cCg/cAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_226923228_226925159;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITPKB;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000272117 GT:AD:DP:GQ:PL 1/1:0,20:20:48.15:652,48,0
1 226923938 rs6667260 A C 333.86 PASS AB=0.588;AC=1;AF=0.50;AN=2;BaseQRankSum=1.197;DB;DP=34;Dels=0.0;FS=1.434;HRun=0;HaplotypeScore=0.0;MQ=58.76;MQ0=0;MQRankSum=0.313;QD=9.82;ReadPosRankSum=0.608;SNPEFF_AMINO_ACID_CHANGE=S408A;SNPEFF_CODON_CHANGE=Tcc/Gcc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_226923228_226925159;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITPKB;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000272117 GT:AD:DP:GQ:PL 0/1:20,14:34:99:364,0,615
1 227068242 . GGACA G 631.89 PASS AB=0.76;AC=1;AF=0.50;AN=2;BaseQRankSum=2.342;DP=38;FS=0.0;HRun=0;HaplotypeScore=232.862;IndelType=D;MQ=58.51;MQ0=0;MQRankSum=-0.064;QD=16.63;ReadPosRankSum=-2.631;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSEN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000521431 GT:AD:DP:GQ:PL 0/1:26,12:38:99:671,0,1545
1 227069677 rs11405 T C 1495.51 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.5784;MQ=59.25;MQ0=0;QD=26.71;SNPEFF_AMINO_ACID_CHANGE=A23;SNPEFF_CODON_CHANGE=gcT/gcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_227069589_227069749;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSEN2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000340188 GT:AD:DP:GQ:PL 1/1:0,56:56:99:1529,126,0
1 227069737 rs6759 C T 341.89 PASS AB=0.519;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.364;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.31;MQ0=0;MQRankSum=-1.189;QD=12.66;ReadPosRankSum=0.461;SNPEFF_AMINO_ACID_CHANGE=N43;SNPEFF_CODON_CHANGE=aaC/aaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_227069589_227069749;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSEN2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000340188 GT:AD:DP:GQ:PL 0/1:14,13:27:99:372,0,480
1 227071364 rs1295643 G A 69.58 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=1.92;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.322;QD=8.7;ReadPosRankSum=0.322;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSEN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000524196 GT:AD:DP:GQ:PL 0/1:5,3:8:99:100,0,142
1 227071377 rs1295644 T C 378.36 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.4;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSEN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000524196 GT:AD:DP:GQ:PL 1/1:0,11:11:30.10:411,30,0
1 227071525 rs1046240 C T 825.94 PASS AB=0.529;AC=1;AF=0.50;AN=2;BaseQRankSum=3.53;DB;DP=70;Dels=0.0;FS=4.715;HRun=0;HaplotypeScore=1.7262;MQ=57.66;MQ0=0;MQRankSum=2.13;QD=11.8;ReadPosRankSum=0.047;SNPEFF_AMINO_ACID_CHANGE=H120;SNPEFF_CODON_CHANGE=caC/caT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_227071406_227071620;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSEN2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366782 GT:AD:DP:GQ:PL 0/1:37,33:70:99:856,0,977
1 227073410 rs2236910 G C 219.78 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.47;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSEN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000495488 GT:AD:DP:GQ:PL 1/1:0,8:8:18.06:253,18,0
1 227075920 rs149734051 A G 308.29 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=0.133;DB;DP=18;Dels=0.0;FS=3.522;HRun=0;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=1.2;QD=17.13;ReadPosRankSum=-1.821;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSEN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000495488 GT:AD:DP:GQ:PL 0/1:8,10:18:99:338,0,255
1 227078875 rs114076393 G A 113.63 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=1.38;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=16.23;ReadPosRankSum=-0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSEN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340188 GT:AD:DP:GQ:PL 0/1:2,5:7:56.51:144,0,57
1 227078955 rs2802267 T C 354.32 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.53;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSEN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340188 GT:AD:DP:GQ:PL 1/1:0,12:12:30.07:387,30,0
1 227081622 rs10753428 A G 403.49 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.33;MQ0=0;QD=28.82;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSEN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460775 GT:AD:DP:GQ:PL 1/1:0,14:14:36.11:436,36,0
1 227081850 rs2855562 G A 234.42 PASS AB=0.524;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.347;DB;DP=21;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.939;QD=11.16;ReadPosRankSum=-0.776;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSEN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460775 GT:AD:DP:GQ:PL 0/1:11,10:21:99:264,0,281
1 227085155 rs11802358 G A 718.33 PASS AB=0.591;AC=1;AF=0.50;AN=2;BaseQRankSum=1.258;DB;DP=66;Dels=0.0;FS=4.891;HRun=2;HaplotypeScore=0.9665;MQ=59.3;MQ0=0;MQRankSum=0.233;QD=10.88;ReadPosRankSum=-0.832;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSEN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340188 GT:AD:DP:GQ:PL 0/1:39,27:66:99:748,0,1174
1 227085462 rs1800672 T C 2003.24 PASS AB=0.513;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.653;DB;DP=150;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=4.7297;MQ=59.35;MQ0=0;MQRankSum=-0.973;QD=13.35;ReadPosRankSum=0.489;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSEN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340188 GT:AD:DP:GQ:PL 0/1:77,73:150:99:2033,0,2206
1 227085646 rs1800673 C T 441.73 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=0.512;DB;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.375;QD=20.08;ReadPosRankSum=-0.102;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSEN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340188 GT:AD:DP:GQ:PL 0/1:8,14:22:99:472,0,261
1 227149203 rs11549708 G A 217.53 PASS AB=0.68;AC=1;AF=0.50;AN=2;BaseQRankSum=0.871;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=-0.226;QD=8.7;ReadPosRankSum=-0.549;SNPEFF_AMINO_ACID_CHANGE=A2;SNPEFF_CODON_CHANGE=gcG/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_227149127_227149263;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADCK3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000405743 GT:AD:DP:GQ:PL 0/1:17,8:25:99:248,0,480
1 227170298 rs2297412 A G 118.92 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.005;DB;DP=15;Dels=0.0;FS=4.472;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.295;QD=7.93;ReadPosRankSum=-1.945;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADCK3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366775 GT:AD:DP:GQ:PL 0/1:9,6:15:99:149,0,313
1 227170768 rs2256060 T C 112.51 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.5;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADCK3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366775 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:145,12,0
1 227171958 rs7530213 G C 296.65 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.97;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADCK3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366775 GT:AD:DP:GQ:PL 1/1:0,11:11:24.08:330,24,0
1 227172290 rs12593 C T 1090.43 PASS AB=0.449;AC=1;AF=0.50;AN=2;BaseQRankSum=0.649;DB;DP=69;Dels=0.0;FS=3.396;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.775;QD=15.8;ReadPosRankSum=-1.406;SNPEFF_AMINO_ACID_CHANGE=F154;SNPEFF_CODON_CHANGE=ttC/ttT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_227172249_227172356;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADCK3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000433743 GT:AD:DP:GQ:PL 0/1:31,38:69:99:1120,0,902
1 227172518 rs1317490 C T 270.24 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.795;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.088;QD=15.01;ReadPosRankSum=-2.296;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADCK3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366775 GT:AD:DP:GQ:PL 0/1:9,9:18:99:300,0,270
1 227172903 rs2297415 G A 594.79 PASS AB=0.579;AC=1;AF=0.50;AN=2;BaseQRankSum=3.916;DB;DP=57;Dels=0.0;FS=1.301;HRun=0;HaplotypeScore=0.0;MQ=59.19;MQ0=0;MQRankSum=0.06;QD=10.43;ReadPosRankSum=-0.435;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC42BPA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334218 GT:AD:DP:GQ:PL 0/1:33,24:57:99:625,0,882
1 227172935 rs2297416 C G 682.23 PASS AB=0.582;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.515;DB;DP=79;Dels=0.0;FS=0.951;HRun=0;HaplotypeScore=4.5466;MQ=59.42;MQ0=0;MQRankSum=-1.173;QD=8.64;ReadPosRankSum=-0.67;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC42BPA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334218 GT:AD:DP:GQ:PL 0/1:46,33:79:99:712,0,1356
1 227173892 rs17592479 T A 35.68 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.84;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC42BPA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334218 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:67,6,0
1 227174122 rs41303131 C G 810.03 PASS AB=0.348;AC=1;AF=0.50;AN=2;BaseQRankSum=1.79;DB;DP=47;Dels=0.0;FS=11.76;HRun=1;HaplotypeScore=7.4993;MQ=59.51;MQ0=0;MQRankSum=0.605;QD=17.23;ReadPosRankSum=-0.818;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC42BPA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334218 GT:AD:DP:GQ:PL 0/1:16,30:47:99:840,0,392
1 227174145 rs7552783 T C 924.51 PASS AB=0.469;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.182;DB;DP=64;Dels=0.0;FS=12.113;HRun=1;HaplotypeScore=2.2282;MQ=59.28;MQ0=0;MQRankSum=0.114;QD=14.45;ReadPosRankSum=1.836;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC42BPA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334218 GT:AD:DP:GQ:PL 0/1:30,34:64:99:955,0,941
1 227174210 rs3738725 T C 759.19 PASS AB=0.553;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.478;DB;DP=76;Dels=0.0;FS=0.924;HRun=1;HaplotypeScore=0.5784;MQ=59.39;MQ0=0;MQRankSum=-0.336;QD=9.99;ReadPosRankSum=-1.745;SNPEFF_AMINO_ACID_CHANGE=S246;SNPEFF_CODON_CHANGE=tcT/tcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_227174154_227174469;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADCK3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000433743 GT:AD:DP:GQ:PL 0/1:42,34:76:99:789,0,1302
1 227182033 rs2802269 G A 201.33 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=57.05;MQ0=0;QD=25.17;SNPEFF_AMINO_ACID_CHANGE=A1618V;SNPEFF_CODON_CHANGE=gCt/gTt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_227177566_227182100;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC42BPA;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366767 GT:AD:DP:GQ:PL 1/1:0,8:8:18.05:234,18,0
1 227182575 rs1045247 A G 2709.58 PASS AC=2;AF=1.00;AN=2;DB;DP=85;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.73;MQ0=0;QD=31.88;SNPEFF_AMINO_ACID_CHANGE=S1578;SNPEFF_CODON_CHANGE=tcT/tcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_227182524_227182681;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC42BPA;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366767 GT:AD:DP:GQ:PL 1/1:0,85:85:99:2743,214,0
1 227192579 rs2297418 A C 507.87 PASS AB=0.566;AC=1;AF=0.50;AN=2;BaseQRankSum=1.598;DB;DP=53;Dels=0.0;FS=5.579;HRun=2;HaplotypeScore=1.8245;MQ=59.21;MQ0=0;MQRankSum=-0.354;QD=9.58;ReadPosRankSum=-0.545;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC42BPA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334218 GT:AD:DP:GQ:PL 0/1:30,23:53:99:538,0,917
1 227198434 rs139117933 AGAG A 268.79 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=3.204;DB;DP=14;FS=0.0;HRun=0;HaplotypeScore=54.321;IndelType=D;MQ=57.43;MQ0=0;MQRankSum=0.201;QD=19.2;ReadPosRankSum=-0.545;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC42BPA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334218 GT:AD:DP:GQ:PL 0/1:7,7:14:99:308,0,434
1 227198775 rs12403978 C G 671.36 PASS AB=0.569;AC=1;AF=0.50;AN=2;BaseQRankSum=0.808;DB;DP=51;Dels=0.0;FS=8.054;HRun=0;HaplotypeScore=0.0;MQ=59.18;MQ0=0;MQRankSum=-1.493;QD=13.16;ReadPosRankSum=-1.683;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC42BPA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334218 GT:AD:DP:GQ:PL 0/1:29,22:51:99:701,0,917
1 227198868 rs12404219 C G 291.43 PASS AB=0.524;AC=1;AF=0.50;AN=2;BaseQRankSum=2.279;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.11;MQ0=0;MQRankSum=-1.747;QD=13.88;ReadPosRankSum=1.292;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC42BPA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334218 GT:AD:DP:GQ:PL 0/1:11,10:21:99:321,0,392
1 227210888 rs11578479 A T 45.87 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.93;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC42BPA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334218 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:77,6,0
1 227213968 rs7535826 G T 40.99 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=13.66;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC42BPA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334218 GT:AD:DP:GQ:PL 0/1:1,2:3:33.20:71,0,33
1 227216662 rs1929861 T C 809.43 PASS AB=0.515;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.752;DB;DP=66;Dels=0.0;FS=3.385;HRun=1;HaplotypeScore=0.0;MQ=59.37;MQ0=0;MQRankSum=-1.332;QD=12.26;ReadPosRankSum=-0.413;SNPEFF_AMINO_ACID_CHANGE=K1260;SNPEFF_CODON_CHANGE=aaA/aaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_227216358_227216951;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC42BPA;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366767 GT:AD:DP:GQ:PL 0/1:34,32:66:99:839,0,1067
1 227218069 rs5781458 C CAT 1239.20 PASS AC=2;AF=1.00;AN=2;DB;DP=23;FS=0.0;HRun=0;HaplotypeScore=74.7474;IndelType=I;MQ=53.6;MQ0=0;QD=53.88;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC42BPA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334218 GT:AD:DP:GQ:PL 1/1:0,23:23:63.22:1281,63,0
1 227218085 rs72332317 CA C 191.16 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=0.46;DB;DP=35;FS=0.0;HRun=11;HaplotypeScore=203.2524;IndelType=D;MQ=54.11;MQ0=0;MQRankSum=-2.218;QD=5.46;ReadPosRankSum=-0.293;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC42BPA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334218 GT:AD:DP:GQ:PL 0/1:21,14:35:99:230,0,454
1 227219314 rs1319103 A G 222.87 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=2.793;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.309;QD=18.57;ReadPosRankSum=1.788;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC42BPA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334218 GT:AD:DP:GQ:PL 0/1:5,7:12:99:253,0,167
1 227222194 rs41303115 T G 65.23 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.727;QD=16.31;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC42BPA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334218 GT:AD:DP:GQ:PL 0/1:1,3:4:30.19:95,0,30
1 227222515 rs113874316 G GACAA 3434.97 PASS AC=2;AF=1.00;AN=2;DB;DP=53;FS=0.0;HRun=0;HaplotypeScore=158.3978;IndelType=I;MQ=56.2;MQ0=0;QD=64.81;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC42BPA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334218 GT:AD:DP:GQ:PL 1/1:8,45:53:99:3435,135,0
1 227239739 rs55865118 T A 788.90 PASS AB=0.509;AC=1;AF=0.50;AN=2;BaseQRankSum=2.18;DB;DP=55;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9997;MQ=59.66;MQ0=0;MQRankSum=-0.598;QD=14.34;ReadPosRankSum=-1.473;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC42BPA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334218 GT:AD:DP:GQ:PL 0/1:28,27:55:99:819,0,963
1 227239746 rs10799381 G T 1823.92 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.45;DB;DP=49;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9997;MQ=59.62;MQ0=0;MQRankSum=1.662;QD=37.22;ReadPosRankSum=-1.237;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC42BPA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334218 GT:AD:DP:GQ:PL 1/1:1,48:49:99:1857,101,0
1 227247016 rs10495266 G C 135.75 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.212;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.545;QD=9.05;ReadPosRankSum=-0.437;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC42BPA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334218 GT:AD:DP:GQ:PL 0/1:9,6:15:99:166,0,257
1 227259884 rs10495263 G A 867.14 PASS AB=0.507;AC=1;AF=0.50;AN=2;BaseQRankSum=0.237;DB;DP=67;Dels=0.0;FS=7.038;HRun=1;HaplotypeScore=0.9665;MQ=59.66;MQ0=0;MQRankSum=1.071;QD=12.94;ReadPosRankSum=-0.006;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC42BPA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334218 GT:AD:DP:GQ:PL 0/1:34,33:67:99:897,0,1158
1 227261403 rs10495260 T C 61.26 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.573;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.683;QD=6.81;ReadPosRankSum=-0.573;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC42BPA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334218 GT:AD:DP:GQ:PL 0/1:6,3:9:91.26:91,0,220
1 227268488 rs1929853 T G 371.54 PASS AB=0.267;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.11;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.457;QD=24.77;ReadPosRankSum=-0.196;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC42BPA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334218 GT:AD:DP:GQ:PL 0/1:4,11:15:99:402,0,124
1 227268836 rs12047828 T C 257.97 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=1.109;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.33;MQ0=0;MQRankSum=-0.627;QD=18.43;ReadPosRankSum=0.965;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC42BPA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334218 GT:AD:DP:GQ:PL 0/1:6,8:14:99:288,0,163
1 227288571 rs11806820 C T 153.05 PASS AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=25.51;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC42BPA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334218 GT:AD:DP:GQ:PL 0/1:1,5:6:24.59:183,0,25
1 227288655 rs2104863 G A 791.82 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.71;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC42BPA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334218 GT:AD:DP:GQ:PL 1/1:0,21:21:60.20:825,60,0
1 227289078 rs497291 A G 43.44 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=14.48;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC42BPA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334218 GT:AD:DP:GQ:PL 0/1:1,2:3:29.55:73,0,30
1 227299978 rs2458521 C T 884.25 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.538;DB;DP=51;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.708;QD=17.34;ReadPosRankSum=0.972;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC42BPA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334218 GT:AD:DP:GQ:PL 0/1:24,27:51:99:914,0,853
1 227300277 rs488104 G A 810.18 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=58.99;MQ0=0;QD=35.23;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC42BPA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334218 GT:AD:DP:GQ:PL 1/1:0,23:23:66.21:843,66,0
1 227330488 rs10916094 G T 88.62 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=59.02;MQ0=0;QD=29.54;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC42BPA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334218 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:121,9,0
1 227330759 rs12139502 A G 281.37 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.17;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC42BPA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334218 GT:AD:DP:GQ:PL 1/1:0,8:8:24.07:314,24,0
1 227333055 rs6675599 A G 640 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC42BPA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334218 GT:AD:DP:GQ:PL 1/1:0,20:20:57.17:673,57,0
1 227333141 rs60079575 T C 1062.20 PASS AB=0.433;AC=1;AF=0.50;AN=2;BaseQRankSum=3.498;DB;DP=60;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.246;QD=17.7;ReadPosRankSum=1.007;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC42BPA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334218 GT:AD:DP:GQ:PL 0/1:26,34:60:99:1092,0,761
1 227335329 rs6685954 T C 34.94 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.322;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.322;QD=4.37;ReadPosRankSum=-1.221;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC42BPA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334218 GT:AD:DP:GQ:PL 0/1:5,3:8:64.93:65,0,149
1 227348126 rs11800062 T C 351.85 PASS AB=0.522;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.462;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.585;QD=15.3;ReadPosRankSum=-1.2;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC42BPA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334218 GT:AD:DP:GQ:PL 0/1:12,11:23:99:382,0,422
1 227348349 rs3754419 A C 797.25 PASS AB=0.588;AC=1;AF=0.50;AN=2;BaseQRankSum=1.94;DB;DP=68;Dels=0.0;FS=4.805;HRun=0;HaplotypeScore=0.9332;MQ=60.0;MQ0=0;MQRankSum=-1.109;QD=11.72;ReadPosRankSum=1.006;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC42BPA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334218 GT:AD:DP:GQ:PL 0/1:40,28:68:99:827,0,1174
1 227381326 rs6696485 C T 225.27 PASS AB=0.3;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.166;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.11;MQ0=0;MQRankSum=0.546;QD=22.53;ReadPosRankSum=-0.895;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC42BPA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478573 GT:AD:DP:GQ:PL 0/1:3,7:10:96.12:255,0,96
1 227381373 rs3768436 G T 241.06 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.222;DB;DP=18;Dels=0.0;FS=0.0;HRun=8;HaplotypeScore=0.0;MQ=57.39;MQ0=0;MQRankSum=-0.133;QD=13.39;ReadPosRankSum=1.555;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC42BPA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334218 GT:AD:DP:GQ:PL 0/1:8,10:18:99:271,0,269
1 227381674 rs35780410 TA T 329.42 PASS AB=0.656;AC=1;AF=0.50;AN=2;BaseQRankSum=2.963;DB;DP=21;FS=0.0;HRun=2;HaplotypeScore=49.3228;IndelType=D;MQ=59.63;MQ0=0;MQRankSum=1.595;QD=15.69;ReadPosRankSum=-0.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC42BPA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334218 GT:AD:DP:GQ:PL 0/1:10,11:21:99:368,0,345
1 227387143 rs3768435 A G 108.11 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=18.02;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC42BPA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334218 GT:AD:DP:GQ:PL 0/1:2,4:6:62.59:138,0,63
1 227387361 rs3768434 A G 825.64 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.4;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC42BPA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334218 GT:AD:DP:GQ:PL 1/1:0,24:24:63.21:859,63,0
1 227400792 rs1513612 A T 419.71 PASS AB=0.548;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.211;DB;DP=31;Dels=0.0;FS=6.34;HRun=0;HaplotypeScore=0.7887;MQ=59.4;MQ0=0;MQRankSum=0.337;QD=13.54;ReadPosRankSum=2.441;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC42BPA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462553 GT:AD:DP:GQ:PL 0/1:17,14:31:99:450,0,539
1 227504613 rs4653822 G C 306.98 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC42BPA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334218 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:340,24,0
1 227505088 rs12128753 A C 94.49 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.5;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC42BPA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366767 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:127,9,0
1 227681280 . A C 40.25 MQFilter40;QDFilter2 AB=0.784;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.283;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=15.89;MQ0=20;MQRankSum=1.302;QD=1.09;ReadPosRankSum=-1.302;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP11-275O4.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000430210 GT:AD:DP:GQ:PL 0/1:29,8:37:70.24:70,0,190
1 227681289 . G A 67.67 MQFilter40;QDFilter2 AB=0.727;AC=1;AF=0.50;AN=2;BaseQRankSum=3.23;DP=44;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=4.6033;MQ=15.97;MQ0=24;MQRankSum=1.309;QD=1.54;ReadPosRankSum=-1.135;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP11-275O4.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000430210 GT:AD:DP:GQ:PL 0/1:32,12:44:97.66:98,0,209
1 227681293 rs139795698 T G 195.57 MQFilter40 AB=0.409;AC=1;AF=0.50;AN=2;BaseQRankSum=2.5;DB;DP=44;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=4.6033;MQ=16.56;MQ0=23;MQRankSum=1.936;QD=4.44;ReadPosRankSum=-1.232;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP11-275O4.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000430210 GT:AD:DP:GQ:PL 0/1:18,26:44:99:226,0,114
1 227681315 . A C 317.22 MQFilter40 AB=0.433;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.764;DP=60;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=17.53;MQ0=30;MQRankSum=2.266;QD=5.29;ReadPosRankSum=0.104;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP11-275O4.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000430210 GT:AD:DP:GQ:PL 0/1:26,34:60:99:347,0,162
1 227681379 . C T 385.90 MQFilter40 AB=0.752;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.016;DP=117;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=23.49;MQ0=40;MQRankSum=0.877;QD=3.3;ReadPosRankSum=-0.633;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP11-275O4.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000430210 GT:AD:DP:GQ:PL 0/1:88,29:117:99:416,0,1415
1 227681475 rs4653844 T C 2985.60 MQFilter40 AB=0.38;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.523;DB;DP=208;Dels=0.0;FS=8.542;HRun=0;HaplotypeScore=3.8091;MQ=39.08;MQ0=6;MQRankSum=-1.575;QD=14.35;ReadPosRankSum=-3.471;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA_pseudogene;SNPEFF_GENE_NAME=AL451054.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475907 GT:AD:DP:GQ:PL 0/1:79,129:208:99:3016,0,1934
1 227681581 rs76425427 G A 716.07 SnpCluster AB=0.677;AC=1;AF=0.50;AN=2;BaseQRankSum=5.83;DB;DP=161;Dels=0.0;FS=7.355;HRun=0;HaplotypeScore=11.0788;MQ=43.13;MQ0=3;MQRankSum=-1.796;QD=4.45;ReadPosRankSum=-0.162;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA_pseudogene;SNPEFF_GENE_NAME=AL451054.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475907 GT:AD:DP:GQ:PL 0/1:109,52:161:99:746,0,3118
1 227681585 rs74748450 C T 473.40 SnpCluster AB=0.675;AC=1;AF=0.50;AN=2;BaseQRankSum=1.593;DB;DP=157;Dels=0.0;FS=10.593;HRun=0;HaplotypeScore=12.6505;MQ=42.53;MQ0=3;MQRankSum=-2.172;QD=3.02;ReadPosRankSum=0.255;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA_pseudogene;SNPEFF_GENE_NAME=AL451054.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475907 GT:AD:DP:GQ:PL 0/1:106,51:157:99:503,0,3093
1 227681586 rs75421617 C T 244.67 QDFilter2;SnpCluster AB=0.775;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.587;DB;DP=160;Dels=0.0;FS=8.122;HRun=0;HaplotypeScore=12.6505;MQ=42.35;MQ0=3;MQRankSum=-1.603;QD=1.53;ReadPosRankSum=1.565;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA_pseudogene;SNPEFF_GENE_NAME=AL451054.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475907 GT:AD:DP:GQ:PL 0/1:124,36:160:99:275,0,3361
1 227695408 . T G 100.64 MQFilter40;QDFilter2 AC=2;AF=1.00;AN=2;DP=62;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.4875;MQ=11.78;MQ0=33;QD=1.62;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=RP11-275O4.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000422837 GT:AD:DP:GQ:PL 1/1:12,50:62:15:133,15,0
1 227695430 . A C 48 MQFilter40;QDFilter2 AC=2;AF=1.00;AN=2;DP=52;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.8321;MQ=10.11;MQ0=33;QD=0.92;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=RP11-275O4.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000422837 GT:AD:DP:GQ:PL 1/1:12,40:52:9:80,9,0
1 227785906 rs2999743 A G 74.93 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.3123;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=18.73;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ZNF678;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343776 GT:AD:DP:GQ:PL 0/1:1,3:4:29.72:105,0,30
1 227786033 rs2935146 G A 522.83 PASS AB=0.478;AC=1;AF=0.50;AN=2;BaseQRankSum=3.441;DB;DP=46;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.8675;MQ=46.47;MQ0=0;MQRankSum=-3.969;QD=11.37;ReadPosRankSum=-1.264;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ZNF678;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343776 GT:AD:DP:GQ:PL 0/1:22,24:46:99:553,0,671
1 227786202 rs79329405 GT G 129.65 PASS AB=0.737;AC=1;AF=0.50;AN=2;BaseQRankSum=1.702;DB;DP=28;FS=0.0;HRun=8;HaplotypeScore=73.9878;IndelType=D;MQ=54.15;MQ0=0;MQRankSum=-0.109;QD=4.63;ReadPosRankSum=0.833;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ZNF678;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343776 GT:AD:DP:GQ:PL 0/1:18,10:28:99:169,0,405
1 227834233 rs112327170 TC T 908.75 PASS AB=0.659;AC=1;AF=0.50;AN=2;BaseQRankSum=5.093;DB;DP=83;FS=3.628;HRun=9;HaplotypeScore=225.9956;IndelType=D;MQ=59.63;MQ0=0;MQRankSum=1.646;QD=10.95;ReadPosRankSum=-0.374;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ZNF678;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343776 GT:AD:DP:GQ:PL 0/1:40,43:83:99:948,0,943
1 227834400 rs6426468 G A 1297.42 PASS AB=0.569;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.684;DB;DP=124;Dels=0.0;FS=0.757;HRun=0;HaplotypeScore=1.864;MQ=59.4;MQ0=0;MQRankSum=0.093;QD=10.46;ReadPosRankSum=-0.077;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ZNF678;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343776 GT:AD:DP:GQ:PL 0/1:70,53:124:99:1327,0,2199
1 227886623 rs6426475 T A 38.87 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=1.3;DB;DP=7;Dels=0.0;FS=0.0;HRun=6;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.3;QD=5.55;ReadPosRankSum=1.3;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=ZNF847P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000412638 GT:AD:DP:GQ:PL 0/1:3,4:7:68.86:69,0,102
1 227893644 rs35950778 T TA 67.88 QDFilter2 AB=0.8;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.417;DB;DP=36;FS=0.0;HRun=22;HaplotypeScore=268.4302;IndelType=I;MQ=47.68;MQ0=0;MQRankSum=1.354;QD=1.89;ReadPosRankSum=1.543;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=ZNF847P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000400949 GT:AD:DP:GQ:PL 0/1:20,8:36:77.84:107,0,78
1 227894245 rs34260118 T C 938.91 PASS AB=0.436;AC=1;AF=0.50;AN=2;BaseQRankSum=1.451;DB;DP=55;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.536;QD=17.07;ReadPosRankSum=0.552;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=ZNF847P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000400949 GT:AD:DP:GQ:PL 0/1:24,31:55:99:969,0,770
1 227920061 rs1060295 T G 215.19 PASS AB=0.621;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.373;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9363;MQ=58.45;MQ0=0;MQRankSum=0.12;QD=7.17;ReadPosRankSum=0.743;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=JMJD4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465251 GT:AD:DP:GQ:PL 0/1:18,11:30:99:245,0,548
1 227921796 rs11804020 C T 93.84 PASS AB=0.692;AC=1;AF=0.50;AN=2;BaseQRankSum=2.237;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=-0.54;QD=7.22;ReadPosRankSum=-2.237;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=JMJD4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366758 GT:AD:DP:GQ:PL 0/1:9,4:13:99:124,0,288
1 227923081 rs7419238 G A 277.23 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.72;SNPEFF_AMINO_ACID_CHANGE=A11V;SNPEFF_CODON_CHANGE=gCg/gTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_227922713_227923112;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=JMJD4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366758 GT:AD:DP:GQ:PL 1/1:0,10:10:24.08:310,24,0
1 227935280 rs2236361 C T 38.48 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.358;QD=7.7;ReadPosRankSum=-0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SNAP47;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315781 GT:AD:DP:GQ:PL 0/1:3,2:5:68.47:68,0,111
1 227935355 rs2236360 T C 284.04 PASS AB=0.524;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.035;DB;DP=21;Dels=0.0;FS=8.28;HRun=0;HaplotypeScore=0.0;MQ=59.11;MQ0=0;MQRankSum=-0.106;QD=13.53;ReadPosRankSum=-0.387;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SNAP47;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315781 GT:AD:DP:GQ:PL 0/1:11,10:21:99:314,0,289
1 227935444 rs2236359 A G 519.29 PASS AB=0.323;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.296;DB;DP=31;Dels=0.0;FS=6.429;HRun=3;HaplotypeScore=0.0;MQ=58.5;MQ0=0;MQRankSum=-0.306;QD=16.75;ReadPosRankSum=-0.919;SNPEFF_AMINO_ACID_CHANGE=R48G;SNPEFF_CODON_CHANGE=Agg/Ggg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_227935393_227935934;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SNAP47;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000315781 GT:AD:DP:GQ:PL 0/1:10,21:31:99:549,0,258
1 227968033 rs9786978 T C 44.44 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=14.81;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SNAP47;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315781 GT:AD:DP:GQ:PL 0/1:1,2:3:30.98:74,0,31
1 228003967 rs12121588 G A 358.54 PASS AB=0.536;AC=1;AF=0.50;AN=2;BaseQRankSum=0.645;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.39;MQ0=0;MQRankSum=0.599;QD=12.36;ReadPosRankSum=0.369;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRSS38;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366757 GT:AD:DP:GQ:PL 0/1:15,13:29:99:389,0,414
1 228033197 rs9426581 A G 378.05 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.08;SNPEFF_AMINO_ACID_CHANGE=M204V;SNPEFF_CODON_CHANGE=Atg/Gtg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_228033171_228033313;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRSS38;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366757 GT:AD:DP:GQ:PL 1/1:0,13:13:33.07:411,33,0
1 228109137 rs35718701 A G 169.91 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.493;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.2;MQ0=0;MQRankSum=-0.66;QD=13.07;ReadPosRankSum=-1.2;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WNT9A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000497852 GT:AD:DP:GQ:PL 0/1:7,6:13:99:200,0,219
1 228112121 rs4653889 A G 457.85 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.16;MQ0=0;QD=30.52;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WNT9A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272164 GT:AD:DP:GQ:PL 1/1:0,15:15:36.12:491,36,0
1 228113046 rs8192629 C T 125.32 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.06;SNPEFF_AMINO_ACID_CHANGE=A90;SNPEFF_CODON_CHANGE=gcG/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_228112964_228113220;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WNT9A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000272164 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:158,12,0
1 228113163 rs3795768 A G 181.07 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.87;SNPEFF_AMINO_ACID_CHANGE=A51;SNPEFF_CODON_CHANGE=gcT/gcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_228112964_228113220;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WNT9A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000272164 GT:AD:DP:GQ:PL 1/1:0,7:7:18.05:214,18,0
1 228159869 rs72472998 G A 388.87 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=1.156;DB;DP=21;Dels=0.0;FS=4.612;HRun=0;HaplotypeScore=0.0;MQ=58.2;MQ0=0;MQRankSum=1.902;QD=18.52;ReadPosRankSum=-0.41;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=pseudogene;SNPEFF_GENE_NAME=RP11-192I3.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000425003 GT:AD:DP:GQ:PL 0/1:7,14:21:99:419,0,183
1 228159899 rs150943892 G A 260 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=12;Dels=0.0;FS=3.09;HRun=0;HaplotypeScore=0.8667;MQ=56.82;MQ0=0;MQRankSum=0.382;QD=21.67;ReadPosRankSum=0.978;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=pseudogene;SNPEFF_GENE_NAME=RP11-192I3.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000425003 GT:AD:DP:GQ:PL 0/1:4,8:12:90.36:290,0,90
1 228159904 rs139802884 C T 296.34 PASS AB=0.231;AC=1;AF=0.50;AN=2;BaseQRankSum=1.611;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=55.87;MQ0=0;MQRankSum=-0.752;QD=21.17;ReadPosRankSum=0.107;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=pseudogene;SNPEFF_GENE_NAME=RP11-192I3.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000425003 GT:AD:DP:GQ:PL 0/1:3,10:14:36.46:326,0,36
1 228159944 rs75748115 T C 149.76 PASS AB=0.273;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.898;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=51.34;MQ0=0;MQRankSum=0.0;QD=13.61;ReadPosRankSum=0.48;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=pseudogene;SNPEFF_GENE_NAME=RP11-192I3.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000425003 GT:AD:DP:GQ:PL 0/1:3,8:11:58.36:180,0,58
1 228160112 rs143520683 C T 101.60 MQFilter40 AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=0.851;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=38.47;MQ0=1;MQRankSum=-1.951;QD=9.24;ReadPosRankSum=-1.098;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=pseudogene;SNPEFF_GENE_NAME=RP11-192I3.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000425003 GT:AD:DP:GQ:PL 0/1:5,6:11:99:132,0,122
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1 228160986 rs114277923 A T 300.80 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=0.636;DB;DP=14;Dels=0.0;FS=2.522;HRun=0;HaplotypeScore=0.0;MQ=53.52;MQ0=0;MQRankSum=0.212;QD=21.49;ReadPosRankSum=0.495;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=pseudogene;SNPEFF_GENE_NAME=RP11-192I3.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000425003 GT:AD:DP:GQ:PL 0/1:4,10:14:99:331,0,108
1 228161029 rs74744412 A G 190.12 PASS AB=0.3;AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DB;DP=10;Dels=0.0;FS=3.01;HRun=1;HaplotypeScore=0.0;MQ=53.67;MQ0=0;MQRankSum=-1.386;QD=19.01;ReadPosRankSum=-0.731;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=pseudogene;SNPEFF_GENE_NAME=RP11-192I3.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000425003 GT:AD:DP:GQ:PL 0/1:3,7:10:92.88:220,0,93
1 228161096 rs72472999 G A 202.29 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=0.38;DB;DP=12;Dels=0.0;FS=6.154;HRun=0;HaplotypeScore=0.8321;MQ=55.38;MQ0=0;MQRankSum=-0.529;QD=16.86;ReadPosRankSum=1.461;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=pseudogene;SNPEFF_GENE_NAME=RP11-192I3.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000425003 GT:AD:DP:GQ:PL 0/1:5,7:12:99:232,0,170
1 228161121 rs114562737 T G 128.98 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=1.134;DB;DP=13;Dels=0.0;FS=2.533;HRun=0;HaplotypeScore=0.0;MQ=54.35;MQ0=0;MQRankSum=0.135;QD=9.92;ReadPosRankSum=0.38;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=pseudogene;SNPEFF_GENE_NAME=RP11-192I3.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000425003 GT:AD:DP:GQ:PL 0/1:8,5:13:99:159,0,242
1 228161165 rs192389758 G A 50.30 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=1.606;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=49.93;MQ0=1;MQRankSum=-1.268;QD=2.96;ReadPosRankSum=0.423;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=pseudogene;SNPEFF_GENE_NAME=RP11-192I3.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000425003 GT:AD:DP:GQ:PL 0/1:12,4:17:80.29:80,0,275
1 228161183 rs183650490 C T 50.88 PASS AB=0.769;AC=1;AF=0.50;AN=2;BaseQRankSum=0.382;DB;DP=14;Dels=0.0;FS=3.09;HRun=0;HaplotypeScore=0.734;MQ=48.02;MQ0=1;MQRankSum=-0.978;QD=3.63;ReadPosRankSum=0.715;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=pseudogene;SNPEFF_GENE_NAME=RP11-192I3.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000425003 GT:AD:DP:GQ:PL 0/1:10,3:14:80.87:81,0,286
1 228161376 rs191759517 C T 211.32 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.382;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=41.06;MQ0=1;MQRankSum=-0.566;QD=17.61;ReadPosRankSum=0.382;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=pseudogene;SNPEFF_GENE_NAME=RP11-192I3.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000425003 GT:AD:DP:GQ:PL 0/1:4,8:12:81.24:241,0,81
1 228161413 rs621372 T C 284.12 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=48.43;MQ0=1;QD=25.83;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=pseudogene;SNPEFF_GENE_NAME=RP11-192I3.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000425003 GT:AD:DP:GQ:PL 1/1:0,11:11:27.05:317,27,0
1 228161511 rs79139383 G A 311.18 PASS AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=0.107;DB;DP=12;Dels=0.0;FS=3.424;HRun=0;HaplotypeScore=0.0;MQ=54.78;MQ0=0;MQRankSum=0.537;QD=25.93;ReadPosRankSum=-2.256;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=pseudogene;SNPEFF_GENE_NAME=RP11-192I3.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000425003 GT:AD:DP:GQ:PL 0/1:2,10:12:46.52:341,0,47
1 228161798 rs76181126 G A 133.36 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.186;DB;DP=12;Dels=0.0;FS=13.222;HRun=0;HaplotypeScore=0.0;MQ=49.24;MQ0=0;MQRankSum=-0.387;QD=11.11;ReadPosRankSum=0.143;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=pseudogene;SNPEFF_GENE_NAME=RP11-192I3.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000425003 GT:AD:DP:GQ:PL 0/1:6,6:12:99:163,0,133
1 228161820 rs143192911 G A 73.43 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.38;DB;DP=13;Dels=0.0;FS=12.175;HRun=0;HaplotypeScore=1.6918;MQ=51.83;MQ0=0;MQRankSum=0.689;QD=5.65;ReadPosRankSum=1.977;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=pseudogene;SNPEFF_GENE_NAME=RP11-192I3.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000425003 GT:AD:DP:GQ:PL 0/1:8,5:13:99:103,0,157
1 228161852 rs77517495 G C 33.70 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.876;DB;DP=9;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=2.7044;MQ=54.56;MQ0=0;MQRankSum=0.729;QD=3.74;ReadPosRankSum=-1.307;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=pseudogene;SNPEFF_GENE_NAME=RP11-192I3.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000425003 GT:AD:DP:GQ:PL 0/1:5,4:9:63.69:64,0,135
1 228210179 rs3094911 A G 123.58 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.89;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WNT3A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284523 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:156,12,0
1 228284991 rs2070960 C T 472.55 PASS AB=0.485;AC=1;AF=0.50;AN=2;BaseQRankSum=1.927;DB;DP=33;Dels=0.0;FS=8.506;HRun=1;HaplotypeScore=0.0;MQ=59.3;MQ0=0;MQRankSum=2.792;QD=14.32;ReadPosRankSum=-2.179;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473546 GT:AD:DP:GQ:PL 0/1:16,17:33:99:503,0,503
1 228285579 rs143463838 C T 302.70 PASS AB=0.567;AC=1;AF=0.50;AN=2;BaseQRankSum=1.926;DB;DP=30;Dels=0.0;FS=9.037;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.528;QD=10.09;ReadPosRankSum=1.129;SNPEFF_AMINO_ACID_CHANGE=A128;SNPEFF_CODON_CHANGE=gcC/gcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_228285553_228286910;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARF1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000542941 GT:AD:DP:GQ:PL 0/1:17,13:30:99:333,0,535
1 228327999 rs4653908 C T 41.63 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=13.88;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GUK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366730 GT:AD:DP:GQ:PL 0/1:1,2:3:32.73:72,0,33
1 228333652 rs11577976 G A 237.52 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.835;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.491;QD=11.88;ReadPosRankSum=-0.113;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GUK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469973 GT:AD:DP:GQ:PL 0/1:10,10:20:99:268,0,299
1 228335125 rs1803695 C T 651.74 PASS AB=0.463;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.118;DB;DP=41;Dels=0.0;FS=2.82;HRun=0;HaplotypeScore=0.0;MQ=58.98;MQ0=0;MQRankSum=-0.51;QD=15.9;ReadPosRankSum=-0.458;SNPEFF_AMINO_ACID_CHANGE=A111;SNPEFF_CODON_CHANGE=gcC/gcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_228335107_228335245;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GUK1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366723 GT:AD:DP:GQ:PL 0/1:19,22:41:99:682,0,549
1 228335959 rs11580599 C T 46.98 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=11.74;ReadPosRankSum=-0.727;SNPEFF_AMINO_ACID_CHANGE=P188L;SNPEFF_CODON_CHANGE=cCc/cTc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_228335935_228335989;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GUK1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366723 GT:AD:DP:GQ:PL 0/1:1,3:4:32.20:77,0,32
1 228352160 rs4348717 T C 46.95 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=9.39;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GJC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366714 GT:AD:DP:GQ:PL 1/1:0,5:5:6.02:78,6,0
1 228391591 rs12022917 G C 54.05 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.02;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf145;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000337335 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:85,6,0
1 228399482 rs11804508 C G 138.48 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.452;DB;DP=16;Dels=0.0;FS=8.616;HRun=0;HaplotypeScore=0.9159;MQ=58.55;MQ0=0;MQRankSum=-0.452;QD=8.65;ReadPosRankSum=-1.226;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf145;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295012 GT:AD:DP:GQ:PL 0/1:8,8:16:99:168,0,246
1 228402047 rs1620111 A G 676.74 PASS AB=0.559;AC=1;AF=0.50;AN=2;BaseQRankSum=1.296;DB;DP=59;Dels=0.0;FS=1.166;HRun=0;HaplotypeScore=0.0;MQ=58.02;MQ0=0;MQRankSum=-0.151;QD=11.47;ReadPosRankSum=0.975;SNPEFF_AMINO_ACID_CHANGE=L477;SNPEFF_CODON_CHANGE=ctA/ctG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_228401875_228402135;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000284548 GT:AD:DP:GQ:PL 0/1:33,26:59:99:707,0,802
1 228402121 rs1771487 A G 586.75 PASS AB=0.61;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.157;DB;DP=60;Dels=0.0;FS=1.104;HRun=1;HaplotypeScore=1.5317;MQ=57.66;MQ0=0;MQRankSum=-0.223;QD=9.78;ReadPosRankSum=-0.372;SNPEFF_AMINO_ACID_CHANGE=Q502R;SNPEFF_CODON_CHANGE=cAg/cGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_228401875_228402135;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000284548 GT:AD:DP:GQ:PL 0/1:36,23:60:99:617,0,1029
1 228402283 rs1771486 C G 196.58 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=1.2;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.312;QD=15.12;ReadPosRankSum=0.101;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284548 GT:AD:DP:GQ:PL 0/1:6,7:13:99:227,0,171
1 228402508 rs2776853 C T 176.93 PASS AB=0.652;AC=1;AF=0.50;AN=2;BaseQRankSum=1.323;DB;DP=23;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9332;MQ=60.0;MQ0=0;MQRankSum=0.484;QD=7.69;ReadPosRankSum=-0.032;SNPEFF_AMINO_ACID_CHANGE=L513;SNPEFF_CODON_CHANGE=Ctg/Ttg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_228402491_228402799;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000284548 GT:AD:DP:GQ:PL 0/1:15,8:23:99:207,0,478
1 228404198 rs61501937 G A 217.19 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.747;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.747;QD=27.15;ReadPosRankSum=-0.747;SNPEFF_AMINO_ACID_CHANGE=A724;SNPEFF_CODON_CHANGE=gcG/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_228404122_228404403;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000284548 GT:AD:DP:GQ:PL 1/1:1,7:8:18.06:250,18,0
1 228404668 rs3795777 T C 206.62 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=3.067;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.794;QD=13.77;ReadPosRankSum=1.562;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284548 GT:AD:DP:GQ:PL 0/1:8,7:15:99:237,0,275
1 228404997 rs115777899 C T 346.70 PASS AB=0.519;AC=1;AF=0.50;AN=2;BaseQRankSum=1.383;DB;DP=27;Dels=0.0;FS=16.693;HRun=0;HaplotypeScore=0.9916;MQ=59.14;MQ0=0;MQRankSum=0.024;QD=12.84;ReadPosRankSum=-0.898;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284548 GT:AD:DP:GQ:PL 0/1:14,13:27:99:377,0,414
1 228405118 rs5781507 G GA 214.01 PASS AC=2;AF=1.00;AN=2;DB;DP=10;FS=0.0;HRun=10;HaplotypeScore=19.0753;IndelType=I;MQ=60.0;MQ0=0;QD=21.4;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284548 GT:AD:DP:GQ:PL 1/1:2,8:10:24.06:256,24,0
1 228412106 rs1771482 T C 546.16 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.42;DB;DP=36;Dels=0.0;FS=2.116;HRun=0;HaplotypeScore=0.8321;MQ=59.36;MQ0=0;MQRankSum=0.744;QD=15.17;ReadPosRankSum=0.206;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284548 GT:AD:DP:GQ:PL 0/1:18,18:36:99:576,0,585
1 228412227 rs1771480 T C 719.73 PASS AB=0.542;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.739;DB;DP=83;Dels=0.0;FS=11.272;HRun=0;HaplotypeScore=4.4032;MQ=59.44;MQ0=0;MQRankSum=-1.087;QD=8.67;ReadPosRankSum=1.508;SNPEFF_AMINO_ACID_CHANGE=S907;SNPEFF_CODON_CHANGE=agT/agC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_228412160_228412435;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000284548 GT:AD:DP:GQ:PL 0/1:45,38:83:99:750,0,932
1 228412228 rs1757153 G A 732.77 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=0.169;DB;DP=81;Dels=0.0;FS=10.327;HRun=0;HaplotypeScore=4.4032;MQ=59.43;MQ0=0;MQRankSum=0.633;QD=9.05;ReadPosRankSum=1.925;SNPEFF_AMINO_ACID_CHANGE=A908T;SNPEFF_CODON_CHANGE=Gcc/Acc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_228412160_228412435;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000284548 GT:AD:DP:GQ:PL 0/1:45,35:81:99:763,0,945
1 228412308 rs1757152 G A 896.93 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.106;DB;DP=64;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=1.9997;MQ=58.91;MQ0=0;MQRankSum=-1.125;QD=14.01;ReadPosRankSum=1.252;SNPEFF_AMINO_ACID_CHANGE=S934;SNPEFF_CODON_CHANGE=tcG/tcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_228412160_228412435;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000284548 GT:AD:DP:GQ:PL 0/1:36,28:64:99:927,0,1068
1 228430697 rs1771456 A G 41.96 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.026;QD=10.49;ReadPosRankSum=1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284548 GT:AD:DP:GQ:PL 0/1:2,2:4:67.18:72,0,67
1 228431095 rs1771455 A G 432.22 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.555;DB;DP=38;Dels=0.0;FS=1.356;HRun=1;HaplotypeScore=0.0;MQ=56.25;MQ0=0;MQRankSum=0.555;QD=11.37;ReadPosRankSum=1.022;SNPEFF_AMINO_ACID_CHANGE=T1047;SNPEFF_CODON_CHANGE=acA/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_228430884_228431159;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000284548 GT:AD:DP:GQ:PL 0/1:19,19:38:99:462,0,539
1 228431930 rs10916293 C T 1014.18 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.962;DB;DP=71;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9774;MQ=59.08;MQ0=0;MQRankSum=-1.434;QD=14.28;ReadPosRankSum=0.294;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284548 GT:AD:DP:GQ:PL 0/1:35,35:71:99:1044,0,1156
1 228432987 rs1757129 G C 286.93 PASS AB=0.353;AC=1;AF=0.50;AN=2;BaseQRankSum=0.352;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.854;QD=16.88;ReadPosRankSum=-0.653;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284548 GT:AD:DP:GQ:PL 0/1:6,11:17:99:317,0,191
1 228433217 rs2487384 A G 1145.29 PASS AB=0.488;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.556;DB;DP=85;Dels=0.0;FS=1.811;HRun=1;HaplotypeScore=1.367;MQ=59.78;MQ0=0;MQRankSum=0.205;QD=13.47;ReadPosRankSum=-0.633;SNPEFF_AMINO_ACID_CHANGE=T1195;SNPEFF_CODON_CHANGE=acA/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_228433114_228433389;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000284548 GT:AD:DP:GQ:PL 0/1:41,43:85:99:1175,0,1332
1 228433491 rs1888681 T C 207.02 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=0.044;DB;DP=18;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.844;QD=11.5;ReadPosRankSum=0.4;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284548 GT:AD:DP:GQ:PL 0/1:10,8:18:99:237,0,336
1 228433556 rs1888680 A T 32.93 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=0.922;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.922;QD=4.7;ReadPosRankSum=-0.198;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284548 GT:AD:DP:GQ:PL 0/1:5,2:7:62.92:63,0,190
1 228434395 rs7517088 T C 857.93 PASS AB=0.492;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.878;DB;DP=61;Dels=0.0;FS=6.913;HRun=1;HaplotypeScore=1.5782;MQ=53.63;MQ0=0;MQRankSum=0.959;QD=14.06;ReadPosRankSum=0.007;SNPEFF_AMINO_ACID_CHANGE=A1308;SNPEFF_CODON_CHANGE=gcT/gcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_228434229_228434504;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000284548 GT:AD:DP:GQ:PL 0/1:30,31:61:99:888,0,919
1 228434467 rs7517108 T C 1021.13 PASS AB=0.542;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.654;DB;DP=83;Dels=0.0;FS=3.127;HRun=1;HaplotypeScore=0.9998;MQ=57.74;MQ0=0;MQRankSum=0.781;QD=12.3;ReadPosRankSum=0.535;SNPEFF_AMINO_ACID_CHANGE=A1332;SNPEFF_CODON_CHANGE=gcT/gcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_228434229_228434504;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000284548 GT:AD:DP:GQ:PL 0/1:45,38:83:99:1051,0,1299
1 228434602 rs1411915 A T 640.86 PASS AB=0.378;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.335;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.581;QD=17.32;ReadPosRankSum=0.329;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284548 GT:AD:DP:GQ:PL 0/1:14,23:37:99:671,0,459
1 228437603 rs6426494 T C 866.78 PASS AB=0.396;AC=1;AF=0.50;AN=2;BaseQRankSum=3.226;DB;DP=53;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=2.6123;MQ=59.56;MQ0=0;MQRankSum=1.007;QD=16.35;ReadPosRankSum=1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284548 GT:AD:DP:GQ:PL 0/1:21,32:53:99:897,0,600
1 228444318 rs7532144 T G 792.63 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=1.499;DB;DP=48;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9578;MQ=58.55;MQ0=0;MQRankSum=1.28;QD=16.51;ReadPosRankSum=-0.799;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284548 GT:AD:DP:GQ:PL 0/1:18,30:48:99:823,0,553
1 228444565 rs7532342 T A 1772.01 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.98;MQ0=0;QD=30.55;SNPEFF_AMINO_ACID_CHANGE=V1508D;SNPEFF_CODON_CHANGE=gTc/gAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_228444352_228444627;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000284548 GT:AD:DP:GQ:PL 1/1:0,58:58:99:1805,153,0
1 228444605 . C G 662.32 PASS AB=0.51;AC=1;AF=0.50;AN=2;BaseQRankSum=2.055;DP=50;Dels=0.0;FS=10.413;HRun=0;HaplotypeScore=0.0;MQ=59.07;MQ0=0;MQRankSum=0.238;QD=13.25;ReadPosRankSum=-1.487;SNPEFF_AMINO_ACID_CHANGE=L1521;SNPEFF_CODON_CHANGE=ctC/ctG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_228444352_228444627;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000284548 GT:AD:DP:GQ:PL 0/1:25,24:50:99:692,0,758
1 228444741 rs3795780 C T 179.34 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=0.143;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9958;MQ=60.0;MQ0=0;MQRankSum=0.387;QD=16.3;ReadPosRankSum=-0.387;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284548 GT:AD:DP:GQ:PL 0/1:5,6:11:99:209,0,161
1 228447513 rs7525075 T G 351.56 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=2.246;DB;DP=26;Dels=0.0;FS=3.203;HRun=1;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=-0.769;QD=13.52;ReadPosRankSum=1.016;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284548 GT:AD:DP:GQ:PL 0/1:14,12:26:99:382,0,369
1 228447519 rs7525078 T A 301.80 PASS AB=0.522;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.677;DB;DP=23;Dels=0.0;FS=3.222;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.248;QD=13.12;ReadPosRankSum=0.657;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284548 GT:AD:DP:GQ:PL 0/1:12,11:23:99:332,0,404
1 228456147 rs878388 T C 404.77 PASS AB=0.606;AC=1;AF=0.50;AN=2;BaseQRankSum=3.076;DB;DP=33;Dels=0.0;FS=4.046;HRun=0;HaplotypeScore=1.4105;MQ=60.0;MQ0=0;MQRankSum=1.013;QD=12.27;ReadPosRankSum=0.608;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284548 GT:AD:DP:GQ:PL 0/1:20,13:33:99:435,0,725
1 228461129 rs1188724 A G 780.37 PASS AB=0.391;AC=1;AF=0.50;AN=2;BaseQRankSum=0.394;DB;DP=46;Dels=0.0;FS=4.351;HRun=0;HaplotypeScore=0.8321;MQ=59.5;MQ0=0;MQRankSum=-0.686;QD=16.96;ReadPosRankSum=2.082;SNPEFF_AMINO_ACID_CHANGE=H520R;SNPEFF_CODON_CHANGE=cAc/cGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_228460973_228461248;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000359599 GT:AD:DP:GQ:PL 0/1:18,28:46:99:810,0,490
1 228461408 rs35161421 A AG 1134.78 PASS AC=2;AF=1.00;AN=2;DB;DP=29;FS=0.0;HRun=3;HaplotypeScore=93.9811;IndelType=I;MQ=58.39;MQ0=0;QD=39.13;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284548 GT:AD:DP:GQ:PL 1/1:1,28:29:84.28:1177,84,0
1 228461757 rs474735 G A 69.05 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=1.221;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=54.65;MQ0=0;MQRankSum=0.322;QD=7.67;ReadPosRankSum=0.322;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284548 GT:AD:DP:GQ:PL 0/1:6,3:9:99:99,0,141
1 228464062 rs11590548 G A 158.24 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.663;DB;DP=16;Dels=0.0;FS=8.436;HRun=1;HaplotypeScore=0.6651;MQ=55.52;MQ0=0;MQRankSum=1.027;QD=9.89;ReadPosRankSum=0.068;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284548 GT:AD:DP:GQ:PL 0/1:8,8:16:99:188,0,185
1 228464100 rs936884 G A 392.10 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.298;DB;DP=24;Dels=0.0;FS=1.685;HRun=0;HaplotypeScore=0.0;MQ=51.77;MQ0=0;MQRankSum=-0.119;QD=16.34;ReadPosRankSum=-0.06;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284548 GT:AD:DP:GQ:PL 0/1:9,15:24:99:422,0,233
1 228464248 rs1188721 T G 173.99 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=1.855;DB;DP=14;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.8667;MQ=53.03;MQ0=0;MQRankSum=0.212;QD=12.43;ReadPosRankSum=1.256;SNPEFF_AMINO_ACID_CHANGE=D2106E;SNPEFF_CODON_CHANGE=gaT/gaG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_228464151_228464417;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000284548 GT:AD:DP:GQ:PL 0/1:6,8:14:99:204,0,135
1 228464276 rs1188722 T C 175.31 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=1.614;DB;DP=14;Dels=0.0;FS=5.219;HRun=0;HaplotypeScore=0.0;MQ=56.62;MQ0=0;MQRankSum=-1.356;QD=12.52;ReadPosRankSum=0.065;SNPEFF_AMINO_ACID_CHANGE=F2116L;SNPEFF_CODON_CHANGE=Ttc/Ctc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_228464151_228464417;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000284548 GT:AD:DP:GQ:PL 0/1:8,6:14:99:205,0,209
1 228464842 rs936885 C G 248.58 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=1.892;DB;DP=15;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.386;QD=16.57;ReadPosRankSum=0.386;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284548 GT:AD:DP:GQ:PL 0/1:7,8:15:99:279,0,140
1 228465346 rs493945 A G 76.76 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.017;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.05;MQ0=0;MQRankSum=-0.421;QD=9.6;ReadPosRankSum=-2.017;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284548 GT:AD:DP:GQ:PL 0/1:4,4:8:99:107,0,142
1 228465370 rs867599 T G 121.85 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.583;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.2;MQ0=0;MQRankSum=0.467;QD=9.37;ReadPosRankSum=-0.467;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284548 GT:AD:DP:GQ:PL 0/1:7,6:13:99:152,0,204
1 228466750 rs3795782 T C 237.27 PASS AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.119;DB;DP=19;Dels=0.0;FS=1.957;HRun=1;HaplotypeScore=0.0;MQ=58.78;MQ0=0;MQRankSum=-0.353;QD=12.49;ReadPosRankSum=-0.265;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000493813 GT:AD:DP:GQ:PL 0/1:10,9:19:99:267,0,275
1 228466862 rs3820627 C T 486.14 PASS AB=0.525;AC=1;AF=0.50;AN=2;BaseQRankSum=0.569;DB;DP=40;Dels=0.0;FS=2.78;HRun=1;HaplotypeScore=0.9916;MQ=60.0;MQ0=0;MQRankSum=1.11;QD=12.15;ReadPosRankSum=0.731;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000493813 GT:AD:DP:GQ:PL 0/1:21,19:40:99:516,0,649
1 228467333 rs11581037 C G 42.59 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.29;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000493813 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:74,6,0
1 228468566 rs4653934 A G 172.20 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.466;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9665;MQ=57.87;MQ0=0;MQRankSum=0.143;QD=15.65;ReadPosRankSum=0.825;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479390 GT:AD:DP:GQ:PL 0/1:5,6:11:99:202,0,137
1 228471379 rs56168609 G C 275.82 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.78;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.529;QD=16.22;ReadPosRankSum=-0.048;SNPEFF_AMINO_ACID_CHANGE=R1818;SNPEFF_CODON_CHANGE=cgG/cgC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_228471204_228471470;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000359599 GT:AD:DP:GQ:PL 0/1:8,9:17:99:306,0,248
1 228474817 rs4653935 G A 62.57 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=0.937;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.937;QD=8.94;ReadPosRankSum=-1.754;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366704 GT:AD:DP:GQ:PL 0/1:3,4:7:92.56:93,0,102
1 228474840 rs4653936 G C 75.59 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.406;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.988;QD=12.6;ReadPosRankSum=0.406;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366704 GT:AD:DP:GQ:PL 0/1:3,3:6:96.18:106,0,96
1 228480282 rs1150908 A G 2162.43 PASS AB=0.487;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.068;DB;DP=160;Dels=0.0;FS=4.754;HRun=1;HaplotypeScore=4.2468;MQ=59.57;MQ0=0;MQRankSum=0.516;QD=13.52;ReadPosRankSum=0.568;SNPEFF_AMINO_ACID_CHANGE=T2401;SNPEFF_CODON_CHANGE=acA/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_228480224_228480487;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000359599 GT:AD:DP:GQ:PL 0/1:77,81:160:99:2192,0,2335
1 228480964 rs10158357 A G 526.84 PASS AB=0.393;AC=1;AF=0.50;AN=2;BaseQRankSum=2.07;DB;DP=28;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.17;MQ0=0;MQRankSum=1.505;QD=18.82;ReadPosRankSum=-2.305;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284548 GT:AD:DP:GQ:PL 0/1:11,17:28:99:557,0,316
1 228482028 rs4653547 G C 1533.20 PASS AB=0.567;AC=1;AF=0.50;AN=2;BaseQRankSum=2.051;DB;DP=127;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.85;MQ0=0;MQRankSum=-0.131;QD=12.07;ReadPosRankSum=-1.091;SNPEFF_AMINO_ACID_CHANGE=L2616;SNPEFF_CODON_CHANGE=ctG/ctC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_228481853_228482116;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000359599 GT:AD:DP:GQ:PL 0/1:72,55:127:99:1563,0,2178
1 228482285 rs1150909 T C 337.33 PASS AB=0.421;AC=1;AF=0.50;AN=2;BaseQRankSum=1.197;DB;DP=19;Dels=0.0;FS=1.871;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.206;QD=17.75;ReadPosRankSum=0.206;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284548 GT:AD:DP:GQ:PL 0/1:8,11:19:99:367,0,263
1 228486404 rs56021350 C T 957.70 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=4.132;DB;DP=68;Dels=0.0;FS=6.677;HRun=0;HaplotypeScore=4.3394;MQ=59.66;MQ0=0;MQRankSum=-2.251;QD=14.08;ReadPosRankSum=-1.749;SNPEFF_AMINO_ACID_CHANGE=T1089M;SNPEFF_CODON_CHANGE=aCg/aTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_228486155_228486418;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366707 GT:AD:DP:GQ:PL 0/1:34,34:68:99:988,0,996
1 228491633 rs11584418 G A 1080.99 PASS AB=0.513;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.136;DB;DP=80;Dels=0.0;FS=0.928;HRun=0;HaplotypeScore=0.0;MQ=59.48;MQ0=0;MQRankSum=0.375;QD=13.51;ReadPosRankSum=0.25;SNPEFF_AMINO_ACID_CHANGE=V1356I;SNPEFF_CODON_CHANGE=Gtc/Atc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_228491376_228491639;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366707 GT:AD:DP:GQ:PL 0/1:41,39:80:99:1111,0,1233
1 228494357 rs3795795 C T 295.19 PASS AB=0.438;AC=1;AF=0.50;AN=2;BaseQRankSum=2.858;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.847;QD=18.45;ReadPosRankSum=-0.318;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359599 GT:AD:DP:GQ:PL 0/1:7,9:16:99:325,0,180
1 228494382 rs1150911 T C 101.51 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.825;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.717;QD=8.46;ReadPosRankSum=-1.186;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359599 GT:AD:DP:GQ:PL 0/1:7,5:12:99:132,0,186
1 228494696 rs4653939 G A 53.45 PASS AB=0.769;AC=1;AF=0.50;AN=2;BaseQRankSum=1.775;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.761;QD=4.11;ReadPosRankSum=0.761;SNPEFF_AMINO_ACID_CHANGE=A1126;SNPEFF_CODON_CHANGE=gcG/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_228494602_228494868;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366709 GT:AD:DP:GQ:PL 0/1:10,3:13:83.45:83,0,329
1 228495664 rs419338 T A 75.66 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.537;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.406;QD=12.61;ReadPosRankSum=-0.406;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359599 GT:AD:DP:GQ:PL 0/1:3,3:6:73.63:106,0,74
1 228495696 rs419173 T C 146.64 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=2.359;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.717;QD=12.22;ReadPosRankSum=1.408;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359599 GT:AD:DP:GQ:PL 0/1:7,5:12:99:177,0,211
1 228496014 rs876180 G A 126.23 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.678;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9332;MQ=57.87;MQ0=0;MQRankSum=0.0;QD=11.48;ReadPosRankSum=0.278;SNPEFF_AMINO_ACID_CHANGE=T1342;SNPEFF_CODON_CHANGE=acG/acA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_228495812_228496084;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366709 GT:AD:DP:GQ:PL 0/1:4,7:11:99:156,0,123
1 228497053 rs379620 A G 131.76 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=1.031;DB;DP=11;Dels=0.0;FS=3.424;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.408;QD=11.98;ReadPosRankSum=0.387;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359599 GT:AD:DP:GQ:PL 0/1:5,6:11:99:162,0,174
1 228503677 rs1150912 A G 65.49 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.731;QD=13.1;ReadPosRankSum=-0.731;SNPEFF_AMINO_ACID_CHANGE=H1500R;SNPEFF_CODON_CHANGE=cAc/cGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_228503548_228503820;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366709 GT:AD:DP:GQ:PL 0/1:1,4:5:27.97:95,0,28
1 228504472 rs1188732 T C 98.53 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.365;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9979;MQ=60.0;MQ0=0;MQRankSum=-1.447;QD=9.85;ReadPosRankSum=0.365;SNPEFF_AMINO_ACID_CHANGE=C1569R;SNPEFF_CODON_CHANGE=Tgc/Cgc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_228504410_228504685;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366709 GT:AD:DP:GQ:PL 0/1:6,4:10:99:129,0,139
1 228504591 rs61825301 C A 41.33 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.537;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=6.89;ReadPosRankSum=-0.988;SNPEFF_AMINO_ACID_CHANGE=H1608Q;SNPEFF_CODON_CHANGE=caC/caA;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_228504410_228504685;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366709 GT:AD:DP:GQ:PL 0/1:3,3:6:45.16:71,0,45
1 228504669 rs61825302 G A 69.11 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.937;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.28;MQ0=0;MQRankSum=-0.55;QD=9.87;ReadPosRankSum=0.55;SNPEFF_AMINO_ACID_CHANGE=A1634;SNPEFF_CODON_CHANGE=gcG/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_228504410_228504685;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366709 GT:AD:DP:GQ:PL 0/1:3,4:7:99:99,0,101
1 228505204 rs4653942 G A 224.27 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.921;DB;DP=25;Dels=0.0;FS=3.821;HRun=0;HaplotypeScore=0.8941;MQ=59.07;MQ0=0;MQRankSum=-2.488;QD=8.97;ReadPosRankSum=0.472;SNPEFF_AMINO_ACID_CHANGE=R1653H;SNPEFF_CODON_CHANGE=cGc/cAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_228505165_228505452;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366709 GT:AD:DP:GQ:PL 0/1:15,10:25:99:254,0,417
1 228505668 rs1188729 C G 518.37 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.825;DB;DP=44;Dels=0.0;FS=15.791;HRun=0;HaplotypeScore=0.0;MQ=58.41;MQ0=0;MQRankSum=-0.012;QD=11.78;ReadPosRankSum=-0.819;SNPEFF_AMINO_ACID_CHANGE=S1761C;SNPEFF_CODON_CHANGE=tCt/tGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_228505593_228505874;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366709 GT:AD:DP:GQ:PL 0/1:24,20:44:99:548,0,775
1 228505699 rs1188728 T C 604.26 PASS AB=0.509;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.284;DB;DP=54;Dels=0.0;FS=11.681;HRun=0;HaplotypeScore=2.1904;MQ=59.14;MQ0=0;MQRankSum=-0.759;QD=11.19;ReadPosRankSum=1.254;SNPEFF_AMINO_ACID_CHANGE=G1771;SNPEFF_CODON_CHANGE=ggT/ggC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_228505593_228505874;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366709 GT:AD:DP:GQ:PL 0/1:27,26:54:99:634,0,612
1 228505739 rs3795801 G A 799.97 PASS AB=0.418;AC=1;AF=0.50;AN=2;BaseQRankSum=0.626;DB;DP=56;Dels=0.0;FS=2.522;HRun=0;HaplotypeScore=1.7803;MQ=58.76;MQ0=0;MQRankSum=0.184;QD=14.29;ReadPosRankSum=-1.05;SNPEFF_AMINO_ACID_CHANGE=G1785S;SNPEFF_CODON_CHANGE=Ggt/Agt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_228505593_228505874;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366709 GT:AD:DP:GQ:PL 0/1:23,32:56:99:830,0,665
1 228509427 rs373610 A G 1040.88 PASS AB=0.424;AC=1;AF=0.50;AN=2;BaseQRankSum=2.6;DB;DP=60;Dels=0.0;FS=9.379;HRun=2;HaplotypeScore=2.4673;MQ=59.3;MQ0=0;MQRankSum=-1.112;QD=17.35;ReadPosRankSum=-0.514;SNPEFF_AMINO_ACID_CHANGE=D2081G;SNPEFF_CODON_CHANGE=gAc/gGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_228509045_228509915;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366709 GT:AD:DP:GQ:PL 0/1:25,34:60:99:1071,0,766
1 228523447 rs10799473 T C 799.43 PASS AB=0.442;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.145;DB;DP=52;Dels=0.0;FS=1.227;HRun=1;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=-1.505;QD=15.37;ReadPosRankSum=-0.199;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284548 GT:AD:DP:GQ:PL 0/1:23,29:52:99:829,0,705
1 228524642 rs56063628 T C 81.97 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=20.49;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284548 GT:AD:DP:GQ:PL 0/1:1,3:4:27.27:112,0,27
1 228526011 rs11577699 C T 96.03 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=1.307;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.39;MQ0=0;MQRankSum=0.361;QD=10.67;ReadPosRankSum=-0.729;SNPEFF_AMINO_ACID_CHANGE=A2793;SNPEFF_CODON_CHANGE=gcC/gcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_228525991_228526073;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366709 GT:AD:DP:GQ:PL 0/1:5,4:9:99:126,0,164
1 228527844 rs11588701 T G 212.81 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=2.025;DB;DP=15;Dels=0.0;FS=3.31;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.521;QD=14.19;ReadPosRankSum=0.637;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284548 GT:AD:DP:GQ:PL 0/1:8,7:15:99:243,0,249
1 228529097 . C T 297.57 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=0.636;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.636;QD=21.26;ReadPosRankSum=0.212;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284548 GT:AD:DP:GQ:PL 0/1:4,10:14:99:328,0,116
1 228538829 rs11581897 C T 50.30 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=16.77;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284548 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:82,6,0
1 228547901 rs12035900 C T 166.89 PASS AB=0.611;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=18;Dels=0.0;FS=4.752;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.091;QD=9.27;ReadPosRankSum=0.0;SNPEFF_AMINO_ACID_CHANGE=D3555;SNPEFF_CODON_CHANGE=gaC/gaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_228547298_228548456;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366709 GT:AD:DP:GQ:PL 0/1:11,7:18:99:197,0,356
1 228550429 rs11585049 C T 50.20 PASS AB=0.769;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.254;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.592;QD=3.86;ReadPosRankSum=0.085;SNPEFF_AMINO_ACID_CHANGE=P3906S;SNPEFF_CODON_CHANGE=Cca/Tca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_228550277_228550456;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366707 GT:AD:DP:GQ:PL 0/1:10,3:13:80.19:80,0,325
1 228556788 rs3738685 C T 410.03 PASS AB=0.44;AC=1;AF=0.50;AN=2;BaseQRankSum=1.068;DB;DP=25;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.998;QD=16.4;ReadPosRankSum=0.027;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366707 GT:AD:DP:GQ:PL 0/1:11,14:25:99:440,0,306
1 228560139 rs498382 A G 303.77 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.37;SNPEFF_AMINO_ACID_CHANGE=S4854;SNPEFF_CODON_CHANGE=tcA/tcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_228558724_228560782;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366707 GT:AD:DP:GQ:PL 1/1:0,13:13:27.07:337,27,0
1 228560700 rs512253 T C 82.70 PASS AB=0.72;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.635;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.2;MQ0=0;MQRankSum=-0.878;QD=3.31;ReadPosRankSum=-0.212;SNPEFF_AMINO_ACID_CHANGE=D5041;SNPEFF_CODON_CHANGE=gaT/gaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_228558724_228560782;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366707 GT:AD:DP:GQ:PL 0/1:18,7:25:99:113,0,635
1 228560990 rs579897 G A 79.27 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.727;QD=19.82;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OBSCN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366707 GT:AD:DP:GQ:PL 0/1:1,3:4:29.72:109,0,30
1 228596304 . C T 615.83 PASS AB=0.389;AC=1;AF=0.50;AN=2;BaseQRankSum=1.022;DP=36;Dels=0.0;FS=1.348;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.769;QD=17.11;ReadPosRankSum=1.249;SNPEFF_AMINO_ACID_CHANGE=T344;SNPEFF_CODON_CHANGE=acG/acA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_228595737_228596452;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRIM17;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000295033 GT:AD:DP:GQ:PL 0/1:14,22:36:99:646,0,420
1 228612444 rs1188473 A G 106.49 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.62;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HIST3H3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366696 GT:AD:DP:GQ:PL 1/1:0,4:4:12.03:139,12,0
1 228612838 rs2230656 G T 2642.66 PASS AC=2;AF=1.00;AN=2;DB;DP=81;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=59.43;MQ0=0;QD=32.63;SNPEFF_AMINO_ACID_CHANGE=I63;SNPEFF_CODON_CHANGE=atC/atA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_228612546_228613026;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HIST3H3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366696 GT:AD:DP:GQ:PL 1/1:0,81:81:99:2676,205,0
1 228613052 rs1188474 T C 386.92 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=52.32;MQ0=0;QD=24.18;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HIST3H3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366696 GT:AD:DP:GQ:PL 1/1:0,16:16:36.06:420,36,0
1 228645063 rs10916317 A G 728.40 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.99;MQ0=0;QD=34.69;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HIST3H2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366695 GT:AD:DP:GQ:PL 1/1:0,21:21:60.17:761,60,0
1 228681749 rs3795817 C T 126.60 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.65;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RNF187;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463833 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:159,12,0
1 228699477 rs6665115 T C 1481.53 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.49;MQ0=0;QD=32.92;SNPEFF_AMINO_ACID_CHANGE=H105R;SNPEFF_CODON_CHANGE=cAc/cGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_228699352_228699705;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RP5-915N17.9;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000400948 GT:AD:DP:GQ:PL 1/1:0,45:45:99:1515,114,0
1 228871693 rs3738073 C T 32.46 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.495;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.636;QD=2.32;ReadPosRankSum=-1.061;SNPEFF_AMINO_ACID_CHANGE=S68;SNPEFF_CODON_CHANGE=agC/agT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_228870824_228871751;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RHOU;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366691 GT:AD:DP:GQ:PL 0/1:10,4:14:62.45:62,0,275
1 228878835 rs12402303 T C 111.91 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.922;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.368;QD=13.99;ReadPosRankSum=0.421;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RHOU;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366691 GT:AD:DP:GQ:PL 0/1:4,4:8:99:142,0,134
1 228878871 rs41270187 T C 433.20 PASS AB=0.391;AC=1;AF=0.50;AN=2;BaseQRankSum=1.039;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.661;QD=18.83;ReadPosRankSum=0.409;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RHOU;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366691 GT:AD:DP:GQ:PL 0/1:9,14:23:99:463,0,290
1 228878888 rs41270189 C T 619.73 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.18;DB;DP=30;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.106;QD=20.66;ReadPosRankSum=0.402;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RHOU;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366691 GT:AD:DP:GQ:PL 0/1:12,18:30:99:650,0,409
1 229177946 . A C 160.56 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.583;QD=13.38;ReadPosRankSum=1.191;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=ISCA1P2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000438679 GT:AD:DP:GQ:PL 0/1:6,6:12:99:191,0,204
1 229178058 rs4654640 C T 977.11 PASS AB=0.59;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.336;DB;DP=78;Dels=0.0;FS=3.939;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.976;QD=12.53;ReadPosRankSum=0.097;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=ISCA1P2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000438679 GT:AD:DP:GQ:PL 0/1:46,32:78:99:1007,0,1397
1 229178412 rs610558 G A 381.48 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=0.892;DB;DP=43;Dels=0.0;FS=1.394;HRun=0;HaplotypeScore=1.4679;MQ=58.92;MQ0=0;MQRankSum=-0.577;QD=8.87;ReadPosRankSum=-0.131;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=ISCA1P2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000438679 GT:AD:DP:GQ:PL 0/1:27,15:43:99:411,0,921
1 229385256 rs6695100 G A 113.81 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=1.92;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.221;QD=14.23;ReadPosRankSum=-0.322;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM78;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000323223 GT:AD:DP:GQ:PL 0/1:3,5:8:89.02:144,0,89
1 229422193 rs237764 T C 701.89 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.42;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=RAB4A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366690 GT:AD:DP:GQ:PL 1/1:0,21:21:54.15:735,54,0
1 229434998 rs237778 A G 47.50 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.75;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=RAB4A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366690 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
1 229438828 rs237787 G A 518.14 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.01;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=RAB4A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366690 GT:AD:DP:GQ:PL 1/1:0,14:14:42.14:551,42,0
1 229461024 rs2282083 C T 2632.29 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.551;DB;DP=79;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9933;MQ=59.71;MQ0=0;MQRankSum=-1.09;QD=33.32;ReadPosRankSum=-0.731;SNPEFF_AMINO_ACID_CHANGE=P143;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_229457262_229461158;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf96;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366686 GT:AD:DP:GQ:PL 1/1:3,76:79:91:2665,91,0
1 229580476 rs484940 T C 45.87 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.727;QD=11.47;ReadPosRankSum=-0.727;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NUP133;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485119 GT:AD:DP:GQ:PL 1/1:1,3:4:6.02:77,6,0
1 229663064 rs113712941 GAGGAA G 3681.51 PASS AC=2;AF=1.00;AN=2;DB;DP=81;FS=0.0;HRun=0;HaplotypeScore=475.1291;IndelType=D;MQ=51.88;MQ0=1;QD=44.9;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCB10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344517 GT:AD:DP:GQ:PL 1/1:18,64:81:99:3682,193,0
1 229730452 rs2295625 G A 1663.98 PASS AB=0.466;AC=1;AF=0.50;AN=2;BaseQRankSum=3.585;DB;DP=103;Dels=0.0;FS=2.75;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=1.576;QD=16.16;ReadPosRankSum=0.841;SNPEFF_AMINO_ACID_CHANGE=S454;SNPEFF_CODON_CHANGE=agC/agT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_229728868_229730841;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAF5L;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000258281 GT:AD:DP:GQ:PL 0/1:48,55:103:99:1694,0,1258
1 229738170 rs3753886 T G 755.20 PASS AB=0.528;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.882;DB;DP=53;Dels=0.0;FS=3.854;HRun=0;HaplotypeScore=0.0;MQ=59.56;MQ0=0;MQRankSum=-0.65;QD=14.25;ReadPosRankSum=0.33;SNPEFF_AMINO_ACID_CHANGE=R248;SNPEFF_CODON_CHANGE=cgA/cgC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_229737942_229738666;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAF5L;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000258281 GT:AD:DP:GQ:PL 0/1:28,25:53:99:785,0,842
1 229738236 rs4925500 G A 478.99 PASS AB=0.574;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.166;DB;DP=47;Dels=0.0;FS=4.375;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.877;QD=10.19;ReadPosRankSum=0.237;SNPEFF_AMINO_ACID_CHANGE=P226;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_229737942_229738666;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAF5L;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000258281 GT:AD:DP:GQ:PL 0/1:27,20:47:99:509,0,734
1 229746019 rs2273573 C T 177.76 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.339;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.545;QD=12.7;ReadPosRankSum=0.299;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAF5L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366674 GT:AD:DP:GQ:PL 0/1:7,7:14:99:208,0,181
1 229749804 rs12073055 C T 42.74 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=14.25;ReadPosRankSum=-0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAF5L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366674 GT:AD:DP:GQ:PL 0/1:1,2:3:33.20:73,0,33
1 229750343 rs2273574 T G 289.04 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.648;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-2.062;QD=19.27;ReadPosRankSum=-0.884;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAF5L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258281 GT:AD:DP:GQ:PL 0/1:6,9:15:99:319,0,203
1 229768297 rs1473719 C T 144.69 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.47;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.676;QD=14.47;ReadPosRankSum=0.47;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=URB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258243 GT:AD:DP:GQ:PL 0/1:5,5:10:99:175,0,174
1 229772693 rs3811473 T G 781.82 PASS AB=0.614;AC=1;AF=0.50;AN=2;BaseQRankSum=3.264;DB;DP=70;Dels=0.0;FS=2.026;HRun=1;HaplotypeScore=0.9992;MQ=59.73;MQ0=0;MQRankSum=-0.842;QD=11.17;ReadPosRankSum=-0.178;SNPEFF_AMINO_ACID_CHANGE=V778G;SNPEFF_CODON_CHANGE=gTc/gGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_229770664_229773994;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=URB2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000258243 GT:AD:DP:GQ:PL 0/1:43,27:70:99:812,0,1446
1 229781532 rs881694 T G 643.12 PASS AB=0.489;AC=1;AF=0.50;AN=2;BaseQRankSum=0.552;DB;DP=45;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.49;MQ0=0;MQRankSum=-0.2;QD=14.29;ReadPosRankSum=1.42;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=URB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258243 GT:AD:DP:GQ:PL 0/1:22,23:45:99:673,0,647
1 229781744 rs2274994 T C 669.04 PASS AB=0.477;AC=1;AF=0.50;AN=2;BaseQRankSum=2.179;DB;DP=44;Dels=0.0;FS=3.093;HRun=1;HaplotypeScore=0.0;MQ=59.05;MQ0=0;MQRankSum=0.158;QD=15.21;ReadPosRankSum=-0.913;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=URB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258243 GT:AD:DP:GQ:PL 0/1:21,23:44:99:699,0,618
1 229783236 rs6587349 T C 1341.23 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.48;MQ0=0;QD=30.48;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=URB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258243 GT:AD:DP:GQ:PL 1/1:0,44:44:99:1374,105,0
1 229783240 rs2274995 T C 556.82 PASS AB=0.476;AC=1;AF=0.50;AN=2;BaseQRankSum=1.121;DB;DP=42;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.45;MQ0=0;MQRankSum=0.113;QD=13.26;ReadPosRankSum=0.214;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=URB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258243 GT:AD:DP:GQ:PL 0/1:20,22:42:99:587,0,624
1 229790048 rs7521953 A G 960.85 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.383;DB;DP=66;Dels=0.0;FS=3.468;HRun=1;HaplotypeScore=2.9861;MQ=60.0;MQ0=0;MQRankSum=-0.866;QD=14.56;ReadPosRankSum=-0.302;SNPEFF_AMINO_ACID_CHANGE=R1430;SNPEFF_CODON_CHANGE=agA/agG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_229789996_229790135;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=URB2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000258243 GT:AD:DP:GQ:PL 0/1:33,33:66:99:991,0,981
1 229795070 rs1048306 T G 851.52 PASS AB=0.531;AC=1;AF=0.50;AN=2;BaseQRankSum=2.062;DB;DP=64;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8941;MQ=59.35;MQ0=0;MQRankSum=0.31;QD=13.3;ReadPosRankSum=0.255;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=URB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000434387 GT:AD:DP:GQ:PL 0/1:34,30:64:99:882,0,1105
1 230461079 rs2306813 G A 954.84 PASS AB=0.614;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.127;DB;DP=88;Dels=0.0;FS=4.656;HRun=0;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=-0.231;QD=10.85;ReadPosRankSum=0.222;SNPEFF_AMINO_ACID_CHANGE=C337;SNPEFF_CODON_CHANGE=tgC/tgT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_230461056_230461161;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PGBD5;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000391860 GT:AD:DP:GQ:PL 0/1:54,34:88:99:985,0,1816
1 230473103 rs10864744 A C 207.06 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.51;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PGBD5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000321327 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:240,18,0
1 230497940 rs828479 G T 106.32 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.067;DB;DP=14;Dels=0.0;FS=2.963;HRun=1;HaplotypeScore=0.0;MQ=58.33;MQ0=0;MQRankSum=-0.4;QD=7.59;ReadPosRankSum=-1.067;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PGBD5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000321327 GT:AD:DP:GQ:PL 0/1:9,5:14:99:136,0,327
1 230498232 rs2820384 C T 38.13 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=12.71;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PGBD5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000321327 GT:AD:DP:GQ:PL 0/1:1,2:3:31.62:68,0,32
1 230503684 rs2632571 C T 74.40 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.447;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9789;MQ=60.0;MQ0=0;MQRankSum=-0.365;QD=6.2;ReadPosRankSum=1.036;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PGBD5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000321327 GT:AD:DP:GQ:PL 0/1:8,4:12:99:104,0,206
1 230504070 rs2820377 C G 35.86 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=8.97;ReadPosRankSum=1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PGBD5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000321327 GT:AD:DP:GQ:PL 0/1:2,2:4:54.57:66,0,55
1 230513128 rs828463 G A 186.38 PASS AB=0.143;AC=1;AF=0.50;AN=2;BaseQRankSum=0.742;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.742;QD=26.63;ReadPosRankSum=-0.742;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PGBD5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000321327 GT:AD:DP:GQ:PL 0/1:1,6:7:16.73:216,0,17
1 230795177 rs1359866 T C 398.67 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.219;DB;DP=36;Dels=0.0;FS=8.602;HRun=1;HaplotypeScore=0.9933;MQ=58.83;MQ0=0;MQRankSum=0.866;QD=11.07;ReadPosRankSum=-0.642;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=COG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366668 GT:AD:DP:GQ:PL 0/1:21,15:36:99:429,0,741
1 230796375 rs3736982 A C 366.42 PASS AB=0.35;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.675;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9983;MQ=58.84;MQ0=0;MQRankSum=0.219;QD=18.32;ReadPosRankSum=-2.061;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=COG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366668 GT:AD:DP:GQ:PL 0/1:7,13:20:99:396,0,204
1 230819295 rs5781596 ATTC A 790.17 PASS AB=0.682;AC=1;AF=0.50;AN=2;BaseQRankSum=5.169;DB;DP=45;FS=0.0;HRun=0;HaplotypeScore=192.5742;IndelType=D;MQ=57.61;MQ0=0;MQRankSum=0.211;QD=17.56;ReadPosRankSum=0.799;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=COG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000494371 GT:AD:DP:GQ:PL 0/1:24,21:45:99:829,0,1327
1 230819479 rs11440664 G GT 433.50 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.441;DB;DP=21;FS=0.0;HRun=12;HaplotypeScore=100.5047;IndelType=I;MQ=56.55;MQ0=0;MQRankSum=-0.567;QD=20.64;ReadPosRankSum=-1.323;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=COG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000494371 GT:AD:DP:GQ:PL 1/1:3,18:21:16.26:475,16,0
1 230820605 rs2296797 G T 38.83 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=12.94;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=COG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000494371 GT:AD:DP:GQ:PL 0/1:1,2:3:17.66:69,0,18
1 230820763 . C CACATT 983.43 PASS AB=0.711;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.422;DP=32;FS=0.0;HRun=0;HaplotypeScore=136.9978;IndelType=I;MQ=57.01;MQ0=0;MQRankSum=0.62;QD=30.73;ReadPosRankSum=-0.42;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=COG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000494371 GT:AD:DP:GQ:PL 0/1:19,11:32:99:1022,0,988
1 230822607 rs1536591 G A 230.46 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=2.637;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-2.18;QD=19.21;ReadPosRankSum=0.289;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=COG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000494371 GT:AD:DP:GQ:PL 0/1:4,8:12:99:260,0,112
1 230823040 rs1536590 C T 46.65 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.32;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=COG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000494371 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:78,6,0
1 230825942 rs3000064 A G 832.25 PASS AB=0.49;AC=1;AF=0.50;AN=2;BaseQRankSum=1.475;DB;DP=51;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.55;MQ0=0;MQRankSum=0.64;QD=16.32;ReadPosRankSum=1.863;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=COG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000482012 GT:AD:DP:GQ:PL 0/1:25,26:51:99:862,0,839
1 230828987 rs2478534 C A 205.30 PASS AB=0.613;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.521;DB;DP=31;Dels=0.0;FS=5.775;HRun=1;HaplotypeScore=1.9913;MQ=60.0;MQ0=0;MQRankSum=0.101;QD=6.62;ReadPosRankSum=-0.75;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=COG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478710 GT:AD:DP:GQ:PL 0/1:19,12:31:99:235,0,632
1 230829139 rs1051038 A G 788.46 PASS AB=0.438;AC=1;AF=0.50;AN=2;BaseQRankSum=1.039;DB;DP=48;Dels=0.0;FS=1.372;HRun=1;HaplotypeScore=0.0;MQ=59.52;MQ0=0;MQRankSum=-0.145;QD=16.43;ReadPosRankSum=0.125;SNPEFF_AMINO_ACID_CHANGE=*428;SNPEFF_CODON_CHANGE=taA/taG;SNPEFF_EFFECT=SYNONYMOUS_STOP;SNPEFF_EXON_ID=exon_1_230829038_230829200;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=COG2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000546013 GT:AD:DP:GQ:PL 0/1:21,27:48:99:818,0,638
1 230840096 rs1926723 T C 35.31 QDFilter2 AB=0.81;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.567;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.224;QD=1.68;ReadPosRankSum=1.12;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366667 GT:AD:DP:GQ:PL 0/1:17,4:21:65.30:65,0,560
1 230841687 rs7080 T C 2912.64 PASS AC=2;AF=1.00;AN=2;DB;DP=91;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.4679;MQ=60.0;MQ0=0;QD=32.01;SNPEFF_AMINO_ACID_CHANGE=L290;SNPEFF_CODON_CHANGE=ctA/ctG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_230841679_230841946;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGT;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000430091 GT:AD:DP:GQ:PL 1/1:0,90:91:99:2946,220,0
1 230845794 rs699 A G 1361.96 PASS AB=0.427;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.838;DB;DP=104;Dels=0.0;FS=4.137;HRun=0;HaplotypeScore=2.5566;MQ=59.33;MQ0=0;MQRankSum=-1.195;QD=13.1;ReadPosRankSum=-0.443;SNPEFF_AMINO_ACID_CHANGE=M186T;SNPEFF_CODON_CHANGE=aTg/aCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_230845741_230845863;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGT;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000430091 GT:AD:DP:GQ:PL 0/1:44,59:104:99:1392,0,1141
1 230846679 rs11122576 T C 127.55 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.551;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.184;QD=8.5;ReadPosRankSum=0.184;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366667 GT:AD:DP:GQ:PL 0/1:10,5:15:99:158,0,331
1 230883466 rs12143120 C T 289.04 PASS AB=0.474;AC=1;AF=0.50;AN=2;BaseQRankSum=1.021;DB;DP=19;Dels=0.0;FS=5.614;HRun=0;HaplotypeScore=0.0;MQ=58.78;MQ0=0;MQRankSum=0.612;QD=15.21;ReadPosRankSum=0.694;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAPN9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271971 GT:AD:DP:GQ:PL 0/1:9,10:19:99:319,0,224
1 230883484 rs6690251 T C 267.10 PASS AB=0.308;AC=1;AF=0.50;AN=2;BaseQRankSum=1.157;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.694;QD=20.55;ReadPosRankSum=0.386;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAPN9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271971 GT:AD:DP:GQ:PL 0/1:4,9:13:99:297,0,117
1 230883499 rs6690254 T C 243.14 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.468;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.825;QD=20.26;ReadPosRankSum=0.289;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAPN9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271971 GT:AD:DP:GQ:PL 0/1:4,8:12:99:273,0,129
1 230891248 rs2493145 C T 375.73 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.87;MQ0=0;QD=34.16;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAPN9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271971 GT:AD:DP:GQ:PL 1/1:0,11:11:30.10:409,30,0
1 230891333 rs2493146 C T 179.01 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.84;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAPN9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271971 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:212,15,0
1 230898231 rs2282318 T A 37.95 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.231;QD=7.59;ReadPosRankSum=1.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAPN9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271971 GT:AD:DP:GQ:PL 0/1:3,2:5:67.94:68,0,99
1 230898494 rs2282319 C T 575.61 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=2.437;DB;DP=39;Dels=0.0;FS=1.392;HRun=0;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=-0.408;QD=14.76;ReadPosRankSum=1.423;SNPEFF_AMINO_ACID_CHANGE=N103;SNPEFF_CODON_CHANGE=aaC/aaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_230898399_230898532;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAPN9;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366666 GT:AD:DP:GQ:PL 0/1:21,18:39:99:606,0,594
1 230903234 rs11122590 A G 181.80 PASS AB=0.69;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.559;DB;DP=29;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.448;QD=6.27;ReadPosRankSum=-1.721;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAPN9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271971 GT:AD:DP:GQ:PL 0/1:20,9:29:99:212,0,690
1 230903350 rs3828126 T C 1151.26 PASS AB=0.575;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.954;DB;DP=113;Dels=0.0;FS=1.617;HRun=1;HaplotypeScore=1.7335;MQ=59.8;MQ0=0;MQRankSum=-1.529;QD=10.19;ReadPosRankSum=-0.216;SNPEFF_AMINO_ACID_CHANGE=T137;SNPEFF_CODON_CHANGE=acT/acC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_230903287_230903455;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAPN9;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366666 GT:AD:DP:GQ:PL 0/1:65,48:113:99:1181,0,1983
1 230904911 rs11122593 C T 577.71 PASS AB=0.463;AC=1;AF=0.50;AN=2;BaseQRankSum=2.758;DB;DP=41;Dels=0.0;FS=2.807;HRun=3;HaplotypeScore=0.0;MQ=59.44;MQ0=0;MQRankSum=0.484;QD=14.09;ReadPosRankSum=-0.327;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAPN9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271971 GT:AD:DP:GQ:PL 0/1:19,22:41:99:608,0,623
1 230910339 rs7517389 G A 605.75 PASS AB=0.52;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.17;DB;DP=50;Dels=0.0;FS=2.45;HRun=2;HaplotypeScore=1.7753;MQ=54.8;MQ0=0;MQRankSum=1.412;QD=12.11;ReadPosRankSum=1.793;SNPEFF_AMINO_ACID_CHANGE=K242;SNPEFF_CODON_CHANGE=aaG/aaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_230910300_230910377;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAPN9;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366666 GT:AD:DP:GQ:PL 0/1:26,24:50:99:636,0,647
1 230914612 rs12130847 A G 120.97 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.956;DB;DP=8;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.322;QD=15.12;ReadPosRankSum=0.322;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAPN9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271971 GT:AD:DP:GQ:PL 0/1:3,5:8:92.88:151,0,93
1 230922001 rs11122602 G C 115.93 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=0.937;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.55;QD=16.56;ReadPosRankSum=1.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAPN9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271971 GT:AD:DP:GQ:PL 0/1:3,4:7:88.86:146,0,89
1 230927353 rs6671302 T A 44.66 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.33;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAPN9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271971 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:76,6,0
1 230928512 rs7522057 C G 818.43 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=59.17;MQ0=0;QD=29.23;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAPN9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271971 GT:AD:DP:GQ:PL 1/1:0,28:28:78.18:851,78,0
1 230931020 . C G 33.01 QDFilter2 AB=0.176;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.495;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.997;MQ=49.64;MQ0=0;MQRankSum=0.198;QD=1.94;ReadPosRankSum=1.495;SNPEFF_AMINO_ACID_CHANGE=A598G;SNPEFF_CODON_CHANGE=gCg/gGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_230930909_230931025;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAPN9;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366666 GT:AD:DP:GQ:PL 0/1:3,14:17:52.78:63,0,53
1 230975454 rs1202550 A G 117.72 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.43;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf198;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000519360 GT:AD:DP:GQ:PL 1/1:0,4:4:12.03:150,12,0
1 231042732 rs3811502 T A 1206.30 PASS AB=0.544;AC=1;AF=0.50;AN=2;BaseQRankSum=2.358;DB;DP=90;Dels=0.0;FS=0.868;HRun=1;HaplotypeScore=0.9997;MQ=60.0;MQ0=0;MQRankSum=-0.591;QD=13.4;ReadPosRankSum=-0.097;SNPEFF_AMINO_ACID_CHANGE=V780;SNPEFF_CODON_CHANGE=gtA/gtT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_231041989_231042765;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC13;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366662 GT:AD:DP:GQ:PL 0/1:49,41:90:99:1236,0,1527
1 231047310 rs140027784 TAC T 575.57 PASS AB=0.691;AC=1;AF=0.50;AN=2;BaseQRankSum=4.675;DB;DP=37;FS=5.951;HRun=0;HaplotypeScore=118.3504;IndelType=D;MQ=59.0;MQ0=1;MQRankSum=-0.69;QD=15.15;ReadPosRankSum=1.701;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366661 GT:AD:DP:GQ:PL 0/1:21,17:37:99:615,0,1078
1 231047392 rs2153049 G A 170.06 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.38;DB;DP=12;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=-0.529;QD=14.17;ReadPosRankSum=1.461;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366661 GT:AD:DP:GQ:PL 0/1:5,7:12:99:200,0,174
1 231052183 rs7537655 G T 64.84 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.62;MQ0=0;MQRankSum=-0.937;QD=9.26;ReadPosRankSum=-1.754;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000486879 GT:AD:DP:GQ:PL 0/1:4,3:7:94.83:95,0,131
1 231057310 rs2275334 C T 198.53 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.951;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.521;QD=13.24;ReadPosRankSum=-2.488;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366661 GT:AD:DP:GQ:PL 0/1:8,7:15:99:229,0,290
1 231059784 rs3748774 C T 263.27 PASS AB=0.273;AC=1;AF=0.50;AN=2;BaseQRankSum=0.382;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.106;QD=23.93;ReadPosRankSum=-0.382;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366661 GT:AD:DP:GQ:PL 0/1:3,8:11:85.67:293,0,86
1 231060736 rs3748775 T C 1062.68 PASS AB=0.513;AC=1;AF=0.50;AN=2;BaseQRankSum=0.693;DB;DP=80;Dels=0.0;FS=0.987;HRun=1;HaplotypeScore=1.6988;MQ=59.71;MQ0=0;MQRankSum=-1.28;QD=13.28;ReadPosRankSum=1.011;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366661 GT:AD:DP:GQ:PL 0/1:41,39:80:99:1093,0,1255
1 231061564 rs4240944 A C 72.57 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.55;QD=10.37;ReadPosRankSum=-0.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366661 GT:AD:DP:GQ:PL 0/1:4,3:7:99:103,0,145
1 231064578 rs5781609 T TCTC 247.43 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.92;DB;DP=9;FS=0.0;HRun=0;HaplotypeScore=62.2979;IndelType=I;MQ=50.18;MQ0=0;MQRankSum=-0.956;QD=27.49;ReadPosRankSum=0.322;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481976 GT:AD:DP:GQ:PL 0/1:3,5:9:99:286,0,114
1 231064611 rs950029 G A 274.43 PASS AB=0.458;AC=1;AF=0.50;AN=2;BaseQRankSum=2.26;DB;DP=24;Dels=0.0;FS=2.395;HRun=0;HaplotypeScore=0.8941;MQ=55.69;MQ0=0;MQRankSum=-1.101;QD=11.43;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481976 GT:AD:DP:GQ:PL 0/1:11,13:24:99:304,0,298
1 231067236 rs11122624 C T 758.92 PASS AB=0.431;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.585;DB;DP=51;Dels=0.0;FS=1.378;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.181;QD=14.88;ReadPosRankSum=-0.01;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000519379 GT:AD:DP:GQ:PL 0/1:22,29:51:99:789,0,702
1 231067318 rs11122625 G T 338.48 PASS AB=0.522;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.394;DB;DP=23;Dels=0.0;FS=4.419;HRun=0;HaplotypeScore=0.9578;MQ=60.0;MQ0=0;MQRankSum=-0.657;QD=14.72;ReadPosRankSum=0.131;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000519379 GT:AD:DP:GQ:PL 0/1:12,11:23:99:368,0,373
1 231069652 rs1890351 A C 464.38 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=1.392;DB;DP=33;Dels=0.0;FS=3.11;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.054;QD=14.07;ReadPosRankSum=-0.85;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366661 GT:AD:DP:GQ:PL 0/1:18,15:33:99:494,0,595
1 231075322 . GA G 72.79 PASS AB=0.722;AC=1;AF=0.50;AN=2;BaseQRankSum=0.825;DP=13;FS=0.0;HRun=8;HaplotypeScore=30.7597;IndelType=D;MQ=60.0;MQ0=0;MQRankSum=0.825;QD=5.6;ReadPosRankSum=1.031;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466507 GT:AD:DP:GQ:PL 0/1:8,5:13:99:112,0,184
1 231079381 rs6541239 A G 338.20 PASS AB=0.154;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.678;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.283;QD=26.02;ReadPosRankSum=-2.073;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366661 GT:AD:DP:GQ:PL 0/1:2,11:13:48.76:368,0,49
1 231081304 rs6673085 T G 157.34 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=1.526;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.361;QD=7.87;ReadPosRankSum=0.454;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366661 GT:AD:DP:GQ:PL 0/1:14,6:20:99:187,0,476
1 231124055 rs10779804 T C 2799.30 PASS AB=0.451;AC=1;AF=0.50;AN=2;BaseQRankSum=5.996;DB;DP=164;Dels=0.0;FS=2.146;HRun=0;HaplotypeScore=1.997;MQ=60.0;MQ0=0;MQRankSum=-0.994;QD=17.07;ReadPosRankSum=-0.546;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ARV1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310256 GT:AD:DP:GQ:PL 0/1:74,90:164:99:2829,0,2164
1 231126172 rs10864648 T G 100.18 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9469;MQ=60.0;MQ0=0;MQRankSum=-0.72;QD=16.7;ReadPosRankSum=0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ARV1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310256 GT:AD:DP:GQ:PL 0/1:2,4:6:65.94:130,0,66
1 231336946 rs57632781 G A 112.51 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.72;QD=18.75;ReadPosRankSum=-1.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRIM67;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366652 GT:AD:DP:GQ:PL 0/1:2,4:6:64.59:142,0,65
1 231339713 rs11806609 C T 251.45 PASS AB=0.654;AC=1;AF=0.50;AN=2;BaseQRankSum=2.048;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.431;QD=9.67;ReadPosRankSum=2.048;SNPEFF_AMINO_ACID_CHANGE=D483;SNPEFF_CODON_CHANGE=gaC/gaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_231339613_231339758;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRIM67;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000449018 GT:AD:DP:GQ:PL 0/1:17,9:26:99:281,0,443
1 231344589 rs75728373 C T 326.55 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.386;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.97;MQ0=0;MQRankSum=0.026;QD=12.09;ReadPosRankSum=0.643;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRIM67;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366652 GT:AD:DP:GQ:PL 0/1:15,12:27:99:357,0,506
1 231344908 rs114415891 A G 1055.50 PASS AB=0.396;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.009;DB;DP=53;Dels=0.0;FS=2.764;HRun=0;HaplotypeScore=1.6208;MQ=60.0;MQ0=0;MQRankSum=0.95;QD=19.92;ReadPosRankSum=0.141;SNPEFF_AMINO_ACID_CHANGE=M617V;SNPEFF_CODON_CHANGE=Atg/Gtg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_231344693_231344996;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRIM67;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000449018 GT:AD:DP:GQ:PL 0/1:21,32:53:99:1085,0,573
1 231377081 rs518686 C T 2026.06 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.2;MQ0=0;QD=34.93;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf131;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318906 GT:AD:DP:GQ:PL 1/1:0,58:58:99:2059,165,0
1 231386612 rs508908 T A 467.64 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.97;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GNPAT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366646 GT:AD:DP:GQ:PL 1/1:0,13:13:39.13:501,39,0
1 231396116 rs3215759 T TTA 884.93 PASS AC=2;AF=1.00;AN=2;DB;DP=16;FS=0.0;HRun=0;HaplotypeScore=41.9419;IndelType=I;MQ=58.55;MQ0=0;QD=55.31;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GNPAT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366646 GT:AD:DP:GQ:PL 1/1:0,16:16:48.16:927,48,0
1 231396634 rs531592 T C 40.91 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.45;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GNPAT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366646 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:72,6,0
1 231400905 rs849714 A G 169.64 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.93;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GNPAT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366646 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:202,15,0
1 231401204 rs6702011 T C 564.79 PASS AB=0.592;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.498;DB;DP=49;Dels=0.0;FS=1.427;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.722;QD=11.53;ReadPosRankSum=1.21;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GNPAT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366646 GT:AD:DP:GQ:PL 0/1:29,20:49:99:595,0,948
1 231401596 rs532226 T C 1370.01 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.05;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GNPAT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366646 GT:AD:DP:GQ:PL 1/1:0,38:38:99:1403,108,0
1 231401902 rs574553 G A 3044.96 PASS AC=2;AF=1.00;AN=2;DB;DP=93;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.55;MQ0=0;QD=32.74;SNPEFF_AMINO_ACID_CHANGE=E244;SNPEFF_CODON_CHANGE=gaG/gaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_231401760_231401911;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GNPAT;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366646 GT:AD:DP:GQ:PL 1/1:0,93:93:99:3078,223,0
1 231403265 rs474297 T C 88.17 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.04;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GNPAT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000436239 GT:AD:DP:GQ:PL 1/1:0,3:4:9.03:120,9,0
1 231406295 rs3767758 T C 170.97 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.19;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GNPAT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000436239 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:204,15,0
1 231406961 rs539699 C T 47.39 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.69;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GNPAT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000492459 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
1 231480507 rs1009227 A G 946.62 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.788;DB;DP=30;Dels=0.0;FS=3.784;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.457;QD=31.55;ReadPosRankSum=1.455;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf124;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000492437 GT:AD:DP:GQ:PL 1/1:2,28:30:33.46:980,33,0
1 231486908 rs2749716 T C 74.84 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=41.96;MQ0=0;QD=24.95;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf124;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000008440 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:107,9,0
1 231486989 rs2474633 A C 403.83 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.8995;MQ=51.25;MQ0=0;QD=23.75;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf124;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000008440 GT:AD:DP:GQ:PL 1/1:5,12:17:33.10:437,33,0
1 231487017 rs2474634 T C 865.93 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.62;MQ0=0;QD=30.93;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf124;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000008440 GT:AD:DP:GQ:PL 1/1:0,27:28:69.22:899,69,0
1 231488524 rs2437150 C T 1580.64 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9665;MQ=58.45;MQ0=0;QD=35.13;SNPEFF_AMINO_ACID_CHANGE=P296L;SNPEFF_CODON_CHANGE=cCt/cTt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_231488356_231490769;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf124;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000295050 GT:AD:DP:GQ:PL 1/1:1,44:45:99:1614,126,0
1 231502244 . A AG 316.27 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.094;DP=24;FS=0.0;HRun=0;HaplotypeScore=204.356;IndelType=I;MQ=56.04;MQ0=0;MQRankSum=0.535;QD=13.18;ReadPosRankSum=-1.354;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EGLN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366641 GT:AD:DP:GQ:PL 0/1:15,8:24:99:355,0,184
1 231502245 rs1435167 T A 140.93 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.04;FS=0.0;HRun=14;HaplotypeScore=8.9374;MQ=56.04;MQ0=0;QD=5.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EGLN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366641 GT:AD:DP:GQ:PL 1/1:0,23:23:18.03:174,18,0
1 231502310 rs1435166 T C 277.65 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.24;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EGLN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366641 GT:AD:DP:GQ:PL 1/1:0,11:11:27.06:311,27,0
1 231506557 rs2256908 G A 269.13 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.9;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EGLN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366641 GT:AD:DP:GQ:PL 1/1:0,9:9:24.06:302,24,0
1 231664607 rs41303127 C T 732.43 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.88;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TSNAX;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366639 GT:AD:DP:GQ:PL 1/1:0,21:21:57.17:765,57,0
1 231931048 rs2273890 T C 356.24 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.168;DB;DP=21;Dels=0.0;FS=5.651;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.528;QD=16.96;ReadPosRankSum=1.883;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DISC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295051 GT:AD:DP:GQ:PL 0/1:9,12:21:99:386,0,264
1 231935661 rs55708369 C T 31.40 MQFilter40 AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=39.12;MQ0=0;MQRankSum=0.0;QD=7.85;ReadPosRankSum=1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DISC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295051 GT:AD:DP:GQ:PL 0/1:2,2:4:24.41:61,0,24
1 231935699 rs4658884 T C 39.99 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=41.96;MQ0=0;MQRankSum=0.736;QD=13.33;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DISC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295051 GT:AD:DP:GQ:PL 1/1:1,2:3:6.02:71,6,0
1 231936016 rs2759354 A G 542.53 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DISC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295051 GT:AD:DP:GQ:PL 1/1:0,16:16:42.14:576,42,0
1 231953994 rs6672782 C G 475.68 PASS AB=0.44;AC=1;AF=0.50;AN=2;BaseQRankSum=0.849;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=0.263;QD=19.03;ReadPosRankSum=-0.498;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DISC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295051 GT:AD:DP:GQ:PL 0/1:11,14:25:99:506,0,328
1 231954101 rs6675281 C T 1227.62 PASS AB=0.488;AC=1;AF=0.50;AN=2;BaseQRankSum=1.569;DB;DP=80;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=3.1898;MQ=59.71;MQ0=0;MQRankSum=-0.058;QD=15.35;ReadPosRankSum=0.135;SNPEFF_AMINO_ACID_CHANGE=L485F;SNPEFF_CODON_CHANGE=Ctc/Ttc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_231954075_231954263;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DISC1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000532576 GT:AD:DP:GQ:PL 0/1:39,41:80:99:1258,0,1203
1 231955906 rs12135059 G A 165.30 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.06;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DISC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295051 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:198,15,0
1 231956086 rs11122343 A T 681.44 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.87;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DISC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295051 GT:AD:DP:GQ:PL 1/1:0,19:19:51.17:714,51,0
1 232002392 rs3082 A G 668.12 PASS AB=0.368;AC=1;AF=0.50;AN=2;BaseQRankSum=0.651;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.51;MQ0=0;MQRankSum=0.56;QD=17.58;ReadPosRankSum=-0.166;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DISC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366637 GT:AD:DP:GQ:PL 0/1:14,24:38:99:698,0,428
1 232535030 rs629939 C T 661.70 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.78;MQ0=0;QD=34.83;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SIPA1L2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000495863 GT:AD:DP:GQ:PL 1/1:0,19:19:51.17:695,51,0
1 232596653 rs1766574 A G 766.81 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.2;MQ0=0;QD=26.44;SNPEFF_AMINO_ACID_CHANGE=H1025;SNPEFF_CODON_CHANGE=caT/caC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_232596633_232596907;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SIPA1L2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000262861 GT:AD:DP:GQ:PL 1/1:0,29:29:66.15:800,66,0
1 232650750 rs3795366 A G 2743.60 PASS AC=2;AF=1.00;AN=2;DB;DP=87;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8667;MQ=59.47;MQ0=0;QD=31.54;SNPEFF_AMINO_ACID_CHANGE=S112;SNPEFF_CODON_CHANGE=tcT/tcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_232649603_232651312;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SIPA1L2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000262861 GT:AD:DP:GQ:PL 1/1:0,87:87:99:2777,220,0
1 232650867 rs4649383 C T 2664.98 PASS AC=2;AF=1.00;AN=2;DB;DP=79;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.71;MQ0=0;QD=33.73;SNPEFF_AMINO_ACID_CHANGE=K73;SNPEFF_CODON_CHANGE=aaG/aaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_232649603_232651312;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SIPA1L2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000262861 GT:AD:DP:GQ:PL 1/1:0,79:79:99:2698,208,0
1 232941354 rs12567597 G T 194.70 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.66;MQ0=0;QD=19.47;SNPEFF_AMINO_ACID_CHANGE=L195;SNPEFF_CODON_CHANGE=ctG/ctT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_232940643_232946092;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA1383;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000418460 GT:AD:DP:GQ:PL 1/1:0,10:10:18.05:228,18,0
1 233086468 . C G 181.80 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=1.455;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.007;QD=8.26;ReadPosRankSum=1.455;SNPEFF_AMINO_ACID_CHANGE=H4Q;SNPEFF_CODON_CHANGE=caC/caG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_233086386_233086490;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NTPCR;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366627 GT:AD:DP:GQ:PL 0/1:14,8:22:99:212,0,351
1 233091463 rs12725558 T A 224.81 PASS AB=0.68;AC=1;AF=0.50;AN=2;BaseQRankSum=1.439;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.17;MQ0=0;MQRankSum=-0.153;QD=8.99;ReadPosRankSum=1.194;SNPEFF_AMINO_ACID_CHANGE=V65;SNPEFF_CODON_CHANGE=gtT/gtA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_233091303_233091465;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NTPCR;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366627 GT:AD:DP:GQ:PL 0/1:17,8:25:99:255,0,527
1 233296891 rs2296515 T C 280.48 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.16;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PCNXL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258229 GT:AD:DP:GQ:PL 1/1:0,9:9:24.08:313,24,0
1 233296908 rs2296516 T G 297.37 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.74;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PCNXL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258229 GT:AD:DP:GQ:PL 1/1:0,10:10:27.08:330,27,0
1 233362930 rs701176 G A 1686.08 PASS AB=0.452;AC=1;AF=0.50;AN=2;BaseQRankSum=5.069;DB;DP=104;Dels=0.0;FS=1.012;HRun=0;HaplotypeScore=0.8667;MQ=59.82;MQ0=0;MQRankSum=0.863;QD=16.21;ReadPosRankSum=1.427;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PCNXL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258229 GT:AD:DP:GQ:PL 0/1:47,57:104:99:1716,0,1082
1 233395214 rs2139998 T A 235.79 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=1.79;DB;DP=16;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.55;MQ0=0;MQRankSum=1.03;QD=14.74;ReadPosRankSum=-0.705;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PCNXL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258229 GT:AD:DP:GQ:PL 0/1:6,10:16:99:266,0,191
1 233397752 rs6701073 T C 712.92 PASS AB=0.611;AC=1;AF=0.50;AN=2;BaseQRankSum=0.362;DB;DP=72;Dels=0.0;FS=2.657;HRun=1;HaplotypeScore=0.9469;MQ=60.0;MQ0=0;MQRankSum=0.664;QD=9.9;ReadPosRankSum=-2.16;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PCNXL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258229 GT:AD:DP:GQ:PL 0/1:44,28:72:99:743,0,1386
1 233398670 rs12132556 C A 1414.58 PASS AB=0.57;AC=1;AF=0.50;AN=2;BaseQRankSum=2.816;DB;DP=107;Dels=0.0;FS=11.268;HRun=1;HaplotypeScore=0.0;MQ=59.78;MQ0=0;MQRankSum=1.369;QD=13.22;ReadPosRankSum=0.475;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PCNXL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258229 GT:AD:DP:GQ:PL 0/1:61,46:107:99:1445,0,2075
1 233398713 rs1033325 C T 1831.75 PASS AB=0.547;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.967;DB;DP=161;Dels=0.0;FS=3.49;HRun=3;HaplotypeScore=0.9734;MQ=59.86;MQ0=0;MQRankSum=0.61;QD=11.38;ReadPosRankSum=-1.638;SNPEFF_AMINO_ACID_CHANGE=R117K;SNPEFF_CODON_CHANGE=aGa/aAa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_233398704_233398909;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PCNXL2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000258229 GT:AD:DP:GQ:PL 0/1:88,73:161:99:1862,0,2943
1 233398927 rs1033324 C G 523.13 HaplotypeScoreFilter13 AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.631;DB;DP=44;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=19.5718;MQ=60.22;MQ0=0;MQRankSum=0.129;QD=11.89;ReadPosRankSum=-0.035;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PCNXL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258229 GT:AD:DP:GQ:PL 0/1:22,22:44:99:553,0,720
1 233398931 rs5781734 G GC 726.82 PASS AB=0.655;AC=1;AF=0.50;AN=2;BaseQRankSum=4.563;DB;DP=36;FS=1.868;HRun=0;HaplotypeScore=160.0085;IndelType=I;MQ=60.26;MQ0=0;MQRankSum=-0.444;QD=20.19;ReadPosRankSum=-0.761;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PCNXL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258229 GT:AD:DP:GQ:PL 0/1:17,19:36:99:766,0,600
1 233424788 rs1294329 T G 1351.94 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=2.481;DB;DP=90;Dels=0.0;FS=2.847;HRun=1;HaplotypeScore=0.0;MQ=54.35;MQ0=0;MQRankSum=-1.742;QD=15.02;ReadPosRankSum=-1.725;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PCNXL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258229 GT:AD:DP:GQ:PL 0/1:40,50:90:99:1382,0,1314
1 233431241 rs10442595 G A 70.63 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9997;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=17.66;ReadPosRankSum=0.727;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_1_233431072_233431459;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PCNXL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258229 GT:AD:DP:GQ:PL 0/1:1,3:4:27.97:101,0,28
1 233489499 rs7539016 A G 337.81 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.477;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.14;MQ0=0;MQRankSum=0.675;QD=12.51;ReadPosRankSum=-0.156;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RP5-862P8.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366623 GT:AD:DP:GQ:PL 0/1:12,15:27:99:368,0,375
1 233489529 rs7549137 G A 388.31 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=1.488;DB;DP=27;Dels=0.0;FS=1.792;HRun=1;HaplotypeScore=0.9469;MQ=59.14;MQ0=0;MQRankSum=-1.147;QD=14.38;ReadPosRankSum=-0.708;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RP5-862P8.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366623 GT:AD:DP:GQ:PL 0/1:15,12:27:99:418,0,486
1 233489707 rs7551511 G T 342.73 PASS AB=0.659;AC=1;AF=0.50;AN=2;BaseQRankSum=0.246;DB;DP=44;Dels=0.02;FS=1.285;HRun=2;HaplotypeScore=1.933;MQ=59.49;MQ0=0;MQRankSum=-0.479;QD=7.62;ReadPosRankSum=-1.05;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RP5-862P8.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366623 GT:AD:DP:GQ:PL 0/1:29,15:44:99:373,0,896
1 233490408 rs2049183 T A 206.97 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.04;MQ0=0;QD=34.49;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RP5-862P8.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366623 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:240,18,0
1 233490536 . A AATGTCTTGGGGATAATCTG 2466.49 PASS AB=0.778;AC=1;AF=0.50;AN=2;BaseQRankSum=3.367;DP=35;FS=4.59;HRun=0;HaplotypeScore=498.9541;IndelType=I;MQ=55.13;MQ0=0;MQRankSum=-2.622;QD=70.47;ReadPosRankSum=-1.205;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RP5-862P8.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366623 GT:AD:DP:GQ:PL 0/1:25,1:35:99:2506,0,2877
1 233490543 rs2049182 G A 142.77 PASS AB=0.618;AC=1;AF=0.50;AN=2;BaseQRankSum=3.438;DB;DP=35;Dels=0.0;FS=6.764;HRun=0;HaplotypeScore=0.9332;MQ=56.22;MQ0=0;MQRankSum=-2.8;QD=4.08;ReadPosRankSum=-3.544;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RP5-862P8.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366623 GT:AD:DP:GQ:PL 0/1:21,13:35:99:173,0,610
1 233512355 rs12731651 C T 182.37 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=2.637;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=-0.717;QD=16.58;ReadPosRankSum=-0.825;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RP5-862P8.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366623 GT:AD:DP:GQ:PL 0/1:5,6:11:99:212,0,140
1 233515413 rs1402815 G A 604.86 PASS AB=0.51;AC=1;AF=0.50;AN=2;BaseQRankSum=2.61;DB;DP=52;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.56;MQ0=0;MQRankSum=-0.594;QD=11.63;ReadPosRankSum=-0.82;SNPEFF_AMINO_ACID_CHANGE=P333;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_233514677_233515456;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RP5-862P8.2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366622 GT:AD:DP:GQ:PL 0/1:26,25:52:99:635,0,815
1 233785716 rs17814096 T G 1833.43 PASS AB=0.488;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.848;DB;DP=129;Dels=0.0;FS=2.295;HRun=0;HaplotypeScore=4.087;MQ=59.86;MQ0=0;MQRankSum=0.048;QD=14.21;ReadPosRankSum=-0.229;SNPEFF_AMINO_ACID_CHANGE=V10;SNPEFF_CODON_CHANGE=gtT/gtG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_233785687_233785795;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNK1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000446915 GT:AD:DP:GQ:PL 0/1:63,66:129:99:1863,0,1979
1 233785786 rs4649241 A C 1740.87 PASS AB=0.518;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.017;DB;DP=139;Dels=0.0;FS=0.636;HRun=0;HaplotypeScore=0.7887;MQ=59.83;MQ0=0;MQRankSum=-0.002;QD=12.52;ReadPosRankSum=-0.671;SNPEFF_AMINO_ACID_CHANGE=S34R;SNPEFF_CODON_CHANGE=Agt/Cgt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_233785687_233785795;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNK1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000446915 GT:AD:DP:GQ:PL 0/1:72,67:139:99:1771,0,2298
1 234367549 rs2236220 T C 600.96 PASS AB=0.39;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.024;DB;DP=41;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.141;QD=14.66;ReadPosRankSum=-0.329;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC35F3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366617 GT:AD:DP:GQ:PL 0/1:16,25:41:99:631,0,458
1 234454405 rs657010 A C 500.51 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.44;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC35F3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366617 GT:AD:DP:GQ:PL 1/1:0,17:17:45.14:534,45,0
1 234509259 rs10910420 G C 400.46 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.505;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.84;MQ0=0;MQRankSum=0.041;QD=10.01;ReadPosRankSum=-2.14;SNPEFF_AMINO_ACID_CHANGE=S16T;SNPEFF_CODON_CHANGE=aGt/aCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_234509202_234509424;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf31;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366615 GT:AD:DP:GQ:PL 0/1:24,16:40:99:430,0,811
1 234509858 rs67513481 GT G 39.65 PASS AB=0.65;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.0;DB;DP=13;FS=0.0;HRun=17;HaplotypeScore=87.6978;IndelType=D;MQ=59.06;MQ0=0;MQRankSum=0.135;QD=3.05;ReadPosRankSum=0.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf31;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366613 GT:AD:DP:GQ:PL 0/1:5,7:13:74.16:79,0,74
1 234510262 rs4300255 A G 99.83 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=2.072;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=9.98;ReadPosRankSum=1.133;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf31;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366612 GT:AD:DP:GQ:PL 0/1:6,4:10:99:130,0,211
1 234519385 rs10797539 T C 64.60 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.296;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.296;QD=6.46;ReadPosRankSum=-0.296;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf31;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366612 GT:AD:DP:GQ:PL 0/1:7,3:10:94.60:95,0,257
1 234519452 rs113315735 C CT 555.25 PASS AB=0.676;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.533;DB;DP=46;FS=2.102;HRun=9;HaplotypeScore=137.7646;IndelType=I;MQ=59.23;MQ0=0;MQRankSum=-0.246;QD=12.07;ReadPosRankSum=-0.176;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf31;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366612 GT:AD:DP:GQ:PL 0/1:23,22:46:99:594,0,420
1 234527575 rs3862040 C T 172.35 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=0.825;DB;DP=11;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.8667;MQ=55.66;MQ0=0;MQRankSum=-0.717;QD=15.67;ReadPosRankSum=2.181;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TARBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000040877 GT:AD:DP:GQ:PL 0/1:5,6:11:99:202,0,129
1 234527992 rs3754318 A G 350.66 PASS AB=0.294;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.053;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.474;QD=20.63;ReadPosRankSum=-0.264;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TARBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000040877 GT:AD:DP:GQ:PL 0/1:5,12:17:99:381,0,155
1 234528006 rs3754317 A G 413.36 PASS AB=0.3;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.505;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.289;QD=20.67;ReadPosRankSum=0.784;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TARBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000040877 GT:AD:DP:GQ:PL 0/1:6,14:20:99:443,0,188
1 234528373 rs7523423 C T 533.02 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=5.11;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=59.36;MQ0=0;MQRankSum=0.079;QD=14.81;ReadPosRankSum=-0.997;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TARBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000040877 GT:AD:DP:GQ:PL 0/1:18,18:36:99:563,0,504
1 234529552 rs2175594 C T 1192.07 PASS AB=0.474;AC=1;AF=0.50;AN=2;BaseQRankSum=5.03;DB;DP=78;Dels=0.0;FS=11.868;HRun=0;HaplotypeScore=1.3123;MQ=59.7;MQ0=0;MQRankSum=-0.619;QD=15.28;ReadPosRankSum=1.566;SNPEFF_AMINO_ACID_CHANGE=A1425;SNPEFF_CODON_CHANGE=gcG/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_234529392_234529583;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TARBP1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000040877 GT:AD:DP:GQ:PL 0/1:37,41:78:99:1222,0,953
1 234529570 rs2175593 G A 974.38 PASS AB=0.449;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.018;DB;DP=69;Dels=0.0;FS=9.064;HRun=1;HaplotypeScore=0.0;MQ=59.67;MQ0=0;MQRankSum=-0.187;QD=14.12;ReadPosRankSum=-0.549;SNPEFF_AMINO_ACID_CHANGE=V1419;SNPEFF_CODON_CHANGE=gtC/gtT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_234529392_234529583;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TARBP1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000040877 GT:AD:DP:GQ:PL 0/1:31,38:69:99:1004,0,1035
1 234541622 rs2271444 G T 396.17 PASS AB=0.385;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.871;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=59.11;MQ0=0;MQRankSum=-0.132;QD=15.24;ReadPosRankSum=0.395;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TARBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463793 GT:AD:DP:GQ:PL 0/1:10,16:26:99:426,0,266
1 234546014 rs72763876 G A 88.52 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.51;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TARBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463793 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:121,9,0
1 234546245 rs1141264 C T 824.12 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=2.805;DB;DP=97;Dels=0.0;FS=7.199;HRun=0;HaplotypeScore=0.9469;MQ=60.0;MQ0=0;MQRankSum=1.823;QD=8.5;ReadPosRankSum=0.946;SNPEFF_AMINO_ACID_CHANGE=T1246;SNPEFF_CODON_CHANGE=acG/acA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_234546191_234546277;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TARBP1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000040877 GT:AD:DP:GQ:PL 0/1:64,32:97:99:854,0,1753
1 234563060 rs443685 T C 540 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.331;DB;DP=32;Dels=0.0;FS=1.44;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.798;QD=16.87;ReadPosRankSum=-1.888;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TARBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000040877 GT:AD:DP:GQ:PL 0/1:12,20:32:99:570,0,275
1 234564829 . G T 177.06 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.365;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.365;QD=17.71;ReadPosRankSum=0.365;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TARBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000040877 GT:AD:DP:GQ:PL 0/1:4,6:10:99:207,0,129
1 234596202 rs270511 T A 177.82 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.133;DB;DP=10;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.633;QD=17.78;ReadPosRankSum=0.741;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TARBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000040877 GT:AD:DP:GQ:PL 0/1:4,6:10:99:208,0,124
1 234603075 rs270503 G T 99.27 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=0.55;DB;DP=7;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.55;QD=14.18;ReadPosRankSum=0.937;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TARBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000040877 GT:AD:DP:GQ:PL 0/1:3,4:7:99:129,0,102
1 234603386 rs270502 G T 438.85 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.358;DB;DP=24;Dels=0.0;FS=3.851;HRun=0;HaplotypeScore=0.9789;MQ=59.22;MQ0=0;MQRankSum=-0.337;QD=18.29;ReadPosRankSum=0.153;SNPEFF_AMINO_ACID_CHANGE=L370;SNPEFF_CODON_CHANGE=ctC/ctA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_234603248_234603396;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TARBP1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000040877 GT:AD:DP:GQ:PL 0/1:8,16:24:99:469,0,275
1 234608326 rs271775 C A 252.72 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=0.898;DB;DP=10;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.48;QD=25.27;ReadPosRankSum=-0.48;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TARBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000040877 GT:AD:DP:GQ:PL 0/1:2,8:10:54.31:283,0,54
1 235285457 rs4659822 C T 62.83 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.221;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.05;MQ0=0;MQRankSum=-0.322;QD=7.85;ReadPosRankSum=0.322;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TOMM20;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366607 GT:AD:DP:GQ:PL 0/1:5,3:8:92.82:93,0,185
1 235285740 rs4659823 C T 1435.15 PASS AB=0.447;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.065;DB;DP=94;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.8136;MQ=60.0;MQ0=0;MQRankSum=0.551;QD=15.27;ReadPosRankSum=-0.932;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TOMM20;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366607 GT:AD:DP:GQ:PL 0/1:42,52:94:99:1465,0,1352
1 235290922 rs4329572 C A 168.52 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.7;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RBM34;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366606 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:201,15,0
1 235311767 rs140896073 C T 561.12 PASS AB=0.553;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.888;DB;DP=48;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=3.6668;MQ=59.52;MQ0=0;MQRankSum=-0.503;QD=11.69;ReadPosRankSum=-0.289;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RBM34;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000476261 GT:AD:DP:GQ:PL 0/1:26,21:48:99:591,0,734
1 235335817 rs12035188 C T 41.63 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=13.88;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ARID4B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474401 GT:AD:DP:GQ:PL 0/1:1,2:3:32.20:72,0,32
1 235338377 rs12731779 G A 102.07 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=1.098;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.098;QD=9.28;ReadPosRankSum=-2.45;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ARID4B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491632 GT:AD:DP:GQ:PL 0/1:6,5:11:99:132,0,134
1 235357303 rs34768226 A ATG 816.55 PASS AB=0.772;AC=1;AF=0.50;AN=2;BaseQRankSum=4.831;DB;DP=44;FS=3.505;HRun=0;HaplotypeScore=186.7351;IndelType=I;MQ=52.17;MQ0=0;MQRankSum=-4.757;QD=18.56;ReadPosRankSum=-0.956;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ARID4B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264183 GT:AD:DP:GQ:PL 0/1:31,13:44:99:856,0,1143
1 235357314 rs35180803 AT A 592.88 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=5.747;DB;DP=50;FS=7.185;HRun=2;HaplotypeScore=193.4659;IndelType=D;MQ=52.48;MQ0=0;MQRankSum=-4.262;QD=11.86;ReadPosRankSum=-0.824;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ARID4B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264183 GT:AD:DP:GQ:PL 0/1:30,20:50:99:632,0,1152
1 235357543 rs10802438 A G 174.24 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.244;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.04;MQ0=0;MQRankSum=-0.529;QD=14.52;ReadPosRankSum=-1.461;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ARID4B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264183 GT:AD:DP:GQ:PL 0/1:5,7:12:99:204,0,171
1 235383188 rs4659654 A G 755.98 PASS AB=0.607;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.937;DB;DP=61;Dels=0.0;FS=1.27;HRun=0;HaplotypeScore=0.9958;MQ=59.69;MQ0=0;MQRankSum=-0.923;QD=12.39;ReadPosRankSum=0.923;SNPEFF_AMINO_ACID_CHANGE=D501;SNPEFF_CODON_CHANGE=gaT/gaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_235383108_235383283;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ARID4B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000264183 GT:AD:DP:GQ:PL 0/1:37,24:61:99:786,0,1233
1 235383351 rs3795250 T C 63.37 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=1.422;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.573;QD=7.04;ReadPosRankSum=-1.001;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ARID4B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264183 GT:AD:DP:GQ:PL 0/1:6,3:9:93.36:93,0,217
1 235392354 rs4659674 T A 77.70 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.988;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.406;QD=12.95;ReadPosRankSum=1.537;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ARID4B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264183 GT:AD:DP:GQ:PL 0/1:3,3:6:99:108,0,106
1 235392546 rs12731746 T C 519.83 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.613;DB;DP=38;Dels=0.0;FS=7.125;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.701;QD=13.68;ReadPosRankSum=1.022;SNPEFF_AMINO_ACID_CHANGE=E299;SNPEFF_CODON_CHANGE=gaA/gaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_235392546_235392700;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ARID4B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000264183 GT:AD:DP:GQ:PL 0/1:19,19:38:99:550,0,584
1 235394278 rs12753166 G T 133.96 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.572;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.39;MQ0=0;MQRankSum=0.0;QD=14.88;ReadPosRankSum=-1.067;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ARID4B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264183 GT:AD:DP:GQ:PL 0/1:3,6:9:54.44:164,0,54
1 235394541 rs7518225 A C 168.51 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.678;DB;DP=16;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=57.34;MQ0=0;MQRankSum=1.103;QD=10.53;ReadPosRankSum=1.838;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ARID4B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264183 GT:AD:DP:GQ:PL 0/1:8,8:16:99:199,0,223
1 235490391 rs3840452 CA C 92.09 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=1.38;DB;DP=7;FS=0.0;HRun=2;HaplotypeScore=55.9237;IndelType=D;MQ=58.24;MQ0=0;MQRankSum=-0.72;QD=13.16;ReadPosRankSum=-0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ARID4B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264183 GT:AD:DP:GQ:PL 0/1:2,5:7:71.93:131,0,72
1 235504807 rs2789368 C T 44.66 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.33;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GGPS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282841 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:76,6,0
1 235505313 rs3841735 A AT 476.24 PASS AB=0.653;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.305;DB;DP=32;FS=3.467;HRun=7;HaplotypeScore=68.8266;IndelType=I;MQ=60.67;MQ0=0;MQRankSum=0.793;QD=14.88;ReadPosRankSum=-0.944;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GGPS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282841 GT:AD:DP:GQ:PL 0/1:15,17:32:99:515,0,338
1 235594182 rs2291687 A G 259.10 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.177;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.71;MQ0=0;MQRankSum=0.883;QD=14.39;ReadPosRankSum=1.06;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TBCE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366601 GT:AD:DP:GQ:PL 0/1:9,9:18:99:289,0,288
1 235598973 rs2055127 C T 440.54 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.34;DB;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.5784;MQ=58.95;MQ0=0;MQRankSum=1.267;QD=20.02;ReadPosRankSum=0.76;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TBCE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461651 GT:AD:DP:GQ:PL 0/1:8,14:22:99:471,0,269
1 235601958 rs3819974 G T 66.13 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=0.895;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.731;QD=6.61;ReadPosRankSum=1.58;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TBCE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000482230 GT:AD:DP:GQ:PL 0/1:7,3:10:96.12:96,0,255
1 235602404 rs2270538 G A 35.94 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.72;QD=5.99;ReadPosRankSum=-1.38;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TBCE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000482230 GT:AD:DP:GQ:PL 0/1:4,2:6:65.93:66,0,153
1 235628908 rs1305556 G A 1174.28 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=1.673;DB;DP=75;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.367;MQ=60.0;MQ0=0;MQRankSum=1.333;QD=15.66;ReadPosRankSum=1.375;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=B3GALNT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366599 GT:AD:DP:GQ:PL 0/1:35,40:75:99:1204,0,997
1 235647631 rs291387 G T 1219.54 PASS AB=0.543;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.091;DB;DP=92;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=59.5;MQ0=0;MQRankSum=-0.419;QD=13.26;ReadPosRankSum=-0.865;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=B3GALNT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313984 GT:AD:DP:GQ:PL 0/1:50,42:92:99:1250,0,1655
1 235648025 rs291388 C A 155.72 PASS AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=25.95;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=B3GALNT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313984 GT:AD:DP:GQ:PL 0/1:1,5:6:21.95:186,0,22
1 235652513 rs291396 T C 608.76 PASS AB=0.554;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.263;DB;DP=56;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9789;MQ=59.59;MQ0=0;MQRankSum=-0.331;QD=10.87;ReadPosRankSum=1.468;SNPEFF_AMINO_ACID_CHANGE=E107;SNPEFF_CODON_CHANGE=gaA/gaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_235652473_235652573;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=B3GALNT2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366600 GT:AD:DP:GQ:PL 0/1:31,25:56:99:639,0,882
1 235715523 rs14326 A G 811.46 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.201;DB;DP=70;Dels=0.0;FS=2.37;HRun=1;HaplotypeScore=2.6917;MQ=59.67;MQ0=0;MQRankSum=-0.291;QD=11.59;ReadPosRankSum=0.03;SNPEFF_AMINO_ACID_CHANGE=A38;SNPEFF_CODON_CHANGE=gcT/gcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_235714132_235715537;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GNG4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366597 GT:AD:DP:GQ:PL 0/1:40,30:70:99:841,0,1322
1 235715556 rs423026 C G 588.52 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=2.091;DB;DP=49;Dels=0.0;FS=3.281;HRun=0;HaplotypeScore=2.6175;MQ=59.05;MQ0=0;MQRankSum=-1.97;QD=12.01;ReadPosRankSum=-0.071;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GNG4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366597 GT:AD:DP:GQ:PL 0/1:28,21:49:99:619,0,914
1 235715601 rs400948 A G 302.54 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.718;DB;DP=20;Dels=0.0;FS=3.245;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.567;QD=15.13;ReadPosRankSum=-1.398;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GNG4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366597 GT:AD:DP:GQ:PL 0/1:10,10:20:99:333,0,343
1 235715617 rs452950 A C 150.96 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.943;DB;DP=16;Dels=0.0;FS=3.31;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.053;QD=9.43;ReadPosRankSum=-0.998;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GNG4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366597 GT:AD:DP:GQ:PL 0/1:8,8:16:99:181,0,279
1 235715661 rs387492 A G 152.19 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=2.219;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9998;MQ=60.0;MQ0=0;MQRankSum=1.307;QD=16.91;ReadPosRankSum=1.652;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GNG4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366597 GT:AD:DP:GQ:PL 0/1:4,5:9:99:182,0,128
1 235747005 rs2774335 C T 535.82 PASS AB=0.588;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.963;DB;DP=51;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.5784;MQ=59.63;MQ0=0;MQRankSum=0.02;QD=10.51;ReadPosRankSum=1.199;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GNG4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366597 GT:AD:DP:GQ:PL 0/1:30,21:51:99:566,0,984
1 235747154 rs2774336 A G 722.77 PASS AB=0.542;AC=1;AF=0.50;AN=2;BaseQRankSum=1.057;DB;DP=59;Dels=0.0;FS=13.954;HRun=1;HaplotypeScore=2.8905;MQ=59.22;MQ0=0;MQRankSum=0.251;QD=12.25;ReadPosRankSum=0.099;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GNG4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366597 GT:AD:DP:GQ:PL 0/1:32,27:59:99:753,0,1123
1 235826382 rs36014994 TA T 388.40 PASS AB=0.716;AC=1;AF=0.50;AN=2;BaseQRankSum=3.287;DB;DP=68;FS=1.209;HRun=13;HaplotypeScore=233.0655;IndelType=D;MQ=60.26;MQ0=0;MQRankSum=1.194;QD=5.71;ReadPosRankSum=-1.124;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LYST;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389793 GT:AD:DP:GQ:PL 0/1:41,27:68:99:427,0,609
1 235827443 rs3819013 T C 526.11 PASS AB=0.406;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.758;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.153;QD=16.44;ReadPosRankSum=-0.038;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LYST;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389793 GT:AD:DP:GQ:PL 0/1:13,19:32:99:556,0,452
1 235827641 rs12092604 C T 253.43 PASS AB=0.385;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.67;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.092;QD=19.49;ReadPosRankSum=-0.212;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LYST;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389793 GT:AD:DP:GQ:PL 0/1:5,8:13:99:283,0,171
1 235856901 rs3754232 G A 161.03 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.359;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=0.825;QD=14.64;ReadPosRankSum=0.143;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LYST;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389793 GT:AD:DP:GQ:PL 0/1:5,6:11:99:191,0,176
1 235860340 rs7541057 C T 263.91 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.533;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.036;QD=12.57;ReadPosRankSum=1.173;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LYST;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389793 GT:AD:DP:GQ:PL 0/1:12,9:21:99:294,0,401
1 235872665 rs2275856 T C 111.47 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.368;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.922;QD=13.93;ReadPosRankSum=0.421;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LYST;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475277 GT:AD:DP:GQ:PL 0/1:4,4:8:99:141,0,136
1 235887276 rs6667717 G T 389.28 PASS AB=0.516;AC=1;AF=0.50;AN=2;BaseQRankSum=0.296;DB;DP=32;Dels=0.0;FS=1.71;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.02;QD=12.16;ReadPosRankSum=0.376;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LYST;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389793 GT:AD:DP:GQ:PL 0/1:16,15:32:99:419,0,532
1 235896726 rs6429275 C T 154.56 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=1.92;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.322;QD=19.32;ReadPosRankSum=0.322;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LYST;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461526 GT:AD:DP:GQ:PL 0/1:3,5:8:89.83:185,0,90
1 235918688 rs71576487 C CAAAAG 1990.02 PASS AB=0.682;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.599;DB;DP=60;FS=0.0;HRun=0;HaplotypeScore=417.0191;IndelType=I;MQ=60.65;MQ0=0;MQRankSum=0.068;QD=33.17;ReadPosRankSum=-2.316;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LYST;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000489585 GT:AD:DP:GQ:PL 0/1:13,23:60:99:2029,0,646
1 235922228 rs3738519 T C 256.20 PASS AB=0.353;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.251;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.5449;MQ=60.0;MQ0=0;MQRankSum=-1.558;QD=15.07;ReadPosRankSum=0.151;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LYST;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000489585 GT:AD:DP:GQ:PL 0/1:6,11:17:99:286,0,160
1 235929237 rs12565325 A G 285.75 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=2.594;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9975;MQ=60.0;MQ0=0;MQRankSum=-2.025;QD=12.99;ReadPosRankSum=0.391;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LYST;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389793 GT:AD:DP:GQ:PL 0/1:12,10:22:99:316,0,423
1 235940450 rs2273584 C T 1108.11 PASS AB=0.448;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.192;DB;DP=67;Dels=0.0;FS=6.981;HRun=3;HaplotypeScore=1.6609;MQ=60.0;MQ0=0;MQRankSum=-1.595;QD=16.54;ReadPosRankSum=-0.662;SNPEFF_AMINO_ACID_CHANGE=K1791;SNPEFF_CODON_CHANGE=aaG/aaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_235940363_235940608;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LYST;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000389793 GT:AD:DP:GQ:PL 0/1:30,37:67:99:1138,0,910
1 235945294 rs6696123 T C 681.78 PASS AB=0.421;AC=1;AF=0.50;AN=2;BaseQRankSum=1.848;DB;DP=38;Dels=0.0;FS=1.336;HRun=0;HaplotypeScore=0.0;MQ=58.39;MQ0=0;MQRankSum=0.99;QD=17.94;ReadPosRankSum=0.192;SNPEFF_AMINO_ACID_CHANGE=L1652;SNPEFF_CODON_CHANGE=ttA/ttG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_235945227_235945387;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LYST;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000389793 GT:AD:DP:GQ:PL 0/1:16,22:38:99:712,0,544
1 235945502 rs2011390 A G 118.29 PASS AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.04;MQ0=0;MQRankSum=-0.736;QD=19.71;ReadPosRankSum=-0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LYST;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000492844 GT:AD:DP:GQ:PL 0/1:1,5:6:27.60:148,0,28
1 235972435 rs3820553 T C 1599.35 PASS AB=0.435;AC=1;AF=0.50;AN=2;BaseQRankSum=3.273;DB;DP=92;Dels=0.0;FS=12.609;HRun=0;HaplotypeScore=1.6584;MQ=59.55;MQ0=0;MQRankSum=0.839;QD=17.38;ReadPosRankSum=-1.894;SNPEFF_AMINO_ACID_CHANGE=L561;SNPEFF_CODON_CHANGE=ctA/ctG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_235971755_235973834;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LYST;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000389793 GT:AD:DP:GQ:PL 0/1:40,52:92:99:1629,0,1279
1 235972867 rs1063128 T C 645.49 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=0.266;DB;DP=52;Dels=0.0;FS=8.114;HRun=0;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=-0.652;QD=12.41;ReadPosRankSum=-2.193;SNPEFF_AMINO_ACID_CHANGE=Q417;SNPEFF_CODON_CHANGE=caA/caG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_235971755_235973834;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LYST;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000389793 GT:AD:DP:GQ:PL 0/1:28,24:52:99:675,0,947
1 236142565 rs1536132 T C 76.87 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.62;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NID1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264187 GT:AD:DP:GQ:PL 1/1:0,3:3:9.02:109,9,0
1 236154012 rs1041111 C T 227.67 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.52;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NID1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264187 GT:AD:DP:GQ:PL 1/1:0,7:7:21.05:261,21,0
1 236175153 rs2031486 T C 410.58 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.059;DB;DP=32;Dels=0.0;FS=1.845;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.719;QD=12.83;ReadPosRankSum=0.02;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NID1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264187 GT:AD:DP:GQ:PL 0/1:16,16:32:99:441,0,516
1 236175339 rs2031487 T C 196.83 PASS AB=0.56;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.736;DB;DP=25;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=55.21;MQ0=0;MQRankSum=2.045;QD=7.87;ReadPosRankSum=0.501;SNPEFF_AMINO_ACID_CHANGE=V803;SNPEFF_CODON_CHANGE=gtA/gtG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_236175221_236175343;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NID1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000264187 GT:AD:DP:GQ:PL 0/1:14,11:25:99:227,0,408
1 236205061 rs4584382 C T 231.22 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.03;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NID1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264187 GT:AD:DP:GQ:PL 1/1:0,7:7:21.06:264,21,0
1 236205121 rs4297282 T C 778.97 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.09;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NID1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264187 GT:AD:DP:GQ:PL 1/1:0,21:21:60.19:812,60,0
1 236205704 rs12033187 C T 969.62 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=59.14;MQ0=0;QD=35.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NID1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264187 GT:AD:DP:GQ:PL 1/1:0,26:27:78.21:1003,78,0
1 236208773 rs10733133 C T 1153.52 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.815;DB;DP=36;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.48;MQ0=0;MQRankSum=0.815;QD=32.04;ReadPosRankSum=-1.427;SNPEFF_AMINO_ACID_CHANGE=V246I;SNPEFF_CODON_CHANGE=Gtt/Att;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_236208757_236208983;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NID1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000264187 GT:AD:DP:GQ:PL 1/1:1,34:36:51.07:1187,51,0
1 236209024 rs3768088 C G 340.31 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.81;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NID1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264187 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:373,27,0
1 236212038 rs6665008 G A 208.44 PASS AB=0.529;AC=1;AF=0.50;AN=2;BaseQRankSum=1.684;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.241;QD=12.26;ReadPosRankSum=-1.395;SNPEFF_AMINO_ACID_CHANGE=S159;SNPEFF_CODON_CHANGE=tcC/tcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_236211990_236212289;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NID1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000264187 GT:AD:DP:GQ:PL 0/1:9,8:17:99:238,0,258
1 236368227 rs1254207 C T 30.53 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.38;QD=5.09;ReadPosRankSum=-0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR137B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366592 GT:AD:DP:GQ:PL 0/1:4,2:6:60.52:61,0,144
1 236368391 rs66766039 C CT 1942.99 PASS AB=0.651;AC=1;AF=0.50;AN=2;BaseQRankSum=-6.272;DB;DP=95;FS=2.019;HRun=1;HaplotypeScore=252.6819;IndelType=I;MQ=58.89;MQ0=0;MQRankSum=1.65;QD=20.45;ReadPosRankSum=0.558;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR137B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366592 GT:AD:DP:GQ:PL 0/1:44,51:95:99:1982,0,1246
1 236368708 rs1254206 T C 404.24 PASS AB=0.368;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.141;DB;DP=19;Dels=0.0;FS=4.771;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.211;QD=21.28;ReadPosRankSum=1.733;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR137B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000419162 GT:AD:DP:GQ:PL 0/1:7,12:19:99:434,0,198
1 236381825 rs1055851 G C 948.60 PASS AB=0.379;AC=1;AF=0.50;AN=2;BaseQRankSum=0.024;DB;DP=58;Dels=0.0;FS=3.806;HRun=0;HaplotypeScore=0.7887;MQ=59.68;MQ0=0;MQRankSum=-0.905;QD=16.36;ReadPosRankSum=-0.441;SNPEFF_AMINO_ACID_CHANGE=H465Q;SNPEFF_CODON_CHANGE=caC/caG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_236378855_236381876;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ERO1LB;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000354619 GT:AD:DP:GQ:PL 0/1:22,36:58:99:979,0,603
1 236381897 rs1615601 T A 833.23 PASS AB=0.431;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.775;DB;DP=51;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.63;MQ0=0;MQRankSum=-0.086;QD=16.34;ReadPosRankSum=-1.835;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ERO1LB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264181 GT:AD:DP:GQ:PL 0/1:22,29:51:99:863,0,661
1 236381917 rs1614938 T A 551.08 PASS AB=0.488;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.917;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.4942;MQ=60.0;MQ0=0;MQRankSum=1.578;QD=13.44;ReadPosRankSum=-0.848;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ERO1LB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264181 GT:AD:DP:GQ:PL 0/1:20,21:41:99:581,0,589
1 236381987 rs1749598 A G 159.78 PASS AB=0.273;AC=1;AF=0.50;AN=2;BaseQRankSum=1.931;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.382;QD=14.53;ReadPosRankSum=0.382;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ERO1LB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264181 GT:AD:DP:GQ:PL 0/1:3,8:11:83.27:190,0,83
1 236381989 rs1749599 C A 155.77 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.6;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.289;QD=12.98;ReadPosRankSum=0.825;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ERO1LB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264181 GT:AD:DP:GQ:PL 0/1:4,8:12:99:186,0,124
1 236383889 rs2463192 T A 140.84 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=0.198;DB;DP=7;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.198;QD=20.12;ReadPosRankSum=-0.198;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ERO1LB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354619 GT:AD:DP:GQ:PL 0/1:2,5:7:62.39:171,0,62
1 236383910 rs2463191 G A 116.82 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=19.47;ReadPosRankSum=0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ERO1LB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354619 GT:AD:DP:GQ:PL 0/1:2,4:6:64.95:147,0,65
1 236384022 rs34880815 A ATTT 1580.44 PASS AB=0.697;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.23;DB;DP=69;FS=2.235;HRun=9;HaplotypeScore=271.4043;IndelType=I;MQ=56.9;MQ0=0;MQRankSum=-1.038;QD=22.9;ReadPosRankSum=0.264;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ERO1LB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354619 GT:AD:DP:GQ:PL 0/1:39,26:69:99:1619,0,1129
1 236384278 rs1405624 G C 366.04 PASS AB=0.552;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.592;DB;DP=29;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9734;MQ=57.41;MQ0=0;MQRankSum=0.417;QD=12.62;ReadPosRankSum=-1.381;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ERO1LB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264181 GT:AD:DP:GQ:PL 0/1:16,13:29:99:396,0,556
1 236385165 rs2463189 G C 62.12 PASS AB=0.727;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9993;MQ=60.0;MQ0=0;MQRankSum=-0.978;QD=5.18;ReadPosRankSum=-0.566;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ERO1LB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264181 GT:AD:DP:GQ:PL 0/1:8,3:12:92.12:92,0,287
1 236385360 rs2477587 C T 88.16 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=1.239;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.6988;MQ=60.0;MQ0=0;MQRankSum=-1.239;QD=6.78;ReadPosRankSum=0.289;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR137B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477559 GT:AD:DP:GQ:PL 0/1:8,4:13:99:118,0,259
1 236385379 rs2463188 A G 96.98 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.741;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.365;QD=9.7;ReadPosRankSum=0.365;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR137B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477559 GT:AD:DP:GQ:PL 0/1:6,4:10:99:127,0,224
1 236393654 rs2812471 A G 1214.68 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.55;MQ0=0;QD=37.96;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ERO1LB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354619 GT:AD:DP:GQ:PL 1/1:0,32:32:93.28:1248,93,0
1 236398938 rs1268614 C T 138.79 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.932;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.031;QD=12.62;ReadPosRankSum=-0.825;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ERO1LB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327333 GT:AD:DP:GQ:PL 0/1:6,5:11:99:169,0,221
1 236399442 rs1254194 G T 259.93 PASS AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.552;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.68;MQ0=0;MQRankSum=-0.367;QD=13.68;ReadPosRankSum=1.021;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ERO1LB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366589 GT:AD:DP:GQ:PL 0/1:10,9:19:99:290,0,354
1 236406593 rs2695061 T C 44.87 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.44;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ERO1LB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327333 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:76,6,0
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1 236413362 rs2477598 C T 421.48 PASS AB=0.381;AC=1;AF=0.50;AN=2;BaseQRankSum=1.267;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.543;QD=20.07;ReadPosRankSum=0.978;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ERO1LB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327333 GT:AD:DP:GQ:PL 0/1:8,13:21:99:451,0,245
1 236413384 rs2477597 T C 168.61 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.572;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.589;QD=21.08;ReadPosRankSum=1.067;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ERO1LB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327333 GT:AD:DP:GQ:PL 0/1:2,6:8:59.23:199,0,59
1 236415347 rs60724318 T C 1142.15 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=1.438;DB;DP=63;Dels=0.0;FS=3.599;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.701;QD=18.13;ReadPosRankSum=0.313;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ERO1LB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327333 GT:AD:DP:GQ:PL 0/1:27,36:63:99:1172,0,777
1 236415444 rs1618510 G A 789.06 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=1.012;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.172;QD=23.91;ReadPosRankSum=0.745;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ERO1LB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327333 GT:AD:DP:GQ:PL 0/1:11,22:33:99:819,0,353
1 236433135 rs3834089 AT A 1505.67 PASS AC=2;AF=1.00;AN=2;DB;DP=37;FS=0.0;HRun=1;HaplotypeScore=90.2458;IndelType=D;MQ=61.16;MQ0=0;QD=40.69;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ERO1LB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327333 GT:AD:DP:GQ:PL 1/1:0,37:37:99:1548,111,0
1 236557771 rs966365 G A 1156.10 PASS AB=0.477;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.015;DB;DP=88;Dels=0.0;FS=7.212;HRun=0;HaplotypeScore=1.9877;MQ=58.95;MQ0=0;MQRankSum=0.022;QD=13.14;ReadPosRankSum=-0.048;SNPEFF_AMINO_ACID_CHANGE=M9I;SNPEFF_CODON_CHANGE=atG/atA;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_236557578_236557805;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EDARADD;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000334232 GT:AD:DP:GQ:PL 0/1:42,46:88:99:1186,0,1303
1 236557928 rs966364 G A 140.61 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.13;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=-0.452;QD=10.04;ReadPosRankSum=-0.194;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EDARADD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334232 GT:AD:DP:GQ:PL 0/1:8,6:14:99:171,0,287
1 236572475 rs669710 A G 561.98 PASS AB=0.542;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.569;DB;DP=48;Dels=0.0;FS=1.715;HRun=1;HaplotypeScore=0.0;MQ=59.52;MQ0=0;MQRankSum=0.735;QD=11.71;ReadPosRankSum=-0.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EDARADD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334232 GT:AD:DP:GQ:PL 0/1:26,22:48:99:592,0,850
1 236590629 rs636378 C T 298.12 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.041;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9332;MQ=58.45;MQ0=0;MQRankSum=-0.184;QD=19.87;ReadPosRankSum=-1.653;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EDARADD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334232 GT:AD:DP:GQ:PL 0/1:5,10:15:99:328,0,155
1 236590659 rs636048 G C 506.57 PASS AB=0.407;AC=1;AF=0.50;AN=2;BaseQRankSum=0.617;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=57.56;MQ0=0;MQRankSum=0.222;QD=18.76;ReadPosRankSum=0.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EDARADD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334232 GT:AD:DP:GQ:PL 0/1:11,16:27:99:537,0,366
1 236590816 rs635487 T G 476.61 PASS AB=0.393;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.564;DB;DP=28;Dels=0.0;FS=4.521;HRun=0;HaplotypeScore=0.0;MQ=59.17;MQ0=0;MQRankSum=0.094;QD=17.02;ReadPosRankSum=-0.423;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EDARADD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334232 GT:AD:DP:GQ:PL 0/1:11,17:28:99:507,0,242
1 236645440 rs603158 C T 95.70 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.573;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.5916;MQ=57.87;MQ0=0;MQRankSum=-1.203;QD=8.7;ReadPosRankSum=0.248;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EDARADD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334232 GT:AD:DP:GQ:PL 0/1:4,6:11:62.50:126,0,62
1 236645489 rs143242987 G A 290.86 PASS AB=0.421;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.181;DB;DP=19;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=15.31;ReadPosRankSum=0.181;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EDARADD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334232 GT:AD:DP:GQ:PL 0/1:8,11:19:99:321,0,230
1 236645670 rs604070 C T 639.94 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=2.168;DB;DP=60;Dels=0.0;FS=2.17;HRun=0;HaplotypeScore=0.9159;MQ=60.0;MQ0=0;MQRankSum=-0.147;QD=10.67;ReadPosRankSum=0.671;SNPEFF_AMINO_ACID_CHANGE=D113;SNPEFF_CODON_CHANGE=gaC/gaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_236645567_236648026;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EDARADD;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000359362 GT:AD:DP:GQ:PL 0/1:36,24:60:99:670,0,1089
1 236689568 rs2251642 A G 32.76 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.231;QD=6.55;ReadPosRankSum=-0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LGALS8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000238181 GT:AD:DP:GQ:PL 0/1:3,2:5:62.75:63,0,112
1 236700807 rs2737713 T A 366.35 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.29;MQ0=0;QD=33.3;SNPEFF_AMINO_ACID_CHANGE=F19Y;SNPEFF_CODON_CHANGE=tTt/tAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_236700797_236700885;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LGALS8;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000238181 GT:AD:DP:GQ:PL 1/1:0,11:11:30.10:399,30,0
1 236700823 rs1041934 T C 407.03 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.66;MQ0=0;QD=29.07;SNPEFF_AMINO_ACID_CHANGE=P24;SNPEFF_CODON_CHANGE=ccT/ccC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_236700797_236700885;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LGALS8;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000238181 GT:AD:DP:GQ:PL 1/1:0,14:14:36.10:440,36,0
1 236700857 rs1041935 C T 505.60 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.9;MQ0=0;QD=29.74;SNPEFF_AMINO_ACID_CHANGE=R36C;SNPEFF_CODON_CHANGE=Cgt/Tgt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_236700797_236700885;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LGALS8;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000238181 GT:AD:DP:GQ:PL 1/1:0,17:17:39.13:539,39,0
1 236700982 rs2737706 T C 49.41 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.7;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LGALS8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000529489 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
1 236702117 rs2244809 T G 362.41 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=54.44;MQ0=0;QD=27.88;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LGALS8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000529489 GT:AD:DP:GQ:PL 1/1:0,13:13:30.10:395,30,0
1 236702153 rs2244808 G A 526.28 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=54.95;MQ0=0;QD=27.7;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LGALS8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000529489 GT:AD:DP:GQ:PL 1/1:0,19:19:42.14:559,42,0
1 236702209 rs1041936 C T 286.58 PASS AB=0.357;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.142;DB;DP=28;Dels=0.0;FS=1.808;HRun=0;HaplotypeScore=1.9733;MQ=58.33;MQ0=0;MQRankSum=-0.088;QD=10.24;ReadPosRankSum=-0.029;SNPEFF_AMINO_ACID_CHANGE=S55;SNPEFF_CODON_CHANGE=agC/agT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_236702179_236702389;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LGALS8;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000238181 GT:AD:DP:GQ:PL 0/1:10,18:28:99:317,0,284
1 236702210 rs1041937 A G 689.64 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9733;MQ=58.45;MQ0=0;QD=22.99;SNPEFF_AMINO_ACID_CHANGE=M56V;SNPEFF_CODON_CHANGE=Atg/Gtg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_236702179_236702389;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LGALS8;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000238181 GT:AD:DP:GQ:PL 1/1:0,29:30:63.15:723,63,0
1 236702374 rs2472126 G C 339.28 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.08;MQ0=0;QD=15.42;SNPEFF_AMINO_ACID_CHANGE=L110;SNPEFF_CODON_CHANGE=ctG/ctC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_236702179_236702389;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LGALS8;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000238181 GT:AD:DP:GQ:PL 1/1:0,11:22:27.09:372,27,0
1 236702447 rs12744425 T G 300.86 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=53.81;MQ0=0;QD=27.35;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LGALS8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481485 GT:AD:DP:GQ:PL 1/1:0,11:11:30.06:334,30,0
1 236702450 rs12744427 T C 227.79 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=53.15;MQ0=0;QD=22.78;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LGALS8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481485 GT:AD:DP:GQ:PL 1/1:0,10:10:21.07:261,21,0
1 236702475 rs11807205 A G 125.11 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.95;MQ0=0;QD=31.28;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LGALS8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481485 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:158,12,0
1 236703687 rs2799413 T C 192.63 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.11;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LGALS8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481485 GT:AD:DP:GQ:PL 1/1:0,6:6:18.05:226,18,0
1 236703700 rs2244659 A G 129.77 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.44;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LGALS8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481485 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:162,12,0
1 236703734 rs2243405 T C 364.25 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.42;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LGALS8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481485 GT:AD:DP:GQ:PL 1/1:0,10:10:30.09:397,30,0
1 236703767 rs2758994 C T 905.03 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=39.35;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LGALS8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481485 GT:AD:DP:GQ:PL 1/1:0,23:23:69.23:938,69,0
1 236703832 rs3216037 CG C 1369.91 PASS AC=2;AF=1.00;AN=2;DB;DP=57;FS=0.0;HRun=8;HaplotypeScore=297.2447;IndelType=D;MQ=59.55;MQ0=0;QD=24.03;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LGALS8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481485 GT:AD:DP:GQ:PL 1/1:7,50:57:99:1412,147,0
1 236704813 rs2758169 A C 67.44 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=41.96;MQ0=0;QD=22.48;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LGALS8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481485 GT:AD:DP:GQ:PL 1/1:0,3:3:9.02:99,9,0
1 236704825 rs2853611 G A 35.74 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=41.96;MQ0=0;QD=11.91;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LGALS8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481485 GT:AD:DP:GQ:PL 1/1:0,3:3:6.01:67,6,0
1 236704888 rs144376212 ATAT A 228.42 PASS AC=2;AF=1.00;AN=2;DB;DP=6;FS=0.0;HRun=0;HaplotypeScore=116.2;IndelType=D;MQ=29.0;MQ0=0;QD=38.07;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LGALS8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481485 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:270,18,0
1 236704894 . A AGGTT 567.70 PASS AC=2;AF=1.00;AN=2;DP=9;FS=0.0;HRun=0;HaplotypeScore=134.5624;IndelType=I;MQ=33.88;MQ0=0;QD=63.08;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LGALS8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481485 GT:AD:DP:GQ:PL 1/1:3,6:9:24.08:610,24,0
1 236706352 rs2758174 A C 1754.56 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.33;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LGALS8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000406509 GT:AD:DP:GQ:PL 1/1:0,47:47:99:1788,138,0
1 236706371 rs2758175 A G 1388.31 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.6;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LGALS8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000406509 GT:AD:DP:GQ:PL 1/1:0,39:39:99:1421,108,0
1 236706425 rs2244267 G A 560.58 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.04;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LGALS8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000406509 GT:AD:DP:GQ:PL 1/1:0,16:16:45.15:594,45,0
1 236706467 rs2244261 C T 290.61 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.29;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LGALS8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000406509 GT:AD:DP:GQ:PL 1/1:0,9:9:24.08:324,24,0
1 236706671 rs2243530 T A 478 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.55;MQ0=0;QD=36.77;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LGALS8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000406509 GT:AD:DP:GQ:PL 1/1:0,13:13:39.12:511,39,0
1 236706780 rs2243527 C T 1581.22 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.68;MQ0=0;QD=34.37;SNPEFF_AMINO_ACID_CHANGE=R201C;SNPEFF_CODON_CHANGE=Cgt/Tgt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_236706729_236706806;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LGALS8;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000356238 GT:AD:DP:GQ:PL 1/1:0,46:46:99:1614,117,0
1 236706862 rs2243525 G C 1618.11 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.6;MQ0=0;QD=28.39;SNPEFF_AMINO_ACID_CHANGE=R125S;SNPEFF_CODON_CHANGE=agG/agC;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_236706860_236706948;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LGALS8;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000238181 GT:AD:DP:GQ:PL 1/1:0,57:57:99:1651,126,0
1 236707007 rs2799410 C T 255.47 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.071;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.495;QD=18.25;ReadPosRankSum=-0.212;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LGALS8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366583 GT:AD:DP:GQ:PL 0/1:4,10:14:78.61:285,0,79
1 236707036 rs2794786 A T 397.60 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.15;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LGALS8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366583 GT:AD:DP:GQ:PL 1/1:0,11:11:33.10:431,33,0
1 236707045 rs2799409 C T 259.22 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.4;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LGALS8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366583 GT:AD:DP:GQ:PL 1/1:0,8:8:24.04:292,24,0
1 236707816 rs1124907 C T 124.58 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.95;MQ0=0;QD=31.14;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366582 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:157,12,0
1 236708022 rs5781896 GT G 1899.52 PASS AC=2;AF=1.00;AN=2;DB;DP=87;FS=0.0;HRun=11;HaplotypeScore=418.6095;IndelType=D;MQ=60.09;MQ0=0;QD=21.83;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366582 GT:AD:DP:GQ:PL 1/1:8,79:87:99:1942,239,0
1 236708037 rs112790242 T C 1284.80 PASS AB=0.49;AC=1;AF=0.50;AN=2;BaseQRankSum=1.523;DB;DP=102;Dels=0.0;FS=1.608;HRun=1;HaplotypeScore=1.933;MQ=59.85;MQ0=0;MQRankSum=-0.967;QD=12.6;ReadPosRankSum=-0.311;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366582 GT:AD:DP:GQ:PL 0/1:50,52:102:99:1315,0,1459
1 236708224 rs2244063 A C 1302.39 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.36;MQ0=0;QD=36.18;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366582 GT:AD:DP:GQ:PL 1/1:0,36:36:99:1335,99,0
1 236708316 rs2758181 A G 181.56 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=49.37;MQ0=0;QD=30.26;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366582 GT:AD:DP:GQ:PL 1/1:0,6:6:18.05:214,18,0
1 236708318 rs12092255 T C 98.78 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=49.37;MQ0=0;MQRankSum=-0.72;QD=16.46;ReadPosRankSum=-1.38;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366582 GT:AD:DP:GQ:PL 0/1:2,4:6:58.03:129,0,58
1 236708357 rs60495052 C CCCTT 335.75 PASS AC=2;AF=1.00;AN=2;DB;DP=5;FS=0.0;HRun=0;HaplotypeScore=36.0748;IndelType=I;MQ=46.95;MQ0=0;QD=67.15;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366582 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:378,15,0
1 236711174 rs34118124 T TCA 295.56 PASS AC=2;AF=1.00;AN=2;DB;DP=7;FS=0.0;HRun=0;HaplotypeScore=20.7936;IndelType=I;MQ=60.0;MQ0=0;QD=42.22;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366581 GT:AD:DP:GQ:PL 1/1:1,6:7:18.06:337,18,0
1 236711297 rs2254823 A T 1443.05 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.52;MQ0=0;QD=30.06;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366581 GT:AD:DP:GQ:PL 1/1:0,48:48:99:1476,108,0
1 236711323 rs15701 T C 1446.17 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.48;MQ0=0;QD=32.87;SNPEFF_AMINO_ACID_CHANGE=Y245;SNPEFF_CODON_CHANGE=taT/taC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_236711312_236712302;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LGALS8;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000323938 GT:AD:DP:GQ:PL 1/1:0,44:44:99:1479,108,0
1 236711586 rs1160 G A 52.28 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.14;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366581 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
1 236714064 rs6989 A C 316.12 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=54.65;MQ0=0;QD=35.12;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LGALS8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000323938 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:349,27,0
1 236714292 rs71850332 T TTA 118.41 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=4.113;DB;DP=34;FS=28.709;HRun=0;HaplotypeScore=393.8367;IndelType=I;MQ=45.08;MQ0=0;MQRankSum=-1.39;QD=3.48;ReadPosRankSum=-4.171;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LGALS8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000323938 GT:AD:DP:GQ:PL 0/1:16,1:34:99:157,0,285
1 236714335 rs2254487 C T 122 PASS AB=0.45;AC=1;AF=0.50;AN=2;BaseQRankSum=3.065;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=42.04;MQ0=0;MQRankSum=0.352;QD=6.1;ReadPosRankSum=1.156;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LGALS8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000323938 GT:AD:DP:GQ:PL 0/1:9,11:20:15.54:152,0,16
1 236714384 rs2254483 G A 167.15 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=51.02;MQ0=0;QD=23.88;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LGALS8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000323938 GT:AD:DP:GQ:PL 1/1:0,7:7:15.05:200,15,0
1 236715517 rs3189 T C 518.07 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.47;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LGALS8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000323938 GT:AD:DP:GQ:PL 1/1:0,17:17:45.14:551,45,0
1 236716686 rs1475133 G A 88.57 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.52;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LGALS8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000323938 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:121,9,0
1 236716741 rs1475132 G A 169.48 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.9;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LGALS8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000323938 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:202,15,0
1 236716959 rs2275685 C T 1460.38 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.8;SNPEFF_AMINO_ACID_CHANGE=S1972;SNPEFF_CODON_CHANGE=tcG/tcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_236716881_236717039;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366581 GT:AD:DP:GQ:PL 1/1:0,49:49:99:1493,108,0
1 236717104 rs2275686 A G 825.70 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.89;MQ0=0;QD=39.32;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LGALS8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000323938 GT:AD:DP:GQ:PL 1/1:0,21:21:63.20:859,63,0
1 236717926 rs2275687 T C 1685.59 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.2;MQ0=0;QD=29.06;SNPEFF_AMINO_ACID_CHANGE=E1936G;SNPEFF_CODON_CHANGE=gAa/gGa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_236717898_236718052;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366581 GT:AD:DP:GQ:PL 1/1:0,58:58:99:1719,132,0
1 236718421 rs6668716 G C 776.90 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LGALS8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366584 GT:AD:DP:GQ:PL 1/1:0,21:21:57.19:810,57,0
1 236718524 rs6668848 G C 1388.15 PASS AB=0.472;AC=1;AF=0.50;AN=2;BaseQRankSum=1.188;DB;DP=89;Dels=0.0;FS=10.431;HRun=0;HaplotypeScore=1.841;MQ=60.0;MQ0=0;MQRankSum=0.021;QD=15.6;ReadPosRankSum=0.579;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LGALS8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366584 GT:AD:DP:GQ:PL 0/1:42,47:89:99:1418,0,1376
1 236718561 rs6668926 G A 4238.06 PASS AC=2;AF=1.00;AN=2;DB;DP=131;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;QD=32.35;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LGALS8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366584 GT:AD:DP:GQ:PL 1/1:0,131:131:99:4238,313,0
1 236718620 rs1126627 T C 4062.65 PASS AC=2;AF=1.00;AN=2;DB;DP=120;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.86;SNPEFF_AMINO_ACID_CHANGE=N1886D;SNPEFF_CODON_CHANGE=Aac/Gac;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_236718596_236718764;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366581 GT:AD:DP:GQ:PL 1/1:0,120:120:99:4063,310,0
1 236719135 rs1885532 T C 2501.96 PASS AC=2;AF=1.00;AN=2;DB;DP=72;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9789;MQ=60.0;MQ0=0;QD=34.75;SNPEFF_AMINO_ACID_CHANGE=E1792;SNPEFF_CODON_CHANGE=gaA/gaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_236719105_236719239;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366581 GT:AD:DP:GQ:PL 1/1:2,70:72:99:2535,199,0
1 236719193 rs1885533 A G 1584.30 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.21;SNPEFF_AMINO_ACID_CHANGE=V1773A;SNPEFF_CODON_CHANGE=gTg/gCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_236719105_236719239;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366581 GT:AD:DP:GQ:PL 1/1:0,45:45:99:1617,123,0
1 236719259 rs1885534 G A 436.25 PASS AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.716;DB;DP=38;Dels=0.0;FS=7.476;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.658;QD=11.48;ReadPosRankSum=-0.745;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LGALS8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366584 GT:AD:DP:GQ:PL 0/1:20,18:38:99:466,0,677
1 236719688 rs1407518 A G 212.02 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.34;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LGALS8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000526589 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:245,18,0
1 236720467 rs56351858 G A 237.94 PASS AB=0.591;AC=1;AF=0.50;AN=2;BaseQRankSum=1.803;DB;DP=22;Dels=0.0;FS=2.103;HRun=0;HaplotypeScore=0.0;MQ=58.95;MQ0=0;MQRankSum=-0.801;QD=10.82;ReadPosRankSum=-0.401;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LGALS8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000526589 GT:AD:DP:GQ:PL 0/1:13,9:22:99:268,0,354
1 236720761 rs2799404 T C 242.13 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.27;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LGALS8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000526589 GT:AD:DP:GQ:PL 1/1:0,8:8:21.07:275,21,0
1 236720833 rs2759005 C T 51.22 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.61;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LGALS8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000526589 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
1 236721341 rs2759006 C T 43.42 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.71;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366581 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:75,6,0
1 236721370 rs2759007 G C 128.36 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.67;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366581 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:161,12,0
1 236721610 rs2275688 G A 1368.09 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.972;DB;DP=43;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.734;MQ=58.92;MQ0=0;MQRankSum=-0.718;QD=31.82;ReadPosRankSum=-1.225;SNPEFF_AMINO_ACID_CHANGE=L1630;SNPEFF_CODON_CHANGE=Ctg/Ttg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_236721537_236721829;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366581 GT:AD:DP:GQ:PL 1/1:1,42:43:73.72:1401,74,0
1 236721660 rs2275689 T C 2044.68 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.84;MQ0=0;QD=34.08;SNPEFF_AMINO_ACID_CHANGE=N1613S;SNPEFF_CODON_CHANGE=aAc/aGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_236721537_236721829;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366581 GT:AD:DP:GQ:PL 1/1:0,60:60:99:2078,153,0
1 236721731 rs819431 T C 2045.31 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.62;MQ0=0;QD=34.09;SNPEFF_AMINO_ACID_CHANGE=A1589;SNPEFF_CODON_CHANGE=gcA/gcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_236721537_236721829;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366581 GT:AD:DP:GQ:PL 1/1:0,60:60:99:2078,162,0
1 236722182 rs819432 A T 445.30 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.11;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366581 GT:AD:DP:GQ:PL 1/1:0,12:12:36.12:478,36,0
1 236722489 rs2146122 C T 821.84 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=59.14;MQ0=0;QD=30.44;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366581 GT:AD:DP:GQ:PL 1/1:0,27:27:66.21:855,66,0
1 236723177 rs10754576 G A 247.36 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.799;DB;DP=48;Dels=0.0;FS=4.102;HRun=0;HaplotypeScore=0.9999;MQ=58.55;MQ0=0;MQRankSum=-0.705;QD=5.15;ReadPosRankSum=-0.705;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366581 GT:AD:DP:GQ:PL 0/1:30,18:48:99:277,0,789
1 236723178 rs10754577 C A 252.83 PASS AB=0.581;AC=1;AF=0.50;AN=2;BaseQRankSum=0.892;DB;DP=47;Dels=0.0;FS=3.979;HRun=1;HaplotypeScore=0.9999;MQ=58.51;MQ0=0;MQRankSum=-1.282;QD=5.38;ReadPosRankSum=-1.087;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366581 GT:AD:DP:GQ:PL 0/1:25,18:47:99:283,0,762
1 236724504 rs1077439 G A 1539.85 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=59.62;MQ0=0;QD=31.43;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366581 GT:AD:DP:GQ:PL 1/1:0,48:49:99:1573,126,0
1 236724605 rs1077438 G T 2315.44 PASS AC=2;AF=1.00;AN=2;DB;DP=69;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.56;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366581 GT:AD:DP:GQ:PL 1/1:0,69:69:99:2348,172,0
1 236724715 rs1077437 T G 419.57 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.29;MQ0=0;QD=38.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366581 GT:AD:DP:GQ:PL 1/1:0,11:11:33.11:453,33,0
1 236724766 rs1077436 C T 114.18 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.16;MQ0=0;QD=28.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366581 GT:AD:DP:GQ:PL 1/1:0,4:4:12.02:147,12,0
1 236728159 rs115298515 G A 41.52 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=13.84;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366581 GT:AD:DP:GQ:PL 0/1:1,2:3:32.20:72,0,32
1 236729867 rs2758172 C T 137.06 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=0.956;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.956;QD=17.13;ReadPosRankSum=1.517;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366581 GT:AD:DP:GQ:PL 0/1:3,5:8:99:167,0,102
1 236735939 rs2853602 T C 1186.28 PASS AB=0.586;AC=1;AF=0.50;AN=2;BaseQRankSum=1.088;DB;DP=99;Dels=0.0;FS=14.25;HRun=0;HaplotypeScore=1.4725;MQ=59.77;MQ0=0;MQRankSum=1.312;QD=11.98;ReadPosRankSum=1.391;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000490339 GT:AD:DP:GQ:PL 0/1:58,41:99:99:1216,0,2030
1 236739416 rs2115740 C T 874.13 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.97;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366581 GT:AD:DP:GQ:PL 1/1:0,25:25:72.20:907,72,0
1 236739866 rs2794773 A T 294.73 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.75;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366581 GT:AD:DP:GQ:PL 1/1:0,9:9:27.06:328,27,0
1 236739888 rs2853596 T A 192.43 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366581 GT:AD:DP:GQ:PL 1/1:0,6:6:18.04:225,18,0
1 236740039 rs6658793 G C 993.94 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.27;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366581 GT:AD:DP:GQ:PL 1/1:0,29:29:75.24:1027,75,0
1 236740451 rs59868927 A G 50.30 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.15;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366581 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
1 236744424 rs35257076 A AT 388.88 PASS AC=2;AF=1.00;AN=2;DB;DP=13;FS=0.0;HRun=9;HaplotypeScore=31.6553;IndelType=I;MQ=60.0;MQ0=0;QD=29.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366581 GT:AD:DP:GQ:PL 1/1:2,11:13:39.11:431,39,0
1 236744712 rs4518892 C A 2270.23 HaplotypeScoreFilter13 AC=2;AF=1.00;AN=2;DB;DP=82;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=19.3152;MQ=57.62;MQ0=0;QD=27.69;SNPEFF_AMINO_ACID_CHANGE=V855;SNPEFF_CODON_CHANGE=gtG/gtT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_236744522_236744714;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366581 GT:AD:DP:GQ:PL 1/1:0,82:82:99:2303,184,0
1 236744720 rs35716006 T TA 355.89 PASS AB=0.716;AC=1;AF=0.50;AN=2;BaseQRankSum=0.149;DB;DP=68;FS=0.0;HRun=14;HaplotypeScore=578.5789;IndelType=I;MQ=56.93;MQ0=0;MQRankSum=0.636;QD=5.23;ReadPosRankSum=-2.34;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366581 GT:AD:DP:GQ:PL 0/1:41,24:68:99:395,0,265
1 236744854 rs12065886 T C 233.08 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366581 GT:AD:DP:GQ:PL 1/1:0,7:7:21.06:266,21,0
1 236745756 rs2853591 A G 61.51 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=40.54;MQ0=0;QD=20.5;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366581 GT:AD:DP:GQ:PL 1/1:0,3:3:9.02:94,9,0
1 236746275 rs2794769 G C 2318.91 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;QD=36.81;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366581 GT:AD:DP:GQ:PL 1/1:0,63:63:99:2352,175,0
1 236746443 rs2794768 C T 5886.24 PASS AC=2;AF=1.00;AN=2;DB;DP=182;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=5.581;MQ=59.75;MQ0=0;QD=32.34;SNPEFF_AMINO_ACID_CHANGE=V765;SNPEFF_CODON_CHANGE=gtG/gtA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_236746313_236746496;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366581 GT:AD:DP:GQ:PL 1/1:0,182:182:99:5886,433,0
1 236746511 rs16833972 G A 1303.57 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.834;DB;DP=102;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=3.545;MQ=59.55;MQ0=0;MQRankSum=-1.224;QD=12.78;ReadPosRankSum=-0.951;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366581 GT:AD:DP:GQ:PL 0/1:55,46:102:99:1334,0,1964
1 236748433 rs3738535 G A 1167.40 PASS AB=0.349;AC=1;AF=0.50;AN=2;BaseQRankSum=4.232;DB;DP=63;Dels=0.0;FS=10.337;HRun=1;HaplotypeScore=0.9947;MQ=59.63;MQ0=0;MQRankSum=0.31;QD=18.53;ReadPosRankSum=-1.002;SNPEFF_AMINO_ACID_CHANGE=L711;SNPEFF_CODON_CHANGE=ctC/ctT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_236748325_236748516;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366581 GT:AD:DP:GQ:PL 0/1:22,41:63:99:1197,0,654
1 236748505 rs1006456 T C 1795.88 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=59.56;MQ0=0;QD=34.54;SNPEFF_AMINO_ACID_CHANGE=L687;SNPEFF_CODON_CHANGE=ttA/ttG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_236748325_236748516;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366581 GT:AD:DP:GQ:PL 1/1:0,52:52:99:1829,132,0
1 236748630 rs1006455 C T 113.66 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.73;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366581 GT:AD:DP:GQ:PL 1/1:0,5:5:12.02:146,12,0
1 236749022 rs10925166 G A 189.91 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=57.87;MQ0=0;QD=17.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366581 GT:AD:DP:GQ:PL 1/1:0,11:11:21.04:223,21,0
1 236749026 rs10925167 T A 143.57 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.393;DB;DP=11;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=57.87;MQ0=0;MQRankSum=1.393;QD=13.05;ReadPosRankSum=1.393;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366581 GT:AD:DP:GQ:PL 1/1:1,10:11:18.02:176,18,0
1 236749348 rs2794764 C T 235.42 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.63;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366581 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:268,21,0
1 236749433 rs2799421 A C 163.79 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.76;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366581 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:197,15,0
1 236749451 rs34454872 TA T 346.75 PASS AC=2;AF=1.00;AN=2;DB;DP=10;FS=0.0;HRun=2;HaplotypeScore=43.8467;IndelType=D;MQ=60.0;MQ0=0;QD=34.67;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366581 GT:AD:DP:GQ:PL 1/1:0,10:10:30.10:389,30,0
1 236749626 rs3738541 C T 906.93 PASS AB=0.573;AC=1;AF=0.50;AN=2;BaseQRankSum=2.695;DB;DP=75;Dels=0.0;FS=3.313;HRun=0;HaplotypeScore=2.6653;MQ=59.69;MQ0=0;MQRankSum=0.106;QD=12.09;ReadPosRankSum=-0.296;SNPEFF_AMINO_ACID_CHANGE=T614;SNPEFF_CODON_CHANGE=acG/acA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_236749541_236749752;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366581 GT:AD:DP:GQ:PL 0/1:43,32:75:99:937,0,1290
1 236749649 rs2794763 T C 1267.20 PASS AB=0.413;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.44;DB;DP=80;Dels=0.0;FS=1.887;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.645;QD=15.84;ReadPosRankSum=-1.28;SNPEFF_AMINO_ACID_CHANGE=M607V;SNPEFF_CODON_CHANGE=Atg/Gtg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_236749541_236749752;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366581 GT:AD:DP:GQ:PL 0/1:33,47:80:99:1297,0,1062
1 236749817 rs2799420 C T 754.90 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.75;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366581 GT:AD:DP:GQ:PL 1/1:0,20:20:60.19:788,60,0
1 236755170 rs2794760 G T 691.81 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.41;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000483073 GT:AD:DP:GQ:PL 1/1:0,19:19:54.18:725,54,0
1 236755427 rs2794759 A G 793.14 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;QD=31.73;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000483073 GT:AD:DP:GQ:PL 1/1:0,25:25:66.19:826,66,0
1 236755814 rs2794757 G A 683.43 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.06;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000483073 GT:AD:DP:GQ:PL 1/1:0,22:22:51.17:716,51,0
1 236755837 rs2564739 C T 826.50 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.61;SNPEFF_AMINO_ACID_CHANGE=R430;SNPEFF_CODON_CHANGE=agG/agA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_236755823_236755933;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366581 GT:AD:DP:GQ:PL 1/1:0,27:27:63.21:860,63,0
1 236755937 rs71766566 TA T 407.27 PASS AC=2;AF=1.00;AN=2;DB;DP=23;FS=0.0;HRun=11;HaplotypeScore=60.497;IndelType=D;MQ=58.99;MQ0=0;QD=17.71;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000483073 GT:AD:DP:GQ:PL 1/1:4,18:23:55.96:449,56,0
1 236757121 rs2794755 G C 207.23 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.54;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000483073 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:240,18,0
1 236757200 rs2564738 A G 577.82 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.99;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000483073 GT:AD:DP:GQ:PL 1/1:0,17:17:45.15:611,45,0
1 236757229 rs2794754 G A 952.07 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.62;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000483073 GT:AD:DP:GQ:PL 1/1:0,26:26:75.23:985,75,0
1 236757507 rs2794753 A G 398.95 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=1.083;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.794;QD=26.6;ReadPosRankSum=-0.072;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000483073 GT:AD:DP:GQ:PL 0/1:3,12:15:75.66:429,0,76
1 236757581 rs16834028 T A 70.69 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.358;QD=14.14;ReadPosRankSum=1.231;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000483073 GT:AD:DP:GQ:PL 0/1:2,3:5:68.94:101,0,69
1 236758887 rs2794751 T C 846.41 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.86;SNPEFF_AMINO_ACID_CHANGE=H348R;SNPEFF_CODON_CHANGE=cAt/cGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_236758840_236758973;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366581 GT:AD:DP:GQ:PL 1/1:0,25:25:66.21:879,66,0
1 236759060 rs2794750 T C 684.08 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9983;MQ=58.78;MQ0=0;QD=36.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000483073 GT:AD:DP:GQ:PL 1/1:0,19:19:54.18:717,54,0
1 236759964 rs2758163 G T 126.10 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.53;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366581 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:159,12,0
1 236760368 rs2564737 T C 165.22 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.893;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.35;QD=7.87;ReadPosRankSum=0.887;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366581 GT:AD:DP:GQ:PL 0/1:12,9:21:99:195,0,429
1 236762657 rs17585293 A G 66.37 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.12;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366579 GT:AD:DP:GQ:PL 1/1:0,3:3:9.02:98,9,0
1 236767176 rs1529541 C G 214.13 PASS AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.088;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=11.9297;MQ=57.53;MQ0=0;MQRankSum=-1.2;QD=11.27;ReadPosRankSum=-1.821;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366579 GT:AD:DP:GQ:PL 0/1:10,9:19:99:244,0,361
1 236767178 rs5781902 AG A 551.49 PASS AC=2;AF=1.00;AN=2;DB;DP=20;FS=0.0;HRun=4;HaplotypeScore=149.4016;IndelType=D;MQ=57.66;MQ0=0;QD=27.57;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366579 GT:AD:DP:GQ:PL 1/1:12,8:20:59.96:594,60,0
1 236767181 . G GA 171.40 PASS AB=0.71;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.289;DP=22;FS=0.0;HRun=0;HaplotypeScore=200.8196;IndelType=I;MQ=57.87;MQ0=0;MQRankSum=1.514;QD=7.79;ReadPosRankSum=1.021;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366579 GT:AD:DP:GQ:PL 0/1:12,9:22:15.52:210,0,16
1 236767330 rs10802551 A G 523.33 PASS AB=0.463;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.677;DB;DP=41;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.44;MQ0=0;MQRankSum=0.081;QD=12.76;ReadPosRankSum=0.542;SNPEFF_AMINO_ACID_CHANGE=S22;SNPEFF_CODON_CHANGE=tcT/tcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_236767254_236767427;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366579 GT:AD:DP:GQ:PL 0/1:19,22:41:99:553,0,569
1 236849952 rs138279482 C T 153.14 PASS AB=0.632;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.986;DB;DP=19;Dels=0.0;FS=9.425;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.296;QD=8.06;ReadPosRankSum=0.718;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACTN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000492634 GT:AD:DP:GQ:PL 0/1:12,7:19:99:183,0,363
1 236881403 rs2275399 C T 237.50 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.733;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.91;QD=13.19;ReadPosRankSum=-1.733;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACTN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366578 GT:AD:DP:GQ:PL 0/1:10,8:18:99:267,0,346
1 236882110 rs1341865 G A 497.99 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.2;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACTN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366578 GT:AD:DP:GQ:PL 1/1:0,15:15:42.13:531,42,0
1 236882303 rs1341864 T C 1103.85 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.555;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=59.53;MQ0=0;MQRankSum=0.578;QD=27.6;ReadPosRankSum=-1.2;SNPEFF_AMINO_ACID_CHANGE=I117;SNPEFF_CODON_CHANGE=atT/atC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_236882194_236882313;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACTN2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366578 GT:AD:DP:GQ:PL 1/1:1,39:40:90.25:1137,90,0
1 236883240 rs1768053 T C 36.20 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=12.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACTN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366578 GT:AD:DP:GQ:PL 1/1:0,3:3:6.01:67,6,0
1 236883421 rs1341863 C T 2405.29 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.37;MQ0=0;QD=36.44;SNPEFF_AMINO_ACID_CHANGE=N126;SNPEFF_CODON_CHANGE=aaC/aaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_236883405_236883491;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACTN2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366578 GT:AD:DP:GQ:PL 1/1:0,66:66:99:2438,178,0
1 236883564 rs1341862 G A 776.40 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.97;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACTN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366578 GT:AD:DP:GQ:PL 1/1:0,20:21:60.20:809,60,0
1 236883686 rs1341861 G T 133.38 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.34;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACTN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366578 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:166,12,0
1 236894647 rs819640 G A 312.85 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.184;DB;DP=24;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=59.03;MQ0=0;MQRankSum=-0.895;QD=13.04;ReadPosRankSum=-1.126;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACTN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366578 GT:AD:DP:GQ:PL 0/1:12,12:24:99:343,0,432
1 236902532 rs57403310 ATT A 595.78 PASS AB=0.671;AC=1;AF=0.50;AN=2;BaseQRankSum=0.238;DB;DP=53;FS=0.0;HRun=12;HaplotypeScore=463.7183;IndelType=D;MQ=56.64;MQ0=0;MQRankSum=0.155;QD=11.24;ReadPosRankSum=-1.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACTN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366578 GT:AD:DP:GQ:PL 0/1:26,25:53:99:635,0,751
1 236902560 rs7527525 C T 1191.51 PASS AC=2;AF=1.00;AN=2;DB;DP=84;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=5.6462;MQ=56.62;MQ0=0;QD=14.18;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACTN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366578 GT:AD:DP:GQ:PL 1/1:0,40:84:99:1225,99,0
1 236902594 rs2288601 C G 3949.06 PASS AC=2;AF=1.00;AN=2;DB;DP=119;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.8808;MQ=57.63;MQ0=0;QD=33.19;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACTN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366578 GT:AD:DP:GQ:PL 1/1:0,119:119:99:3949,304,0
1 236902865 rs2288602 A C 394.84 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.9;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACTN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366578 GT:AD:DP:GQ:PL 1/1:0,11:12:33.11:428,33,0
1 236902955 rs7544174 T C 50.05 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.02;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACTN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366578 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
1 236910863 rs10802557 T C 36.35 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=0.72;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9578;MQ=60.0;MQ0=0;MQRankSum=-0.72;QD=5.19;ReadPosRankSum=1.38;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACTN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000492634 GT:AD:DP:GQ:PL 0/1:4,3:7:66.35:66,0,145
1 236912286 rs2297956 G A 335.70 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.57;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACTN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000492101 GT:AD:DP:GQ:PL 1/1:0,10:10:27.09:369,27,0
1 236914576 rs3738544 C T 79.36 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=51.07;MQ0=0;QD=26.45;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACTN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000492101 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:111,9,0
1 236914610 rs3738545 G C 124.91 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.44;MQ0=0;QD=31.23;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACTN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000492101 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:157,12,0
1 236924506 rs2282366 A G 794.05 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.13;MQ0=0;QD=31.76;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACTN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366578 GT:AD:DP:GQ:PL 1/1:0,25:25:63.19:827,63,0
1 236974124 rs4659724 G A 51.64 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.82;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366577 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:83,6,0
1 236978992 rs5781924 T TTCTG 2348.18 PASS AC=2;AF=1.00;AN=2;DB;DP=34;FS=0.0;HRun=0;HaplotypeScore=108.7196;IndelType=I;MQ=53.12;MQ0=0;QD=69.06;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366577 GT:AD:DP:GQ:PL 1/1:9,25:34:90.31:2390,90,0
1 236979597 rs3795708 A G 396.34 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.03;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366577 GT:AD:DP:GQ:PL 1/1:0,11:11:33.08:429,33,0
1 236988593 rs67356179 A AT 1460.29 PASS AB=0.653;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.687;DB;DP=81;FS=3.434;HRun=5;HaplotypeScore=180.2351;IndelType=I;MQ=61.32;MQ0=0;MQRankSum=1.312;QD=18.03;ReadPosRankSum=-2.208;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366577 GT:AD:DP:GQ:PL 0/1:38,43:81:99:1499,0,825
1 236989891 rs1856769 C T 49.99 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366577 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
1 237001926 rs3820568 A G 976.25 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.11;MQ0=0;QD=37.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366576 GT:AD:DP:GQ:PL 1/1:0,25:26:75.24:1009,75,0
1 237002032 rs55748381 A C 186.84 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366576 GT:AD:DP:GQ:PL 1/1:0,6:6:18.03:220,18,0
1 237013914 rs35913043 CTGA C 490.91 PASS AC=2;AF=1.00;AN=2;DB;DP=12;FS=0.0;HRun=0;HaplotypeScore=50.5411;IndelType=D;MQ=54.82;MQ0=0;QD=40.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366576 GT:AD:DP:GQ:PL 1/1:1,11:12:33.11:533,33,0
1 237015628 rs2275568 C T 155.66 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.13;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366576 GT:AD:DP:GQ:PL 1/1:0,5:5:15.04:188,15,0
1 237023333 rs10925254 T C 337.12 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.04;MQ0=0;QD=28.09;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366576 GT:AD:DP:GQ:PL 1/1:0,12:12:30.09:370,30,0
1 237023394 rs45534439 A G 53.75 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=39.12;MQ0=0;QD=13.44;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366576 GT:AD:DP:GQ:PL 1/1:0,4:4:9.01:86,9,0
1 237024414 . G T 174.41 PASS AB=0.308;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.031;DP=26;Dels=0.0;FS=8.113;HRun=16;HaplotypeScore=4.1753;MQ=44.81;MQ0=0;MQRankSum=-2.419;QD=6.71;ReadPosRankSum=2.603;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366576 GT:AD:DP:GQ:PL 0/1:8,18:26:99:204,0,210
1 237037998 rs150727404 CTT C 645.37 PASS AC=2;AF=1.00;AN=2;DB;DP=22;FS=0.0;HRun=10;HaplotypeScore=127.5453;IndelType=D;MQ=60.26;MQ0=0;QD=28.06;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366576 GT:AD:DP:GQ:PL 1/1:3,13:22:63.15:687,63,0
1 237048562 rs2275566 G A 504.71 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.05;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366576 GT:AD:DP:GQ:PL 1/1:0,14:14:39.13:538,39,0
1 237049453 rs41295948 C T 63.34 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.537;DB;DP=6;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=10.56;ReadPosRankSum=-0.988;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366576 GT:AD:DP:GQ:PL 0/1:3,3:6:93.33:93,0,108
1 237052792 rs3768150 T A 241.80 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.54;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366576 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:275,21,0
1 237054569 rs2229276 A G 2166.09 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.65;MQ0=0;QD=32.82;SNPEFF_AMINO_ACID_CHANGE=A1048;SNPEFF_CODON_CHANGE=gcA/gcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_237054433_237054629;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTR;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366577 GT:AD:DP:GQ:PL 1/1:0,66:66:99:2199,172,0
1 237057608 rs2297965 G A 936.12 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.1567;MQ=58.5;MQ0=0;QD=33.43;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366576 GT:AD:DP:GQ:PL 1/1:0,28:28:72.21:969,72,0
1 237058744 rs12070777 C A 220.35 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.48;SNPEFF_AMINO_ACID_CHANGE=R1018;SNPEFF_CODON_CHANGE=cgC/cgA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_237058658_237058850;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTR;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000417743 GT:AD:DP:GQ:PL 1/1:0,7:7:21.03:253,21,0
1 237058828 rs1131449 C T 114.83 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.71;SNPEFF_AMINO_ACID_CHANGE=L1046;SNPEFF_CODON_CHANGE=ctC/ctT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_237058658_237058850;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTR;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000417743 GT:AD:DP:GQ:PL 1/1:0,4:4:12.02:147,12,0
1 237060433 rs3820571 G T 2876.99 PASS AC=2;AF=1.00;AN=2;DB;DP=82;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.72;MQ0=0;QD=35.09;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366576 GT:AD:DP:GQ:PL 1/1:0,82:82:99:2910,220,0
1 237061056 rs2853522 A C 389.29 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.44;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000417743 GT:AD:DP:GQ:PL 1/1:0,12:12:33.08:422,33,0
1 237167704 rs190219393 C T 334.35 PASS AB=0.622;AC=1;AF=0.50;AN=2;BaseQRankSum=3.755;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.416;QD=9.04;ReadPosRankSum=-1.647;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AL359259.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464121 GT:AD:DP:GQ:PL 0/1:23,14:37:99:364,0,673
1 237434181 rs7526874 G A 52.28 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
1 237504708 rs2787102 A G 40.54 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=13.51;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 0/1:1,2:3:32.20:71,0,32
1 237504759 rs10925374 T C 45.87 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.93;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:77,6,0
1 237516073 rs10802607 T C 497.01 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=2.219;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.039;QD=23.67;ReadPosRankSum=-1.596;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 0/1:6,15:21:99:527,0,183
1 237519137 rs10802608 T A 280.99 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=2.77;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.059;QD=18.73;ReadPosRankSum=0.412;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 0/1:6,9:15:99:311,0,199
1 237519165 rs10925382 G T 315.96 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.248;DB;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.116;QD=14.36;ReadPosRankSum=0.328;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 0/1:11,11:22:99:346,0,371
1 237540615 rs10925391 A C 2507 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.66;MQ0=0;QD=37.42;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 1/1:0,67:67:99:2540,184,0
1 237551241 rs71561868 G GTC 398.38 PASS AC=2;AF=1.00;AN=2;DB;DP=8;FS=0.0;HRun=0;HaplotypeScore=17.9716;IndelType=I;MQ=60.0;MQ0=0;QD=49.8;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:440,24,0
1 237551376 rs10754602 T A 1292.27 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.5;MQ0=0;QD=28.09;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 1/1:0,46:46:99:1325,105,0
1 237580606 rs6673182 G T 91.07 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.21;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 1/1:0,5:5:9.03:123,9,0
1 237580612 rs6673187 G C 79.85 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=19.96;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:112,9,0
1 237586196 rs16835235 C T 68.39 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.758;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.495;QD=4.88;ReadPosRankSum=-1.202;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 0/1:10,4:14:98.38:98,0,376
1 237586384 rs16835237 T C 2657.43 PASS AB=0.453;AC=1;AF=0.50;AN=2;BaseQRankSum=0.694;DB;DP=179;Dels=0.0;FS=2.88;HRun=0;HaplotypeScore=2.7258;MQ=59.27;MQ0=0;MQRankSum=0.664;QD=14.85;ReadPosRankSum=-0.429;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 0/1:81,98:179:99:2687,0,2432
1 237617757 rs3765097 C T 6298.65 PASS AC=2;AF=1.00;AN=2;DB;DP=187;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.63;MQ0=0;QD=33.68;SNPEFF_AMINO_ACID_CHANGE=S437;SNPEFF_CODON_CHANGE=agC/agT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_237617691_237617874;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000542537 GT:AD:DP:GQ:PL 1/1:0,187:187:99:6299,475,0
1 237618034 rs4142933 G A 240.12 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:273,21,0
1 237619875 rs71758778 A AT 1766.47 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.876;DB;DP=120;FS=0.0;HRun=14;HaplotypeScore=677.2774;IndelType=I;MQ=56.75;MQ0=0;MQRankSum=0.303;QD=14.72;ReadPosRankSum=0.598;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 1/1:24,91:120:99:1809,127,0
1 237620049 rs2045955 T C 4341.42 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.732;DB;DP=133;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=58.7;MQ0=0;MQRankSum=0.433;QD=32.64;ReadPosRankSum=-0.433;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 1/1:1,131:133:99:4341,288,0
1 237632285 rs35662567 A AT 1530.17 PASS AC=2;AF=1.00;AN=2;DB;DP=33;FS=0.0;HRun=0;HaplotypeScore=60.9802;IndelType=I;MQ=58.93;MQ0=0;QD=46.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 1/1:0,33:33:99:1572,99,0
1 237632595 rs71561877 T TGTG 1330.93 PASS AC=2;AF=1.00;AN=2;DB;DP=24;FS=0.0;HRun=0;HaplotypeScore=178.0345;IndelType=I;MQ=43.23;MQ0=0;QD=55.46;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 1/1:3,21:24:66.23:1373,66,0
1 237632670 rs10925426 C T 236.43 PASS AB=0.125;AC=1;AF=0.50;AN=2;BaseQRankSum=0.747;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=62.65;MQ0=0;MQRankSum=-0.747;QD=29.55;ReadPosRankSum=0.747;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 0/1:1,7:8:15.93:266,0,16
1 237670140 rs2618702 A G 3046.31 PASS AC=2;AF=1.00;AN=2;DB;DP=87;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.5226;MQ=59.74;MQ0=0;QD=35.02;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 1/1:0,87:87:99:3079,232,0
1 237675150 rs57409517 A AG 628.06 PASS AB=0.742;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.46;DB;DP=49;FS=9.003;HRun=0;HaplotypeScore=405.0606;IndelType=I;MQ=49.59;MQ0=0;MQRankSum=3.546;QD=12.82;ReadPosRankSum=1.374;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 0/1:32,16:49:99:667,0,419
1 237675150 rs57830998 A G 126.59 HaplotypeScoreFilter13 AB=0.792;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.216;DB;DP=48;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=22.9621;MQ=49.35;MQ0=0;MQRankSum=1.434;QD=2.64;ReadPosRankSum=-0.063;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 0/1:38,10:48:99:157,0,544
1 237675163 rs67622164 G A 149.02 PASS AB=0.629;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.104;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9734;MQ=50.55;MQ0=0;MQRankSum=-3.013;QD=4.26;ReadPosRankSum=-0.917;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 0/1:22,13:35:99:179,0,690
1 237675255 rs2618651 T C 328.80 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.88;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 1/1:0,10:10:27.09:362,27,0
1 237693471 rs2805447 T C 52.05 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.14;MQ0=0;QD=26.02;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:83,6,0
1 237693479 rs2779364 C T 41.54 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.14;MQ0=0;QD=20.77;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:73,6,0
1 237693921 rs2779365 A G 59.73 PASS AB=0.727;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.382;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=0.715;QD=5.43;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 0/1:8,3:11:89.73:90,0,295
1 237711644 rs2618661 T C 587.94 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.45;MQ0=0;QD=39.2;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 1/1:0,15:15:45.15:621,45,0
1 237711797 rs2253273 A G 2960.31 PASS AC=2;AF=1.00;AN=2;DB;DP=88;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7853;MQ=60.0;MQ0=0;QD=33.64;SNPEFF_AMINO_ACID_CHANGE=S975;SNPEFF_CODON_CHANGE=tcA/tcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_237711731_237711890;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000542537 GT:AD:DP:GQ:PL 1/1:0,88:88:99:2993,235,0
1 237729774 rs2248295 G A 376.19 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.62;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 1/1:0,10:10:30.10:409,30,0
1 237730124 rs2805390 A G 2288.36 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.63;MQ0=0;QD=36.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 1/1:0,62:62:99:2321,175,0
1 237730169 rs2779401 C T 1173.76 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=59.32;MQ0=0;QD=34.52;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 1/1:0,33:34:99:1207,99,0
1 237732332 rs2618717 C T 143.71 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.495;DB;DP=8;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.9998;MQ=60.0;MQ0=0;MQRankSum=0.922;QD=17.96;ReadPosRankSum=-0.922;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 0/1:2,6:8:64.58:174,0,65
1 237732395 rs2805396 G A 232.53 PASS AB=0.412;AC=1;AF=0.50;AN=2;BaseQRankSum=1.588;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.3302;MQ=60.0;MQ0=0;MQRankSum=-0.212;QD=13.68;ReadPosRankSum=-0.847;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 0/1:7,10:17:99:263,0,171
1 237755348 rs2779431 T C 249.13 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 1/1:0,8:8:21.07:282,21,0
1 237788844 rs571092 T C 1032.58 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.61;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 1/1:0,29:29:81.25:1066,81,0
1 237788862 rs571026 T C 1255.97 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.94;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 1/1:0,34:34:96.30:1289,96,0
1 237789317 rs512336 A G 44.35 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.18;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:76,6,0
1 237794603 rs1759123 A G 874.46 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.2;MQ0=0;QD=33.63;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 1/1:0,26:26:72.22:907,72,0
1 237794989 rs35464404 A AG 375.33 PASS AC=2;AF=1.00;AN=2;DB;DP=11;FS=0.0;HRun=0;HaplotypeScore=135.1781;IndelType=I;MQ=33.04;MQ0=0;QD=34.12;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 1/1:1,10:11:30.10:417,30,0
1 237796759 rs10925478 G C 1272.31 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.35;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 1/1:0,35:35:93.31:1305,93,0
1 237796837 rs10802626 G A 3155.30 PASS AC=2;AF=1.00;AN=2;DB;DP=93;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.75;MQ0=0;QD=33.93;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 1/1:0,93:93:99:3188,235,0
1 237797082 rs1967579 T G 799.16 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.97;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 1/1:0,25:25:69.20:832,69,0
1 237797103 rs1967580 C A 720.46 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.31;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 1/1:0,21:21:57.19:753,57,0
1 237798041 rs112686794 T TA 327.58 PASS AC=2;AF=1.00;AN=2;DB;DP=9;FS=0.0;HRun=4;HaplotypeScore=22.1117;IndelType=I;MQ=60.0;MQ0=0;QD=36.4;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:370,27,0
1 237798450 rs3736543 G A 920.68 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.83;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 1/1:0,25:25:72.21:954,72,0
1 237801770 rs707189 T C 8296.41 PASS AC=2;AF=1.00;AN=2;DB;DP=233;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.787;MQ=59.7;MQ0=0;QD=35.61;SNPEFF_AMINO_ACID_CHANGE=L2286;SNPEFF_CODON_CHANGE=ctT/ctC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_237801657_237801792;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000542537 GT:AD:DP:GQ:PL 1/1:1,232:233:99:8296,608,0
1 237802176 rs505489 A C 77.89 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.96;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 1/1:0,3:3:9.02:110,9,0
1 237802559 rs530109 T C 1063.38 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.23;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 1/1:0,32:32:81.25:1096,81,0
1 237806819 rs11583646 G A 1367.50 PASS AB=0.511;AC=1;AF=0.50;AN=2;BaseQRankSum=1.119;DB;DP=88;Dels=0.0;FS=3.634;HRun=0;HaplotypeScore=0.9789;MQ=60.0;MQ0=0;MQRankSum=0.075;QD=15.54;ReadPosRankSum=1.411;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 0/1:45,43:88:99:1397,0,1363
1 237813030 rs487056 C T 585.79 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.46;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 1/1:0,17:17:48.13:619,48,0
1 237813126 rs625006 A G 3547.69 PASS AC=2;AF=1.00;AN=2;DB;DP=97;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.76;MQ0=0;QD=36.57;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 1/1:0,97:97:99:3548,262,0
1 237814783 rs684923 C T 1269.37 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.27;SNPEFF_AMINO_ACID_CHANGE=H2586;SNPEFF_CODON_CHANGE=caC/caT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_237814711_237814801;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000542537 GT:AD:DP:GQ:PL 1/1:0,35:35:93.31:1302,93,0
1 237814898 rs2184014 C A 163.25 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.21;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:196,15,0
1 237817514 rs71734717 GA G 707.35 PASS AB=0.68;AC=1;AF=0.50;AN=2;BaseQRankSum=6.429;DB;DP=70;FS=0.0;HRun=9;HaplotypeScore=196.0088;IndelType=D;MQ=59.66;MQ0=0;MQRankSum=0.106;QD=10.11;ReadPosRankSum=0.05;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 0/1:37,33:70:99:746,0,783
1 237817784 rs669375 A G 554.69 PASS AB=0.523;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.694;DB;DP=44;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8321;MQ=59.48;MQ0=0;MQRankSum=-0.718;QD=12.61;ReadPosRankSum=-0.475;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 0/1:23,21:44:99:585,0,829
1 237819431 rs589806 C T 101.82 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=1.932;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=57.87;MQ0=0;MQRankSum=0.466;QD=9.26;ReadPosRankSum=-1.186;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 0/1:6,5:11:99:132,0,147
1 237823476 rs1342834 A G 204.09 PASS AB=0.3;AC=1;AF=0.50;AN=2;BaseQRankSum=0.296;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.895;QD=20.41;ReadPosRankSum=0.296;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 0/1:3,7:10:75.60:234,0,76
1 237823959 rs475234 C T 85.17 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.39;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:117,9,0
1 237824332 rs471647 G A 1037.92 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.79;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 1/1:0,29:29:84.27:1071,84,0
1 237831103 rs477245 C A 336.18 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.62;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 1/1:0,10:10:27.09:369,27,0
1 237841390 rs34967813 A G 333.53 PASS AB=0.553;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.264;DB;DP=38;Dels=0.0;FS=2.932;HRun=0;HaplotypeScore=0.0;MQ=59.39;MQ0=0;MQRankSum=0.47;QD=8.78;ReadPosRankSum=-0.44;SNPEFF_AMINO_ACID_CHANGE=Q2942R;SNPEFF_CODON_CHANGE=cAa/cGa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_237841348_237841412;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000542537 GT:AD:DP:GQ:PL 0/1:21,17:38:99:364,0,696
1 237862164 rs1521745 G C 136.61 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=2.4;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.933;MQ=60.0;MQ0=0;MQRankSum=-2.8;QD=9.76;ReadPosRankSum=1.467;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 0/1:9,5:14:99:167,0,321
1 237863439 rs12754190 G A 191.82 PASS AB=0.529;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.491;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9469;MQ=58.63;MQ0=0;MQRankSum=1.395;QD=11.28;ReadPosRankSum=-1.01;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 0/1:9,8:17:99:222,0,293
1 237863718 rs2797436 T G 2969.45 PASS AC=2;AF=1.00;AN=2;DB;DP=101;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.85;MQ0=0;QD=29.4;SNPEFF_AMINO_ACID_CHANGE=S101;SNPEFF_CODON_CHANGE=tcT/tcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_237863529_237863767;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000540213 GT:AD:DP:GQ:PL 1/1:0,101:101:99:3002,241,0
1 237865203 rs939699 C T 1667.87 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.05;MQ0=0;QD=37.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 1/1:0,44:44:99:1701,126,0
1 237872714 rs35261418 GT G 340.98 PASS AC=2;AF=1.00;AN=2;DB;DP=23;FS=0.0;HRun=12;HaplotypeScore=131.62;IndelType=D;MQ=57.91;MQ0=0;QD=14.83;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 1/1:4,17:23:51.88:383,52,0
1 237881770 rs2797441 C T 2980.93 PASS AC=2;AF=1.00;AN=2;DB;DP=89;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.49;SNPEFF_AMINO_ACID_CHANGE=T3485;SNPEFF_CODON_CHANGE=acC/acT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_237881762_237881821;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000542537 GT:AD:DP:GQ:PL 1/1:0,89:89:99:3014,217,0
1 237881944 . A G 91.50 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.495;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9998;MQ=58.33;MQ0=0;MQRankSum=-0.354;QD=6.54;ReadPosRankSum=-1.485;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 0/1:10,4:14:99:121,0,366
1 237886739 rs2797444 C T 240.26 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 1/1:0,7:7:21.06:273,21,0
1 237890437 rs2685301 C T 5841.10 PASS AC=2;AF=1.00;AN=2;DB;DP=176;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.8561;MQ=59.61;MQ0=0;QD=33.19;SNPEFF_AMINO_ACID_CHANGE=S3576;SNPEFF_CODON_CHANGE=tcC/tcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_237890387_237890499;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000542537 GT:AD:DP:GQ:PL 1/1:0,175:176:99:5841,427,0
1 237893674 rs2797445 C T 2402.21 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.31;MQ0=0;QD=35.85;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 1/1:0,67:67:99:2435,181,0
1 237905568 rs35446101 T TC 1281.79 PASS AB=0.726;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.782;DB;DP=77;FS=5.864;HRun=2;HaplotypeScore=625.4141;IndelType=I;MQ=55.98;MQ0=0;MQRankSum=-0.261;QD=16.65;ReadPosRankSum=0.655;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 0/1:48,29:77:99:1321,0,773
1 237923053 rs2253831 C T 1272.70 PASS AB=0.531;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.315;DB;DP=99;Dels=0.0;FS=2.955;HRun=0;HaplotypeScore=3.6007;MQ=59.3;MQ0=0;MQRankSum=-0.778;QD=12.86;ReadPosRankSum=-0.279;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 0/1:52,46:99:99:1303,0,1568
1 237946964 rs790889 T C 1211.05 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.091;DB;DP=72;Dels=0.0;FS=6.528;HRun=1;HaplotypeScore=1.9829;MQ=58.81;MQ0=0;MQRankSum=-0.844;QD=16.82;ReadPosRankSum=0.595;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 0/1:32,40:72:99:1241,0,1012
1 237949020 rs11370997 T TG 485.82 PASS AC=2;AF=1.00;AN=2;DB;DP=11;FS=0.0;HRun=0;HaplotypeScore=24.2483;IndelType=I;MQ=60.98;MQ0=0;QD=44.17;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 1/1:0,11:11:33.11:528,33,0
1 237951451 rs2256242 A G 1806.32 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.63;MQ0=0;QD=35.42;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000542288 GT:AD:DP:GQ:PL 1/1:1,50:51:99:1839,135,0
1 237951482 rs16835818 G A 420.68 PASS AB=0.515;AC=1;AF=0.50;AN=2;BaseQRankSum=1.315;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.87;MQ0=0;MQRankSum=0.955;QD=12.75;ReadPosRankSum=-0.054;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000542288 GT:AD:DP:GQ:PL 0/1:17,16:33:99:451,0,523
1 237955649 rs10642783 CTGTGTGTG C 657.88 PASS AB=0.739;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.94;DB;DP=65;FS=2.618;HRun=0;HaplotypeScore=559.2154;IndelType=D;MQ=57.02;MQ0=0;MQRankSum=0.755;QD=10.12;ReadPosRankSum=-0.461;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000542288 GT:AD:DP:GQ:PL 0/1:42,14:65:99:697,0,962
1 237993724 rs2275692 C T 554.30 PASS AB=0.564;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.082;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.41;MQ0=0;MQRankSum=0.354;QD=14.21;ReadPosRankSum=0.326;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 0/1:22,17:39:99:584,0,755
1 237995671 rs12025731 A G 82.55 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.52;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:115,9,0
1 237996076 rs16835891 C G 309.62 PASS AB=0.1;AC=1;AF=0.50;AN=2;BaseQRankSum=1.393;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.393;QD=30.96;ReadPosRankSum=-1.044;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360064 GT:AD:DP:GQ:PL 0/1:1,9:10:6.03:339,0,6
1 238045590 rs2794813 C T 71.27 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.537;DB;DP=6;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.406;QD=11.88;ReadPosRankSum=0.406;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366570 GT:AD:DP:GQ:PL 0/1:3,3:6:99:101,0,108
1 238046253 rs2794814 T C 94.79 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.159;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.361;QD=10.53;ReadPosRankSum=-0.729;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000540213 GT:AD:DP:GQ:PL 0/1:4,5:9:99:125,0,103
1 238051933 rs2236595 C T 38.95 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.231;QD=7.79;ReadPosRankSum=0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000540213 GT:AD:DP:GQ:PL 0/1:3,2:5:68.94:69,0,106
1 238053524 rs538499 T C 219.39 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.079;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.113;QD=10.97;ReadPosRankSum=-1.021;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000540213 GT:AD:DP:GQ:PL 0/1:10,10:20:99:249,0,313
1 240070603 rs3738435 T C 149.55 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=1.307;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=16.62;ReadPosRankSum=0.361;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CHRM3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000255380 GT:AD:DP:GQ:PL 0/1:4,5:9:99:180,0,138
1 240254874 rs7521945 T C 120.75 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.19;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000447095 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:153,12,0
1 240256822 rs10926124 C A 153.25 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=1.097;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.452;QD=10.95;ReadPosRankSum=-2.001;SNPEFF_AMINO_ACID_CHANGE=A471;SNPEFF_CODON_CHANGE=gcC/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_240255180_240257024;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMN2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000319653 GT:AD:DP:GQ:PL 0/1:8,6:14:99:183,0,246
1 240286773 rs3820506 C G 73.81 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.38;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.63;MQ0=0;MQRankSum=-1.38;QD=8.2;ReadPosRankSum=-1.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000319653 GT:AD:DP:GQ:PL 0/1:4,5:9:69.83:104,0,70
1 240305899 rs12746598 C T 1241.06 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.444;DB;DP=36;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=-1.059;QD=34.47;ReadPosRankSum=-0.289;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000319653 GT:AD:DP:GQ:PL 1/1:1,35:36:63.10:1274,63,0
1 240351628 rs4659948 T C 796.36 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.11;MQ0=0;QD=37.92;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000319653 GT:AD:DP:GQ:PL 1/1:0,21:21:63.19:829,63,0
1 240370629 rs10926166 C G 1310.42 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.39;MQ0=0;QD=29.12;SNPEFF_AMINO_ACID_CHANGE=T839;SNPEFF_CODON_CHANGE=acC/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_240370099_240372032;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMN2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000319653 GT:AD:DP:GQ:PL 1/1:0,45:45:99:1343,111,0
1 240371031 rs140720010 A G 258.52 MQFilter40;SnpCluster AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9578;MQ=35.88;MQ0=0;QD=18.47;SNPEFF_AMINO_ACID_CHANGE=A973;SNPEFF_CODON_CHANGE=gcA/gcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_240370099_240372032;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMN2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000319653 GT:AD:DP:GQ:PL 1/1:0,13:14:27.05:292,27,0
1 240371034 rs150102515 A C 229.20 MQFilter40;SnpCluster AB=0.067;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.992;DB;DP=15;Dels=0.0;FS=6.99;HRun=0;HaplotypeScore=0.9578;MQ=34.67;MQ0=1;MQRankSum=-0.496;QD=15.28;ReadPosRankSum=1.24;SNPEFF_AMINO_ACID_CHANGE=G974;SNPEFF_CODON_CHANGE=ggA/ggC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_240370099_240372032;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMN2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000319653 GT:AD:DP:GQ:PL 0/1:1,14:15:3.41:258,0,3
1 240371040 . T C 95.70 MQFilter40;SnpCluster AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.271;DP=12;Dels=0.0;FS=4.771;HRun=2;HaplotypeScore=0.9578;MQ=23.85;MQ0=1;MQRankSum=0.48;QD=7.97;ReadPosRankSum=0.0;SNPEFF_AMINO_ACID_CHANGE=P976;SNPEFF_CODON_CHANGE=ccT/ccC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_240370099_240372032;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMN2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000319653 GT:AD:DP:GQ:PL 0/1:4,8:12:15.44:126,0,15
1 240371046 . A T 91.70 MQFilter40 AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.58;DP=12;Dels=0.0;FS=3.979;HRun=0;HaplotypeScore=0.0;MQ=23.3;MQ0=1;MQRankSum=0.296;QD=7.64;ReadPosRankSum=0.296;SNPEFF_AMINO_ACID_CHANGE=P978;SNPEFF_CODON_CHANGE=ccA/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_240370099_240372032;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMN2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000319653 GT:AD:DP:GQ:PL 0/1:4,7:12:40.10:122,0,40
1 240371055 . A T 63.21 MQFilter40 AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.55;DP=11;Dels=0.0;FS=10.0;HRun=1;HaplotypeScore=0.0;MQ=22.76;MQ0=1;MQRankSum=-0.55;QD=5.75;ReadPosRankSum=0.0;SNPEFF_AMINO_ACID_CHANGE=L981;SNPEFF_CODON_CHANGE=ctA/ctT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_240370099_240372032;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMN2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000319653 GT:AD:DP:GQ:PL 0/1:6,5:11:66.76:93,0,67
1 240371085 rs71646826 A T 43.25 MQFilter40 AB=0.722;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.8;DB;DP=18;Dels=0.0;FS=14.771;HRun=0;HaplotypeScore=4.8869;MQ=27.72;MQ0=1;MQRankSum=1.467;QD=2.4;ReadPosRankSum=-0.267;SNPEFF_AMINO_ACID_CHANGE=P991;SNPEFF_CODON_CHANGE=ccA/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_240370099_240372032;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMN2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000319653 GT:AD:DP:GQ:PL 0/1:13,5:18:73.24:73,0,167
1 240371094 . A G 31.34 MQFilter40;QDFilter2 AB=0.8;AC=1;AF=0.50;AN=2;BaseQRankSum=0.546;DP=21;Dels=0.0;FS=21.553;HRun=2;HaplotypeScore=4.8869;MQ=27.23;MQ0=2;MQRankSum=1.152;QD=1.49;ReadPosRankSum=-0.667;SNPEFF_AMINO_ACID_CHANGE=G994;SNPEFF_CODON_CHANGE=ggA/ggG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_240370099_240372032;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMN2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000319653 GT:AD:DP:GQ:PL 0/1:16,4:21:61.33:61,0,254
1 240371097 rs71646827 G A 31.23 MQFilter40;QDFilter2 AB=0.708;AC=1;AF=0.50;AN=2;BaseQRankSum=1.743;DB;DP=25;Dels=0.0;FS=21.182;HRun=0;HaplotypeScore=2.9945;MQ=27.36;MQ0=2;MQRankSum=1.823;QD=1.25;ReadPosRankSum=-1.347;SNPEFF_AMINO_ACID_CHANGE=A995;SNPEFF_CODON_CHANGE=gcG/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_240370099_240372032;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMN2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000319653 GT:AD:DP:GQ:PL 0/1:17,7:25:61.22:61,0,263
1 240371112 rs71646889 G T 31.30 MQFilter40;QDFilter2 AB=0.656;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.29;DB;DP=33;Dels=0.0;FS=6.532;HRun=0;HaplotypeScore=8.1081;MQ=26.15;MQ0=4;MQRankSum=2.098;QD=0.95;ReadPosRankSum=-0.549;SNPEFF_AMINO_ACID_CHANGE=P1000;SNPEFF_CODON_CHANGE=ccG/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_240370099_240372032;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMN2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000319653 GT:AD:DP:GQ:PL 0/1:21,11:33:61.29:61,0,228
1 240371118 rs71646890 A T 88.22 MQFilter40 AB=0.647;AC=1;AF=0.50;AN=2;BaseQRankSum=1.371;DB;DP=35;Dels=0.03;FS=23.314;HRun=0;HaplotypeScore=9.0746;MQ=25.32;MQ0=5;MQRankSum=0.876;QD=2.45;ReadPosRankSum=-0.247;SNPEFF_AMINO_ACID_CHANGE=P1002;SNPEFF_CODON_CHANGE=ccA/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_240370099_240372032;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMN2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000319653 GT:AD:DP:GQ:PL 0/1:22,12:35:99:118,0,222
1 240371166 . C A 84.63 MQFilter40;QDFilter2 AB=0.833;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.216;DP=49;Dels=0.0;FS=12.602;HRun=1;HaplotypeScore=0.8321;MQ=26.0;MQ0=6;MQRankSum=0.53;QD=1.73;ReadPosRankSum=0.962;SNPEFF_AMINO_ACID_CHANGE=G1018;SNPEFF_CODON_CHANGE=ggC/ggA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_240370099_240372032;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMN2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000319653 GT:AD:DP:GQ:PL 0/1:40,8:49:99:115,0,523
1 240371211 . G T 57.65 MQFilter40;QDFilter2 AB=0.742;AC=1;AF=0.50;AN=2;BaseQRankSum=1.139;DP=36;Dels=0.0;FS=9.944;HRun=0;HaplotypeScore=10.5764;MQ=31.52;MQ0=4;MQRankSum=-2.972;QD=1.6;ReadPosRankSum=0.917;SNPEFF_AMINO_ACID_CHANGE=P1033;SNPEFF_CODON_CHANGE=ccG/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_240370099_240372032;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMN2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000319653 GT:AD:DP:GQ:PL 0/1:23,8:36:87.64:88,0,396
1 240371223 . C T 324.25 MQFilter40 AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.27;DP=33;Dels=0.0;FS=4.123;HRun=0;HaplotypeScore=5.7954;MQ=33.13;MQ0=2;MQRankSum=1.599;QD=9.83;ReadPosRankSum=1.364;SNPEFF_AMINO_ACID_CHANGE=P1037;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_240370099_240372032;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMN2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000319653 GT:AD:DP:GQ:PL 0/1:15,18:33:99:354,0,190
1 240371328 rs71646895 G A 438.54 MQFilter40 AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.434;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.4698;MQ=32.34;MQ0=4;MQRankSum=3.107;QD=14.62;ReadPosRankSum=1.57;SNPEFF_AMINO_ACID_CHANGE=A1072;SNPEFF_CODON_CHANGE=gcG/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_240370099_240372032;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMN2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000319653 GT:AD:DP:GQ:PL 0/1:7,21:30:19.94:469,0,20
1 240371554 rs12732924 A G 416.14 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.8305;MQ=34.09;MQ0=2;QD=21.9;SNPEFF_AMINO_ACID_CHANGE=R1148G;SNPEFF_CODON_CHANGE=Aga/Gga;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_240370099_240372032;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMN2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000319653 GT:AD:DP:GQ:PL 1/1:0,18:19:39.10:449,39,0
1 240601269 rs2356386 A G 643.28 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.63;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000319653 GT:AD:DP:GQ:PL 1/1:0,21:21:60.13:676,60,0
1 240601632 rs2356387 A G 123.13 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.467;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.073;QD=10.26;ReadPosRankSum=0.259;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000319653 GT:AD:DP:GQ:PL 0/1:6,6:12:99:153,0,214
1 240601686 rs9700311 C G 297.85 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.23;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000319653 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:331,24,0
1 240601714 rs12217144 G A 133.96 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.49;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000319653 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:166,12,0
1 240635491 rs2210861 G C 135.49 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000319653 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:168,12,0
1 240656550 rs142343894 G C 567.38 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.48;DB;DP=45;Dels=0.0;FS=2.799;HRun=1;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=12.61;ReadPosRankSum=-1.061;SNPEFF_AMINO_ACID_CHANGE=Q76E;SNPEFF_CODON_CHANGE=Cag/Gag;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_240652873_240656776;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GREM2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000318160 GT:AD:DP:GQ:PL 0/1:21,24:45:99:597,0,600
1 240962372 rs3932692 G T 294.68 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.39;MQ0=0;QD=32.74;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGS7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401882 GT:AD:DP:GQ:PL 1/1:0,9:9:24.08:328,24,0
1 240975213 rs2275742 T C 319.81 PASS AB=0.69;AC=1;AF=0.50;AN=2;BaseQRankSum=1.306;DB;DP=42;Dels=0.0;FS=4.995;HRun=0;HaplotypeScore=0.9973;MQ=60.0;MQ0=0;MQRankSum=1.415;QD=7.61;ReadPosRankSum=-0.299;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGS7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331110 GT:AD:DP:GQ:PL 0/1:29,13:42:99:350,0,1050
1 240975435 rs2275744 C T 274.61 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=3.589;DB;DP=21;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.107;QD=13.08;ReadPosRankSum=0.391;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGS7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331110 GT:AD:DP:GQ:PL 0/1:12,9:21:99:305,0,360
1 240975611 rs7537530 C G 45.53 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.77;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGS7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331110 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:77,6,0
1 240977964 rs12744536 G T 907.84 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.83;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGS7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331110 GT:AD:DP:GQ:PL 1/1:0,24:24:69.23:941,69,0
1 240979803 rs3738068 G A 550.71 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.66;MQ0=0;QD=39.34;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGS7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331110 GT:AD:DP:GQ:PL 1/1:0,14:14:42.14:584,42,0
1 241100122 rs261857 G T 75.64 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=0.937;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.55;QD=10.81;ReadPosRankSum=1.754;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGS7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331110 GT:AD:DP:GQ:PL 0/1:4,3:7:96.19:106,0,96
1 241146322 rs7520707 A G 342.59 PASS AB=0.235;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.434;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=20.15;ReadPosRankSum=-1.302;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGS7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331110 GT:AD:DP:GQ:PL 0/1:4,13:17:87.40:373,0,87
1 241519098 rs4659599 T A 1720.13 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.4;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGS7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000348120 GT:AD:DP:GQ:PL 1/1:0,50:50:99:1753,135,0
1 241663902 rs59736583 T TGAGA 1603.45 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.462;DB;DP=70;FS=0.0;HRun=0;HaplotypeScore=388.9267;IndelType=I;MQ=55.06;MQ0=0;MQRankSum=-0.533;QD=21.97;ReadPosRankSum=0.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366560 GT:AD:DP:GQ:PL 1/1:41,23:70:26.22:1645,26,0
1 241667244 rs4659607 G T 211.44 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.21;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366560 GT:AD:DP:GQ:PL 1/1:0,7:7:18.06:244,18,0
1 241712134 rs12410855 C T 731.54 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.25;SNPEFF_AMINO_ACID_CHANGE=G20;SNPEFF_CODON_CHANGE=ggC/ggT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_241712129_241712198;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KMO;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366557 GT:AD:DP:GQ:PL 1/1:0,22:22:57.19:765,57,0
1 241712767 rs9428882 C T 45.91 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=51.77;MQ0=0;QD=15.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KMO;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366557 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:77,6,0
1 241729614 rs10754731 T G 683.30 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=52.39;MQ0=0;QD=34.16;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KMO;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000480967 GT:AD:DP:GQ:PL 1/1:0,20:20:60.16:716,60,0
1 241729687 rs140702304 AAGCTCCCTGGTCAC A 3344.55 PASS AC=2;AF=1.00;AN=2;DB;DP=37;FS=0.0;HRun=0;HaplotypeScore=518.4651;IndelType=D;MQ=38.27;MQ0=0;QD=90.39;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KMO;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000480967 GT:AD:DP:GQ:PL 1/1:7,30:37:90.31:3345,90,0
1 241750285 rs685722 T A 274.70 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.34;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KMO;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000431245 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:308,24,0
1 241755348 rs1053230 C T 1983.10 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9578;MQ=60.0;MQ0=0;QD=34.79;SNPEFF_AMINO_ACID_CHANGE=R418C;SNPEFF_CODON_CHANGE=Cgc/Tgc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_241755255_241758944;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KMO;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366557 GT:AD:DP:GQ:PL 1/1:0,57:57:99:2016,150,0
1 241761349 rs45572340 T C 554.76 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.2;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KMO;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366557 GT:AD:DP:GQ:PL 1/1:0,19:19:45.14:588,45,0
1 241767930 rs632966 G A 703.94 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.61;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=OPN3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331838 GT:AD:DP:GQ:PL 1/1:0,23:23:54.18:737,54,0
1 241816142 rs7537781 T G 186.29 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.28;MQ0=0;QD=26.61;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=WDR64;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366552 GT:AD:DP:GQ:PL 1/1:0,7:7:18.06:219,18,0
1 241816163 rs6429283 G T 170.22 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.04;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=WDR64;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366552 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:203,15,0
1 241834679 rs6663921 T G 81.39 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.13;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=WDR64;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366552 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:113,9,0
1 241838057 rs67170285 C T 707.83 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=59.03;MQ0=0;QD=29.49;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=WDR64;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366552 GT:AD:DP:GQ:PL 1/1:0,24:24:60.18:741,60,0
1 241838065 rs66585415 T C 685.96 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.89;MQ0=0;QD=32.66;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=WDR64;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366552 GT:AD:DP:GQ:PL 1/1:0,21:21:57.18:719,57,0
1 241847018 rs10802979 C T 1342.71 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.33;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=WDR64;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461971 GT:AD:DP:GQ:PL 1/1:0,37:38:99:1376,102,0
1 241907548 rs7418198 A C 432.22 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.25;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=WDR64;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366552 GT:AD:DP:GQ:PL 1/1:0,13:13:39.10:465,39,0
1 241912674 rs6669629 A C 287.57 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.95;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=WDR64;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366552 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:321,24,0
1 241913062 rs111415778 C CT 1132.02 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.733;DB;DP=33;FS=0.0;HRun=5;HaplotypeScore=66.4304;IndelType=I;MQ=61.26;MQ0=0;MQRankSum=1.3;QD=34.3;ReadPosRankSum=-1.191;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=WDR64;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366552 GT:AD:DP:GQ:PL 1/1:2,30:33:64.36:1174,64,0
1 241913224 rs10926563 G C 45.13 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.57;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=WDR64;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366552 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:76,6,0
1 241932567 rs56396922 C G 199.66 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;QD=24.96;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=WDR64;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366552 GT:AD:DP:GQ:PL 1/1:0,8:8:18.06:233,18,0
1 241933876 rs11809239 A G 384.16 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.92;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=WDR64;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366552 GT:AD:DP:GQ:PL 1/1:0,11:11:33.10:417,33,0
1 241946766 rs953597 A C 323.29 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9967;MQ=60.0;MQ0=0;QD=26.94;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=WDR64;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366552 GT:AD:DP:GQ:PL 1/1:0,12:12:30.09:356,30,0
1 241954005 rs35435449 TA T 244.96 PASS AC=2;AF=1.00;AN=2;DB;DP=52;FS=0.0;HRun=18;HaplotypeScore=321.1293;IndelType=D;MQ=56.91;MQ0=0;QD=4.71;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=WDR64;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478331 GT:AD:DP:GQ:PL 1/1:14,28:52:59.19:287,59,0
1 241954191 rs10802993 A C 44.35 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.18;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=WDR64;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478331 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:76,6,0
1 241964559 rs4658661 C T 1935.45 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.57;MQ0=0;QD=35.84;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=WDR64;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366552 GT:AD:DP:GQ:PL 1/1:0,54:54:99:1968,144,0
1 242013592 rs2286014 A AC 326.96 PASS AC=2;AF=1.00;AN=2;DB;DP=11;FS=0.0;HRun=0;HaplotypeScore=37.1648;IndelType=I;MQ=60.86;MQ0=0;QD=29.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EXO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000348581 GT:AD:DP:GQ:PL 1/1:1,10:11:33.05:369,33,0
1 242015820 rs2526704 A G 1436.02 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.45;MQ0=0;QD=34.19;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EXO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000519225 GT:AD:DP:GQ:PL 1/1:0,42:42:99:1469,108,0
1 242017009 rs1635515 A G 52.64 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.32;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EXO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000450748 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
1 242020495 rs2995544 C T 1603.22 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.87;MQ0=0;QD=39.1;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EXO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000450748 GT:AD:DP:GQ:PL 1/1:0,41:41:99:1636,120,0
1 242022130 rs2526699 T C 91.69 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.56;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EXO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000423131 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:124,9,0
1 242030151 rs735943 A G 1383.61 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.83;SNPEFF_AMINO_ACID_CHANGE=H354R;SNPEFF_CODON_CHANGE=cAt/cGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_242030132_242030357;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EXO1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000348581 GT:AD:DP:GQ:PL 1/1:0,48:48:99:1417,114,0
1 242035438 rs4149965 G A 1061.16 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9987;MQ=59.25;MQ0=0;QD=34.23;SNPEFF_AMINO_ACID_CHANGE=V458M;SNPEFF_CODON_CHANGE=Gtg/Atg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_242035334_242035580;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EXO1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000348581 GT:AD:DP:GQ:PL 1/1:0,31:31:81.27:1094,81,0
1 242035722 rs851780 G A 130.09 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.51;MQ0=0;QD=21.68;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EXO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000348581 GT:AD:DP:GQ:PL 1/1:0,5:6:12.04:163,12,0
1 242041933 rs1776147 A G 74.30 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.44;MQ0=0;QD=24.77;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EXO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000348581 GT:AD:DP:GQ:PL 1/1:0,3:3:9.01:106,9,0
1 242042545 rs1776148 A G 465.90 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.545;DB;DP=30;Dels=0.0;FS=12.187;HRun=2;HaplotypeScore=0.0;MQ=59.23;MQ0=0;MQRankSum=-1.503;QD=15.53;ReadPosRankSum=0.402;SNPEFF_AMINO_ACID_CHANGE=E670G;SNPEFF_CODON_CHANGE=gAg/gGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_242042051_242042645;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EXO1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000348581 GT:AD:DP:GQ:PL 0/1:12,18:30:99:496,0,380
1 242042690 rs1418760 A G 137.17 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.43;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EXO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000348581 GT:AD:DP:GQ:PL 1/1:0,5:5:15.04:170,15,0
1 242045275 rs1635498 C T 2036.89 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.69;MQ0=0;QD=33.39;SNPEFF_AMINO_ACID_CHANGE=R723C;SNPEFF_CODON_CHANGE=Cgt/Tgt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_242045218_242045319;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EXO1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000348581 GT:AD:DP:GQ:PL 1/1:0,61:61:99:2070,150,0
1 242048514 rs71570909 G GTAAA 280.43 PASS AC=2;AF=1.00;AN=2;DB;DP=5;FS=0.0;HRun=0;HaplotypeScore=24.6722;IndelType=I;MQ=52.62;MQ0=0;QD=56.09;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EXO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000348581 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:322,15,0
1 242048674 rs9350 C T 230.97 PASS AB=0.69;AC=1;AF=0.50;AN=2;BaseQRankSum=0.108;DB;DP=29;Dels=0.0;FS=5.724;HRun=1;HaplotypeScore=0.8321;MQ=59.2;MQ0=0;MQRankSum=-0.485;QD=7.96;ReadPosRankSum=-0.216;SNPEFF_AMINO_ACID_CHANGE=P757L;SNPEFF_CODON_CHANGE=cCt/cTt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_242048616_242048809;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EXO1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000348581 GT:AD:DP:GQ:PL 0/1:20,9:29:99:261,0,631
1 242052621 rs4150018 T G 312.12 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.21;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EXO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000348581 GT:AD:DP:GQ:PL 1/1:0,10:10:30.07:345,30,0
1 242052685 rs4150020 C G 271.63 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.346;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.849;QD=10.45;ReadPosRankSum=-1.106;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EXO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000348581 GT:AD:DP:GQ:PL 0/1:14,12:26:99:302,0,501
1 242053042 rs851797 A G 210.34 PASS AB=0.222;AC=1;AF=0.50;AN=2;BaseQRankSum=0.067;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=61.19;MQ0=0;MQRankSum=-0.762;QD=23.37;ReadPosRankSum=0.067;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EXO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000518741 GT:AD:DP:GQ:PL 0/1:2,7:9:56.40:240,0,56
1 242161679 rs28408563 G A 132.91 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAP1LC3C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357246 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:165,12,0
1 242253024 rs7523793 T C 384.98 PASS AB=0.481;AC=1;AF=0.50;AN=2;BaseQRankSum=1.771;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.704;QD=14.26;ReadPosRankSum=0.412;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PLD5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000314833 GT:AD:DP:GQ:PL 0/1:13,14:27:99:415,0,454
1 242270758 rs7412254 T C 130.71 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.47;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9999;MQ=57.66;MQ0=0;MQRankSum=0.103;QD=13.07;ReadPosRankSum=-1.453;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PLD5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427495 GT:AD:DP:GQ:PL 0/1:5,5:10:99:161,0,161
1 242270805 rs34191588 T TCTC 661.10 PASS AB=0.694;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.606;DB;DP=25;FS=0.0;HRun=0;HaplotypeScore=106.3445;IndelType=I;MQ=54.87;MQ0=0;MQRankSum=-0.087;QD=26.44;ReadPosRankSum=0.144;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PLD5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427495 GT:AD:DP:GQ:PL 0/1:14,10:25:99:700,0,537
1 242271323 rs4658619 T G 81.50 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=55.16;MQ0=0;MQRankSum=0.727;QD=20.37;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PLD5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427495 GT:AD:DP:GQ:PL 0/1:1,3:4:28.61:111,0,29
1 242383170 rs5782230 T TAC 613.40 PASS AB=0.622;AC=1;AF=0.50;AN=2;BaseQRankSum=2.571;DB;DP=23;FS=0.0;HRun=0;HaplotypeScore=103.9204;IndelType=I;MQ=60.47;MQ0=0;MQRankSum=-0.398;QD=26.67;ReadPosRankSum=-0.471;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PLD5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427495 GT:AD:DP:GQ:PL 0/1:9,14:23:99:652,0,281
1 242383201 rs1973498 T G 453.85 PASS AB=0.419;AC=1;AF=0.50;AN=2;BaseQRankSum=1.381;DB;DP=31;Dels=0.0;FS=5.722;HRun=0;HaplotypeScore=0.8667;MQ=60.35;MQ0=0;MQRankSum=0.58;QD=14.64;ReadPosRankSum=-0.02;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PLD5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427495 GT:AD:DP:GQ:PL 0/1:13,18:31:99:484,0,376
1 242383510 rs7547029 T C 111.41 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.421;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=-0.421;QD=13.93;ReadPosRankSum=2.017;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PLD5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427495 GT:AD:DP:GQ:PL 0/1:4,4:8:99:141,0,103
1 242451428 rs56040601 G A 49.99 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=49.84;MQ0=0;QD=25.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PLD5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427495 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
1 242511556 rs112478548 AACAAAG A 2060.92 PASS AC=2;AF=1.00;AN=2;DB;DP=34;FS=0.0;HRun=0;HaplotypeScore=242.7111;IndelType=D;MQ=35.02;MQ0=0;QD=58.88;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PLD5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427495 GT:AD:DP:GQ:PL 1/1:2,33:34:96.32:2103,96,0
1 243217059 . T A 124.05 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=42.55;MQ0=1;MQRankSum=2.166;QD=11.28;ReadPosRankSum=-0.546;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RP11-261C10.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000399073 GT:AD:DP:GQ:PL 0/1:4,7:11:38.07:154,0,38
1 243217374 rs78598994 A G 35.63 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=20.65;MQ0=1;QD=7.13;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RP11-261C10.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000399073 GT:AD:DP:GQ:PL 1/1:1,4:5:6.02:67,6,0
1 243217395 rs71537323 A G 101.24 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=42.68;MQ0=0;QD=20.25;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RP11-261C10.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000399073 GT:AD:DP:GQ:PL 1/1:0,5:5:12.03:134,12,0
1 243217640 rs9659520 C T 165.46 PASS AB=0.438;AC=1;AF=0.50;AN=2;BaseQRankSum=0.412;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=42.86;MQ0=0;MQRankSum=0.412;QD=10.34;ReadPosRankSum=-0.884;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RP11-261C10.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000399073 GT:AD:DP:GQ:PL 0/1:7,9:16:99:195,0,173
1 243328887 . G T 170.41 QDFilter2 AB=0.887;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.973;DP=203;Dels=0.0;FS=54.138;HRun=1;HaplotypeScore=4.1263;MQ=40.54;MQ0=1;MQRankSum=-0.563;QD=0.84;ReadPosRankSum=1.352;SNPEFF_AMINO_ACID_CHANGE=S694*;SNPEFF_CODON_CHANGE=tCa/tAa;SNPEFF_EFFECT=STOP_GAINED;SNPEFF_EXON_ID=exon_1_243327586_243329418;SNPEFF_FUNCTIONAL_CLASS=NONSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEP170;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000366543 GT:AD:DP:GQ:PL 0/1:180,23:203:99:200,0,4801
1 243329049 rs3766664 G A 1243.52 PASS AB=0.759;AC=1;AF=0.50;AN=2;BaseQRankSum=3.929;DB;DP=237;DS;Dels=0.0;FS=2.677;HRun=2;HaplotypeScore=2.9968;MQ=49.08;MQ0=2;MQRankSum=-3.963;QD=5.25;ReadPosRankSum=1.96;SNPEFF_AMINO_ACID_CHANGE=T640I;SNPEFF_CODON_CHANGE=aCt/aTt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_243327586_243329418;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEP170;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366543 GT:AD:DP:GQ:PL 0/1:180,57:237:99:1274,0,5680
1 243329075 rs61833876 T C 589.36 PASS AB=0.803;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.856;DB;DP=250;DS;Dels=0.0;FS=17.236;HRun=1;HaplotypeScore=1.7234;MQ=49.0;MQ0=3;MQRankSum=-4.253;QD=2.36;ReadPosRankSum=-0.142;SNPEFF_AMINO_ACID_CHANGE=K631;SNPEFF_CODON_CHANGE=aaA/aaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_243327586_243329418;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEP170;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366543 GT:AD:DP:GQ:PL 0/1:200,49:250:99:619,0,6389
1 243332884 rs140816120 AAG A 313.81 PASS AB=0.737;AC=1;AF=0.50;AN=2;BaseQRankSum=3.33;DB;DP=22;FS=0.0;HRun=0;HaplotypeScore=69.8126;IndelType=D;MQ=19.21;MQ0=12;MQRankSum=2.473;QD=5.6;ReadPosRankSum=-0.692;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEP170;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000521911 GT:AD:DP:GQ:PL 0/1:36,20:22:99:353,0,570
1 243362146 rs185179297 C T 30.56 MQFilter40 AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=5;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=24.4;MQ0=2;MQRankSum=0.736;QD=6.11;ReadPosRankSum=-0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEP170;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000522191 GT:AD:DP:GQ:PL 0/1:3,2:5:24.41:61,0,24
1 243362331 rs2789172 C T 572.49 PASS AB=0.566;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.487;DB;DP=145;Dels=0.0;FS=33.966;HRun=2;HaplotypeScore=1.8737;MQ=43.03;MQ0=22;MQRankSum=-8.458;QD=3.95;ReadPosRankSum=0.802;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEP170;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000522191 GT:AD:DP:GQ:PL 0/1:82,63:145:99:602,0,2722
1 243385307 rs6662118 A G 48.72 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEP170;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366542 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:80,6,0
1 243388370 rs10926973 A T 246.86 PASS AB=0.677;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.782;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.782;QD=7.96;ReadPosRankSum=1.838;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEP170;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366542 GT:AD:DP:GQ:PL 0/1:21,10:31:99:277,0,760
1 243493888 rs74701277 C G 169.83 FSFilter60 AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.767;DB;DP=75;Dels=0.0;FS=95.919;HRun=2;HaplotypeScore=0.9983;MQ=49.22;MQ0=0;MQRankSum=-4.53;QD=2.26;ReadPosRankSum=-0.601;SNPEFF_AMINO_ACID_CHANGE=A152G;SNPEFF_CODON_CHANGE=gCg/gGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_243493842_243493994;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SDCCAG8;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000435549 GT:AD:DP:GQ:PL 0/1:45,30:75:99:200,0,1080
1 243493907 rs2275155 A T 726.71 PASS AB=0.587;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.134;DB;DP=75;Dels=0.0;FS=7.513;HRun=0;HaplotypeScore=2.8995;MQ=49.22;MQ0=0;MQRankSum=0.704;QD=9.69;ReadPosRankSum=-1.951;SNPEFF_AMINO_ACID_CHANGE=E158D;SNPEFF_CODON_CHANGE=gaA/gaT;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_243493842_243493994;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SDCCAG8;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000435549 GT:AD:DP:GQ:PL 0/1:44,31:75:99:757,0,836
1 243507680 rs3215963 C CA 293.36 PASS AB=0.71;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.02;DB;DP=22;FS=0.0;HRun=2;HaplotypeScore=45.5553;IndelType=I;MQ=60.98;MQ0=0;MQRankSum=0.604;QD=13.33;ReadPosRankSum=0.888;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SDCCAG8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343783 GT:AD:DP:GQ:PL 0/1:13,9:22:99:332,0,393
1 243578812 rs10927010 G A 43.44 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=14.48;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SDCCAG8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343783 GT:AD:DP:GQ:PL 0/1:1,2:3:33.20:73,0,33
1 243801283 rs320327 G C 51.75 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AKT3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263826 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:83,6,0
1 243828306 rs167661 T A 100.92 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.922;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.421;QD=12.61;ReadPosRankSum=-0.922;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AKT3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263826 GT:AD:DP:GQ:PL 0/1:4,4:8:99:131,0,134
1 244527857 rs10927214 T C 35.84 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=5.97;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf100;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000308105 GT:AD:DP:GQ:PL 0/1:4,2:6:65.83:66,0,125
1 244528127 rs9782996 T C 228.17 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.165;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=0.627;QD=15.21;ReadPosRankSum=-1.109;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf100;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000308105 GT:AD:DP:GQ:PL 0/1:6,9:15:99:258,0,213
1 244542085 rs78482860 G A 74.23 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.231;QD=14.85;ReadPosRankSum=-1.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf100;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000308105 GT:AD:DP:GQ:PL 0/1:2,3:5:69.41:104,0,69
1 244552134 rs61095163 CATTT C 468.89 PASS AB=0.679;AC=1;AF=0.50;AN=2;BaseQRankSum=3.633;DB;DP=19;FS=0.0;HRun=0;HaplotypeScore=87.7306;IndelType=D;MQ=57.53;MQ0=0;MQRankSum=-1.184;QD=24.68;ReadPosRankSum=2.164;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf100;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000308105 GT:AD:DP:GQ:PL 0/1:10,9:19:99:508,0,764
1 244574516 rs141669799 G A 436.88 PASS AB=0.531;AC=1;AF=0.50;AN=2;BaseQRankSum=4.192;DB;DP=32;Dels=0.0;FS=3.163;HRun=0;HaplotypeScore=8.7216;MQ=58.55;MQ0=0;MQRankSum=0.68;QD=13.65;ReadPosRankSum=0.415;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADSS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468215 GT:AD:DP:GQ:PL 0/1:17,15:32:99:467,0,439
1 244580658 rs77712130 C T 53.22 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.61;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADSS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462358 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
1 244595634 rs6686008 A C 46.63 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=15.54;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADSS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366535 GT:AD:DP:GQ:PL 0/1:1,2:3:31.62:77,0,32
1 244595698 rs112813237 A C 253.26 PASS AB=0.273;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.262;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.87;MQ0=0;MQRankSum=0.0;QD=23.02;ReadPosRankSum=0.566;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADSS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366535 GT:AD:DP:GQ:PL 0/1:3,8:11:94.67:283,0,95
1 244601152 rs3127465 C T 1075.40 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.59;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADSS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366535 GT:AD:DP:GQ:PL 1/1:0,33:33:90.24:1108,90,0
1 244624887 rs3124058 T C 49.41 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.7;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C1orf101;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366531 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
1 244715411 rs3003218 G C 89.26 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.75;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C1orf101;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366531 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:121,9,0
1 244715439 rs3003217 T C 127.87 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.57;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C1orf101;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366531 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:160,12,0
1 244723920 rs7522899 C G 331.84 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.787;DB;DP=28;Dels=0.0;FS=3.08;HRun=2;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=-0.905;QD=11.85;ReadPosRankSum=-0.534;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C1orf101;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366531 GT:AD:DP:GQ:PL 0/1:16,12:28:99:362,0,534
1 244724092 rs7544794 G A 793.52 PASS AB=0.565;AC=1;AF=0.50;AN=2;BaseQRankSum=2.122;DB;DP=62;Dels=0.0;FS=5.35;HRun=0;HaplotypeScore=0.0;MQ=59.63;MQ0=0;MQRankSum=2.049;QD=12.8;ReadPosRankSum=0.007;SNPEFF_AMINO_ACID_CHANGE=S233;SNPEFF_CODON_CHANGE=tcG/tcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_244723970_244724447;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C1orf101;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366531 GT:AD:DP:GQ:PL 0/1:35,27:62:99:824,0,968
1 244724550 rs12217134 G A 399.97 PASS AB=0.517;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.506;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.982;QD=13.79;ReadPosRankSum=-1.287;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C1orf101;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366531 GT:AD:DP:GQ:PL 0/1:15,14:29:99:430,0,483
1 244724612 rs12217116 A T 206.80 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=0.896;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=2.228;QD=18.8;ReadPosRankSum=0.678;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C1orf101;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366531 GT:AD:DP:GQ:PL 0/1:4,7:11:99:237,0,127
1 244735556 rs4290045 G C 157.17 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.43;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C1orf101;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366531 GT:AD:DP:GQ:PL 1/1:0,5:5:15.04:190,15,0
1 244735858 rs10927267 A G 792.93 PASS AB=0.525;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.278;DB;DP=61;Dels=0.0;FS=2.226;HRun=0;HaplotypeScore=1.6281;MQ=60.0;MQ0=0;MQRankSum=-1.119;QD=13.0;ReadPosRankSum=-0.628;SNPEFF_AMINO_ACID_CHANGE=T427;SNPEFF_CODON_CHANGE=acA/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_244735632_244736074;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C1orf101;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366531 GT:AD:DP:GQ:PL 0/1:32,29:61:99:823,0,915
1 244736257 rs10803222 A G 52.75 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C1orf101;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366531 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
1 244747051 rs6429486 G C 295.86 PASS AB=0.1;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.696;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.044;QD=29.59;ReadPosRankSum=-1.393;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C1orf101;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366531 GT:AD:DP:GQ:PL 0/1:1,9:10:12.14:326,0,12
1 244747150 rs6429487 G A 556.84 PASS AB=0.37;AC=1;AF=0.50;AN=2;BaseQRankSum=2.435;DB;DP=27;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.176;QD=20.62;ReadPosRankSum=-0.377;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C1orf101;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366531 GT:AD:DP:GQ:PL 0/1:10,17:27:99:587,0,269
1 244747293 rs6429488 C T 193.06 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=1.164;DB;DP=17;Dels=0.0;FS=3.59;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=-0.106;QD=11.36;ReadPosRankSum=0.741;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C1orf101;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366531 GT:AD:DP:GQ:PL 0/1:8,9:17:99:223,0,176
1 244747294 rs6429489 G A 232.51 PASS AB=0.412;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.415;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=-1.22;QD=13.68;ReadPosRankSum=0.439;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C1orf101;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366531 GT:AD:DP:GQ:PL 0/1:7,10:17:99:263,0,209
1 244747339 rs6429490 G A 104.02 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.45;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.336;QD=10.4;ReadPosRankSum=-1.268;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C1orf101;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366531 GT:AD:DP:GQ:PL 0/1:5,5:10:99:134,0,182
1 244754961 rs41269387 C A 288.46 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.03;DB;DP=16;Dels=0.0;FS=9.276;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.247;QD=18.03;ReadPosRankSum=2.115;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C1orf101;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366531 GT:AD:DP:GQ:PL 0/1:6,10:16:99:318,0,203
1 244773784 rs6698173 T C 1015.77 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.25;MQ0=0;QD=32.77;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C1orf101;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366531 GT:AD:DP:GQ:PL 1/1:0,31:31:78.25:1049,78,0
1 244773803 rs6698180 T C 171.29 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=0.024;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.23;MQ0=0;MQRankSum=0.903;QD=5.71;ReadPosRankSum=-0.268;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C1orf101;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000391841 GT:AD:DP:GQ:PL 0/1:21,9:30:99:201,0,630
1 244773862 rs6698264 T C 119.72 PASS AB=0.632;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.63;DB;DP=19;Dels=0.0;FS=2.058;HRun=0;HaplotypeScore=0.5784;MQ=58.78;MQ0=0;MQRankSum=-0.181;QD=6.3;ReadPosRankSum=-1.721;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C1orf101;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000391841 GT:AD:DP:GQ:PL 0/1:12,7:19:99:150,0,373
1 244773923 rs6658178 G T 285.23 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.65;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C1orf101;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000391841 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:318,24,0
1 244803014 rs2653155 C T 30.84 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=46.84;MQ0=0;QD=10.28;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C1orf101;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485888 GT:AD:DP:GQ:PL 1/1:0,3:3:6.01:62,6,0
1 244803025 rs2819015 C T 112.59 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=52.5;MQ0=0;QD=22.52;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C1orf101;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485888 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:145,12,0
1 244803205 rs67470854 CTT C 1094.01 PASS AB=0.561;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.484;DB;DP=115;FS=3.055;HRun=14;HaplotypeScore=618.7001;IndelType=D;MQ=57.61;MQ0=0;MQRankSum=0.003;QD=9.51;ReadPosRankSum=1.333;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C1orf101;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485888 GT:AD:DP:GQ:PL 0/1:25,49:115:99:1133,0,262
1 245006461 rs141476240 G A 1239.99 PASS AB=0.529;AC=1;AF=0.50;AN=2;BaseQRankSum=2.162;DB;DP=85;Dels=0.0;FS=1.785;HRun=0;HaplotypeScore=0.9832;MQ=59.46;MQ0=0;MQRankSum=0.691;QD=14.59;ReadPosRankSum=0.269;SNPEFF_AMINO_ACID_CHANGE=G114S;SNPEFF_CODON_CHANGE=Ggc/Agc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_245006343_245008359;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM36A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000411948 GT:AD:DP:GQ:PL 0/1:45,40:85:99:1270,0,1253
1 245025697 rs11419280 T TA 97.39 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.423;DB;DP=38;FS=0.0;HRun=19;HaplotypeScore=440.6768;IndelType=I;MQ=47.84;MQ0=0;MQRankSum=-1.107;QD=2.56;ReadPosRankSum=-1.739;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HNRNPU;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283179 GT:AD:DP:GQ:PL 1/1:21,11:38:17.38:139,17,0
1 245133489 rs7545078 T G 38.11 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=47.12;MQ0=0;QD=19.05;SNPEFF_AMINO_ACID_CHANGE=V22G;SNPEFF_CODON_CHANGE=gTg/gGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_245133284_245133745;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=EFCAB2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366522 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:69,6,0
1 245165456 rs111647414 C T 777.91 PASS AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.606;DB;DP=57;Dels=0.0;FS=2.911;HRun=1;HaplotypeScore=0.0;MQ=59.34;MQ0=0;MQRankSum=0.392;QD=13.65;ReadPosRankSum=-0.2;SNPEFF_AMINO_ACID_CHANGE=R119W;SNPEFF_CODON_CHANGE=Cgg/Tgg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_245165423_245165534;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=EFCAB2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366522 GT:AD:DP:GQ:PL 0/1:30,27:57:99:808,0,973
1 245222507 rs471747 A T 41.96 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.026;QD=10.49;ReadPosRankSum=1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=EFCAB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366522 GT:AD:DP:GQ:PL 0/1:2,2:4:70.20:72,0,70
1 245222518 rs657562 G A 40.37 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.026;QD=10.09;ReadPosRankSum=1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=EFCAB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366522 GT:AD:DP:GQ:PL 0/1:2,2:4:66.70:70,0,67
1 245222634 rs694793 C G 461.97 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.8;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=EFCAB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366522 GT:AD:DP:GQ:PL 1/1:0,15:15:42.12:495,42,0
1 245222839 rs579269 G T 571.01 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.69;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=EFCAB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366522 GT:AD:DP:GQ:PL 1/1:0,16:16:45.13:604,45,0
1 245245378 rs10927386 T C 1111.18 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9789;MQ=60.0;MQ0=0;QD=32.68;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=EFCAB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366522 GT:AD:DP:GQ:PL 1/1:0,34:34:84.27:1144,84,0
1 245245402 rs10927387 C T 1439.53 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.99;SNPEFF_AMINO_ACID_CHANGE=P203;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_245245385_245245464;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=EFCAB2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366522 GT:AD:DP:GQ:PL 1/1:0,45:45:99:1473,111,0
1 245246545 rs10927389 C T 244.51 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.56;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=EFCAB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366522 GT:AD:DP:GQ:PL 1/1:0,8:8:21.07:277,21,0
1 245703819 rs7551348 T C 86.50 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.83;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF26B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366518 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:119,9,0
1 245703990 rs9919234 G T 1835.62 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=59.55;MQ0=0;QD=35.99;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF26B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366518 GT:AD:DP:GQ:PL 1/1:0,51:51:99:1869,150,0
1 245704130 rs61754898 G C 4231.67 PASS AC=2;AF=1.00;AN=2;DB;DP=126;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=5.2679;MQ=59.27;MQ0=0;QD=33.58;SNPEFF_AMINO_ACID_CHANGE=A26P;SNPEFF_CODON_CHANGE=Gct/Cct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_245704069_245704252;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF26B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000413001 GT:AD:DP:GQ:PL 1/1:0,124:126:99:4232,325,0
1 245772529 rs7555351 A G 743.66 PASS AB=0.426;AC=1;AF=0.50;AN=2;BaseQRankSum=0.366;DB;DP=47;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9916;MQ=59.51;MQ0=0;MQRankSum=0.055;QD=15.82;ReadPosRankSum=1.23;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF26B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366518 GT:AD:DP:GQ:PL 0/1:20,27:47:99:774,0,520
1 245774964 rs10802225 A G 94.16 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.731;QD=18.83;ReadPosRankSum=0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF26B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366518 GT:AD:DP:GQ:PL 0/1:1,4:5:25.60:124,0,26
1 245774979 rs10754457 C T 119.82 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=0.198;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.922;QD=17.12;ReadPosRankSum=0.922;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF26B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366518 GT:AD:DP:GQ:PL 0/1:2,5:7:63.71:150,0,64
1 245774993 rs10754458 A G 154.32 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=2.219;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=0.361;QD=17.15;ReadPosRankSum=1.159;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF26B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366518 GT:AD:DP:GQ:PL 0/1:4,5:9:99:184,0,133
1 245847356 rs116384676 C T 296.66 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.08;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF26B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366518 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:330,24,0
1 245851304 rs6701084 A G 197.78 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=53.95;MQ0=0;QD=24.72;SNPEFF_AMINO_ACID_CHANGE=T1289;SNPEFF_CODON_CHANGE=acA/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_245848707_245852109;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF26B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000413001 GT:AD:DP:GQ:PL 1/1:0,8:8:21.05:231,21,0
1 245861571 rs3205034 C T 1418.96 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.38;SNPEFF_AMINO_ACID_CHANGE=D1612;SNPEFF_CODON_CHANGE=gaC/gaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_245861408_245861610;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF26B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000413001 GT:AD:DP:GQ:PL 1/1:0,39:39:99:1452,108,0
1 245912840 rs8025 C T 329.35 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.268;DB;DP=21;Dels=0.0;FS=2.831;HRun=0;HaplotypeScore=0.0;MQ=58.89;MQ0=0;MQRankSum=0.079;QD=15.68;ReadPosRankSum=-2.298;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMYD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000388985 GT:AD:DP:GQ:PL 0/1:7,14:21:99:359,0,241
1 246021851 rs34527613 G A 604 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=1.288;DB;DP=52;Dels=0.0;FS=8.44;HRun=1;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=0.837;QD=11.62;ReadPosRankSum=-0.047;SNPEFF_AMINO_ACID_CHANGE=L171;SNPEFF_CODON_CHANGE=ctC/ctT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_246021798_246021972;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMYD3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000544586 GT:AD:DP:GQ:PL 0/1:32,20:52:99:634,0,920
1 246021941 rs2362587 T C 1516.55 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.59;SNPEFF_AMINO_ACID_CHANGE=A122;SNPEFF_CODON_CHANGE=gcA/gcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_246021864_246021972;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMYD3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000391836 GT:AD:DP:GQ:PL 1/1:0,48:48:99:1550,123,0
1 246022071 rs2185370 C T 173.99 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMYD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000388985 GT:AD:DP:GQ:PL 1/1:0,6:6:18:207,18,0
1 246022159 rs2185369 G A 50.63 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.32;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMYD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464398 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
1 246027024 rs12123124 A G 142.76 MQFilter40;SnpCluster AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=37.32;MQ0=0;QD=28.55;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMYD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464398 GT:AD:DP:GQ:PL 1/1:0,5:5:15.04:175,15,0
1 246027029 rs61830203 A T 141.64 MQFilter40;SnpCluster AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=37.32;MQ0=0;QD=28.33;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMYD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464398 GT:AD:DP:GQ:PL 1/1:0,5:5:15.04:174,15,0
1 246027034 rs2153404 G C 267.81 SnpCluster AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=48.72;MQ0=0;QD=29.76;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMYD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464398 GT:AD:DP:GQ:PL 1/1:0,9:9:24.07:301,24,0
1 246091115 rs2275313 C G 153.65 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.73;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMYD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000453676 GT:AD:DP:GQ:PL 1/1:0,5:5:15.04:186,15,0
1 246091457 rs6669768 T C 289.12 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.91;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMYD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000453676 GT:AD:DP:GQ:PL 1/1:0,10:10:27.08:322,27,0
1 246091515 rs2275318 C T 50.52 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.26;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMYD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000453676 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
1 246091531 rs6669866 T C 48.72 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.36;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMYD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000453676 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:80,6,0
1 246093465 rs11295264 GA G 197.09 PASS AB=0.62;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.754;DB;DP=31;FS=0.0;HRun=14;HaplotypeScore=162.6917;IndelType=D;MQ=57.32;MQ0=0;MQRankSum=0.553;QD=6.36;ReadPosRankSum=0.653;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMYD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000388985 GT:AD:DP:GQ:PL 0/1:12,16:31:25.16:236,0,25
1 246093644 rs3738057 T C 67.88 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.63;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMYD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000388985 GT:AD:DP:GQ:PL 1/1:0,3:3:9.02:100,9,0
1 246110573 rs10802300 A G 674.88 PASS AB=0.488;AC=1;AF=0.50;AN=2;BaseQRankSum=0.081;DB;DP=41;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.44;MQ0=0;MQRankSum=-0.054;QD=16.46;ReadPosRankSum=0.704;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMYD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000388985 GT:AD:DP:GQ:PL 0/1:20,21:41:99:705,0,591
1 246110895 rs10924400 G A 279.80 PASS AB=0.357;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.267;DB;DP=14;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.533;QD=19.99;ReadPosRankSum=1.467;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMYD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000388985 GT:AD:DP:GQ:PL 0/1:5,9:14:99:310,0,169
1 246116352 rs12137320 A G 35.77 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=7.15;ReadPosRankSum=0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMYD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000388985 GT:AD:DP:GQ:PL 0/1:3,2:5:65.76:66,0,111
1 246489706 rs66465718 GA G 179.39 PASS AC=2;AF=1.00;AN=2;DB;DP=13;FS=0.0;HRun=11;HaplotypeScore=36.3381;IndelType=D;MQ=59.06;MQ0=0;QD=13.8;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMYD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000455277 GT:AD:DP:GQ:PL 1/1:3,10:13:26.93:221,27,0
1 246490438 rs3737245 T C 1547.33 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=55.56;MQ0=0;QD=35.98;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMYD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000455277 GT:AD:DP:GQ:PL 1/1:0,43:43:99:1580,120,0
1 246490442 rs3737246 A G 1508.71 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.52;MQ0=0;QD=31.43;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMYD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000455277 GT:AD:DP:GQ:PL 1/1:0,48:48:99:1542,129,0
1 246490452 rs3737247 G A 1674.38 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=56.04;MQ0=0;QD=31.01;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMYD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000455277 GT:AD:DP:GQ:PL 1/1:0,54:54:99:1707,138,0
1 246498866 rs10159376 A C 702.55 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.98;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMYD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000388985 GT:AD:DP:GQ:PL 1/1:0,19:19:57.18:736,57,0
1 246670281 rs6671418 G C 48.08 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.04;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMYD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000388985 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
1 246711816 rs11312430 GA G 446.27 PASS AB=0.654;AC=1;AF=0.50;AN=2;BaseQRankSum=2.838;DB;DP=34;FS=0.0;HRun=5;HaplotypeScore=103.1552;IndelType=D;MQ=60.63;MQ0=0;MQRankSum=-0.774;QD=13.13;ReadPosRankSum=0.298;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TFB2M;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000544618 GT:AD:DP:GQ:PL 0/1:16,18:34:99:485,0,482
1 246712033 rs1890160 A G 422.75 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.2;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TFB2M;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366514 GT:AD:DP:GQ:PL 1/1:0,14:14:36.11:456,36,0
1 246714426 rs12140400 A G 216.07 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=2.752;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.694;QD=13.5;ReadPosRankSum=1.059;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TFB2M;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366514 GT:AD:DP:GQ:PL 0/1:9,7:16:99:246,0,309
1 246714587 rs10754526 G A 391.46 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.83;MQ0=0;MQRankSum=-1.474;QD=9.79;ReadPosRankSum=-1.718;SNPEFF_AMINO_ACID_CHANGE=P241;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_246714515_246714604;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TFB2M;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366514 GT:AD:DP:GQ:PL 0/1:20,20:40:99:421,0,631
1 246714631 rs80342781 T A 45.33 QDFilter2;SnpCluster AB=0.44;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.684;DB;DP=25;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=54.2;MQ0=0;MQRankSum=-0.63;QD=1.81;ReadPosRankSum=0.63;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TFB2M;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366514 GT:AD:DP:GQ:PL 0/1:11,14:25:75.33:75,0,368
1 246714632 rs75477023 G A 45.33 QDFilter2;SnpCluster AB=0.478;AC=1;AF=0.50;AN=2;BaseQRankSum=0.031;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.95;MQ0=0;MQRankSum=-0.708;QD=1.89;ReadPosRankSum=0.708;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TFB2M;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366514 GT:AD:DP:GQ:PL 0/1:11,12:24:75.33:75,0,371
1 246714636 rs34850511 T A 172.22 SnpCluster AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=1.962;DB;DP=24;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=53.95;MQ0=0;MQRankSum=-0.849;QD=7.18;ReadPosRankSum=0.381;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TFB2M;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366514 GT:AD:DP:GQ:PL 0/1:10,14:24:99:202,0,312
1 246714728 rs9426201 G A 35.20 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=11.73;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TFB2M;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366514 GT:AD:DP:GQ:PL 1/1:0,3:3:5.99:66,6,0
1 246720174 rs3120710 A G 192.83 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TFB2M;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366514 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:226,18,0
1 246720798 rs3124071 G A 2696.43 PASS AC=2;AF=1.00;AN=2;DB;DP=72;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.42;MQ0=0;QD=37.45;SNPEFF_AMINO_ACID_CHANGE=I147;SNPEFF_CODON_CHANGE=atC/atT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_246720683_246720836;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TFB2M;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366514 GT:AD:DP:GQ:PL 1/1:0,72:72:99:2729,211,0
1 246727558 rs3120713 G T 353.11 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.31;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TFB2M;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366514 GT:AD:DP:GQ:PL 1/1:0,10:10:30.08:386,30,0
1 246755124 rs6702823 T C 1575.17 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.15;SNPEFF_AMINO_ACID_CHANGE=L87S;SNPEFF_CODON_CHANGE=tTg/tCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_246754814_246755243;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CNST;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366511 GT:AD:DP:GQ:PL 1/1:0,49:49:99:1608,126,0
1 246903654 rs3007322 G C 1159.57 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCCPDH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366509 GT:AD:DP:GQ:PL 1/1:0,34:34:90.29:1193,90,0
1 246922124 rs12135184 G T 150.40 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=10;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCCPDH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366509 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:183,15,0
1 246929483 rs12144408 A G 3158.52 PASS AC=2;AF=1.00;AN=2;DB;DP=93;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.865;MQ=59.25;MQ0=0;QD=33.96;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCCPDH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366509 GT:AD:DP:GQ:PL 1/1:0,93:93:99:3192,232,0
1 246939610 rs3838991 A ATATT 1548.01 PASS AC=2;AF=1.00;AN=2;DB;DP=33;FS=0.0;HRun=0;HaplotypeScore=110.8206;IndelType=I;MQ=53.98;MQ0=0;QD=45.53;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RP11-439E19.8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000508436 GT:AD:DP:GQ:PL 1/1:11,22:33:66.22:1590,66,0
1 246939856 rs3795465 G A 3655.39 PASS AC=2;AF=1.00;AN=2;DB;DP=106;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.4682;MQ=59.39;MQ0=0;QD=34.48;SNPEFF_AMINO_ACID_CHANGE=T257I;SNPEFF_CODON_CHANGE=aCt/aTt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_246939842_246939986;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RP11-439E19.8;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000451123 GT:AD:DP:GQ:PL 1/1:0,105:106:99:3655,271,0
1 246939943 rs6685364 T C 3070.19 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.312;DB;DP=100;Dels=0.0;FS=3.522;HRun=1;HaplotypeScore=0.9999;MQ=60.0;MQ0=0;MQRankSum=1.212;QD=30.7;ReadPosRankSum=0.035;SNPEFF_AMINO_ACID_CHANGE=K228R;SNPEFF_CODON_CHANGE=aAg/aGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_246939842_246939986;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RP11-439E19.8;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000451123 GT:AD:DP:GQ:PL 1/1:1,99:100:99:3103,199,0
1 246940179 rs3795464 G A 2787.29 PASS AC=2;AF=1.00;AN=2;DB;DP=77;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9997;MQ=59.16;MQ0=0;QD=36.2;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RP11-439E19.8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000508436 GT:AD:DP:GQ:PL 1/1:0,77:77:99:2820,205,0
1 246940182 rs3795463 C A 2842.45 PASS AC=2;AF=1.00;AN=2;DB;DP=84;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.23;MQ0=0;QD=33.84;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RP11-439E19.8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000508436 GT:AD:DP:GQ:PL 1/1:0,84:84:99:2875,211,0
1 246940442 rs3795462 T C 686.13 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.89;MQ0=0;QD=32.67;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RP11-439E19.8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000508436 GT:AD:DP:GQ:PL 1/1:0,21:21:57.17:719,57,0
1 246940826 rs4926454 G C 908.42 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.533;DB;DP=26;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.2;QD=34.94;ReadPosRankSum=1.467;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RP11-439E19.8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000508436 GT:AD:DP:GQ:PL 1/1:1,25:26:36.01:941,36,0
1 246940864 rs4244627 A G 503.77 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.81;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.504;QD=33.58;ReadPosRankSum=-1.042;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RP11-439E19.8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000508436 GT:AD:DP:GQ:PL 1/1:1,14:15:4.50:534,5,0
1 246940928 rs4926455 T A 97.48 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=19.5;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RP11-439E19.8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000508436 GT:AD:DP:GQ:PL 1/1:0,5:5:12.03:130,12,0
1 247006160 rs5021094 G T 322.72 PASS AB=0.593;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.887;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.716;QD=11.53;ReadPosRankSum=-1.357;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AHCTF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326225 GT:AD:DP:GQ:PL 0/1:16,11:28:99:353,0,588
1 247007042 rs71680437 TA T 302.84 PASS AC=2;AF=1.00;AN=2;DB;DP=14;FS=0.0;HRun=11;HaplotypeScore=63.6408;IndelType=D;MQ=52.23;MQ0=0;QD=21.63;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AHCTF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326225 GT:AD:DP:GQ:PL 1/1:0,14:14:41.95:345,42,0
1 247021266 rs111386980 C CTTCT 332.07 PASS AC=2;AF=1.00;AN=2;DB;DP=6;FS=0.0;HRun=0;HaplotypeScore=21.7227;IndelType=I;MQ=52.36;MQ0=0;QD=55.35;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AHCTF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477526 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:374,18,0
1 247025531 rs55727006 C T 73.19 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.406;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.82;MQ0=0;MQRankSum=0.406;QD=12.2;ReadPosRankSum=-0.406;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AHCTF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326225 GT:AD:DP:GQ:PL 0/1:3,3:6:99:103,0,107
1 247048834 rs2642990 T C 188.37 PASS AB=0.607;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.239;DB;DP=28;Dels=0.0;FS=3.751;HRun=0;HaplotypeScore=0.0;MQ=49.7;MQ0=0;MQRankSum=-2.82;QD=6.73;ReadPosRankSum=-1.08;SNPEFF_AMINO_ACID_CHANGE=N874S;SNPEFF_CODON_CHANGE=aAc/aGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_247048795_247048982;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AHCTF1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000391829 GT:AD:DP:GQ:PL 0/1:17,11:28:99:218,0,481
1 247054530 rs1472275 T C 35.86 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.16;MQ0=0;MQRankSum=0.0;QD=8.96;ReadPosRankSum=-1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AHCTF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326225 GT:AD:DP:GQ:PL 0/1:2,2:4:65.85:66,0,73
1 247055427 rs2800219 C A 44.87 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.44;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AHCTF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326225 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:76,6,0
1 247055446 rs61854021 A G 51.75 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AHCTF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326225 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:83,6,0
1 247063209 rs1779964 G A 322.68 PASS AB=0.412;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.146;DB;DP=17;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=57.77;MQ0=0;MQRankSum=-0.439;QD=18.98;ReadPosRankSum=0.342;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AHCTF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326225 GT:AD:DP:GQ:PL 0/1:7,10:17:99:353,0,238
1 247109014 rs2642982 G C 175.21 PASS AB=0.619;AC=1;AF=0.50;AN=2;BaseQRankSum=2.023;DB;DP=21;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=3.378;MQ=58.89;MQ0=0;MQRankSum=-0.206;QD=8.34;ReadPosRankSum=-0.702;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ZNF695;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000498046 GT:AD:DP:GQ:PL 0/1:13,8:21:99:205,0,284
1 247109168 rs6426191 G A 362.23 PASS AB=0.586;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.148;DB;DP=29;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8667;MQ=59.2;MQ0=0;MQRankSum=0.066;QD=12.49;ReadPosRankSum=-1.616;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ZNF695;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000487338 GT:AD:DP:GQ:PL 0/1:17,12:29:99:392,0,609
1 247109267 rs2642983 A C 109.96 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.72;QD=18.33;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ZNF695;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000487338 GT:AD:DP:GQ:PL 0/1:2,4:6:57.84:140,0,58
1 247109296 rs41267541 A G 102.54 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.38;QD=17.09;ReadPosRankSum=-0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ZNF695;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000487338 GT:AD:DP:GQ:PL 0/1:2,4:6:65.41:133,0,65
1 247129945 rs1779985 A G 167.88 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.58;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ZNF670;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474541 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:201,15,0
1 247162658 rs2642973 C T 2062.77 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.74;SNPEFF_AMINO_ACID_CHANGE=R84K;SNPEFF_CODON_CHANGE=aGa/aAa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_247162650_247162742;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ZNF695;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000339986 GT:AD:DP:GQ:PL 1/1:0,63:63:99:2096,156,0
1 247163187 rs2818870 T C 2059.96 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.445;MQ=60.0;MQ0=0;QD=33.23;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ZNF695;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000339986 GT:AD:DP:GQ:PL 1/1:0,61:62:99:2093,153,0
1 247201852 rs2818880 T C 148.54 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.76;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ZNF670;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366503 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:181,15,0
1 247202032 rs10924897 G T 996.20 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.9;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ZNF670;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366503 GT:AD:DP:GQ:PL 1/1:0,27:27:78.25:1029,78,0
1 247241795 rs41310571 C A 223.75 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.96;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ZNF670;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366503 GT:AD:DP:GQ:PL 1/1:0,7:7:21.05:257,21,0
1 247263973 rs35316550 T C 819.25 PASS AB=0.479;AC=1;AF=0.50;AN=2;BaseQRankSum=0.908;DB;DP=48;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.5616;MQ=59.03;MQ0=0;MQRankSum=-2.167;QD=17.07;ReadPosRankSum=1.114;SNPEFF_AMINO_ACID_CHANGE=Q280;SNPEFF_CODON_CHANGE=caA/caG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_247263264_247264621;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF669;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000448299 GT:AD:DP:GQ:PL 0/1:23,25:48:99:849,0,781
1 247419509 rs1778540 T C 7736.24 PASS AC=2;AF=1.00;AN=2;DB;DP=223;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.9653;MQ=59.9;MQ0=0;QD=34.69;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=VN1R5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472952 GT:AD:DP:GQ:PL 1/1:0,223:223:99:7736,569,0
1 247419664 rs1778541 C T 6347.28 PASS AC=2;AF=1.00;AN=2;DB;DP=192;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.8358;MQ=59.68;MQ0=0;QD=32.89;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=VN1R5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472952 GT:AD:DP:GQ:PL 1/1:0,191:192:99:6347,473,0
1 247420421 rs41308154 C T 218.86 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=3.204;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.91;QD=15.63;ReadPosRankSum=0.299;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=VN1R5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472952 GT:AD:DP:GQ:PL 0/1:7,7:14:99:249,0,211
1 247485932 rs10924984 A G 1403.28 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.52;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ZNF496;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294753 GT:AD:DP:GQ:PL 1/1:0,51:51:99:1436,123,0
1 247486421 rs6692645 G C 85.98 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=2.163;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.2;MQ0=0;MQRankSum=-0.437;QD=6.61;ReadPosRankSum=0.271;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ZNF496;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294753 GT:AD:DP:GQ:PL 0/1:8,5:13:99:116,0,254
1 247493031 rs6674425 C G 70.19 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.922;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.922;QD=8.77;ReadPosRankSum=0.922;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ZNF496;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294753 GT:AD:DP:GQ:PL 0/1:4,4:8:99:100,0,125
1 247586920 rs4925651 T G 33.09 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=16.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NLRP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336119 GT:AD:DP:GQ:PL 1/1:0,2:2:6:64,6,0
1 247587477 rs3806268 G A 1589.98 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.14;SNPEFF_AMINO_ACID_CHANGE=A244;SNPEFF_CODON_CHANGE=gcG/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_247587149_247588901;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NLRP3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000336119 GT:AD:DP:GQ:PL 1/1:0,44:44:99:1623,120,0
1 247587531 rs4925543 A G 1727.02 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.98;SNPEFF_AMINO_ACID_CHANGE=R262;SNPEFF_CODON_CHANGE=cgA/cgG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_247587149_247588901;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NLRP3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000336119 GT:AD:DP:GQ:PL 1/1:0,54:54:99:1760,132,0
1 247588053 rs34298354 C T 527.16 PASS AB=0.575;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.673;DB;DP=40;Dels=0.0;FS=2.961;HRun=0;HaplotypeScore=0.0;MQ=59.42;MQ0=0;MQRankSum=-1.028;QD=13.18;ReadPosRankSum=-0.294;SNPEFF_AMINO_ACID_CHANGE=S436;SNPEFF_CODON_CHANGE=tcC/tcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_247587149_247588901;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NLRP3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000336119 GT:AD:DP:GQ:PL 0/1:23,17:40:99:557,0,711
1 247597223 rs111632834 G A 34.15 PASS AB=0.813;AC=1;AF=0.50;AN=2;BaseQRankSum=1.48;DB;DP=16;Dels=0.0;FS=2.688;HRun=0;HaplotypeScore=0.0;MQ=52.05;MQ0=0;MQRankSum=0.942;QD=2.13;ReadPosRankSum=-2.153;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NLRP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336119 GT:AD:DP:GQ:PL 0/1:13,3:16:64.15:64,0,414
1 247597258 rs10802498 G C 753.41 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.97;MQ0=0;QD=37.67;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NLRP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336119 GT:AD:DP:GQ:PL 1/1:0,20:20:60.19:786,60,0
1 247597276 rs77795397 A G 412.37 PASS AB=0.536;AC=1;AF=0.50;AN=2;BaseQRankSum=1.704;DB;DP=28;Dels=0.0;FS=3.617;HRun=1;HaplotypeScore=2.995;MQ=54.87;MQ0=0;MQRankSum=1.797;QD=14.73;ReadPosRankSum=0.369;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NLRP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336119 GT:AD:DP:GQ:PL 0/1:15,13:28:99:442,0,420
1 247597281 rs12117378 A G 526.11 PASS AB=0.448;AC=1;AF=0.50;AN=2;BaseQRankSum=0.899;DB;DP=29;Dels=0.0;FS=6.467;HRun=1;HaplotypeScore=2.995;MQ=55.06;MQ0=0;MQRankSum=2.434;QD=18.14;ReadPosRankSum=0.197;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NLRP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336119 GT:AD:DP:GQ:PL 0/1:13,16:29:99:556,0,368
1 247597329 rs12124866 C T 1474.47 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9665;MQ=51.92;MQ0=0;QD=31.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NLRP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336119 GT:AD:DP:GQ:PL 1/1:0,47:47:99:1507,117,0
1 247597365 . G GTGTGTTCTGAGGCCTTCTCTATTCCAGAGCTCTCTGGTCAGA 11263.87 PASS AB=0.602;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.399;DP=74;FS=1.027;HRun=0;HaplotypeScore=2103.9612;IndelType=I;MQ=52.0;MQ0=0;MQRankSum=-2.728;QD=152.21;ReadPosRankSum=-3.03;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NLRP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336119 GT:AD:DP:GQ:PL 0/1:25,16:74:99:11264,0,2798
1 247597365 rs10925022 G A 1357.15 HaplotypeScoreFilter13 AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=25.9869;MQ=50.49;MQ0=0;QD=26.61;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NLRP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336119 GT:AD:DP:GQ:PL 1/1:0,51:51:99:1390,105,0
1 247597656 rs3835304 TG T 425.81 PASS AC=2;AF=1.00;AN=2;DB;DP=14;FS=0.0;HRun=4;HaplotypeScore=36.7448;IndelType=D;MQ=58.33;MQ0=0;QD=30.41;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NLRP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336119 GT:AD:DP:GQ:PL 1/1:1,13:14:39.12:468,39,0
1 247599025 rs10925024 C T 120.24 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.731;QD=24.05;ReadPosRankSum=0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NLRP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336119 GT:AD:DP:GQ:PL 0/1:1,4:5:27.60:150,0,28
1 247599070 rs4612666 T C 175.36 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NLRP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336119 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:208,15,0
1 247599232 rs10754557 G A 1169.30 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.13;MQ0=0;QD=28.52;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NLRP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336119 GT:AD:DP:GQ:PL 1/1:1,40:41:96.26:1202,96,0
1 247607642 rs12130711 C T 47.98 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.99;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NLRP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336119 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
1 247614194 rs12075565 A G 771.29 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=0.271;DB;DP=45;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.49;MQ0=0;MQRankSum=-0.554;QD=17.14;ReadPosRankSum=0.837;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NLRP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336119 GT:AD:DP:GQ:PL 0/1:20,25:45:99:801,0,676
1 247614386 rs12070953 T C 3456.51 PASS AB=0.487;AC=1;AF=0.50;AN=2;BaseQRankSum=1.698;DB;DP=229;Dels=0.0;FS=3.821;HRun=1;HaplotypeScore=5.8424;MQ=59.39;MQ0=0;MQRankSum=0.285;QD=15.09;ReadPosRankSum=0.835;SNPEFF_AMINO_ACID_CHANGE=D300G;SNPEFF_CODON_CHANGE=gAt/gGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_247614255_247615308;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2B11;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000318749 GT:AD:DP:GQ:PL 0/1:111,117:229:99:3457,0,3453
1 247614407 rs12065526 G A 3175.73 PASS AB=0.476;AC=1;AF=0.50;AN=2;BaseQRankSum=0.222;DB;DP=212;Dels=0.0;FS=1.12;HRun=0;HaplotypeScore=2.5712;MQ=59.24;MQ0=0;MQRankSum=0.92;QD=14.98;ReadPosRankSum=-1.693;SNPEFF_AMINO_ACID_CHANGE=T293I;SNPEFF_CODON_CHANGE=aCc/aTc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_247614255_247615308;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2B11;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000318749 GT:AD:DP:GQ:PL 0/1:101,111:212:99:3206,0,3113
1 247614553 rs12086048 C T 472.91 PASS AB=0.638;AC=1;AF=0.50;AN=2;BaseQRankSum=4.136;DB;DP=58;Dels=0.0;FS=1.173;HRun=0;HaplotypeScore=0.9665;MQ=59.6;MQ0=0;MQRankSum=0.346;QD=8.15;ReadPosRankSum=0.329;SNPEFF_AMINO_ACID_CHANGE=T244;SNPEFF_CODON_CHANGE=acG/acA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_247614255_247615308;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2B11;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000318749 GT:AD:DP:GQ:PL 0/1:37,21:58:99:503,0,1061
1 247614617 rs4925663 C T 823.86 PASS AB=0.422;AC=1;AF=0.50;AN=2;BaseQRankSum=0.307;DB;DP=45;Dels=0.0;FS=4.525;HRun=0;HaplotypeScore=1.8255;MQ=59.49;MQ0=0;MQRankSum=0.077;QD=18.31;ReadPosRankSum=0.769;SNPEFF_AMINO_ACID_CHANGE=G223D;SNPEFF_CODON_CHANGE=gGc/gAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_247614255_247615308;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2B11;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000318749 GT:AD:DP:GQ:PL 0/1:19,26:45:99:854,0,513
1 247614693 rs6695302 C T 972.29 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.23;MQ0=0;QD=32.41;SNPEFF_AMINO_ACID_CHANGE=V198M;SNPEFF_CODON_CHANGE=Gtg/Atg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_247614255_247615308;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2B11;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000318749 GT:AD:DP:GQ:PL 1/1:0,30:30:78.21:1005,78,0
1 247614896 rs11583410 A C 394.67 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.452;DB;DP=35;Dels=0.0;FS=5.599;HRun=0;HaplotypeScore=0.7887;MQ=58.67;MQ0=0;MQRankSum=1.172;QD=11.28;ReadPosRankSum=-0.822;SNPEFF_AMINO_ACID_CHANGE=I130S;SNPEFF_CODON_CHANGE=aTc/aGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_247614255_247615308;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2B11;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000318749 GT:AD:DP:GQ:PL 0/1:21,14:35:99:425,0,622
1 247615261 rs74468375 GA G 556.66 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=3.845;DB;DP=36;FS=0.0;HRun=2;HaplotypeScore=92.0495;IndelType=D;MQ=60.3;MQ0=0;MQRankSum=0.677;QD=15.46;ReadPosRankSum=0.677;SNPEFF_EFFECT=FRAME_SHIFT;SNPEFF_EXON_ID=exon_1_247614255_247615308;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2B11;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000318749 GT:AD:DP:GQ:PL 0/1:18,18:36:99:596,0,660
1 247615340 rs55889481 C T 143.57 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=0.884;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.72;MQ0=0;MQRankSum=0.059;QD=9.57;ReadPosRankSum=0.53;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NLRP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336119 GT:AD:DP:GQ:PL 0/1:9,6:15:99:174,0,319
1 247615358 rs10925030 C G 98.74 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=1.398;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.98;MQ0=0;MQRankSum=0.278;QD=8.98;ReadPosRankSum=1.663;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NLRP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336119 GT:AD:DP:GQ:PL 0/1:7,4:11:99:129,0,238
1 247654993 rs10925061 T C 1601.40 PASS AB=0.451;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.897;DB;DP=102;Dels=0.0;FS=3.713;HRun=1;HaplotypeScore=0.9734;MQ=59.59;MQ0=0;MQRankSum=0.46;QD=15.7;ReadPosRankSum=1.613;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=OR2W5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366492 GT:AD:DP:GQ:PL 0/1:46,56:102:99:1631,0,1324
1 247655275 rs12141850 T C 1088.43 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.889;DB;DP=90;Dels=0.0;FS=7.883;HRun=0;HaplotypeScore=2.6163;MQ=59.54;MQ0=0;MQRankSum=-1.848;QD=12.09;ReadPosRankSum=0.144;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=OR2W5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366492 GT:AD:DP:GQ:PL 0/1:48,42:90:99:1118,0,1488
1 247694949 rs6702693 G C 435.50 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=0.391;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.453;QD=10.89;ReadPosRankSum=0.615;SNPEFF_AMINO_ACID_CHANGE=L289V;SNPEFF_CODON_CHANGE=Ctt/Gtt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_247693434_247695842;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2C3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366487 GT:AD:DP:GQ:PL 0/1:25,15:40:99:465,0,869
1 247694958 rs6702695 G A 511.87 PASS AB=0.585;AC=1;AF=0.50;AN=2;BaseQRankSum=0.04;DB;DP=41;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=-0.992;QD=12.48;ReadPosRankSum=0.437;SNPEFF_AMINO_ACID_CHANGE=L286;SNPEFF_CODON_CHANGE=Ctg/Ttg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_247693434_247695842;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2C3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366487 GT:AD:DP:GQ:PL 0/1:24,17:41:99:542,0,818
1 247695612 rs6657127 G A 1436.80 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.5;MQ0=0;QD=31.23;SNPEFF_AMINO_ACID_CHANGE=P68S;SNPEFF_CODON_CHANGE=Ccc/Tcc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_247693434_247695842;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2C3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366487 GT:AD:DP:GQ:PL 1/1:0,45:46:99:1470,111,0
1 247695756 rs6697472 T C 1116.22 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.38;MQ0=0;QD=30.17;SNPEFF_AMINO_ACID_CHANGE=T20A;SNPEFF_CODON_CHANGE=Aca/Gca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_247693434_247695842;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2C3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366487 GT:AD:DP:GQ:PL 1/1:0,37:37:90.28:1149,90,0
1 247695958 rs6697675 T C 46.97 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.48;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf150;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366489 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:78,6,0
1 247712303 rs41315846 T C 623.53 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.18;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1orf150;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366489 GT:AD:DP:GQ:PL 1/1:0,20:20:48.16:657,48,0
1 247752161 rs10925085 T C 1403.15 PASS AB=0.52;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.475;DB;DP=123;Dels=0.0;FS=5.729;HRun=3;HaplotypeScore=2.9707;MQ=59.36;MQ0=0;MQRankSum=-0.922;QD=11.41;ReadPosRankSum=0.066;SNPEFF_AMINO_ACID_CHANGE=L167P;SNPEFF_CODON_CHANGE=cTg/cCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_247751662_247752615;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2G2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000320065 GT:AD:DP:GQ:PL 0/1:64,59:123:99:1433,0,2000
1 247752367 rs869111 A G 893.60 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.431;DB;DP=80;Dels=0.0;FS=14.257;HRun=2;HaplotypeScore=1.6988;MQ=58.84;MQ0=0;MQRankSum=0.381;QD=11.17;ReadPosRankSum=-0.619;SNPEFF_AMINO_ACID_CHANGE=R236G;SNPEFF_CODON_CHANGE=Agg/Ggg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_247751662_247752615;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2G2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000320065 GT:AD:DP:GQ:PL 0/1:45,35:80:99:924,0,1366
1 247769752 rs61730407 A G 500.24 PASS AB=0.596;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.046;DB;DP=47;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.29;QD=10.64;ReadPosRankSum=1.897;SNPEFF_AMINO_ACID_CHANGE=I289V;SNPEFF_CODON_CHANGE=Atc/Gtc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_247768856_247769838;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2G3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000320002 GT:AD:DP:GQ:PL 0/1:28,19:47:99:530,0,868
1 247835352 rs1151641 C T 443.21 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.93;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR13G1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359688 GT:AD:DP:GQ:PL 1/1:0,12:12:36.11:476,36,0
1 247835674 rs28446289 G A 751.47 PASS AB=0.478;AC=1;AF=0.50;AN=2;BaseQRankSum=2.386;DB;DP=46;Dels=0.0;FS=11.618;HRun=0;HaplotypeScore=1.7338;MQ=59.5;MQ0=0;MQRankSum=0.671;QD=16.34;ReadPosRankSum=2.078;SNPEFF_AMINO_ACID_CHANGE=R224C;SNPEFF_CODON_CHANGE=Cgt/Tgt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_247835320_247836365;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR13G1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000359688 GT:AD:DP:GQ:PL 0/1:22,24:46:99:781,0,709
1 247835908 rs28556931 T A 387.88 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=2.179;DB;DP=39;Dels=0.0;FS=9.774;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.765;QD=9.95;ReadPosRankSum=-0.361;SNPEFF_AMINO_ACID_CHANGE=M146L;SNPEFF_CODON_CHANGE=Atg/Ttg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_247835320_247836365;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR13G1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000359688 GT:AD:DP:GQ:PL 0/1:24,15:39:99:418,0,789
1 247835950 rs1151640 T C 874.43 PASS AB=0.378;AC=1;AF=0.50;AN=2;BaseQRankSum=3.664;DB;DP=45;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=-0.597;QD=19.43;ReadPosRankSum=0.737;SNPEFF_AMINO_ACID_CHANGE=I132V;SNPEFF_CODON_CHANGE=Att/Gtt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_247835320_247836365;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR13G1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000359688 GT:AD:DP:GQ:PL 0/1:17,28:45:99:904,0,484
1 247836008 rs28555391 G A 486.29 PASS AB=0.612;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.713;DB;DP=49;Dels=0.0;FS=4.262;HRun=2;HaplotypeScore=1.7803;MQ=60.0;MQ0=0;MQRankSum=-0.708;QD=9.92;ReadPosRankSum=0.852;SNPEFF_AMINO_ACID_CHANGE=F112;SNPEFF_CODON_CHANGE=ttC/ttT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_247835320_247836365;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR13G1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000359688 GT:AD:DP:GQ:PL 0/1:30,19:49:99:516,0,927
1 247836207 rs28711149 T A 329.91 PASS AB=0.52;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.462;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.8583;MQ=60.0;MQ0=0;MQRankSum=-0.517;QD=13.2;ReadPosRankSum=2.257;SNPEFF_AMINO_ACID_CHANGE=K46I;SNPEFF_CODON_CHANGE=aAa/aTa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_247835320_247836365;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR13G1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000359688 GT:AD:DP:GQ:PL 0/1:13,12:25:99:360,0,419
1 247921100 rs1552812 T G 1374.30 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9565;MQ=59.09;MQ0=0;QD=29.88;SNPEFF_AMINO_ACID_CHANGE=G203;SNPEFF_CODON_CHANGE=ggA/ggC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_247920676_247921982;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR1C1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000408896 GT:AD:DP:GQ:PL 1/1:0,46:46:99:1407,111,0
1 247921352 rs1552813 C T 1205.21 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.73;MQ0=0;QD=36.52;SNPEFF_AMINO_ACID_CHANGE=A119;SNPEFF_CODON_CHANGE=gcG/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_247920676_247921982;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR1C1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000408896 GT:AD:DP:GQ:PL 1/1:0,32:33:90.30:1238,90,0
1 247921717 rs10888359 C A 204.35 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.71;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_1_247920676_247921982;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR1C1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408896 GT:AD:DP:GQ:PL 1/1:0,9:9:18.06:237,18,0
1 247978087 rs10888248 G A 772.59 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.04;FS=0.0;HRun=4;HaplotypeScore=0.9665;MQ=60.0;MQ0=0;QD=28.61;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR14A16;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357627 GT:AD:DP:GQ:PL 1/1:0,26:26:66.20:806,66,0
1 247978319 rs6695283 A G 853.61 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;QD=35.57;SNPEFF_AMINO_ACID_CHANGE=I238T;SNPEFF_CODON_CHANGE=aTt/aCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_247978102_247979031;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR14A16;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000357627 GT:AD:DP:GQ:PL 1/1:0,24:24:66.22:887,66,0
1 247978541 rs35979231 AAGG A 4801.22 PASS AC=2;AF=1.00;AN=2;DB;DP=99;FS=0.0;HRun=0;HaplotypeScore=433.0074;IndelType=D;MQ=56.98;MQ0=0;QD=48.5;SNPEFF_AMINO_ACID_CHANGE=SL163L;SNPEFF_CODON_CHANGE=tcctta/tta;SNPEFF_EFFECT=CODON_CHANGE_PLUS_CODON_DELETION;SNPEFF_EXON_ID=exon_1_247978102_247979031;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR14A16;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000357627 GT:AD:DP:GQ:PL 1/1:2,97:99:99:4801,286,0
1 247978996 rs10888249 A G 1307.51 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.69;SNPEFF_AMINO_ACID_CHANGE=L12;SNPEFF_CODON_CHANGE=ctT/ctC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_247978102_247979031;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR14A16;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000357627 GT:AD:DP:GQ:PL 1/1:0,40:40:96.32:1341,96,0
1 248004614 rs6667389 G A 3401.55 PASS AC=2;AF=1.00;AN=2;DB;DP=99;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=58.11;MQ0=0;QD=34.36;SNPEFF_AMINO_ACID_CHANGE=T195;SNPEFF_CODON_CHANGE=acC/acT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248004199_248005254;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR11L1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000355784 GT:AD:DP:GQ:PL 1/1:0,99:99:99:3402,250,0
1 248004687 rs10888255 C G 3707.82 PASS AC=2;AF=1.00;AN=2;DB;DP=121;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.6722;MQ=57.32;MQ0=0;QD=30.64;SNPEFF_AMINO_ACID_CHANGE=R171P;SNPEFF_CODON_CHANGE=cGc/cCc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248004199_248005254;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR11L1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000355784 GT:AD:DP:GQ:PL 1/1:0,121:121:99:3708,295,0
1 248004775 rs10888256 C T 2782.74 PASS AC=2;AF=1.00;AN=2;DB;DP=81;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.27;MQ0=0;QD=34.35;SNPEFF_AMINO_ACID_CHANGE=A142T;SNPEFF_CODON_CHANGE=Gcc/Acc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248004199_248005254;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR11L1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000355784 GT:AD:DP:GQ:PL 1/1:0,81:81:99:2816,214,0
1 248004848 rs4607924 G C 1200.46 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.67;MQ0=0;QD=34.3;SNPEFF_AMINO_ACID_CHANGE=F117L;SNPEFF_CODON_CHANGE=ttC/ttG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248004199_248005254;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR11L1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000355784 GT:AD:DP:GQ:PL 1/1:0,35:35:93.29:1233,93,0
1 248004877 rs10888257 C T 780.38 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.66;MQ0=0;QD=39.02;SNPEFF_AMINO_ACID_CHANGE=G108S;SNPEFF_CODON_CHANGE=Ggc/Agc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248004199_248005254;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR11L1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000355784 GT:AD:DP:GQ:PL 1/1:0,20:20:60.20:813,60,0
1 248004884 rs1339845 T C 707.59 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.66;MQ0=0;QD=35.38;SNPEFF_AMINO_ACID_CHANGE=V105;SNPEFF_CODON_CHANGE=gtA/gtG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248004199_248005254;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR11L1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000355784 GT:AD:DP:GQ:PL 1/1:0,20:20:57.17:741,57,0
1 248005213 rs7522811 G C 1035.85 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.5;MQ0=0;QD=33.41;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_1_248004199_248005254;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR11L1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355784 GT:AD:DP:GQ:PL 1/1:0,31:31:81.23:1069,81,0
1 248020556 rs11204523 G C 115.32 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=54.2;MQ0=0;QD=23.06;SNPEFF_AMINO_ACID_CHANGE=W3S;SNPEFF_CODON_CHANGE=tGg/tCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248020501_248020968;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRIM58;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366481 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:148,12,0
1 248028219 rs946696 G A 280.02 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.11;SNPEFF_AMINO_ACID_CHANGE=P243;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248028007_248028237;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRIM58;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000366481 GT:AD:DP:GQ:PL 1/1:0,9:9:24.07:313,24,0
1 248058755 rs1337876 A G 49.98 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.99;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2W3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000537741 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
1 248058797 rs1856248 T G 131.71 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.93;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2W3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000537741 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:164,12,0
1 248058845 rs4500353 A C 564.96 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;QD=35.31;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2W3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000537741 GT:AD:DP:GQ:PL 1/1:0,16:16:45.14:598,45,0
1 248058879 rs6587387 A T 795.34 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.81;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2W3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360358 GT:AD:DP:GQ:PL 1/1:0,25:25:60.19:828,60,0
1 248059423 rs10888267 C T 1549.22 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.09;MQ0=0;QD=30.38;SNPEFF_AMINO_ACID_CHANGE=R179C;SNPEFF_CODON_CHANGE=Cgt/Tgt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248058889_248059833;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2W3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000360358 GT:AD:DP:GQ:PL 1/1:0,51:51:99:1582,117,0
1 248059456 rs12135078 G A 1907.16 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.68;MQ0=0;QD=35.98;SNPEFF_AMINO_ACID_CHANGE=V190I;SNPEFF_CODON_CHANGE=Gtc/Atc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248058889_248059833;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2W3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000360358 GT:AD:DP:GQ:PL 1/1:0,53:53:99:1940,144,0
1 248059476 rs12139390 A C 1722.43 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.669;DB;DP=55;Dels=0.0;FS=4.102;HRun=0;HaplotypeScore=2.8304;MQ=58.73;MQ0=0;MQRankSum=1.039;QD=31.32;ReadPosRankSum=1.039;SNPEFF_AMINO_ACID_CHANGE=E196D;SNPEFF_CODON_CHANGE=gaA/gaC;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248058889_248059833;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2W3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000360358 GT:AD:DP:GQ:PL 1/1:1,54:55:98.79:1755,99,0
1 248059703 rs11204545 T A 1724.40 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.07;MQ0=0;QD=34.49;SNPEFF_AMINO_ACID_CHANGE=M272K;SNPEFF_CODON_CHANGE=aTg/aAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248058889_248059833;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2W3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000360358 GT:AD:DP:GQ:PL 1/1:0,50:50:99:1757,132,0
1 248059712 rs11204546 T C 1432.32 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.05;MQ0=0;QD=29.23;SNPEFF_AMINO_ACID_CHANGE=M275T;SNPEFF_CODON_CHANGE=aTg/aCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248058889_248059833;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2W3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000360358 GT:AD:DP:GQ:PL 1/1:0,49:49:99:1465,120,0
1 248059856 rs10888268 T C 280.58 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.18;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2W3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360358 GT:AD:DP:GQ:PL 1/1:0,9:9:24.08:314,24,0
1 248084434 rs11204563 G A 1024.08 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=32.78;MQ0=1;QD=22.76;SNPEFF_AMINO_ACID_CHANGE=G39S;SNPEFF_CODON_CHANGE=Ggc/Agc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248084320_248085258;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2T8;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000319968 GT:AD:DP:GQ:PL 1/1:0,45:45:93.21:1057,93,0
1 248084464 rs11204564 T C 796.29 MQFilter40 AC=2;AF=1.00;AN=2;BaseQRankSum=-1.942;DB;DP=53;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.6162;MQ=28.4;MQ0=1;MQRankSum=1.181;QD=15.02;ReadPosRankSum=-0.661;SNPEFF_AMINO_ACID_CHANGE=W49R;SNPEFF_CODON_CHANGE=Tgg/Cgg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248084320_248085258;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2T8;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000319968 GT:AD:DP:GQ:PL 1/1:4,49:53:31.84:829,32,0
1 248084609 rs140703773 C T 67.39 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=14.64;MQ0=11;QD=2.7;SNPEFF_AMINO_ACID_CHANGE=A97V;SNPEFF_CODON_CHANGE=gCg/gTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248084320_248085258;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2T8;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000319968 GT:AD:DP:GQ:PL 1/1:0,25:25:9.02:99,9,0
1 248084631 rs28689982 A C 54.75 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=13.23;MQ0=10;QD=2.28;SNPEFF_AMINO_ACID_CHANGE=T104;SNPEFF_CODON_CHANGE=acA/acC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248084320_248085258;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2T8;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000319968 GT:AD:DP:GQ:PL 1/1:0,24:24:9.01:87,9,0
1 248084825 rs61857492 C T 71.45 MQFilter40 AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.214;DB;DP=20;Dels=0.0;FS=6.99;HRun=0;HaplotypeScore=0.734;MQ=14.78;MQ0=10;MQRankSum=-0.895;QD=3.57;ReadPosRankSum=-1.214;SNPEFF_AMINO_ACID_CHANGE=A169V;SNPEFF_CODON_CHANGE=gCa/gTa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248084320_248085258;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2T8;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000319968 GT:AD:DP:GQ:PL 0/1:8,12:20:36.14:101,0,36
1 248084980 rs4362017 G T 94.49 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=9.55;MQ0=29;QD=2.86;SNPEFF_AMINO_ACID_CHANGE=A221S;SNPEFF_CODON_CHANGE=Gct/Tct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248084320_248085258;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2T8;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000319968 GT:AD:DP:GQ:PL 1/1:15,18:33:12.03:127,12,0
1 248085108 rs4625315 C T 1332.83 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=27.76;MQ0=13;QD=24.68;SNPEFF_AMINO_ACID_CHANGE=H263;SNPEFF_CODON_CHANGE=caC/caT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248084320_248085258;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2T8;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000319968 GT:AD:DP:GQ:PL 1/1:2,52:54:99:1366,117,0
1 248085341 rs4925773 T A 477.06 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=54.08;MQ0=0;QD=34.08;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2T8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000319968 GT:AD:DP:GQ:PL 1/1:0,14:14:39.12:510,39,0
1 248112627 rs4925787 T C 2252.98 PASS AB=0.265;AC=1;AF=0.50;AN=2;BaseQRankSum=-6.189;DB;DP=114;Dels=0.0;FS=1.002;HRun=0;HaplotypeScore=2.3656;MQ=49.6;MQ0=3;MQRankSum=6.522;QD=19.76;ReadPosRankSum=-1.959;SNPEFF_AMINO_ACID_CHANGE=C156;SNPEFF_CODON_CHANGE=tgT/tgC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248112160_248113098;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2L8;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000357191 GT:AD:DP:GQ:PL 0/1:30,83:114:99:2283,0,441
1 248112745 rs4925788 G T 1256.87 MQFilter40 AB=0.203;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.83;DB;DP=65;Dels=0.0;FS=16.057;HRun=0;HaplotypeScore=2.444;MQ=37.63;MQ0=5;MQRankSum=3.122;QD=19.34;ReadPosRankSum=-1.243;SNPEFF_AMINO_ACID_CHANGE=G196C;SNPEFF_CODON_CHANGE=Ggc/Tgc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248112160_248113098;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2L8;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000357191 GT:AD:DP:GQ:PL 0/1:13,51:65:99:1287,0,149
1 248112762 rs4925789 T C 678.06 MQFilter40;SnpCluster AB=0.15;AC=1;AF=0.50;AN=2;BaseQRankSum=1.731;DB;DP=60;Dels=0.0;FS=24.42;HRun=0;HaplotypeScore=4.1836;MQ=33.23;MQ0=4;MQRankSum=1.588;QD=11.3;ReadPosRankSum=0.68;SNPEFF_AMINO_ACID_CHANGE=S201;SNPEFF_CODON_CHANGE=agT/agC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248112160_248113098;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2L8;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000357191 GT:AD:DP:GQ:PL 0/1:9,51:60:60.27:708,0,60
1 248112763 rs4925790 G A 633.68 MQFilter40;SnpCluster AB=0.15;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.207;DB;DP=60;Dels=0.0;FS=25.455;HRun=0;HaplotypeScore=4.1836;MQ=33.91;MQ0=4;MQRankSum=2.106;QD=10.56;ReadPosRankSum=1.108;SNPEFF_AMINO_ACID_CHANGE=A202T;SNPEFF_CODON_CHANGE=Gcc/Acc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248112160_248113098;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2L8;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000357191 GT:AD:DP:GQ:PL 0/1:9,51:60:65.10:664,0,65
1 248112771 rs4925791 C T 1541.82 MQFilter40;SnpCluster AC=2;AF=1.00;AN=2;BaseQRankSum=1.042;DB;DP=64;Dels=0.0;FS=15.311;HRun=3;HaplotypeScore=5.182;MQ=36.58;MQ0=1;MQRankSum=2.142;QD=24.09;ReadPosRankSum=0.855;SNPEFF_AMINO_ACID_CHANGE=I204;SNPEFF_CODON_CHANGE=atC/atT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248112160_248113098;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2L8;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000357191 GT:AD:DP:GQ:PL 1/1:6,58:64:51.53:1575,52,0
1 248112809 rs4925583 A G 3332.06 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.615;DB;DP=111;Dels=0.0;FS=5.376;HRun=0;HaplotypeScore=2.8633;MQ=45.8;MQ0=3;MQRankSum=1.985;QD=30.02;ReadPosRankSum=1.544;SNPEFF_AMINO_ACID_CHANGE=Y217C;SNPEFF_CODON_CHANGE=tAt/tGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248112160_248113098;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2L8;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000357191 GT:AD:DP:GQ:PL 1/1:3,108:111:99:3332,234,0
1 248112836 rs4925792 A G 3665.87 PASS AC=2;AF=1.00;AN=2;DB;DP=122;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9789;MQ=48.71;MQ0=3;QD=30.05;SNPEFF_AMINO_ACID_CHANGE=H226R;SNPEFF_CODON_CHANGE=cAc/cGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248112160_248113098;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2L8;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000357191 GT:AD:DP:GQ:PL 1/1:1,121:122:99:3666,307,0
1 248113026 rs10888281 T A 3631.96 PASS AC=2;AF=1.00;AN=2;DB;DP=114;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9469;MQ=48.84;MQ0=1;QD=31.86;SNPEFF_AMINO_ACID_CHANGE=Y289*;SNPEFF_CODON_CHANGE=taT/taA;SNPEFF_EFFECT=STOP_GAINED;SNPEFF_EXON_ID=exon_1_248112160_248113098;SNPEFF_FUNCTIONAL_CLASS=NONSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2L8;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000357191 GT:AD:DP:GQ:PL 1/1:0,114:114:99:3632,283,0
1 248113040 rs10888282 A G 3122.21 PASS AC=2;AF=1.00;AN=2;DB;DP=106;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=47.48;MQ0=1;QD=29.45;SNPEFF_AMINO_ACID_CHANGE=K294R;SNPEFF_CODON_CHANGE=aAg/aGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248112160_248113098;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2L8;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000357191 GT:AD:DP:GQ:PL 1/1:0,106:106:99:3155,259,0
1 248113206 rs10888283 C G 437.31 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9665;MQ=57.07;MQ0=0;QD=33.64;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2L8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357191 GT:AD:DP:GQ:PL 1/1:0,13:13:36.12:470,36,0
1 248129240 rs4478844 G A 1651.60 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9933;MQ=59.05;MQ0=0;QD=33.71;SNPEFF_AMINO_ACID_CHANGE=V203M;SNPEFF_CODON_CHANGE=Gtg/Atg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248128535_248129641;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2AK2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366480 GT:AD:DP:GQ:PL 1/1:0,49:49:99:1685,132,0
1 248153683 rs139725484 A G 2322.21 PASS AB=0.484;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.19;DB;DP=161;Dels=0.0;FS=0.641;HRun=0;HaplotypeScore=0.9916;MQ=59.86;MQ0=0;MQRankSum=3.088;QD=14.42;ReadPosRankSum=-2.405;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2L13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366478 GT:AD:DP:GQ:PL 0/1:78,83:161:99:2352,0,2438
1 248224099 rs6666048 T C 3101.48 PASS AB=0.546;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.72;DB;DP=250;DS;Dels=0.0;FS=8.525;HRun=0;HaplotypeScore=6.0131;MQ=55.38;MQ0=0;MQRankSum=1.322;QD=12.41;ReadPosRankSum=-1.265;SNPEFF_AMINO_ACID_CHANGE=I39T;SNPEFF_CODON_CHANGE=aTt/aCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248223984_248224922;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2L3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000359959 GT:AD:DP:GQ:PL 0/1:136,113:250:99:3131,0,4581
1 248224216 rs6658227 C T 3129.71 PASS AB=0.546;AC=1;AF=0.50;AN=2;BaseQRankSum=3.641;DB;DP=249;DS;Dels=0.0;FS=9.316;HRun=1;HaplotypeScore=5.2366;MQ=57.0;MQ0=0;MQRankSum=2.493;QD=12.57;ReadPosRankSum=-0.274;SNPEFF_AMINO_ACID_CHANGE=P78L;SNPEFF_CODON_CHANGE=cCt/cTt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248223984_248224922;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2L3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000359959 GT:AD:DP:GQ:PL 0/1:136,113:249:99:3160,0,4572
1 248224294 rs6658256 C T 2188.77 PASS AB=0.552;AC=1;AF=0.50;AN=2;BaseQRankSum=2.773;DB;DP=204;DS;Dels=0.0;FS=5.261;HRun=1;HaplotypeScore=0.0;MQ=54.13;MQ0=5;MQRankSum=-2.405;QD=10.68;ReadPosRankSum=-1.133;SNPEFF_AMINO_ACID_CHANGE=S104L;SNPEFF_CODON_CHANGE=tCg/tTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248223984_248224922;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2L3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000359959 GT:AD:DP:GQ:PL 0/1:112,91:204:99:2219,0,3503
1 248224398 rs55937620 A G 1056.78 PASS AB=0.617;AC=1;AF=0.50;AN=2;BaseQRankSum=1.392;DB;DP=154;Dels=0.0;FS=3.218;HRun=0;HaplotypeScore=0.0;MQ=52.14;MQ0=3;MQRankSum=-6.025;QD=6.86;ReadPosRankSum=1.384;SNPEFF_AMINO_ACID_CHANGE=M139V;SNPEFF_CODON_CHANGE=Atg/Gtg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248223984_248224922;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2L3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000359959 GT:AD:DP:GQ:PL 0/1:95,59:154:99:1087,0,3210
1 248224489 rs56834114 A G 43.05 QDFilter2 AB=0.765;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.698;DB;DP=81;Dels=0.0;FS=28.66;HRun=0;HaplotypeScore=0.8321;MQ=50.47;MQ0=9;MQRankSum=-4.763;QD=0.53;ReadPosRankSum=0.969;SNPEFF_AMINO_ACID_CHANGE=Q169R;SNPEFF_CODON_CHANGE=cAa/cGa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248223984_248224922;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2L3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000359959 GT:AD:DP:GQ:PL 0/1:62,19:81:73.05:73,0,2176
1 248224569 rs75239130 G T 380.06 PASS AB=0.747;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.338;DB;DP=91;Dels=0.0;FS=7.558;HRun=0;HaplotypeScore=7.466;MQ=48.6;MQ0=7;MQRankSum=-5.223;QD=4.18;ReadPosRankSum=2.934;SNPEFF_AMINO_ACID_CHANGE=G196C;SNPEFF_CODON_CHANGE=Ggc/Tgc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248223984_248224922;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2L3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000359959 GT:AD:DP:GQ:PL 0/1:68,23:91:99:410,0,1960
1 248224595 rs76336532 C T 258.15 HaplotypeScoreFilter13 AB=0.798;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.774;DB;DP=104;Dels=0.0;FS=10.613;HRun=3;HaplotypeScore=25.8169;MQ=48.79;MQ0=10;MQRankSum=-4.79;QD=2.48;ReadPosRankSum=-1.014;SNPEFF_AMINO_ACID_CHANGE=I204;SNPEFF_CODON_CHANGE=atC/atT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248223984_248224922;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2L3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000359959 GT:AD:DP:GQ:PL 0/1:83,21:104:99:288,0,2296
1 248224754 rs55893924 T C 1941.04 PASS AB=0.477;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.412;DB;DP=153;Dels=0.0;FS=26.634;HRun=1;HaplotypeScore=0.9159;MQ=49.76;MQ0=10;MQRankSum=-0.157;QD=12.6;ReadPosRankSum=0.398;SNPEFF_AMINO_ACID_CHANGE=T257;SNPEFF_CODON_CHANGE=acT/acC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248223984_248224922;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2L3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000359959 GT:AD:DP:GQ:PL 0/1:73,80:153:99:1971,0,2103
1 248247308 rs61856418 A C 255.61 MQFilter40 AB=0.72;AC=1;AF=0.50;AN=2;BaseQRankSum=2.358;DB;DP=75;Dels=0.0;FS=3.851;HRun=1;HaplotypeScore=0.0;MQ=24.67;MQ0=4;MQRankSum=-1.115;QD=3.41;ReadPosRankSum=0.654;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2L13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366478 GT:AD:DP:GQ:PL 0/1:54,21:75:99:286,0,919
1 248247586 rs10788754 T G 801.18 MQFilter40;SnpCluster AB=0.301;AC=1;AF=0.50;AN=2;BaseQRankSum=2.961;DB;DP=105;Dels=0.0;FS=2.496;HRun=1;HaplotypeScore=0.8321;MQ=20.17;MQ0=41;MQRankSum=-1.945;QD=7.63;ReadPosRankSum=-0.702;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2L13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366478 GT:AD:DP:GQ:PL 0/1:31,72:105:99:831,0,289
1 248247588 . T A 267.18 MQFilter40;SnpCluster AB=0.759;AC=1;AF=0.50;AN=2;BaseQRankSum=1.157;DP=109;Dels=0.0;FS=5.111;HRun=0;HaplotypeScore=0.8321;MQ=20.29;MQ0=43;MQRankSum=2.142;QD=2.45;ReadPosRankSum=0.44;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2L13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366478 GT:AD:DP:GQ:PL 0/1:82,26:109:99:297,0,799
1 248247590 rs55839802 G A 812.24 MQFilter40;SnpCluster AB=0.305;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.628;DB;DP=105;Dels=0.0;FS=2.506;HRun=0;HaplotypeScore=0.8321;MQ=20.46;MQ0=43;MQRankSum=-1.7;QD=7.74;ReadPosRankSum=-0.879;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2L13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366478 GT:AD:DP:GQ:PL 0/1:32,73:105:99:842,0,293
1 248247592 rs28460545 G C 818.96 MQFilter40;SnpCluster AB=0.302;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.169;DB;DP=106;Dels=0.0;FS=2.613;HRun=0;HaplotypeScore=0.8321;MQ=20.25;MQ0=45;MQRankSum=-2.717;QD=7.73;ReadPosRankSum=-0.971;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2L13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366478 GT:AD:DP:GQ:PL 0/1:32,74:106:99:849,0,295
1 248247706 rs113076705 G A 546.08 PASS AB=0.673;AC=1;AF=0.50;AN=2;BaseQRankSum=0.518;DB;DP=98;Dels=0.0;FS=15.734;HRun=1;HaplotypeScore=1.7781;MQ=44.26;MQ0=9;MQRankSum=-0.916;QD=5.57;ReadPosRankSum=2.202;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2L13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366478 GT:AD:DP:GQ:PL 0/1:66,32:98:99:576,0,1955
1 248343543 rs9435919 C T 3310.97 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=3.499;DB;DP=227;DS;Dels=0.0;FS=2.338;HRun=1;HaplotypeScore=1.8055;MQ=50.46;MQ0=2;MQRankSum=-0.849;QD=14.59;ReadPosRankSum=0.406;SNPEFF_AMINO_ACID_CHANGE=L86;SNPEFF_CODON_CHANGE=Ctg/Ttg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248343288_248344331;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2M2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000359682 GT:AD:DP:GQ:PL 0/1:106,121:227:99:3311,0,3079
1 248343945 rs4244171 C G 907.56 PASS AB=0.704;AC=1;AF=0.50;AN=2;BaseQRankSum=1.337;DB;DP=159;Dels=0.0;FS=3.444;HRun=1;HaplotypeScore=1.8273;MQ=55.94;MQ0=8;MQRankSum=-2.805;QD=5.71;ReadPosRankSum=-2.783;SNPEFF_AMINO_ACID_CHANGE=R220G;SNPEFF_CODON_CHANGE=Cga/Gga;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248343288_248344331;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2M2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000359682 GT:AD:DP:GQ:PL 0/1:112,47:159:99:938,0,3370
1 248343990 rs4916104 T C 1137.40 PASS AB=0.634;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.77;DB;DP=153;Dels=0.0;FS=5.583;HRun=0;HaplotypeScore=3.6881;MQ=54.92;MQ0=8;MQRankSum=-2.559;QD=7.43;ReadPosRankSum=0.17;SNPEFF_AMINO_ACID_CHANGE=C235R;SNPEFF_CODON_CHANGE=Tgc/Cgc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248343288_248344331;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2M2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000359682 GT:AD:DP:GQ:PL 0/1:97,56:153:99:1167,0,3133
1 248344442 rs4916105 C T 298.52 PASS AB=0.438;AC=1;AF=0.50;AN=2;BaseQRankSum=2.964;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.106;QD=18.66;ReadPosRankSum=0.741;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2M2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359682 GT:AD:DP:GQ:PL 0/1:7,9:16:99:329,0,233
1 248366702 rs4916112 G A 3956.88 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=1.082;DB;DP=239;DS;Dels=0.0;FS=7.5;HRun=1;HaplotypeScore=1.9494;MQ=58.09;MQ0=0;MQRankSum=0.471;QD=16.56;ReadPosRankSum=-0.809;SNPEFF_AMINO_ACID_CHANGE=E111;SNPEFF_CODON_CHANGE=gaG/gaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248366332_248367392;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2M3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000456743 GT:AD:DP:GQ:PL 0/1:106,133:239:99:3957,0,3077
1 248367415 rs4916082 C T 441.25 PASS AB=0.381;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.123;DB;DP=21;Dels=0.0;FS=4.191;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.181;QD=21.01;ReadPosRankSum=-0.905;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2M3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456743 GT:AD:DP:GQ:PL 0/1:8,13:21:99:471,0,263
1 248402758 rs6666148 C T 1031.38 PASS AB=0.554;AC=1;AF=0.50;AN=2;BaseQRankSum=1.642;DB;DP=92;Dels=0.01;FS=0.0;HRun=5;HaplotypeScore=2.6308;MQ=59.75;MQ0=0;MQRankSum=0.134;QD=11.09;ReadPosRankSum=1.532;SNPEFF_AMINO_ACID_CHANGE=H176;SNPEFF_CODON_CHANGE=caC/caT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248402231_248403166;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2M4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000306687 GT:AD:DP:GQ:PL 0/1:51,41:92:99:1061,0,1582
1 248436456 rs142107755 C A 40.48 MQFilter40;QDFilter2 AB=0.8;AC=1;AF=0.50;AN=2;BaseQRankSum=1.252;DB;DP=55;Dels=0.0;FS=5.017;HRun=0;HaplotypeScore=0.734;MQ=23.52;MQ0=19;MQRankSum=-0.573;QD=0.74;ReadPosRankSum=1.677;SNPEFF_AMINO_ACID_CHANGE=A221S;SNPEFF_CODON_CHANGE=Gct/Tct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248436073_248437138;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2T33;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000318021 GT:AD:DP:GQ:PL 0/1:44,11:55:70.47:70,0,695
1 248436611 rs10888338 G A 394.73 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.933;DB;DP=84;Dels=0.0;FS=7.757;HRun=0;HaplotypeScore=12.2747;MQ=40.42;MQ0=11;MQRankSum=-0.447;QD=4.7;ReadPosRankSum=-1.546;SNPEFF_AMINO_ACID_CHANGE=A169V;SNPEFF_CODON_CHANGE=gCa/gTa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248436073_248437138;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2T33;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000318021 GT:AD:DP:GQ:PL 0/1:56,28:84:99:425,0,1420
1 248436616 rs71538179 A G 615.47 HaplotypeScoreFilter13 AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.086;DB;DP=87;Dels=0.0;FS=3.697;HRun=0;HaplotypeScore=13.2412;MQ=40.32;MQ0=11;MQRankSum=-4.669;QD=7.07;ReadPosRankSum=-2.218;SNPEFF_AMINO_ACID_CHANGE=C167;SNPEFF_CODON_CHANGE=tgT/tgC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248436073_248437138;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2T33;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000318021 GT:AD:DP:GQ:PL 0/1:41,46:87:99:645,0,1182
1 248436638 . A G 179.24 QDFilter2 AB=0.776;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.481;DP=100;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.367;MQ=40.39;MQ0=11;MQRankSum=-5.501;QD=1.77;ReadPosRankSum=-1.526;SNPEFF_AMINO_ACID_CHANGE=V160A;SNPEFF_CODON_CHANGE=gTt/gCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248436073_248437138;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2T33;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000318021 GT:AD:DP:GQ:PL 0/1:76,22:100:99:209,0,2101
1 248436805 rs28399248 T G 1567.01 HaplotypeScoreFilter13;MQFilter40;SnpCluster AB=0.303;AC=1;AF=0.50;AN=2;BaseQRankSum=4.145;DB;DP=152;Dels=0.0;FS=5.101;HRun=1;HaplotypeScore=84.4387;MQ=28.61;MQ0=21;MQRankSum=-1.488;QD=10.31;ReadPosRankSum=0.122;SNPEFF_AMINO_ACID_CHANGE=T104;SNPEFF_CODON_CHANGE=acA/acC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248436073_248437138;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2T33;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000318021 GT:AD:DP:GQ:PL 0/1:46,106:152:99:1597,0,854
1 248436809 rs61832700 G A 567.63 HaplotypeScoreFilter13;MQFilter40;SnpCluster AB=0.611;AC=1;AF=0.50;AN=2;BaseQRankSum=0.762;DB;DP=149;Dels=0.0;FS=30.896;HRun=0;HaplotypeScore=83.4809;MQ=28.65;MQ0=21;MQRankSum=-3.109;QD=3.81;ReadPosRankSum=1.455;SNPEFF_AMINO_ACID_CHANGE=P103L;SNPEFF_CODON_CHANGE=cCc/cTc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248436073_248437138;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2T33;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000318021 GT:AD:DP:GQ:PL 0/1:91,58:149:99:598,0,1904
1 248436811 rs61832701 G C 559.88 HaplotypeScoreFilter13;MQFilter40;SnpCluster AB=0.631;AC=1;AF=0.50;AN=2;BaseQRankSum=0.071;DB;DP=149;Dels=0.0;FS=28.268;HRun=0;HaplotypeScore=80.7742;MQ=29.11;MQ0=21;MQRankSum=-2.39;QD=3.76;ReadPosRankSum=2.38;SNPEFF_AMINO_ACID_CHANGE=L102;SNPEFF_CODON_CHANGE=ctC/ctG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248436073_248437138;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2T33;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000318021 GT:AD:DP:GQ:PL 0/1:94,55:149:99:590,0,2015
1 248457979 rs6667171 C A 1749.44 PASS AB=0.418;AC=1;AF=0.50;AN=2;BaseQRankSum=6.286;DB;DP=92;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=59.01;MQ0=0;MQRankSum=0.674;QD=19.02;ReadPosRankSum=1.409;SNPEFF_AMINO_ACID_CHANGE=R301L;SNPEFF_CODON_CHANGE=cGg/cTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248457918_248458880;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2T12;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000317996 GT:AD:DP:GQ:PL 0/1:38,53:92:99:1779,0,1107
1 248458689 rs6674940 A G 91.59 QDFilter2 AB=0.792;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.402;DB;DP=72;Dels=0.0;FS=22.014;HRun=0;HaplotypeScore=0.0;MQ=40.83;MQ0=5;MQRankSum=-2.003;QD=1.27;ReadPosRankSum=-0.657;SNPEFF_AMINO_ACID_CHANGE=L64;SNPEFF_CODON_CHANGE=ctT/ctC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248457918_248458880;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2T12;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000317996 GT:AD:DP:GQ:PL 0/1:57,15:72:99:122,0,1382
1 248458717 rs12745228 C G 205.52 PASS AB=0.726;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.929;DB;DP=73;Dels=0.0;FS=14.848;HRun=0;HaplotypeScore=0.8321;MQ=46.56;MQ0=3;MQRankSum=-2.153;QD=2.82;ReadPosRankSum=-0.751;SNPEFF_AMINO_ACID_CHANGE=R55T;SNPEFF_CODON_CHANGE=aGg/aCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248457918_248458880;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2T12;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000317996 GT:AD:DP:GQ:PL 0/1:53,20:73:99:236,0,1491
1 248458974 rs11204626 T A 323.16 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.605;DB;DP=26;Dels=0.0;FS=4.925;HRun=1;HaplotypeScore=0.0;MQ=57.82;MQ0=0;MQRankSum=-0.517;QD=12.43;ReadPosRankSum=-0.136;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2T12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317996 GT:AD:DP:GQ:PL 0/1:13,13:26:99:353,0,377
1 248486895 rs4244184 G T 480.31 PASS AB=0.393;AC=1;AF=0.50;AN=2;BaseQRankSum=3.34;DB;DP=28;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.753;QD=17.15;ReadPosRankSum=-0.282;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2M7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317965 GT:AD:DP:GQ:PL 0/1:11,17:28:99:510,0,318
1 248486913 rs4244185 A G 392.90 PASS AB=0.543;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.401;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=-1.838;QD=11.23;ReadPosRankSum=1.54;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2M7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317965 GT:AD:DP:GQ:PL 0/1:19,16:35:99:423,0,497
1 248487300 rs4916129 C T 2771.74 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.244;DB;DP=180;Dels=0.0;FS=1.871;HRun=1;HaplotypeScore=4.5145;MQ=48.76;MQ0=2;MQRankSum=-6.338;QD=15.4;ReadPosRankSum=1.756;SNPEFF_AMINO_ACID_CHANGE=D191N;SNPEFF_CODON_CHANGE=Gac/Aac;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248486894_248487899;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2M7;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000317965 GT:AD:DP:GQ:PL 0/1:80,100:180:99:2802,0,2530
1 248487338 rs4916130 C A 2272.02 PASS AB=0.459;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.535;DB;DP=170;Dels=0.0;FS=1.95;HRun=1;HaplotypeScore=1.612;MQ=49.36;MQ0=2;MQRankSum=-7.259;QD=13.36;ReadPosRankSum=0.552;SNPEFF_AMINO_ACID_CHANGE=C178F;SNPEFF_CODON_CHANGE=tGc/tTc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248486894_248487899;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2M7;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000317965 GT:AD:DP:GQ:PL 0/1:78,92:170:99:2302,0,2463
1 248487638 rs7555310 A G 2647.53 PASS AB=0.517;AC=1;AF=0.50;AN=2;BaseQRankSum=2.827;DB;DP=206;Dels=0.0;FS=1.746;HRun=0;HaplotypeScore=5.9772;MQ=59.19;MQ0=2;MQRankSum=-0.375;QD=12.85;ReadPosRankSum=-0.227;SNPEFF_AMINO_ACID_CHANGE=V78A;SNPEFF_CODON_CHANGE=gTa/gCa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248486894_248487899;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2M7;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000317965 GT:AD:DP:GQ:PL 0/1:106,99:206:99:2678,0,3207
1 248487768 rs7555424 A G 2404.20 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.795;DB;DP=180;Dels=0.0;FS=5.309;HRun=1;HaplotypeScore=4.3687;MQ=59.2;MQ0=0;MQRankSum=-1.644;QD=13.36;ReadPosRankSum=0.823;SNPEFF_AMINO_ACID_CHANGE=F35L;SNPEFF_CODON_CHANGE=Ttt/Ctt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248486894_248487899;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2M7;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000317965 GT:AD:DP:GQ:PL 0/1:90,90:180:99:2434,0,3002
1 248512064 rs28372410 T G 616.79 PASS AB=0.597;AC=1;AF=0.50;AN=2;BaseQRankSum=0.475;DB;DP=62;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=-1.803;QD=9.95;ReadPosRankSum=-0.883;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR14C36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317861 GT:AD:DP:GQ:PL 0/1:37,25:62:99:647,0,1169
1 248512094 rs28728105 C T 783.94 PASS AB=0.654;AC=1;AF=0.50;AN=2;BaseQRankSum=1.254;DB;DP=78;Dels=0.0;FS=2.119;HRun=0;HaplotypeScore=0.9159;MQ=60.0;MQ0=0;MQRankSum=-0.069;QD=10.05;ReadPosRankSum=-0.635;SNPEFF_AMINO_ACID_CHANGE=T6;SNPEFF_CODON_CHANGE=acC/acT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248512077_248513015;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR14C36;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000317861 GT:AD:DP:GQ:PL 0/1:51,27:78:99:814,0,1542
1 248512637 rs2039824 C T 869.43 PASS AB=0.508;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.205;DB;DP=59;Dels=0.0;FS=0.99;HRun=1;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=-0.948;QD=14.74;ReadPosRankSum=0.371;SNPEFF_AMINO_ACID_CHANGE=C187;SNPEFF_CODON_CHANGE=tgC/tgT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248512077_248513015;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR14C36;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000317861 GT:AD:DP:GQ:PL 0/1:30,29:59:99:899,0,893
1 248512749 rs28377739 G A 751.19 PASS AB=0.509;AC=1;AF=0.50;AN=2;BaseQRankSum=3.304;DB;DP=55;Dels=0.0;FS=3.998;HRun=0;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=-0.173;QD=13.66;ReadPosRankSum=1.678;SNPEFF_AMINO_ACID_CHANGE=G225R;SNPEFF_CODON_CHANGE=Ggg/Agg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248512077_248513015;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR14C36;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000317861 GT:AD:DP:GQ:PL 0/1:28,27:55:99:781,0,827
1 248512767 rs28545014 G T 751.15 PASS AB=0.509;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.649;DB;DP=53;Dels=0.0;FS=2.556;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.81;QD=14.17;ReadPosRankSum=0.187;SNPEFF_AMINO_ACID_CHANGE=D231Y;SNPEFF_CODON_CHANGE=Gac/Tac;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248512077_248513015;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR14C36;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000317861 GT:AD:DP:GQ:PL 0/1:27,26:53:99:781,0,849
1 248513023 rs28607995 G A 1333.52 PASS AB=0.494;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.517;DB;DP=88;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=4.4013;MQ=60.0;MQ0=0;MQRankSum=0.87;QD=15.15;ReadPosRankSum=0.301;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR14C36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317861 GT:AD:DP:GQ:PL 0/1:43,44:88:99:1364,0,1394
1 248513088 rs28481429 G C 577.30 PASS AB=0.472;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.616;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-2.535;QD=16.04;ReadPosRankSum=-0.222;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR14C36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317861 GT:AD:DP:GQ:PL 0/1:17,19:36:99:607,0,602
1 248524648 rs1544176 G A 78.52 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=6.021;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.727;QD=19.63;ReadPosRankSum=-0.727;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2T4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366475 GT:AD:DP:GQ:PL 0/1:1,3:4:30.61:109,0,31
1 248524683 rs1544177 C G 36.84 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.231;QD=7.37;ReadPosRankSum=-0.358;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2T4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366475 GT:AD:DP:GQ:PL 0/1:3,2:5:66.83:67,0,102
1 248525638 rs34079073 CA C 1692.80 PASS AB=0.699;AC=1;AF=0.50;AN=2;BaseQRankSum=7.562;DB;DP=121;FS=1.463;HRun=1;HaplotypeScore=327.3174;IndelType=D;MQ=58.89;MQ0=0;MQRankSum=1.752;QD=13.99;ReadPosRankSum=-1.483;SNPEFF_EFFECT=FRAME_SHIFT;SNPEFF_EXON_ID=exon_1_248524883_248525929;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2T4;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000366475 GT:AD:DP:GQ:PL 0/1:69,52:121:99:1732,0,2910
1 248550976 rs6587467 T G 727.27 PASS AB=0.565;AC=1;AF=0.50;AN=2;BaseQRankSum=1.794;DB;DP=62;Dels=0.0;FS=1.017;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.374;QD=11.73;ReadPosRankSum=0.435;SNPEFF_AMINO_ACID_CHANGE=C23G;SNPEFF_CODON_CHANGE=Tgc/Ggc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248550910_248551836;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2T6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000355728 GT:AD:DP:GQ:PL 0/1:35,27:62:99:757,0,1031
1 248569282 rs28667896 A G 460.76 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=1.505;DB;DP=45;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9958;MQ=60.0;MQ0=0;MQRankSum=-0.686;QD=10.24;ReadPosRankSum=-0.855;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2T1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366474 GT:AD:DP:GQ:PL 0/1:30,15:45:99:491,0,1011
1 248569369 rs28599722 A G 1079.01 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.797;DB;DP=80;Dels=0.0;FS=6.533;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.245;QD=13.49;ReadPosRankSum=-0.313;SNPEFF_AMINO_ACID_CHANGE=H25R;SNPEFF_CODON_CHANGE=cAt/cGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248569296_248570405;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2T1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366474 GT:AD:DP:GQ:PL 0/1:40,40:80:99:1109,0,1322
1 248570440 rs6695780 G A 375.68 PASS AB=0.567;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.022;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=57.66;MQ0=0;MQRankSum=-0.855;QD=12.52;ReadPosRankSum=-1.688;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2T1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366474 GT:AD:DP:GQ:PL 0/1:17,13:30:99:406,0,476
1 248570551 rs77025916 A AGAGT 350.27 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=1.92;DB;DP=8;FS=0.0;HRun=0;HaplotypeScore=48.2326;IndelType=I;MQ=43.31;MQ0=0;MQRankSum=-1.92;QD=43.78;ReadPosRankSum=0.322;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2T1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366474 GT:AD:DP:GQ:PL 0/1:3,5:8:99:389,0,165
1 248570553 . A AT 155.14 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=1.92;DP=8;FS=0.0;HRun=1;HaplotypeScore=53.2965;IndelType=I;MQ=43.31;MQ0=0;MQRankSum=-1.92;QD=19.39;ReadPosRankSum=0.684;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2T1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366474 GT:AD:DP:GQ:PL 0/1:3,5:8:99:194,0,102
1 248604614 . A T 129.16 MQFilter40 AB=0.63;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.489;DP=27;Dels=0.0;FS=2.447;HRun=0;HaplotypeScore=0.6651;MQ=27.01;MQ0=7;MQRankSum=-1.2;QD=4.78;ReadPosRankSum=0.044;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP11-407H12.4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460972 GT:AD:DP:GQ:PL 0/1:17,10:27:99:159,0,232
1 248604765 rs144165631 T A 428.23 MQFilter40 AB=0.365;AC=1;AF=0.50;AN=2;BaseQRankSum=2.17;DB;DP=52;Dels=0.0;FS=2.593;HRun=0;HaplotypeScore=1.6584;MQ=16.88;MQ0=22;MQRankSum=0.056;QD=8.24;ReadPosRankSum=-0.779;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP11-407H12.4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460972 GT:AD:DP:GQ:PL 0/1:19,33:52:39.34:458,0,39
1 248605436 rs71642447 C G 330.75 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=32.44;MQ0=3;QD=22.05;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP11-407H12.4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460972 GT:AD:DP:GQ:PL 1/1:0,15:15:30.09:364,30,0
1 248605442 rs71642448 G T 294.99 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=27.83;MQ0=3;QD=22.69;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP11-407H12.4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460972 GT:AD:DP:GQ:PL 1/1:0,13:13:27.08:328,27,0
1 248651927 . A G 526.19 MQFilter40 AC=2;AF=1.00;AN=2;DP=95;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=11.87;MQ0=61;QD=5.54;SNPEFF_AMINO_ACID_CHANGE=K13R;SNPEFF_CODON_CHANGE=aAg/aGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248651885_248652898;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2T5;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000366473 GT:AD:DP:GQ:PL 1/1:0,93:95:63.02:559,63,0
1 248685253 rs9727474 T C 1556.60 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9734;MQ=59.56;MQ0=0;QD=29.93;SNPEFF_AMINO_ACID_CHANGE=Y102;SNPEFF_CODON_CHANGE=taT/taC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248684916_248685964;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2G6;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000343414 GT:AD:DP:GQ:PL 1/1:0,52:52:99:1590,123,0
1 248722722 . T C 340.45 MQFilter40 AC=2;AF=1.00;AN=2;DP=98;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=10.29;MQ0=68;QD=3.47;SNPEFF_AMINO_ACID_CHANGE=Q24R;SNPEFF_CODON_CHANGE=cAa/cGa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248721784_248722797;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2T29;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000328570 GT:AD:DP:GQ:PL 1/1:0,98:98:42.01:373,42,0
1 248737259 rs189248971 C G 589.58 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=24.21;MQ0=9;QD=18.42;SNPEFF_AMINO_ACID_CHANGE=R267P;SNPEFF_CODON_CHANGE=cGg/cCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248737022_248738080;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2T34;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000328782 GT:AD:DP:GQ:PL 1/1:0,32:32:57.14:623,57,0
1 248738133 . A G 415.08 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=1.893;DP=40;Dels=0.0;FS=7.533;HRun=0;HaplotypeScore=0.0;MQ=42.21;MQ0=3;MQRankSum=-2.695;QD=10.38;ReadPosRankSum=-2.278;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2T34;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328782 GT:AD:DP:GQ:PL 0/1:21,18:40:99:445,0,652
1 248789454 rs1892441 G C 729.52 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.74;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2T11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000330803 GT:AD:DP:GQ:PL 1/1:0,21:21:57.19:763,57,0
1 248789504 rs1892442 T C 1706.62 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.62;MQ0=0;QD=34.83;SNPEFF_AMINO_ACID_CHANGE=Q309R;SNPEFF_CODON_CHANGE=cAg/cGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248789420_248790491;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2T11;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000330803 GT:AD:DP:GQ:PL 1/1:0,49:49:99:1740,129,0
1 248790075 rs1892443 A G 1009.51 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.65;SNPEFF_AMINO_ACID_CHANGE=C119R;SNPEFF_CODON_CHANGE=Tgc/Cgc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248789420_248790491;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2T11;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000330803 GT:AD:DP:GQ:PL 1/1:0,30:30:81.25:1043,81,0
1 248801944 rs143010547 TCAGCACG T 474.07 PASS AC=2;AF=1.00;AN=2;DB;DP=12;FS=0.0;HRun=0;HaplotypeScore=92.3888;IndelType=D;MQ=19.61;MQ0=12;QD=16.35;SNPEFF_EFFECT=FRAME_SHIFT;SNPEFF_EXON_ID=exon_1_248801588_248802559;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2T35;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000317450 GT:AD:DP:GQ:PL 1/1:19,10:12:24.08:516,24,0
1 248802763 rs77518069 C T 87.98 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=37.0;MQ0=0;QD=29.33;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2T35;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317450 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:120,9,0
1 248813135 rs4916153 G A 336.59 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.107;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.46;MQ0=1;MQRankSum=1.423;QD=28.05;ReadPosRankSum=1.423;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2T27;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344889 GT:AD:DP:GQ:PL 1/1:2,10:12:5.43:368,5,0
1 248813827 rs1782241 T C 128.24 MQFilter40;QDFilter2 AB=0.59;AC=1;AF=0.50;AN=2;BaseQRankSum=0.074;DB;DP=79;Dels=0.0;FS=14.231;HRun=0;HaplotypeScore=0.0;MQ=18.64;MQ0=38;MQRankSum=-2.815;QD=1.62;ReadPosRankSum=3.143;SNPEFF_AMINO_ACID_CHANGE=Y120C;SNPEFF_CODON_CHANGE=tAt/tGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248813232_248814185;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2T27;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000344889 GT:AD:DP:GQ:PL 0/1:46,32:79:99:158,0,626
1 248813901 rs144600224 A T 53.56 MQFilter40;QDFilter2 AB=0.724;AC=1;AF=0.50;AN=2;BaseQRankSum=0.959;DB;DP=59;Dels=0.0;FS=5.521;HRun=0;HaplotypeScore=0.0;MQ=18.32;MQ0=29;MQRankSum=-0.648;QD=0.91;ReadPosRankSum=1.063;SNPEFF_AMINO_ACID_CHANGE=A95;SNPEFF_CODON_CHANGE=gcT/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248813232_248814185;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2T27;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000344889 GT:AD:DP:GQ:PL 0/1:42,16:59:83.56:84,0,519
1 248813972 rs147604785 G A 88.96 MQFilter40;QDFilter2 AB=0.814;AC=1;AF=0.50;AN=2;BaseQRankSum=1.916;DB;DP=59;Dels=0.0;FS=17.842;HRun=1;HaplotypeScore=0.8941;MQ=20.96;MQ0=26;MQRankSum=-1.123;QD=1.51;ReadPosRankSum=-1.035;SNPEFF_AMINO_ACID_CHANGE=L72;SNPEFF_CODON_CHANGE=Ctg/Ttg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248813232_248814185;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2T27;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000344889 GT:AD:DP:GQ:PL 0/1:48,11:59:99:119,0,656
1 248814052 rs28533004 T A 453.77 MQFilter40 AB=0.549;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.274;DB;DP=51;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=35.23;MQ0=9;MQRankSum=2.258;QD=8.9;ReadPosRankSum=1.831;SNPEFF_AMINO_ACID_CHANGE=K45M;SNPEFF_CODON_CHANGE=aAg/aTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248813232_248814185;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2T27;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000344889 GT:AD:DP:GQ:PL 0/1:28,23:51:99:484,0,571
1 248814080 rs1782242 A C 1314.53 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=42.92;MQ0=3;QD=27.97;SNPEFF_AMINO_ACID_CHANGE=L36V;SNPEFF_CODON_CHANGE=Ttg/Gtg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248813232_248814185;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2T27;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000344889 GT:AD:DP:GQ:PL 1/1:0,47:47:99:1348,105,0
1 248814126 rs28418327 G A 811.12 PASS AB=0.418;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.361;DB;DP=55;Dels=0.0;FS=7.171;HRun=0;HaplotypeScore=0.0;MQ=44.83;MQ0=3;MQRankSum=0.12;QD=14.75;ReadPosRankSum=-0.028;SNPEFF_AMINO_ACID_CHANGE=N20;SNPEFF_CODON_CHANGE=aaC/aaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248813232_248814185;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR2T27;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000344889 GT:AD:DP:GQ:PL 0/1:23,32:55:99:841,0,615
1 248845097 rs2000390 C T 1320.19 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.68;SNPEFF_AMINO_ACID_CHANGE=S170N;SNPEFF_CODON_CHANGE=aGt/aAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248844628_248845629;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR14I1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000342623 GT:AD:DP:GQ:PL 1/1:0,37:37:99:1353,99,0
1 248845411 rs11485825 G A 1059.08 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.5;MQ0=0;QD=34.16;SNPEFF_AMINO_ACID_CHANGE=S65;SNPEFF_CODON_CHANGE=tcC/tcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248844628_248845629;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR14I1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000342623 GT:AD:DP:GQ:PL 1/1:0,31:31:81.26:1092,81,0
1 248845458 rs4509608 C T 1910.18 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.83;MQ0=0;QD=35.37;SNPEFF_AMINO_ACID_CHANGE=D50N;SNPEFF_CODON_CHANGE=Gat/Aat;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248844628_248845629;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR14I1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000342623 GT:AD:DP:GQ:PL 1/1:0,54:54:99:1943,144,0
1 248845471 rs4575113 T C 1721.19 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.2;MQ0=0;QD=33.1;SNPEFF_AMINO_ACID_CHANGE=A45;SNPEFF_CODON_CHANGE=gcA/gcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248844628_248845629;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR14I1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000342623 GT:AD:DP:GQ:PL 1/1:0,51:52:99:1754,132,0
1 248845499 rs4462184 A G 2019.01 PASS AC=2;AF=1.00;AN=2;DB;DP=71;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.69;MQ0=0;QD=28.44;SNPEFF_AMINO_ACID_CHANGE=V36A;SNPEFF_CODON_CHANGE=gTg/gCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_1_248844628_248845629;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR14I1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000342623 GT:AD:DP:GQ:PL 1/1:0,70:71:99:2052,162,0
1 249107065 rs75254356 C T 86.55 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.31;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SH3BP5L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000494837 GT:AD:DP:GQ:PL 1/1:0,5:5:9.03:119,9,0
1 249110906 rs4926508 G C 1561.12 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.6651;MQ=59.5;MQ0=0;QD=33.94;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SH3BP5L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366472 GT:AD:DP:GQ:PL 1/1:0,46:46:99:1594,126,0
1 249230837 . G A 58.52 MQFilter40;QDFilter2 AB=0.821;AC=1;AF=0.50;AN=2;BaseQRankSum=0.56;DP=56;Dels=0.0;FS=5.441;HRun=2;HaplotypeScore=0.0;MQ=11.5;MQ0=35;MQRankSum=2.648;QD=1.04;ReadPosRankSum=-1.007;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=AL672183.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000430973 GT:AD:DP:GQ:PL 0/1:46,10:56:88.51:89,0,108
2 45895 rs4241318 A G 31.45 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=15.72;SNPEFF_AMINO_ACID_CHANGE=I164T;SNPEFF_CODON_CHANGE=aTc/aCc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_45440_46385;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM110C;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000327669 GT:AD:DP:GQ:PL 1/1:0,2:2:6:63,6,0
2 224919 rs2290911 A G 935.59 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=4.287;DB;DP=80;Dels=0.0;FS=0.849;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.466;QD=11.69;ReadPosRankSum=-1.28;SNPEFF_AMINO_ACID_CHANGE=S165;SNPEFF_CODON_CHANGE=agT/agC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_224864_224920;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SH3YL1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000415006 GT:AD:DP:GQ:PL 0/1:45,35:80:99:966,0,1483
2 224970 rs2290912 C T 1531.47 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.03;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SH3YL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000431160 GT:AD:DP:GQ:PL 1/1:0,45:45:99:1564,114,0
2 230912 rs2306060 A C 273.64 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.884;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.177;QD=18.24;ReadPosRankSum=-0.53;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SH3YL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000454318 GT:AD:DP:GQ:PL 0/1:6,9:15:99:304,0,204
2 234130 rs3748872 T G 904.70 PASS AB=0.551;AC=1;AF=0.50;AN=2;BaseQRankSum=2.112;DB;DP=69;Dels=0.0;FS=1.298;HRun=0;HaplotypeScore=0.6651;MQ=59.67;MQ0=0;MQRankSum=-0.662;QD=13.11;ReadPosRankSum=0.675;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SH3YL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356150 GT:AD:DP:GQ:PL 0/1:38,31:69:99:935,0,1185
2 262553 rs7596678 T C 1279.55 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.94;MQ0=0;QD=37.63;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SH3YL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356150 GT:AD:DP:GQ:PL 1/1:0,34:34:99:1313,99,0
2 264019 rs7595075 C A 79.86 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=19.96;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SH3YL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000402632 GT:AD:DP:GQ:PL 0/1:1,3:4:26.54:110,0,27
2 264895 rs4854300 G C 764.31 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.74;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_2_264872_265007;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ACP1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000272065 GT:AD:DP:GQ:PL 1/1:0,22:22:63.18:797,63,0
2 271797 rs59937473 G A 577.04 PASS AB=0.463;AC=1;AF=0.50;AN=2;BaseQRankSum=0.921;DB;DP=42;Dels=0.0;FS=1.478;HRun=3;HaplotypeScore=0.9665;MQ=58.33;MQ0=0;MQRankSum=1.056;QD=13.74;ReadPosRankSum=-1.219;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ACP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272065 GT:AD:DP:GQ:PL 0/1:19,22:42:99:607,0,623
2 271998 rs34887991 CA C 153.35 PASS AB=0.709;AC=1;AF=0.50;AN=2;BaseQRankSum=0.121;DB;DP=56;FS=2.454;HRun=16;HaplotypeScore=395.037;IndelType=D;MQ=55.27;MQ0=0;MQRankSum=0.275;QD=2.74;ReadPosRankSum=1.418;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ACP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272065 GT:AD:DP:GQ:PL 0/1:26,17:56:99:192,0,375
2 272203 rs11553746 C T 915.64 PASS AB=0.404;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.932;DB;DP=52;Dels=0.0;FS=3.949;HRun=0;HaplotypeScore=0.0;MQ=57.75;MQ0=0;MQRankSum=0.988;QD=17.61;ReadPosRankSum=1.678;SNPEFF_AMINO_ACID_CHANGE=T53I;SNPEFF_CODON_CHANGE=aCa/aTa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_272192_273155;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ACP1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000405233 GT:AD:DP:GQ:PL 0/1:21,31:52:99:946,0,642
2 276908 rs7568288 C G 660.57 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.43;MQ0=0;QD=34.77;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ACP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000405233 GT:AD:DP:GQ:PL 1/1:0,19:19:54.16:694,54,0
2 276942 rs7573495 A G 189.32 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.362;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.55;MQ0=0;MQRankSum=-0.157;QD=7.89;ReadPosRankSum=-0.535;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ACP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000405233 GT:AD:DP:GQ:PL 0/1:15,9:24:99:219,0,442
2 277003 rs79716074 A G 485.73 PASS AB=0.542;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.748;DB;DP=48;Dels=0.0;FS=1.129;HRun=0;HaplotypeScore=0.0;MQ=59.77;MQ0=0;MQRankSum=-0.072;QD=10.12;ReadPosRankSum=0.61;SNPEFF_AMINO_ACID_CHANGE=Q106R;SNPEFF_CODON_CHANGE=cAa/cGa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_276980_277085;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ACP1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000272065 GT:AD:DP:GQ:PL 0/1:26,22:48:99:516,0,766
2 283231 rs11452150 A AT 538.01 PASS AC=2;AF=1.00;AN=2;DB;DP=19;FS=0.0;HRun=7;HaplotypeScore=42.4729;IndelType=I;MQ=60.57;MQ0=0;QD=28.32;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ACP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272065 GT:AD:DP:GQ:PL 1/1:3,16:19:48.15:580,48,0
2 672976 rs58078949 A G 40.96 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=10.24;ReadPosRankSum=-1.026;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM18;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418447 GT:AD:DP:GQ:PL 0/1:2,2:4:70.20:71,0,70
2 676457 rs2293082 G C 74.51 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=51.77;MQ0=0;QD=24.84;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM18;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281017 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:107,9,0
2 676782 rs73153267 C A 33.58 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9916;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=8.39;ReadPosRankSum=1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM18;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281017 GT:AD:DP:GQ:PL 0/1:2,2:4:42.32:64,0,42
2 677213 rs3749138 G A 289.04 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.13;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM18;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281017 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:322,24,0
2 677295 rs3210390 C T 93.65 PASS AB=0.706;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.528;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.58;QD=5.51;ReadPosRankSum=-0.791;SNPEFF_AMINO_ACID_CHANGE=V17;SNPEFF_CODON_CHANGE=gtG/gtA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_677289_677439;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM18;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000281017 GT:AD:DP:GQ:PL 0/1:12,5:17:99:124,0,329
2 905393 rs113854668 C G 1268.71 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.6643;MQ=49.18;MQ0=1;QD=32.53;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=antisense;SNPEFF_GENE_NAME=AC113607.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427019 GT:AD:DP:GQ:PL 1/1:0,39:39:99:1302,108,0
2 905399 rs111252196 T G 1024.49 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.139;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.453;MQ=48.27;MQ0=1;MQRankSum=1.634;QD=28.46;ReadPosRankSum=-1.04;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=antisense;SNPEFF_GENE_NAME=AC113607.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427019 GT:AD:DP:GQ:PL 1/1:2,34:36:84.23:1057,84,0
2 905427 rs113411033 C G 347.83 MQFilter40 AC=2;AF=1.00;AN=2;BaseQRankSum=1.678;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=39.83;MQ0=4;MQRankSum=2.073;QD=18.31;ReadPosRankSum=-2.27;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=antisense;SNPEFF_GENE_NAME=AC113607.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427019 GT:AD:DP:GQ:PL 1/1:4,15:19:30.09:381,30,0
2 905492 rs62103943 T A 588.12 MQFilter40 AB=0.59;AC=1;AF=0.50;AN=2;BaseQRankSum=1.312;DB;DP=84;Dels=0.0;FS=29.728;HRun=0;HaplotypeScore=2.2019;MQ=29.43;MQ0=21;MQRankSum=3.704;QD=7.0;ReadPosRankSum=-5.545;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=antisense;SNPEFF_GENE_NAME=AC113607.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427019 GT:AD:DP:GQ:PL 0/1:36,25:84:99:618,0,458
2 905497 rs111536265 C T 413.92 MQFilter40 AB=0.593;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.454;DB;DP=91;Dels=0.0;FS=22.879;HRun=1;HaplotypeScore=3.034;MQ=30.79;MQ0=21;MQRankSum=-2.839;QD=4.55;ReadPosRankSum=5.467;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=antisense;SNPEFF_GENE_NAME=AC113607.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427019 GT:AD:DP:GQ:PL 0/1:54,37:91:99:444,0,849
2 905525 rs111963287 T G 1200.49 MQFilter40 AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.303;DB;DP=143;Dels=0.0;FS=43.405;HRun=0;HaplotypeScore=2.2421;MQ=30.74;MQ0=34;MQRankSum=5.438;QD=8.4;ReadPosRankSum=2.511;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=antisense;SNPEFF_GENE_NAME=AC113607.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427019 GT:AD:DP:GQ:PL 0/1:92,51:143:99:1230,0,559
2 905576 rs12470098 T G 85.35 MQFilter40;QDFilter2 AB=0.452;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.235;DB;DP=116;Dels=0.0;FS=4.731;HRun=1;HaplotypeScore=3.2304;MQ=30.7;MQ0=31;MQRankSum=-5.963;QD=0.74;ReadPosRankSum=3.656;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=antisense;SNPEFF_GENE_NAME=AC113607.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427019 GT:AD:DP:GQ:PL 0/1:52,63:116:99:115,0,1174
2 905581 rs113738897 C T 788.85 MQFilter40 AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.677;DB;DP=120;Dels=0.0;FS=7.803;HRun=1;HaplotypeScore=3.2304;MQ=28.36;MQ0=36;MQRankSum=4.492;QD=6.57;ReadPosRankSum=-2.234;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=antisense;SNPEFF_GENE_NAME=AC113607.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427019 GT:AD:DP:GQ:PL 0/1:70,50:120:99:819,0,325
2 905595 rs28716017 G C 124.45 MQFilter40;QDFilter2 AB=0.837;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.434;DB;DP=124;Dels=0.0;FS=1.624;HRun=0;HaplotypeScore=5.1368;MQ=23.45;MQ0=48;MQRankSum=1.52;QD=1.0;ReadPosRankSum=-0.801;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=antisense;SNPEFF_GENE_NAME=AC113607.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427019 GT:AD:DP:GQ:PL 0/1:103,20:124:99:154,0,890
2 905627 . G A 45.43 MQFilter40;QDFilter2 AB=0.868;AC=1;AF=0.50;AN=2;BaseQRankSum=0.856;DP=92;Dels=0.0;FS=2.754;HRun=0;HaplotypeScore=8.821;MQ=16.21;MQ0=44;MQRankSum=1.896;QD=0.49;ReadPosRankSum=1.346;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=antisense;SNPEFF_GENE_NAME=AC113607.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427019 GT:AD:DP:GQ:PL 0/1:79,12:92:75.42:75,0,533
2 905634 rs13400348 A C 184.55 MQFilter40 AB=0.453;AC=1;AF=0.50;AN=2;BaseQRankSum=2.021;DB;DP=86;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=9.6531;MQ=17.6;MQ0=43;MQRankSum=-2.376;QD=2.15;ReadPosRankSum=2.91;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=antisense;SNPEFF_GENE_NAME=AC113607.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427019 GT:AD:DP:GQ:PL 0/1:39,47:86:99:215,0,498
2 905651 rs113734895 T G 49.46 HaplotypeScoreFilter13;MQFilter40;QDFilter2 AB=0.855;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.114;DB;DP=110;Dels=0.0;FS=2.506;HRun=0;HaplotypeScore=24.6209;MQ=19.9;MQ0=44;MQRankSum=-0.411;QD=0.45;ReadPosRankSum=-2.651;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=antisense;SNPEFF_GENE_NAME=AC113607.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427019 GT:AD:DP:GQ:PL 0/1:94,16:110:79.46:79,0,1100
2 905652 . T TTCCTCCCGGCCTCCTCGCCTGCACTGCGTCTGGTGTTTCAGT 2459.79 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.295;DP=56;FS=0.0;HRun=0;HaplotypeScore=1537.9664;IndelType=I;MQ=20.37;MQ0=45;MQRankSum=1.454;QD=21.21;ReadPosRankSum=-0.299;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=antisense;SNPEFF_GENE_NAME=AC113607.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427019 GT:AD:DP:GQ:PL 1/1:76,21:56:30.44:2502,30,0
2 905687 rs13395348 C G 341.94 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=70;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=6.8692;MQ=18.87;MQ0=41;QD=4.88;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=antisense;SNPEFF_GENE_NAME=AC113607.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427019 GT:AD:DP:GQ:PL 1/1:0,70:70:33.04:375,33,0
2 905693 rs74861779 T G 371.81 MQFilter40 AB=0.346;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.892;DB;DP=78;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=22.46;MQ0=38;MQRankSum=-0.927;QD=4.77;ReadPosRankSum=1.837;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=antisense;SNPEFF_GENE_NAME=AC113607.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427019 GT:AD:DP:GQ:PL 0/1:27,51:78:99:402,0,147
2 905736 rs11891241 A T 2322.40 MQFilter40 AC=2;AF=1.00;AN=2;BaseQRankSum=0.78;DB;DP=143;Dels=0.0;FS=3.571;HRun=1;HaplotypeScore=2.3823;MQ=28.23;MQ0=43;MQRankSum=-0.209;QD=16.24;ReadPosRankSum=-0.818;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=antisense;SNPEFF_GENE_NAME=AC113607.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427019 GT:AD:DP:GQ:PL 1/1:1,142:143:99:2355,192,0
2 905763 rs71337696 G C 436.98 MQFilter40 AB=0.639;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.154;DB;DP=192;Dels=0.0;FS=1.909;HRun=0;HaplotypeScore=3.8909;MQ=31.97;MQ0=45;MQRankSum=-2.461;QD=2.28;ReadPosRankSum=4.349;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=antisense;SNPEFF_GENE_NAME=AC113607.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427019 GT:AD:DP:GQ:PL 0/1:122,69:192:99:467,0,2280
2 905777 rs71337697 T G 176.57 MQFilter40;QDFilter2 AB=0.788;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.069;DB;DP=222;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.6483;MQ=32.78;MQ0=45;MQRankSum=-3.673;QD=0.8;ReadPosRankSum=-1.145;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=antisense;SNPEFF_GENE_NAME=AC113607.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427019 GT:AD:DP:GQ:PL 0/1:175,47:222:99:207,0,3108
2 1079130 rs4971429 G A 740.59 PASS AB=0.422;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.505;DB;DP=45;Dels=0.0;FS=2.027;HRun=0;HaplotypeScore=0.7887;MQ=58.45;MQ0=0;MQRankSum=-0.057;QD=16.46;ReadPosRankSum=-0.448;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=SNTG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000308624 GT:AD:DP:GQ:PL 0/1:19,26:45:99:771,0,601
2 1079132 rs4971430 G A 763.12 PASS AB=0.422;AC=1;AF=0.50;AN=2;BaseQRankSum=4.07;DB;DP=45;Dels=0.0;FS=1.981;HRun=0;HaplotypeScore=0.7887;MQ=58.45;MQ0=0;MQRankSum=-1.182;QD=16.96;ReadPosRankSum=-0.656;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=SNTG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000308624 GT:AD:DP:GQ:PL 0/1:19,26:45:99:793,0,516
2 1079143 rs4971431 A G 1818.25 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.33;MQ0=0;QD=32.47;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=SNTG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000308624 GT:AD:DP:GQ:PL 1/1:0,56:56:99:1851,135,0
2 1079320 rs4971432 C T 2821.37 PASS AC=2;AF=1.00;AN=2;DB;DP=90;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.02;MQ0=0;QD=31.35;SNPEFF_AMINO_ACID_CHANGE=G63;SNPEFF_CODON_CHANGE=ggC/ggT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_1079204_1079341;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=SNTG2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000308624 GT:AD:DP:GQ:PL 1/1:0,90:90:99:2854,220,0
2 1079442 rs35463228 G A 533.10 PASS AB=0.459;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.173;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.625;QD=14.41;ReadPosRankSum=0.686;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=SNTG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000308624 GT:AD:DP:GQ:PL 0/1:17,20:37:99:563,0,559
2 1093965 rs11127460 G A 6152.55 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.713;DB;DP=185;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.3893;MQ=59.75;MQ0=0;MQRankSum=-0.729;QD=33.26;ReadPosRankSum=-0.767;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=SNTG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000308624 GT:AD:DP:GQ:PL 1/1:1,183:185:99:6153,472,0
2 1133188 rs71392567 G GCACA 821.71 PASS AC=2;AF=1.00;AN=2;DB;DP=13;FS=0.0;HRun=0;HaplotypeScore=39.5237;IndelType=I;MQ=57.23;MQ0=0;QD=63.21;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=SNTG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000308624 GT:AD:DP:GQ:PL 1/1:1,12:13:36.12:864,36,0
2 1241592 rs146197111 C T 170.90 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.48;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=SNTG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000308624 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:204,15,0
2 1250878 rs28622255 T C 51.16 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.58;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=SNTG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000494178 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
2 1319892 rs4927634 A T 415.21 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.75;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=SNTG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000308624 GT:AD:DP:GQ:PL 1/1:0,11:11:33.09:448,33,0
2 1320143 rs4927635 C T 2943.67 PASS AC=2;AF=1.00;AN=2;DB;DP=92;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.55;MQ0=0;QD=32.0;SNPEFF_AMINO_ACID_CHANGE=T368M;SNPEFF_CODON_CHANGE=aCg/aTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_1320037_1320147;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=SNTG2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000407292 GT:AD:DP:GQ:PL 1/1:0,92:92:99:2977,223,0
2 1320300 rs35466197 A G 143.31 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.03;MQ0=0;QD=20.47;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=SNTG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000308624 GT:AD:DP:GQ:PL 1/1:0,7:7:15.04:176,15,0
2 1418192 rs9678281 C G 92.84 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=1.246;DB;DP=11;Dels=0.0;FS=5.441;HRun=1;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=0.597;QD=8.44;ReadPosRankSum=-1.034;SNPEFF_AMINO_ACID_CHANGE=L4;SNPEFF_CODON_CHANGE=ctC/ctG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_1418180_1418274;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TPO;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000329066 GT:AD:DP:GQ:PL 0/1:7,4:11:99:123,0,175
2 1426787 rs2276701 G A 260.20 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=2.007;DB;DP=14;Dels=0.0;FS=3.68;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.965;QD=18.59;ReadPosRankSum=0.386;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TPO;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329066 GT:AD:DP:GQ:PL 0/1:6,8:14:99:290,0,177
2 1437163 rs1473936 A C 505.31 PASS AB=0.483;AC=1;AF=0.50;AN=2;BaseQRankSum=1.418;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.39;MQ0=0;MQRankSum=1.157;QD=17.42;ReadPosRankSum=-1.069;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TPO;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329066 GT:AD:DP:GQ:PL 0/1:14,15:29:99:535,0,473
2 1437410 rs4927578 C T 370.17 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=2.949;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.89;MQ0=0;MQRankSum=-0.533;QD=17.63;ReadPosRankSum=0.959;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TPO;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329066 GT:AD:DP:GQ:PL 0/1:9,12:21:99:400,0,215
2 1440299 rs28909386 A G 157 PASS AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=26.17;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TPO;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329066 GT:AD:DP:GQ:PL 0/1:1,5:6:20.52:187,0,21
2 1442476 rs1969248 T C 218.72 PASS AB=0.1;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.393;DB;DP=10;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=61.07;MQ0=0;MQRankSum=-1.393;QD=21.87;ReadPosRankSum=-1.044;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TPO;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329066 GT:AD:DP:GQ:PL 0/1:1,9:10:18.57:249,0,19
2 1442551 rs3036132 ATTTT A 683.77 PASS AB=0.575;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.901;DB;DP=42;FS=2.971;HRun=17;HaplotypeScore=341.718;IndelType=D;MQ=53.28;MQ0=0;MQRankSum=0.245;QD=16.28;ReadPosRankSum=0.823;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TPO;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329066 GT:AD:DP:GQ:PL 0/1:11,23:42:99:723,0,636
2 1457364 rs2070881 A G 310.94 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.87;MQ0=0;QD=28.27;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TPO;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329066 GT:AD:DP:GQ:PL 1/1:0,11:11:27.08:344,27,0
2 1459806 rs4927610 A G 323.77 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.43;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TPO;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000423320 GT:AD:DP:GQ:PL 1/1:0,11:11:30.09:357,30,0
2 1460004 rs4927611 G T 556.80 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.93;SNPEFF_AMINO_ACID_CHANGE=A186S;SNPEFF_CODON_CHANGE=Gct/Tct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_1459848_1460054;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TPO;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000422464 GT:AD:DP:GQ:PL 1/1:0,18:18:45.14:590,45,0
2 1460140 rs4927612 A G 117.60 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.4;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TPO;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000423320 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:150,12,0
2 1488668 rs6715129 T C 848.61 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.43;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TPO;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329066 GT:AD:DP:GQ:PL 1/1:0,27:27:69.22:882,69,0
2 1488831 rs28911469 A C 45.13 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.57;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TPO;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329066 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:76,6,0
2 1491497 rs6727192 T C 91.60 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.53;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TPO;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329066 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:124,9,0
2 1497442 rs9679267 A G 59.32 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.422;DB;DP=10;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.573;QD=5.93;ReadPosRankSum=1.683;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TPO;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329066 GT:AD:DP:GQ:PL 0/1:6,4:10:89.31:89,0,181
2 1497803 rs1126797 C T 583.56 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.311;DB;DP=40;Dels=0.0;FS=2.673;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.609;QD=14.59;ReadPosRankSum=0.446;SNPEFF_AMINO_ACID_CHANGE=D140;SNPEFF_CODON_CHANGE=gaC/gaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_1497574_1497811;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TPO;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000469607 GT:AD:DP:GQ:PL 0/1:20,20:40:99:614,0,587
2 1499728 rs2276704 C T 69.62 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=0.322;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.322;QD=8.7;ReadPosRankSum=-1.221;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TPO;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329066 GT:AD:DP:GQ:PL 0/1:5,3:8:99:100,0,185
2 1499899 rs732608 C T 379.63 PASS AB=0.595;AC=1;AF=0.50;AN=2;BaseQRankSum=1.67;DB;DP=42;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=-0.441;QD=9.04;ReadPosRankSum=-0.067;SNPEFF_AMINO_ACID_CHANGE=P189;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_1499761_1499969;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TPO;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000469607 GT:AD:DP:GQ:PL 0/1:25,17:42:99:410,0,619
2 1499927 rs732609 A C 373.46 PASS AB=0.568;AC=1;AF=0.50;AN=2;BaseQRankSum=1.862;DB;DP=37;Dels=0.0;FS=1.341;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.716;QD=10.09;ReadPosRankSum=-0.907;SNPEFF_AMINO_ACID_CHANGE=T199P;SNPEFF_CODON_CHANGE=Act/Cct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_1499761_1499969;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TPO;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000469607 GT:AD:DP:GQ:PL 0/1:21,16:37:99:403,0,597
2 1520676 rs1126799 T C 348.31 PASS AB=0.304;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.846;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.564;QD=15.14;ReadPosRankSum=0.423;SNPEFF_AMINO_ACID_CHANGE=V277A;SNPEFF_CODON_CHANGE=gTg/gCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_1520655_1520754;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TPO;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000469607 GT:AD:DP:GQ:PL 0/1:7,16:23:99:378,0,218
2 1544617 rs12615819 G A 1137.92 PASS AB=0.567;AC=1;AF=0.50;AN=2;BaseQRankSum=3.835;DB;DP=97;Dels=0.0;FS=0.841;HRun=0;HaplotypeScore=1.6624;MQ=59.76;MQ0=0;MQRankSum=0.845;QD=11.73;ReadPosRankSum=1.656;SNPEFF_AMINO_ACID_CHANGE=R842H;SNPEFF_CODON_CHANGE=cGt/cAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_1544366_1547483;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TPO;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000422464 GT:AD:DP:GQ:PL 0/1:55,42:97:99:1168,0,1463
2 1546327 rs1042589 C G 1045.58 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.481;DB;DP=105;Dels=0.0;FS=3.743;HRun=1;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=0.186;QD=9.96;ReadPosRankSum=0.33;SNPEFF_AMINO_ACID_CHANGE=P918R;SNPEFF_CODON_CHANGE=cCg/cGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_1546193_1546498;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TPO;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000337415 GT:AD:DP:GQ:PL 0/1:63,42:105:99:1076,0,1846
2 1546361 rs28915689 G T 1407.35 PASS AB=0.413;AC=1;AF=0.50;AN=2;BaseQRankSum=0.135;DB;DP=92;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=-1.058;QD=15.3;ReadPosRankSum=-0.012;SNPEFF_AMINO_ACID_CHANGE=G929;SNPEFF_CODON_CHANGE=ggG/ggT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_1546193_1546498;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TPO;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000337415 GT:AD:DP:GQ:PL 0/1:38,54:92:99:1437,0,1148
2 1642369 rs6732413 A C 40.31 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.16;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PXDN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477093 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:72,6,0
2 1642453 rs6729173 T C 311.57 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=55.21;MQ0=0;QD=31.16;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PXDN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477093 GT:AD:DP:GQ:PL 1/1:0,10:10:27.09:345,27,0
2 1642537 rs6729142 T C 1099.62 SnpCluster AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=50.96;MQ0=0;QD=24.99;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PXDN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477093 GT:AD:DP:GQ:PL 1/1:0,43:44:99:1133,117,0
2 1642539 rs6742040 C T 1185.89 SnpCluster AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=51.18;MQ0=0;QD=26.35;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PXDN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477093 GT:AD:DP:GQ:PL 1/1:0,45:45:99:1219,126,0
2 1642545 rs6742039 C G 1549.43 SnpCluster AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=51.59;MQ0=0;QD=30.99;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PXDN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477093 GT:AD:DP:GQ:PL 1/1:0,50:50:99:1582,135,0
2 1647171 rs6730800 T C 2007.70 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9332;MQ=58.2;MQ0=0;QD=30.89;SNPEFF_AMINO_ACID_CHANGE=V1307;SNPEFF_CODON_CHANGE=gtA/gtG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_1647140_1647348;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PXDN;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000252804 GT:AD:DP:GQ:PL 1/1:0,65:65:99:2041,159,0
2 1651842 rs11685976 C A 1943.36 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.54;MQ0=0;QD=38.87;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PXDN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465809 GT:AD:DP:GQ:PL 1/1:0,50:50:99:1976,150,0
2 1652660 rs3811613 G A 333.44 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.34;SNPEFF_AMINO_ACID_CHANGE=N964;SNPEFF_CODON_CHANGE=aaC/aaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_1651944_1653447;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PXDN;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000252804 GT:AD:DP:GQ:PL 1/1:0,10:10:27.09:366,27,0
2 1652822 rs1863135 T G 847.93 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.17;MQ0=0;QD=30.28;SNPEFF_AMINO_ACID_CHANGE=I910;SNPEFF_CODON_CHANGE=atA/atC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_1651944_1653447;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PXDN;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000252804 GT:AD:DP:GQ:PL 1/1:0,28:28:69.20:881,69,0
2 1664508 rs2241456 G C 54.58 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.741;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=4.96;ReadPosRankSum=1.866;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PXDN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467191 GT:AD:DP:GQ:PL 0/1:7,4:11:84.57:85,0,212
2 1664654 rs17841813 A G 2334.17 PASS AC=2;AF=1.00;AN=2;DB;DP=77;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.31;SNPEFF_AMINO_ACID_CHANGE=N612;SNPEFF_CODON_CHANGE=aaT/aaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_1664653_1664809;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PXDN;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000252804 GT:AD:DP:GQ:PL 1/1:0,77:77:99:2367,187,0
2 1667267 rs2241455 C G 646.14 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.917;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.3;MQ0=0;MQRankSum=-0.019;QD=19.58;ReadPosRankSum=0.094;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PXDN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467191 GT:AD:DP:GQ:PL 0/1:12,21:33:99:676,0,374
2 1667310 rs12475392 G A 1024.04 PASS AB=0.493;AC=1;AF=0.50;AN=2;BaseQRankSum=5.248;DB;DP=67;Dels=0.0;FS=3.191;HRun=0;HaplotypeScore=0.9832;MQ=58.96;MQ0=0;MQRankSum=-0.633;QD=15.28;ReadPosRankSum=0.37;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PXDN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467191 GT:AD:DP:GQ:PL 0/1:33,34:67:99:1054,0,886
2 1677266 rs918953 A C 482.06 PASS AB=0.379;AC=1;AF=0.50;AN=2;BaseQRankSum=0.8;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=1.176;QD=16.62;ReadPosRankSum=-0.282;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PXDN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000425171 GT:AD:DP:GQ:PL 0/1:11,18:29:99:512,0,356
2 1683879 . T G 46.48 PASS AB=0.727;AC=1;AF=0.50;AN=2;BaseQRankSum=1.106;DP=11;Dels=0.0;FS=5.643;HRun=1;HaplotypeScore=0.0;MQ=49.69;MQ0=0;MQRankSum=-1.106;QD=4.23;ReadPosRankSum=-1.377;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PXDN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485177 GT:AD:DP:GQ:PL 0/1:8,3:11:76.47:76,0,257
2 1683889 . A G 58.13 PASS AB=0.688;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.566;DP=16;Dels=0.0;FS=5.051;HRun=1;HaplotypeScore=0.0;MQ=51.48;MQ0=0;MQRankSum=-0.113;QD=3.63;ReadPosRankSum=-1.473;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PXDN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485177 GT:AD:DP:GQ:PL 0/1:11,5:16:88.12:88,0,371
2 1683923 rs72763569 G T 247.42 PASS AB=0.609;AC=1;AF=0.50;AN=2;BaseQRankSum=0.868;DB;DP=23;Dels=0.0;FS=3.882;HRun=1;HaplotypeScore=4.9244;MQ=54.22;MQ0=0;MQRankSum=-0.401;QD=10.76;ReadPosRankSum=0.668;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PXDN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485177 GT:AD:DP:GQ:PL 0/1:14,9:23:99:277,0,429
2 1805748 rs2288180 C T 44.02 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=49.84;MQ0=0;QD=22.01;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYT1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295067 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:75,6,0
2 1813057 rs12988270 G T 446.85 PASS AB=0.483;AC=1;AF=0.50;AN=2;BaseQRankSum=0.284;DB;DP=29;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.196;QD=15.41;ReadPosRankSum=-1.069;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYT1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295067 GT:AD:DP:GQ:PL 0/1:14,15:29:99:477,0,482
2 1855567 rs4553849 C A 414.72 PASS AB=0.581;AC=1;AF=0.50;AN=2;BaseQRankSum=1.172;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.795;QD=13.38;ReadPosRankSum=0.209;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYT1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295067 GT:AD:DP:GQ:PL 0/1:18,13:31:99:445,0,590
2 1855686 rs4286314 C A 167.62 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.52;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYT1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295067 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:200,15,0
2 1855717 rs7421372 A G 48.57 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.28;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYT1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295067 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:80,6,0
2 1890070 rs4241294 C T 46.65 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYT1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295067 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:78,6,0
2 1926437 rs1529667 G T 2087.39 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.341;DB;DP=62;Dels=0.0;FS=4.122;HRun=0;HaplotypeScore=1.6316;MQ=59.02;MQ0=0;MQRankSum=1.006;QD=33.67;ReadPosRankSum=-0.782;SNPEFF_AMINO_ACID_CHANGE=P316;SNPEFF_CODON_CHANGE=ccC/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_1926064_1927035;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYT1L;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000295067 GT:AD:DP:GQ:PL 1/1:1,61:62:99:2120,131,0
2 3193040 rs17682 G A 51.75 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.87;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TSSC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000435721 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:83,6,0
2 3196040 rs2242084 A G 147.03 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.41;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TSSC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000435721 GT:AD:DP:GQ:PL 1/1:0,5:5:15.04:180,15,0
2 3212704 rs7595702 C A 400.50 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=54.44;MQ0=0;QD=30.81;SNPEFF_AMINO_ACID_CHANGE=G181*;SNPEFF_CODON_CHANGE=Gga/Tga;SNPEFF_EFFECT=STOP_GAINED;SNPEFF_EXON_ID=exon_2_3211575_3212728;SNPEFF_FUNCTIONAL_CLASS=NONSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TSSC1;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000443925 GT:AD:DP:GQ:PL 1/1:0,13:13:33.10:433,33,0
2 3212817 rs12467123 C T 241.92 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.73;MQ0=0;QD=34.56;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TSSC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000382125 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:275,21,0
2 3217777 rs11127386 A C 215.96 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=50.65;MQ0=0;QD=27.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TSSC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000406835 GT:AD:DP:GQ:PL 1/1:0,8:8:21.06:249,21,0
2 3217794 rs10865535 T C 417.49 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=54.85;MQ0=0;QD=29.82;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TSSC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000406835 GT:AD:DP:GQ:PL 1/1:0,14:14:36.11:450,36,0
2 3217908 rs11682452 G C 1824.70 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.49;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TSSC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000406835 GT:AD:DP:GQ:PL 1/1:0,50:50:99:1858,135,0
2 3261195 rs148305782 G C 409.39 PASS AB=0.485;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.443;DB;DP=33;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.3;MQ0=0;MQRankSum=-0.059;QD=12.41;ReadPosRankSum=-0.771;SNPEFF_AMINO_ACID_CHANGE=A124;SNPEFF_CODON_CHANGE=gcC/gcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_3261070_3261226;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TSSC1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000398659 GT:AD:DP:GQ:PL 0/1:16,17:33:99:439,0,423
2 3322470 rs62121537 G T 93.19 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TSSC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000382125 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:125,9,0
2 3322555 rs62121538 T C 303.93 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.815;DB;DP=30;Dels=0.0;FS=13.453;HRun=1;HaplotypeScore=1.4725;MQ=59.23;MQ0=0;MQRankSum=0.233;QD=10.13;ReadPosRankSum=-0.148;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TSSC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000382125 GT:AD:DP:GQ:PL 0/1:18,12:30:99:334,0,658
2 3322797 rs12618407 C A 999.21 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.46;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TSSC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000382125 GT:AD:DP:GQ:PL 1/1:0,29:29:78.23:1032,78,0
2 3322905 rs34135516 A G 50.52 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TSSC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000382125 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
2 3322907 rs9309705 A G 44.20 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TSSC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000382125 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:75,6,0
2 3342009 rs3811617 T C 415.11 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.93;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TSSC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000382125 GT:AD:DP:GQ:PL 1/1:0,13:13:36.11:448,36,0
2 3358458 rs146001084 ATTATGAAGTTAGAT A 1549.58 PASS AC=2;AF=1.00;AN=2;DB;DP=18;FS=0.0;HRun=0;HaplotypeScore=239.1952;IndelType=D;MQ=37.15;MQ0=0;QD=86.09;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TSSC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000382125 GT:AD:DP:GQ:PL 1/1:4,14:18:39.13:1592,39,0
2 3392075 rs10865541 T C 326.64 PASS AB=0.458;AC=1;AF=0.50;AN=2;BaseQRankSum=0.525;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=55.0;MQ0=0;MQRankSum=-0.197;QD=13.61;ReadPosRankSum=0.525;SNPEFF_AMINO_ACID_CHANGE=F210;SNPEFF_CODON_CHANGE=ttT/ttC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_3391470_3392441;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC15;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000304601 GT:AD:DP:GQ:PL 0/1:11,13:24:99:357,0,276
2 3405851 rs62120499 A G 396.66 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.06;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304601 GT:AD:DP:GQ:PL 1/1:0,11:11:33.11:430,33,0
2 3425514 rs7558487 G C 35.07 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9159;MQ=51.77;MQ0=0;MQRankSum=0.736;QD=11.69;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304601 GT:AD:DP:GQ:PL 0/1:1,2:3:26.23:65,0,26
2 3428508 rs10166880 T G 755.49 PASS AB=0.48;AC=1;AF=0.50;AN=2;BaseQRankSum=0.165;DB;DP=50;Dels=0.0;FS=10.075;HRun=0;HaplotypeScore=0.0;MQ=59.54;MQ0=0;MQRankSum=0.165;QD=15.11;ReadPosRankSum=0.01;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304601 GT:AD:DP:GQ:PL 0/1:24,26:50:99:785,0,723
2 3523324 rs10179340 A G 56.17 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=14.04;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADI1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000382093 GT:AD:DP:GQ:PL 1/1:0,4:4:6.02:87,6,0
2 3599700 rs7563960 G T 414.96 PASS AB=0.481;AC=1;AF=0.50;AN=2;BaseQRankSum=0.308;DB;DP=27;Dels=0.0;FS=4.925;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.513;QD=15.37;ReadPosRankSum=1.077;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=RNASEH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315212 GT:AD:DP:GQ:PL 0/1:13,14:27:99:445,0,379
2 3623540 rs3087873 A G 174.64 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.299;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.276;QD=12.47;ReadPosRankSum=-1.027;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RPS7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304921 GT:AD:DP:GQ:PL 0/1:7,7:14:99:205,0,254
2 3625175 rs72767176 T C 253.96 PASS AB=0.385;AC=1;AF=0.50;AN=2;BaseQRankSum=1.991;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.212;QD=19.54;ReadPosRankSum=1.855;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RPS7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479123 GT:AD:DP:GQ:PL 0/1:5,8:13:99:284,0,169
2 3625179 rs72767177 C T 239.30 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.825;DB;DP=12;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.289;QD=19.94;ReadPosRankSum=1.599;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RPS7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479123 GT:AD:DP:GQ:PL 0/1:4,8:12:99:269,0,130
2 3627648 rs7576238 G C 1012.83 PASS AB=0.554;AC=1;AF=0.50;AN=2;BaseQRankSum=2.533;DB;DP=83;Dels=0.0;FS=7.391;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.967;QD=12.2;ReadPosRankSum=-0.6;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RPS7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479123 GT:AD:DP:GQ:PL 0/1:46,37:83:99:1043,0,1389
2 3673648 rs10170348 G A 1900.38 PASS AB=0.459;AC=1;AF=0.50;AN=2;BaseQRankSum=1.633;DB;DP=122;Dels=0.0;FS=1.439;HRun=2;HaplotypeScore=0.0;MQ=59.81;MQ0=0;MQRankSum=0.553;QD=15.58;ReadPosRankSum=-0.406;SNPEFF_AMINO_ACID_CHANGE=K53;SNPEFF_CODON_CHANGE=aaG/aaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_3673604_3673682;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COLEC11;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000236693 GT:AD:DP:GQ:PL 0/1:56,66:122:99:1930,0,1697
2 3685046 rs3811528 T C 133.28 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.66;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COLEC11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236693 GT:AD:DP:GQ:PL 1/1:0,5:5:15.01:166,15,0
2 3685074 rs3811527 A G 358.19 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.85;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COLEC11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236693 GT:AD:DP:GQ:PL 1/1:0,12:12:36.09:391,36,0
2 3718692 rs13409104 C T 209.95 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=1.977;DB;DP=12;Dels=0.0;FS=6.532;HRun=0;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=-0.38;QD=17.5;ReadPosRankSum=0.244;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_2_3718686_3718780;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALLC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000252505 GT:AD:DP:GQ:PL 0/1:5,7:12:99:240,0,144
2 3721632 rs13390724 G A 100.11 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.278;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.278;QD=9.1;ReadPosRankSum=-0.278;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALLC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000252505 GT:AD:DP:GQ:PL 0/1:7,4:11:99:130,0,253
2 3721729 rs12105179 A G 371.21 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=2.989;DB;DP=40;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.5807;MQ=60.0;MQ0=0;MQRankSum=-0.419;QD=9.28;ReadPosRankSum=0.168;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALLC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000252505 GT:AD:DP:GQ:PL 0/1:25,15:40:99:401,0,788
2 3725964 rs72769388 C T 178.84 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=0.581;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.33;MQ0=0;MQRankSum=-0.71;QD=12.77;ReadPosRankSum=-0.323;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALLC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000252505 GT:AD:DP:GQ:PL 0/1:8,6:14:99:209,0,281
2 3726163 rs2043080 T C 923.41 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.78;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALLC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000252505 GT:AD:DP:GQ:PL 1/1:0,29:30:72.22:956,72,0
2 3729254 rs13426642 C T 404.93 PASS AB=0.61;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.592;DB;DP=41;Dels=0.0;FS=5.041;HRun=0;HaplotypeScore=1.81;MQ=58.98;MQ0=0;MQRankSum=0.678;QD=9.88;ReadPosRankSum=0.852;SNPEFF_AMINO_ACID_CHANGE=T110I;SNPEFF_CODON_CHANGE=aCc/aTc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_3729224_3729303;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALLC;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000252505 GT:AD:DP:GQ:PL 0/1:25,16:41:99:435,0,728
2 3730340 rs6725953 C T 467.14 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=49.52;MQ0=1;QD=33.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALLC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000252505 GT:AD:DP:GQ:PL 1/1:0,14:14:39.11:500,39,0
2 3730358 rs6714665 G A 81.95 PASS AB=0.706;AC=1;AF=0.50;AN=2;BaseQRankSum=2.85;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.5616;MQ=51.52;MQ0=1;MQRankSum=0.667;QD=4.82;ReadPosRankSum=-0.424;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALLC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000252505 GT:AD:DP:GQ:PL 0/1:12,5:17:99:112,0,330
2 3730362 rs6714670 G A 71.74 PASS AB=0.706;AC=1;AF=0.50;AN=2;BaseQRankSum=1.395;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.5616;MQ=51.52;MQ0=1;MQRankSum=0.303;QD=4.22;ReadPosRankSum=0.061;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALLC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000252505 GT:AD:DP:GQ:PL 0/1:12,5:17:99:102,0,358
2 3730877 rs6732295 A T 118.75 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.8;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9332;MQ=60.0;MQ0=0;MQRankSum=0.933;QD=8.48;ReadPosRankSum=1.2;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALLC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000252505 GT:AD:DP:GQ:PL 0/1:9,5:14:99:149,0,329
2 3744728 rs2303902 A G 82.13 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=20.53;ReadPosRankSum=-0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALLC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000252505 GT:AD:DP:GQ:PL 0/1:1,3:4:30.97:112,0,31
2 3745211 rs112134730 G A 369.29 HaplotypeScoreFilter13 AB=0.517;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.198;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=27.2616;MQ=58.78;MQ0=0;MQRankSum=-0.783;QD=12.73;ReadPosRankSum=-1.198;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALLC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000252505 GT:AD:DP:GQ:PL 0/1:15,14:29:99:399,0,399
2 3749084 rs11689171 T C 519.39 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.057;DB;DP=32;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.24;MQ0=0;MQRankSum=-1.187;QD=16.23;ReadPosRankSum=2.242;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALLC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000252505 GT:AD:DP:GQ:PL 0/1:16,16:32:99:549,0,528
2 3749151 rs66473381 GGAA G 2442.08 PASS AC=2;AF=1.00;AN=2;DB;DP=60;FS=0.0;HRun=0;HaplotypeScore=282.6572;IndelType=D;MQ=57.87;MQ0=0;QD=40.7;SNPEFF_AMINO_ACID_CHANGE=E301-;SNPEFF_CODON_CHANGE=gaa/-;SNPEFF_EFFECT=CODON_DELETION;SNPEFF_EXON_ID=exon_2_3749102_3749226;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALLC;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000252505 GT:AD:DP:GQ:PL 1/1:7,53:60:99:2484,163,0
2 3749267 rs11681270 G A 609.18 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.272;DB;DP=64;Dels=0.0;FS=2.379;HRun=0;HaplotypeScore=0.0;MQ=56.29;MQ0=0;MQRankSum=-0.828;QD=9.52;ReadPosRankSum=-0.559;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALLC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000252505 GT:AD:DP:GQ:PL 0/1:40,24:64:99:639,0,1180
2 3756073 rs17505481 G A 186.81 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.69;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DCDC2C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000423741 GT:AD:DP:GQ:PL 1/1:0,7:7:18.05:220,18,0
2 3774436 rs357940 C T 89.01 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.25;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DCDC2C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000423741 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:121,9,0
2 3774448 rs12711970 T C 188.24 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DCDC2C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000423741 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:221,18,0
2 3774519 rs357941 T C 456.80 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DCDC2C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000423741 GT:AD:DP:GQ:PL 1/1:0,12:12:36.12:490,36,0
2 3774788 rs79382070 C T 238.93 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.47;MQ0=0;QD=23.89;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DCDC2C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000423741 GT:AD:DP:GQ:PL 1/1:0,10:10:21.07:272,21,0
2 3800383 rs357969 C T 945.59 PASS AB=0.607;AC=1;AF=0.50;AN=2;BaseQRankSum=2.961;DB;DP=89;Dels=0.0;FS=2.916;HRun=0;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=0.634;QD=10.62;ReadPosRankSum=0.987;SNPEFF_AMINO_ACID_CHANGE=G155;SNPEFF_CODON_CHANGE=ggC/ggT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_3800353_3800490;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DCDC2C;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000423741 GT:AD:DP:GQ:PL 0/1:54,35:89:99:976,0,1427
2 3800496 rs357968 C T 438.53 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=0.06;DB;DP=40;Dels=0.0;FS=3.655;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.195;QD=10.96;ReadPosRankSum=0.567;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DCDC2C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000399143 GT:AD:DP:GQ:PL 0/1:25,15:40:99:469,0,666
2 3815250 rs10180257 A G 391.72 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.564;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.769;QD=15.07;ReadPosRankSum=0.256;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DCDC2C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000399143 GT:AD:DP:GQ:PL 0/1:13,13:26:99:422,0,451
2 3815477 rs17017989 T A 933.49 PASS AB=0.575;AC=1;AF=0.50;AN=2;BaseQRankSum=3.183;DB;DP=80;Dels=0.0;FS=3.424;HRun=0;HaplotypeScore=3.4292;MQ=59.42;MQ0=0;MQRankSum=1.104;QD=11.67;ReadPosRankSum=0.381;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DCDC2C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000399143 GT:AD:DP:GQ:PL 0/1:46,34:80:99:963,0,1418
2 3816733 rs77165837 C T 32.36 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=10.79;ReadPosRankSum=0.736;SNPEFF_EFFECT=SPLICE_SITE_DONOR;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DCDC2C;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000537457 GT:AD:DP:GQ:PL 0/1:1,2:3:33.20:62,0,33
2 3826324 rs13005405 C T 378.03 PASS AB=0.368;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.803;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9578;MQ=60.0;MQ0=0;MQRankSum=-0.465;QD=19.9;ReadPosRankSum=1.564;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DCDC2C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000423741 GT:AD:DP:GQ:PL 0/1:7,12:19:99:408,0,213
2 3826387 rs13021385 T C 384.06 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=0.437;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=58.67;MQ0=0;MQRankSum=0.997;QD=10.97;ReadPosRankSum=-0.822;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DCDC2C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000423741 GT:AD:DP:GQ:PL 0/1:20,15:35:99:414,0,556
2 3826597 rs13035992 G A 96.05 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.754;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.55;QD=13.72;ReadPosRankSum=1.3;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DCDC2C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000423741 GT:AD:DP:GQ:PL 0/1:3,4:7:99:126,0,103
2 6112516 rs11691189 C T 48.33 PASS AB=0.8;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.65;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.65;QD=3.22;ReadPosRankSum=0.217;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AC073479.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000391666 GT:AD:DP:GQ:PL 0/1:12,3:15:78.32:78,0,450
2 6872399 rs112317122 G GA 966.94 PASS AC=2;AF=1.00;AN=2;DB;DP=26;FS=0.0;HRun=3;HaplotypeScore=54.2821;IndelType=I;MQ=60.0;MQ0=0;QD=37.19;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AC079923.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000382045 GT:AD:DP:GQ:PL 1/1:2,24:26:72.24:1009,72,0
2 6991551 rs79692126 G A 294.04 PASS AB=0.421;AC=1;AF=0.50;AN=2;BaseQRankSum=3.065;DB;DP=19;Dels=0.0;FS=2.304;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.4;QD=15.48;ReadPosRankSum=-0.133;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CMPK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256722 GT:AD:DP:GQ:PL 0/1:8,11:19:99:324,0,200
2 7001233 rs3085147 ACG A 548.40 PASS AC=2;AF=1.00;AN=2;DB;DP=16;FS=0.0;HRun=0;HaplotypeScore=200.7652;IndelType=D;MQ=36.86;MQ0=0;QD=34.28;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CMPK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470479 GT:AD:DP:GQ:PL 1/1:5,11:16:48.15:590,48,0
2 7001249 . ACACACACACC A 977.24 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.1;DP=18;FS=0.0;HRun=0;HaplotypeScore=259.2714;IndelType=D;MQ=38.13;MQ0=0;MQRankSum=-2.282;QD=54.29;ReadPosRankSum=1.917;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CMPK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470479 GT:AD:DP:GQ:PL 1/1:11,7:18:33.97:1019,34,0
2 7003879 rs2712039 G A 131.37 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.84;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CMPK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256722 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:164,12,0
2 7003902 rs2712040 G A 50.63 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CMPK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256722 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
2 7005069 rs2595172 C T 120.25 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.06;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CMPK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256722 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:153,12,0
2 7005369 rs11678810 A G 92.43 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.11;SNPEFF_AMINO_ACID_CHANGE=C153;SNPEFF_CODON_CHANGE=tgT/tgC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_7005153_7005827;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CMPK2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000256722 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:124,9,0
2 7017903 rs10182815 A G 396.43 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.49;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RSAD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474872 GT:AD:DP:GQ:PL 1/1:0,13:13:33.08:429,33,0
2 7027323 rs9917321 T A 469.97 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.5;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RSAD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000442639 GT:AD:DP:GQ:PL 1/1:0,20:20:39.13:503,39,0
2 7137067 rs364891 A G 1022.48 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.08;SNPEFF_AMINO_ACID_CHANGE=T4A;SNPEFF_CODON_CHANGE=Aca/Gca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_7137047_7137192;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RNF144A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000320892 GT:AD:DP:GQ:PL 1/1:0,30:30:78.26:1055,78,0
2 7137317 rs378548 G A 131.15 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.825;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.825;QD=11.92;ReadPosRankSum=-0.717;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RNF144A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000320892 GT:AD:DP:GQ:PL 0/1:5,6:11:99:161,0,180
2 7154632 rs309325 T C 2584.63 PASS AC=2;AF=1.00;AN=2;DB;DP=80;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.77;MQ0=0;QD=32.31;SNPEFF_AMINO_ACID_CHANGE=T61;SNPEFF_CODON_CHANGE=acT/acC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_7154585_7154689;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RNF144A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000320892 GT:AD:DP:GQ:PL 1/1:0,80:80:99:2618,208,0
2 7160490 rs309306 C T 136.38 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.73;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RNF144A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000320892 GT:AD:DP:GQ:PL 1/1:0,6:6:15.04:169,15,0
2 7164483 rs6709878 C T 567.52 PASS AB=0.568;AC=1;AF=0.50;AN=2;BaseQRankSum=0.735;DB;DP=44;Dels=0.0;FS=1.226;HRun=0;HaplotypeScore=0.0;MQ=59.05;MQ0=0;MQRankSum=-0.474;QD=12.9;ReadPosRankSum=-0.711;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RNF144A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471060 GT:AD:DP:GQ:PL 0/1:25,19:44:99:598,0,672
2 7164578 rs376219 A G 710.04 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.252;DB;DP=50;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.63;QD=14.2;ReadPosRankSum=0.466;SNPEFF_AMINO_ACID_CHANGE=E196;SNPEFF_CODON_CHANGE=gaA/gaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_7164500_7164647;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RNF144A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000320892 GT:AD:DP:GQ:PL 0/1:25,25:50:99:740,0,861
2 7164746 rs392709 C G 350.01 PASS AB=0.368;AC=1;AF=0.50;AN=2;BaseQRankSum=1.564;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.549;QD=18.42;ReadPosRankSum=-0.634;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RNF144A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471060 GT:AD:DP:GQ:PL 0/1:7,12:19:99:380,0,177
2 7164812 rs392409 C G 69.40 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=0.322;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.517;QD=8.67;ReadPosRankSum=0.956;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RNF144A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471060 GT:AD:DP:GQ:PL 0/1:5,3:8:99:99,0,181
2 7170388 rs72180357 CTGTGTG C 275.54 PASS AC=2;AF=1.00;AN=2;DB;DP=21;FS=0.0;HRun=0;HaplotypeScore=159.1458;IndelType=D;MQ=52.29;MQ0=0;QD=13.12;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RNF144A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000320892 GT:AD:DP:GQ:PL 1/1:16,5:21:20.09:317,20,0
2 7170517 rs34349013 G T 81.66 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.727;QD=20.42;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RNF144A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000320892 GT:AD:DP:GQ:PL 0/1:1,3:4:29.72:112,0,30
2 7540646 rs5829105 C CA 261.70 PASS AB=0.652;AC=1;AF=0.50;AN=2;BaseQRankSum=0.772;DB;DP=15;FS=0.0;HRun=2;HaplotypeScore=54.7911;IndelType=I;MQ=60.72;MQ0=0;MQRankSum=1.096;QD=17.45;ReadPosRankSum=-0.993;SNPEFF_EFFECT=INTERGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 0/1:7,8:15:99:301,0,215
2 7540695 rs2163257 C G 196.04 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.036;DB;DP=10;Dels=0.0;FS=6.99;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.866;QD=19.6;ReadPosRankSum=1.447;SNPEFF_EFFECT=INTERGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 0/1:4,6:10:99:226,0,138
2 8743476 rs12692363 G C 2134.78 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=59.62;MQ0=0;QD=35.58;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=AC011747.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000425442 GT:AD:DP:GQ:PL 1/1:0,60:60:99:2168,160,0
2 8822912 rs34272236 A AC 397.86 PASS AB=0.746;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.911;DB;DP=50;FS=9.645;HRun=0;HaplotypeScore=361.5687;IndelType=I;MQ=55.49;MQ0=0;MQRankSum=3.295;QD=7.96;ReadPosRankSum=-2.153;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ID2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234091 GT:AD:DP:GQ:PL 0/1:33,17:50:99:437,0,271
2 8870814 rs6431959 A G 794.27 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.55;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KIDINS220;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471685 GT:AD:DP:GQ:PL 1/1:0,26:26:66.21:827,66,0
2 8876797 rs2067910 A G 214.54 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.76;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KIDINS220;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256707 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:247,18,0
2 8887551 rs4669335 C A 133.21 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KIDINS220;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256707 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:166,12,0
2 8887910 rs1978841 A T 290.06 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KIDINS220;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256707 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:323,24,0
2 8898089 rs4669336 A T 51.75 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KIDINS220;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256707 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:83,6,0
2 8910736 rs57679000 GT G 45.16 QDFilter2 AB=0.711;AC=1;AF=0.50;AN=2;BaseQRankSum=1.89;DB;DP=27;FS=0.0;HRun=16;HaplotypeScore=174.5437;IndelType=D;MQ=53.65;MQ0=0;MQRankSum=-0.347;QD=1.67;ReadPosRankSum=-1.967;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KIDINS220;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256707 GT:AD:DP:GQ:PL 0/1:14,11:27:84.19:84,0,224
2 8910987 rs12476359 A T 746.27 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=58.27;MQ0=0;QD=27.64;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KIDINS220;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256707 GT:AD:DP:GQ:PL 1/1:0,26:27:69.19:779,69,0
2 8911010 rs17630893 T C 660.55 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.71;MQ0=0;QD=36.7;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KIDINS220;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256707 GT:AD:DP:GQ:PL 1/1:0,18:18:51.17:694,51,0
2 8916847 rs4669338 A T 1229.96 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.27;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KIDINS220;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256707 GT:AD:DP:GQ:PL 1/1:0,33:33:96.27:1263,96,0
2 8943291 rs2356658 G A 463.67 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.12;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KIDINS220;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256707 GT:AD:DP:GQ:PL 1/1:0,14:14:39.10:497,39,0
2 8998624 rs10929559 A G 40.31 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.16;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MBOAT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473432 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:72,6,0
2 9008502 rs114860060 T C 264.45 PASS AB=0.577;AC=1;AF=0.50;AN=2;BaseQRankSum=1.082;DB;DP=26;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.804;QD=10.17;ReadPosRankSum=-0.693;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MBOAT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474341 GT:AD:DP:GQ:PL 0/1:15,11:26:99:294,0,534
2 9017034 rs998967 T C 186.88 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=1.635;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=58.05;MQ0=0;MQRankSum=0.689;QD=15.57;ReadPosRankSum=0.244;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MBOAT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462696 GT:AD:DP:GQ:PL 0/1:5,7:12:99:217,0,162
2 9419411 rs10193043 G A 528.61 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.04;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASAP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281419 GT:AD:DP:GQ:PL 1/1:0,16:16:42.14:562,42,0
2 9419415 rs10170149 C T 599.10 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.71;MQ0=0;QD=33.28;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASAP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281419 GT:AD:DP:GQ:PL 1/1:0,18:18:48.13:632,48,0
2 9460234 rs17522163 G A 42.68 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.34;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASAP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281419 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:74,6,0
2 9463454 rs12475160 C T 696.93 PASS AB=0.457;AC=1;AF=0.50;AN=2;BaseQRankSum=4.726;DB;DP=46;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.012;QD=15.15;ReadPosRankSum=1.308;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASAP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281419 GT:AD:DP:GQ:PL 0/1:21,25:46:99:727,0,552
2 9463635 rs13384605 T C 37.93 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.026;QD=9.48;ReadPosRankSum=1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASAP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281419 GT:AD:DP:GQ:PL 0/1:2,2:4:67.59:68,0,68
2 9475337 rs4392227 A G 359.58 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.328;DB;DP=22;Dels=0.0;FS=3.222;HRun=1;HaplotypeScore=0.0;MQ=58.95;MQ0=0;MQRankSum=-1.116;QD=16.34;ReadPosRankSum=0.328;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASAP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281419 GT:AD:DP:GQ:PL 0/1:11,11:22:99:390,0,385
2 9484542 rs6724103 C T 88.62 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=53.95;MQ0=0;QD=22.16;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASAP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281419 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:121,9,0
2 9484561 rs3841085 TAAAA T 346.36 PASS AC=2;AF=1.00;AN=2;DB;DP=9;FS=0.0;HRun=10;HaplotypeScore=73.1943;IndelType=D;MQ=47.03;MQ0=0;QD=38.48;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASAP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281419 GT:AD:DP:GQ:PL 1/1:1,8:9:24.08:388,24,0
2 9491017 rs4669385 C T 1098.68 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.32;MQ0=0;QD=32.31;SNPEFF_AMINO_ACID_CHANGE=L368;SNPEFF_CODON_CHANGE=ctC/ctT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_9490937_9491024;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASAP2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000281419 GT:AD:DP:GQ:PL 1/1:0,34:34:84.27:1132,84,0
2 9496291 rs2709591 T C 822.75 PASS AB=0.482;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.87;DB;DP=56;Dels=0.0;FS=2.596;HRun=0;HaplotypeScore=0.734;MQ=59.59;MQ0=0;MQRankSum=1.017;QD=14.69;ReadPosRankSum=-0.016;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASAP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281419 GT:AD:DP:GQ:PL 0/1:27,29:56:99:853,0,907
2 9528536 rs2715860 G C 433.94 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.889;DB;DP=30;Dels=0.0;FS=1.494;HRun=0;HaplotypeScore=0.0;MQ=58.6;MQ0=0;MQRankSum=-1.309;QD=14.46;ReadPosRankSum=-1.185;SNPEFF_AMINO_ACID_CHANGE=E748D;SNPEFF_CODON_CHANGE=gaG/gaC;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_9528423_9528675;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASAP2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000281419 GT:AD:DP:GQ:PL 0/1:14,16:30:99:464,0,465
2 9547171 rs10929579 G A 40.44 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=10.11;ReadPosRankSum=-1.026;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASAP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281419 GT:AD:DP:GQ:PL 0/1:2,2:4:58.84:70,0,59
2 9547944 rs35336030 A G 42.73 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=10.68;ReadPosRankSum=0.727;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASAP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281419 GT:AD:DP:GQ:PL 0/1:1,3:4:30.29:73,0,30
2 9552379 rs10929581 C T 377.35 PASS AB=0.52;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.408;DB;DP=25;Dels=0.0;FS=2.43;HRun=0;HaplotypeScore=10.9969;MQ=57.41;MQ0=0;MQRankSum=-0.626;QD=15.09;ReadPosRankSum=-0.571;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGB1BP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460001 GT:AD:DP:GQ:PL 0/1:13,12:25:99:407,0,305
2 9552383 rs112462761 A AT 207.39 PASS AB=0.692;AC=1;AF=0.50;AN=2;BaseQRankSum=3.75;DB;DP=27;FS=21.065;HRun=12;HaplotypeScore=134.7104;IndelType=I;MQ=57.14;MQ0=0;MQRankSum=-0.903;QD=7.68;ReadPosRankSum=-1.341;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGB1BP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460001 GT:AD:DP:GQ:PL 0/1:15,12:27:99:246,0,231
2 9554075 rs10199974 T G 111.18 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.72;QD=18.53;ReadPosRankSum=-1.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGB1BP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000238091 GT:AD:DP:GQ:PL 0/1:2,4:6:66.35:141,0,66
2 9554255 rs10208358 G A 768.41 PASS AB=0.574;AC=1;AF=0.50;AN=2;BaseQRankSum=3.931;DB;DP=68;Dels=0.0;FS=1.049;HRun=0;HaplotypeScore=0.9999;MQ=60.0;MQ0=0;MQRankSum=1.773;QD=11.3;ReadPosRankSum=-0.868;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGB1BP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000238091 GT:AD:DP:GQ:PL 0/1:39,29:68:99:798,0,1187
2 9554280 rs12474647 A T 1017.22 PASS AB=0.568;AC=1;AF=0.50;AN=2;BaseQRankSum=0.51;DB;DP=82;Dels=0.0;FS=7.944;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.263;QD=12.41;ReadPosRankSum=0.958;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGB1BP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000238091 GT:AD:DP:GQ:PL 0/1:46,35:82:99:1047,0,1520
2 9554461 rs10185646 C A 191.55 PASS AB=0.611;AC=1;AF=0.50;AN=2;BaseQRankSum=0.453;DB;DP=18;Dels=0.0;FS=4.102;HRun=1;HaplotypeScore=0.9665;MQ=60.0;MQ0=0;MQRankSum=0.815;QD=10.64;ReadPosRankSum=-0.272;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGB1BP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000238091 GT:AD:DP:GQ:PL 0/1:11,7:18:99:222,0,390
2 9569972 rs7589401 A T 356.81 PASS AB=0.45;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.95;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.66;MQ0=0;MQRankSum=1.032;QD=17.84;ReadPosRankSum=1.197;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CPSF3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000238112 GT:AD:DP:GQ:PL 0/1:9,11:20:99:387,0,271
2 9571054 rs2002044 C T 100.04 PASS AB=0.727;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.678;DB;DP=33;Dels=0.0;FS=8.3;HRun=0;HaplotypeScore=0.9734;MQ=60.0;MQ0=0;MQRankSum=1.031;QD=3.03;ReadPosRankSum=-0.222;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CPSF3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000238112 GT:AD:DP:GQ:PL 0/1:24,9:33:99:130,0,870
2 9572888 rs12478467 A T 49.76 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.307;DB;DP=9;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.307;QD=5.53;ReadPosRankSum=0.361;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CPSF3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475482 GT:AD:DP:GQ:PL 0/1:5,4:9:79.75:80,0,182
2 9576553 rs6432003 T C 352.35 PASS AB=0.316;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.201;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.78;MQ0=0;MQRankSum=-0.745;QD=18.54;ReadPosRankSum=2.5;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CPSF3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475482 GT:AD:DP:GQ:PL 0/1:6,13:19:99:382,0,195
2 9580540 rs111411247 G GT 267.71 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.271;DB;DP=14;FS=0.0;HRun=2;HaplotypeScore=36.8358;IndelType=I;MQ=60.0;MQ0=0;MQRankSum=-0.437;QD=19.12;ReadPosRankSum=-0.212;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CPSF3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000238112 GT:AD:DP:GQ:PL 0/1:6,8:14:99:307,0,147
2 9588537 rs71389246 ACTT A 284.39 PASS AB=0.759;AC=1;AF=0.50;AN=2;BaseQRankSum=3.73;DB;DP=22;FS=0.0;HRun=0;HaplotypeScore=90.7218;IndelType=D;MQ=57.81;MQ0=0;MQRankSum=-0.688;QD=12.93;ReadPosRankSum=-1.34;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CPSF3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000489629 GT:AD:DP:GQ:PL 0/1:15,7:22:99:323,0,822
2 9597171 rs35810297 T C 647.27 PASS AB=0.564;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.488;DB;DP=55;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.5115;MQ=60.0;MQ0=0;MQRankSum=-1.706;QD=11.77;ReadPosRankSum=-0.636;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CPSF3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000238112 GT:AD:DP:GQ:PL 0/1:31,24:55:99:677,0,1034
2 9614523 rs13411809 G A 132.23 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.365;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.66;MQ0=0;MQRankSum=0.0;QD=13.22;ReadPosRankSum=-0.365;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CPSF3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000238112 GT:AD:DP:GQ:PL 0/1:4,6:10:99:162,0,114
2 9621683 rs2276337 G A 82.61 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=20.65;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IAH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470914 GT:AD:DP:GQ:PL 0/1:1,3:4:29.72:113,0,30
2 9624794 rs17524376 T A 42.86 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9999;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=10.71;ReadPosRankSum=0.727;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADAM17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310823 GT:AD:DP:GQ:PL 0/1:1,3:4:32.73:73,0,33
2 9630231 rs6705408 C T 112.91 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.421;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.922;QD=14.11;ReadPosRankSum=0.922;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IAH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470914 GT:AD:DP:GQ:PL 0/1:4,4:8:99:143,0,144
2 9631340 rs10495562 T C 293.25 PASS AB=0.565;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.519;DB;DP=23;Dels=0.0;FS=6.193;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.023;QD=12.75;ReadPosRankSum=0.775;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IAH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470914 GT:AD:DP:GQ:PL 0/1:13,10:23:99:323,0,444
2 9633137 rs4622692 T G 174.92 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=1.517;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9933;MQ=60.0;MQ0=0;MQRankSum=-0.467;QD=12.49;ReadPosRankSum=0.583;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IAH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470914 GT:AD:DP:GQ:PL 0/1:6,7:14:99:205,0,162
2 9634100 rs883399 G A 75.16 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.231;QD=15.03;ReadPosRankSum=0.358;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IAH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470914 GT:AD:DP:GQ:PL 0/1:2,3:5:59.68:105,0,60
2 9634856 rs1048610 A G 937.79 PASS AB=0.475;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.552;DB;DP=61;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.4972;MQ=59.31;MQ0=0;MQRankSum=0.989;QD=15.37;ReadPosRankSum=0.267;SNPEFF_AMINO_ACID_CHANGE=S608;SNPEFF_CODON_CHANGE=tcT/tcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_9634766_9634896;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADAM17;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000310823 GT:AD:DP:GQ:PL 0/1:29,32:61:99:968,0,846
2 9642478 rs34367192 C T 414.43 PASS AB=0.588;AC=1;AF=0.50;AN=2;BaseQRankSum=3.832;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.8245;MQ=59.32;MQ0=0;MQRankSum=0.332;QD=12.19;ReadPosRankSum=0.927;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADAM17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310823 GT:AD:DP:GQ:PL 0/1:20,14:34:99:444,0,548
2 9642521 rs13031491 C T 101.08 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=2.637;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=1.239;QD=7.78;ReadPosRankSum=-1.134;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADAM17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310823 GT:AD:DP:GQ:PL 0/1:8,4:13:99:131,0,210
2 9650350 rs35431407 C CATAA 516.03 PASS AB=0.72;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.63;DB;DP=18;FS=0.0;HRun=0;HaplotypeScore=69.7552;IndelType=I;MQ=56.04;MQ0=0;MQRankSum=-2.626;QD=28.67;ReadPosRankSum=1.087;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADAM17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310823 GT:AD:DP:GQ:PL 0/1:11,7:18:99:555,0,614
2 9657947 rs2298763 A T 34.70 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.036;DB;DP=10;Dels=0.0;FS=0.0;HRun=6;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.365;QD=3.47;ReadPosRankSum=0.633;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADAM17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000497134 GT:AD:DP:GQ:PL 0/1:6,4:10:64.69:65,0,200
2 9661184 rs4328603 T C 88.82 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.61;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADAM17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000497134 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:121,9,0
2 9661589 rs4278906 C T 92.19 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.73;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADAM17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000497134 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:124,9,0
2 9983716 rs385513 A C 53.51 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.84;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAF1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263663 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:85,6,0
2 9989762 rs287989 T C 37.29 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.64;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAF1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000416181 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:69,6,0
2 9991556 rs287991 G A 494.56 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=9;HaplotypeScore=0.0;MQ=58.71;MQ0=0;QD=27.48;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAF1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000416181 GT:AD:DP:GQ:PL 1/1:0,18:18:42.13:528,42,0
2 9991867 rs287992 G A 97.92 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.637;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.29;MQ0=0;MQRankSum=0.466;QD=8.9;ReadPosRankSum=-0.717;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAF1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000416181 GT:AD:DP:GQ:PL 0/1:6,5:11:99:128,0,220
2 10023016 rs447465 T C 185.13 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.203;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.248;QD=20.57;ReadPosRankSum=-0.573;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAF1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263663 GT:AD:DP:GQ:PL 0/1:3,6:9:99:215,0,101
2 10044875 rs565683 A G 157.15 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.383;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9998;MQ=57.66;MQ0=0;MQRankSum=0.365;QD=15.71;ReadPosRankSum=0.741;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAF1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263663 GT:AD:DP:GQ:PL 0/1:4,6:10:99:187,0,134
2 10044941 rs450192 G T 550.94 SnpCluster AB=0.382;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.666;DB;DP=34;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=59.32;MQ0=0;MQRankSum=0.035;QD=16.2;ReadPosRankSum=-0.496;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAF1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263663 GT:AD:DP:GQ:PL 0/1:13,21:34:99:581,0,354
2 10044946 rs450194 G T 563.28 SnpCluster AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.257;DB;DP=36;Dels=0.0;FS=1.715;HRun=4;HaplotypeScore=0.0;MQ=59.36;MQ0=0;MQRankSum=-0.738;QD=15.65;ReadPosRankSum=0.481;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAF1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263663 GT:AD:DP:GQ:PL 0/1:15,21:36:99:593,0,435
2 10044951 rs2052948 A G 366.71 SnpCluster AB=0.553;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.611;DB;DP=38;Dels=0.0;FS=1.495;HRun=0;HaplotypeScore=0.0;MQ=59.39;MQ0=0;MQRankSum=0.088;QD=9.65;ReadPosRankSum=-1.409;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAF1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263663 GT:AD:DP:GQ:PL 0/1:21,17:38:99:397,0,722
2 10045014 rs400917 C T 1975.96 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=59.27;MQ0=0;QD=34.67;SNPEFF_AMINO_ACID_CHANGE=Y23;SNPEFF_CODON_CHANGE=taC/taT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_10044988_10045135;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAF1B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000396242 GT:AD:DP:GQ:PL 1/1:0,57:57:99:2009,147,0
2 10045024 rs396190 G A 2058.05 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.28;MQ0=0;QD=35.48;SNPEFF_AMINO_ACID_CHANGE=V27I;SNPEFF_CODON_CHANGE=Gta/Ata;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_10044988_10045135;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAF1B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000396242 GT:AD:DP:GQ:PL 1/1:0,58:58:99:2091,153,0
2 10045147 rs448327 A G 1854.98 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.35;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAF1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263663 GT:AD:DP:GQ:PL 1/1:0,54:54:99:1888,135,0
2 10050947 rs1054561 T C 571.50 PASS AB=0.528;AC=1;AF=0.50;AN=2;BaseQRankSum=0.951;DB;DP=36;Dels=0.0;FS=10.352;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.665;QD=15.87;ReadPosRankSum=-0.095;SNPEFF_AMINO_ACID_CHANGE=A346;SNPEFF_CODON_CHANGE=gcT/gcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_10050865_10051042;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAF1B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000263663 GT:AD:DP:GQ:PL 0/1:19,17:36:99:601,0,575
2 10050960 rs1054565 A G 491.81 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.595;DB;DP=38;Dels=0.0;FS=12.604;HRun=0;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=0.198;QD=12.94;ReadPosRankSum=-0.137;SNPEFF_AMINO_ACID_CHANGE=T351A;SNPEFF_CODON_CHANGE=Act/Gct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_10050865_10051042;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAF1B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000263663 GT:AD:DP:GQ:PL 0/1:19,19:38:99:522,0,577
2 10051053 rs10495576 G C 149.94 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=1.01;DB;DP=24;Dels=0.0;FS=4.416;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.317;QD=6.25;ReadPosRankSum=-1.01;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAF1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263663 GT:AD:DP:GQ:PL 0/1:16,8:24:99:180,0,543
2 10053412 rs12467598 C T 539.47 PASS AB=0.644;AC=1;AF=0.50;AN=2;BaseQRankSum=1.955;DB;DP=59;Dels=0.0;FS=2.977;HRun=2;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=-1.195;QD=9.14;ReadPosRankSum=-1.29;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAF1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263663 GT:AD:DP:GQ:PL 0/1:38,21:59:99:569,0,1217
2 10059097 rs2303921 A C 399.96 PASS AB=0.44;AC=1;AF=0.50;AN=2;BaseQRankSum=0.301;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.07;MQ0=0;MQRankSum=-0.027;QD=16.0;ReadPosRankSum=-0.082;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAF1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263663 GT:AD:DP:GQ:PL 0/1:11,14:25:99:430,0,383
2 10059620 rs1820966 G C 110.63 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=2.219;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.307;QD=12.29;ReadPosRankSum=-0.876;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAF1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263663 GT:AD:DP:GQ:PL 0/1:4,5:9:99:141,0,114
2 10059770 rs1820965 G T 1151.53 PASS AB=0.458;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.283;DB;DP=72;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.74;MQ0=0;MQRankSum=0.079;QD=15.99;ReadPosRankSum=0.983;SNPEFF_AMINO_ACID_CHANGE=E207D;SNPEFF_CODON_CHANGE=gaG/gaT;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_10059727_10059949;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAF1B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000396242 GT:AD:DP:GQ:PL 0/1:33,39:72:99:1182,0,1018
2 10094992 rs2303918 A G 2283.59 PASS AB=0.49;AC=1;AF=0.50;AN=2;BaseQRankSum=3.095;DB;DP=159;Dels=0.0;FS=3.122;HRun=0;HaplotypeScore=3.4527;MQ=59.06;MQ0=0;MQRankSum=0.043;QD=14.36;ReadPosRankSum=0.564;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GRHL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000324883 GT:AD:DP:GQ:PL 0/1:76,79:159:99:2314,0,2069
2 10137119 rs2357394 A G 655.78 PASS AB=0.536;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.703;DB;DP=56;Dels=0.0;FS=1.034;HRun=0;HaplotypeScore=1.6281;MQ=59.17;MQ0=0;MQRankSum=-0.189;QD=11.71;ReadPosRankSum=0.633;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GRHL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000324883 GT:AD:DP:GQ:PL 0/1:30,26:56:99:686,0,955
2 10206266 . G A 70.63 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=17.66;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000381813 GT:AD:DP:GQ:PL 0/1:1,3:4:10.66:100,0,11
2 10225241 rs6432058 C T 322.64 PASS AB=0.536;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.366;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.33;MQ0=0;MQRankSum=-0.561;QD=11.52;ReadPosRankSum=0.22;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000381813 GT:AD:DP:GQ:PL 0/1:15,13:28:99:353,0,488
2 10226306 rs34098251 G GC 371.96 PASS AB=0.686;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.448;DB;DP=24;FS=0.0;HRun=1;HaplotypeScore=59.6854;IndelType=I;MQ=58.52;MQ0=0;MQRankSum=-0.174;QD=15.5;ReadPosRankSum=0.058;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=snoRNA;SNPEFF_GENE_NAME=SNORA26;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000391256 GT:AD:DP:GQ:PL 0/1:13,11:24:99:411,0,427
2 10262920 rs1130609 T G 79.18 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=19.79;SNPEFF_AMINO_ACID_CHANGE=S59A;SNPEFF_CODON_CHANGE=Tcc/Gcc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_10262455_10263024;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RRM2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000360566 GT:AD:DP:GQ:PL 1/1:0,4:4:9.02:111,9,0
2 10264057 rs6432065 T C 801.78 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.23;MQ0=0;QD=26.73;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RRM2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461327 GT:AD:DP:GQ:PL 1/1:1,29:30:72.18:835,72,0
2 10264709 rs6741290 T C 408.65 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.15;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RRM2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000459969 GT:AD:DP:GQ:PL 1/1:0,11:11:33.11:442,33,0
2 10282679 rs78304312 G GC 127.16 PASS AC=2;AF=1.00;AN=2;DB;DP=5;FS=0.0;HRun=1;HaplotypeScore=23.4186;IndelType=I;MQ=57.52;MQ0=0;QD=25.43;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf48;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000381786 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:169,12,0
2 10563236 rs55737425 G A 449.87 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.327;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.9;MQ0=0;MQRankSum=-1.123;QD=26.46;ReadPosRankSum=0.919;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HPCAL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000423674 GT:AD:DP:GQ:PL 1/1:1,16:17:1.49:479,1,0
2 10566792 rs2270306 C G 2738.58 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.69;DB;DP=84;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7273;MQ=59.23;MQ0=0;MQRankSum=-1.231;QD=32.6;ReadPosRankSum=-0.397;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HPCAL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307845 GT:AD:DP:GQ:PL 1/1:1,83:84:99:2772,211,0
2 10566804 rs2270307 A G 3053.28 PASS AC=2;AF=1.00;AN=2;DB;DP=99;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9933;MQ=59.34;MQ0=0;QD=30.84;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HPCAL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307845 GT:AD:DP:GQ:PL 1/1:0,99:99:99:3086,244,0
2 10567082 rs1042953 A G 113.86 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.731;QD=22.77;ReadPosRankSum=0.731;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HPCAL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307845 GT:AD:DP:GQ:PL 0/1:1,4:5:23.53:144,0,24
2 10583160 rs1405948 G A 33.83 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.82;MQ0=0;MQRankSum=0.72;QD=5.64;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ODC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443218 GT:AD:DP:GQ:PL 0/1:4,2:6:63.82:64,0,145
2 10595578 rs6432097 T C 210.13 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.652;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.209;QD=13.13;ReadPosRankSum=-1.448;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RP11-320M2.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000547349 GT:AD:DP:GQ:PL 0/1:8,8:16:99:240,0,252
2 10711941 rs10172924 C A 42.20 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=33.24;MQ0=0;QD=21.1;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOL10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000538384 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:73,6,0
2 10717714 rs12473957 G C 1851.18 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.924;DB;DP=60;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.097;QD=30.85;ReadPosRankSum=1.328;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOL10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000345985 GT:AD:DP:GQ:PL 1/1:1,59:60:99:1884,110,0
2 10718007 rs7570118 G T 479.78 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOL10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000345985 GT:AD:DP:GQ:PL 1/1:0,13:13:39.13:513,39,0
2 10729032 rs6714787 C T 1195.11 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.5949;MQ=59.39;MQ0=0;QD=31.45;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOL10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000345985 GT:AD:DP:GQ:PL 1/1:0,38:38:93.30:1228,93,0
2 10729554 rs759402 A T 695.45 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.61;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOL10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000345985 GT:AD:DP:GQ:PL 1/1:0,22:22:60.16:728,60,0
2 10729897 rs759403 C T 1535.75 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.5981;MQ=59.46;MQ0=0;QD=35.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOL10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000345985 GT:AD:DP:GQ:PL 1/1:0,43:43:99:1569,117,0
2 10741141 rs10181806 A G 478.52 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.2;MQ0=0;QD=36.81;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOL10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000345985 GT:AD:DP:GQ:PL 1/1:0,13:13:39.13:512,39,0
2 10743153 rs2287061 C T 1154.21 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.28;MQ0=0;QD=36.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOL10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000345985 GT:AD:DP:GQ:PL 1/1:0,32:32:93.21:1187,93,0
2 10743191 rs2287062 G A 1947.93 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.58;MQ0=0;QD=35.42;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOL10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000345985 GT:AD:DP:GQ:PL 1/1:0,55:55:99:1981,144,0
2 10743546 rs1309 A G 52.75 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOL10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000345985 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
2 10747207 rs6759714 A G 206.82 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.47;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOL10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000345985 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:240,18,0
2 10747246 rs6744854 C G 511.99 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.13;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOL10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000345985 GT:AD:DP:GQ:PL 1/1:0,15:15:42.13:545,42,0
2 10747271 rs6759740 A G 691.10 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=59.22;MQ0=0;QD=28.8;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOL10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000345985 GT:AD:DP:GQ:PL 1/1:0,24:24:57.17:724,57,0
2 10762302 rs76702332 TA T 1081.54 PASS AC=2;AF=1.00;AN=2;DB;DP=31;FS=0.0;HRun=2;HaplotypeScore=83.0981;IndelType=D;MQ=61.04;MQ0=0;QD=34.89;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOL10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000345985 GT:AD:DP:GQ:PL 1/1:1,30:31:87.28:1124,87,0
2 10808776 rs55925118 C CAA 1031.81 PASS AC=2;AF=1.00;AN=2;DB;DP=18;FS=0.0;HRun=4;HaplotypeScore=42.0801;IndelType=I;MQ=60.53;MQ0=0;QD=57.32;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOL10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473087 GT:AD:DP:GQ:PL 1/1:0,18:18:54.18:1074,54,0
2 10811607 . G A 700.39 PASS AB=0.49;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.091;DP=49;Dels=0.0;FS=1.821;HRun=0;HaplotypeScore=0.5784;MQ=58.58;MQ0=0;MQRankSum=0.963;QD=14.29;ReadPosRankSum=0.681;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOL10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473087 GT:AD:DP:GQ:PL 0/1:24,25:49:99:730,0,693
2 10813782 rs6748766 T C 613.20 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOL10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000345985 GT:AD:DP:GQ:PL 1/1:0,17:17:48.16:646,48,0
2 10815833 rs9287721 A G 471.62 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.69;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOL10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000345985 GT:AD:DP:GQ:PL 1/1:0,14:14:39.12:505,39,0
2 10908893 rs1198849 A G 729.49 PASS AB=0.591;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.48;DB;DP=66;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=1.989;QD=11.05;ReadPosRankSum=-0.408;SNPEFF_AMINO_ACID_CHANGE=N143D;SNPEFF_CODON_CHANGE=Aac/Gac;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_10908845_10908936;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP6V1C2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000272238 GT:AD:DP:GQ:PL 0/1:39,27:66:99:759,0,1191
2 10911891 rs1198850 T C 1562.22 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;QD=39.06;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP6V1C2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272238 GT:AD:DP:GQ:PL 1/1:0,40:40:99:1595,117,0
2 10912153 rs2171773 T G 244.85 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.893;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.5774;MQ=60.0;MQ0=0;MQRankSum=-2.678;QD=15.3;ReadPosRankSum=-0.263;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP6V1C2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272238 GT:AD:DP:GQ:PL 0/1:8,8:16:99:275,0,224
2 10912719 rs72777388 G A 2593.13 PASS AB=0.549;AC=1;AF=0.50;AN=2;BaseQRankSum=0.342;DB;DP=206;DS;Dels=0.0;FS=4.26;HRun=0;HaplotypeScore=4.7323;MQ=59.44;MQ0=0;MQRankSum=0.484;QD=12.59;ReadPosRankSum=-0.287;SNPEFF_AMINO_ACID_CHANGE=V207;SNPEFF_CODON_CHANGE=gtG/gtA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_10912668_10912736;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP6V1C2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000272238 GT:AD:DP:GQ:PL 0/1:113,93:206:99:2623,0,3404
2 10914867 rs56195743 A T 1353.91 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=2.511;DB;DP=86;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.46;MQ0=0;MQRankSum=0.556;QD=15.74;ReadPosRankSum=0.448;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP6V1C2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272238 GT:AD:DP:GQ:PL 0/1:40,45:86:99:1384,0,1227
2 10915020 rs2969881 A G 1359.74 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.912;DB;DP=77;Dels=0.0;FS=1.056;HRun=2;HaplotypeScore=2.6744;MQ=59.7;MQ0=0;MQRankSum=0.23;QD=17.66;ReadPosRankSum=1.28;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP6V1C2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272238 GT:AD:DP:GQ:PL 0/1:33,44:77:99:1390,0,1069
2 10917555 rs72777393 C T 53.58 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.358;QD=10.72;ReadPosRankSum=-0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP6V1C2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272238 GT:AD:DP:GQ:PL 0/1:2,3:5:68.84:84,0,69
2 10922516 rs1686482 A C 759.93 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.04;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDIA6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272227 GT:AD:DP:GQ:PL 1/1:0,23:23:63.17:793,63,0
2 10924524 rs1198873 T C 223.34 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.82;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP6V1C2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272238 GT:AD:DP:GQ:PL 1/1:0,9:9:24.04:256,24,0
2 10927345 rs1686510 T C 531.17 PASS AB=0.474;AC=1;AF=0.50;AN=2;BaseQRankSum=0.248;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.6643;MQ=58.92;MQ0=0;MQRankSum=-0.102;QD=13.62;ReadPosRankSum=-2.383;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP6V1C2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272238 GT:AD:DP:GQ:PL 0/1:18,20:39:99:561,0,644
2 10928610 rs1734434 T C 278.46 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.81;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP6V1C2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000381661 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:311,24,0
2 10928694 rs11409434 G GA 406.67 PASS AB=0.627;AC=1;AF=0.50;AN=2;BaseQRankSum=1.649;DB;DP=42;FS=0.0;HRun=14;HaplotypeScore=493.6967;IndelType=I;MQ=50.72;MQ0=0;MQRankSum=-0.791;QD=9.68;ReadPosRankSum=-1.513;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP6V1C2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000381661 GT:AD:DP:GQ:PL 0/1:16,16:42:6.13:445,0,6
2 10928710 rs1734433 A C 456.48 PASS AB=0.554;AC=1;AF=0.50;AN=2;BaseQRankSum=1.75;DB;DP=57;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=6.5032;MQ=53.1;MQ0=0;MQRankSum=-0.592;QD=8.01;ReadPosRankSum=0.818;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP6V1C2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000381661 GT:AD:DP:GQ:PL 0/1:31,25:57:99:486,0,566
2 10928777 rs2952626 A C 5410.53 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.159;DB;DP=162;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7262;MQ=58.62;MQ0=0;MQRankSum=0.333;QD=33.4;ReadPosRankSum=0.126;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP6V1C2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000381661 GT:AD:DP:GQ:PL 1/1:2,160:162:99:5411,372,0
2 10928906 rs1734432 T C 5447.37 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.296;DB;DP=152;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9981;MQ=58.93;MQ0=0;MQRankSum=-0.562;QD=35.84;ReadPosRankSum=1.434;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP6V1C2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000381661 GT:AD:DP:GQ:PL 1/1:1,151:152:99:5447,363,0
2 10928962 rs1734431 A G 3324.03 PASS AC=2;AF=1.00;AN=2;DB;DP=100;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.77;MQ0=0;QD=33.24;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP6V1C2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000381661 GT:AD:DP:GQ:PL 1/1:0,100:100:99:3324,268,0
2 10929133 rs1734430 A G 1664.05 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.98;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP6V1C2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000381661 GT:AD:DP:GQ:PL 1/1:0,45:45:99:1697,126,0
2 10929867 rs11904084 T C 1831.53 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7791;MQ=59.16;MQ0=0;QD=33.3;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP6V1C2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000381661 GT:AD:DP:GQ:PL 1/1:0,55:55:99:1865,141,0
2 10930050 rs1686514 A T 1136.57 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=55.93;MQ0=0;QD=33.43;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP6V1C2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000381661 GT:AD:DP:GQ:PL 1/1:0,34:34:93.26:1170,93,0
2 10930106 rs3841902 ATTT A 107.26 PASS AC=2;AF=1.00;AN=2;DB;DP=10;FS=0.0;HRun=18;HaplotypeScore=80.8606;IndelType=D;MQ=47.12;MQ0=0;QD=10.73;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP6V1C2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000381661 GT:AD:DP:GQ:PL 1/1:4,5:10:17.60:149,18,0
2 10930903 rs4807 T C 1617.38 PASS AB=0.48;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.122;DB;DP=127;Dels=0.0;FS=0.77;HRun=0;HaplotypeScore=0.734;MQ=59.64;MQ0=0;MQRankSum=1.249;QD=12.74;ReadPosRankSum=-0.362;SNPEFF_AMINO_ACID_CHANGE=K211R;SNPEFF_CODON_CHANGE=aAa/aGa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_10930845_10930959;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDIA6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000540494 GT:AD:DP:GQ:PL 0/1:61,66:127:99:1647,0,1824
2 10931001 rs1614107 A G 755.27 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9973;MQ=60.0;MQ0=0;QD=29.05;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDIA6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272227 GT:AD:DP:GQ:PL 1/1:0,26:26:60.17:788,60,0
2 10931046 rs1734419 G A 330.49 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.05;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDIA6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272227 GT:AD:DP:GQ:PL 1/1:0,10:10:30.09:363,30,0
2 10931063 rs1734420 T C 310.69 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.52;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDIA6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272227 GT:AD:DP:GQ:PL 1/1:0,9:9:27.06:344,27,0
2 10932082 rs1734421 T C 946.29 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.2;MQ0=0;QD=32.63;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDIA6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272227 GT:AD:DP:GQ:PL 1/1:0,29:29:72.23:979,72,0
2 10932207 rs1734422 C A 253.90 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.74;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDIA6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272227 GT:AD:DP:GQ:PL 1/1:0,8:8:24.06:287,24,0
2 10933249 rs4799 C T 922.81 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.33;MQ0=0;QD=32.96;SNPEFF_AMINO_ACID_CHANGE=R139;SNPEFF_CODON_CHANGE=cgG/cgA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_10933222_10933328;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDIA6;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000540494 GT:AD:DP:GQ:PL 1/1:0,28:28:72.23:956,72,0
2 10933346 rs75715279 T TAGGC 731.95 PASS AB=0.677;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.191;DB;DP=21;FS=0.0;HRun=0;HaplotypeScore=75.8172;IndelType=I;MQ=58.3;MQ0=0;MQRankSum=0.076;QD=34.85;ReadPosRankSum=0.608;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDIA6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000489662 GT:AD:DP:GQ:PL 0/1:11,10:21:99:771,0,444
2 10933421 rs1686517 G A 92.66 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.89;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDIA6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000489662 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:125,9,0
2 10937037 rs1734343 T G 87.24 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.08;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDIA6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000489662 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:119,9,0
2 10937065 rs1734344 T C 36.84 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.231;QD=7.37;ReadPosRankSum=0.358;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDIA6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000489662 GT:AD:DP:GQ:PL 0/1:3,2:5:66.83:67,0,100
2 10937095 rs56147885 T A 49.14 PASS AB=0.692;AC=1;AF=0.50;AN=2;BaseQRankSum=0.849;DB;DP=13;Dels=0.0;FS=5.119;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.694;QD=3.78;ReadPosRankSum=0.849;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDIA6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000489662 GT:AD:DP:GQ:PL 0/1:9,4:13:79.13:79,0,331
2 10937409 rs1686444 C T 617.50 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.073;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.073;QD=29.4;ReadPosRankSum=0.248;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDIA6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272227 GT:AD:DP:GQ:PL 1/1:1,20:21:15.60:650,16,0
2 10937687 rs1734346 G A 418.57 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.05;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDIA6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272227 GT:AD:DP:GQ:PL 1/1:0,11:11:33.11:452,33,0
2 10938043 rs56346617 T G 272.59 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDIA6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272227 GT:AD:DP:GQ:PL 1/1:0,8:8:24.06:306,24,0
2 10942333 rs1734359 T C 68.27 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=41.96;MQ0=0;QD=22.76;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDIA6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272227 GT:AD:DP:GQ:PL 1/1:0,3:3:9.02:100,9,0
2 10942354 rs1686435 G A 76.59 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=41.96;MQ0=0;QD=25.53;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDIA6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272227 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:109,9,0
2 10942392 rs1734360 A G 111.53 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=47.12;MQ0=0;QD=27.88;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDIA6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272227 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:144,12,0
2 10942411 rs1734361 G T 114.18 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=47.12;MQ0=0;QD=28.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDIA6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272227 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:147,12,0
2 10942520 rs2306922 C T 321.30 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.489;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.71;MQ0=0;MQRankSum=-1.569;QD=11.9;ReadPosRankSum=0.694;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDIA6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272227 GT:AD:DP:GQ:PL 0/1:15,12:27:99:351,0,493
2 10942567 rs1686434 G A 1551.82 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.027;DB;DP=46;Dels=0.0;FS=6.825;HRun=0;HaplotypeScore=0.5784;MQ=55.86;MQ0=0;MQRankSum=-0.081;QD=33.74;ReadPosRankSum=1.374;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDIA6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272227 GT:AD:DP:GQ:PL 1/1:2,44:46:81.61:1585,82,0
2 10942644 . C A 127.11 FSFilter60;QDFilter2 AB=0.577;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.728;DP=71;Dels=0.0;FS=92.642;HRun=2;HaplotypeScore=5.0403;MQ=56.05;MQ0=0;MQRankSum=-0.132;QD=1.79;ReadPosRankSum=1.307;SNPEFF_AMINO_ACID_CHANGE=V100L;SNPEFF_CODON_CHANGE=Gta/Tta;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_10942625_10942766;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDIA6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000404371 GT:AD:DP:GQ:PL 0/1:41,30:71:99:157,0,1294
2 10942687 rs4758 C T 1836.88 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.03;MQ0=0;QD=32.23;SNPEFF_AMINO_ACID_CHANGE=S30;SNPEFF_CODON_CHANGE=tcG/tcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_10942625_10942766;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDIA6;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000540494 GT:AD:DP:GQ:PL 1/1:0,57:57:99:1870,138,0
2 10952790 rs6726687 T C 83.04 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.68;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDIA6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272227 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:115,9,0
2 10959292 rs56321198 C A 107.09 PASS AB=0.737;AC=1;AF=0.50;AN=2;BaseQRankSum=1.713;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.78;MQ0=0;MQRankSum=-0.231;QD=5.64;ReadPosRankSum=0.417;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDIA6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000458536 GT:AD:DP:GQ:PL 0/1:14,5:19:99:137,0,516
2 10959384 rs55770944 A G 763.17 PASS AB=0.595;AC=1;AF=0.50;AN=2;BaseQRankSum=1.878;DB;DP=75;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=1.9243;MQ=59.69;MQ0=0;MQRankSum=0.151;QD=10.18;ReadPosRankSum=1.553;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDIA6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000458536 GT:AD:DP:GQ:PL 0/1:44,30:75:99:793,0,1361
2 10959407 rs72779451 A C 1182.70 PASS AB=0.559;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.744;DB;DP=93;Dels=0.0;FS=5.687;HRun=1;HaplotypeScore=0.9997;MQ=59.75;MQ0=0;MQRankSum=-0.043;QD=12.72;ReadPosRankSum=-0.61;SNPEFF_AMINO_ACID_CHANGE=N52K;SNPEFF_CODON_CHANGE=aaT/aaG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_10959400_10959480;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDIA6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000404824 GT:AD:DP:GQ:PL 0/1:52,41:93:99:1213,0,1630
2 10959461 rs72779452 G T 1055.50 PASS AB=0.562;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.496;DB;DP=90;Dels=0.0;FS=0.797;HRun=0;HaplotypeScore=1.7128;MQ=59.28;MQ0=0;MQRankSum=0.227;QD=11.73;ReadPosRankSum=-0.134;SNPEFF_AMINO_ACID_CHANGE=A34;SNPEFF_CODON_CHANGE=gcC/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_10959400_10959480;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDIA6;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000404824 GT:AD:DP:GQ:PL 0/1:50,39:90:99:1085,0,1344
2 10959475 rs72779453 G C 1052.14 PASS AB=0.506;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.654;DB;DP=85;Dels=0.0;FS=0.856;HRun=0;HaplotypeScore=0.9789;MQ=59.51;MQ0=0;MQRankSum=-0.719;QD=12.38;ReadPosRankSum=0.005;SNPEFF_AMINO_ACID_CHANGE=P30A;SNPEFF_CODON_CHANGE=Cca/Gca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_10959400_10959480;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDIA6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000404824 GT:AD:DP:GQ:PL 0/1:43,42:85:99:1082,0,1298
2 10960952 rs56025654 G A 48.72 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.36;SNPEFF_AMINO_ACID_CHANGE=C13;SNPEFF_CODON_CHANGE=tgC/tgT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_10960897_10961044;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDIA6;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000404371 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:80,6,0
2 10987581 rs73174567 T A 42.26 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.583;DB;DP=12;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=56.04;MQ0=0;MQRankSum=0.0;QD=3.52;ReadPosRankSum=-0.869;SNPEFF_EFFECT=INTERGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 0/1:6,6:12:72.26:72,0,198
2 10987911 rs72781405 G A 68.33 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=0.988;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.406;QD=9.76;ReadPosRankSum=0.406;SNPEFF_EFFECT=INTRAGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC092687.4;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 0/1:4,3:7:94.37:98,0,94
2 10994418 rs1198852 T C 337.46 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.68;SNPEFF_EFFECT=INTRAGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC092687.4;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 1/1:0,11:11:30.05:370,30,0
2 10994937 rs1198851 C T 258.98 PASS AB=0.542;AC=1;AF=0.50;AN=2;BaseQRankSum=0.058;DB;DP=24;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.811;QD=10.79;ReadPosRankSum=-0.637;SNPEFF_EFFECT=INTRAGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC092687.4;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 0/1:13,11:24:99:289,0,421
2 11053020 rs3732104 A G 773.84 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.64;SNPEFF_AMINO_ACID_CHANGE=A156;SNPEFF_CODON_CHANGE=gcA/gcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_11052063_11054350;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNF1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000295082 GT:AD:DP:GQ:PL 1/1:0,28:28:66.18:807,66,0
2 11264830 rs7560331 G A 773.09 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.2;MQ0=0;QD=29.73;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC062028.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000396164 GT:AD:DP:GQ:PL 1/1:0,26:26:60.20:806,60,0
2 11273813 rs6751137 T C 298.43 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=47.91;MQ0=0;QD=27.13;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf50;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000381585 GT:AD:DP:GQ:PL 1/1:0,11:11:30.04:331,30,0
2 11300869 rs6432182 T C 602.91 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.06;MQ0=0;QD=26.21;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PQLC3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295083 GT:AD:DP:GQ:PL 1/1:1,21:23:54.13:636,54,0
2 11312224 rs3732103 C T 477.69 PASS AB=0.61;AC=1;AF=0.50;AN=2;BaseQRankSum=3.907;DB;DP=41;Dels=0.0;FS=2.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.152;QD=11.65;ReadPosRankSum=1.56;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PQLC3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000445402 GT:AD:DP:GQ:PL 0/1:25,16:41:99:508,0,681
2 11333994 rs2271621 T G 271.65 PASS AB=0.522;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.646;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=58.99;MQ0=0;MQRankSum=1.077;QD=11.81;ReadPosRankSum=1.077;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ROCK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460262 GT:AD:DP:GQ:PL 0/1:12,11:23:99:302,0,368
2 11359031 rs9808228 G T 879.28 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.57;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ROCK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000431087 GT:AD:DP:GQ:PL 1/1:0,27:27:75.19:912,75,0
2 11362351 rs2122385 G A 414.17 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.738;DB;DP=40;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=59.38;MQ0=0;MQRankSum=-0.056;QD=10.35;ReadPosRankSum=-1.313;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ROCK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315872 GT:AD:DP:GQ:PL 0/1:25,15:40:99:444,0,865
2 11682754 rs112143277 C CG 775.70 PASS AC=2;AF=1.00;AN=2;DB;DP=22;FS=0.0;HRun=6;HaplotypeScore=112.5282;IndelType=I;MQ=62.41;MQ0=0;QD=35.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GREB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263834 GT:AD:DP:GQ:PL 1/1:0,22:22:66.21:818,66,0
2 11682796 rs12620490 A T 2006.56 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9385;MQ=60.54;MQ0=0;QD=34.6;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GREB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263834 GT:AD:DP:GQ:PL 1/1:0,58:58:99:2040,156,0
2 11683074 rs10929754 T G 134.02 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.51;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GREB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263834 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:167,12,0
2 11702661 rs10929757 A C 2219.38 PASS AC=2;AF=1.00;AN=2;DB;DP=77;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=59.16;MQ0=0;QD=28.82;SNPEFF_AMINO_ACID_CHANGE=N77T;SNPEFF_CODON_CHANGE=aAc/aCc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_11702589_11702708;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GREB1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000234142 GT:AD:DP:GQ:PL 1/1:0,77:77:99:2252,187,0
2 11718591 rs1529868 C T 176.47 PASS AB=0.65;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.585;DB;DP=20;Dels=0.0;FS=4.506;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.634;QD=8.82;ReadPosRankSum=0.158;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GREB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234142 GT:AD:DP:GQ:PL 0/1:13,7:20:99:206,0,455
2 11720986 rs13004648 G A 119.71 PASS AB=0.688;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.34;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=57.05;MQ0=0;MQRankSum=0.0;QD=7.48;ReadPosRankSum=-0.453;SNPEFF_AMINO_ACID_CHANGE=G200E;SNPEFF_CODON_CHANGE=gGg/gAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_11720830_11721391;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GREB1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000389825 GT:AD:DP:GQ:PL 0/1:11,5:16:99:150,0,394
2 11725947 rs35188552 T C 1087.81 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.08;SNPEFF_AMINO_ACID_CHANGE=F359L;SNPEFF_CODON_CHANGE=Ttt/Ctt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_11725888_11726031;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GREB1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000234142 GT:AD:DP:GQ:PL 1/1:0,35:35:90.28:1121,90,0
2 11726061 rs113066358 G GA 1661.02 PASS AC=2;AF=1.00;AN=2;DB;DP=38;FS=0.0;HRun=1;HaplotypeScore=80.6031;IndelType=I;MQ=61.41;MQ0=0;QD=43.71;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GREB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389825 GT:AD:DP:GQ:PL 1/1:0,38:38:99:1703,114,0
2 11727393 rs70955805 TG T 1961.27 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.355;DB;DP=52;FS=4.184;HRun=1;HaplotypeScore=136.7473;IndelType=D;MQ=59.32;MQ0=0;MQRankSum=-0.928;QD=37.72;ReadPosRankSum=-1.071;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GREB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234142 GT:AD:DP:GQ:PL 1/1:2,50:52:60.51:2003,61,0
2 11727507 rs13394619 G A 1819.17 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.09;MQ0=0;QD=35.67;SNPEFF_EFFECT=SPLICE_SITE_ACCEPTOR;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GREB1;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000263834 GT:AD:DP:GQ:PL 1/1:0,51:51:99:1852,135,0
2 11729096 rs35587928 G A 1056.91 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.75;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GREB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263834 GT:AD:DP:GQ:PL 1/1:0,28:28:81.26:1090,81,0
2 11736305 rs36030386 G A 1129.44 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.866;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.05;MQ0=0;MQRankSum=1.444;QD=31.37;ReadPosRankSum=-0.481;SNPEFF_AMINO_ACID_CHANGE=A266T;SNPEFF_CODON_CHANGE=Gct/Act;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_11736237_11736365;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GREB1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000432985 GT:AD:DP:GQ:PL 1/1:1,35:36:59.87:1162,60,0
2 11738091 rs1435547 T C 5437.18 PASS AC=2;AF=1.00;AN=2;DB;DP=174;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.3985;MQ=59.74;MQ0=0;QD=31.25;SNPEFF_AMINO_ACID_CHANGE=H347;SNPEFF_CODON_CHANGE=caT/caC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_11737907_11738104;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GREB1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000432985 GT:AD:DP:GQ:PL 1/1:0,174:174:99:5437,445,0
2 11738765 rs1865575 C T 1706.49 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.13;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GREB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234142 GT:AD:DP:GQ:PL 1/1:0,50:50:99:1739,135,0
2 11741157 rs16857679 A G 200.86 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=0.887;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.89;MQ0=0;MQRankSum=0.347;QD=9.56;ReadPosRankSum=1.042;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GREB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234142 GT:AD:DP:GQ:PL 0/1:12,9:21:99:231,0,397
2 11741193 rs11681838 C A 328.59 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=57.87;MQ0=0;QD=29.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GREB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234142 GT:AD:DP:GQ:PL 1/1:1,10:11:27.09:362,27,0
2 11752635 rs2304399 T C 1584.59 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.6;MQ0=0;QD=33.71;SNPEFF_AMINO_ACID_CHANGE=I1007;SNPEFF_CODON_CHANGE=atT/atC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_11752621_11752736;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GREB1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000234142 GT:AD:DP:GQ:PL 1/1:0,47:47:99:1618,126,0
2 11752919 rs3816096 G A 51.75 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.87;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GREB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000432985 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:83,6,0
2 11755443 rs2252958 T G 111.91 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.307;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.159;QD=12.43;ReadPosRankSum=-0.361;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GREB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000432985 GT:AD:DP:GQ:PL 0/1:4,5:9:99:142,0,145
2 11757009 rs6735957 A G 52.75 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GREB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234142 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
2 11757023 rs892868 C T 90.43 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GREB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234142 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:122,9,0
2 11757076 rs3792038 G C 52.28 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GREB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234142 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
2 11757086 rs3792037 G A 48.72 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GREB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234142 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:80,6,0
2 11758261 rs7421823 C T 43.69 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=42.83;MQ0=0;MQRankSum=-0.731;QD=8.74;ReadPosRankSum=0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GREB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234142 GT:AD:DP:GQ:PL 0/1:1,4:5:28.64:74,0,29
2 11758262 rs114657975 C G 40.68 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=0.198;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=48.36;MQ0=0;MQRankSum=-0.922;QD=5.81;ReadPosRankSum=0.922;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GREB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234142 GT:AD:DP:GQ:PL 0/1:2,5:7:65.01:71,0,65
2 11761309 rs2304401 T C 76.33 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.44;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GREB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472040 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:108,9,0
2 11766895 . A G 34.81 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=11.6;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GREB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234142 GT:AD:DP:GQ:PL 0/1:1,2:3:30.98:65,0,31
2 11774324 rs2304402 G A 829.83 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=1.236;DB;DP=52;Dels=0.0;FS=1.088;HRun=1;HaplotypeScore=1.8773;MQ=60.0;MQ0=0;MQRankSum=0.085;QD=15.96;ReadPosRankSum=0.745;SNPEFF_AMINO_ACID_CHANGE=D1687N;SNPEFF_CODON_CHANGE=Gac/Aac;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_11774257_11774475;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GREB1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000234142 GT:AD:DP:GQ:PL 0/1:24,28:52:99:860,0,626
2 11905636 rs5829328 GT G 447.24 PASS AB=0.604;AC=1;AF=0.50;AN=2;BaseQRankSum=3.349;DB;DP=32;FS=0.0;HRun=9;HaplotypeScore=79.7788;IndelType=D;MQ=58.88;MQ0=0;MQRankSum=-0.407;QD=13.98;ReadPosRankSum=-0.407;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LPIN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256720 GT:AD:DP:GQ:PL 0/1:11,21:32:99:486,0,222
2 11905876 rs10209969 C T 337.96 PASS AB=0.567;AC=1;AF=0.50;AN=2;BaseQRankSum=3.809;DB;DP=30;Dels=0.0;FS=2.418;HRun=0;HaplotypeScore=2.7337;MQ=60.0;MQ0=0;MQRankSum=0.921;QD=11.27;ReadPosRankSum=-0.502;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LPIN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000423495 GT:AD:DP:GQ:PL 0/1:17,13:30:99:368,0,486
2 11919498 rs2289193 G A 98.11 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=2.52;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=8.92;ReadPosRankSum=2.037;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LPIN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256720 GT:AD:DP:GQ:PL 0/1:7,4:11:99:128,0,206
2 11922855 rs7587836 A G 52.22 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.11;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LPIN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256720 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:83,6,0
2 11924293 rs3762583 G A 40.30 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=13.43;ReadPosRankSum=-0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LPIN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000396098 GT:AD:DP:GQ:PL 0/1:1,2:3:33.62:70,0,34
2 11924950 rs3795974 T C 385.33 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=0.983;DB;DP=35;Dels=0.0;FS=1.565;HRun=0;HaplotypeScore=0.0;MQ=59.47;MQ0=0;MQRankSum=0.283;QD=11.01;ReadPosRankSum=0.917;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LPIN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000396098 GT:AD:DP:GQ:PL 0/1:20,15:35:99:415,0,556
2 11931931 rs78343196 A AT 670.24 PASS AB=0.707;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.116;DB;DP=65;FS=0.0;HRun=9;HaplotypeScore=168.0478;IndelType=I;MQ=59.81;MQ0=0;MQRankSum=0.426;QD=10.31;ReadPosRankSum=0.951;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LPIN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256720 GT:AD:DP:GQ:PL 0/1:38,26:65:99:709,0,587
2 11932173 rs7561070 G T 187.43 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.101;DB;DP=13;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.2;MQ0=0;MQRankSum=-0.66;QD=14.42;ReadPosRankSum=-0.935;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LPIN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256720 GT:AD:DP:GQ:PL 0/1:6,7:13:99:217,0,214
2 11936798 rs2577264 A G 64.38 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.684;DB;DP=9;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.322;QD=7.15;ReadPosRankSum=-1.221;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LPIN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464953 GT:AD:DP:GQ:PL 0/1:6,3:9:94.37:94,0,174
2 12163800 rs4669796 C G 565.58 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=3.405;DB;DP=46;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=59.01;MQ0=0;MQRankSum=0.593;QD=12.03;ReadPosRankSum=0.505;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AC096559.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000412294 GT:AD:DP:GQ:PL 0/1:23,23:46:99:596,0,713
2 12164189 rs4668745 C T 1915.16 PASS AB=0.521;AC=1;AF=0.50;AN=2;BaseQRankSum=3.849;DB;DP=148;Dels=0.0;FS=1.348;HRun=0;HaplotypeScore=4.2186;MQ=54.22;MQ0=2;MQRankSum=-0.645;QD=12.94;ReadPosRankSum=-0.102;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AC096559.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000412294 GT:AD:DP:GQ:PL 0/1:76,70:148:99:1945,0,2157
2 12164246 rs4669797 C T 2245.48 PASS AB=0.506;AC=1;AF=0.50;AN=2;BaseQRankSum=0.365;DB;DP=166;Dels=0.0;FS=2.782;HRun=0;HaplotypeScore=0.9332;MQ=57.38;MQ0=1;MQRankSum=-1.122;QD=13.53;ReadPosRankSum=-0.888;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AC096559.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000412294 GT:AD:DP:GQ:PL 0/1:84,82:166:99:2275,0,2413
2 12164456 rs13002221 C T 600.19 PASS AB=0.389;AC=1;AF=0.50;AN=2;BaseQRankSum=1.931;DB;DP=36;Dels=0.0;FS=1.297;HRun=1;HaplotypeScore=0.0;MQ=58.43;MQ0=0;MQRankSum=0.6;QD=16.67;ReadPosRankSum=0.341;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AC096559.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000412294 GT:AD:DP:GQ:PL 0/1:14,22:36:99:630,0,427
2 12164535 rs62113770 G A 628.58 PASS AB=0.436;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.354;DB;DP=39;Dels=0.0;FS=1.257;HRun=0;HaplotypeScore=0.0;MQ=56.56;MQ0=0;MQRankSum=-0.297;QD=16.12;ReadPosRankSum=-0.977;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AC096559.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000412294 GT:AD:DP:GQ:PL 0/1:17,22:39:99:659,0,519
2 12164627 rs3890478 A G 570.64 PASS AB=0.356;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.922;DB;DP=45;Dels=0.0;FS=1.378;HRun=0;HaplotypeScore=0.5784;MQ=44.87;MQ0=4;MQRankSum=-4.554;QD=12.68;ReadPosRankSum=-0.922;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AC096559.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000412294 GT:AD:DP:GQ:PL 0/1:16,29:45:99:601,0,471
2 12164827 rs12471113 T C 510.98 PASS AB=0.459;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.434;DB;DP=37;Dels=0.0;FS=4.167;HRun=0;HaplotypeScore=0.9933;MQ=56.29;MQ0=0;MQRankSum=-0.442;QD=13.81;ReadPosRankSum=-0.99;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AC096559.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000412294 GT:AD:DP:GQ:PL 0/1:17,20:37:99:541,0,497
2 12864613 rs6432324 T A 418.88 PASS AB=0.435;AC=1;AF=0.50;AN=2;BaseQRankSum=2.698;DB;DP=23;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.713;QD=18.21;ReadPosRankSum=1.643;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRIB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000155926 GT:AD:DP:GQ:PL 0/1:10,13:23:99:449,0,341
2 15319070 rs10708316 TA T 431.78 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.867;DB;DP=27;FS=0.0;HRun=13;HaplotypeScore=80.6692;IndelType=D;MQ=61.19;MQ0=0;MQRankSum=1.445;QD=15.99;ReadPosRankSum=0.867;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBAS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281513 GT:AD:DP:GQ:PL 1/1:3,24:27:42.39:474,42,0
2 15330211 rs2302941 G A 85.17 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.29;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBAS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281513 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:117,9,0
2 15372731 rs10929352 T G 297.10 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.01;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBAS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281513 GT:AD:DP:GQ:PL 1/1:0,9:9:27.08:330,27,0
2 15378822 rs146265178 G GAATT 2348.78 PASS AC=2;AF=1.00;AN=2;DB;DP=32;FS=0.0;HRun=0;HaplotypeScore=102.8171;IndelType=I;MQ=53.81;MQ0=0;QD=73.4;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBAS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281513 GT:AD:DP:GQ:PL 1/1:3,29:32:93.32:2391,93,0
2 15415525 rs3755127 C T 338.34 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.83;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBAS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281513 GT:AD:DP:GQ:PL 1/1:0,10:10:27.09:371,27,0
2 15417280 rs67721964 ATT A 188.32 PASS AC=2;AF=1.00;AN=2;DB;DP=9;FS=0.0;HRun=10;HaplotypeScore=63.8354;IndelType=D;MQ=54.65;MQ0=0;QD=20.92;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBAS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281513 GT:AD:DP:GQ:PL 1/1:2,7:9:20.65:230,21,0
2 15427173 rs4668892 C T 1267.66 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.5;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBAS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281513 GT:AD:DP:GQ:PL 1/1:0,39:39:93.31:1301,93,0
2 15448311 rs1318102 A T 1642.07 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.734;MQ=59.62;MQ0=0;QD=33.51;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBAS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281513 GT:AD:DP:GQ:PL 1/1:0,49:49:99:1675,126,0
2 15468025 rs2042145 T C 772.93 PASS AB=0.481;AC=1;AF=0.50;AN=2;BaseQRankSum=0.753;DB;DP=54;Dels=0.0;FS=9.759;HRun=0;HaplotypeScore=0.8321;MQ=59.19;MQ0=0;MQRankSum=0.424;QD=14.31;ReadPosRankSum=0.372;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBAS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281513 GT:AD:DP:GQ:PL 0/1:26,28:54:99:803,0,832
2 15471002 rs6759219 C A 74.47 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.406;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.406;QD=12.41;ReadPosRankSum=0.406;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBAS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281513 GT:AD:DP:GQ:PL 0/1:3,3:6:99:104,0,103
2 15493881 rs2277915 A G 948.11 PASS AB=0.554;AC=1;AF=0.50;AN=2;BaseQRankSum=0.917;DB;DP=74;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.786;MQ=60.0;MQ0=0;MQRankSum=-0.417;QD=12.81;ReadPosRankSum=-1.306;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBAS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281513 GT:AD:DP:GQ:PL 0/1:41,33:74:99:978,0,1438
2 15514982 rs2049720 T C 318.55 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.85;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBAS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281513 GT:AD:DP:GQ:PL 1/1:0,10:10:27.08:352,27,0
2 15515058 rs2049719 A G 68.95 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.98;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBAS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281513 GT:AD:DP:GQ:PL 1/1:0,3:3:9.01:101,9,0
2 15519992 rs2058866 G T 401.23 PASS AB=0.35;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.555;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9979;MQ=60.0;MQ0=0;MQRankSum=0.079;QD=20.06;ReadPosRankSum=0.555;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBAS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281513 GT:AD:DP:GQ:PL 0/1:7,13:20:99:431,0,234
2 15523266 rs6756934 A T 922.81 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBAS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281513 GT:AD:DP:GQ:PL 1/1:0,25:25:72.24:956,72,0
2 15523307 rs11294341 TA T 426.94 PASS AB=0.686;AC=1;AF=0.50;AN=2;BaseQRankSum=0.605;DB;DP=48;FS=1.44;HRun=9;HaplotypeScore=201.5909;IndelType=D;MQ=59.26;MQ0=0;MQRankSum=1.484;QD=8.89;ReadPosRankSum=-0.781;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBAS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281513 GT:AD:DP:GQ:PL 0/1:26,22:48:99:466,0,692
2 15523549 rs3755129 T C 69.04 PASS AB=0.81;AC=1;AF=0.50;AN=2;BaseQRankSum=1.836;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.045;QD=3.29;ReadPosRankSum=0.761;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBAS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281513 GT:AD:DP:GQ:PL 0/1:17,4:21:99:99,0,568
2 15534642 rs3792578 G A 108.44 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.72;QD=18.07;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBAS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281513 GT:AD:DP:GQ:PL 0/1:2,4:6:65.82:138,0,66
2 15542159 rs6733647 A G 229.46 PASS AB=0.273;AC=1;AF=0.50;AN=2;BaseQRankSum=1.106;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=20.86;ReadPosRankSum=0.715;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBAS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281513 GT:AD:DP:GQ:PL 0/1:3,8:11:91.78:259,0,92
2 15564718 rs10929367 T C 253.95 PASS AB=0.308;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.468;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.8914;MQ=58.2;MQ0=0;MQRankSum=0.289;QD=19.53;ReadPosRankSum=-1.468;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBAS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281513 GT:AD:DP:GQ:PL 0/1:4,9:13:99:284,0,124
2 15564799 rs6748427 T C 81.02 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=0.198;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.198;QD=11.57;ReadPosRankSum=0.198;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBAS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281513 GT:AD:DP:GQ:PL 0/1:2,5:7:66.83:111,0,67
2 15601287 rs11411624 A AT 399.78 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.424;DB;DP=36;FS=2.006;HRun=1;HaplotypeScore=93.5227;IndelType=I;MQ=60.3;MQ0=0;MQRankSum=1.029;QD=11.1;ReadPosRankSum=-1.067;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBAS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281513 GT:AD:DP:GQ:PL 0/1:24,12:36:99:439,0,777
2 15601441 rs7590340 C T 993.65 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.101;DB;DP=64;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=59.64;MQ0=0;MQRankSum=-1.564;QD=15.53;ReadPosRankSum=0.06;SNPEFF_AMINO_ACID_CHANGE=L741;SNPEFF_CODON_CHANGE=ctG/ctA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_15601325_15601461;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBAS;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000281513 GT:AD:DP:GQ:PL 0/1:32,32:64:99:1024,0,1018
2 15601574 rs7590458 C T 118.72 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.098;DB;DP=10;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=-1.951;QD=11.87;ReadPosRankSum=-0.851;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBAS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281513 GT:AD:DP:GQ:PL 0/1:5,5:10:99:149,0,166
2 15607842 rs4668909 T C 267.84 PASS AB=0.605;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.018;DB;DP=38;Dels=0.0;FS=13.359;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.078;QD=7.05;ReadPosRankSum=0.517;SNPEFF_AMINO_ACID_CHANGE=K655R;SNPEFF_CODON_CHANGE=aAg/aGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_15607788_15607928;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBAS;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000281513 GT:AD:DP:GQ:PL 0/1:23,15:38:99:298,0,774
2 15608013 rs4668910 C A 69.92 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.221;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.322;QD=8.74;ReadPosRankSum=0.322;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBAS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281513 GT:AD:DP:GQ:PL 0/1:5,3:8:99:100,0,188
2 15614404 rs13014906 T C 679.99 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=0.461;DB;DP=54;Dels=0.0;FS=2.772;HRun=1;HaplotypeScore=1.2434;MQ=60.0;MQ0=0;MQRankSum=-1.645;QD=12.59;ReadPosRankSum=-1.367;SNPEFF_AMINO_ACID_CHANGE=R462;SNPEFF_CODON_CHANGE=agA/agG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_15614191_15614448;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBAS;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000281513 GT:AD:DP:GQ:PL 0/1:30,24:54:99:710,0,986
2 15615910 rs1990754 A G 717.81 PASS AB=0.362;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.557;DB;DP=47;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9332;MQ=59.51;MQ0=0;MQRankSum=1.45;QD=15.27;ReadPosRankSum=-1.14;SNPEFF_AMINO_ACID_CHANGE=S414;SNPEFF_CODON_CHANGE=tcT/tcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_15615811_15616004;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBAS;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000281513 GT:AD:DP:GQ:PL 0/1:17,30:47:99:748,0,578
2 15616013 rs1990755 C G 329.89 PASS AB=0.559;AC=1;AF=0.50;AN=2;BaseQRankSum=3.552;DB;DP=34;Dels=0.0;FS=5.403;HRun=1;HaplotypeScore=1.4105;MQ=58.63;MQ0=0;MQRankSum=0.856;QD=9.7;ReadPosRankSum=0.2;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBAS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281513 GT:AD:DP:GQ:PL 0/1:19,15:34:99:360,0,529
2 15616030 rs1990756 C T 316.81 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.157;DB;DP=30;Dels=0.0;FS=6.495;HRun=0;HaplotypeScore=0.5784;MQ=58.45;MQ0=0;MQRankSum=-2.029;QD=10.56;ReadPosRankSum=-0.546;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBAS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281513 GT:AD:DP:GQ:PL 0/1:15,15:30:99:347,0,492
2 15618339 rs1125534 G A 659.13 PASS AB=0.353;AC=1;AF=0.50;AN=2;BaseQRankSum=3.874;DB;DP=34;Dels=0.0;FS=1.63;HRun=0;HaplotypeScore=0.0;MQ=59.32;MQ0=0;MQRankSum=-2.757;QD=19.39;ReadPosRankSum=-1.027;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBAS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281513 GT:AD:DP:GQ:PL 0/1:12,22:34:99:689,0,329
2 15644401 rs2287265 C T 190.85 PASS AB=0.579;AC=1;AF=0.50;AN=2;BaseQRankSum=2.023;DB;DP=19;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.858;QD=10.04;ReadPosRankSum=0.124;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBAS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281513 GT:AD:DP:GQ:PL 0/1:11,8:19:99:221,0,392
2 15674686 rs13029846 T C 1335.78 PASS AB=0.495;AC=1;AF=0.50;AN=2;BaseQRankSum=3.561;DB;DP=101;Dels=0.0;FS=1.609;HRun=0;HaplotypeScore=1.748;MQ=59.77;MQ0=0;MQRankSum=-0.114;QD=13.23;ReadPosRankSum=-1.437;SNPEFF_AMINO_ACID_CHANGE=I243V;SNPEFF_CODON_CHANGE=Att/Gtt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_15674667_15674765;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBAS;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000281513 GT:AD:DP:GQ:PL 0/1:50,51:101:99:1366,0,1457
2 15676686 rs10208972 G A 1088.19 PASS AB=0.589;AC=1;AF=0.50;AN=2;BaseQRankSum=1.358;DB;DP=112;Dels=0.0;FS=1.798;HRun=1;HaplotypeScore=9.8792;MQ=57.48;MQ0=0;MQRankSum=0.014;QD=9.72;ReadPosRankSum=-0.794;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBAS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281513 GT:AD:DP:GQ:PL 0/1:66,46:112:99:1118,0,1772
2 15676884 rs10929374 T A 75.16 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=1.754;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.754;QD=10.74;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBAS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281513 GT:AD:DP:GQ:PL 0/1:4,3:7:99:105,0,143
2 15678368 rs7595512 C T 218.01 PASS AB=0.222;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.179;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.067;QD=24.22;ReadPosRankSum=-1.179;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBAS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281513 GT:AD:DP:GQ:PL 0/1:2,7:9:57.39:248,0,57
2 15678482 rs2380657 T C 290.65 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.813;DB;DP=16;Dels=0.0;FS=2.171;HRun=0;HaplotypeScore=0.0;MQ=60.67;MQ0=0;MQRankSum=0.705;QD=18.17;ReadPosRankSum=0.597;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBAS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281513 GT:AD:DP:GQ:PL 0/1:6,10:16:99:321,0,208
2 15678501 rs66736557 GA G 119.65 PASS AB=0.611;AC=1;AF=0.50;AN=2;BaseQRankSum=2.52;DB;DP=11;FS=2.398;HRun=9;HaplotypeScore=53.3601;IndelType=D;MQ=60.98;MQ0=0;MQRankSum=-0.278;QD=10.88;ReadPosRankSum=0.597;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBAS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281513 GT:AD:DP:GQ:PL 0/1:4,7:11:99:159,0,105
2 15679609 rs2058868 A T 172.21 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.517;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.05;MQ0=0;MQRankSum=0.259;QD=14.35;ReadPosRankSum=-0.869;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBAS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281513 GT:AD:DP:GQ:PL 0/1:6,6:12:99:202,0,208
2 15694164 rs34789730 T TA 527.90 PASS AB=0.594;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.464;DB;DP=19;FS=1.808;HRun=1;HaplotypeScore=38.9657;IndelType=I;MQ=58.78;MQ0=0;MQRankSum=-0.219;QD=27.78;ReadPosRankSum=0.658;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBAS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281513 GT:AD:DP:GQ:PL 0/1:6,13:19:99:567,0,191
2 15735419 rs2302928 G A 184.21 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.633;DB;DP=10;Dels=0.0;FS=3.979;HRun=2;HaplotypeScore=0.0;MQ=57.66;MQ0=0;MQRankSum=1.036;QD=18.42;ReadPosRankSum=-0.365;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DDX1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000434671 GT:AD:DP:GQ:PL 0/1:4,6:10:99:214,0,129
2 15735520 rs140126421 G A 178.80 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=1.589;DB;DP=8;Dels=0.0;FS=6.021;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.572;QD=22.35;ReadPosRankSum=1.067;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DDX1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000434671 GT:AD:DP:GQ:PL 0/1:2,6:8:32.18:209,0,32
2 15737265 rs3815688 A G 31.66 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=15.83;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DDX1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000434671 GT:AD:DP:GQ:PL 1/1:0,2:2:5.99:63,6,0
2 15737698 rs2302932 G A 188.23 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.74;DB;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.717;QD=8.56;ReadPosRankSum=0.171;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DDX1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000434671 GT:AD:DP:GQ:PL 0/1:14,8:22:99:218,0,517
2 15744484 rs68057370 CT C 270.77 PASS AB=0.725;AC=1;AF=0.50;AN=2;BaseQRankSum=3.34;DB;DP=29;FS=0.0;HRun=4;HaplotypeScore=74.7485;IndelType=D;MQ=59.78;MQ0=0;MQRankSum=-0.941;QD=9.34;ReadPosRankSum=0.564;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DDX1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233084 GT:AD:DP:GQ:PL 0/1:18,11:29:99:310,0,612
2 15745839 rs7575749 A G 37.35 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=45.96;MQ0=0;MQRankSum=0.736;QD=12.45;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DDX1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233084 GT:AD:DP:GQ:PL 0/1:1,2:3:30.98:67,0,31
2 15746596 rs35352575 G T 87.78 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DDX1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233084 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:120,9,0
2 15747393 rs10929378 C T 625.08 PASS AB=0.576;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.787;DB;DP=60;Dels=0.0;FS=4.136;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=-1.741;QD=10.42;ReadPosRankSum=-0.882;SNPEFF_AMINO_ACID_CHANGE=N288;SNPEFF_CODON_CHANGE=aaC/aaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_15747299_15747437;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DDX1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000543614 GT:AD:DP:GQ:PL 0/1:34,25:60:99:655,0,1150
2 15768876 rs11900266 G A 383.52 PASS AB=0.606;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.866;DB;DP=33;Dels=0.0;FS=5.793;HRun=0;HaplotypeScore=0.9332;MQ=59.3;MQ0=0;MQRankSum=-1.05;QD=11.62;ReadPosRankSum=1.603;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DDX1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470674 GT:AD:DP:GQ:PL 0/1:20,13:33:99:414,0,622
2 15768981 rs62122280 C G 706.37 PASS AB=0.436;AC=1;AF=0.50;AN=2;BaseQRankSum=1.345;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.81;MQ0=0;MQRankSum=-1.402;QD=18.11;ReadPosRankSum=1.827;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DDX1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470674 GT:AD:DP:GQ:PL 0/1:17,22:39:99:736,0,522
2 16734284 rs12997119 T C 672.19 PASS AB=0.432;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.232;DB;DP=44;Dels=0.0;FS=9.84;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.161;QD=15.28;ReadPosRankSum=0.379;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM49A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355549 GT:AD:DP:GQ:PL 0/1:19,25:44:99:702,0,585
2 16743453 rs6751062 A C 85.56 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.983;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.922;QD=5.35;ReadPosRankSum=-1.139;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM49A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000445605 GT:AD:DP:GQ:PL 0/1:10,6:16:99:116,0,344
2 16746897 rs62122698 C G 578.26 PASS AB=0.627;AC=1;AF=0.50;AN=2;BaseQRankSum=3.844;DB;DP=59;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.82;MQ0=0;MQRankSum=-1.106;QD=9.8;ReadPosRankSum=-0.238;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM49A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355549 GT:AD:DP:GQ:PL 0/1:37,22:59:99:608,0,1029
2 17023338 rs57513170 GCACA G 702.78 PASS AB=0.673;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.086;DB;DP=70;FS=3.01;HRun=0;HaplotypeScore=438.6488;IndelType=D;MQ=58.61;MQ0=0;MQRankSum=1.091;QD=10.04;ReadPosRankSum=-1.316;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AC008069.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401374 GT:AD:DP:GQ:PL 0/1:36,19:70:99:742,0,129
2 17696573 rs834514 C T 773.34 PASS AB=0.611;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.15;DB;DP=73;Dels=0.0;FS=0.966;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=0.657;QD=10.59;ReadPosRankSum=-1.617;SNPEFF_AMINO_ACID_CHANGE=G1037D;SNPEFF_CODON_CHANGE=gGt/gAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_17696436_17699706;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RAD51AP2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000399080 GT:AD:DP:GQ:PL 0/1:44,28:73:99:803,0,1475
2 17698678 rs665312 A G 1142.56 PASS AB=0.493;AC=1;AF=0.50;AN=2;BaseQRankSum=3.715;DB;DP=70;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9789;MQ=59.73;MQ0=0;MQRankSum=-0.402;QD=16.32;ReadPosRankSum=0.138;SNPEFF_AMINO_ACID_CHANGE=S335;SNPEFF_CODON_CHANGE=agT/agC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_17696436_17699706;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RAD51AP2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000399080 GT:AD:DP:GQ:PL 0/1:34,35:70:99:1173,0,1030
2 17773524 rs2680827 G A 665.97 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.345;DB;DP=48;Dels=0.0;FS=15.349;HRun=0;HaplotypeScore=1.3123;MQ=59.03;MQ0=0;MQRankSum=0.491;QD=13.87;ReadPosRankSum=-0.408;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VSNL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295156 GT:AD:DP:GQ:PL 0/1:28,20:48:99:696,0,747
2 17846592 rs2710674 A T 630.55 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=39.41;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMC6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000381272 GT:AD:DP:GQ:PL 1/1:0,16:16:48.16:664,48,0
2 17864680 rs2433295 A G 37.27 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=12.42;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMC6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000351948 GT:AD:DP:GQ:PL 0/1:1,2:3:33.62:67,0,34
2 17884495 rs1065381 C T 530.99 PASS AB=0.574;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.195;DB;DP=47;Dels=0.0;FS=1.296;HRun=0;HaplotypeScore=0.9916;MQ=60.0;MQ0=0;MQRankSum=-1.28;QD=11.3;ReadPosRankSum=0.247;SNPEFF_AMINO_ACID_CHANGE=A691T;SNPEFF_CODON_CHANGE=Gcc/Acc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_17884424_17884559;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMC6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000351948 GT:AD:DP:GQ:PL 0/1:27,20:47:99:561,0,877
2 17888457 rs6734462 G A 679.68 PASS AB=0.233;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.343;DB;DP=30;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.226;QD=22.66;ReadPosRankSum=1.912;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMC6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000430591 GT:AD:DP:GQ:PL 0/1:7,23:30:99:710,0,208
2 17889705 rs9306855 A G 70.65 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9578;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=14.13;ReadPosRankSum=0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMC6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000351948 GT:AD:DP:GQ:PL 0/1:2,3:5:61.07:101,0,61
2 17897488 rs35195207 T C 1090.18 PASS AB=0.451;AC=1;AF=0.50;AN=2;BaseQRankSum=0.609;DB;DP=72;Dels=0.0;FS=2.238;HRun=2;HaplotypeScore=3.4518;MQ=59.03;MQ0=0;MQRankSum=-0.127;QD=15.14;ReadPosRankSum=-0.549;SNPEFF_AMINO_ACID_CHANGE=R464G;SNPEFF_CODON_CHANGE=Agg/Ggg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_17897353_17897531;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMC6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000351948 GT:AD:DP:GQ:PL 0/1:32,39:72:99:1120,0,962
2 17898326 rs12469221 C T 350.98 PASS AB=0.622;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.427;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9979;MQ=60.0;MQ0=0;MQRankSum=0.705;QD=9.49;ReadPosRankSum=0.391;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMC6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000351948 GT:AD:DP:GQ:PL 0/1:23,14:37:99:381,0,804
2 17899584 rs9679094 T G 103.31 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=0.55;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.754;QD=14.76;ReadPosRankSum=0.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMC6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000351948 GT:AD:DP:GQ:PL 0/1:3,4:7:99:133,0,105
2 17913266 rs2052746 A C 93.49 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.16;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMC6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000351948 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:126,9,0
2 17941423 rs2555072 T G 340.32 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=3.198;DB;DP=22;Dels=0.0;FS=10.16;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=2.275;QD=15.47;ReadPosRankSum=1.088;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GEN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317402 GT:AD:DP:GQ:PL 0/1:10,12:22:99:370,0,340
2 17942775 rs1812152 T A 375.19 PASS AB=0.629;AC=1;AF=0.50;AN=2;BaseQRankSum=0.461;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=-0.017;QD=10.72;ReadPosRankSum=-1.28;SNPEFF_AMINO_ACID_CHANGE=S92T;SNPEFF_CODON_CHANGE=Tct/Act;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_17942663_17942849;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GEN1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000317402 GT:AD:DP:GQ:PL 0/1:22,13:35:99:405,0,735
2 17943015 rs2615047 T C 37.41 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.71;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GEN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000532257 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:69,6,0
2 17954003 rs148607792 G A 415.27 PASS AB=0.559;AC=1;AF=0.50;AN=2;BaseQRankSum=0.139;DB;DP=34;Dels=0.0;FS=1.441;HRun=0;HaplotypeScore=0.5784;MQ=59.32;MQ0=0;MQRankSum=0.035;QD=12.21;ReadPosRankSum=0.277;SNPEFF_AMINO_ACID_CHANGE=R302H;SNPEFF_CODON_CHANGE=cGt/cAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_17953901_17954051;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GEN1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000317402 GT:AD:DP:GQ:PL 0/1:19,15:34:99:445,0,629
2 17954027 rs300175 G A 1092.03 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.3;MQ0=0;QD=33.09;SNPEFF_AMINO_ACID_CHANGE=S310N;SNPEFF_CODON_CHANGE=aGt/aAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_17953901_17954051;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GEN1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000317402 GT:AD:DP:GQ:PL 1/1:0,33:33:84.26:1125,84,0
2 17954140 rs300176 A G 33.72 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=7;Dels=0.0;FS=3.31;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.72;QD=4.82;ReadPosRankSum=1.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GEN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317402 GT:AD:DP:GQ:PL 0/1:4,3:7:63.71:64,0,144
2 17954421 rs300177 C G 615.49 PASS AB=0.476;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.745;DB;DP=42;Dels=0.0;FS=4.558;HRun=0;HaplotypeScore=2.5525;MQ=59.45;MQ0=0;MQRankSum=1.059;QD=14.65;ReadPosRankSum=0.824;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GEN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317402 GT:AD:DP:GQ:PL 0/1:20,22:42:99:645,0,605
2 17959099 rs2615049 T G 184.17 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.365;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=18.42;ReadPosRankSum=1.036;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GEN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000534451 GT:AD:DP:GQ:PL 0/1:4,6:10:99:214,0,130
2 17959420 rs10535305 TAC T 158.61 PASS AB=0.773;AC=1;AF=0.50;AN=2;BaseQRankSum=1.67;DB;DP=17;FS=0.0;HRun=0;HaplotypeScore=129.543;IndelType=D;MQ=52.81;MQ0=0;MQRankSum=-0.663;QD=9.33;ReadPosRankSum=0.068;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GEN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000534451 GT:AD:DP:GQ:PL 0/1:12,5:17:99:198,0,221
2 17959443 rs71402623 A G 174.93 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.289;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=44.62;MQ0=0;MQRankSum=-1.932;QD=14.58;ReadPosRankSum=-0.929;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GEN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000534451 GT:AD:DP:GQ:PL 0/1:4,8:12:99:205,0,131
2 17959464 rs10535307 CAT C 225.08 PASS AB=0.611;AC=1;AF=0.50;AN=2;BaseQRankSum=2.166;DB;DP=11;FS=0.0;HRun=0;HaplotypeScore=112.6398;IndelType=D;MQ=42.94;MQ0=0;MQRankSum=-2.166;QD=20.46;ReadPosRankSum=-0.296;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GEN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000534451 GT:AD:DP:GQ:PL 0/1:4,7:11:99:264,0,132
2 17962450 rs300168 A G 597.46 PASS AB=0.512;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.039;DB;DP=41;Dels=0.0;FS=4.561;HRun=1;HaplotypeScore=0.0;MQ=59.44;MQ0=0;MQRankSum=-1.369;QD=14.57;ReadPosRankSum=0.196;SNPEFF_AMINO_ACID_CHANGE=E294;SNPEFF_CODON_CHANGE=gaA/gaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_17961888_17962993;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GEN1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000536097 GT:AD:DP:GQ:PL 0/1:21,20:41:99:627,0,679
2 17962518 rs300169 C T 1116.04 PASS AB=0.414;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.521;DB;DP=58;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9856;MQ=59.2;MQ0=0;MQRankSum=1.407;QD=19.24;ReadPosRankSum=-1.716;SNPEFF_AMINO_ACID_CHANGE=T317I;SNPEFF_CODON_CHANGE=aCa/aTa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_17961888_17962993;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GEN1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000536097 GT:AD:DP:GQ:PL 0/1:24,34:58:99:1146,0,740
2 17998025 rs34069439 A T 879.55 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.37;MQ0=0;QD=28.37;SNPEFF_AMINO_ACID_CHANGE=E80D;SNPEFF_CODON_CHANGE=gaA/gaT;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_17997763_17998368;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MSGN1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000281047 GT:AD:DP:GQ:PL 1/1:0,30:31:72.21:913,72,0
2 17998095 rs35858730 C T 721.26 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=52.13;MQ0=0;QD=28.85;SNPEFF_AMINO_ACID_CHANGE=H104Y;SNPEFF_CODON_CHANGE=Cac/Tac;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_17997763_17998368;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MSGN1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000281047 GT:AD:DP:GQ:PL 1/1:0,25:25:60.18:754,60,0
2 17998331 rs13001625 T C 1317.51 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=59.41;MQ0=0;QD=33.78;SNPEFF_AMINO_ACID_CHANGE=L182;SNPEFF_CODON_CHANGE=ctT/ctC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_17997763_17998368;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MSGN1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000281047 GT:AD:DP:GQ:PL 1/1:0,39:39:99:1351,102,0
2 18112473 rs4240213 G A 2752.95 PASS AC=2;AF=1.00;AN=2;DB;DP=73;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.68;MQ0=0;QD=37.71;SNPEFF_AMINO_ACID_CHANGE=E66;SNPEFF_CODON_CHANGE=gaG/gaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_18112217_18114228;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNS3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000304101 GT:AD:DP:GQ:PL 1/1:0,73:73:99:2786,211,0
2 18757501 rs3902946 G C 895.72 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.905;DB;DP=60;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.6651;MQ=59.23;MQ0=0;MQRankSum=0.599;QD=14.93;ReadPosRankSum=0.214;SNPEFF_AMINO_ACID_CHANGE=L426;SNPEFF_CODON_CHANGE=ctC/ctG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_18757450_18757634;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NT5C1B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000304081 GT:AD:DP:GQ:PL 0/1:30,30:60:99:926,0,826
2 18765728 rs35590292 A G 112.13 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DB;DP=5;Dels=0.0;FS=6.99;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.731;QD=22.43;ReadPosRankSum=0.731;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NT5C1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000416783 GT:AD:DP:GQ:PL 0/1:1,4:5:26.71:142,0,27
2 18768850 rs16985306 A G 714.82 PASS AB=0.594;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.115;DB;DP=64;Dels=0.0;FS=2.327;HRun=2;HaplotypeScore=0.0;MQ=59.64;MQ0=0;MQRankSum=0.373;QD=11.17;ReadPosRankSum=1.995;SNPEFF_AMINO_ACID_CHANGE=P13;SNPEFF_CODON_CHANGE=ccT/ccC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_18768769_18768858;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NT5C1B-RDH14;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000444297 GT:AD:DP:GQ:PL 0/1:38,26:64:99:745,0,1098
2 18770540 rs6720633 G C 202.51 PASS AB=0.143;AC=1;AF=0.50;AN=2;BaseQRankSum=0.742;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.28;MQ0=0;MQRankSum=0.742;QD=28.93;ReadPosRankSum=0.742;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NT5C1B-RDH14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000444297 GT:AD:DP:GQ:PL 0/1:1,6:7:18.24:232,0,18
2 20096936 rs7563410 C A 314.34 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.102;DB;DP=30;Dels=0.0;FS=1.862;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.185;QD=10.48;ReadPosRankSum=-0.686;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC32;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000431392 GT:AD:DP:GQ:PL 0/1:16,14:30:99:344,0,508
2 20097874 rs12328613 T C 661.16 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.78;MQ0=0;QD=34.8;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC32;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000333610 GT:AD:DP:GQ:PL 1/1:0,19:19:51.17:694,51,0
2 20101363 rs7584726 G A 485.59 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC32;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000333610 GT:AD:DP:GQ:PL 1/1:0,15:15:39.12:519,39,0
2 20101487 rs2304589 G A 1110.40 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.66;SNPEFF_AMINO_ACID_CHANGE=S43;SNPEFF_CODON_CHANGE=tcC/tcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_20101467_20101747;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC32;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000333610 GT:AD:DP:GQ:PL 1/1:0,34:34:87.28:1143,87,0
2 20101717 rs2304588 A G 253.96 PASS AB=0.591;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.135;DB;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.067;QD=11.54;ReadPosRankSum=0.534;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC32;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000431392 GT:AD:DP:GQ:PL 0/1:13,9:22:99:284,0,441
2 20101832 rs2278528 C G 128.97 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.24;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC32;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000333610 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:161,12,0
2 20130145 rs28502265 T G 2215.18 PASS AB=0.549;AC=1;AF=0.50;AN=2;BaseQRankSum=3.363;DB;DP=185;Dels=0.0;FS=4.431;HRun=2;HaplotypeScore=4.365;MQ=60.0;MQ0=0;MQRankSum=0.216;QD=11.97;ReadPosRankSum=0.398;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR35;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000453014 GT:AD:DP:GQ:PL 0/1:101,83:185:99:2245,0,2936
2 20131184 rs1191779 C A 1906.47 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=2.7051;MQ=59.25;MQ0=0;QD=30.75;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR35;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000453014 GT:AD:DP:GQ:PL 1/1:0,62:62:99:1939,144,0
2 20133346 rs2293670 C T 109.33 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.45;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9999;MQ=60.0;MQ0=0;MQRankSum=0.103;QD=9.94;ReadPosRankSum=0.336;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR35;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000453014 GT:AD:DP:GQ:PL 0/1:5,5:11:99:139,0,143
2 20135283 rs6741091 T C 1948.21 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.9997;MQ=60.0;MQ0=0;QD=30.44;SNPEFF_AMINO_ACID_CHANGE=E378;SNPEFF_CODON_CHANGE=gaA/gaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_20134793_20135364;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR35;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000453014 GT:AD:DP:GQ:PL 1/1:0,64:64:99:1981,156,0
2 20137864 rs2293671 T C 171.94 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.365;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9983;MQ=57.66;MQ0=0;MQRankSum=-1.447;QD=17.19;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR35;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281405 GT:AD:DP:GQ:PL 0/1:4,6:10:99:202,0,136
2 20153444 rs190463759 C G 128.88 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.532;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.143;QD=11.72;ReadPosRankSum=-0.143;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR35;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281405 GT:AD:DP:GQ:PL 0/1:6,5:11:99:159,0,210
2 20161852 rs10165128 T G 85.17 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.39;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR35;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281405 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:117,9,0
2 20166278 rs7572536 A G 35.69 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=11.9;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR35;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281405 GT:AD:DP:GQ:PL 0/1:1,2:3:33.62:66,0,34
2 20173255 rs10153717 A C 651.85 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.31;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR35;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281405 GT:AD:DP:GQ:PL 1/1:0,19:19:51.15:685,51,0
2 20189015 rs1060742 T C 938.01 PASS AB=0.527;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.244;DB;DP=74;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.9849;MQ=59.69;MQ0=0;MQRankSum=3.616;QD=12.68;ReadPosRankSum=0.964;SNPEFF_AMINO_ACID_CHANGE=Q18R;SNPEFF_CODON_CHANGE=cAg/cGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_20188926_20189043;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR35;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000281405 GT:AD:DP:GQ:PL 0/1:39,35:74:99:968,0,1252
2 20189089 rs3731663 C T 1145.32 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8321;MQ=59.25;MQ0=0;QD=36.95;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MATN3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000407540 GT:AD:DP:GQ:PL 1/1:0,31:31:87.28:1178,87,0
2 20192696 rs7569975 G A 161.43 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.91;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MATN3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421259 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:194,15,0
2 20194036 rs3820949 G C 1963.17 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.06;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MATN3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478482 GT:AD:DP:GQ:PL 1/1:0,56:56:99:1996,147,0
2 20202738 rs16987282 T C 114.38 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=1.881;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.39;MQ0=0;MQRankSum=-0.361;QD=12.71;ReadPosRankSum=0.361;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MATN3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000407540 GT:AD:DP:GQ:PL 0/1:5,4:9:99:144,0,142
2 20202930 rs77245812 G A 1442.30 PASS AB=0.47;AC=1;AF=0.50;AN=2;BaseQRankSum=4.576;DB;DP=83;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.72;MQ0=0;MQRankSum=0.118;QD=17.38;ReadPosRankSum=-0.771;SNPEFF_AMINO_ACID_CHANGE=T303M;SNPEFF_CODON_CHANGE=aCg/aTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_20202922_20203047;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MATN3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000407540 GT:AD:DP:GQ:PL 0/1:39,44:83:99:1472,0,1002
2 20205423 rs5829721 A AAAAG 847.03 PASS AC=2;AF=1.00;AN=2;DB;DP=12;FS=0.0;HRun=0;HaplotypeScore=35.1395;IndelType=I;MQ=59.89;MQ0=0;QD=70.59;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MATN3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000407540 GT:AD:DP:GQ:PL 1/1:0,11:12:36.12:889,36,0
2 20205680 rs28401180 C T 1173.06 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=52.7;MQ0=0;QD=27.93;SNPEFF_AMINO_ACID_CHANGE=E205;SNPEFF_CODON_CHANGE=gaG/gaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_20205505_20206071;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MATN3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000407540 GT:AD:DP:GQ:PL 1/1:0,42:42:96.28:1206,96,0
2 20205848 rs28598872 G A 2134.25 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.516;DB;DP=66;Dels=0.0;FS=3.748;HRun=0;HaplotypeScore=4.6112;MQ=59.43;MQ0=0;MQRankSum=-0.541;QD=32.34;ReadPosRankSum=0.433;SNPEFF_AMINO_ACID_CHANGE=A149;SNPEFF_CODON_CHANGE=gcC/gcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_20205505_20206071;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MATN3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000407540 GT:AD:DP:GQ:PL 1/1:2,64:66:99:2167,126,0
2 20233929 rs936509 C T 364.79 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.48;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAPTM4A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000175091 GT:AD:DP:GQ:PL 1/1:0,10:10:30.10:398,30,0
2 20401858 rs11350492 TA T 52.85 PASS AC=2;AF=1.00;AN=2;DB;DP=12;FS=0.0;HRun=17;HaplotypeScore=141.2607;IndelType=D;MQ=55.45;MQ0=0;QD=4.4;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SDC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000429035 GT:AD:DP:GQ:PL 1/1:0,9:12:18.42:95,18,0
2 20403794 rs10205485 A T 950.76 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.78;SNPEFF_AMINO_ACID_CHANGE=L136Q;SNPEFF_CODON_CHANGE=cTg/cAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_20403574_20404052;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SDC1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000254351 GT:AD:DP:GQ:PL 1/1:0,29:29:72.24:984,72,0
2 20404903 rs6714433 G A 41.96 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.231;QD=8.39;ReadPosRankSum=0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SDC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000254351 GT:AD:DP:GQ:PL 0/1:2,3:5:58.38:72,0,58
2 20405004 rs3732166 C T 324.31 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.194;DB;DP=27;Dels=0.0;FS=9.455;HRun=1;HaplotypeScore=0.0;MQ=59.14;MQ0=0;MQRankSum=0.675;QD=12.01;ReadPosRankSum=0.156;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SDC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000254351 GT:AD:DP:GQ:PL 0/1:15,12:27:99:354,0,430
2 20405050 rs6531225 A C 1397.12 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=59.45;MQ0=0;QD=33.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SDC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000254351 GT:AD:DP:GQ:PL 1/1:0,42:42:99:1430,111,0
2 20455176 rs111928251 GT G 69.47 PASS AB=0.708;AC=1;AF=0.50;AN=2;BaseQRankSum=0.34;DB;DP=17;FS=0.0;HRun=14;HaplotypeScore=65.4474;IndelType=D;MQ=57.17;MQ0=0;MQRankSum=-1.791;QD=4.09;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PUM2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000319801 GT:AD:DP:GQ:PL 0/1:10,7:17:99:108,0,151
2 20462852 rs3796066 G C 210.26 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.406;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.9825;MQ=60.0;MQ0=0;MQRankSum=-0.299;QD=15.02;ReadPosRankSum=0.201;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PUM2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000319801 GT:AD:DP:GQ:PL 0/1:7,7:14:99:240,0,242
2 20497603 rs74519552 A C 71.05 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.358;QD=14.21;ReadPosRankSum=0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PUM2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000319801 GT:AD:DP:GQ:PL 0/1:2,3:5:61.25:101,0,61
2 20699524 rs73227385 C T 31.33 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.231;QD=6.27;ReadPosRankSum=0.358;SNPEFF_EFFECT=INTRAGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC012065.4;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 0/1:3,2:5:61.32:61,0,105
2 20699667 rs342089 C G 701.01 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.07;MQ0=0;QD=28.04;SNPEFF_EFFECT=INTRAGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC012065.4;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 1/1:0,25:25:60.17:734,60,0
2 20699801 rs11679514 C G 72.19 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.05;MQ0=0;MQRankSum=-0.536;QD=6.02;ReadPosRankSum=-1.835;SNPEFF_EFFECT=INTRAGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC012065.4;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 0/1:8,4:12:99:102,0,250
2 20700900 rs342088 A G 500.08 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.34;SNPEFF_EFFECT=INTRAGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC012065.4;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 1/1:0,15:15:39.13:533,39,0
2 20729746 rs4666416 T C 383 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=36.21;MQ0=0;QD=29.46;SNPEFF_EFFECT=INTERGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 1/1:0,13:13:36.09:416,36,0
2 20792173 rs11096678 T A 937.58 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=59.14;MQ0=0;QD=34.73;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=HS1BP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000446825 GT:AD:DP:GQ:PL 1/1:1,26:27:72.22:971,72,0
2 20792408 rs11096679 T C 39.17 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=19.59;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=HS1BP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000446825 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:70,6,0
2 20818193 rs3732154 G A 48.72 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=16.24;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=HS1BP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000458740 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:80,6,0
2 20818286 rs3821217 A C 90.43 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.14;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=HS1BP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000458740 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:122,9,0
2 20818454 rs3732152 T A 696.20 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.65;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=HS1BP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000458740 GT:AD:DP:GQ:PL 1/1:0,22:22:54.18:729,54,0
2 20818458 rs3732151 G A 332.25 PASS AB=0.522;AC=1;AF=0.50;AN=2;BaseQRankSum=0.215;DB;DP=23;Dels=0.0;FS=1.674;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.523;QD=14.45;ReadPosRankSum=-1.139;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=HS1BP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000458740 GT:AD:DP:GQ:PL 0/1:12,11:23:99:362,0,308
2 20818517 rs3732150 T C 295.24 PASS AB=0.389;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.815;DB;DP=18;Dels=0.0;FS=2.003;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.362;QD=16.4;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=HS1BP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000458740 GT:AD:DP:GQ:PL 0/1:7,11:18:99:325,0,200
2 20822218 rs4666444 T C 408.61 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.43;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=HS1BP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304031 GT:AD:DP:GQ:PL 1/1:0,13:13:39.11:442,39,0
2 20823612 rs13030108 A G 90.54 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.63;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=HS1BP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304031 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:123,9,0
2 20823724 rs6531248 T C 417.50 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.13;MQ0=0;QD=27.83;SNPEFF_AMINO_ACID_CHANGE=P103;SNPEFF_CODON_CHANGE=ccA/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_20823656_20823791;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=HS1BP3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000458740 GT:AD:DP:GQ:PL 1/1:0,15:15:33.11:450,33,0
2 20823850 rs6733419 T C 145.92 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.24;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=HS1BP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304031 GT:AD:DP:GQ:PL 1/1:0,8:8:15.04:179,15,0
2 20823858 rs2305459 C T 138.28 PASS AB=0.125;AC=1;AF=0.50;AN=2;BaseQRankSum=0.747;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.747;QD=17.29;ReadPosRankSum=-0.747;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=HS1BP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304031 GT:AD:DP:GQ:PL 0/1:1,7:8:23.18:168,0,23
2 20824303 rs77454156 G A 49.30 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.65;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=HS1BP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304031 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
2 20824498 rs2305458 C T 346.05 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=1.826;DB;DP=27;Dels=0.0;FS=1.657;HRun=0;HaplotypeScore=0.734;MQ=59.31;MQ0=0;MQRankSum=-1.312;QD=12.82;ReadPosRankSum=-0.694;SNPEFF_AMINO_ACID_CHANGE=V260M;SNPEFF_CODON_CHANGE=Gtg/Atg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_20824492_20824652;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=HS1BP3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000304031 GT:AD:DP:GQ:PL 0/1:12,15:27:99:376,0,349
2 20824559 rs2305457 C T 500.88 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=1.767;DB;DP=36;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.48;MQ0=0;MQRankSum=-1.799;QD=13.91;ReadPosRankSum=0.43;SNPEFF_AMINO_ACID_CHANGE=E239;SNPEFF_CODON_CHANGE=gaG/gaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_20824492_20824652;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=HS1BP3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000304031 GT:AD:DP:GQ:PL 0/1:16,20:36:99:531,0,477
2 20824658 rs10199441 G A 519.73 PASS AB=0.476;AC=1;AF=0.50;AN=2;BaseQRankSum=0.9;DB;DP=42;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.734;MQ=59.45;MQ0=0;MQRankSum=-1.004;QD=12.37;ReadPosRankSum=-0.222;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=HS1BP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304031 GT:AD:DP:GQ:PL 0/1:20,22:42:99:550,0,569
2 20824691 rs17663045 C T 445.60 PASS AB=0.543;AC=1;AF=0.50;AN=2;BaseQRankSum=0.778;DB;DP=35;Dels=0.0;FS=3.217;HRun=0;HaplotypeScore=0.9469;MQ=59.34;MQ0=0;MQRankSum=-0.513;QD=12.73;ReadPosRankSum=-0.083;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=HS1BP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304031 GT:AD:DP:GQ:PL 0/1:19,16:35:99:476,0,464
2 20824708 rs10191266 T C 391.64 PASS AB=0.483;AC=1;AF=0.50;AN=2;BaseQRankSum=0.712;DB;DP=29;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=-1.172;QD=13.5;ReadPosRankSum=0.896;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=HS1BP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304031 GT:AD:DP:GQ:PL 0/1:14,15:29:99:422,0,424
2 20827414 rs10186292 C A 550.46 PASS AB=0.596;AC=1;AF=0.50;AN=2;BaseQRankSum=1.678;DB;DP=52;Dels=0.0;FS=2.6;HRun=0;HaplotypeScore=2.0463;MQ=59.56;MQ0=0;MQRankSum=-0.093;QD=10.59;ReadPosRankSum=-1.007;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=HS1BP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304031 GT:AD:DP:GQ:PL 0/1:31,21:52:99:580,0,716
2 20827425 rs6531250 A G 1432.45 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.68;MQ0=0;QD=31.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=HS1BP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304031 GT:AD:DP:GQ:PL 1/1:0,46:46:99:1465,108,0
2 20838318 rs3796064 G A 491.86 PASS AB=0.622;AC=1;AF=0.50;AN=2;BaseQRankSum=1.904;DB;DP=45;Dels=0.0;FS=2.638;HRun=3;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=-0.265;QD=10.93;ReadPosRankSum=0.434;SNPEFF_AMINO_ACID_CHANGE=F167;SNPEFF_CODON_CHANGE=ttC/ttT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_20838196_20838412;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=HS1BP3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000304031 GT:AD:DP:GQ:PL 0/1:28,17:45:99:522,0,708
2 20838560 rs7596314 A G 51 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.5;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=HS1BP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000406618 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
2 20845273 rs2304423 G A 644.38 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=HS1BP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304031 GT:AD:DP:GQ:PL 1/1:0,19:19:51.17:677,51,0
2 20870579 rs13013489 G A 68.79 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.21;MQ0=0;QD=13.76;SNPEFF_AMINO_ACID_CHANGE=R249;SNPEFF_CODON_CHANGE=cgG/cgA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_20870224_20873418;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GDF7;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000272224 GT:AD:DP:GQ:PL 1/1:1,4:5:9.01:101,9,0
2 20871190 rs4666457 A C 118.82 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=16.97;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GDF7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272224 GT:AD:DP:GQ:PL 1/1:0,7:7:12.03:151,12,0
2 20871293 rs1564696 A G 92.66 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.89;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GDF7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272224 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:125,9,0
2 20885321 rs17663874 C A 475.90 PASS AB=0.679;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.287;DB;DP=54;Dels=0.0;FS=4.289;HRun=3;HaplotypeScore=1.9158;MQ=60.0;MQ0=0;MQRankSum=-0.02;QD=8.81;ReadPosRankSum=0.605;SNPEFF_AMINO_ACID_CHANGE=L227F;SNPEFF_CODON_CHANGE=ttG/ttT;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_20885307_20885417;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf43;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000403006 GT:AD:DP:GQ:PL 0/1:36,17:54:99:506,0,1089
2 21225281 rs1042034 C T 450.24 PASS AB=0.553;AC=1;AF=0.50;AN=2;BaseQRankSum=0.939;DB;DP=38;Dels=0.0;FS=5.124;HRun=1;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=-0.587;QD=11.85;ReadPosRankSum=-0.763;SNPEFF_AMINO_ACID_CHANGE=S4338N;SNPEFF_CODON_CHANGE=aGt/aAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_21224301_21226206;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=APOB;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000233242 GT:AD:DP:GQ:PL 0/1:21,17:38:99:480,0,711
2 21225753 rs1042031 C T 910.64 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=0.374;DB;DP=54;Dels=0.0;FS=3.958;HRun=2;HaplotypeScore=0.9947;MQ=60.0;MQ0=0;MQRankSum=0.252;QD=16.86;ReadPosRankSum=0.966;SNPEFF_AMINO_ACID_CHANGE=E4181K;SNPEFF_CODON_CHANGE=Gaa/Aaa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_21224301_21226206;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=APOB;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000233242 GT:AD:DP:GQ:PL 0/1:24,30:54:99:941,0,750
2 21227383 rs1800479 C G 1254.58 PASS AB=0.48;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.005;DB;DP=75;Dels=0.0;FS=1.925;HRun=0;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=-0.005;QD=16.73;ReadPosRankSum=-0.716;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=APOB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233242 GT:AD:DP:GQ:PL 0/1:36,39:75:99:1285,0,1220
2 21231524 rs676210 G A 1312.83 PASS AB=0.522;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.506;DB;DP=93;Dels=0.0;FS=2.892;HRun=0;HaplotypeScore=1.7356;MQ=58.81;MQ0=0;MQRankSum=-0.759;QD=13.97;ReadPosRankSum=-0.219;SNPEFF_AMINO_ACID_CHANGE=P2739L;SNPEFF_CODON_CHANGE=cCa/cTa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_21227952_21235523;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=APOB;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000233242 GT:AD:DP:GQ:PL 0/1:48,44:93:99:1343,0,1494
2 21232803 rs584542 T C 2906.50 PASS AC=2;AF=1.00;AN=2;DB;DP=91;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.54;MQ0=0;QD=31.94;SNPEFF_AMINO_ACID_CHANGE=I2313V;SNPEFF_CODON_CHANGE=Att/Gtt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_21227952_21235523;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=APOB;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000233242 GT:AD:DP:GQ:PL 1/1:0,91:91:99:2939,223,0
2 21235475 rs568413 T C 1363.66 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.09;SNPEFF_AMINO_ACID_CHANGE=Y1422C;SNPEFF_CODON_CHANGE=tAt/tGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_21227952_21235523;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=APOB;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000233242 GT:AD:DP:GQ:PL 1/1:0,40:40:99:1397,102,0
2 21236482 rs488329 A G 1147.68 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.299;MQ=59.32;MQ0=0;QD=33.76;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=APOB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233242 GT:AD:DP:GQ:PL 1/1:0,34:34:90.25:1181,90,0
2 21237238 rs3749054 A T 273.75 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=0.604;DB;DP=21;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.03;QD=13.04;ReadPosRankSum=0.178;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=APOB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233242 GT:AD:DP:GQ:PL 0/1:9,12:21:99:304,0,311
2 21241744 rs12720828 C T 335.47 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=0.271;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.054;QD=20.97;ReadPosRankSum=-0.054;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=APOB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233242 GT:AD:DP:GQ:PL 0/1:6,10:16:99:365,0,203
2 21249716 rs12691202 C T 525.91 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.973;DB;DP=39;Dels=0.0;FS=2.873;HRun=0;HaplotypeScore=1.9996;MQ=59.41;MQ0=0;MQRankSum=-1.213;QD=13.48;ReadPosRankSum=0.424;SNPEFF_AMINO_ACID_CHANGE=V730I;SNPEFF_CODON_CHANGE=Gtc/Atc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_21249660_21249836;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=APOB;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000233242 GT:AD:DP:GQ:PL 0/1:21,18:39:99:556,0,675
2 21250914 rs679899 G A 3121.92 PASS AC=2;AF=1.00;AN=2;DB;DP=94;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.21;SNPEFF_AMINO_ACID_CHANGE=A618V;SNPEFF_CODON_CHANGE=gCt/gTt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_21250700_21250937;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=APOB;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000233242 GT:AD:DP:GQ:PL 1/1:0,94:94:99:3155,241,0
2 21251040 rs570877 T G 1354.96 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.74;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=APOB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233242 GT:AD:DP:GQ:PL 1/1:0,39:39:99:1388,111,0
2 21252365 rs67556837 GAGGA G 358.06 PASS AC=2;AF=1.00;AN=2;DB;DP=9;FS=0.0;HRun=0;HaplotypeScore=48.6639;IndelType=D;MQ=63.51;MQ0=0;QD=39.78;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=APOB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233242 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:400,27,0
2 21260601 rs550619 G A 127.16 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.79;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=APOB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233242 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:160,12,0
2 21263639 rs531819 T G 69.87 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.231;QD=13.97;ReadPosRankSum=0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=APOB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233242 GT:AD:DP:GQ:PL 0/1:2,3:5:53.89:100,0,54
2 21265141 rs661665 C A 282.03 PASS AB=0.474;AC=1;AF=0.50;AN=2;BaseQRankSum=0.857;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=0.367;QD=14.84;ReadPosRankSum=1.674;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=APOB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233242 GT:AD:DP:GQ:PL 0/1:9,10:19:99:312,0,319
2 21265518 rs12714264 A T 104.20 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.017;DB;DP=8;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.421;QD=13.03;ReadPosRankSum=0.421;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=APOB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233242 GT:AD:DP:GQ:PL 0/1:4,4:8:99:134,0,140
2 21360583 rs312966 A G 1088.09 PASS AB=0.536;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.827;DB;DP=84;Dels=0.0;FS=7.583;HRun=0;HaplotypeScore=0.9894;MQ=59.73;MQ0=0;MQRankSum=1.065;QD=12.95;ReadPosRankSum=-0.553;SNPEFF_AMINO_ACID_CHANGE=M82V;SNPEFF_CODON_CHANGE=Atg/Gtg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_21360337_21366144;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC010872.2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000405799 GT:AD:DP:GQ:PL 0/1:45,39:84:99:1118,0,1525
2 23907532 rs66787697 TCTC T 537.76 PASS AC=2;AF=1.00;AN=2;DB;DP=19;FS=0.0;HRun=0;HaplotypeScore=84.7848;IndelType=D;MQ=60.5;MQ0=0;QD=28.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KLHL29;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000486442 GT:AD:DP:GQ:PL 1/1:5,14:19:42.13:580,42,0
2 23919375 rs3795942 C T 599.96 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.58;SNPEFF_AMINO_ACID_CHANGE=H699;SNPEFF_CODON_CHANGE=caC/caT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_23919203_23919383;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KLHL29;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000486442 GT:AD:DP:GQ:PL 1/1:0,19:19:48.15:633,48,0
2 23925980 rs12466745 T C 89.26 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.75;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KLHL29;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000486442 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:121,9,0
2 23926506 rs77064076 C T 215.42 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.031;DB;DP=26;Dels=0.0;FS=8.587;HRun=2;HaplotypeScore=0.0;MQ=59.11;MQ0=0;MQRankSum=-0.975;QD=8.29;ReadPosRankSum=0.553;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KLHL29;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000486442 GT:AD:DP:GQ:PL 0/1:16,10:26:99:245,0,565
2 23926659 rs3795948 T C 482.22 PASS AB=0.627;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.69;DB;DP=51;Dels=0.0;FS=1.142;HRun=1;HaplotypeScore=0.9998;MQ=60.0;MQ0=0;MQRankSum=-1.027;QD=9.46;ReadPosRankSum=0.425;SNPEFF_AMINO_ACID_CHANGE=A790;SNPEFF_CODON_CHANGE=gcT/gcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_23926589_23926733;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KLHL29;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000486442 GT:AD:DP:GQ:PL 0/1:32,19:51:99:512,0,954
2 23929181 rs4233702 G T 30.90 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=7.73;ReadPosRankSum=1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KLHL29;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000486442 GT:AD:DP:GQ:PL 0/1:2,2:4:60.89:61,0,68
2 23929321 . C CCTAA 825.16 PASS AB=0.645;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.085;DP=20;FS=4.775;HRun=0;HaplotypeScore=67.8142;IndelType=I;MQ=58.22;MQ0=0;MQRankSum=-1.056;QD=41.26;ReadPosRankSum=1.31;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KLHL29;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000486442 GT:AD:DP:GQ:PL 0/1:9,11:20:99:864,0,304
2 23985329 rs2712070 A T 861.53 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=39.16;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATAD2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000238789 GT:AD:DP:GQ:PL 1/1:0,22:22:66.22:895,66,0
2 24009163 rs9636434 A G 214.20 PASS AB=0.55;AC=1;AF=0.50;AN=2;BaseQRankSum=0.76;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.684;QD=10.71;ReadPosRankSum=-0.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATAD2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000238789 GT:AD:DP:GQ:PL 0/1:11,9:20:99:244,0,395
2 24042357 rs9967832 C T 110.28 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=47.12;MQ0=0;QD=27.57;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATAD2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000458510 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:143,12,0
2 24042550 rs2879639 C T 1331.51 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=58.74;MQ0=0;QD=35.99;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATAD2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000458510 GT:AD:DP:GQ:PL 1/1:0,37:37:99:1365,99,0
2 24042842 rs193002099 T A 122.61 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.922;DB;DP=16;Dels=0.0;FS=4.26;HRun=6;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-2.224;QD=7.66;ReadPosRankSum=-1.03;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATAD2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000458510 GT:AD:DP:GQ:PL 0/1:10,6:16:99:153,0,361
2 24055058 rs10432637 G C 1118.07 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.41;MQ0=0;QD=28.67;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATAD2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000238789 GT:AD:DP:GQ:PL 1/1:0,39:39:81.27:1151,81,0
2 24057125 rs113028226 G A 69.95 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.988;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=11.66;ReadPosRankSum=0.406;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATAD2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000238789 GT:AD:DP:GQ:PL 0/1:3,3:6:99:100,0,108
2 24108652 rs7579201 T C 2681.04 PASS AC=2;AF=1.00;AN=2;DB;DP=83;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.3;SNPEFF_AMINO_ACID_CHANGE=Q207R;SNPEFF_CODON_CHANGE=cAg/cGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_24108597_24108699;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATAD2B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000238789 GT:AD:DP:GQ:PL 1/1:0,83:83:99:2714,214,0
2 24110611 rs17762465 G C 1320.43 PASS AB=0.397;AC=1;AF=0.50;AN=2;BaseQRankSum=3.168;DB;DP=63;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.7887;MQ=59.63;MQ0=0;MQRankSum=-0.794;QD=20.96;ReadPosRankSum=0.162;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATAD2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000238789 GT:AD:DP:GQ:PL 0/1:25,38:63:99:1350,0,831
2 24110657 rs75512051 A T 1884.01 PASS AB=0.475;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.263;DB;DP=123;Dels=0.0;FS=9.734;HRun=0;HaplotypeScore=3.6919;MQ=59.81;MQ0=0;MQRankSum=0.32;QD=15.32;ReadPosRankSum=-0.869;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATAD2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000238789 GT:AD:DP:GQ:PL 0/1:58,64:123:99:1914,0,1864
2 24110911 rs71402523 G GA 258.92 PASS AB=0.676;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.898;DB;DP=23;FS=4.102;HRun=10;HaplotypeScore=46.0645;IndelType=I;MQ=60.47;MQ0=0;MQRankSum=0.272;QD=11.26;ReadPosRankSum=-0.725;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATAD2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000238789 GT:AD:DP:GQ:PL 0/1:12,11:23:99:298,0,118
2 24193947 rs10166036 G A 52.28 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=UBXN2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309033 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
2 24194314 rs1533440 C T 1919.35 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=1.9966;MQ=59.24;MQ0=0;QD=31.46;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=UBXN2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309033 GT:AD:DP:GQ:PL 1/1:0,61:61:99:1952,159,0
2 24236496 rs56036119 T A 37.93 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.026;QD=9.48;ReadPosRankSum=1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MFSD2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000338315 GT:AD:DP:GQ:PL 0/1:2,2:4:65.76:68,0,66
2 24246175 rs12989842 C T 1574.64 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.99;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MFSD2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000495018 GT:AD:DP:GQ:PL 1/1:0,45:45:99:1608,120,0
2 24246679 rs925228 A G 1716.85 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=1.6006;MQ=59.57;MQ0=0;QD=31.79;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MFSD2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000338315 GT:AD:DP:GQ:PL 1/1:0,54:54:99:1750,135,0
2 24255862 rs10179142 C G 1700.41 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.43;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf44;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295148 GT:AD:DP:GQ:PL 1/1:0,47:48:99:1733,132,0
2 24307250 rs36207095 G A 57.04 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.754;DB;DP=7;Dels=0.0;FS=3.68;HRun=0;HaplotypeScore=0.0;MQ=54.75;MQ0=0;MQRankSum=-1.3;QD=8.15;ReadPosRankSum=-0.937;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC008073.6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460686 GT:AD:DP:GQ:PL 0/1:4,3:7:87.03:87,0,148
2 24307260 . A G 57.04 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=1.754;DP=7;Dels=0.0;FS=3.68;HRun=2;HaplotypeScore=0.0;MQ=54.75;MQ0=0;MQRankSum=-1.3;QD=8.15;ReadPosRankSum=-1.754;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC008073.6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460686 GT:AD:DP:GQ:PL 0/1:4,3:7:87.04:87,0,128
2 24369674 rs11693860 C T 988.48 PASS AB=0.486;AC=1;AF=0.50;AN=2;BaseQRankSum=2.721;DB;DP=70;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.4641;MQ=60.0;MQ0=0;MQRankSum=0.042;QD=14.12;ReadPosRankSum=0.955;SNPEFF_AMINO_ACID_CHANGE=N166;SNPEFF_CODON_CHANGE=aaC/aaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_24369618_24369705;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC008073.6;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000407625 GT:AD:DP:GQ:PL 0/1:34,36:70:99:1018,0,826
2 24384424 rs4665667 T C 456.53 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.795;DB;DP=60;Dels=0.0;FS=2.277;HRun=2;HaplotypeScore=0.9332;MQ=59.62;MQ0=0;MQRankSum=-0.147;QD=7.61;ReadPosRankSum=0.718;SNPEFF_AMINO_ACID_CHANGE=P245;SNPEFF_CODON_CHANGE=ccT/ccC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_24384376_24384483;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC008073.6;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000407625 GT:AD:DP:GQ:PL 0/1:36,24:60:99:487,0,1195
2 24387178 rs113322110 G GC 704.57 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.722;DB;DP=38;FS=0.0;HRun=1;HaplotypeScore=84.9808;IndelType=I;MQ=60.0;MQ0=0;MQRankSum=-0.471;QD=18.54;ReadPosRankSum=0.988;SNPEFF_EFFECT=FRAME_SHIFT;SNPEFF_EXON_ID=exon_2_24387068_24387204;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC008073.6;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000407625 GT:AD:DP:GQ:PL 0/1:19,19:38:99:744,0,590
2 24390517 rs2288072 G A 465.36 PASS AB=0.469;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.53;DB;DP=32;Dels=0.0;FS=3.192;HRun=0;HaplotypeScore=0.9832;MQ=60.0;MQ0=0;MQRankSum=0.755;QD=14.54;ReadPosRankSum=0.34;SNPEFF_AMINO_ACID_CHANGE=G318D;SNPEFF_CODON_CHANGE=gGc/gAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_24390496_24390552;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC008073.6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000407625 GT:AD:DP:GQ:PL 0/1:15,17:32:99:495,0,489
2 24398281 rs2042467 T G 94.95 PASS AB=0.737;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.083;DB;DP=19;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.6651;MQ=58.78;MQ0=0;MQRankSum=-0.324;QD=5.0;ReadPosRankSum=0.417;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=C2orf84;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295150 GT:AD:DP:GQ:PL 0/1:14,5:19:99:125,0,433
2 24398446 rs2042468 A T 339.62 PASS AB=0.552;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.066;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.46;QD=11.71;ReadPosRankSum=0.417;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=C2orf84;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295150 GT:AD:DP:GQ:PL 0/1:16,13:29:99:370,0,539
2 24398573 . G T 30.53 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.38;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.38;QD=5.09;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=C2orf84;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295150 GT:AD:DP:GQ:PL 0/1:4,2:6:60.52:61,0,148
2 24402127 rs61193015 C CAA 1606.12 PASS AB=0.684;AC=1;AF=0.50;AN=2;BaseQRankSum=-6.167;DB;DP=67;FS=0.986;HRun=3;HaplotypeScore=178.059;IndelType=I;MQ=60.62;MQ0=0;MQRankSum=0.206;QD=23.97;ReadPosRankSum=0.077;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=C2orf84;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295150 GT:AD:DP:GQ:PL 0/1:36,31:67:99:1645,0,1462
2 24432211 rs2303293 C T 74.95 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.537;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.406;QD=12.49;ReadPosRankSum=0.406;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ITSN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355123 GT:AD:DP:GQ:PL 0/1:3,3:6:85.24:105,0,85
2 24432620 rs2303294 A G 130.30 PASS AB=0.588;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.513;DB;DP=17;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.63;MQ0=0;MQRankSum=0.146;QD=7.66;ReadPosRankSum=-1.805;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ITSN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355123 GT:AD:DP:GQ:PL 0/1:10,7:17:99:160,0,354
2 24432667 rs2303295 C G 364.97 PASS AB=0.595;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.46;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.38;MQ0=0;MQRankSum=-1.38;QD=9.86;ReadPosRankSum=0.417;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ITSN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355123 GT:AD:DP:GQ:PL 0/1:22,15:37:99:395,0,763
2 24439048 rs3731625 A G 1288.08 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.025;DB;DP=78;Dels=0.0;FS=0.87;HRun=0;HaplotypeScore=0.9979;MQ=59.41;MQ0=0;MQRankSum=-1.037;QD=16.51;ReadPosRankSum=-0.055;SNPEFF_AMINO_ACID_CHANGE=I1260T;SNPEFF_CODON_CHANGE=aTt/aCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_24438918_24439101;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ITSN2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000361999 GT:AD:DP:GQ:PL 0/1:36,42:78:99:1318,0,1062
2 24439276 rs13021828 G C 100.18 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.21;MQ0=0;QD=20.04;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ITSN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000406921 GT:AD:DP:GQ:PL 1/1:1,4:5:12.02:133,12,0
2 24440997 rs2551183 A T 448.91 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.05;MQ0=0;QD=37.41;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ITSN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000406921 GT:AD:DP:GQ:PL 1/1:0,12:12:36.12:482,36,0
2 24475205 rs4450560 T C 2268.80 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.445;MQ=60.0;MQ0=0;QD=34.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ITSN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355123 GT:AD:DP:GQ:PL 1/1:0,65:66:99:2302,172,0
2 24484150 rs4665680 T C 565.57 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.77;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ITSN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355123 GT:AD:DP:GQ:PL 1/1:0,19:19:45.15:599,45,0
2 24498839 rs4411652 T G 248.21 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.46;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ITSN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355123 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:281,21,0
2 24507806 rs60485384 G A 298.87 PASS AB=0.435;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.899;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.1445;MQ=51.18;MQ0=0;MQRankSum=1.209;QD=12.45;ReadPosRankSum=1.395;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ITSN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000412011 GT:AD:DP:GQ:PL 0/1:10,13:24:99:329,0,246
2 24518796 rs4233705 C T 359.26 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.66;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ITSN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355123 GT:AD:DP:GQ:PL 1/1:0,11:11:30.08:392,30,0
2 24521493 rs7559133 C T 1898.98 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;QD=37.23;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ITSN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355123 GT:AD:DP:GQ:PL 1/1:0,51:51:99:1932,141,0
2 24521766 rs6707600 C T 967.49 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.31;MQ0=0;QD=35.83;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ITSN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355123 GT:AD:DP:GQ:PL 1/1:0,27:27:75.24:1000,75,0
2 24524958 rs7603997 C T 368.16 PASS AB=0.448;AC=1;AF=0.50;AN=2;BaseQRankSum=2.785;DB;DP=29;Dels=0.0;FS=1.637;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.074;QD=12.7;ReadPosRankSum=0.153;SNPEFF_AMINO_ACID_CHANGE=V291I;SNPEFF_CODON_CHANGE=Gtt/Att;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_24524834_24524971;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ITSN2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000355123 GT:AD:DP:GQ:PL 0/1:13,16:29:99:398,0,348
2 24550867 rs67389058 CA C 296.98 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.569;DB;DP=35;FS=0.0;HRun=14;HaplotypeScore=198.0133;IndelType=D;MQ=56.95;MQ0=0;MQRankSum=0.413;QD=8.49;ReadPosRankSum=-0.248;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ITSN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355123 GT:AD:DP:GQ:PL 1/1:8,22:35:31.63:339,32,0
2 24896389 rs4665712 T G 454.59 PASS AB=0.355;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.796;DB;DP=31;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.805;QD=14.66;ReadPosRankSum=-0.021;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NCOA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288599 GT:AD:DP:GQ:PL 0/1:11,20:31:99:485,0,365
2 24905684 rs55860996 C CA 246.12 PASS AC=2;AF=1.00;AN=2;DB;DP=6;FS=0.0;HRun=0;HaplotypeScore=10.8847;IndelType=I;MQ=61.78;MQ0=0;QD=41.02;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NCOA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288599 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:288,18,0
2 24905927 rs11125744 G C 1665.18 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.43;SNPEFF_AMINO_ACID_CHANGE=T154;SNPEFF_CODON_CHANGE=acG/acC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_24905820_24905997;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NCOA1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000288599 GT:AD:DP:GQ:PL 1/1:0,47:47:99:1698,123,0
2 24914125 rs2119120 C T 174.42 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.88;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NCOA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288599 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:207,15,0
2 24933689 rs7593430 A C 179.80 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.96;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NCOA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288599 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:213,15,0
2 24952712 . CT C 233.83 PASS AB=0.782;AC=1;AF=0.50;AN=2;BaseQRankSum=0.096;DP=79;FS=4.41;HRun=13;HaplotypeScore=518.7737;IndelType=D;MQ=52.22;MQ0=0;MQRankSum=-1.466;QD=2.96;ReadPosRankSum=1.23;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NCOA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288599 GT:AD:DP:GQ:PL 0/1:56,19:79:99:273,0,604
2 24952740 rs11439247 C CT 2197.21 PASS AC=2;AF=1.00;AN=2;DB;DP=49;FS=0.0;HRun=0;HaplotypeScore=217.8028;IndelType=I;MQ=48.29;MQ0=0;QD=44.84;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NCOA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288599 GT:AD:DP:GQ:PL 1/1:3,46:49:99:2239,141,0
2 24962137 rs10865308 C T 44.91 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=8.98;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NCOA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288599 GT:AD:DP:GQ:PL 1/1:0,5:5:8.98:77,9,0
2 24962138 rs6739575 A G 44.91 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=8.98;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NCOA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288599 GT:AD:DP:GQ:PL 1/1:0,5:5:8.98:77,9,0
2 24962252 rs3820933 G A 203.14 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.058;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.752;QD=13.54;ReadPosRankSum=0.405;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NCOA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288599 GT:AD:DP:GQ:PL 0/1:8,7:15:99:233,0,268
2 24974945 rs11125763 T G 2506.75 PASS AC=2;AF=1.00;AN=2;DB;DP=76;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.7;MQ0=0;QD=32.98;SNPEFF_AMINO_ACID_CHANGE=L1116;SNPEFF_CODON_CHANGE=ctT/ctG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_24974851_24975025;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NCOA1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000407230 GT:AD:DP:GQ:PL 1/1:0,76:76:99:2540,190,0
2 25013523 rs12471620 G C 88.55 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.383;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.365;QD=8.86;ReadPosRankSum=0.741;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTRHD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000492046 GT:AD:DP:GQ:PL 0/1:6,4:10:99:119,0,226
2 25022328 rs12475751 G C 81.84 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.731;QD=16.37;ReadPosRankSum=-0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CENPO;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260662 GT:AD:DP:GQ:PL 0/1:1,4:5:30.19:112,0,30
2 25022442 rs113446228 TA T 397.47 PASS AB=0.645;AC=1;AF=0.50;AN=2;BaseQRankSum=1.703;DB;DP=49;FS=11.421;HRun=13;HaplotypeScore=184.9908;IndelType=D;MQ=59.03;MQ0=0;MQRankSum=-0.341;QD=8.11;ReadPosRankSum=-0.243;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CENPO;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260662 GT:AD:DP:GQ:PL 0/1:21,27:49:99:436,0,239
2 25037489 rs67044003 TCA T 464.83 PASS AC=2;AF=1.00;AN=2;DB;DP=21;FS=0.0;HRun=0;HaplotypeScore=74.102;IndelType=D;MQ=59.42;MQ0=0;QD=22.13;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADCY3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260600 GT:AD:DP:GQ:PL 1/1:6,15:21:42.13:507,42,0
2 25038268 rs2082881 G A 898.38 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.27;MQ0=0;QD=33.27;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADCY3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260600 GT:AD:DP:GQ:PL 1/1:0,27:27:72.23:931,72,0
2 25039804 rs2099505 G A 811.13 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.63;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADCY3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260600 GT:AD:DP:GQ:PL 1/1:0,21:21:63.20:844,63,0
2 25040335 rs67615331 C CAAAAAAA 1303.52 PASS AC=2;AF=1.00;AN=2;DB;DP=19;FS=0.0;HRun=10;HaplotypeScore=256.7137;IndelType=I;MQ=34.64;MQ0=0;QD=68.61;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADCY3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260600 GT:AD:DP:GQ:PL 1/1:9,5:19:47.37:1346,47,0
2 25040423 rs10178420 G A 1413.88 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.64;MQ0=0;QD=33.66;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADCY3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260600 GT:AD:DP:GQ:PL 1/1:0,41:41:99:1447,111,0
2 25045340 . G C 588.98 PASS AB=0.675;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.767;DP=84;Dels=0.0;FS=2.055;HRun=0;HaplotypeScore=1.5449;MQ=58.89;MQ0=0;MQRankSum=1.431;QD=7.01;ReadPosRankSum=-1.664;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADCY3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000455323 GT:AD:DP:GQ:PL 0/1:56,27:84:99:619,0,1704
2 25046090 rs1127568 T C 305.29 PASS AB=0.476;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.528;DB;DP=21;Dels=0.0;FS=1.971;HRun=1;HaplotypeScore=0.0;MQ=58.89;MQ0=0;MQRankSum=0.951;QD=14.54;ReadPosRankSum=-0.458;SNPEFF_AMINO_ACID_CHANGE=S544;SNPEFF_CODON_CHANGE=tcA/tcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_25046078_25046224;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADCY3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000405392 GT:AD:DP:GQ:PL 0/1:10,11:21:99:335,0,352
2 25046355 rs4665273 T C 63.35 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.38;DB;DP=7;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=56.62;MQ0=0;MQRankSum=-0.72;QD=9.05;ReadPosRankSum=-0.72;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADCY3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000450524 GT:AD:DP:GQ:PL 0/1:2,5:7:67.95:93,0,68
2 25047408 rs7604576 A G 526.03 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=3.53;DB;DP=40;Dels=0.0;FS=2.673;HRun=0;HaplotypeScore=0.7887;MQ=59.13;MQ0=0;MQRankSum=0.311;QD=13.15;ReadPosRankSum=1.123;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADCY3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000450524 GT:AD:DP:GQ:PL 0/1:20,20:40:99:556,0,628
2 25048847 rs2289090 A G 56.77 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.537;DB;DP=6;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=9.46;ReadPosRankSum=-0.406;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADCY3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000450524 GT:AD:DP:GQ:PL 0/1:3,3:6:86.76:87,0,103
2 25049159 rs934611 A G 48.72 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.36;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADCY3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000450524 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:80,6,0
2 25050977 rs7566416 T C 203.78 PASS AB=0.591;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.883;DB;DP=22;Dels=0.0;FS=1.801;HRun=0;HaplotypeScore=0.0;MQ=58.95;MQ0=0;MQRankSum=-1.599;QD=9.26;ReadPosRankSum=0.107;SNPEFF_AMINO_ACID_CHANGE=E717;SNPEFF_CODON_CHANGE=gaA/gaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_25050771_25051030;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADCY3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000415879 GT:AD:DP:GQ:PL 0/1:13,9:22:99:234,0,394
2 25053410 rs12615954 C T 165.95 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.573;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-2.054;QD=18.44;ReadPosRankSum=1.683;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADCY3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000454027 GT:AD:DP:GQ:PL 0/1:3,6:9:89.23:196,0,89
2 25057298 rs2278486 C G 79.65 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.386;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9665;MQ=56.35;MQ0=0;MQRankSum=0.546;QD=6.13;ReadPosRankSum=-1.818;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADCY3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427849 GT:AD:DP:GQ:PL 0/1:6,7:13:99:110,0,102
2 25062634 rs11125810 A G 276.82 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.68;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADCY3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000433852 GT:AD:DP:GQ:PL 1/1:0,10:10:24.08:310,24,0
2 25064079 rs2241757 G A 73.19 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.537;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.537;QD=12.2;ReadPosRankSum=0.406;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADCY3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000433852 GT:AD:DP:GQ:PL 0/1:3,3:6:99:103,0,108
2 25064193 rs2241759 G A 136.72 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.676;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.336;QD=13.67;ReadPosRankSum=-1.453;SNPEFF_AMINO_ACID_CHANGE=P133;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_25064128_25064255;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADCY3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000427849 GT:AD:DP:GQ:PL 0/1:5,5:10:99:167,0,151
2 25174007 rs1439097 G C 53.22 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.61;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAJC27;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000494239 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
2 25174012 rs1439096 A C 52.75 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.37;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAJC27;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000494239 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
2 25179893 rs77483992 C T 809.56 PASS AB=0.342;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.292;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.41;MQ0=0;MQRankSum=-0.031;QD=20.76;ReadPosRankSum=-0.708;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAJC27;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468467 GT:AD:DP:GQ:PL 0/1:13,25:39:99:840,0,413
2 25194741 rs7593864 G A 237.47 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;QD=23.75;SNPEFF_AMINO_ACID_CHANGE=P11;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_25194687_25194963;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAJC27;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000264711 GT:AD:DP:GQ:PL 1/1:0,10:10:21.07:270,21,0
2 25314186 rs2918630 T C 55.76 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.59;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EFR3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401432 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:87,6,0
2 25344464 rs2276597 G A 486.32 PASS AB=0.32;AC=1;AF=0.50;AN=2;BaseQRankSum=2.243;DB;DP=25;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.5774;MQ=58.13;MQ0=0;MQRankSum=0.146;QD=19.45;ReadPosRankSum=-0.087;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EFR3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401432 GT:AD:DP:GQ:PL 0/1:8,17:25:99:516,0,203
2 25359254 rs10202934 C T 101.62 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.361;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.361;QD=11.29;ReadPosRankSum=0.361;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EFR3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264719 GT:AD:DP:GQ:PL 0/1:5,4:9:99:132,0,174
2 25359422 rs3731631 G A 811.42 PASS AB=0.396;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.959;DB;DP=49;Dels=0.0;FS=2.606;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.58;QD=16.56;ReadPosRankSum=0.274;SNPEFF_AMINO_ACID_CHANGE=L357;SNPEFF_CODON_CHANGE=ctG/ctA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_25359392_25359467;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EFR3B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000405108 GT:AD:DP:GQ:PL 0/1:19,29:49:99:841,0,473
2 25359453 . G A 791.03 PASS AB=0.372;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.039;DP=43;Dels=0.0;FS=7.514;HRun=0;HaplotypeScore=0.9469;MQ=60.0;MQ0=0;MQRankSum=0.635;QD=18.4;ReadPosRankSum=-0.453;SNPEFF_AMINO_ACID_CHANGE=V368I;SNPEFF_CODON_CHANGE=Gtc/Atc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_25359392_25359467;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EFR3B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000405108 GT:AD:DP:GQ:PL 0/1:16,27:43:99:821,0,481
2 25368005 rs10188516 G A 39.20 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=7.84;ReadPosRankSum=1.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EFR3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264719 GT:AD:DP:GQ:PL 0/1:3,2:5:69.20:69,0,74
2 25368030 rs10180231 T C 40.30 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=13.43;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EFR3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264719 GT:AD:DP:GQ:PL 0/1:1,2:3:32.73:70,0,33
2 25377176 rs2164808 T C 2069.30 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.4538;MQ=59.51;MQ0=0;QD=31.35;SNPEFF_AMINO_ACID_CHANGE=Y642;SNPEFF_CODON_CHANGE=taT/taC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_25377104_25377230;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EFR3B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000264719 GT:AD:DP:GQ:PL 1/1:0,66:66:99:2102,171,0
2 25377329 rs2118404 C T 268.05 PASS AB=0.412;AC=1;AF=0.50;AN=2;BaseQRankSum=3.367;DB;DP=17;Dels=0.0;FS=3.14;HRun=0;HaplotypeScore=0.0;MQ=58.63;MQ0=0;MQRankSum=-0.049;QD=15.77;ReadPosRankSum=-0.439;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EFR3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264719 GT:AD:DP:GQ:PL 0/1:7,10:17:99:298,0,203
2 25383887 rs1042571 G A 210.03 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.772;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.45;MQ0=0;MQRankSum=1.096;QD=14.0;ReadPosRankSum=0.15;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POMC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000395826 GT:AD:DP:GQ:PL 0/1:7,8:15:99:240,0,234
2 25458546 rs2304429 C T 731.47 PASS AB=0.489;AC=1;AF=0.50;AN=2;BaseQRankSum=2.796;DB;DP=45;Dels=0.0;FS=4.912;HRun=0;HaplotypeScore=0.8321;MQ=59.49;MQ0=0;MQRankSum=1.034;QD=16.25;ReadPosRankSum=0.423;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNMT3A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461228 GT:AD:DP:GQ:PL 0/1:22,23:45:99:761,0,535
2 25458853 rs79478703 A G 38.62 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.026;QD=9.65;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNMT3A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461228 GT:AD:DP:GQ:PL 0/1:2,2:4:68.61:69,0,70
2 25463483 rs2289195 G A 2004.08 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.673;DB;DP=61;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.841;MQ=59.16;MQ0=0;MQRankSum=1.673;QD=32.85;ReadPosRankSum=-0.478;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNMT3A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474807 GT:AD:DP:GQ:PL 1/1:1,60:61:99:2037,160,0
2 25466888 rs2289093 G T 129.93 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.48;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNMT3A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470983 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:162,12,0
2 25469502 rs2276598 C T 702.23 PASS AB=0.432;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.895;DB;DP=44;Dels=0.0;FS=3.014;HRun=0;HaplotypeScore=0.8321;MQ=59.48;MQ0=0;MQRankSum=0.306;QD=15.96;ReadPosRankSum=-0.721;SNPEFF_AMINO_ACID_CHANGE=L199;SNPEFF_CODON_CHANGE=ctG/ctA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_25469489_25469645;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNMT3A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000402667 GT:AD:DP:GQ:PL 0/1:19,25:44:99:732,0,623
2 25469913 rs2276599 C T 663.02 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.89;MQ0=0;QD=31.57;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNMT3A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000496570 GT:AD:DP:GQ:PL 1/1:0,21:21:54.16:696,54,0
2 25472784 rs11681447 C T 130.52 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.63;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNMT3A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264709 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:163,12,0
2 25602142 rs2304426 G A 1114.13 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.734;MQ=60.0;MQ0=0;QD=34.82;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DTNB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000489949 GT:AD:DP:GQ:PL 1/1:0,32:32:90.24:1147,90,0
2 25602310 rs2304427 C T 217.03 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=3.016;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.656;QD=16.69;ReadPosRankSum=-0.555;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DTNB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000489949 GT:AD:DP:GQ:PL 0/1:6,7:13:99:247,0,156
2 25610287 rs66917623 G T 198.62 PASS AB=0.579;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.543;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.362;QD=10.45;ReadPosRankSum=0.453;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DTNB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481841 GT:AD:DP:GQ:PL 0/1:11,8:19:99:229,0,371
2 25650631 rs34648410 A G 64.80 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.248;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.001;QD=7.2;ReadPosRankSum=1.203;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DTNB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288642 GT:AD:DP:GQ:PL 0/1:6,3:9:94.79:95,0,214
2 25655772 rs7583475 T C 367.82 PASS AB=0.385;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.524;DB;DP=26;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.11;MQ0=0;MQRankSum=-0.194;QD=14.15;ReadPosRankSum=-1.248;SNPEFF_AMINO_ACID_CHANGE=A276;SNPEFF_CODON_CHANGE=gcA/gcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_25655755_25655868;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DTNB;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000545439 GT:AD:DP:GQ:PL 0/1:10,16:26:99:398,0,318
2 25656880 rs1395949 C G 3667.75 HaplotypeScoreFilter13 AC=2;AF=1.00;AN=2;DB;DP=121;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=53.8668;MQ=58.85;MQ0=0;QD=30.31;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DTNB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288642 GT:AD:DP:GQ:PL 1/1:0,120:121:99:3668,286,0
2 25656889 rs11451153 G GT 945.46 PASS AB=0.722;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.102;DB;DP=109;FS=2.548;HRun=11;HaplotypeScore=690.1437;IndelType=I;MQ=58.72;MQ0=0;MQRankSum=1.365;QD=8.67;ReadPosRankSum=-1.284;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DTNB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288642 GT:AD:DP:GQ:PL 0/1:62,40:109:99:984,0,730
2 25705428 rs6751254 T C 85.86 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.62;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DTNB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288642 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:118,9,0
2 25754235 rs539879 T C 752.24 PASS AB=0.544;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.617;DB;DP=57;Dels=0.0;FS=2.236;HRun=2;HaplotypeScore=0.6651;MQ=59.6;MQ0=0;MQRankSum=-0.809;QD=13.2;ReadPosRankSum=1.162;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DTNB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288642 GT:AD:DP:GQ:PL 0/1:31,26:57:99:782,0,1033
2 25875401 rs33949722 TA T 237.95 PASS AB=0.685;AC=1;AF=0.50;AN=2;BaseQRankSum=0.554;DB;DP=74;FS=0.0;HRun=16;HaplotypeScore=553.736;IndelType=D;MQ=51.99;MQ0=0;MQRankSum=2.277;QD=3.22;ReadPosRankSum=1.588;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DTNB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288642 GT:AD:DP:GQ:PL 0/1:36,31:74:99:277,0,281
2 25973309 rs10178552 C T 2882.24 PASS AC=2;AF=1.00;AN=2;DB;DP=81;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9578;MQ=59.43;MQ0=0;QD=35.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASXL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272341 GT:AD:DP:GQ:PL 1/1:0,81:81:99:2915,223,0
2 25973405 rs62130128 G A 714.48 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.78;MQ0=0;QD=37.6;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASXL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272341 GT:AD:DP:GQ:PL 1/1:0,19:19:54.18:747,54,0
2 25976775 rs10171348 C T 51.64 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.21;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASXL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272341 GT:AD:DP:GQ:PL 1/1:0,2:3:6.02:83,6,0
2 25982692 rs74867973 T C 126.53 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.63;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASXL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272341 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:159,12,0
2 25990640 rs17680828 T C 2933.67 PASS AC=2;AF=1.00;AN=2;DB;DP=82;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.72;MQ0=0;QD=35.78;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASXL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000497092 GT:AD:DP:GQ:PL 1/1:0,82:82:99:2967,223,0
2 25994412 rs71399322 A AG 2676.25 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.274;DB;DP=72;FS=0.0;HRun=3;HaplotypeScore=161.5842;IndelType=I;MQ=61.01;MQ0=0;MQRankSum=0.917;QD=37.17;ReadPosRankSum=1.274;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASXL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272341 GT:AD:DP:GQ:PL 1/1:5,67:72:99:2718,171,0
2 26029407 rs10207926 A C 84.39 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.13;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASXL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272341 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:116,9,0
2 26068509 rs6741640 C T 213.70 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.62;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASXL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272341 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:247,18,0
2 26082212 rs13425195 T C 866.37 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.13;MQ0=0;QD=34.65;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASXL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272341 GT:AD:DP:GQ:PL 1/1:0,25:25:66.21:899,66,0
2 26174882 rs41285967 T C 117.07 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.717;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9832;MQ=59.01;MQ0=0;MQRankSum=-0.387;QD=10.64;ReadPosRankSum=-0.387;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF3C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475453 GT:AD:DP:GQ:PL 0/1:5,6:11:99:147,0,126
2 26177198 rs17047211 A G 472.08 PASS AB=0.529;AC=1;AF=0.50;AN=2;BaseQRankSum=1.225;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.673;QD=13.88;ReadPosRankSum=-0.293;SNPEFF_AMINO_ACID_CHANGE=Y415;SNPEFF_CODON_CHANGE=taT/taC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_26177136_26177254;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF3C;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000542511 GT:AD:DP:GQ:PL 0/1:18,16:34:99:502,0,597
2 26203678 rs1465878 T C 1294.36 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.193;DB;DP=48;Dels=0.0;FS=3.31;HRun=2;HaplotypeScore=0.0;MQ=59.03;MQ0=0;MQRankSum=1.655;QD=26.97;ReadPosRankSum=0.115;SNPEFF_AMINO_ACID_CHANGE=Q176R;SNPEFF_CODON_CHANGE=cAg/cGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_26203242_26204352;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF3C;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000542511 GT:AD:DP:GQ:PL 1/1:1,47:48:74.90:1327,75,0
2 26204640 rs6721440 G A 1472.20 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.081;DB;DP=46;Dels=0.0;FS=2.675;HRun=0;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=0.189;QD=32.0;ReadPosRankSum=1.481;SNPEFF_AMINO_ACID_CHANGE=A49;SNPEFF_CODON_CHANGE=gcC/gcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_26203242_26205366;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF3C;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000264712 GT:AD:DP:GQ:PL 1/1:2,44:46:72.61:1505,73,0
2 26251361 rs4665809 A G 396.15 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.05;MQ0=0;QD=24.76;SNPEFF_EFFECT=INTERGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 1/1:0,16:16:33.10:429,33,0
2 26321526 rs11678157 T C 575.04 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.34;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=RAB10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264710 GT:AD:DP:GQ:PL 1/1:0,15:15:45.15:608,45,0
2 26350136 rs2289022 G T 1603.60 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.03;MQ0=0;QD=33.41;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=RAB10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264710 GT:AD:DP:GQ:PL 1/1:0,48:48:99:1637,123,0
2 26357748 rs2243834 G T 452.85 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=RAB10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264710 GT:AD:DP:GQ:PL 1/1:0,16:16:36.10:486,36,0
2 26399214 rs4665830 G A 656.16 PASS AB=0.51;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.564;DB;DP=49;Dels=0.0;FS=1.162;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.032;QD=13.39;ReadPosRankSum=0.521;SNPEFF_AMINO_ACID_CHANGE=G38;SNPEFF_CODON_CHANGE=ggG/ggA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_26399213_26399353;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM59B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000401533 GT:AD:DP:GQ:PL 0/1:25,24:49:99:686,0,642
2 26399481 rs11675057 C G 177.69 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=0.143;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.387;QD=16.15;ReadPosRankSum=0.717;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM59B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401533 GT:AD:DP:GQ:PL 0/1:5,6:11:99:208,0,168
2 26405985 rs10779956 A G 46.37 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=11.59;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM59B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401533 GT:AD:DP:GQ:PL 0/1:1,3:4:31.62:76,0,32
2 26409950 rs892447 G A 65.27 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.988;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=10.88;ReadPosRankSum=0.406;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HADHA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000380649 GT:AD:DP:GQ:PL 0/1:3,3:6:84.88:95,0,85
2 26413917 rs7260 C T 129.70 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.04;MQ0=0;QD=21.62;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM59B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401533 GT:AD:DP:GQ:PL 1/1:0,6:6:12.04:162,12,0
2 26415088 rs34898931 TA T 85.86 QDFilter2 AB=0.691;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.006;DB;DP=47;FS=0.0;HRun=15;HaplotypeScore=387.7585;IndelType=D;MQ=54.61;MQ0=0;MQRankSum=0.243;QD=1.83;ReadPosRankSum=1.179;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM59B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401533 GT:AD:DP:GQ:PL 0/1:22,14:47:99:125,0,366
2 26415429 rs5001914 A G 169.03 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=2.072;DB;DP=10;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.365;QD=16.9;ReadPosRankSum=-0.365;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM59B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401533 GT:AD:DP:GQ:PL 0/1:4,6:10:99:199,0,130
2 26416301 rs7582341 A G 139.89 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.676;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.336;QD=13.99;ReadPosRankSum=-0.851;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM59B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401533 GT:AD:DP:GQ:PL 0/1:5,5:10:99:170,0,171
2 26417533 rs1865324 C A 464.70 PASS AB=0.483;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.64;DB;DP=29;Dels=0.0;FS=6.68;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=-0.327;QD=16.02;ReadPosRankSum=-0.371;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HADHA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000380649 GT:AD:DP:GQ:PL 0/1:14,15:29:99:495,0,475
2 26420708 rs13387855 T G 251.40 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=2.799;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.4972;MQ=60.0;MQ0=0;MQRankSum=0.933;QD=13.97;ReadPosRankSum=-0.222;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HADHA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000380649 GT:AD:DP:GQ:PL 0/1:10,8:18:99:281,0,344
2 26438276 rs962217 T C 74.82 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=3.979;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=14.96;ReadPosRankSum=-1.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HADHA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000380649 GT:AD:DP:GQ:PL 0/1:2,3:5:63.73:105,0,64
2 26454996 rs7593175 A G 707.39 PASS AB=0.341;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.994;DB;DP=45;Dels=0.0;FS=2.932;HRun=0;HaplotypeScore=0.9469;MQ=58.45;MQ0=0;MQRankSum=0.242;QD=15.72;ReadPosRankSum=-0.675;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HADHA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461025 GT:AD:DP:GQ:PL 0/1:15,29:45:99:737,0,429
2 26455002 rs35746418 C G 434.47 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.898;DB;DP=45;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.9235;MQ=58.45;MQ0=0;MQRankSum=-0.967;QD=9.65;ReadPosRankSum=-0.561;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HADHA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461025 GT:AD:DP:GQ:PL 0/1:27,18:45:99:464,0,805
2 26455127 rs11552518 G A 522 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.088;DB;DP=38;Dels=0.0;FS=3.053;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.635;QD=13.74;ReadPosRankSum=0.496;SNPEFF_AMINO_ACID_CHANGE=Y158;SNPEFF_CODON_CHANGE=taC/taT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_26455028_26455147;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HADHA;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000380649 GT:AD:DP:GQ:PL 0/1:19,19:38:99:552,0,681
2 26457267 rs3892649 T G 408.30 PASS AB=0.552;AC=1;AF=0.50;AN=2;BaseQRankSum=1.294;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.724;QD=14.08;ReadPosRankSum=1.951;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HADHA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000380649 GT:AD:DP:GQ:PL 0/1:16,13:29:99:438,0,444
2 26461733 rs2303892 C G 272.85 PASS AB=0.474;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.531;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-2.164;QD=14.36;ReadPosRankSum=-0.694;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HADHA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000380649 GT:AD:DP:GQ:PL 0/1:9,10:19:99:303,0,242
2 26462093 rs12987980 A T 632.60 PASS AB=0.523;AC=1;AF=0.50;AN=2;BaseQRankSum=1.057;DB;DP=44;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.611;QD=14.38;ReadPosRankSum=-0.258;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HADHA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000380649 GT:AD:DP:GQ:PL 0/1:23,21:44:99:663,0,778
2 26467347 rs62128457 C A 92.75 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.19;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HADHA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000380649 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:125,9,0
2 26476977 rs10201087 A G 376.11 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.87;MQ0=0;QD=34.19;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HADHB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317799 GT:AD:DP:GQ:PL 1/1:0,11:11:30.10:409,30,0
2 26477125 rs3839049 G GACT 5566.26 PASS AC=2;AF=1.00;AN=2;DB;DP=87;FS=0.0;HRun=0;HaplotypeScore=237.8834;IndelType=I;MQ=57.62;MQ0=0;QD=63.98;SNPEFF_AMINO_ACID_CHANGE=-2T;SNPEFF_CODON_CHANGE=-/ACT;SNPEFF_EFFECT=CODON_INSERTION;SNPEFF_EXON_ID=exon_2_26477115_26477186;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HADHB;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000317799 GT:AD:DP:GQ:PL 1/1:4,80:87:99:5566,253,0
2 26501953 rs7604564 C A 526.55 PASS AB=0.565;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.692;DB;DP=46;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.99;MQ0=0;MQRankSum=-0.499;QD=11.45;ReadPosRankSum=-1.606;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HADHB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000425035 GT:AD:DP:GQ:PL 0/1:26,20:46:99:557,0,910
2 26502768 rs36064164 C T 326.88 PASS AB=0.231;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.437;DB;DP=13;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.8321;MQ=56.71;MQ0=0;MQRankSum=0.423;QD=25.14;ReadPosRankSum=1.437;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HADHB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000425035 GT:AD:DP:GQ:PL 0/1:3,10:13:85.57:357,0,86
2 26502875 rs1056389 T C 923.02 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=1.204;DB;DP=65;Dels=0.0;FS=9.288;HRun=0;HaplotypeScore=0.0;MQ=59.65;MQ0=0;MQRankSum=-0.059;QD=14.2;ReadPosRankSum=-0.033;SNPEFF_AMINO_ACID_CHANGE=V152;SNPEFF_CODON_CHANGE=gtT/gtC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_26502862_26502983;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HADHB;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000405867 GT:AD:DP:GQ:PL 0/1:35,30:65:99:953,0,1116
2 26505858 rs17528590 A G 732.98 PASS AB=0.593;AC=1;AF=0.50;AN=2;BaseQRankSum=3.063;DB;DP=59;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.196;QD=12.42;ReadPosRankSum=-1.967;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HADHB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000425035 GT:AD:DP:GQ:PL 0/1:35,24:59:99:763,0,1050
2 26507724 rs17528653 T C 2786.39 PASS AB=0.503;AC=1;AF=0.50;AN=2;BaseQRankSum=4.627;DB;DP=193;Dels=0.0;FS=1.303;HRun=0;HaplotypeScore=1.97;MQ=59.88;MQ0=0;MQRankSum=0.106;QD=14.44;ReadPosRankSum=-1.614;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HADHB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317799 GT:AD:DP:GQ:PL 0/1:97,96:193:99:2816,0,2665
2 26508187 rs2303894 A G 137.37 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=0.103;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=54.25;MQ0=0;MQRankSum=1.453;QD=12.49;ReadPosRankSum=-1.453;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HADHB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317799 GT:AD:DP:GQ:PL 0/1:6,5:11:99:167,0,172
2 26512733 rs1056632 T G 518.56 PASS AB=0.412;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.677;DB;DP=34;Dels=0.0;FS=4.218;HRun=0;HaplotypeScore=0.734;MQ=59.32;MQ0=0;MQRankSum=1.382;QD=15.25;ReadPosRankSum=-0.892;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HADHB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317799 GT:AD:DP:GQ:PL 0/1:14,20:34:99:549,0,449
2 26512957 rs1056471 G C 299.48 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.44;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HADHB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000537713 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:332,24,0
2 26532491 rs2007556 G T 150.60 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.098;DB;DP=10;Dels=0.0;FS=3.522;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.851;QD=15.06;ReadPosRankSum=-0.47;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GPR113;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000311519 GT:AD:DP:GQ:PL 0/1:5,5:10:99:181,0,139
2 26532735 rs3856397 G A 472.36 PASS AB=0.414;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.838;DB;DP=29;Dels=0.0;FS=3.032;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.705;QD=16.29;ReadPosRankSum=-0.554;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GPR113;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000311519 GT:AD:DP:GQ:PL 0/1:12,17:29:99:502,0,421
2 26533023 rs3851967 C T 1360.87 PASS AB=0.472;AC=1;AF=0.50;AN=2;BaseQRankSum=0.686;DB;DP=89;Dels=0.0;FS=8.62;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.477;QD=15.12;ReadPosRankSum=-1.673;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000442141 GT:AD:DP:GQ:PL 0/1:42,47:89:99:1391,0,1309
2 26534801 rs7568529 G A 647.59 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.202;DB;DP=48;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.564;QD=13.49;ReadPosRankSum=0.755;SNPEFF_AMINO_ACID_CHANGE=H202Y;SNPEFF_CODON_CHANGE=Cac/Tac;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_26533560_26534942;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GPR113;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000541401 GT:AD:DP:GQ:PL 0/1:24,24:48:99:678,0,742
2 26536299 rs11886746 C G 362 PASS AB=0.409;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.668;DB;DP=22;Dels=0.0;FS=8.351;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.068;QD=16.45;ReadPosRankSum=-0.735;SNPEFF_AMINO_ACID_CHANGE=P274;SNPEFF_CODON_CHANGE=ccG/ccC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_26536245_26536441;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GPR113;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000333478 GT:AD:DP:GQ:PL 0/1:9,13:22:99:392,0,188
2 26536555 rs7566473 T C 193.85 PASS AB=0.222;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.762;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.179;QD=21.54;ReadPosRankSum=-0.067;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GPR113;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000433584 GT:AD:DP:GQ:PL 0/1:2,7:9:53.26:224,0,53
2 26536694 rs2052937 C T 630.61 PASS AB=0.465;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.096;DB;DP=43;Dels=0.0;FS=1.422;HRun=0;HaplotypeScore=1.4972;MQ=60.0;MQ0=0;MQRankSum=-0.189;QD=14.67;ReadPosRankSum=-1.221;SNPEFF_AMINO_ACID_CHANGE=A205T;SNPEFF_CODON_CHANGE=Gct/Act;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_26536628_26536771;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GPR113;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000333478 GT:AD:DP:GQ:PL 0/1:20,23:43:99:661,0,599
2 26537499 rs10187359 A C 903.52 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.69;MQ0=0;QD=28.23;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GPR113;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000433584 GT:AD:DP:GQ:PL 1/1:0,32:32:72.23:937,72,0
2 26586067 rs6546938 G A 170.64 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.44;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260585 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:203,15,0
2 26586209 rs11903683 G C 2765.19 PASS AC=2;AF=1.00;AN=2;DB;DP=79;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9159;MQ=59.65;MQ0=0;QD=35.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260585 GT:AD:DP:GQ:PL 1/1:0,79:79:99:2798,208,0
2 26606347 rs13030294 T A 521.86 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.62;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260585 GT:AD:DP:GQ:PL 1/1:0,16:16:42.14:555,42,0
2 26607992 rs934280 T C 1463.09 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.76;MQ0=0;QD=29.86;SNPEFF_AMINO_ACID_CHANGE=A175;SNPEFF_CODON_CHANGE=gcT/gcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_26607827_26608007;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPT1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000447170 GT:AD:DP:GQ:PL 1/1:0,48:49:99:1496,117,0
2 26647277 rs7423300 T G 3332.93 PASS AC=2;AF=1.00;AN=2;DB;DP=99;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.7887;MQ=59.53;MQ0=0;QD=33.67;SNPEFF_AMINO_ACID_CHANGE=A165;SNPEFF_CODON_CHANGE=gcT/gcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_26647139_26647322;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC164;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000288710 GT:AD:DP:GQ:PL 1/1:0,99:99:99:3333,253,0
2 26652671 rs4356622 A G 974.24 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.47;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC164;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288710 GT:AD:DP:GQ:PL 1/1:0,30:30:81.26:1007,81,0
2 26653457 rs4450561 G A 2933.29 PASS AC=2;AF=1.00;AN=2;DB;DP=85;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.18;MQ0=0;QD=34.51;SNPEFF_AMINO_ACID_CHANGE=R34H;SNPEFF_CODON_CHANGE=cGt/cAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_26653357_26653521;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC164;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000442810 GT:AD:DP:GQ:PL 1/1:0,85:85:99:2966,217,0
2 26667615 rs61509377 T C 1023.89 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.44;SNPEFF_AMINO_ACID_CHANGE=W399R;SNPEFF_CODON_CHANGE=Tgg/Cgg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_26667584_26667816;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC164;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000288710 GT:AD:DP:GQ:PL 1/1:0,35:36:78.26:1057,78,0
2 26671544 rs4072407 A G 1866.60 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=59.53;MQ0=0;QD=31.64;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC164;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421869 GT:AD:DP:GQ:PL 1/1:0,59:59:99:1900,159,0
2 26676322 rs1402962 A G 1354.16 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.45;MQ0=0;QD=32.24;SNPEFF_AMINO_ACID_CHANGE=E164;SNPEFF_CODON_CHANGE=gaA/gaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_26676188_26676350;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC164;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000439066 GT:AD:DP:GQ:PL 1/1:0,42:42:99:1387,108,0
2 26677810 rs2280516 A G 413.32 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.5784;MQ=58.33;MQ0=0;QD=29.52;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC164;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000439066 GT:AD:DP:GQ:PL 1/1:0,14:14:36.10:446,36,0
2 26703369 rs6719195 A G 43.49 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=14.5;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OTOF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272371 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:75,6,0
2 26718179 rs34780859 C T 49.30 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.65;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OTOF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272371 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
2 26724725 rs6547079 T G 380.14 PASS AB=0.44;AC=1;AF=0.50;AN=2;BaseQRankSum=0.465;DB;DP=25;Dels=0.0;FS=4.678;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.739;QD=15.21;ReadPosRankSum=0.411;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OTOF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000380499 GT:AD:DP:GQ:PL 0/1:11,14:25:99:410,0,361
2 26726752 rs884390 G A 417.13 PASS AB=0.3;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.447;DB;DP=20;Dels=0.0;FS=6.539;HRun=1;HaplotypeScore=0.0;MQ=58.84;MQ0=0;MQRankSum=1.096;QD=20.86;ReadPosRankSum=-1.096;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OTOF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272371 GT:AD:DP:GQ:PL 0/1:6,14:20:99:447,0,158
2 26739247 rs7575020 T A 901.97 PASS AB=0.408;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.615;DB;DP=49;Dels=0.0;FS=4.694;HRun=0;HaplotypeScore=0.734;MQ=59.05;MQ0=0;MQRankSum=-0.856;QD=18.41;ReadPosRankSum=-0.163;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OTOF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272371 GT:AD:DP:GQ:PL 0/1:20,29:49:99:932,0,532
2 26739423 rs11687696 T C 517.73 PASS AB=0.63;AC=1;AF=0.50;AN=2;BaseQRankSum=0.945;DB;DP=54;Dels=0.0;FS=19.109;HRun=1;HaplotypeScore=1.7719;MQ=59.14;MQ0=0;MQRankSum=0.706;QD=9.59;ReadPosRankSum=1.11;SNPEFF_AMINO_ACID_CHANGE=T124;SNPEFF_CODON_CHANGE=acA/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_26739286_26739467;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OTOF;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000272371 GT:AD:DP:GQ:PL 0/1:34,20:54:99:548,0,1011
2 26741961 rs13031859 G A 149.75 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.741;DB;DP=10;Dels=0.0;FS=2.808;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.365;QD=14.97;ReadPosRankSum=0.741;SNPEFF_AMINO_ACID_CHANGE=R82C;SNPEFF_CODON_CHANGE=Cgc/Tgc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_26741878_26741977;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OTOF;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000272371 GT:AD:DP:GQ:PL 0/1:4,6:10:99:180,0,127
2 26750557 rs10865425 T C 287.57 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.95;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OTOF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272371 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:321,24,0
2 26750645 rs1879760 G A 493.07 PASS AB=0.24;AC=1;AF=0.50;AN=2;BaseQRankSum=1.623;DB;DP=25;Dels=0.0;FS=3.665;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.032;QD=19.72;ReadPosRankSum=-1.686;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OTOF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272371 GT:AD:DP:GQ:PL 0/1:6,19:25:99:523,0,143
2 26794844 rs71399395 AT A 330.09 PASS AC=2;AF=1.00;AN=2;DB;DP=10;FS=0.0;HRun=3;HaplotypeScore=40.2728;IndelType=D;MQ=56.38;MQ0=0;QD=33.01;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf70;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329615 GT:AD:DP:GQ:PL 1/1:0,10:10:30.09:372,30,0
2 26798893 rs13002673 A T 1938.42 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.39;MQ0=0;QD=33.42;SNPEFF_AMINO_ACID_CHANGE=R54W;SNPEFF_CODON_CHANGE=Agg/Tgg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_26798770_26799043;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf70;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000409392 GT:AD:DP:GQ:PL 1/1:0,58:58:99:1971,150,0
2 26799031 rs2272464 G A 1555.56 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.8941;MQ=58.96;MQ0=0;QD=31.75;SNPEFF_AMINO_ACID_CHANGE=E100K;SNPEFF_CODON_CHANGE=Gaa/Aaa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_26798770_26799043;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf70;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000409392 GT:AD:DP:GQ:PL 1/1:0,49:49:99:1589,117,0
2 26802392 rs2272467 A T 1050.95 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.03;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CIB4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288861 GT:AD:DP:GQ:PL 1/1:0,30:30:81.26:1084,81,0
2 26804122 rs744539 T G 330.11 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.01;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf70;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329615 GT:AD:DP:GQ:PL 1/1:0,10:10:27.09:363,27,0
2 26804143 rs744540 T C 374.23 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.39;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf70;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329615 GT:AD:DP:GQ:PL 1/1:0,16:16:30.10:407,30,0
2 26804218 rs935171 G A 1210.62 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=60.0;MQ0=0;QD=31.04;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf70;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329615 GT:AD:DP:GQ:PL 1/1:0,39:39:96.29:1244,96,0
2 26804247 rs935172 T C 1262.05 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.78;SNPEFF_AMINO_ACID_CHANGE=H136R;SNPEFF_CODON_CHANGE=cAc/cGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_26804075_26804261;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CIB4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000403670 GT:AD:DP:GQ:PL 1/1:0,41:41:99:1295,99,0
2 26806545 rs35349779 G A 356.14 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.38;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf70;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329615 GT:AD:DP:GQ:PL 1/1:0,11:11:30.10:389,30,0
2 26818006 rs1148962 T C 1934.84 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.7;MQ0=0;QD=30.71;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CIB4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288861 GT:AD:DP:GQ:PL 1/1:0,63:63:99:1968,156,0
2 26818021 rs1148963 C T 2233.56 PASS AC=2;AF=1.00;AN=2;DB;DP=69;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=59.73;MQ0=0;QD=32.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CIB4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288861 GT:AD:DP:GQ:PL 1/1:0,69:69:99:2267,178,0
2 26951449 rs1663002 G A 132.23 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.04;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNK3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302909 GT:AD:DP:GQ:PL 1/1:0,6:6:12.04:165,12,0
2 26997031 rs13007156 G A 123.79 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=0.597;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.55;MQ0=0;MQRankSum=0.597;QD=7.74;ReadPosRankSum=0.597;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=C2orf18;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344420 GT:AD:DP:GQ:PL 0/1:10,6:16:99:154,0,324
2 27014980 rs12992046 T C 283.36 PASS AB=0.621;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.292;DB;DP=29;Dels=0.0;FS=4.41;HRun=1;HaplotypeScore=0.0;MQ=59.2;MQ0=0;MQRankSum=0.427;QD=9.77;ReadPosRankSum=1.955;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CENPA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233505 GT:AD:DP:GQ:PL 0/1:18,11:29:99:313,0,645
2 27015118 rs13014800 G A 489.56 PASS AB=0.564;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.26;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.552;QD=12.55;ReadPosRankSum=0.382;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CENPA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233505 GT:AD:DP:GQ:PL 0/1:22,17:39:99:520,0,747
2 27015141 rs35344721 G GC 349.23 PASS AB=0.725;AC=1;AF=0.50;AN=2;BaseQRankSum=2.0;DB;DP=29;FS=0.0;HRun=2;HaplotypeScore=90.8929;IndelType=I;MQ=60.0;MQ0=0;MQRankSum=-0.157;QD=12.04;ReadPosRankSum=1.281;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CENPA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233505 GT:AD:DP:GQ:PL 0/1:18,11:29:99:388,0,577
2 27015903 rs2289017 T C 306.74 PASS AB=0.676;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.827;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9997;MQ=59.38;MQ0=0;MQRankSum=0.373;QD=8.29;ReadPosRankSum=-0.178;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CENPA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233505 GT:AD:DP:GQ:PL 0/1:25,12:37:99:337,0,902
2 27015969 rs2289018 G A 1354.06 PASS AB=0.546;AC=1;AF=0.50;AN=2;BaseQRankSum=4.542;DB;DP=97;Dels=0.0;FS=3.21;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=0.393;QD=13.96;ReadPosRankSum=0.834;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CENPA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233505 GT:AD:DP:GQ:PL 0/1:53,44:97:99:1384,0,1282
2 27016259 rs11687642 A G 273.63 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.618;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.706;QD=15.2;ReadPosRankSum=1.06;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CENPA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233505 GT:AD:DP:GQ:PL 0/1:9,9:18:99:304,0,296
2 27121394 rs79644076 G A 2749.81 PASS AB=0.525;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.313;DB;DP=199;Dels=0.0;FS=2.003;HRun=1;HaplotypeScore=2.9103;MQ=59.65;MQ0=0;MQRankSum=-0.509;QD=13.82;ReadPosRankSum=-0.276;SNPEFF_AMINO_ACID_CHANGE=R9;SNPEFF_CODON_CHANGE=agG/agA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_27121364_27121628;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DPYSL5;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000288699 GT:AD:DP:GQ:PL 0/1:104,94:199:99:2780,0,3228
2 27157396 rs920437 G A 449.52 PASS AB=0.423;AC=1;AF=0.50;AN=2;BaseQRankSum=3.944;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.11;MQ0=0;MQRankSum=1.246;QD=17.29;ReadPosRankSum=-0.519;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DPYSL5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288699 GT:AD:DP:GQ:PL 0/1:11,15:26:99:480,0,306
2 27157400 rs920436 A G 794.73 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.23;MQ0=0;QD=26.49;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DPYSL5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288699 GT:AD:DP:GQ:PL 1/1:0,30:30:72.18:828,72,0
2 27157788 rs920435 T C 60.86 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=15.21;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DPYSL5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288699 GT:AD:DP:GQ:PL 0/1:1,3:4:29.72:91,0,30
2 27163044 rs3739085 T C 453.22 PASS AB=0.548;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.78;DB;DP=42;Dels=0.0;FS=2.982;HRun=0;HaplotypeScore=1.7333;MQ=60.0;MQ0=0;MQRankSum=1.946;QD=10.79;ReadPosRankSum=0.177;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DPYSL5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288699 GT:AD:DP:GQ:PL 0/1:23,19:42:99:483,0,747
2 27164806 rs3820823 G A 1302.43 PASS AB=0.517;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.952;DB;DP=89;Dels=0.0;FS=2.91;HRun=0;HaplotypeScore=0.9995;MQ=59.48;MQ0=0;MQRankSum=-0.784;QD=14.63;ReadPosRankSum=1.835;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DPYSL5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288699 GT:AD:DP:GQ:PL 0/1:46,43:89:99:1332,0,1221
2 27169842 rs11126784 C A 296.14 PASS AB=0.353;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.854;DB;DP=17;Dels=0.0;FS=7.911;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.653;QD=17.42;ReadPosRankSum=-1.156;SNPEFF_AMINO_ACID_CHANGE=G558;SNPEFF_CODON_CHANGE=ggC/ggA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_27169778_27173219;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DPYSL5;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000288699 GT:AD:DP:GQ:PL 0/1:6,11:17:99:326,0,196
2 27246285 rs10865456 C T 2556.67 PASS AC=2;AF=1.00;AN=2;DB;DP=77;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.55;MQ0=0;QD=33.2;SNPEFF_AMINO_ACID_CHANGE=H69;SNPEFF_CODON_CHANGE=caC/caT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_27246200_27246345;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAPRE3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000233121 GT:AD:DP:GQ:PL 1/1:0,77:77:99:2590,193,0
2 27249245 rs3754733 A G 189.29 PASS AB=0.65;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.634;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.06;MQ0=0;MQRankSum=-0.713;QD=9.46;ReadPosRankSum=0.158;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAPRE3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000402218 GT:AD:DP:GQ:PL 0/1:13,7:20:99:219,0,441
2 27259794 rs13021112 G A 462.46 PASS AB=0.483;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.851;DB;DP=29;Dels=0.0;FS=1.518;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.415;QD=15.95;ReadPosRankSum=-0.851;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=TMEM214;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478980 GT:AD:DP:GQ:PL 0/1:14,15:29:99:492,0,469
2 27260469 rs1124649 G A 1082.47 PASS AB=0.558;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.343;DB;DP=86;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=-0.1;QD=12.59;ReadPosRankSum=-1.248;SNPEFF_AMINO_ACID_CHANGE=V306M;SNPEFF_CODON_CHANGE=Gtg/Atg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_27260429_27260570;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=TMEM214;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000404032 GT:AD:DP:GQ:PL 0/1:48,38:86:99:1112,0,1521
2 27261329 rs11690454 A G 1178.88 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.47;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=TMEM214;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460904 GT:AD:DP:GQ:PL 1/1:0,39:40:93.30:1212,93,0
2 27262763 rs68161854 GGGA G 1448.21 PASS AC=2;AF=1.00;AN=2;DB;DP=35;FS=0.0;HRun=0;HaplotypeScore=152.4085;IndelType=D;MQ=55.46;MQ0=0;QD=41.38;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=TMEM214;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460904 GT:AD:DP:GQ:PL 1/1:3,32:35:99:1490,99,0
2 27263122 rs1866654 T C 919.96 PASS AB=0.413;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.424;DB;DP=46;Dels=0.0;FS=16.528;HRun=1;HaplotypeScore=0.9983;MQ=59.5;MQ0=0;MQRankSum=-0.468;QD=20.0;ReadPosRankSum=1.74;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=TMEM214;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460904 GT:AD:DP:GQ:PL 0/1:19,27:46:99:950,0,607
2 27276166 rs114452057 C G 436.41 PASS AB=0.484;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.261;DB;DP=31;Dels=0.0;FS=5.449;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.376;QD=14.08;ReadPosRankSum=0.613;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGBL5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421915 GT:AD:DP:GQ:PL 0/1:15,16:31:99:466,0,529
2 27276202 rs3806520 G A 498.05 PASS AB=0.486;AC=1;AF=0.50;AN=2;BaseQRankSum=3.68;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=1.073;QD=14.23;ReadPosRankSum=0.248;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGBL5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421915 GT:AD:DP:GQ:PL 0/1:17,18:35:99:528,0,473
2 27277274 rs10181551 G A 37.29 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.026;QD=9.32;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGBL5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421915 GT:AD:DP:GQ:PL 0/1:2,2:4:67.28:67,0,71
2 27279416 rs2384570 A G 758.42 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.09;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGBL5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421915 GT:AD:DP:GQ:PL 1/1:0,27:27:72.16:791,72,0
2 27279820 rs2018138 T C 135.51 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=44.22;MQ0=0;QD=27.1;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGBL5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421915 GT:AD:DP:GQ:PL 1/1:0,5:5:15.03:168,15,0
2 27280092 rs6711384 T A 243.15 PASS AB=0.529;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.818;DB;DP=17;Dels=0.0;FS=3.274;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.529;QD=14.3;ReadPosRankSum=-0.625;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGBL5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421915 GT:AD:DP:GQ:PL 0/1:9,8:17:99:273,0,321
2 27280127 rs6721395 G A 312.05 PASS AB=0.481;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.412;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.043;QD=11.56;ReadPosRankSum=0.315;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGBL5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421915 GT:AD:DP:GQ:PL 0/1:13,14:27:99:342,0,349
2 27280460 rs7560144 A G 81.18 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=16.24;ReadPosRankSum=0.358;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGBL5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421915 GT:AD:DP:GQ:PL 0/1:2,3:5:67.19:111,0,67
2 27290525 rs11681145 A G 1314.01 PASS AB=0.551;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.122;DB;DP=128;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.6281;MQ=59.64;MQ0=0;MQRankSum=0.151;QD=10.27;ReadPosRankSum=0.443;SNPEFF_AMINO_ACID_CHANGE=P101;SNPEFF_CODON_CHANGE=ccA/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_27290362_27290703;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGBL5;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000441931 GT:AD:DP:GQ:PL 0/1:70,57:128:99:1344,0,2104
2 27291661 rs7575465 G A 152.80 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.779;DB;DP=12;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.05;MQ0=0;MQRankSum=-1.378;QD=12.73;ReadPosRankSum=0.869;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGBL5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000441931 GT:AD:DP:GQ:PL 0/1:6,6:12:99:183,0,207
2 27292651 rs10865461 T C 223.29 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.775;DB;DP=20;Dels=0.0;FS=6.419;HRun=0;HaplotypeScore=0.0;MQ=58.84;MQ0=0;MQRankSum=0.784;QD=11.16;ReadPosRankSum=-0.124;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGBL5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000441931 GT:AD:DP:GQ:PL 0/1:12,8:20:99:253,0,331
2 27293150 rs1053609 G T 570.30 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.012;DB;DP=44;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.58;MQ0=0;MQRankSum=0.978;QD=12.96;ReadPosRankSum=0.342;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGBL5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000441931 GT:AD:DP:GQ:PL 0/1:24,20:44:99:600,0,756
2 27303755 rs2736976 A G 256.20 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.62;SNPEFF_AMINO_ACID_CHANGE=Q149R;SNPEFF_CODON_CHANGE=cAg/cGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_27303600_27303820;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EMILIN1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000380320 GT:AD:DP:GQ:PL 1/1:0,10:10:21.07:289,21,0
2 27307769 rs2304682 G C 266.80 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=3.515;DB;DP=20;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.75;MQ0=0;MQRankSum=0.718;QD=13.34;ReadPosRankSum=-1.172;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EMILIN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000380320 GT:AD:DP:GQ:PL 0/1:10,10:20:99:297,0,277
2 27315021 rs6754356 G A 91.88 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=2.85;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.546;QD=5.74;ReadPosRankSum=-0.424;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KHK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260598 GT:AD:DP:GQ:PL 0/1:12,4:16:99:122,0,315
2 27315064 rs6754371 G A 338.66 PASS AB=0.552;AC=1;AF=0.50;AN=2;BaseQRankSum=2.952;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.391;QD=11.68;ReadPosRankSum=-0.317;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KHK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260598 GT:AD:DP:GQ:PL 0/1:16,13:29:99:369,0,373
2 27315252 rs2304681 G A 487.01 PASS AB=0.486;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.466;DB;DP=35;Dels=0.0;FS=7.302;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=0.569;QD=13.91;ReadPosRankSum=0.328;SNPEFF_AMINO_ACID_CHANGE=V49I;SNPEFF_CODON_CHANGE=Gtt/Att;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_27315200_27315316;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KHK;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000260598 GT:AD:DP:GQ:PL 0/1:17,18:35:99:517,0,494
2 27319826 rs9677784 A G 116.89 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.38;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CGREF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260595 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:149,12,0
2 27321887 rs4665944 A G 153.24 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.89;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CGREF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260595 GT:AD:DP:GQ:PL 1/1:0,7:7:18.03:186,18,0
2 27324036 rs1057394 G A 216.44 PASS AB=0.438;AC=1;AF=0.50;AN=2;BaseQRankSum=1.22;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.927;QD=13.53;ReadPosRankSum=1.096;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CGREF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260595 GT:AD:DP:GQ:PL 0/1:7,9:16:99:246,0,220
2 27324340 rs11893427 G A 265.78 PASS AB=0.708;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.768;DB;DP=97;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.9684;MQ=59.46;MQ0=0;MQRankSum=-1.523;QD=2.74;ReadPosRankSum=-4.247;SNPEFF_AMINO_ACID_CHANGE=P253;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_27323981_27324756;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CGREF1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000312734 GT:AD:DP:GQ:PL 0/1:68,28:97:99:296,0,2182
2 27324724 rs2384571 G C 391.54 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.632;DB;DP=48;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.52;MQ0=0;MQRankSum=0.202;QD=8.16;ReadPosRankSum=-0.671;SNPEFF_AMINO_ACID_CHANGE=T125;SNPEFF_CODON_CHANGE=acC/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_27324364_27324756;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CGREF1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000260595 GT:AD:DP:GQ:PL 0/1:30,18:48:99:422,0,932
2 27324751 rs2384572 G T 380.80 PASS AB=0.618;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.544;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=59.32;MQ0=0;MQRankSum=-0.602;QD=11.2;ReadPosRankSum=-0.071;SNPEFF_AMINO_ACID_CHANGE=I116;SNPEFF_CODON_CHANGE=atC/atA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_27324364_27324756;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CGREF1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000260595 GT:AD:DP:GQ:PL 0/1:21,13:34:99:411,0,738
2 27351279 rs1866561 G A 624.47 PASS AB=0.465;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.061;DB;DP=43;Dels=0.0;FS=5.348;HRun=2;HaplotypeScore=1.8997;MQ=60.0;MQ0=0;MQRankSum=-0.91;QD=14.52;ReadPosRankSum=-0.227;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=PREB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260643 GT:AD:DP:GQ:PL 0/1:20,23:43:99:654,0,655
2 27351948 rs6715286 T G 1805.77 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.4725;MQ=59.62;MQ0=0;QD=36.85;SNPEFF_AMINO_ACID_CHANGE=D137E;SNPEFF_CODON_CHANGE=gaT/gaG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_27351813_27351995;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ABHD1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000316470 GT:AD:DP:GQ:PL 1/1:0,49:49:99:1839,135,0
2 27354173 rs11126874 C A 255.33 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.92;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ABHD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000316470 GT:AD:DP:GQ:PL 1/1:0,8:8:21.07:288,21,0
2 27355454 rs4665948 A C 1103.75 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.45;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ABHD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000316470 GT:AD:DP:GQ:PL 1/1:0,33:33:93.26:1137,93,0
2 27359887 rs11121 C T 105.21 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.361;QD=11.69;ReadPosRankSum=0.729;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf53;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000432962 GT:AD:DP:GQ:PL 0/1:4,5:9:99:135,0,141
2 27360773 rs61741796 G A 231.14 PASS AB=0.438;AC=1;AF=0.50;AN=2;BaseQRankSum=1.799;DB;DP=16;Dels=0.0;FS=6.286;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.212;QD=14.45;ReadPosRankSum=1.482;SNPEFF_AMINO_ACID_CHANGE=P142L;SNPEFF_CODON_CHANGE=cCt/cTt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_27359723_27361562;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf53;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000335524 GT:AD:DP:GQ:PL 0/1:7,9:16:99:261,0,164
2 27424496 rs1006898 G A 590.63 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.53;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SLC5A6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000412471 GT:AD:DP:GQ:PL 1/1:0,20:20:45.15:624,45,0
2 27424636 rs1395 G A 1317.19 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.44;MQ0=0;QD=32.13;SNPEFF_AMINO_ACID_CHANGE=S481F;SNPEFF_CODON_CHANGE=tCc/tTc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_27424534_27424715;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SLC5A6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000310574 GT:AD:DP:GQ:PL 1/1:0,41:41:99:1350,102,0
2 27426256 . T G 177.61 PASS AB=0.65;AC=1;AF=0.50;AN=2;BaseQRankSum=2.932;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9832;MQ=58.84;MQ0=0;MQRankSum=-0.317;QD=8.88;ReadPosRankSum=0.317;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SLC5A6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401463 GT:AD:DP:GQ:PL 0/1:13,7:20:99:208,0,469
2 27426514 rs1275521 G C 131.05 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=55.16;MQ0=0;QD=32.76;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SLC5A6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401463 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:164,12,0
2 27426878 rs1275522 C T 82.10 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.37;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SLC5A6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401463 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:114,9,0
2 27428147 rs1298361 A G 436.45 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.17;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SLC5A6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401463 GT:AD:DP:GQ:PL 1/1:0,14:14:39.11:469,39,0
2 27428295 rs1275524 A G 1745.18 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.25;MQ0=0;QD=28.15;SNPEFF_AMINO_ACID_CHANGE=I219;SNPEFF_CODON_CHANGE=atT/atC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_27428218_27428372;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SLC5A6;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000310574 GT:AD:DP:GQ:PL 1/1:0,62:62:99:1778,144,0
2 27428702 rs1275525 A C 51 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.5;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SLC5A6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401463 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
2 27428815 rs1275526 C G 530.91 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.45;MQ0=0;QD=35.39;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SLC5A6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401463 GT:AD:DP:GQ:PL 1/1:0,15:15:42.13:564,42,0
2 27428877 rs1275527 C G 920.51 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.39;MQ0=0;QD=31.74;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SLC5A6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401463 GT:AD:DP:GQ:PL 1/1:0,29:29:72.23:954,72,0
2 27435250 rs1275533 A G 80.06 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.01;SNPEFF_AMINO_ACID_CHANGE=D60G;SNPEFF_CODON_CHANGE=gAc/gGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_27434895_27435335;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf28;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000380171 GT:AD:DP:GQ:PL 1/1:0,4:4:9.02:112,9,0
2 27435374 rs11608 G A 36.44 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=12.15;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf28;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000380171 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:68,6,0
2 27440785 rs1275536 C T 1710.16 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9967;MQ=60.0;MQ0=0;QD=32.89;SNPEFF_AMINO_ACID_CHANGE=T41;SNPEFF_CODON_CHANGE=acC/acT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_27440745_27440884;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAD;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000264705 GT:AD:DP:GQ:PL 1/1:0,52:52:99:1743,126,0
2 27457613 rs41288819 C G 38.95 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9332;MQ=60.0;MQ0=0;MQRankSum=1.231;QD=7.79;ReadPosRankSum=1.231;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464159 GT:AD:DP:GQ:PL 0/1:3,2:5:68.94:69,0,109
2 27466196 rs112312126 C G 235.59 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.077;DB;DP=15;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=53.52;MQ0=0;MQRankSum=0.231;QD=15.71;ReadPosRankSum=-0.077;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000487239 GT:AD:DP:GQ:PL 0/1:5,10:15:99:266,0,118
2 27503205 . A G 531.98 PASS AB=0.357;AC=1;AF=0.50;AN=2;BaseQRankSum=0.455;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9967;MQ=60.0;MQ0=0;MQRankSum=-1.366;QD=19.0;ReadPosRankSum=0.024;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAJC5G;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420191 GT:AD:DP:GQ:PL 0/1:10,18:28:99:562,0,326
2 27535311 rs80195355 T TG 6242.47 PASS AC=2;AF=1.00;AN=2;DB;DP=153;FS=0.0;HRun=2;HaplotypeScore=367.1723;IndelType=I;MQ=59.85;MQ0=0;QD=40.8;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MPV17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000399052 GT:AD:DP:GQ:PL 1/1:4,149:153:99:6242,436,0
2 27550967 rs1049817 A G 767.66 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=0.476;DB;DP=44;Dels=0.0;FS=2.751;HRun=2;HaplotypeScore=0.0;MQ=59.48;MQ0=0;MQRankSum=-1.598;QD=17.45;ReadPosRankSum=-1.5;SNPEFF_AMINO_ACID_CHANGE=P782;SNPEFF_CODON_CHANGE=ccT/ccC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_27550904_27551056;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GTF3C2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000264720 GT:AD:DP:GQ:PL 0/1:16,28:44:99:798,0,505
2 27556721 rs3739095 G A 903.27 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=0.259;DB;DP=60;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.259;QD=15.05;ReadPosRankSum=-0.956;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GTF3C2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470115 GT:AD:DP:GQ:PL 0/1:32,28:60:99:933,0,1035
2 27558252 rs11684134 A G 799.15 PASS AB=0.53;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.742;DB;DP=66;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=-0.44;QD=12.11;ReadPosRankSum=-1.57;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GTF3C2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470115 GT:AD:DP:GQ:PL 0/1:35,31:66:99:829,0,1028
2 27566520 rs11689803 T A 236.41 PASS AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.977;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.2;QD=12.44;ReadPosRankSum=-0.133;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GTF3C2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264720 GT:AD:DP:GQ:PL 0/1:10,9:19:99:266,0,368
2 27589810 rs2280737 T C 1998.63 PASS AB=0.49;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.307;DB;DP=149;Dels=0.0;FS=1.39;HRun=0;HaplotypeScore=0.734;MQ=59.85;MQ0=0;MQRankSum=-0.859;QD=13.41;ReadPosRankSum=-1.346;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EIF2B4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418146 GT:AD:DP:GQ:PL 0/1:73,76:149:99:2029,0,2227
2 27591804 rs80051818 T C 234.48 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=2.04;DB;DP=15;Dels=0.0;FS=3.31;HRun=0;HaplotypeScore=0.9665;MQ=60.0;MQ0=0;MQRankSum=-0.872;QD=15.63;ReadPosRankSum=-0.993;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EIF2B4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000347454 GT:AD:DP:GQ:PL 0/1:7,8:15:99:264,0,241
2 27592423 rs7602534 C T 956.58 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.963;DB;DP=68;Dels=0.0;FS=2.217;HRun=0;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=0.094;QD=14.07;ReadPosRankSum=0.746;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EIF2B4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000347454 GT:AD:DP:GQ:PL 0/1:34,34:68:99:987,0,1062
2 27597805 rs3215365 CTT C 267.70 PASS AB=0.632;AC=1;AF=0.50;AN=2;BaseQRankSum=1.0;DB;DP=12;FS=6.154;HRun=2;HaplotypeScore=46.0398;IndelType=D;MQ=60.0;MQ0=0;MQRankSum=-0.831;QD=22.31;ReadPosRankSum=0.244;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SNX17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464279 GT:AD:DP:GQ:PL 0/1:5,7:12:99:307,0,269
2 27598097 rs4665972 T C 154.17 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=51.77;MQ0=0;QD=25.69;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SNX17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464279 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:187,15,0
2 27599132 rs12475426 G A 584.10 PASS AB=0.52;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.955;DB;DP=50;Dels=0.0;FS=8.273;HRun=0;HaplotypeScore=1.5779;MQ=60.0;MQ0=0;MQRankSum=1.232;QD=11.68;ReadPosRankSum=1.112;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPM1G;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344034 GT:AD:DP:GQ:PL 0/1:26,24:50:99:614,0,829
2 27600239 rs13472 G A 60.57 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.19;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPM1G;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344034 GT:AD:DP:GQ:PL 1/1:0,3:3:9:93,9,0
2 27604279 rs4582 A G 46.65 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.32;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SNX17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233575 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:78,6,0
2 27606098 rs2384629 A G 243.47 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.78;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPM1G;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484925 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:276,21,0
2 27606586 rs76984581 C T 46.56 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.28;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPM1G;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484925 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:78,6,0
2 27608115 rs1647284 C T 128.81 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.2;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPM1G;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484925 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:161,12,0
2 27656822 rs72540418 G GA 2465.78 PASS AB=0.698;AC=1;AF=0.50;AN=2;BaseQRankSum=-8.392;DB;DP=155;FS=1.417;HRun=1;HaplotypeScore=343.0196;IndelType=I;MQ=60.14;MQ0=0;MQRankSum=-0.362;QD=15.91;ReadPosRankSum=1.236;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NRBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356442 GT:AD:DP:GQ:PL 0/1:88,67:155:99:2505,0,2878
2 27657167 rs704791 T C 122.31 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.876;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.159;QD=13.59;ReadPosRankSum=-0.876;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NRBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356442 GT:AD:DP:GQ:PL 0/1:4,5:9:99:152,0,141
2 27659491 rs780102 T C 82.49 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.731;QD=16.5;ReadPosRankSum=0.731;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NRBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356442 GT:AD:DP:GQ:PL 0/1:1,4:5:29.19:112,0,29
2 27663215 rs1260341 T A 666.04 PASS AB=0.432;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.18;DB;DP=44;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9967;MQ=60.0;MQ0=0;MQRankSum=-1.445;QD=15.14;ReadPosRankSum=-0.735;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IFT172;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260570 GT:AD:DP:GQ:PL 0/1:19,25:44:99:696,0,622
2 27663416 rs1260342 G T 602.72 PASS AB=0.487;AC=1;AF=0.50;AN=2;BaseQRankSum=0.323;DB;DP=39;Dels=0.0;FS=9.816;HRun=0;HaplotypeScore=1.7781;MQ=60.0;MQ0=0;MQRankSum=-0.576;QD=15.45;ReadPosRankSum=-1.756;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IFT172;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260570 GT:AD:DP:GQ:PL 0/1:19,20:39:99:633,0,623
2 27667297 rs4803 A G 49.73 PASS AB=0.706;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.161;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=-1.528;QD=2.93;ReadPosRankSum=-2.266;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IFT172;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420854 GT:AD:DP:GQ:PL 0/1:12,5:17:79.73:80,0,347
2 27670307 rs11126999 G A 588.88 PASS AB=0.452;AC=1;AF=0.50;AN=2;BaseQRankSum=2.441;DB;DP=31;Dels=0.0;FS=8.287;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.846;QD=19.0;ReadPosRankSum=1.885;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IFT172;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000450564 GT:AD:DP:GQ:PL 0/1:14,17:31:99:619,0,368
2 27676287 rs56076827 A T 1129.09 PASS AB=0.433;AC=1;AF=0.50;AN=2;BaseQRankSum=0.768;DB;DP=60;Dels=0.0;FS=1.008;HRun=0;HaplotypeScore=0.7887;MQ=59.62;MQ0=0;MQRankSum=-0.544;QD=18.51;ReadPosRankSum=1.201;SNPEFF_AMINO_ACID_CHANGE=S1305;SNPEFF_CODON_CHANGE=tcT/tcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_27676251_27676380;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IFT172;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000260570 GT:AD:DP:GQ:PL 0/1:26,34:60:99:1159,0,884
2 27681598 rs780106 A C 333.15 PASS AB=0.421;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.702;DB;DP=19;Dels=0.0;FS=2.629;HRun=0;HaplotypeScore=0.0;MQ=58.78;MQ0=0;MQRankSum=0.454;QD=17.53;ReadPosRankSum=-0.702;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IFT172;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260570 GT:AD:DP:GQ:PL 0/1:8,11:19:99:363,0,260
2 27682850 rs72819536 G T 167.28 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.532;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.87;MQ0=0;MQRankSum=0.143;QD=15.21;ReadPosRankSum=0.717;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IFT172;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260570 GT:AD:DP:GQ:PL 0/1:5,6:11:99:197,0,176
2 27684734 rs780107 A G 559.95 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=2.608;DB;DP=45;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.611;QD=12.44;ReadPosRankSum=0.799;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IFT172;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000489492 GT:AD:DP:GQ:PL 0/1:24,21:45:99:590,0,691
2 27685388 rs780110 G A 156.46 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.067;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.572;QD=19.56;ReadPosRankSum=0.572;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IFT172;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000489492 GT:AD:DP:GQ:PL 0/1:2,6:8:62.92:186,0,63
2 27688601 rs1647276 C T 3487.79 PASS AB=0.496;AC=1;AF=0.50;AN=2;BaseQRankSum=-6.163;DB;DP=242;DS;Dels=0.0;FS=16.176;HRun=0;HaplotypeScore=3.7799;MQ=59.43;MQ0=0;MQRankSum=0.883;QD=14.41;ReadPosRankSum=2.296;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IFT172;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260570 GT:AD:DP:GQ:PL 0/1:120,122:242:99:3488,0,3701
2 27706640 rs2272417 T C 207.40 PASS AB=0.619;AC=1;AF=0.50;AN=2;BaseQRankSum=0.616;DB;DP=22;Dels=0.0;FS=1.833;HRun=0;HaplotypeScore=0.0;MQ=58.95;MQ0=0;MQRankSum=0.253;QD=9.43;ReadPosRankSum=-0.833;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IFT172;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475476 GT:AD:DP:GQ:PL 0/1:13,8:22:99:237,0,455
2 27715207 rs8395 T A 258.98 PASS AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=2.164;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.78;MQ0=0;MQRankSum=-0.612;QD=13.63;ReadPosRankSum=0.122;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FNDC4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000476197 GT:AD:DP:GQ:PL 0/1:10,9:19:99:289,0,350
2 27715416 rs2303369 C T 666.70 PASS AB=0.489;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.549;DB;DP=48;Dels=0.0;FS=4.183;HRun=0;HaplotypeScore=0.7887;MQ=59.03;MQ0=0;MQRankSum=-0.439;QD=13.89;ReadPosRankSum=-1.604;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FNDC4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000476197 GT:AD:DP:GQ:PL 0/1:23,24:48:99:697,0,797
2 27716004 rs780088 T C 37.29 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=9.32;ReadPosRankSum=1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FNDC4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264703 GT:AD:DP:GQ:PL 0/1:2,2:4:67.28:67,0,69
2 27716494 rs704795 G A 206.51 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9578;MQ=55.64;MQ0=0;MQRankSum=1.034;QD=18.77;ReadPosRankSum=0.896;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FNDC4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264703 GT:AD:DP:GQ:PL 0/1:4,7:11:99:237,0,128
2 27721971 rs813592 T C 268.91 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.306;DB;DP=20;Dels=0.0;FS=3.245;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.34;QD=13.45;ReadPosRankSum=0.34;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GCKR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264717 GT:AD:DP:GQ:PL 0/1:10,10:20:99:299,0,351
2 27722416 rs1260320 G A 398.89 PASS AB=0.517;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.24;DB;DP=29;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.8941;MQ=59.36;MQ0=0;MQRankSum=1.811;QD=13.75;ReadPosRankSum=-0.546;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GCKR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264717 GT:AD:DP:GQ:PL 0/1:15,14:29:99:429,0,544
2 27728777 rs2293572 C G 376.37 PASS AB=0.61;AC=1;AF=0.50;AN=2;BaseQRankSum=1.622;DB;DP=41;Dels=0.0;FS=4.175;HRun=0;HaplotypeScore=1.6281;MQ=60.0;MQ0=0;MQRankSum=-0.734;QD=9.18;ReadPosRankSum=1.144;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GCKR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000417872 GT:AD:DP:GQ:PL 0/1:25,16:41:99:406,0,756
2 27729480 rs2293571 G A 523.26 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.433;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.36;MQ0=0;MQRankSum=-0.775;QD=14.53;ReadPosRankSum=-0.617;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GCKR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000453813 GT:AD:DP:GQ:PL 0/1:18,18:36:99:553,0,629
2 27730940 rs1260326 T C 1774.99 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.58;MQ0=0;QD=32.27;SNPEFF_AMINO_ACID_CHANGE=L256P;SNPEFF_CODON_CHANGE=cTg/cCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_27730844_27730941;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GCKR;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000424318 GT:AD:DP:GQ:PL 1/1:0,55:55:99:1808,144,0
2 27731212 rs3817588 T C 358.81 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.88;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GCKR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472290 GT:AD:DP:GQ:PL 1/1:0,10:10:30.10:392,30,0
2 27789861 rs965813 T A 868.98 PASS AB=0.608;AC=1;AF=0.50;AN=2;BaseQRankSum=0.459;DB;DP=79;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9996;MQ=59.71;MQ0=0;MQRankSum=0.214;QD=10.86;ReadPosRankSum=-0.449;SNPEFF_AMINO_ACID_CHANGE=F212I;SNPEFF_CODON_CHANGE=Ttc/Atc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_27789602_27790011;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC109829.1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000447166 GT:AD:DP:GQ:PL 0/1:48,31:79:99:899,0,1544
2 27801403 rs1919125 C G 453.46 PASS AB=0.642;AC=1;AF=0.50;AN=2;BaseQRankSum=0.454;DB;DP=53;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.56;MQ0=0;MQRankSum=-1.549;QD=8.56;ReadPosRankSum=-1.771;SNPEFF_AMINO_ACID_CHANGE=T655S;SNPEFF_CODON_CHANGE=aCt/aGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_27799389_27805588;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf16;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000408964 GT:AD:DP:GQ:PL 0/1:34,19:53:99:483,0,1148
2 27801418 rs1919126 C A 373.93 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.864;DB;DP=48;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.52;MQ0=0;MQRankSum=-0.798;QD=7.79;ReadPosRankSum=-1.039;SNPEFF_AMINO_ACID_CHANGE=A660E;SNPEFF_CODON_CHANGE=gCa/gAa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_27799389_27805588;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf16;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000408964 GT:AD:DP:GQ:PL 0/1:32,16:48:99:404,0,1045
2 27802805 rs3811644 A G 1500.38 PASS AB=0.484;AC=1;AF=0.50;AN=2;BaseQRankSum=3.864;DB;DP=92;Dels=0.0;FS=5.374;HRun=0;HaplotypeScore=0.9967;MQ=59.75;MQ0=0;MQRankSum=-1.092;QD=16.31;ReadPosRankSum=1.044;SNPEFF_AMINO_ACID_CHANGE=L1122;SNPEFF_CODON_CHANGE=ctA/ctG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_27799389_27805588;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf16;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000408964 GT:AD:DP:GQ:PL 0/1:44,47:92:99:1530,0,1266
2 27804432 rs28381983 T C 3869.29 PASS AB=0.439;AC=1;AF=0.50;AN=2;BaseQRankSum=5.23;DB;DP=246;DS;Dels=0.0;FS=1.589;HRun=2;HaplotypeScore=3.5899;MQ=59.36;MQ0=0;MQRankSum=2.151;QD=15.73;ReadPosRankSum=0.484;SNPEFF_AMINO_ACID_CHANGE=S1665P;SNPEFF_CODON_CHANGE=Tcc/Ccc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_27799389_27805588;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf16;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000408964 GT:AD:DP:GQ:PL 0/1:108,138:246:99:3869,0,3144
2 27824168 rs56725354 G C 290.04 PASS AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=0.857;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.184;QD=15.27;ReadPosRankSum=-0.204;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF512;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461705 GT:AD:DP:GQ:PL 0/1:10,9:19:99:320,0,360
2 27838058 rs11127071 C A 825.08 PASS AB=0.587;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.137;DB;DP=75;Dels=0.0;FS=3.183;HRun=0;HaplotypeScore=0.9789;MQ=60.0;MQ0=0;MQRankSum=0.307;QD=11.0;ReadPosRankSum=-0.178;SNPEFF_AMINO_ACID_CHANGE=L254;SNPEFF_CODON_CHANGE=ctC/ctA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_27838035_27838136;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF512;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000556601 GT:AD:DP:GQ:PL 0/1:44,31:75:99:855,0,1279
2 27838319 rs12233155 T C 40.91 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.45;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF512;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355467 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:72,6,0
2 27839107 rs6737921 T C 300.34 PASS AB=0.621;AC=1;AF=0.50;AN=2;BaseQRankSum=1.236;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.36;MQ0=0;MQRankSum=-1.011;QD=10.36;ReadPosRankSum=-1.191;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF512;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355467 GT:AD:DP:GQ:PL 0/1:18,11:29:99:330,0,587
2 27852117 rs60089768 A AGGTCTT 1832.98 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=5.181;DB;DP=38;FS=1.594;HRun=0;HaplotypeScore=280.5533;IndelType=I;MQ=47.12;MQ0=0;MQRankSum=-5.211;QD=48.24;ReadPosRankSum=2.416;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GPN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264718 GT:AD:DP:GQ:PL 0/1:19,19:38:99:1872,0,1140
2 27852150 . C CG 756.24 PASS AB=0.695;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.59;DP=56;FS=16.519;HRun=5;HaplotypeScore=296.5624;IndelType=I;MQ=53.24;MQ0=0;MQRankSum=-2.61;QD=13.27;ReadPosRankSum=-1.75;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GPN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264718 GT:AD:DP:GQ:PL 0/1:32,25:56:99:795,0,659
2 27852637 rs6547738 A G 176.26 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.485;DB;DP=14;Dels=0.0;FS=3.68;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=2.001;QD=12.59;ReadPosRankSum=-0.452;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GPN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264718 GT:AD:DP:GQ:PL 0/1:8,6:14:99:206,0,289
2 27855397 rs10173720 A T 334.65 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.857;DB;DP=19;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.234;QD=17.61;ReadPosRankSum=-0.796;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GPN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478484 GT:AD:DP:GQ:PL 0/1:6,12:19:99:365,0,194
2 27857992 rs4666009 T A 417.40 PASS AB=0.469;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.757;DB;DP=32;Dels=0.0;FS=6.139;HRun=0;HaplotypeScore=0.8321;MQ=55.52;MQ0=0;MQRankSum=-1.359;QD=13.04;ReadPosRankSum=0.227;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GPN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478484 GT:AD:DP:GQ:PL 0/1:15,17:32:99:447,0,425
2 27858167 rs10665947 C CTTTTT 550.56 PASS AB=0.769;AC=1;AF=0.50;AN=2;BaseQRankSum=1.804;DB;DP=20;FS=0.0;HRun=16;HaplotypeScore=241.7756;IndelType=I;MQ=45.61;MQ0=0;MQRankSum=-2.526;QD=27.53;ReadPosRankSum=-2.67;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GPN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478484 GT:AD:DP:GQ:PL 0/1:13,5:20:71.18:590,0,71
2 27861707 rs11692692 G A 243.31 PASS AB=0.593;AC=1;AF=0.50;AN=2;BaseQRankSum=2.01;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.14;MQ0=0;MQRankSum=0.028;QD=9.01;ReadPosRankSum=0.481;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF512;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000556601 GT:AD:DP:GQ:PL 0/1:16,11:27:99:273,0,452
2 27878686 rs4666010 T C 40.77 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=51.77;MQ0=0;QD=13.59;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GPN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264718 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:72,6,0
2 27884878 rs1569152 C T 89.74 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.91;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_2_27883851_27885148;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SUPT7L;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000406540 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:122,9,0
2 27887034 rs9678851 C A 685.44 PASS AB=0.438;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.259;DB;DP=48;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.6841;MQ=60.0;MQ0=0;MQRankSum=-1.431;QD=14.28;ReadPosRankSum=1.237;SNPEFF_AMINO_ACID_CHANGE=P139T;SNPEFF_CODON_CHANGE=Ccg/Acg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_27886338_27887444;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC4A1AP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000326019 GT:AD:DP:GQ:PL 0/1:21,27:48:99:715,0,473
2 27930837 rs4665385 C T 767.53 PASS AB=0.466;AC=1;AF=0.50;AN=2;BaseQRankSum=1.208;DB;DP=58;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.6;MQ0=0;MQRankSum=0.994;QD=13.23;ReadPosRankSum=0.058;SNPEFF_AMINO_ACID_CHANGE=G66R;SNPEFF_CODON_CHANGE=Ggg/Agg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_27928653_27931363;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC074091.13;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000379677 GT:AD:DP:GQ:PL 0/1:27,31:58:99:798,0,656
2 28002002 rs3792253 T C 972.80 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.38;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RBKS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302188 GT:AD:DP:GQ:PL 1/1:0,31:31:78.24:1006,78,0
2 28065875 rs34139736 C G 583.07 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RBKS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302188 GT:AD:DP:GQ:PL 1/1:0,17:17:45.15:616,45,0
2 28069713 rs11901133 T G 35.98 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.99;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RBKS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302188 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:67,6,0
2 28268822 rs1506533 G A 33.45 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=16.73;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BRE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342045 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:65,6,0
2 28464435 rs6737817 T C 46.56 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.28;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BRE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342045 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:78,6,0
2 28718897 rs4665423 A G 791.53 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.66;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000416713 GT:AD:DP:GQ:PL 1/1:0,25:25:63.18:825,63,0
2 28748857 rs4666085 T C 760.36 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.4725;MQ=55.74;MQ0=0;QD=27.16;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327757 GT:AD:DP:GQ:PL 1/1:0,28:28:63.18:793,63,0
2 28748916 rs10181687 A C 289.43 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=51.77;MQ0=0;QD=24.12;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327757 GT:AD:DP:GQ:PL 1/1:0,12:12:24.08:322,24,0
2 28752498 rs6728486 T C 443.27 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.94;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327757 GT:AD:DP:GQ:PL 1/1:0,12:12:36.12:476,36,0
2 28752555 rs4473343 T C 1162.16 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.34;MQ0=0;QD=33.2;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327757 GT:AD:DP:GQ:PL 1/1:0,35:35:87.29:1195,87,0
2 28752727 rs6710800 C G 504.35 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.02;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327757 GT:AD:DP:GQ:PL 1/1:0,14:14:42.11:537,42,0
2 28752741 rs6725577 A G 407.13 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.01;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327757 GT:AD:DP:GQ:PL 1/1:0,11:11:33.10:440,33,0
2 28761257 rs7589169 A G 84.56 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.04;MQ0=0;QD=14.09;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327757 GT:AD:DP:GQ:PL 1/1:0,5:6:9.03:117,9,0
2 28761282 rs7589254 A G 51 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.5;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327757 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
2 28761981 rs6753929 G C 1670.78 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.1;SNPEFF_AMINO_ACID_CHANGE=V167L;SNPEFF_CODON_CHANGE=Gta/Cta;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_28761966_28762032;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLB1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000416713 GT:AD:DP:GQ:PL 1/1:0,49:49:99:1704,126,0
2 28764452 rs13406540 C T 40.30 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.026;QD=10.07;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000416713 GT:AD:DP:GQ:PL 0/1:2,2:4:35.74:70,0,36
2 28764458 rs11127163 C A 124.48 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.75;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000416713 GT:AD:DP:GQ:PL 1/1:0,6:6:12.04:157,12,0
2 28771624 rs11680168 T G 283.52 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.44;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327757 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:316,24,0
2 28771825 rs185895091 C G 127.50 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=0.059;DB;DP=15;Dels=0.0;FS=8.451;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.884;QD=8.5;ReadPosRankSum=-1.827;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327757 GT:AD:DP:GQ:PL 0/1:9,6:15:99:157,0,303
2 28771897 rs11680304 T C 283.85 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.54;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327757 GT:AD:DP:GQ:PL 1/1:0,9:9:27.07:317,27,0
2 28785754 rs7560628 G C 130.99 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.75;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327757 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:163,12,0
2 28789643 rs10186460 T C 707.55 PASS AB=0.581;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.081;DB;DP=62;Dels=0.0;FS=2.384;HRun=0;HaplotypeScore=0.8667;MQ=58.64;MQ0=0;MQRankSum=-0.115;QD=11.41;ReadPosRankSum=0.667;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327757 GT:AD:DP:GQ:PL 0/1:36,26:62:99:738,0,1066
2 28789884 rs12714237 G A 82.06 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.35;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327757 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:114,9,0
2 28795962 rs13005854 G A 62.15 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=1.683;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.9;MQ0=0;MQRankSum=-1.422;QD=6.91;ReadPosRankSum=-2.054;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327757 GT:AD:DP:GQ:PL 0/1:6,3:9:92.14:92,0,195
2 28796291 rs1881251 G A 79.27 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=19.82;ReadPosRankSum=-0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327757 GT:AD:DP:GQ:PL 0/1:1,3:4:30.61:109,0,31
2 28800894 rs877832 C T 400.31 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.04;MQ0=0;QD=33.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327757 GT:AD:DP:GQ:PL 1/1:0,12:12:33.11:433,33,0
2 28802355 rs12466173 G C 255.40 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.49;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485642 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:288,21,0
2 28804835 rs113898629 GA G 201.42 PASS AC=2;AF=1.00;AN=2;DB;DP=12;FS=0.0;HRun=12;HaplotypeScore=41.5983;IndelType=D;MQ=61.78;MQ0=0;QD=16.79;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485642 GT:AD:DP:GQ:PL 1/1:1,10:12:33.74:243,34,0
2 28805410 rs4666102 C A 386.92 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.76;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485642 GT:AD:DP:GQ:PL 1/1:1,12:13:30.10:420,30,0
2 28808539 rs13393932 G A 249.19 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.6;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327757 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:282,21,0
2 28812285 rs12468715 T C 1062.02 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.5775;MQ=58.73;MQ0=0;QD=32.18;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327757 GT:AD:DP:GQ:PL 1/1:0,33:33:84.25:1095,84,0
2 28812982 rs4666105 C T 2221.37 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.4105;MQ=60.0;MQ0=0;QD=34.71;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327757 GT:AD:DP:GQ:PL 1/1:0,64:64:99:2254,163,0
2 28814033 rs11681826 A G 3079.26 PASS AC=2;AF=1.00;AN=2;DB;DP=93;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.0;MQ0=0;QD=33.11;SNPEFF_AMINO_ACID_CHANGE=M396V;SNPEFF_CODON_CHANGE=Atg/Gtg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_28814000_28814038;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLB1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000329020 GT:AD:DP:GQ:PL 1/1:0,93:93:99:3112,244,0
2 28814185 rs11127175 G T 398.42 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.22;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481449 GT:AD:DP:GQ:PL 1/1:0,11:11:33.08:431,33,0
2 28814548 rs12464271 A T 1068.63 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=58.83;MQ0=0;QD=29.68;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481449 GT:AD:DP:GQ:PL 1/1:0,36:36:90.26:1102,90,0
2 28814683 rs11127176 T C 984.44 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.36;MQ0=0;QD=27.35;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481449 GT:AD:DP:GQ:PL 1/1:0,36:36:81.25:1017,81,0
2 28816425 rs10176136 T C 352.15 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.22;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481449 GT:AD:DP:GQ:PL 1/1:0,10:10:30.10:385,30,0
2 28816814 rs35712549 C CTTT 1087.34 PASS AC=2;AF=1.00;AN=2;DB;DP=42;FS=0.0;HRun=14;HaplotypeScore=287.3774;IndelType=I;MQ=47.88;MQ0=0;QD=25.89;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481449 GT:AD:DP:GQ:PL 1/1:15,17:42:78.21:1129,78,0
2 28816948 rs4665429 C T 1366.47 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=51.99;MQ0=0;QD=34.16;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481449 GT:AD:DP:GQ:PL 1/1:0,40:40:99:1399,111,0
2 28821662 rs7557359 C T 605.04 PASS AB=0.45;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.047;DB;DP=40;Dels=0.0;FS=1.676;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.856;QD=15.13;ReadPosRankSum=-0.204;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329020 GT:AD:DP:GQ:PL 0/1:18,22:40:99:635,0,584
2 28821739 rs7573845 T G 220.72 PASS AB=0.385;AC=1;AF=0.50;AN=2;BaseQRankSum=0.696;DB;DP=13;Dels=0.0;FS=4.15;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.212;QD=16.98;ReadPosRankSum=-1.381;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329020 GT:AD:DP:GQ:PL 0/1:5,8:13:99:251,0,136
2 28821832 rs7573949 T C 50.72 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.36;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329020 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
2 28824303 rs1106882 C G 50.94 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=0.322;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.322;QD=6.37;ReadPosRankSum=1.92;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327757 GT:AD:DP:GQ:PL 0/1:5,3:8:80.94:81,0,162
2 28824793 rs7601771 C G 290.37 PASS AB=0.676;AC=1;AF=0.50;AN=2;BaseQRankSum=1.394;DB;DP=34;Dels=0.0;FS=8.695;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.318;QD=8.54;ReadPosRankSum=0.668;SNPEFF_AMINO_ACID_CHANGE=H868D;SNPEFF_CODON_CHANGE=Cac/Gac;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_28824766_28824831;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLB1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000422425 GT:AD:DP:GQ:PL 0/1:23,11:34:99:320,0,668
2 28824940 rs67381370 G A 43.53 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.573;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9734;MQ=60.0;MQ0=0;MQRankSum=0.248;QD=4.84;ReadPosRankSum=-0.248;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327757 GT:AD:DP:GQ:PL 0/1:6,3:9:73.52:74,0,224
2 28849435 rs10186023 T C 76.09 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=0.778;DB;DP=14;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=-0.354;QD=5.44;ReadPosRankSum=-0.495;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327757 GT:AD:DP:GQ:PL 0/1:10,4:14:99:106,0,335
2 28849473 rs899149 T C 90.39 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.017;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.922;QD=11.3;ReadPosRankSum=0.421;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327757 GT:AD:DP:GQ:PL 0/1:4,4:8:99:120,0,140
2 28855918 rs112781677 A AG 1203.67 PASS AC=2;AF=1.00;AN=2;DB;DP=30;FS=0.0;HRun=2;HaplotypeScore=69.4048;IndelType=I;MQ=60.72;MQ0=0;QD=40.12;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473272 GT:AD:DP:GQ:PL 1/1:0,30:30:87.29:1246,87,0
2 28865675 rs114156553 G T 77.30 PASS AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.731;DB;DP=6;Dels=0.0;FS=6.99;HRun=1;HaplotypeScore=0.0;MQ=56.82;MQ0=0;MQRankSum=0.731;QD=12.88;ReadPosRankSum=-0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327757 GT:AD:DP:GQ:PL 0/1:1,5:6:27.97:107,0,28
2 29001691 rs1128416 A G 1128.91 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.28;SNPEFF_AMINO_ACID_CHANGE=Q39;SNPEFF_CODON_CHANGE=caA/caG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_29001675_29001905;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPP1CB;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000455580 GT:AD:DP:GQ:PL 1/1:0,32:32:84.28:1162,84,0
2 29004923 rs6740859 G A 116.24 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.06;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPP1CB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418910 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:149,12,0
2 29041877 rs13009357 T C 1322.14 PASS AB=0.387;AC=1;AF=0.50;AN=2;BaseQRankSum=2.442;DB;DP=75;Dels=0.0;FS=6.691;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.506;QD=17.63;ReadPosRankSum=0.473;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SPDYA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334056 GT:AD:DP:GQ:PL 0/1:29,46:75:99:1352,0,759
2 29045323 rs4436918 C T 429.43 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.67;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SPDYA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000449210 GT:AD:DP:GQ:PL 1/1:0,14:14:33.11:462,33,0
2 29052256 rs12998251 T C 188.08 PASS AB=0.385;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.212;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=57.61;MQ0=0;MQRankSum=-1.256;QD=12.54;ReadPosRankSum=1.545;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SPDYA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334056 GT:AD:DP:GQ:PL 0/1:5,8:15:98.19:218,0,98
2 29083850 rs13025081 C A 30.52 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.537;DB;DP=6;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=5.09;ReadPosRankSum=0.406;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRMT61B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000306108 GT:AD:DP:GQ:PL 0/1:3,3:6:60.51:61,0,106
2 29087799 rs13030945 C A 54.32 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=0.322;DB;DP=8;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.684;QD=6.79;ReadPosRankSum=0.322;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRMT61B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000306108 GT:AD:DP:GQ:PL 0/1:5,3:8:84.31:84,0,183
2 29129300 rs113220687 AT A 47.72 QDFilter2 AB=0.775;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.941;DB;DP=31;FS=0.0;HRun=16;HaplotypeScore=210.3571;IndelType=D;MQ=58.86;MQ0=0;MQRankSum=-0.161;QD=1.54;ReadPosRankSum=0.665;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR43;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000434238 GT:AD:DP:GQ:PL 0/1:21,9:31:86.75:87,0,264
2 29129316 rs185574892 T A 158.06 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.399;DB;DP=35;Dels=0.0;FS=4.322;HRun=2;HaplotypeScore=1.5781;MQ=58.99;MQ0=0;MQRankSum=-0.627;QD=4.52;ReadPosRankSum=1.387;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR43;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000434238 GT:AD:DP:GQ:PL 0/1:21,14:35:99:188,0,331
2 29135468 rs6715296 C G 1235.61 PASS AB=0.614;AC=1;AF=0.50;AN=2;BaseQRankSum=4.475;DB;DP=127;Dels=0.0;FS=3.284;HRun=2;HaplotypeScore=2.4239;MQ=59.64;MQ0=0;MQRankSum=-0.032;QD=9.73;ReadPosRankSum=1.161;SNPEFF_AMINO_ACID_CHANGE=G166;SNPEFF_CODON_CHANGE=ggC/ggG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_29135456_29135576;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR43;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000407426 GT:AD:DP:GQ:PL 0/1:78,49:127:99:1266,0,2268
2 29137278 rs12714250 G C 143.59 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.684;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.684;QD=17.95;ReadPosRankSum=0.322;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR43;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000440983 GT:AD:DP:GQ:PL 0/1:3,5:8:99:174,0,102
2 29145725 rs9653591 G T 343.98 PASS AB=0.552;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.237;DB;DP=29;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=55.9;MQ0=0;MQRankSum=0.9;QD=11.86;ReadPosRankSum=-0.746;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR43;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296126 GT:AD:DP:GQ:PL 0/1:16,13:29:99:374,0,443
2 29152456 rs1140697 A G 1678.97 PASS AB=0.413;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.706;DB;DP=104;Dels=0.0;FS=3.922;HRun=1;HaplotypeScore=0.0;MQ=59.38;MQ0=0;MQRankSum=-0.311;QD=16.14;ReadPosRankSum=-0.59;SNPEFF_AMINO_ACID_CHANGE=E439;SNPEFF_CODON_CHANGE=gaA/gaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_29152445_29152576;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR43;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000407426 GT:AD:DP:GQ:PL 0/1:43,61:104:99:1709,0,1299
2 29161010 rs4233731 G A 215.24 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=0.965;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.739;QD=15.37;ReadPosRankSum=0.715;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR43;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466067 GT:AD:DP:GQ:PL 0/1:6,8:14:99:245,0,201
2 29169194 rs6745598 A G 112.45 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.38;QD=18.74;ReadPosRankSum=-1.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR43;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000407426 GT:AD:DP:GQ:PL 0/1:2,4:6:15.55:142,0,16
2 29169612 rs3087649 T C 695.06 PASS AB=0.351;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.563;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=-1.178;QD=18.79;ReadPosRankSum=0.495;SNPEFF_AMINO_ACID_CHANGE=D667;SNPEFF_CODON_CHANGE=gaT/gaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_29169466_29171088;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR43;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000407426 GT:AD:DP:GQ:PL 0/1:13,24:37:99:725,0,371
2 29226498 rs12613325 G A 591.89 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.71;MQ0=0;QD=32.88;SNPEFF_AMINO_ACID_CHANGE=P260;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_29226358_29226548;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM179A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000379558 GT:AD:DP:GQ:PL 1/1:0,18:18:45.15:625,45,0
2 29226512 rs12623297 A G 512.03 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=58.71;MQ0=0;QD=28.45;SNPEFF_AMINO_ACID_CHANGE=Q265R;SNPEFF_CODON_CHANGE=cAg/cGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_29226358_29226548;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM179A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000379558 GT:AD:DP:GQ:PL 1/1:0,18:18:42.13:545,42,0
2 29226559 rs12619829 C T 536.79 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.23;MQ0=0;QD=31.58;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM179A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420297 GT:AD:DP:GQ:PL 1/1:0,17:17:42.14:570,42,0
2 29240005 rs13409097 T C 4774.33 PASS AC=2;AF=1.00;AN=2;DB;DP=140;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.37;MQ0=0;QD=34.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM179A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000379558 GT:AD:DP:GQ:PL 1/1:0,140:140:99:4774,379,0
2 29244889 rs62130298 A C 434.69 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.22;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM179A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000379558 GT:AD:DP:GQ:PL 1/1:0,12:12:36.12:468,36,0
2 29244985 rs143610008 T G 639.33 PASS AB=0.378;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.868;DB;DP=45;Dels=0.0;FS=1.412;HRun=1;HaplotypeScore=0.9469;MQ=60.0;MQ0=0;MQRankSum=-0.62;QD=14.21;ReadPosRankSum=-0.597;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM179A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000379558 GT:AD:DP:GQ:PL 0/1:17,28:45:99:669,0,532
2 29245411 rs62130299 G A 92.54 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.13;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM179A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000379558 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:125,9,0
2 29274720 rs895591 A G 550.73 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.78;MQ0=0;QD=28.99;SNPEFF_AMINO_ACID_CHANGE=T886A;SNPEFF_CODON_CHANGE=Acc/Gcc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_29274622_29275094;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM179A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000403861 GT:AD:DP:GQ:PL 1/1:1,18:19:45.14:584,45,0
2 29355303 rs4666167 C T 41.90 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.95;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CLIP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471165 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:73,6,0
2 29356567 rs17749904 G C 288.93 PASS AB=0.593;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.962;DB;DP=27;Dels=0.0;FS=3.867;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.308;QD=10.7;ReadPosRankSum=0.913;SNPEFF_AMINO_ACID_CHANGE=L120;SNPEFF_CODON_CHANGE=ctG/ctC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_29356521_29356682;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CLIP4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000530644 GT:AD:DP:GQ:PL 0/1:16,11:27:99:319,0,553
2 29366830 rs3213947 A G 1175.85 PASS AB=0.589;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.803;DB;DP=124;Dels=0.0;FS=12.849;HRun=0;HaplotypeScore=0.9894;MQ=56.96;MQ0=0;MQRankSum=-2.223;QD=9.48;ReadPosRankSum=-1.892;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CLIP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000320081 GT:AD:DP:GQ:PL 0/1:73,51:124:99:1206,0,2197
2 29366875 rs3217572 C CACAG 1918.46 PASS AB=0.758;AC=1;AF=0.50;AN=2;BaseQRankSum=3.419;DB;DP=72;FS=7.324;HRun=0;HaplotypeScore=370.6756;IndelType=I;MQ=54.65;MQ0=0;MQRankSum=-3.33;QD=26.65;ReadPosRankSum=0.403;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CLIP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000320081 GT:AD:DP:GQ:PL 0/1:49,23:72:99:1957,0,2012
2 29375775 rs113615666 C CT 125.41 PASS AB=0.727;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.935;DB;DP=16;FS=0.0;HRun=8;HaplotypeScore=39.3079;IndelType=I;MQ=59.24;MQ0=0;MQRankSum=-1.369;QD=7.84;ReadPosRankSum=1.2;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CLIP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000320081 GT:AD:DP:GQ:PL 0/1:10,6:16:99:164,0,153
2 29379836 rs3112919 C T 96.73 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.18;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CLIP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000320081 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:129,9,0
2 29383374 rs2305450 G A 944.33 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.73;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CLIP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000320081 GT:AD:DP:GQ:PL 1/1:0,28:28:72.23:977,72,0
2 29386646 rs10200936 G C 370.53 PASS AB=0.649;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.461;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.252;QD=10.01;ReadPosRankSum=0.889;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CLIP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000320081 GT:AD:DP:GQ:PL 0/1:24,13:37:99:401,0,853
2 29390301 rs72790253 A G 346.99 PASS AB=0.606;AC=1;AF=0.50;AN=2;BaseQRankSum=1.124;DB;DP=33;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.7887;MQ=59.43;MQ0=0;MQRankSum=0.313;QD=10.51;ReadPosRankSum=0.608;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CLIP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000320081 GT:AD:DP:GQ:PL 0/1:20,13:33:99:377,0,682
2 29416025 rs10686493 C CATTG 440.04 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.977;DB;DP=12;FS=0.0;HRun=0;HaplotypeScore=45.904;IndelType=I;MQ=61.78;MQ0=0;MQRankSum=1.635;QD=36.67;ReadPosRankSum=-0.244;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000431873 GT:AD:DP:GQ:PL 0/1:6,5:12:99:479,0,244
2 29416366 rs1881421 G C 2664.73 PASS AB=0.508;AC=1;AF=0.50;AN=2;BaseQRankSum=1.01;DB;DP=197;Dels=0.0;FS=1.861;HRun=0;HaplotypeScore=2.5061;MQ=59.3;MQ0=0;MQRankSum=0.123;QD=13.53;ReadPosRankSum=0.495;SNPEFF_AMINO_ACID_CHANGE=D1529E;SNPEFF_CODON_CHANGE=gaC/gaG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_29415640_29416788;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALK;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000389048 GT:AD:DP:GQ:PL 0/1:100,97:197:99:2695,0,3141
2 29416481 rs1881420 T C 1117.69 PASS AB=0.543;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.081;DB;DP=92;Dels=0.0;FS=1.798;HRun=2;HaplotypeScore=1.8218;MQ=59.25;MQ0=0;MQRankSum=-0.294;QD=12.15;ReadPosRankSum=-0.004;SNPEFF_AMINO_ACID_CHANGE=K1491R;SNPEFF_CODON_CHANGE=aAg/aGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_29415640_29416788;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALK;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000389048 GT:AD:DP:GQ:PL 0/1:50,42:92:99:1148,0,1622
2 29416572 rs1670283 T C 2156.11 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.7987;MQ=58.15;MQ0=0;QD=34.22;SNPEFF_AMINO_ACID_CHANGE=I1461V;SNPEFF_CODON_CHANGE=Atc/Gtc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_29415640_29416788;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALK;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000389048 GT:AD:DP:GQ:PL 1/1:0,63:63:99:2189,166,0
2 29419591 rs1670284 G T 797.76 PASS AB=0.431;AC=1;AF=0.50;AN=2;BaseQRankSum=0.609;DB;DP=51;Dels=0.0;FS=3.116;HRun=3;HaplotypeScore=0.7887;MQ=59.55;MQ0=0;MQRankSum=1.278;QD=15.64;ReadPosRankSum=-0.786;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389048 GT:AD:DP:GQ:PL 0/1:22,29:51:99:828,0,704
2 29420315 rs3738870 C T 420.79 PASS AB=0.318;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.974;DB;DP=22;Dels=0.0;FS=4.973;HRun=0;HaplotypeScore=1.9747;MQ=60.0;MQ0=0;MQRankSum=-1.551;QD=19.13;ReadPosRankSum=-1.551;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389048 GT:AD:DP:GQ:PL 0/1:7,15:22:99:451,0,236
2 29429888 rs4666178 G A 52.22 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.41;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389048 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:83,6,0
2 29444076 rs1534545 G T 40.01 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=13.34;ReadPosRankSum=0.736;SNPEFF_AMINO_ACID_CHANGE=F79L;SNPEFF_CODON_CHANGE=ttC/ttA;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_29443736_29444103;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALK;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000453137 GT:AD:DP:GQ:PL 0/1:1,2:3:33.98:70,0,34
2 29444095 rs1569156 C T 91.02 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.34;SNPEFF_AMINO_ACID_CHANGE=W73*;SNPEFF_CODON_CHANGE=tGg/tAg;SNPEFF_EFFECT=STOP_GAINED;SNPEFF_EXON_ID=exon_2_29443736_29444103;SNPEFF_FUNCTIONAL_CLASS=NONSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALK;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000453137 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:123,9,0
2 29445157 rs76002034 G C 128.46 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=0.143;DB;DP=11;Dels=0.0;FS=3.424;HRun=0;HaplotypeScore=0.0;MQ=53.36;MQ0=0;MQRankSum=0.466;QD=11.68;ReadPosRankSum=0.825;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389048 GT:AD:DP:GQ:PL 0/1:6,5:11:99:158,0,206
2 29445458 rs3795850 G T 208.35 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.122;DB;DP=20;Dels=0.0;FS=2.017;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.041;QD=10.42;ReadPosRankSum=-0.939;SNPEFF_AMINO_ACID_CHANGE=G1125;SNPEFF_CODON_CHANGE=ggC/ggA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_29445383_29445473;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALK;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000389048 GT:AD:DP:GQ:PL 0/1:10,10:20:99:238,0,303
2 29446184 rs2276550 C G 197.68 PASS AB=0.474;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.899;DB;DP=19;Dels=0.0;FS=2.35;HRun=0;HaplotypeScore=0.9987;MQ=60.0;MQ0=0;MQRankSum=0.286;QD=10.4;ReadPosRankSum=0.531;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389048 GT:AD:DP:GQ:PL 0/1:9,10:19:99:228,0,291
2 29446202 rs4622670 G A 246.41 PASS AB=0.55;AC=1;AF=0.50;AN=2;BaseQRankSum=1.671;DB;DP=20;Dels=0.0;FS=2.017;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.38;QD=12.32;ReadPosRankSum=-0.228;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389048 GT:AD:DP:GQ:PL 0/1:11,9:20:99:276,0,261
2 29451511 rs11687789 C G 78.88 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=51.77;MQ0=0;QD=26.29;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389048 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:111,9,0
2 29455016 rs12714270 C T 418.96 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.2;MQ0=0;QD=32.23;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389048 GT:AD:DP:GQ:PL 1/1:0,13:13:36.10:452,36,0
2 29455267 rs2256740 A G 1301.88 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.84;MQ0=0;QD=32.55;SNPEFF_AMINO_ACID_CHANGE=G845;SNPEFF_CODON_CHANGE=ggT/ggC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_29455170_29455314;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALK;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000389048 GT:AD:DP:GQ:PL 1/1:0,40:40:99:1335,99,0
2 29456384 rs77684724 T C 121.72 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=1.186;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9734;MQ=59.11;MQ0=0;MQRankSum=-1.397;QD=4.68;ReadPosRankSum=-0.29;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389048 GT:AD:DP:GQ:PL 0/1:16,10:26:99:152,0,550
2 29456385 rs76630156 G A 124.56 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.764;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9734;MQ=59.11;MQ0=0;MQRankSum=0.29;QD=4.79;ReadPosRankSum=-0.184;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389048 GT:AD:DP:GQ:PL 0/1:16,10:26:99:155,0,552
2 29498210 rs4589708 A G 1339.46 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.9;MQ0=0;QD=35.25;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389048 GT:AD:DP:GQ:PL 1/1:0,38:38:99:1372,105,0
2 29519622 rs2272409 C T 313.89 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.16;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389048 GT:AD:DP:GQ:PL 1/1:0,12:12:27.06:347,27,0
2 29520085 rs4666194 G A 106.26 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.57;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389048 GT:AD:DP:GQ:PL 1/1:0,4:4:12.02:139,12,0
2 29541104 rs2276549 C T 132.26 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.978;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.817;QD=10.17;ReadPosRankSum=2.524;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389048 GT:AD:DP:GQ:PL 0/1:8,5:13:99:162,0,254
2 29543663 rs2293564 T C 1514.04 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7882;MQ=58.2;MQ0=0;QD=29.12;SNPEFF_AMINO_ACID_CHANGE=Q500;SNPEFF_CODON_CHANGE=caA/caG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_29543617_29543748;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALK;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000389048 GT:AD:DP:GQ:PL 1/1:0,52:52:99:1547,117,0
2 29754721 rs11689790 T C 426.25 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.79;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389048 GT:AD:DP:GQ:PL 1/1:0,13:13:33.11:459,33,0
2 29917660 . G C 410.24 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.217;DP=35;Dels=0.0;FS=1.998;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.083;QD=11.72;ReadPosRankSum=0.283;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389048 GT:AD:DP:GQ:PL 0/1:20,15:35:99:440,0,687
2 29917940 rs2256376 C G 164.46 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.998;DB;DP=18;Dels=0.0;FS=3.31;HRun=0;HaplotypeScore=0.0;MQ=58.71;MQ0=0;MQRankSum=0.578;QD=9.14;ReadPosRankSum=-0.368;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389048 GT:AD:DP:GQ:PL 0/1:9,9:18:99:194,0,281
2 29940529 rs2246745 A T 491.79 PASS AB=0.575;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.988;DB;DP=40;Dels=0.0;FS=2.909;HRun=0;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=0.552;QD=12.29;ReadPosRankSum=0.411;SNPEFF_AMINO_ACID_CHANGE=P234;SNPEFF_CODON_CHANGE=ccT/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_29940444_29940563;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALK;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000389048 GT:AD:DP:GQ:PL 0/1:23,17:40:99:522,0,733
2 30143499 rs4358080 G C 169.48 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.04;MQ0=0;QD=28.25;SNPEFF_AMINO_ACID_CHANGE=L9;SNPEFF_CODON_CHANGE=ctC/ctG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_30142859_30144432;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALK;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000389048 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:202,15,0
2 30381505 rs1137288 T C 657.21 PASS AB=0.463;AC=1;AF=0.50;AN=2;BaseQRankSum=0.222;DB;DP=41;Dels=0.0;FS=1.21;HRun=0;HaplotypeScore=0.0;MQ=59.54;MQ0=0;MQRankSum=0.196;QD=16.03;ReadPosRankSum=0.771;SNPEFF_AMINO_ACID_CHANGE=S54;SNPEFF_CODON_CHANGE=agT/agC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_30381485_30383399;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=YPEL5;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000261353 GT:AD:DP:GQ:PL 0/1:19,22:41:99:687,0,563
2 30482099 rs906864 G A 154.77 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=1.562;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.75;MQ0=0;MQRankSum=0.752;QD=10.32;ReadPosRankSum=-1.562;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LBH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401506 GT:AD:DP:GQ:PL 0/1:8,7:15:99:185,0,252
2 30682360 rs829574 G A 1298.71 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.08;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LCLAT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309052 GT:AD:DP:GQ:PL 1/1:0,36:36:99:1332,99,0
2 30682470 rs55723517 A T 1647.82 PASS AB=0.56;AC=1;AF=0.50;AN=2;BaseQRankSum=0.002;DB;DP=151;Dels=0.0;FS=0.617;HRun=1;HaplotypeScore=2.7012;MQ=59.54;MQ0=0;MQRankSum=-0.224;QD=10.91;ReadPosRankSum=0.235;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LCLAT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000379509 GT:AD:DP:GQ:PL 0/1:84,66:151:99:1678,0,2464
2 30682630 rs829573 T A 593.83 PASS AB=0.548;AC=1;AF=0.50;AN=2;BaseQRankSum=1.346;DB;DP=42;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.45;MQ0=0;MQRankSum=-0.431;QD=14.14;ReadPosRankSum=0.928;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LCLAT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309052 GT:AD:DP:GQ:PL 0/1:23,19:42:99:624,0,776
2 30748321 rs829618 A G 462.36 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.53;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LCLAT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309052 GT:AD:DP:GQ:PL 1/1:0,12:12:36.12:495,36,0
2 30748373 rs13429099 T G 443.23 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.555;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.89;MQ0=0;MQRankSum=0.634;QD=21.11;ReadPosRankSum=0.792;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LCLAT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309052 GT:AD:DP:GQ:PL 0/1:7,14:21:99:473,0,229
2 30748733 rs766880 G T 147.07 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=0.103;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9958;MQ=60.0;MQ0=0;MQRankSum=0.676;QD=13.37;ReadPosRankSum=1.268;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LCLAT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309052 GT:AD:DP:GQ:PL 0/1:5,6:11:99:177,0,178
2 30790818 rs6759011 G T 983.11 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.81;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LCLAT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309052 GT:AD:DP:GQ:PL 1/1:0,26:26:75.24:1016,75,0
2 30791152 rs6749074 A G 261.40 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.66;MQ0=0;QD=26.14;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LCLAT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000476038 GT:AD:DP:GQ:PL 1/1:0,10:10:24.07:294,24,0
2 30862842 rs150564049 AG A 143.81 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=1.159;DB;DP=9;FS=0.0;HRun=1;HaplotypeScore=24.7242;IndelType=D;MQ=60.0;MQ0=0;MQRankSum=0.876;QD=15.98;ReadPosRankSum=-0.729;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LCLAT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309052 GT:AD:DP:GQ:PL 0/1:4,5:9:99:183,0,165
2 30862980 rs12466818 C T 907.84 PASS AB=0.66;AC=1;AF=0.50;AN=2;BaseQRankSum=0.763;DB;DP=101;Dels=0.0;FS=4.392;HRun=0;HaplotypeScore=2.9391;MQ=59.77;MQ0=0;MQRankSum=-0.807;QD=8.99;ReadPosRankSum=0.446;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LCLAT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309052 GT:AD:DP:GQ:PL 0/1:66,34:101:99:938,0,2030
2 30863092 rs12467646 C T 1233.16 PASS AB=0.53;AC=1;AF=0.50;AN=2;BaseQRankSum=5.311;DB;DP=83;Dels=0.0;FS=19.666;HRun=0;HaplotypeScore=0.5784;MQ=59.16;MQ0=0;MQRankSum=-0.093;QD=14.86;ReadPosRankSum=-0.622;SNPEFF_AMINO_ACID_CHANGE=H246;SNPEFF_CODON_CHANGE=caC/caT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_30862983_30867090;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LCLAT1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000379509 GT:AD:DP:GQ:PL 0/1:44,39:83:99:1263,0,1148
2 30863108 rs12471868 A G 1194.15 PASS AB=0.494;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.989;DB;DP=85;Dels=0.0;FS=13.202;HRun=0;HaplotypeScore=0.0;MQ=59.18;MQ0=0;MQRankSum=0.228;QD=14.05;ReadPosRankSum=-1.141;SNPEFF_AMINO_ACID_CHANGE=I252V;SNPEFF_CODON_CHANGE=Ata/Gta;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_30862983_30867090;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LCLAT1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000379509 GT:AD:DP:GQ:PL 0/1:42,43:85:99:1224,0,1444
2 30955528 rs2276567 C A 131.22 PASS AB=0.143;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.742;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.742;QD=18.75;ReadPosRankSum=0.742;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CAPN13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295055 GT:AD:DP:GQ:PL 0/1:1,6:7:22.59:161,0,23
2 30959262 rs509380 G T 828.06 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.99;MQ0=0;QD=36.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CAPN13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000458085 GT:AD:DP:GQ:PL 1/1:0,23:23:69.18:861,69,0
2 30961400 rs35032002 AG A 251.82 PASS AC=2;AF=1.00;AN=2;DB;DP=7;FS=0.0;HRun=1;HaplotypeScore=16.9127;IndelType=D;MQ=61.53;MQ0=0;QD=35.97;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CAPN13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000458085 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:294,21,0
2 30966737 rs939368 G A 563.56 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.55;MQ0=0;QD=35.22;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CAPN13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295055 GT:AD:DP:GQ:PL 1/1:0,16:16:45.12:597,45,0
2 30973825 rs1879283 C A 301.53 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.69;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CAPN13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295055 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:334,24,0
2 30973913 rs62142187 A C 827.39 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CAPN13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295055 GT:AD:DP:GQ:PL 1/1:0,25:25:66.21:860,66,0
2 30975961 rs62142192 G T 6795.96 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.373;DB;DP=228;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=3.8692;MQ=59.92;MQ0=0;MQRankSum=-0.806;QD=29.81;ReadPosRankSum=-0.708;SNPEFF_AMINO_ACID_CHANGE=Q349K;SNPEFF_CODON_CHANGE=Caa/Aaa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_30975919_30976064;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CAPN13;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000295055 GT:AD:DP:GQ:PL 1/1:2,226:228:99:6796,509,0
2 30977073 rs485100 G A 722.74 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;QD=38.04;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CAPN13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465960 GT:AD:DP:GQ:PL 1/1:0,19:19:57.16:756,57,0
2 30977354 rs482384 C T 471.87 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.2;MQ0=0;QD=36.3;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CAPN13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465960 GT:AD:DP:GQ:PL 1/1:0,13:13:39.12:505,39,0
2 30985829 rs498686 C T 33.23 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=16.62;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CAPN13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485248 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:64,6,0
2 30986989 rs579016 G T 93.07 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.02;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CAPN13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485248 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:125,9,0
2 30999023 rs11318503 AT A 369.91 PASS AC=2;AF=1.00;AN=2;DB;DP=19;FS=0.0;HRun=9;HaplotypeScore=51.6939;IndelType=D;MQ=60.0;MQ0=0;QD=19.47;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CAPN13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295055 GT:AD:DP:GQ:PL 1/1:4,15:19:45.01:412,45,0
2 31009977 rs1915125 G C 887.89 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.6;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CAPN13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295055 GT:AD:DP:GQ:PL 1/1:0,23:23:69.21:921,69,0
2 31010287 rs62139466 G A 341.71 PASS AB=0.421;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.427;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.784;QD=17.98;ReadPosRankSum=-1.61;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CAPN13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295055 GT:AD:DP:GQ:PL 0/1:8,11:19:99:372,0,284
2 31133939 rs2278079 G C 906.60 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.28;MQ0=0;QD=34.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GALNT14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000324589 GT:AD:DP:GQ:PL 1/1:0,26:26:69.22:940,69,0
2 31135184 rs2288101 G T 1239.28 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.51;SNPEFF_AMINO_ACID_CHANGE=Q434K;SNPEFF_CODON_CHANGE=Cag/Aag;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_31135089_31135208;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GALNT14;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000420311 GT:AD:DP:GQ:PL 1/1:0,42:42:93.30:1272,93,0
2 31178393 rs73923310 T C 266.69 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.834;DB;DP=28;Dels=0.0;FS=1.792;HRun=1;HaplotypeScore=0.9999;MQ=60.0;MQ0=0;MQRankSum=-0.302;QD=9.52;ReadPosRankSum=-0.859;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GALNT14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461193 GT:AD:DP:GQ:PL 0/1:16,12:28:99:297,0,485
2 31178818 rs2288100 C T 2589.03 PASS AB=0.541;AC=1;AF=0.50;AN=2;BaseQRankSum=1.752;DB;DP=196;DS;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.734;MQ=59.88;MQ0=0;MQRankSum=-0.042;QD=13.21;ReadPosRankSum=-1.189;SNPEFF_AMINO_ACID_CHANGE=K129;SNPEFF_CODON_CHANGE=aaG/aaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_31178778_31178843;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GALNT14;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000420311 GT:AD:DP:GQ:PL 0/1:106,90:196:99:2619,0,3273
2 31181139 rs2303325 C T 36.41 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.55;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.55;QD=5.2;ReadPosRankSum=0.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GALNT14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000324589 GT:AD:DP:GQ:PL 0/1:4,3:7:66.40:66,0,146
2 31188957 rs889896 C T 87.10 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.03;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GALNT14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000490212 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:119,9,0
2 31401290 rs4952052 A C 1425.20 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.52;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CAPN14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000403897 GT:AD:DP:GQ:PL 1/1:0,37:37:99:1458,108,0
2 31403686 . G T 46.77 PASS AB=0.3;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.572;DP=10;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=52.65;MQ0=0;MQRankSum=-1.067;QD=4.68;ReadPosRankSum=1.589;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CAPN14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000403897 GT:AD:DP:GQ:PL 0/1:3,7:10:42.51:77,0,43
2 31409434 . G T 188.14 PASS AB=0.588;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.708;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9665;MQ=58.63;MQ0=0;MQRankSum=0.927;QD=11.07;ReadPosRankSum=-1.122;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CAPN14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000403897 GT:AD:DP:GQ:PL 0/1:10,7:17:99:218,0,359
2 31410708 rs1822496 C T 2419.03 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.8633;MQ=59.65;MQ0=0;QD=37.22;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CAPN14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000403897 GT:AD:DP:GQ:PL 1/1:0,64:65:99:2452,184,0
2 31414807 rs1562022 C G 250.22 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.8;SNPEFF_AMINO_ACID_CHANGE=L424;SNPEFF_CODON_CHANGE=ctG/ctC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_31414801_31414964;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CAPN14;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000403897 GT:AD:DP:GQ:PL 1/1:0,9:9:21.07:283,21,0
2 31415826 rs6543614 A G 89.26 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.75;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CAPN14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000403897 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:121,9,0
2 31415831 rs6543615 A G 61.13 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CAPN14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000403897 GT:AD:DP:GQ:PL 1/1:0,3:3:9:93,9,0
2 31415967 rs7591444 T C 772.42 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.9789;MQ=58.99;MQ0=0;QD=33.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CAPN14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000403897 GT:AD:DP:GQ:PL 1/1:0,23:23:63.20:805,63,0
2 31416213 rs11124248 T C 366.84 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.68;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CAPN14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000403897 GT:AD:DP:GQ:PL 1/1:0,10:10:30.09:400,30,0
2 31416305 rs11124249 C T 91.60 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.53;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CAPN14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000403897 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:124,9,0
2 31416309 rs11124250 A G 89.85 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.95;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CAPN14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000403897 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:122,9,0
2 31416317 rs12619774 C G 96.21 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CAPN14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000403897 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:128,9,0
2 31419934 rs6543617 A G 48.77 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CAPN14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000403897 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:80,6,0
2 31423245 rs62143037 G C 73.46 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=0.55;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.3;QD=10.49;ReadPosRankSum=-1.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CAPN14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000403897 GT:AD:DP:GQ:PL 0/1:3,4:7:88.85:103,0,89
2 31424885 rs11692905 C T 319.32 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.93;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CAPN14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000403897 GT:AD:DP:GQ:PL 1/1:0,10:10:27.09:352,27,0
2 31428541 rs11687767 A G 31.43 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=15.71;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CAPN14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000403897 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:63,6,0
2 31457817 rs2236170 T C 196.78 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.8;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EHD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000322054 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:230,18,0
2 31467079 rs2295471 G A 578.33 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.02;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EHD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000322054 GT:AD:DP:GQ:PL 1/1:0,17:17:45.15:611,45,0
2 31467351 rs2295473 T A 658.02 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.56;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EHD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000322054 GT:AD:DP:GQ:PL 1/1:0,18:18:54.17:691,54,0
2 31483890 rs13028669 T C 585.15 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.66;MQ0=0;QD=29.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EHD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000322054 GT:AD:DP:GQ:PL 1/1:0,20:20:54.13:618,54,0
2 31484334 rs654650 G A 1580.68 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9916;MQ=59.55;MQ0=0;QD=30.99;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EHD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000322054 GT:AD:DP:GQ:PL 1/1:0,51:51:99:1614,126,0
2 31488965 rs619002 C T 644.26 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.28;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EHD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000322054 GT:AD:DP:GQ:PL 1/1:0,22:22:51.17:677,51,0
2 31489727 rs644926 T C 30.90 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=15.45;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EHD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000322054 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:62,6,0
2 31562412 rs207440 C T 601.40 PASS AB=0.593;AC=1;AF=0.50;AN=2;BaseQRankSum=1.049;DB;DP=59;Dels=0.0;FS=2.583;HRun=1;HaplotypeScore=5.1856;MQ=59.61;MQ0=0;MQRankSum=0.62;QD=10.19;ReadPosRankSum=-0.715;SNPEFF_AMINO_ACID_CHANGE=E1239;SNPEFF_CODON_CHANGE=gaG/gaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_31562355_31562543;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XDH;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000379416 GT:AD:DP:GQ:PL 0/1:35,24:59:99:631,0,1008
2 31565360 rs12614330 C T 34.41 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9578;MQ=60.0;MQ0=0;MQRankSum=0.72;QD=5.74;ReadPosRankSum=0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XDH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000379416 GT:AD:DP:GQ:PL 0/1:4,2:6:64.40:64,0,144
2 31567298 rs207452 T G 85.17 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.39;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XDH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000379416 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:117,9,0
2 31567743 rs566224 T C 77.99 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XDH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000379416 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:110,9,0
2 31569471 rs7599175 A G 548.88 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.59;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XDH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000379416 GT:AD:DP:GQ:PL 1/1:0,15:15:45.15:582,45,0
2 31570115 rs1366812 G C 48.77 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XDH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000379416 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:80,6,0
2 31570376 rs1366813 T C 1427.87 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.46;MQ0=0;QD=33.21;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XDH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000379416 GT:AD:DP:GQ:PL 1/1:0,43:43:99:1461,114,0
2 31570626 rs4952083 C T 390.10 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=57.87;MQ0=0;QD=35.46;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XDH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000379416 GT:AD:DP:GQ:PL 1/1:0,11:11:33.11:423,33,0
2 31570631 rs4952084 A G 326.09 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.66;MQ0=0;QD=32.61;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XDH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000379416 GT:AD:DP:GQ:PL 1/1:0,10:10:27.09:359,27,0
2 31570689 rs4952085 G A 340.99 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XDH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000379416 GT:AD:DP:GQ:PL 1/1:0,10:10:27.09:374,27,0
2 31571241 rs13415401 G C 1097.11 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.5;MQ0=0;QD=35.39;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XDH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000379416 GT:AD:DP:GQ:PL 1/1:0,31:31:84.27:1130,84,0
2 31571786 rs1884725 A G 1109.37 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.98;SNPEFF_AMINO_ACID_CHANGE=F1010;SNPEFF_CODON_CHANGE=ttT/ttC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_31571765_31571846;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XDH;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000379416 GT:AD:DP:GQ:PL 1/1:0,37:37:87.26:1142,87,0
2 31572398 rs1429374 A G 442.90 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=61.78;MQ0=0;QD=36.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XDH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000379416 GT:AD:DP:GQ:PL 1/1:0,12:12:36.12:476,36,0
2 31572482 rs11408029 T TG 1425.77 PASS AC=2;AF=1.00;AN=2;DB;DP=39;FS=0.0;HRun=4;HaplotypeScore=95.8879;IndelType=I;MQ=61.34;MQ0=0;QD=36.56;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XDH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000379416 GT:AD:DP:GQ:PL 1/1:2,37:39:99:1468,108,0
2 31587235 rs1018505 G A 176.82 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.248;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.573;QD=19.65;ReadPosRankSum=-0.573;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XDH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000379416 GT:AD:DP:GQ:PL 0/1:3,6:9:93.36:207,0,93
2 31588288 rs2365842 T A 651.49 PASS AB=0.585;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.973;DB;DP=53;Dels=0.0;FS=3.031;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.324;QD=12.29;ReadPosRankSum=-0.139;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XDH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000379416 GT:AD:DP:GQ:PL 0/1:31,22:53:99:681,0,968
2 31588561 rs1429376 A C 173.74 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.355;DB;DP=15;Dels=0.0;FS=3.979;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.53;QD=11.58;ReadPosRankSum=-0.177;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XDH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000379416 GT:AD:DP:GQ:PL 0/1:9,6:15:99:204,0,321
2 31589847 rs2295475 G A 1059.46 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=0.545;DB;DP=77;Dels=0.0;FS=17.672;HRun=1;HaplotypeScore=1.445;MQ=59.7;MQ0=0;MQRankSum=1.645;QD=13.76;ReadPosRankSum=-1.792;SNPEFF_AMINO_ACID_CHANGE=I737;SNPEFF_CODON_CHANGE=atC/atT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_31589736_31589860;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XDH;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000379416 GT:AD:DP:GQ:PL 0/1:44,33:77:99:1089,0,1269
2 31590785 rs761926 C G 1987.12 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=0.174;DB;DP=108;Dels=0.0;FS=0.927;HRun=0;HaplotypeScore=1.5592;MQ=59.79;MQ0=0;MQRankSum=0.542;QD=18.4;ReadPosRankSum=-0.037;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XDH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000379416 GT:AD:DP:GQ:PL 0/1:45,63:108:99:2017,0,1511
2 31598485 rs2070294 T C 83.63 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.219;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=9.29;ReadPosRankSum=-0.361;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XDH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000379416 GT:AD:DP:GQ:PL 0/1:5,4:9:99:114,0,179
2 31600146 rs10187719 T C 363.56 PASS AB=0.579;AC=1;AF=0.50;AN=2;BaseQRankSum=1.937;DB;DP=38;Dels=0.0;FS=1.994;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.222;QD=9.57;ReadPosRankSum=0.133;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XDH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000379416 GT:AD:DP:GQ:PL 0/1:22,16:38:99:394,0,713
2 31609448 rs477626 A C 1053.11 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.97;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XDH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000379416 GT:AD:DP:GQ:PL 1/1:0,31:31:81.26:1086,81,0
2 31611029 rs2073316 G A 258.80 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=3.165;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.627;QD=18.49;ReadPosRankSum=-1.222;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XDH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000379416 GT:AD:DP:GQ:PL 0/1:6,8:14:99:289,0,171
2 31628705 rs1366814 T G 670.45 PASS AB=0.276;AC=1;AF=0.50;AN=2;BaseQRankSum=0.561;DB;DP=29;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.55;MQ0=0;MQRankSum=0.22;QD=23.12;ReadPosRankSum=0.171;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XDH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000379416 GT:AD:DP:GQ:PL 0/1:8,21:29:99:700,0,234
2 31805619 rs619857 T C 415.95 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.43;MQ0=0;QD=34.66;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=SRD5A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233139 GT:AD:DP:GQ:PL 1/1:0,12:12:33.11:449,33,0
2 31805675 rs522638 A G 605.99 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.3;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=SRD5A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233139 GT:AD:DP:GQ:PL 1/1:0,20:20:51.16:639,51,0
2 31805706 rs523349 G C 564.26 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.78;MQ0=0;QD=29.7;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=SRD5A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233139 GT:AD:DP:GQ:PL 1/1:0,19:19:48.14:597,48,0
2 31805880 rs77598987 A AG 987.90 PASS AC=2;AF=1.00;AN=2;DB;DP=26;FS=0.0;HRun=2;HaplotypeScore=84.6033;IndelType=I;MQ=58.2;MQ0=0;QD=38.0;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=SRD5A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233139 GT:AD:DP:GQ:PL 1/1:1,25:26:72.24:1030,72,0
2 31806031 rs632148 C G 233.41 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.93;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=SRD5A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000405650 GT:AD:DP:GQ:PL 1/1:0,9:9:21.06:266,21,0
2 31959689 rs6543638 A T 93.19 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.06;SNPEFF_EFFECT=INTERGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:125,9,0
2 32168123 rs41280625 C T 32.19 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=16.1;SNPEFF_EFFECT=INTRAGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=DPY30;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 1/1:0,2:2:5.99:63,6,0
2 32289031 rs121908515 C T 266.93 PASS AB=0.542;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.463;DB;DP=24;Dels=0.0;FS=10.837;HRun=1;HaplotypeScore=0.0;MQ=59.03;MQ0=0;MQRankSum=-0.406;QD=11.12;ReadPosRankSum=0.927;SNPEFF_AMINO_ACID_CHANGE=S44L;SNPEFF_CODON_CHANGE=tCg/tTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_32288776_32289315;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPAST;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000315285 GT:AD:DP:GQ:PL 0/1:13,11:24:99:297,0,446
2 32369901 rs2365556 T C 86.56 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.85;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPAST;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315285 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:119,9,0
2 32418808 rs212751 T A 198.38 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.06;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC30A6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000457724 GT:AD:DP:GQ:PL 1/1:0,6:6:18.05:231,18,0
2 32432197 rs10172468 A C 49.30 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.65;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC30A6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282587 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
2 32434701 rs212685 A G 884.54 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.33;MQ0=0;QD=31.59;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC30A6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282587 GT:AD:DP:GQ:PL 1/1:0,28:28:75.21:918,75,0
2 32434869 rs212686 C T 51.22 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.61;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC30A6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282587 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
2 32449871 rs3832075 AT A 122.63 PASS AC=2;AF=1.00;AN=2;DB;DP=26;FS=0.0;HRun=8;HaplotypeScore=306.9019;IndelType=D;MQ=47.12;MQ0=0;QD=4.72;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC30A6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282587 GT:AD:DP:GQ:PL 1/1:6,19:26:51.50:165,51,0
2 32460348 rs212714 A G 529.38 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9995;MQ=60.0;MQ0=0;QD=31.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NLRC4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342905 GT:AD:DP:GQ:PL 1/1:0,17:17:48.14:562,48,0
2 32461493 rs55638726 T TC 438.04 PASS AC=2;AF=1.00;AN=2;DB;DP=10;FS=0.0;HRun=0;HaplotypeScore=18.1168;IndelType=I;MQ=57.66;MQ0=0;QD=43.8;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NLRC4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342905 GT:AD:DP:GQ:PL 1/1:0,10:10:30.10:480,30,0
2 32466029 rs212721 A G 315.73 PASS AB=0.565;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.837;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.403;QD=13.73;ReadPosRankSum=0.217;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NLRC4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342905 GT:AD:DP:GQ:PL 0/1:13,10:23:99:346,0,460
2 32475109 rs455060 G A 1815.37 PASS AB=0.446;AC=1;AF=0.50;AN=2;BaseQRankSum=0.015;DB;DP=112;Dels=0.0;FS=0.723;HRun=0;HaplotypeScore=1.8664;MQ=59.21;MQ0=0;MQRankSum=1.313;QD=16.21;ReadPosRankSum=0.216;SNPEFF_AMINO_ACID_CHANGE=A608;SNPEFF_CODON_CHANGE=gcC/gcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_32474676_32476670;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NLRC4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000360906 GT:AD:DP:GQ:PL 0/1:50,62:112:99:1845,0,1425
2 32476390 rs408813 T G 575.66 PASS AB=0.661;AC=1;AF=0.50;AN=2;BaseQRankSum=1.513;DB;DP=59;Dels=0.0;FS=3.979;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-2.56;QD=9.76;ReadPosRankSum=-0.483;SNPEFF_AMINO_ACID_CHANGE=R181;SNPEFF_CODON_CHANGE=cgA/cgC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_32474676_32476670;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NLRC4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000360906 GT:AD:DP:GQ:PL 0/1:39,20:59:99:606,0,1144
2 32481793 rs142284456 AT A 468.94 PASS AB=0.679;AC=1;AF=0.50;AN=2;BaseQRankSum=4.96;DB;DP=36;FS=1.5;HRun=3;HaplotypeScore=160.7131;IndelType=D;MQ=60.6;MQ0=0;MQRankSum=0.413;QD=13.03;ReadPosRankSum=0.172;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NLRC4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342905 GT:AD:DP:GQ:PL 0/1:19,17:36:99:508,0,626
2 32602450 rs1991626 G A 132.38 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.09;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BIRC6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421745 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:165,12,0
2 32620888 rs10172510 G A 128.39 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BIRC6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421745 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:161,12,0
2 32661046 rs182470844 G C 41.52 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=13.84;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BIRC6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421745 GT:AD:DP:GQ:PL 0/1:1,2:3:32.73:72,0,33
2 32666411 rs41291167 T C 400.34 PASS AB=0.595;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.356;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.108;QD=10.82;ReadPosRankSum=-1.129;SNPEFF_AMINO_ACID_CHANGE=N1275;SNPEFF_CODON_CHANGE=aaT/aaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_32666397_32666530;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BIRC6;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000421745 GT:AD:DP:GQ:PL 0/1:22,15:37:99:430,0,736
2 32667058 rs55734616 C A 1709.07 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.4942;MQ=58.48;MQ0=0;QD=37.15;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BIRC6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000444173 GT:AD:DP:GQ:PL 1/1:0,46:46:99:1742,132,0
2 32667061 rs60955793 T A 1650.09 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=58.45;MQ0=0;QD=36.67;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BIRC6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000444173 GT:AD:DP:GQ:PL 1/1:1,44:45:99:1683,129,0
2 32667182 rs60197615 G C 2817.90 PASS AC=2;AF=1.00;AN=2;DB;DP=81;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.48;MQ0=0;QD=34.79;SNPEFF_AMINO_ACID_CHANGE=V1332L;SNPEFF_CODON_CHANGE=Gtt/Ctt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_32667133_32667294;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BIRC6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000421745 GT:AD:DP:GQ:PL 1/1:0,81:81:99:2851,208,0
2 32696502 rs4952214 T G 82.08 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.44;MQ0=0;QD=27.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BIRC6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421745 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:114,9,0
2 32706579 rs9646977 T A 1551.81 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.78;MQ0=0;QD=35.27;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BIRC6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421745 GT:AD:DP:GQ:PL 1/1:0,44:44:99:1585,123,0
2 32712875 rs2366891 A C 2983.72 PASS AC=2;AF=1.00;AN=2;DB;DP=81;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.85;MQ0=0;QD=36.84;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BIRC6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421745 GT:AD:DP:GQ:PL 1/1:0,81:81:99:3017,226,0
2 32713045 rs4524166 A C 80.72 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=51.77;MQ0=0;QD=26.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BIRC6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421745 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:113,9,0
2 32733341 . TCC T 88.19 QDFilter2 AB=0.814;AC=1;AF=0.50;AN=2;BaseQRankSum=4.373;DP=79;FS=19.784;HRun=2;HaplotypeScore=736.9973;IndelType=D;MQ=41.95;MQ0=0;MQRankSum=-2.22;QD=1.12;ReadPosRankSum=-1.305;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BIRC6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000497023 GT:AD:DP:GQ:PL 0/1:61,18:79:99:127,0,1124
2 32749880 rs2710609 C T 484.90 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.85;MQ0=0;QD=32.33;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BIRC6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421745 GT:AD:DP:GQ:PL 1/1:0,15:15:42.12:518,42,0
2 32749890 rs2710610 C T 174.69 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=54.32;MQ0=0;QD=10.28;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BIRC6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421745 GT:AD:DP:GQ:PL 1/1:0,16:17:23.96:208,24,0
2 32749893 rs2710611 A T 210.48 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=54.65;MQ0=0;QD=11.69;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BIRC6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421745 GT:AD:DP:GQ:PL 1/1:0,18:18:26.96:243,27,0
2 32749903 rs2710612 T C 714.62 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=55.86;MQ0=0;QD=31.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BIRC6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421745 GT:AD:DP:GQ:PL 1/1:0,23:23:60.16:748,60,0
2 32757201 rs138437601 C CGTGTGTGTGTGT 969.84 PASS AC=2;AF=1.00;AN=2;DB;DP=41;FS=0.0;HRun=0;HaplotypeScore=376.7025;IndelType=I;MQ=50.32;MQ0=1;QD=23.09;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BIRC6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421745 GT:AD:DP:GQ:PL 1/1:35,4:41:36.54:1012,37,0
2 32768140 rs2710631 A T 287.67 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.96;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BIRC6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421745 GT:AD:DP:GQ:PL 1/1:0,9:9:24.08:321,24,0
2 32836362 rs13035097 A G 182.42 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.047;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.259;QD=15.2;ReadPosRankSum=-0.583;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BIRC6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421745 GT:AD:DP:GQ:PL 0/1:6,6:12:99:212,0,189
2 32855615 rs2710623 A G 2245.59 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=60.0;MQ0=0;QD=34.02;SNPEFF_AMINO_ACID_CHANGE=L38;SNPEFF_CODON_CHANGE=ctA/ctG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_32855590_32855767;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC27;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000317907 GT:AD:DP:GQ:PL 1/1:0,64:66:99:2279,169,0
2 32959024 rs1551177 T C 500.73 PASS AB=0.433;AC=1;AF=0.50;AN=2;BaseQRankSum=0.753;DB;DP=30;Dels=0.0;FS=1.744;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.711;QD=16.69;ReadPosRankSum=1.465;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC27;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000454690 GT:AD:DP:GQ:PL 0/1:13,17:30:99:531,0,347
2 32961745 rs10200333 T A 1205.40 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.46;MQ0=0;QD=28.03;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC27;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000454690 GT:AD:DP:GQ:PL 1/1:0,43:43:99:1238,99,0
2 32983299 rs71407470 TA T 277.14 PASS AB=0.628;AC=1;AF=0.50;AN=2;BaseQRankSum=3.399;DB;DP=27;FS=0.0;HRun=11;HaplotypeScore=86.5761;IndelType=D;MQ=59.14;MQ0=0;MQRankSum=-0.501;QD=10.26;ReadPosRankSum=1.344;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC27;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317907 GT:AD:DP:GQ:PL 0/1:11,16:27:99:316,0,241
2 33036324 rs3731578 G A 34.42 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=5.74;ReadPosRankSum=-0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC27;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317907 GT:AD:DP:GQ:PL 0/1:4,2:6:64.41:64,0,129
2 33045732 rs6543677 T C 173.89 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.78;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC27;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317907 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:207,15,0
2 33335508 rs11124306 C G 311.90 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.66;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LTBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354476 GT:AD:DP:GQ:PL 1/1:0,9:9:27.08:345,27,0
2 33335818 rs17012574 C T 864.30 PASS AB=0.434;AC=1;AF=0.50;AN=2;BaseQRankSum=4.316;DB;DP=53;Dels=0.0;FS=13.966;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.727;QD=16.31;ReadPosRankSum=0.063;SNPEFF_AMINO_ACID_CHANGE=L345;SNPEFF_CODON_CHANGE=Ctg/Ttg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_33335649_33335818;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LTBP1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000354476 GT:AD:DP:GQ:PL 0/1:23,30:53:99:894,0,666
2 33335847 rs218226 C T 467.41 PASS AB=0.61;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.403;DB;DP=41;Dels=0.0;FS=3.249;HRun=0;HaplotypeScore=0.9998;MQ=60.0;MQ0=0;MQRankSum=0.2;QD=11.4;ReadPosRankSum=-0.013;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LTBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354476 GT:AD:DP:GQ:PL 0/1:25,16:41:99:497,0,795
2 33359457 rs12620839 C T 589.95 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.63;MQ0=0;QD=34.7;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LTBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354476 GT:AD:DP:GQ:PL 1/1:0,17:17:48.10:623,48,0
2 33360126 rs1545550 A G 35.68 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=11.89;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LTBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354476 GT:AD:DP:GQ:PL 1/1:0,3:3:6.01:67,6,0
2 33412077 rs1065324 G A 682.52 PASS AB=0.45;AC=1;AF=0.50;AN=2;BaseQRankSum=0.675;DB;DP=40;Dels=0.0;FS=5.155;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.029;QD=17.06;ReadPosRankSum=0.675;SNPEFF_AMINO_ACID_CHANGE=A126;SNPEFF_CODON_CHANGE=gcG/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_33411923_33412147;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LTBP1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000390003 GT:AD:DP:GQ:PL 0/1:18,22:40:99:713,0,472
2 33412342 rs6707911 G A 42.27 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=14.09;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LTBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354476 GT:AD:DP:GQ:PL 0/1:1,2:3:33.20:72,0,33
2 33413640 rs6712473 G T 552.77 PASS AB=0.586;AC=1;AF=0.50;AN=2;BaseQRankSum=1.792;DB;DP=58;Dels=0.0;FS=5.43;HRun=2;HaplotypeScore=2.7759;MQ=57.57;MQ0=0;MQRankSum=1.239;QD=9.53;ReadPosRankSum=-2.344;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LTBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354476 GT:AD:DP:GQ:PL 0/1:34,24:58:99:583,0,1103
2 33413949 rs4542826 G A 857.28 PASS AB=0.53;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.107;DB;DP=66;Dels=0.0;FS=2.834;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.927;QD=12.99;ReadPosRankSum=-2.57;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LTBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000432635 GT:AD:DP:GQ:PL 0/1:35,31:66:99:887,0,1123
2 33414009 rs3922572 T A 694.80 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=8;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.96;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LTBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000432635 GT:AD:DP:GQ:PL 1/1:0,29:29:69.16:728,69,0
2 33442549 rs2290449 G A 262.02 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.265;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.06;QD=14.56;ReadPosRankSum=0.883;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LTBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354476 GT:AD:DP:GQ:PL 0/1:9,9:18:99:292,0,311
2 33447023 rs7608535 G A 70.82 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.55;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9933;MQ=60.0;MQ0=0;MQRankSum=-0.55;QD=10.12;ReadPosRankSum=0.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LTBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354476 GT:AD:DP:GQ:PL 0/1:4,3:7:99:101,0,135
2 33447202 rs2290448 C T 433.02 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.583;DB;DP=35;Dels=0.0;FS=5.138;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=-0.517;QD=12.37;ReadPosRankSum=-0.183;SNPEFF_AMINO_ACID_CHANGE=N294;SNPEFF_CODON_CHANGE=aaC/aaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_33447147_33447218;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LTBP1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000390003 GT:AD:DP:GQ:PL 0/1:20,15:35:99:463,0,605
2 33500734 rs1814548 A G 109.71 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=0.72;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.72;QD=15.67;ReadPosRankSum=-1.38;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LTBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000413303 GT:AD:DP:GQ:PL 0/1:3,4:7:54.73:140,0,55
2 33525382 rs935996 A C 100.35 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.307;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9933;MQ=60.0;MQ0=0;MQRankSum=0.729;QD=11.15;ReadPosRankSum=1.159;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LTBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272273 GT:AD:DP:GQ:PL 0/1:5,4:9:99:130,0,181
2 33526382 rs6735659 T G 41.96 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.026;QD=10.49;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LTBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272273 GT:AD:DP:GQ:PL 0/1:2,2:4:67.99:72,0,68
2 33540138 rs2276591 G A 123 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.266;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.796;QD=8.2;ReadPosRankSum=-0.184;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LTBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272273 GT:AD:DP:GQ:PL 0/1:10,5:15:99:153,0,369
2 33540172 rs111618527 A AT 381.30 PASS AB=0.674;AC=1;AF=0.50;AN=2;BaseQRankSum=2.16;DB;DP=29;FS=4.821;HRun=7;HaplotypeScore=104.1076;IndelType=I;MQ=59.2;MQ0=0;MQRankSum=-0.327;QD=13.15;ReadPosRankSum=-0.546;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LTBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272273 GT:AD:DP:GQ:PL 0/1:15,14:29:99:420,0,347
2 33540248 rs1058840 G A 579.92 PASS AB=0.452;AC=1;AF=0.50;AN=2;BaseQRankSum=0.985;DB;DP=42;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=58.44;MQ0=0;MQRankSum=-0.793;QD=13.81;ReadPosRankSum=0.711;SNPEFF_AMINO_ACID_CHANGE=P1214;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_33540211_33540336;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LTBP1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000404816 GT:AD:DP:GQ:PL 0/1:19,23:42:99:610,0,534
2 33568191 rs5024712 T C 93.84 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.38;QD=15.64;ReadPosRankSum=-1.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LTBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272273 GT:AD:DP:GQ:PL 0/1:2,4:6:66.41:124,0,66
2 33572555 rs6706620 G A 2148.76 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.66;MQ0=0;QD=32.07;SNPEFF_AMINO_ACID_CHANGE=Q1000;SNPEFF_CODON_CHANGE=caG/caA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_33572434_33572577;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LTBP1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000407925 GT:AD:DP:GQ:PL 1/1:0,67:67:99:2182,162,0
2 33585796 rs4422143 T C 1564.08 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=59.46;MQ0=0;QD=30.67;SNPEFF_AMINO_ACID_CHANGE=V1010A;SNPEFF_CODON_CHANGE=gTg/gCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_33585664_33585846;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LTBP1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000418533 GT:AD:DP:GQ:PL 1/1:0,51:51:99:1597,132,0
2 33586464 rs66629347 C CT 134.81 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.747;DB;DP=16;FS=0.0;HRun=14;HaplotypeScore=120.9432;IndelType=I;MQ=58.46;MQ0=0;MQRankSum=0.747;QD=8.43;ReadPosRankSum=-0.747;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LTBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272273 GT:AD:DP:GQ:PL 1/1:7,8:16:17.17:177,17,0
2 33614554 rs6749614 G A 118.96 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.38;QD=19.83;ReadPosRankSum=0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LTBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272273 GT:AD:DP:GQ:PL 0/1:2,4:6:27.60:149,0,28
2 33622448 rs2367734 T C 433.66 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.2;MQ0=0;QD=33.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LTBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272273 GT:AD:DP:GQ:PL 1/1:0,13:13:36.12:467,36,0
2 33622475 rs12053346 T C 181.13 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.62;MQ0=0;QD=25.88;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LTBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272273 GT:AD:DP:GQ:PL 1/1:0,7:7:18.05:214,18,0
2 33623306 rs2034693 C T 52.64 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.054;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.6649;MQ=60.0;MQ0=0;MQRankSum=-0.248;QD=5.85;ReadPosRankSum=-0.573;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LTBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272273 GT:AD:DP:GQ:PL 0/1:6,3:9:82.64:83,0,228
2 33623387 rs624060 A G 1001.16 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.32;MQ0=0;QD=25.67;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LTBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272273 GT:AD:DP:GQ:PL 1/1:0,39:39:99:1034,105,0
2 33623388 . T C 1012.89 PASS AC=2;AF=1.00;AN=2;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.32;MQ0=0;QD=25.97;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LTBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272273 GT:AD:DP:GQ:PL 1/1:0,39:39:99:1046,105,0
2 33623720 rs8970 A G 79.75 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=19.94;ReadPosRankSum=0.727;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LTBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272273 GT:AD:DP:GQ:PL 0/1:1,3:4:30.19:110,0,30
2 33623734 rs622716 A G 46.24 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.12;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LTBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272273 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:77,6,0
2 33741470 rs4233918 T C 187.82 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=1.932;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.932;QD=17.07;ReadPosRankSum=0.717;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RASGRP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000497723 GT:AD:DP:GQ:PL 0/1:5,6:11:99:218,0,156
2 33744958 rs7597095 C T 1277.26 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.185;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.78;MQ0=0;MQRankSum=-1.641;QD=33.61;ReadPosRankSum=-0.821;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RASGRP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000425210 GT:AD:DP:GQ:PL 1/1:1,37:38:66.74:1310,67,0
2 33745208 rs2305576 T C 267.29 PASS AB=0.231;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.451;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9916;MQ=58.2;MQ0=0;MQRankSum=-0.254;QD=20.56;ReadPosRankSum=-0.085;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RASGRP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000425210 GT:AD:DP:GQ:PL 0/1:3,10:13:80.33:297,0,80
2 33745336 rs2305575 T C 38.78 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=7.76;ReadPosRankSum=0.358;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RASGRP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000425210 GT:AD:DP:GQ:PL 0/1:2,3:5:68.77:69,0,72
2 33746806 rs7565568 T A 155.95 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.99;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RASGRP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000423159 GT:AD:DP:GQ:PL 1/1:0,6:6:15.04:189,15,0
2 33747285 rs2305573 G A 1846.97 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9983;MQ=59.61;MQ0=0;QD=38.48;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RASGRP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000423159 GT:AD:DP:GQ:PL 1/1:0,48:48:99:1880,144,0
2 33748913 rs6735997 A G 1453.89 PASS AB=0.494;AC=1;AF=0.50;AN=2;BaseQRankSum=2.023;DB;DP=90;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=59.49;MQ0=0;MQRankSum=-0.209;QD=16.15;ReadPosRankSum=0.111;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RASGRP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000423159 GT:AD:DP:GQ:PL 0/1:44,45:90:99:1484,0,1490
2 33752152 rs10189430 G T 504.96 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.117;DB;DP=38;Dels=0.0;FS=7.454;HRun=1;HaplotypeScore=0.0;MQ=59.51;MQ0=0;MQRankSum=1.489;QD=13.29;ReadPosRankSum=0.175;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RASGRP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000437184 GT:AD:DP:GQ:PL 0/1:19,19:38:99:535,0,616
2 33759395 rs35933402 C T 780.11 PASS AB=0.458;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.403;DB;DP=49;Dels=0.0;FS=2.738;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=0.569;QD=15.92;ReadPosRankSum=0.486;SNPEFF_AMINO_ACID_CHANGE=S363;SNPEFF_CODON_CHANGE=tcC/tcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_33759390_33759467;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RASGRP3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000402538 GT:AD:DP:GQ:PL 0/1:22,26:49:99:810,0,703
2 33759563 rs74326828 G A 405.14 PASS AB=0.391;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.031;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.598;QD=17.61;ReadPosRankSum=0.724;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RASGRP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477927 GT:AD:DP:GQ:PL 0/1:9,14:23:99:435,0,316
2 33764141 . G GT 338.50 PASS AB=0.68;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.039;DP=34;FS=3.135;HRun=10;HaplotypeScore=124.3045;IndelType=I;MQ=58.07;MQ0=0;MQRankSum=1.02;QD=9.96;ReadPosRankSum=-2.228;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RASGRP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000402538 GT:AD:DP:GQ:PL 0/1:18,16:34:99:378,0,323
2 33784696 rs17598067 G A 672.56 PASS AB=0.559;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.134;DB;DP=59;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.68;MQ0=0;MQRankSum=0.039;QD=11.4;ReadPosRankSum=0.211;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RASGRP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000402538 GT:AD:DP:GQ:PL 0/1:33,26:59:99:703,0,999
2 33787976 rs10572554 CCTAA C 245.93 PASS AC=2;AF=1.00;AN=2;DB;DP=8;FS=0.0;HRun=0;HaplotypeScore=43.2501;IndelType=D;MQ=48.82;MQ0=0;QD=30.74;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RASGRP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000402538 GT:AD:DP:GQ:PL 1/1:2,6:8:18.05:288,18,0
2 33811516 rs935625 C G 682.37 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.12;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM98A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000498340 GT:AD:DP:GQ:PL 1/1:0,20:20:60.18:715,60,0
2 33952022 rs4670913 C A 238.96 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.87;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MYADML;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491596 GT:AD:DP:GQ:PL 1/1:0,8:8:21.06:272,21,0
2 33952055 rs2290101 C G 413.07 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.77;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MYADML;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491596 GT:AD:DP:GQ:PL 1/1:0,13:13:36.11:446,36,0
2 33952413 rs4477896 T C 1023.76 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.17;MQ0=0;QD=36.56;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AC009499.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366209 GT:AD:DP:GQ:PL 1/1:0,28:28:78.26:1057,78,0
2 33952456 rs2367810 C G 970.66 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.36;MQ0=0;QD=26.96;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AC009499.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366209 GT:AD:DP:GQ:PL 1/1:0,36:36:75.24:1004,75,0
2 33952621 rs11684598 G A 238.73 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=0.556;DB;DP=15;Dels=0.0;FS=2.027;HRun=0;HaplotypeScore=0.0;MQ=56.85;MQ0=0;MQRankSum=0.872;QD=15.92;ReadPosRankSum=0.993;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AC009499.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366209 GT:AD:DP:GQ:PL 0/1:7,8:15:99:269,0,173
2 36605304 rs4670546 G A 34.92 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=6.98;ReadPosRankSum=-1.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRIM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000280527 GT:AD:DP:GQ:PL 0/1:3,2:5:64.91:65,0,108
2 36605417 rs4670547 A G 758.41 PASS AB=0.469;AC=1;AF=0.50;AN=2;BaseQRankSum=3.155;DB;DP=49;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9578;MQ=60.0;MQ0=0;MQRankSum=0.471;QD=15.48;ReadPosRankSum=-0.13;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRIM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000280527 GT:AD:DP:GQ:PL 0/1:23,26:49:99:788,0,725
2 36605585 rs4670548 A G 1742.86 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.86;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRIM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000280527 GT:AD:DP:GQ:PL 1/1:0,49:50:99:1776,132,0
2 36605676 rs111480313 A AT 118.51 PASS AB=0.684;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.932;DB;DP=13;FS=0.0;HRun=10;HaplotypeScore=35.8018;IndelType=I;MQ=60.83;MQ0=0;MQRankSum=-0.466;QD=9.12;ReadPosRankSum=-1.186;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRIM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000280527 GT:AD:DP:GQ:PL 0/1:7,6:13:89.90:158,0,90
2 36668219 rs2049367 C A 110.24 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=15.75;ReadPosRankSum=-0.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRIM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000280527 GT:AD:DP:GQ:PL 0/1:3,4:7:95.24:140,0,95
2 36668395 rs2276673 T A 1108.09 PASS AB=0.406;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.407;DB;DP=69;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=60.0;MQ0=0;MQRankSum=-1.576;QD=16.06;ReadPosRankSum=-2.194;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRIM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000280527 GT:AD:DP:GQ:PL 0/1:28,41:69:99:1138,0,775
2 36669645 rs17018798 T C 458.83 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=3.37;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9916;MQ=58.05;MQ0=0;MQRankSum=1.039;QD=19.12;ReadPosRankSum=-0.976;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRIM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000280527 GT:AD:DP:GQ:PL 0/1:9,15:24:99:489,0,247
2 36669670 rs3821157 C A 529.49 PASS AB=0.484;AC=1;AF=0.50;AN=2;BaseQRankSum=1.482;DB;DP=31;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.25;MQ0=0;MQRankSum=1.917;QD=17.08;ReadPosRankSum=0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRIM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000280527 GT:AD:DP:GQ:PL 0/1:15,16:31:99:559,0,435
2 36670011 rs3732073 T C 281.68 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.636;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.485;QD=20.12;ReadPosRankSum=0.495;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRIM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000280527 GT:AD:DP:GQ:PL 0/1:4,10:14:78.60:312,0,79
2 36691951 rs711252 A C 202.96 PASS AB=0.438;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.387;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=1.059;QD=12.68;ReadPosRankSum=0.635;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRIM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426856 GT:AD:DP:GQ:PL 0/1:7,9:16:99:233,0,247
2 36704144 rs848547 C T 705.51 PASS AB=0.528;AC=1;AF=0.50;AN=2;BaseQRankSum=4.837;DB;DP=53;Dels=0.0;FS=1.323;HRun=0;HaplotypeScore=2.6208;MQ=58.85;MQ0=0;MQRankSum=-0.668;QD=13.31;ReadPosRankSum=-2.361;SNPEFF_AMINO_ACID_CHANGE=T368;SNPEFF_CODON_CHANGE=acC/acT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_36704032_36704214;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRIM1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000280527 GT:AD:DP:GQ:PL 0/1:28,25:53:99:736,0,830
2 36706511 rs711250 G C 103.32 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=0.937;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.55;QD=14.76;ReadPosRankSum=0.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRIM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000280527 GT:AD:DP:GQ:PL 0/1:3,4:7:82.85:133,0,83
2 36739553 rs848526 T C 680.13 PASS AB=0.516;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.23;DB;DP=62;Dels=0.0;FS=5.85;HRun=0;HaplotypeScore=4.5582;MQ=60.0;MQ0=0;MQRankSum=-0.319;QD=10.97;ReadPosRankSum=-1.445;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRIM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000280527 GT:AD:DP:GQ:PL 0/1:32,30:62:99:710,0,967
2 36756288 rs711247 T C 539.54 PASS AB=0.488;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.085;DB;DP=43;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9734;MQ=59.46;MQ0=0;MQRankSum=-0.092;QD=12.55;ReadPosRankSum=0.85;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC007401.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000406220 GT:AD:DP:GQ:PL 0/1:21,22:43:99:570,0,556
2 36779144 rs10180760 T G 554.04 PASS AB=0.394;AC=1;AF=0.50;AN=2;BaseQRankSum=2.855;DB;DP=33;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.8941;MQ=59.3;MQ0=0;MQRankSum=0.203;QD=16.79;ReadPosRankSum=1.676;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRIM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000280527 GT:AD:DP:GQ:PL 0/1:13,20:33:99:584,0,316
2 36782656 rs10178965 G A 1328.97 PASS AB=0.551;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.701;DB;DP=107;Dels=0.0;FS=2.758;HRun=1;HaplotypeScore=0.5784;MQ=59.61;MQ0=0;MQRankSum=0.479;QD=12.42;ReadPosRankSum=-0.003;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRIM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000280527 GT:AD:DP:GQ:PL 0/1:59,48:107:99:1359,0,1840
2 36783111 rs184531471 C A 520.95 PASS AB=0.412;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.557;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.5782;MQ=60.0;MQ0=0;MQRankSum=0.927;QD=14.88;ReadPosRankSum=-0.612;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRIM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000280527 GT:AD:DP:GQ:PL 0/1:14,20:35:99:551,0,389
2 36783127 rs10194100 T C 571.16 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=1.734;DB;DP=35;Dels=0.0;FS=1.456;HRun=0;HaplotypeScore=0.9999;MQ=60.0;MQ0=0;MQRankSum=0.936;QD=16.32;ReadPosRankSum=0.277;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRIM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000280527 GT:AD:DP:GQ:PL 0/1:15,20:35:99:601,0,461
2 36783215 rs10181664 C T 277 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.245;DB;DP=20;Dels=0.0;FS=6.767;HRun=0;HaplotypeScore=0.9867;MQ=60.0;MQ0=0;MQRankSum=0.531;QD=13.85;ReadPosRankSum=-0.776;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRIM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000280527 GT:AD:DP:GQ:PL 0/1:10,10:20:99:307,0,289
2 36805676 rs2075226 A G 1594.01 PASS AB=0.491;AC=1;AF=0.50;AN=2;BaseQRankSum=-6.079;DB;DP=114;Dels=0.0;FS=0.898;HRun=0;HaplotypeScore=0.0;MQ=59.8;MQ0=0;MQRankSum=1.596;QD=13.98;ReadPosRankSum=1.085;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=FEZ2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000305852 GT:AD:DP:GQ:PL 0/1:56,58:114:99:1624,0,1784
2 36806021 rs2072534 G A 1242.24 PASS AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.573;DB;DP=95;Dels=0.0;FS=0.86;HRun=4;HaplotypeScore=0.0;MQ=59.51;MQ0=0;MQRankSum=-0.716;QD=13.08;ReadPosRankSum=2.095;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=FEZ2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000305852 GT:AD:DP:GQ:PL 0/1:50,45:95:99:1272,0,1549
2 36806051 rs2072533 A G 1026.37 PASS AB=0.506;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.232;DB;DP=77;Dels=0.0;FS=2.401;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.44;QD=13.33;ReadPosRankSum=-1.299;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=FEZ2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000305852 GT:AD:DP:GQ:PL 0/1:39,38:77:99:1056,0,1262
2 36808350 rs848638 C T 1726.53 PASS AB=0.442;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.821;DB;DP=95;Dels=0.0;FS=8.778;HRun=1;HaplotypeScore=1.7883;MQ=60.0;MQ0=0;MQRankSum=-0.626;QD=18.17;ReadPosRankSum=0.94;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=FEZ2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000305852 GT:AD:DP:GQ:PL 0/1:42,53:95:99:1757,0,1442
2 36808732 rs848637 T G 67.36 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.231;QD=13.47;ReadPosRankSum=-1.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=FEZ2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357996 GT:AD:DP:GQ:PL 0/1:2,3:5:67.41:97,0,67
2 36810473 rs11691767 G T 1523.63 PASS AB=0.463;AC=1;AF=0.50;AN=2;BaseQRankSum=6.977;DB;DP=108;Dels=0.0;FS=16.545;HRun=2;HaplotypeScore=0.0;MQ=59.4;MQ0=0;MQRankSum=0.212;QD=14.11;ReadPosRankSum=-0.465;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=FEZ2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000305852 GT:AD:DP:GQ:PL 0/1:50,58:108:99:1554,0,1418
2 36810586 rs14291 T C 1571.50 PASS AB=0.573;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.74;DB;DP=131;Dels=0.0;FS=6.71;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.007;QD=12.0;ReadPosRankSum=1.516;SNPEFF_AMINO_ACID_CHANGE=T134;SNPEFF_CODON_CHANGE=acA/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_36810496_36810612;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=FEZ2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000379245 GT:AD:DP:GQ:PL 0/1:75,56:131:99:1601,0,2216
2 36810769 rs848619 T C 99.99 PASS AB=0.692;AC=1;AF=0.50;AN=2;BaseQRankSum=2.392;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.849;QD=7.69;ReadPosRankSum=0.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=FEZ2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000305852 GT:AD:DP:GQ:PL 0/1:9,4:13:99:130,0,327
2 36943338 rs4670597 C G 113.62 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.41;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VIT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000379241 GT:AD:DP:GQ:PL 1/1:0,4:4:12.03:146,12,0
2 36943419 rs4670598 T C 681.88 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.89;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VIT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000379241 GT:AD:DP:GQ:PL 1/1:0,19:19:54.16:715,54,0
2 36986549 rs10179289 A G 33.20 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=16.6;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VIT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000379241 GT:AD:DP:GQ:PL 1/1:0,2:2:6:64,6,0
2 37000797 rs3770784 C G 34.01 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.01;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VIT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000379241 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:65,6,0
2 37000877 rs116154541 A T 254.23 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=0.914;DB;DP=17;Dels=0.0;FS=3.274;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.876;QD=14.95;ReadPosRankSum=0.914;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VIT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000379241 GT:AD:DP:GQ:PL 0/1:8,9:17:99:284,0,235
2 37010574 rs3821147 G A 269.88 PASS AB=0.593;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.232;DB;DP=27;Dels=0.0;FS=1.875;HRun=0;HaplotypeScore=0.8321;MQ=58.27;MQ0=0;MQRankSum=-0.116;QD=10.0;ReadPosRankSum=1.275;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VIT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000379241 GT:AD:DP:GQ:PL 0/1:16,11:27:99:300,0,380
2 37032529 rs75212718 G C 254.14 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=0.597;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.55;MQ0=0;MQRankSum=-2.657;QD=15.88;ReadPosRankSum=-1.681;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VIT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000379241 GT:AD:DP:GQ:PL 0/1:6,10:16:99:284,0,189
2 37077015 rs723674 C A 398.78 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.23;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263918 GT:AD:DP:GQ:PL 1/1:0,12:12:33.10:432,33,0
2 37078095 rs113273997 A AT 406.53 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.574;DB;DP=27;FS=10.792;HRun=12;HaplotypeScore=143.7858;IndelType=I;MQ=52.26;MQ0=0;MQRankSum=-0.052;QD=14.52;ReadPosRankSum=0.366;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263918 GT:AD:DP:GQ:PL 1/1:5,12:27:26.66:449,27,0
2 37082695 rs998321 C T 39.99 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=19.99;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263918 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:71,6,0
2 37088083 rs2540935 C T 48.77 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=16.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263918 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:80,6,0
2 37094945 rs2540923 A G 2168.97 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.9;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000495595 GT:AD:DP:GQ:PL 1/1:0,68:68:99:2202,172,0
2 37095139 rs6752845 G C 360.29 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=0.32;DB;DP=21;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.817;QD=17.16;ReadPosRankSum=1.03;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000495595 GT:AD:DP:GQ:PL 0/1:9,12:21:99:390,0,311
2 37096970 rs2160379 C T 449.91 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.49;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263918 GT:AD:DP:GQ:PL 1/1:0,12:12:36.12:483,36,0
2 37097009 rs2110942 T C 72.36 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.12;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263918 GT:AD:DP:GQ:PL 1/1:0,3:3:9.02:104,9,0
2 37111045 rs2691106 T A 485.90 PASS AB=0.24;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.233;DB;DP=25;Dels=0.0;FS=5.527;HRun=0;HaplotypeScore=1.9787;MQ=60.0;MQ0=0;MQRankSum=1.167;QD=19.44;ReadPosRankSum=-0.367;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263918 GT:AD:DP:GQ:PL 0/1:6,19:25:99:516,0,188
2 37129618 . A ATAAT 2006.45 PASS AC=2;AF=1.00;AN=2;DP=28;FS=0.0;HRun=0;HaplotypeScore=97.077;IndelType=I;MQ=50.05;MQ0=0;QD=71.66;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263918 GT:AD:DP:GQ:PL 1/1:3,24:28:78.27:2048,78,0
2 37215607 rs9636429 G A 46.98 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=11.74;ReadPosRankSum=-0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR5B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233099 GT:AD:DP:GQ:PL 0/1:1,3:4:32.73:77,0,33
2 37217622 rs3796041 C A 49.41 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.7;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR5B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233099 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
2 37234478 rs144903928 TAC T 102.81 PASS AB=0.767;AC=1;AF=0.50;AN=2;BaseQRankSum=2.338;DB;DP=33;FS=3.183;HRun=0;HaplotypeScore=291.2944;IndelType=D;MQ=42.94;MQ0=0;MQRankSum=-2.511;QD=3.12;ReadPosRankSum=-1.588;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR5B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471051 GT:AD:DP:GQ:PL 0/1:23,6:33:99:142,0,426
2 37234519 rs2013223 T C 147.10 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.355;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9916;MQ=45.47;MQ0=0;MQRankSum=1.377;QD=8.17;ReadPosRankSum=-0.666;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR5B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471051 GT:AD:DP:GQ:PL 0/1:10,8:18:99:177,0,132
2 37241050 rs17020125 G A 815.96 PASS AB=0.597;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.822;DB;DP=67;Dels=0.0;FS=2.144;HRun=0;HaplotypeScore=3.3462;MQ=59.66;MQ0=0;MQRankSum=-1.135;QD=12.18;ReadPosRankSum=-0.222;SNPEFF_AMINO_ACID_CHANGE=S1406;SNPEFF_CODON_CHANGE=tcC/tcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_37240984_37241163;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR5B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000233099 GT:AD:DP:GQ:PL 0/1:40,27:67:99:846,0,1293
2 37248015 rs17020136 T C 312 PASS AB=0.476;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.725;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9332;MQ=60.0;MQ0=0;MQRankSum=0.528;QD=14.86;ReadPosRankSum=-0.528;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR5B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233099 GT:AD:DP:GQ:PL 0/1:10,11:21:99:342,0,323
2 37255015 rs2540998 G A 497.37 PASS AB=0.485;AC=1;AF=0.50;AN=2;BaseQRankSum=0.306;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.919;QD=15.07;ReadPosRankSum=1.423;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR5B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233099 GT:AD:DP:GQ:PL 0/1:16,17:33:99:527,0,552
2 37259640 rs9309001 G T 249.31 PASS AB=0.357;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.2;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9933;MQ=60.0;MQ0=0;MQRankSum=-1.467;QD=17.81;ReadPosRankSum=0.8;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR5B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233099 GT:AD:DP:GQ:PL 0/1:5,9:14:99:279,0,155
2 37264935 rs4670650 A T 85.23 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.237;DB;DP=15;Dels=0.0;FS=0.0;HRun=6;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.177;QD=5.68;ReadPosRankSum=-0.884;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR5B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467978 GT:AD:DP:GQ:PL 0/1:9,6:15:99:115,0,336
2 37292890 rs11903252 T G 313.18 PASS AB=0.577;AC=1;AF=0.50;AN=2;BaseQRankSum=1.453;DB;DP=26;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.661;QD=12.05;ReadPosRankSum=-0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR5B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233099 GT:AD:DP:GQ:PL 0/1:15,11:26:99:343,0,501
2 37297329 rs4327218 C G 326.48 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.643;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=58.67;MQ0=0;MQRankSum=-0.084;QD=9.33;ReadPosRankSum=-1.027;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR5B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478810 GT:AD:DP:GQ:PL 0/1:21,14:35:99:356,0,689
2 37302556 rs66519518 GA G 1880.03 PASS AC=2;AF=1.00;AN=2;DB;DP=76;FS=0.0;HRun=9;HaplotypeScore=209.8697;IndelType=D;MQ=60.25;MQ0=0;QD=24.74;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR5B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233099 GT:AD:DP:GQ:PL 1/1:5,71:76:99:1922,210,0
2 37304369 rs17445820 T C 45.74 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR5B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233099 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:77,6,0
2 37306343 rs6743906 G A 610.03 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=58.71;MQ0=0;QD=33.89;SNPEFF_AMINO_ACID_CHANGE=F86;SNPEFF_CODON_CHANGE=ttC/ttT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_37306263_37306474;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR5B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000233099 GT:AD:DP:GQ:PL 1/1:0,18:18:48.16:643,48,0
2 37317869 rs4670654 C T 1424.56 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.61;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC75;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281932 GT:AD:DP:GQ:PL 1/1:0,40:40:99:1458,105,0
2 37318041 rs4670655 A G 81.35 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.12;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC75;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281932 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:113,9,0
2 37319211 rs55823009 A G 1044.03 PASS AB=0.59;AC=1;AF=0.50;AN=2;BaseQRankSum=1.03;DB;DP=100;Dels=0.0;FS=1.695;HRun=0;HaplotypeScore=1.933;MQ=60.0;MQ0=0;MQRankSum=-0.524;QD=10.44;ReadPosRankSum=-0.189;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC75;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281932 GT:AD:DP:GQ:PL 0/1:59,41:100:99:1074,0,1890
2 37322913 rs10153588 A G 51.16 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.58;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC75;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473067 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
2 37373982 rs2307475 A AT 2921.11 PASS AC=2;AF=1.00;AN=2;DB;DP=68;FS=0.0;HRun=0;HaplotypeScore=131.514;IndelType=I;MQ=61.09;MQ0=0;QD=42.96;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EIF2AK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233057 GT:AD:DP:GQ:PL 1/1:2,66:68:99:2963,199,0
2 37402270 rs11569755 C G 200.21 PASS AB=0.619;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.267;DB;DP=21;Dels=0.0;FS=2.199;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.688;QD=9.53;ReadPosRankSum=0.543;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SULT6B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260637 GT:AD:DP:GQ:PL 0/1:13,8:21:99:230,0,390
2 37402373 rs11569758 A G 162.73 PASS AB=0.65;AC=1;AF=0.50;AN=2;BaseQRankSum=0.713;DB;DP=21;Dels=0.0;FS=2.539;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.555;QD=7.75;ReadPosRankSum=-0.634;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SULT6B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260637 GT:AD:DP:GQ:PL 0/1:13,7:21:99:193,0,434
2 37406419 rs10205526 C T 115.26 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.731;QD=23.05;ReadPosRankSum=0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SULT6B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260637 GT:AD:DP:GQ:PL 0/1:1,4:5:27.60:145,0,28
2 37406644 rs10182091 A G 884.99 PASS AB=0.544;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.423;DB;DP=68;Dels=0.0;FS=0.929;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.148;QD=13.01;ReadPosRankSum=-0.316;SNPEFF_AMINO_ACID_CHANGE=Y124;SNPEFF_CODON_CHANGE=taT/taC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_37406601_37406727;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SULT6B1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000260637 GT:AD:DP:GQ:PL 0/1:37,31:68:99:915,0,1109
2 37406680 rs10205833 C G 571.47 PASS AB=0.611;AC=1;AF=0.50;AN=2;BaseQRankSum=1.455;DB;DP=54;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.71;QD=10.58;ReadPosRankSum=0.16;SNPEFF_AMINO_ACID_CHANGE=L112F;SNPEFF_CODON_CHANGE=ttG/ttC;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_37406601_37406727;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SULT6B1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000260637 GT:AD:DP:GQ:PL 0/1:33,21:54:99:601,0,1052
2 37406761 rs4459710 T C 656.46 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=1.873;DB;DP=39;Dels=0.0;FS=3.089;HRun=1;HaplotypeScore=0.0;MQ=59.41;MQ0=0;MQRankSum=-0.578;QD=16.83;ReadPosRankSum=0.521;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SULT6B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260637 GT:AD:DP:GQ:PL 0/1:18,21:39:99:686,0,472
2 37406807 rs2111630 A G 159.32 PASS AB=0.684;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.745;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.78;MQ0=0;MQRankSum=0.658;QD=8.39;ReadPosRankSum=1.798;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SULT6B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260637 GT:AD:DP:GQ:PL 0/1:13,6:19:99:189,0,447
2 37410357 rs6544060 T C 41.96 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=10.49;ReadPosRankSum=1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SULT6B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260637 GT:AD:DP:GQ:PL 0/1:2,2:4:69.84:72,0,70
2 37410537 rs6544061 C T 455.02 PASS AB=0.565;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.126;DB;DP=46;Dels=0.0;FS=1.212;HRun=3;HaplotypeScore=1.5661;MQ=60.0;MQ0=0;MQRankSum=-1.115;QD=9.68;ReadPosRankSum=-0.471;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SULT6B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260637 GT:AD:DP:GQ:PL 0/1:26,20:46:99:485,0,827
2 37414431 rs6724820 A C 371.77 PASS AB=0.381;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.905;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.253;QD=17.7;ReadPosRankSum=-1.485;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SULT6B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000416345 GT:AD:DP:GQ:PL 0/1:8,13:21:99:402,0,270
2 37415496 rs11124566 G C 668.31 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=39.31;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SULT6B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000416345 GT:AD:DP:GQ:PL 1/1:0,17:17:51.17:701,51,0
2 37428743 rs2540973 C T 588.96 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=57.5;MQ0=0;QD=34.64;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEBPZ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234170 GT:AD:DP:GQ:PL 1/1:0,17:17:48.15:622,48,0
2 37438993 rs1137437 G A 386.44 PASS AB=0.552;AC=1;AF=0.50;AN=2;BaseQRankSum=4.363;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.68;QD=13.33;ReadPosRankSum=0.504;SNPEFF_AMINO_ACID_CHANGE=S931;SNPEFF_CODON_CHANGE=agC/agT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_37438986_37439182;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEBPZ;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000234170 GT:AD:DP:GQ:PL 0/1:16,13:29:99:416,0,461
2 37447627 rs67198339 C CA 253.20 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.755;DB;DP=20;FS=1.952;HRun=8;HaplotypeScore=49.4907;IndelType=I;MQ=59.93;MQ0=0;MQRankSum=0.311;QD=12.66;ReadPosRankSum=-0.755;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEBPZ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234170 GT:AD:DP:GQ:PL 0/1:10,10:20:99:292,0,166
2 37456032 rs2098386 C T 1778.08 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.49;MQ0=0;QD=39.51;SNPEFF_AMINO_ACID_CHANGE=V102I;SNPEFF_CODON_CHANGE=Gtt/Att;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_37454687_37456179;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEBPZ;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000234170 GT:AD:DP:GQ:PL 1/1:0,45:45:99:1811,135,0
2 37458711 rs3213745 G A 644.45 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.33;DB;DP=46;Dels=0.0;FS=1.174;HRun=0;HaplotypeScore=0.0;MQ=57.12;MQ0=0;MQRankSum=1.626;QD=14.01;ReadPosRankSum=0.483;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=C2orf56;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000002125 GT:AD:DP:GQ:PL 0/1:23,23:46:99:674,0,698
2 37480249 rs1056021 A G 537.09 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.262;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=58.69;MQ0=0;MQRankSum=-0.72;QD=16.78;ReadPosRankSum=-1.927;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=C2orf56;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000002125 GT:AD:DP:GQ:PL 0/1:12,20:32:99:567,0,411
2 37487723 rs10176949 G A 41.32 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=13.77;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRKD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234179 GT:AD:DP:GQ:PL 0/1:1,2:3:32.73:71,0,33
2 37494591 rs2302650 A G 946.65 PASS AB=0.561;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.922;DB;DP=82;Dels=0.0;FS=4.871;HRun=0;HaplotypeScore=0.0;MQ=59.15;MQ0=0;MQRankSum=-0.93;QD=11.54;ReadPosRankSum=-1.664;SNPEFF_AMINO_ACID_CHANGE=N157;SNPEFF_CODON_CHANGE=aaT/aaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_37494573_37494679;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRKD3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000443977 GT:AD:DP:GQ:PL 0/1:46,36:82:99:977,0,1336
2 37499406 rs2160394 C T 336.98 PASS AB=0.313;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.133;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=1.926;QD=21.06;ReadPosRankSum=-2.152;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRKD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234179 GT:AD:DP:GQ:PL 0/1:5,11:16:99:367,0,166
2 37505108 rs116096831 C T 749.41 PASS AB=0.564;AC=1;AF=0.50;AN=2;BaseQRankSum=2.3;DB;DP=55;Dels=0.0;FS=2.462;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.484;QD=13.63;ReadPosRankSum=1.078;SNPEFF_AMINO_ACID_CHANGE=P399;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_37505009_37505132;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRKD3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000234179 GT:AD:DP:GQ:PL 0/1:31,24:55:99:779,0,863
2 37518045 rs10177176 G C 720.09 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.076;DB;DP=50;Dels=0.0;FS=2.838;HRun=0;HaplotypeScore=0.9665;MQ=59.54;MQ0=0;MQRankSum=-1.436;QD=14.4;ReadPosRankSum=-0.039;SNPEFF_AMINO_ACID_CHANGE=L175;SNPEFF_CODON_CHANGE=ctC/ctG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_37518011_37518142;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRKD3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000234179 GT:AD:DP:GQ:PL 0/1:25,25:50:99:750,0,834
2 37543371 rs6544066 A G 841.09 PASS AB=0.38;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.637;DB;DP=50;Dels=0.0;FS=1.303;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=-0.934;QD=16.82;ReadPosRankSum=0.215;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRKD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477132 GT:AD:DP:GQ:PL 0/1:19,31:50:99:871,0,594
2 37595604 rs3770747 C T 47.98 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.727;QD=11.99;ReadPosRankSum=0.727;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_2_37595424_37595802;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=QPCT;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000444022 GT:AD:DP:GQ:PL 0/1:1,3:4:33.20:78,0,33
2 37595696 rs1468816 A C 406.61 PASS AB=0.448;AC=1;AF=0.50;AN=2;BaseQRankSum=1.601;DB;DP=29;Dels=0.0;FS=2.341;HRun=1;HaplotypeScore=0.0;MQ=58.39;MQ0=0;MQRankSum=0.504;QD=14.02;ReadPosRankSum=-0.767;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=QPCT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000338415 GT:AD:DP:GQ:PL 0/1:13,16:29:99:437,0,410
2 38178362 rs2197561 T C 2522.63 PASS AC=2;AF=1.00;AN=2;DB;DP=82;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9867;MQ=59.72;MQ0=0;QD=30.76;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM82A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234195 GT:AD:DP:GQ:PL 1/1:0,82:82:99:2556,193,0
2 38179134 rs4670800 G A 3144.88 PASS AC=2;AF=1.00;AN=2;DB;DP=86;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.51;MQ0=0;QD=36.57;SNPEFF_AMINO_ACID_CHANGE=G259D;SNPEFF_CODON_CHANGE=gGt/gAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_38178376_38179344;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM82A1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000234195 GT:AD:DP:GQ:PL 1/1:0,86:86:99:3178,238,0
2 38179373 rs77173073 A G 403.88 PASS AB=0.487;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.204;DB;DP=39;Dels=0.0;FS=1.594;HRun=3;HaplotypeScore=0.0;MQ=59.52;MQ0=0;MQRankSum=0.0;QD=10.36;ReadPosRankSum=-0.526;SNPEFF_AMINO_ACID_CHANGE=R339G;SNPEFF_CODON_CHANGE=Agg/Ggg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_38178376_38180253;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM82A1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000402091 GT:AD:DP:GQ:PL 0/1:19,20:39:99:434,0,625
2 38202502 rs2044447 A G 439.52 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.39;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM82A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000414644 GT:AD:DP:GQ:PL 1/1:0,14:14:36.09:473,36,0
2 38218281 rs17021813 T C 258.89 PASS AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=1.837;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.021;QD=13.63;ReadPosRankSum=-0.531;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM82A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000496735 GT:AD:DP:GQ:PL 0/1:10,9:19:99:289,0,362
2 38244818 rs11901988 A C 1009.71 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.25;MQ0=0;QD=32.57;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM82A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354545 GT:AD:DP:GQ:PL 1/1:0,31:31:78.26:1043,78,0
2 38244824 rs11891536 G A 996.26 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.17;MQ0=0;QD=35.58;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM82A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354545 GT:AD:DP:GQ:PL 1/1:0,28:28:75.25:1029,75,0
2 38298150 rs1056837 A G 460.93 PASS AB=0.63;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.161;DB;DP=46;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=-0.068;QD=10.02;ReadPosRankSum=-0.728;SNPEFF_AMINO_ACID_CHANGE=D449;SNPEFF_CODON_CHANGE=gaT/gaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_38294652_38298453;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CYP1B1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000260630 GT:AD:DP:GQ:PL 0/1:29,17:46:99:491,0,942
2 38298203 rs1056836 C G 330.17 PASS AB=0.588;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.997;DB;DP=34;Dels=0.0;FS=5.016;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.822;QD=9.71;ReadPosRankSum=0.297;SNPEFF_AMINO_ACID_CHANGE=V432L;SNPEFF_CODON_CHANGE=Gtg/Ctg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_38294652_38298453;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CYP1B1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000260630 GT:AD:DP:GQ:PL 0/1:20,14:34:99:360,0,655
2 38526324 rs3816370 A T 31.80 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.568;DB;DP=10;Dels=0.0;FS=0.0;HRun=7;HaplotypeScore=0.9665;MQ=57.66;MQ0=0;MQRankSum=0.365;QD=3.18;ReadPosRankSum=0.365;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000332337 GT:AD:DP:GQ:PL 0/1:6,4:10:61.79:62,0,213
2 38526547 rs3765052 G A 355.48 PASS AB=0.381;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.354;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=0.688;QD=16.93;ReadPosRankSum=-1.702;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000332337 GT:AD:DP:GQ:PL 0/1:8,13:21:99:385,0,275
2 38536375 rs12469251 T A 201.77 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.62;MQ0=0;QD=28.82;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000449130 GT:AD:DP:GQ:PL 1/1:0,7:7:18.06:235,18,0
2 38536626 rs2305243 T G 2468.59 PASS AC=2;AF=1.00;AN=2;DB;DP=74;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.1567;MQ=59.12;MQ0=0;QD=33.36;SNPEFF_AMINO_ACID_CHANGE=R140;SNPEFF_CODON_CHANGE=cgA/cgC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_38536520_38536648;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATL2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000449130 GT:AD:DP:GQ:PL 1/1:1,73:74:99:2502,190,0
2 38537626 rs2305245 A C 666.11 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.06;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456736 GT:AD:DP:GQ:PL 1/1:0,19:19:51.17:699,51,0
2 38541581 rs71400348 C CTAT 304.83 PASS AC=2;AF=1.00;AN=2;DB;DP=5;FS=0.0;HRun=0;HaplotypeScore=13.2811;IndelType=I;MQ=52.5;MQ0=0;QD=60.97;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000451483 GT:AD:DP:GQ:PL 1/1:0,4:5:15.05:347,15,0
2 38542573 rs12712583 T C 1014.67 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.58;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000451483 GT:AD:DP:GQ:PL 1/1:0,27:27:78.25:1048,78,0
2 38604351 rs3731847 A G 376.02 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.07;SNPEFF_AMINO_ACID_CHANGE=W18R;SNPEFF_CODON_CHANGE=Tgg/Cgg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_38604285_38604404;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATL2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000378954 GT:AD:DP:GQ:PL 1/1:0,15:15:33.07:409,33,0
2 38813090 rs116332894 T C 329.81 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.669;DB;DP=24;Dels=0.0;FS=5.969;HRun=0;HaplotypeScore=0.0;MQ=59.03;MQ0=0;MQRankSum=-1.543;QD=13.74;ReadPosRankSum=0.787;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HNRPLL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358367 GT:AD:DP:GQ:PL 0/1:9,15:24:99:360,0,321
2 38916906 rs11687518 T C 1231.39 PASS AB=0.435;AC=1;AF=0.50;AN=2;BaseQRankSum=1.58;DB;DP=69;Dels=0.0;FS=2.085;HRun=0;HaplotypeScore=0.734;MQ=59.67;MQ0=0;MQRankSum=0.502;QD=17.85;ReadPosRankSum=-0.684;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GALM;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272252 GT:AD:DP:GQ:PL 0/1:30,39:69:99:1261,0,905
2 38956947 rs2272445 A G 276.58 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.177;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.9559;MQ=60.0;MQ0=0;MQRankSum=-0.648;QD=18.44;ReadPosRankSum=-0.177;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GALM;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272252 GT:AD:DP:GQ:PL 0/1:6,9:15:99:307,0,198
2 38960491 rs3097714 A G 336.68 PASS AB=0.56;AC=1;AF=0.50;AN=2;BaseQRankSum=1.341;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.25;MQ0=0;MQRankSum=0.356;QD=13.47;ReadPosRankSum=0.027;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GALM;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000444351 GT:AD:DP:GQ:PL 0/1:14,11:25:99:367,0,492
2 38977371 rs3112183 C T 365.95 PASS AB=0.552;AC=1;AF=0.50;AN=2;BaseQRankSum=3.442;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9332;MQ=60.0;MQ0=0;MQRankSum=0.811;QD=12.62;ReadPosRankSum=0.548;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SRSF7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313117 GT:AD:DP:GQ:PL 0/1:16,13:29:99:396,0,420
2 38977402 rs3134630 T C 261.16 PASS AB=0.45;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.367;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.694;QD=13.06;ReadPosRankSum=-1.021;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SRSF7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313117 GT:AD:DP:GQ:PL 0/1:9,11:20:99:291,0,306
2 39008949 rs1056104 G A 876.21 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.385;DB;DP=66;Dels=0.0;FS=3.361;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=0.103;QD=13.28;ReadPosRankSum=0.423;SNPEFF_AMINO_ACID_CHANGE=G140D;SNPEFF_CODON_CHANGE=gGt/gAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_39008659_39009598;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GEMIN6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000281950 GT:AD:DP:GQ:PL 0/1:33,33:66:99:906,0,1021
2 39025555 rs1530853 G A 417.36 PASS AB=0.674;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.739;DB;DP=43;Dels=0.0;FS=6.369;HRun=0;HaplotypeScore=0.0;MQ=59.57;MQ0=0;MQRankSum=-0.013;QD=9.71;ReadPosRankSum=0.428;SNPEFF_AMINO_ACID_CHANGE=C1349;SNPEFF_CODON_CHANGE=tgC/tgT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_39024871_39025584;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DHX57;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000295373 GT:AD:DP:GQ:PL 0/1:29,14:43:99:447,0,862
2 39025632 rs1530852 A G 123.05 PASS AB=0.647;AC=1;AF=0.50;AN=2;BaseQRankSum=0.854;DB;DP=17;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.9;MQ0=0;MQRankSum=1.558;QD=7.24;ReadPosRankSum=0.251;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DHX57;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295373 GT:AD:DP:GQ:PL 0/1:11,6:17:99:153,0,399
2 39030074 rs13029406 C T 829.66 PASS AB=0.484;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.87;DB;DP=62;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=-0.599;QD=13.38;ReadPosRankSum=0.051;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DHX57;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000497514 GT:AD:DP:GQ:PL 0/1:30,32:62:99:860,0,935
2 39040845 rs7419838 G A 135.77 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.951;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=0.103;QD=13.58;ReadPosRankSum=1.453;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DHX57;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000442331 GT:AD:DP:GQ:PL 0/1:5,5:10:99:166,0,142
2 39042496 rs10865144 C T 154.17 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.067;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=-0.572;QD=19.27;ReadPosRankSum=-1.067;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DHX57;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000442331 GT:AD:DP:GQ:PL 0/1:2,6:8:62.92:184,0,63
2 39042639 rs3112138 G A 3418.68 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.697;DB;DP=102;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.8245;MQ=59.77;MQ0=0;MQRankSum=-1.074;QD=33.52;ReadPosRankSum=-0.208;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DHX57;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000442331 GT:AD:DP:GQ:PL 1/1:1,101:102:99:3419,250,0
2 39045885 rs10176932 C T 43.38 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=14.46;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DHX57;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295373 GT:AD:DP:GQ:PL 0/1:1,2:3:33.20:73,0,33
2 39050019 rs3112146 G T 199.11 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=61.53;MQ0=0;QD=28.44;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DHX57;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295373 GT:AD:DP:GQ:PL 1/1:0,7:7:18.06:232,18,0
2 39050061 rs67594239 AT A 291.31 PASS AC=2;AF=1.00;AN=2;DB;DP=9;FS=0.0;HRun=3;HaplotypeScore=45.9021;IndelType=D;MQ=62.36;MQ0=0;QD=32.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DHX57;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295373 GT:AD:DP:GQ:PL 1/1:0,9:9:27.08:333,27,0
2 39050141 rs3770681 A C 527.98 PASS AB=0.514;AC=1;AF=0.50;AN=2;BaseQRankSum=0.562;DB;DP=37;Dels=0.0;FS=4.077;HRun=0;HaplotypeScore=0.0;MQ=60.29;MQ0=0;MQRankSum=-0.623;QD=14.27;ReadPosRankSum=1.504;SNPEFF_AMINO_ACID_CHANGE=S1095;SNPEFF_CODON_CHANGE=tcT/tcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_39050135_39050411;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DHX57;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000295373 GT:AD:DP:GQ:PL 0/1:19,18:37:99:558,0,622
2 39053545 rs7589162 G C 221.71 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.555;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9998;MQ=60.0;MQ0=0;MQRankSum=-0.312;QD=17.05;ReadPosRankSum=-0.555;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DHX57;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295373 GT:AD:DP:GQ:PL 0/1:6,7:13:99:252,0,210
2 39054048 rs3099980 G A 51.64 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.82;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DHX57;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295373 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:83,6,0
2 39065729 rs17494315 C A 71.81 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.406;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=11.97;ReadPosRankSum=0.406;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DHX57;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355320 GT:AD:DP:GQ:PL 0/1:3,3:6:95.04:102,0,95
2 39075356 rs11124651 A C 522.64 PASS AB=0.548;AC=1;AF=0.50;AN=2;BaseQRankSum=0.354;DB;DP=42;Dels=0.0;FS=3.636;HRun=0;HaplotypeScore=0.0;MQ=59.38;MQ0=0;MQRankSum=-1.036;QD=12.44;ReadPosRankSum=1.213;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DHX57;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474104 GT:AD:DP:GQ:PL 0/1:23,19:42:99:553,0,805
2 39082344 rs7598922 T C 2041.38 PASS AB=0.542;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.117;DB;DP=144;DS;Dels=0.0;FS=7.027;HRun=0;HaplotypeScore=3.4078;MQ=59.36;MQ0=0;MQRankSum=0.379;QD=14.18;ReadPosRankSum=-0.166;SNPEFF_AMINO_ACID_CHANGE=N587S;SNPEFF_CODON_CHANGE=aAt/aGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_39082199_39082394;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DHX57;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000295373 GT:AD:DP:GQ:PL 0/1:78,66:144:99:2071,0,2594
2 39088032 . G T 131.14 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=0.077;DP=14;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.734;MQ=40.36;MQ0=0;MQRankSum=-2.083;QD=9.37;ReadPosRankSum=-0.077;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DHX57;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000417233 GT:AD:DP:GQ:PL 0/1:4,10:14:69.38:161,0,69
2 39090696 rs3099999 T C 1495.60 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.52;MQ0=0;QD=38.35;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DHX57;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295373 GT:AD:DP:GQ:PL 1/1:0,39:39:99:1529,114,0
2 39090828 rs3100000 C G 43.97 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=14.66;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DHX57;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295373 GT:AD:DP:GQ:PL 0/1:1,2:3:26.22:74,0,26
2 39108387 rs3099947 A G 50.52 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MORN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340556 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
2 39108773 rs3099948 A G 842.15 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.03;MQ0=0;QD=35.09;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MORN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340556 GT:AD:DP:GQ:PL 1/1:0,23:24:63.21:875,63,0
2 39109393 rs3099949 T G 197.60 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.93;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MORN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340556 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:230,18,0
2 39148393 rs77239738 G A 222.28 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.591;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.766;QD=14.82;ReadPosRankSum=-0.177;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF33;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398800 GT:AD:DP:GQ:PL 0/1:6,9:15:99:252,0,203
2 39162785 rs138720535 CT C 132.66 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=3.356;DB;DP=20;FS=0.0;HRun=8;HaplotypeScore=47.9532;IndelType=D;MQ=60.0;MQ0=0;MQRankSum=0.964;QD=6.63;ReadPosRankSum=-0.887;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF33;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000488692 GT:AD:DP:GQ:PL 0/1:12,8:20:99:172,0,375
2 39170932 rs67493729 GT G 129.33 PASS AB=0.71;AC=1;AF=0.50;AN=2;BaseQRankSum=3.873;DB;DP=22;FS=0.0;HRun=10;HaplotypeScore=50.1499;IndelType=D;MQ=60.0;MQ0=0;MQRankSum=-1.068;QD=5.88;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF33;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398800 GT:AD:DP:GQ:PL 0/1:13,9:22:99:168,0,363
2 39178493 rs441869 G C 47.34 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.67;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF33;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398800 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
2 39185048 rs422854 C T 248.36 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=1.134;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.289;QD=20.7;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF33;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398800 GT:AD:DP:GQ:PL 0/1:4,8:12:99:278,0,129
2 39187190 rs6755527 T C 42.22 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=14.07;ReadPosRankSum=0.736;SNPEFF_AMINO_ACID_CHANGE=S582P;SNPEFF_CODON_CHANGE=Tcc/Ccc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_39186982_39187789;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF33;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000398800 GT:AD:DP:GQ:PL 0/1:1,2:3:32.20:72,0,32
2 39187519 rs958412 A G 41.52 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=13.84;ReadPosRankSum=-0.736;SNPEFF_AMINO_ACID_CHANGE=K691;SNPEFF_CODON_CHANGE=aaA/aaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_39186982_39187789;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF33;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000398800 GT:AD:DP:GQ:PL 0/1:1,2:3:31.62:72,0,32
2 39198966 rs2305516 A G 1759.26 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.19;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF33;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000430382 GT:AD:DP:GQ:PL 1/1:0,50:50:99:1792,132,0
2 39214821 rs2290445 A C 338.90 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.66;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SOS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000395038 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:372,27,0
2 39224351 rs1454223 G T 1886.01 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.72;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SOS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474390 GT:AD:DP:GQ:PL 1/1:0,49:50:99:1919,141,0
2 39224615 rs5830551 G GT 683.02 PASS AC=2;AF=1.00;AN=2;DB;DP=23;FS=0.0;HRun=7;HaplotypeScore=43.2996;IndelType=I;MQ=60.47;MQ0=0;QD=29.7;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SOS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263879 GT:AD:DP:GQ:PL 1/1:3,20:23:60.18:725,60,0
2 39233500 rs7577088 G A 2329.82 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.98;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SOS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263879 GT:AD:DP:GQ:PL 1/1:0,63:63:99:2363,175,0
2 39239572 rs3796038 G C 76.71 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=19.18;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SOS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263879 GT:AD:DP:GQ:PL 1/1:0,4:4:9.02:109,9,0
2 39251375 rs56299761 T TCAC 1893.22 PASS AC=2;AF=1.00;AN=2;DB;DP=31;FS=0.0;HRun=0;HaplotypeScore=85.7027;IndelType=I;MQ=53.55;MQ0=0;QD=61.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SOS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263879 GT:AD:DP:GQ:PL 1/1:3,28:31:93.31:1935,93,0
2 39278066 rs4670907 C T 47.98 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.99;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SOS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263879 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
2 39281730 rs997344 G C 1079.09 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.54;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SOS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000451331 GT:AD:DP:GQ:PL 1/1:0,28:28:81.27:1112,81,0
2 39282079 rs2060987 A G 529.67 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.1;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SOS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000451331 GT:AD:DP:GQ:PL 1/1:0,16:16:42.14:563,42,0
2 39402978 rs11393458 A AG 342.04 PASS AC=2;AF=1.00;AN=2;DB;DP=8;FS=0.0;HRun=0;HaplotypeScore=14.7243;IndelType=I;MQ=60.0;MQ0=0;QD=42.76;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDKL4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378803 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:384,24,0
2 39406572 rs7566123 C A 679.08 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.74;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDKL4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378803 GT:AD:DP:GQ:PL 1/1:0,19:19:54.18:712,54,0
2 39417839 rs2708223 A G 125.28 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDKL4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378803 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:158,12,0
2 39417860 rs6544209 T C 82.72 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.57;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDKL4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378803 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:115,9,0
2 39440727 rs10196407 G C 560.83 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.04;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDKL4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378803 GT:AD:DP:GQ:PL 1/1:0,20:20:54.10:594,54,0
2 39452861 rs11124663 C T 111.61 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.9;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDKL4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378803 GT:AD:DP:GQ:PL 1/1:0,4:4:12.03:144,12,0
2 39479122 rs3770678 G C 106.03 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.361;DB;DP=9;Dels=0.0;FS=3.522;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.729;QD=11.78;ReadPosRankSum=-0.729;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAP4K3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263881 GT:AD:DP:GQ:PL 0/1:5,4:9:99:136,0,183
2 39492102 rs6714566 T C 87.63 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAP4K3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263881 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:120,9,0
2 39492144 rs3755178 C A 33.34 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=11.11;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAP4K3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263881 GT:AD:DP:GQ:PL 0/1:1,2:3:30.29:63,0,30
2 39494197 rs2302749 C T 152.46 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.657;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9332;MQ=60.0;MQ0=0;MQRankSum=-0.38;QD=9.53;ReadPosRankSum=-1.464;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAP4K3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000495648 GT:AD:DP:GQ:PL 0/1:10,6:16:99:182,0,373
2 39494469 rs10865149 C G 319.19 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.928;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.84;MQ0=0;MQRankSum=-0.34;QD=15.96;ReadPosRankSum=0.643;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAP4K3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000495648 GT:AD:DP:GQ:PL 0/1:10,10:20:99:349,0,337
2 39507417 rs3755176 T A 491.29 PASS AB=0.448;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.952;DB;DP=30;Dels=0.0;FS=4.494;HRun=0;HaplotypeScore=0.9578;MQ=59.23;MQ0=0;MQRankSum=-0.023;QD=16.38;ReadPosRankSum=-0.627;SNPEFF_AMINO_ACID_CHANGE=T123;SNPEFF_CODON_CHANGE=acA/acT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_39507413_39507497;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAP4K3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000536018 GT:AD:DP:GQ:PL 0/1:13,16:30:99:521,0,378
2 39514136 rs3755172 T C 546.67 PASS AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=1.038;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.541;QD=14.39;ReadPosRankSum=-0.979;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAP4K3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465701 GT:AD:DP:GQ:PL 0/1:20,18:38:99:577,0,663
2 39514204 rs3755171 G C 73.05 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.937;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.55;QD=10.44;ReadPosRankSum=0.937;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAP4K3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465701 GT:AD:DP:GQ:PL 0/1:4,3:7:99:103,0,145
2 39519718 rs11124672 T C 151.08 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.866;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.633;QD=15.11;ReadPosRankSum=-0.365;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAP4K3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000414968 GT:AD:DP:GQ:PL 0/1:4,6:10:99:181,0,127
2 39526842 rs2111382 A C 751.83 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.8;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAP4K3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263881 GT:AD:DP:GQ:PL 1/1:0,21:21:57.19:785,57,0
2 39553271 rs3815594 A G 1339.78 PASS AB=0.453;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.921;DB;DP=75;Dels=0.0;FS=3.644;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.346;QD=17.86;ReadPosRankSum=0.197;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAP4K3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263881 GT:AD:DP:GQ:PL 0/1:34,41:75:99:1370,0,1204
2 39558928 rs6760382 G A 36.25 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.231;QD=7.25;ReadPosRankSum=-0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAP4K3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263881 GT:AD:DP:GQ:PL 0/1:3,2:5:66.24:66,0,110
2 39564620 rs1125839 C A 592.65 PASS AB=0.432;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.774;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.935;QD=16.02;ReadPosRankSum=-0.966;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAP4K3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000437968 GT:AD:DP:GQ:PL 0/1:16,21:37:99:623,0,524
2 39570427 rs3732053 T C 156.50 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=0.956;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.221;QD=19.56;ReadPosRankSum=-0.322;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAP4K3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263881 GT:AD:DP:GQ:PL 0/1:3,5:8:99:186,0,101
2 39583446 rs7422651 A G 1623.92 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=3.819;DB;DP=122;Dels=0.0;FS=0.728;HRun=0;HaplotypeScore=1.9783;MQ=60.0;MQ0=0;MQRankSum=-1.976;QD=13.31;ReadPosRankSum=-0.366;SNPEFF_AMINO_ACID_CHANGE=I63;SNPEFF_CODON_CHANGE=atT/atC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_39583390_39583480;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAP4K3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000263881 GT:AD:DP:GQ:PL 0/1:65,57:122:99:1654,0,2033
2 39893087 . A G 72.19 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.72;DP=7;Dels=0.0;FS=3.979;HRun=0;HaplotypeScore=0.5784;MQ=40.36;MQ0=0;MQRankSum=-1.38;QD=10.31;ReadPosRankSum=0.72;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TMEM178;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000437068 GT:AD:DP:GQ:PL 0/1:2,5:7:43.07:102,0,43
2 40391789 rs1005213 G T 252.68 PASS AB=0.091;AC=1;AF=0.50;AN=2;BaseQRankSum=0.348;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.09;MQ0=0;MQRankSum=0.0;QD=22.97;ReadPosRankSum=-1.741;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC8A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000332839 GT:AD:DP:GQ:PL 0/1:1,10:11:10.71:282,0,11
2 40392313 rs434725 G C 52.05 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.35;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC8A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000332839 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:83,6,0
2 40402275 rs6734847 G A 578.11 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.01;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC8A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000332839 GT:AD:DP:GQ:PL 1/1:0,17:17:45.15:611,45,0
2 40403104 rs106706 A G 941.14 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC8A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000332839 GT:AD:DP:GQ:PL 1/1:0,31:31:75.22:974,75,0
2 40404839 rs433572 C T 655.22 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.76;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC8A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000332839 GT:AD:DP:GQ:PL 1/1:0,20:20:51.17:688,51,0
2 42119281 rs10186380 T G 909.02 PASS AB=0.507;AC=1;AF=0.50;AN=2;BaseQRankSum=1.05;DB;DP=69;Dels=0.0;FS=19.021;HRun=2;HaplotypeScore=0.734;MQ=59.46;MQ0=0;MQRankSum=2.25;QD=13.17;ReadPosRankSum=-1.062;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AC104654.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398796 GT:AD:DP:GQ:PL 0/1:35,34:69:99:939,0,1241
2 42119566 rs6719730 T A 72.99 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.406;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=12.16;ReadPosRankSum=0.988;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AC104654.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398796 GT:AD:DP:GQ:PL 0/1:3,3:6:99:103,0,104
2 42120150 rs4633960 C G 50.52 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.26;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AC104654.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398796 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
2 42120156 rs4268965 T C 41.26 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.63;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AC104654.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398796 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:73,6,0
2 42179937 rs77388705 G C 83.85 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=16.77;ReadPosRankSum=-0.727;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC013480.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000403980 GT:AD:DP:GQ:PL 0/1:2,3:5:27.97:114,0,28
2 42181169 rs76580820 T A 67.67 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=1.545;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.2;MQ0=0;MQRankSum=0.271;QD=5.21;ReadPosRankSum=0.271;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC013480.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000403980 GT:AD:DP:GQ:PL 0/1:8,5:13:97.67:98,0,237
2 42181226 rs10180209 C A 418.14 PASS AB=0.516;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.352;DB;DP=31;Dels=0.0;FS=3.393;HRun=0;HaplotypeScore=0.9665;MQ=59.25;MQ0=0;MQRankSum=-0.217;QD=13.49;ReadPosRankSum=0.178;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC013480.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000403980 GT:AD:DP:GQ:PL 0/1:16,15:31:99:448,0,471
2 42275819 rs11897440 T C 170.26 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.05;SNPEFF_AMINO_ACID_CHANGE=G160;SNPEFF_CODON_CHANGE=ggT/ggC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_42275160_42275978;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PKDCC;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000294964 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:203,15,0
2 42280448 rs34853050 G A 1529.06 PASS AB=0.481;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=106;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=0.5;QD=14.43;ReadPosRankSum=-0.999;SNPEFF_AMINO_ACID_CHANGE=A237T;SNPEFF_CODON_CHANGE=Gcc/Acc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_42280379_42280501;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PKDCC;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000294964 GT:AD:DP:GQ:PL 0/1:51,55:106:99:1559,0,1469
2 42280970 rs1550431 G A 36.56 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.307;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.652;QD=4.06;ReadPosRankSum=-1.881;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PKDCC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485578 GT:AD:DP:GQ:PL 0/1:5,4:9:66.55:67,0,184
2 42284884 rs1044305 T C 153.59 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.383;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9734;MQ=60.0;MQ0=0;MQRankSum=0.741;QD=15.36;ReadPosRankSum=0.741;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PKDCC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401498 GT:AD:DP:GQ:PL 0/1:4,6:10:99:184,0,135
2 42396722 rs7233 A G 323.25 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.05;DB;DP=24;Dels=0.0;FS=4.993;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.491;QD=13.47;ReadPosRankSum=-0.606;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_2_42396490_42396776;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EML4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000318522 GT:AD:DP:GQ:PL 0/1:12,12:24:99:353,0,365
2 42488045 rs2302346 G A 45.87 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=15.29;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EML4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318522 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:77,6,0
2 42488198 rs2302345 A G 735.11 PASS AB=0.48;AC=1;AF=0.50;AN=2;BaseQRankSum=3.738;DB;DP=50;Dels=0.0;FS=2.637;HRun=0;HaplotypeScore=0.9665;MQ=59.63;MQ0=0;MQRankSum=-0.825;QD=14.7;ReadPosRankSum=1.505;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EML4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318522 GT:AD:DP:GQ:PL 0/1:24,26:50:99:765,0,776
2 42491751 rs35132936 C T 37.19 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.358;QD=7.44;ReadPosRankSum=0.358;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EML4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409040 GT:AD:DP:GQ:PL 0/1:2,3:5:67.18:67,0,68
2 42491951 rs6735571 C T 327.48 PASS AB=0.412;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.439;DB;DP=17;Dels=0.0;FS=1.957;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.732;QD=19.26;ReadPosRankSum=-0.537;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EML4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409040 GT:AD:DP:GQ:PL 0/1:7,10:17:99:357,0,238
2 42492191 rs13016514 A C 273.83 PASS AB=0.308;AC=1;AF=0.50;AN=2;BaseQRankSum=0.849;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.003;QD=21.06;ReadPosRankSum=0.694;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EML4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409040 GT:AD:DP:GQ:PL 0/1:4,9:13:99:304,0,125
2 42509829 rs6723361 T C 101.53 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.017;DB;DP=8;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.421;QD=12.69;ReadPosRankSum=-0.421;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EML4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318522 GT:AD:DP:GQ:PL 0/1:4,4:8:99:132,0,135
2 42510018 rs6736913 A G 2084.88 PASS AC=2;AF=1.00;AN=2;DB;DP=71;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;QD=29.36;SNPEFF_AMINO_ACID_CHANGE=K225E;SNPEFF_CODON_CHANGE=Aaa/Gaa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_42509963_42510112;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EML4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000402711 GT:AD:DP:GQ:PL 1/1:0,70:71:99:2118,187,0
2 42511627 rs2286704 T G 49.99 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EML4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318522 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
2 42511903 rs6744779 A G 405.59 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.609;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.358;QD=22.53;ReadPosRankSum=1.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EML4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318522 GT:AD:DP:GQ:PL 0/1:6,12:18:99:436,0,193
2 42513659 rs3732195 C G 134.96 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.74;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EML4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318522 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:167,12,0
2 42515388 rs10202624 A G 2255.69 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.18;SNPEFF_AMINO_ACID_CHANGE=I324V;SNPEFF_CODON_CHANGE=Att/Gtt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_42515367_42515462;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EML4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000402711 GT:AD:DP:GQ:PL 1/1:0,66:66:99:2289,166,0
2 42515437 rs28651764 A G 810.39 PASS AB=0.568;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.725;DB;DP=74;Dels=0.0;FS=4.672;HRun=1;HaplotypeScore=1.5731;MQ=60.0;MQ0=0;MQRankSum=0.142;QD=10.95;ReadPosRankSum=-0.867;SNPEFF_AMINO_ACID_CHANGE=K340R;SNPEFF_CODON_CHANGE=aAg/aGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_42515367_42515462;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EML4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000402711 GT:AD:DP:GQ:PL 0/1:42,32:74:99:840,0,1266
2 42515501 rs10179237 C T 379.73 PASS AB=0.548;AC=1;AF=0.50;AN=2;BaseQRankSum=2.203;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.8007;MQ=60.0;MQ0=0;MQRankSum=1.092;QD=12.25;ReadPosRankSum=-0.02;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EML4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318522 GT:AD:DP:GQ:PL 0/1:17,14:31:99:410,0,416
2 42515670 rs13017804 A C 48.77 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EML4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318522 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:80,6,0
2 42522078 rs6544537 C T 36.67 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.33;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EML4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318522 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:68,6,0
2 42522756 rs10490555 A G 227.49 PASS AB=0.3;AC=1;AF=0.50;AN=2;BaseQRankSum=1.386;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=57.66;MQ0=0;MQRankSum=1.818;QD=22.75;ReadPosRankSum=-0.895;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EML4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318522 GT:AD:DP:GQ:PL 0/1:3,7:10:55.90:257,0,56
2 42531871 rs12464702 G T 42.22 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=14.07;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EML4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318522 GT:AD:DP:GQ:PL 0/1:1,2:3:33.98:72,0,34
2 42544821 rs7558501 C T 192.10 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.44;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EML4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318522 GT:AD:DP:GQ:PL 1/1:0,7:7:18.05:225,18,0
2 42553210 rs2286703 C A 973.09 PASS AB=0.521;AC=1;AF=0.50;AN=2;BaseQRankSum=3.079;DB;DP=71;Dels=0.0;FS=1.532;HRun=3;HaplotypeScore=0.9995;MQ=59.47;MQ0=0;MQRankSum=1.053;QD=13.71;ReadPosRankSum=-2.365;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EML4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318522 GT:AD:DP:GQ:PL 0/1:37,34:71:99:1003,0,1260
2 42553578 rs11682029 A C 198.47 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.35;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EML4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318522 GT:AD:DP:GQ:PL 1/1:0,7:7:18.06:231,18,0
2 42556022 rs2286700 A T 999.14 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=0.726;DB;DP=63;Dels=0.0;FS=4.169;HRun=0;HaplotypeScore=0.9997;MQ=60.0;MQ0=0;MQRankSum=-1.791;QD=15.86;ReadPosRankSum=1.819;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COX7A2L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468711 GT:AD:DP:GQ:PL 0/1:28,35:63:99:1029,0,857
2 42588195 rs3764906 T C 197.81 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.101;DB;DP=14;Dels=0.0;FS=2.522;HRun=1;HaplotypeScore=0.0;MQ=58.33;MQ0=0;MQRankSum=1.493;QD=14.13;ReadPosRankSum=0.935;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COX7A2L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234301 GT:AD:DP:GQ:PL 0/1:7,7:14:99:228,0,171
2 42836516 rs6720277 A G 1452.48 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.24;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282366 GT:AD:DP:GQ:PL 1/1:0,39:39:99:1485,117,0
2 42871144 rs2272448 C G 105.33 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.45;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.66;MQ0=0;MQRankSum=-1.453;QD=10.53;ReadPosRankSum=-0.336;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282366 GT:AD:DP:GQ:PL 0/1:5,5:10:99:135,0,184
2 42922888 rs66547039 AT A 754.75 PASS AB=0.658;AC=1;AF=0.50;AN=2;BaseQRankSum=2.178;DB;DP=96;FS=2.702;HRun=13;HaplotypeScore=358.6986;IndelType=D;MQ=58.27;MQ0=0;MQRankSum=2.465;QD=7.86;ReadPosRankSum=0.343;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282366 GT:AD:DP:GQ:PL 0/1:44,50:96:99:794,0,802
2 42931217 rs2304658 A C 834.09 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.75;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282366 GT:AD:DP:GQ:PL 1/1:0,24:24:66.19:867,66,0
2 42935481 rs2043912 C T 74.53 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.84;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282366 GT:AD:DP:GQ:PL 1/1:0,3:3:9.02:107,9,0
2 42935961 rs4953577 C T 3954.34 PASS AC=2;AF=1.00;AN=2;DB;DP=110;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.58;MQ0=0;QD=35.95;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282366 GT:AD:DP:GQ:PL 1/1:0,110:110:99:3954,289,0
2 42935979 rs4953578 C T 4548.56 PASS AC=2;AF=1.00;AN=2;DB;DP=132;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=4.4861;MQ=59.83;MQ0=0;QD=34.2;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282366 GT:AD:DP:GQ:PL 1/1:0,132:132:99:4549,340,0
2 42990336 rs1992286 T G 267.33 PASS AB=0.412;AC=1;AF=0.50;AN=2;BaseQRankSum=1.139;DB;DP=17;Dels=0.0;FS=2.363;HRun=0;HaplotypeScore=3.807;MQ=49.31;MQ0=0;MQRankSum=2.115;QD=15.73;ReadPosRankSum=1.03;SNPEFF_AMINO_ACID_CHANGE=R328;SNPEFF_CODON_CHANGE=cgA/cgC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_42989642_42991401;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OXER1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000378661 GT:AD:DP:GQ:PL 0/1:7,10:17:99:297,0,147
2 42990344 . C G 47.32 PASS AB=0.688;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.061;DP=16;Dels=0.0;FS=28.543;HRun=2;HaplotypeScore=4.9508;MQ=50.31;MQ0=0;MQRankSum=-2.143;QD=2.96;ReadPosRankSum=-0.184;SNPEFF_AMINO_ACID_CHANGE=A326P;SNPEFF_CODON_CHANGE=Gcc/Ccc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_42989642_42991401;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OXER1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000378661 GT:AD:DP:GQ:PL 0/1:11,5:16:77.32:77,0,250
2 42996809 rs144024954 G A 107.87 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.05;MQ0=0;MQRankSum=0.922;QD=13.48;ReadPosRankSum=-2.017;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=HAAO;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000406924 GT:AD:DP:GQ:PL 0/1:4,4:8:99:138,0,128
2 42996819 rs13413507 G A 102.47 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.159;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.39;MQ0=0;MQRankSum=0.361;QD=11.39;ReadPosRankSum=0.729;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=HAAO;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000406924 GT:AD:DP:GQ:PL 0/1:4,5:9:99:132,0,135
2 43015401 rs3816179 T C 43.49 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.74;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=HAAO;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294973 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:75,6,0
2 43015612 rs3816181 G T 841.62 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=HAAO;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294973 GT:AD:DP:GQ:PL 1/1:0,22:22:63.21:875,63,0
2 43015719 rs3816183 T C 1472.11 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.04;SNPEFF_AMINO_ACID_CHANGE=I37V;SNPEFF_CODON_CHANGE=Atc/Gtc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_43015669_43015747;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=HAAO;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000294973 GT:AD:DP:GQ:PL 1/1:0,49:49:99:1505,117,0
2 43015757 rs3816184 G A 1156.67 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9578;MQ=60.0;MQ0=0;QD=34.02;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=HAAO;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294973 GT:AD:DP:GQ:PL 1/1:0,34:34:90.28:1190,90,0
2 43015902 rs3816185 G A 52.28 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=HAAO;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294973 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
2 43019730 rs2304656 A G 564.27 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.78;MQ0=0;QD=29.7;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=HAAO;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000406924 GT:AD:DP:GQ:PL 1/1:0,19:19:45.14:597,45,0
2 43625078 rs7605661 T C 899.28 PASS AB=0.549;AC=1;AF=0.50;AN=2;BaseQRankSum=2.987;DB;DP=71;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=-0.133;QD=12.67;ReadPosRankSum=1.681;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=THADA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000330266 GT:AD:DP:GQ:PL 0/1:39,32:71:99:929,0,1279
2 43625184 rs33979934 T A 1560.26 PASS AB=0.477;AC=1;AF=0.50;AN=2;BaseQRankSum=0.999;DB;DP=109;Dels=0.0;FS=1.561;HRun=0;HaplotypeScore=1.9652;MQ=59.58;MQ0=0;MQRankSum=0.575;QD=14.31;ReadPosRankSum=-0.973;SNPEFF_AMINO_ACID_CHANGE=T1066S;SNPEFF_CODON_CHANGE=Act/Tct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_43625110_43625278;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=THADA;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000415080 GT:AD:DP:GQ:PL 0/1:52,57:109:99:1590,0,1525
2 43779206 . G GT 899.39 PASS AB=0.676;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.927;DP=50;FS=1.117;HRun=1;HaplotypeScore=105.2125;IndelType=I;MQ=59.76;MQ0=0;MQRankSum=0.564;QD=17.99;ReadPosRankSum=0.16;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=THADA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000404790 GT:AD:DP:GQ:PL 0/1:26,24:50:99:938,0,748
2 43799070 rs3752355 C T 1476.74 PASS AB=0.466;AC=1;AF=0.50;AN=2;BaseQRankSum=4.099;DB;DP=88;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9998;MQ=59.58;MQ0=0;MQRankSum=1.547;QD=16.78;ReadPosRankSum=1.322;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=THADA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000330266 GT:AD:DP:GQ:PL 0/1:41,47:88:99:1507,0,1393
2 43802261 rs970175 C A 617.19 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.57;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=THADA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000330266 GT:AD:DP:GQ:PL 1/1:0,16:16:48.16:650,48,0
2 43871983 rs12105773 T C 483.96 PASS AB=0.579;AC=1;AF=0.50;AN=2;BaseQRankSum=1.552;DB;DP=38;Dels=0.0;FS=1.71;HRun=1;HaplotypeScore=1.8268;MQ=59.51;MQ0=0;MQRankSum=-2.232;QD=12.74;ReadPosRankSum=0.34;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEKHH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282406 GT:AD:DP:GQ:PL 0/1:22,16:38:99:514,0,617
2 43872032 rs4450661 A G 280.47 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=0.178;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.746;QD=13.36;ReadPosRankSum=-0.107;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEKHH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282406 GT:AD:DP:GQ:PL 0/1:12,9:21:99:310,0,395
2 43872068 rs182654764 T A 82.39 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.398;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=7.49;ReadPosRankSum=-0.678;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEKHH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282406 GT:AD:DP:GQ:PL 0/1:7,4:11:99:112,0,253
2 43902511 rs755862 G C 31.33 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.406;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=5.22;ReadPosRankSum=0.406;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEKHH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282406 GT:AD:DP:GQ:PL 0/1:3,3:6:61.32:61,0,106
2 43903066 rs3828297 A G 2861.60 PASS AB=0.524;AC=1;AF=0.50;AN=2;BaseQRankSum=0.501;DB;DP=212;Dels=0.0;FS=1.087;HRun=0;HaplotypeScore=3.4328;MQ=59.89;MQ0=0;MQRankSum=-0.672;QD=13.5;ReadPosRankSum=0.702;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEKHH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282406 GT:AD:DP:GQ:PL 0/1:111,101:212:99:2892,0,3209
2 43903354 rs4952675 T C 129.06 PASS AB=0.806;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.052;DB;DP=36;Dels=0.0;FS=3.972;HRun=0;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=-2.619;QD=3.58;ReadPosRankSum=0.186;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEKHH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282406 GT:AD:DP:GQ:PL 0/1:29,7:36:99:159,0,998
2 43903483 rs4952995 T C 140.30 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.271;DB;DP=21;Dels=0.0;FS=2.629;HRun=0;HaplotypeScore=0.0;MQ=58.89;MQ0=0;MQRankSum=-0.289;QD=6.68;ReadPosRankSum=0.537;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEKHH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282406 GT:AD:DP:GQ:PL 0/1:12,9:21:99:170,0,368
2 43905898 . G GAGGTGGAGGTGC 535.99 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.774;DP=21;FS=0.0;HRun=0;HaplotypeScore=172.9702;IndelType=I;MQ=54.39;MQ0=0;MQRankSum=-1.268;QD=25.52;ReadPosRankSum=0.713;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEKHH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282406 GT:AD:DP:GQ:PL 0/1:14,6:21:99:575,0,797
2 43921489 rs12616572 A T 480.19 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=1.464;DB;DP=33;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.3;MQ0=0;MQRankSum=0.813;QD=14.55;ReadPosRankSum=0.886;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEKHH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282406 GT:AD:DP:GQ:PL 0/1:18,15:33:99:510,0,629
2 43924171 rs10211617 T A 69.56 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.684;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.221;QD=7.73;ReadPosRankSum=-0.684;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEKHH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460356 GT:AD:DP:GQ:PL 0/1:6,3:9:99:100,0,185
2 43926943 rs7606783 T A 548.01 PASS AB=0.424;AC=1;AF=0.50;AN=2;BaseQRankSum=0.419;DB;DP=33;Dels=0.0;FS=1.453;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.949;QD=16.61;ReadPosRankSum=0.419;SNPEFF_AMINO_ACID_CHANGE=P282;SNPEFF_CODON_CHANGE=ccT/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_43926786_43927747;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEKHH2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000282406 GT:AD:DP:GQ:PL 0/1:14,19:33:99:578,0,422
2 43931176 rs4953002 T C 639.55 PASS AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=2.328;DB;DP=57;Dels=0.0;FS=7.437;HRun=0;HaplotypeScore=2.9985;MQ=55.39;MQ0=0;MQRankSum=-1.181;QD=11.22;ReadPosRankSum=0.853;SNPEFF_AMINO_ACID_CHANGE=N569;SNPEFF_CODON_CHANGE=aaT/aaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_43931120_43931195;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEKHH2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000282406 GT:AD:DP:GQ:PL 0/1:30,27:57:99:670,0,735
2 43931321 rs4953003 G A 37.95 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.231;QD=7.59;ReadPosRankSum=-1.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEKHH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282406 GT:AD:DP:GQ:PL 0/1:3,2:5:67.94:68,0,108
2 43936974 rs9679009 A G 130.26 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.034;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.839;QD=9.3;ReadPosRankSum=0.452;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEKHH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282406 GT:AD:DP:GQ:PL 0/1:8,6:14:99:160,0,281
2 43937500 rs17414174 T C 537.21 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=4.578;DB;DP=39;Dels=0.0;FS=1.411;HRun=0;HaplotypeScore=0.8321;MQ=58.81;MQ0=0;MQRankSum=-0.268;QD=13.77;ReadPosRankSum=-0.859;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEKHH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282406 GT:AD:DP:GQ:PL 0/1:21,18:39:99:567,0,713
2 43939525 rs13028613 A G 894.50 PASS AB=0.391;AC=1;AF=0.50;AN=2;BaseQRankSum=0.394;DB;DP=46;Dels=0.0;FS=1.353;HRun=2;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=-0.079;QD=19.45;ReadPosRankSum=0.439;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEKHH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282406 GT:AD:DP:GQ:PL 0/1:18,28:46:99:924,0,532
2 43947944 rs17031344 A G 322.80 PASS AB=0.613;AC=1;AF=0.50;AN=2;BaseQRankSum=1.318;DB;DP=31;Dels=0.0;FS=2.004;HRun=0;HaplotypeScore=0.9665;MQ=60.0;MQ0=0;MQRankSum=0.547;QD=10.41;ReadPosRankSum=0.466;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEKHH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282406 GT:AD:DP:GQ:PL 0/1:19,12:31:99:353,0,623
2 43953664 rs7574334 A G 276.53 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.442;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.265;QD=15.36;ReadPosRankSum=-0.53;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEKHH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282406 GT:AD:DP:GQ:PL 0/1:9,9:18:99:307,0,321
2 43991357 rs7565517 A C 974.01 PASS AB=0.41;AC=1;AF=0.50;AN=2;BaseQRankSum=3.498;DB;DP=61;Dels=0.0;FS=10.004;HRun=0;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=1.474;QD=15.97;ReadPosRankSum=-1.371;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEKHH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282406 GT:AD:DP:GQ:PL 0/1:25,36:61:99:1004,0,803
2 44010620 rs3815995 G A 587.43 PASS AB=0.51;AC=1;AF=0.50;AN=2;BaseQRankSum=1.837;DB;DP=52;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.5449;MQ=60.0;MQ0=0;MQRankSum=-0.028;QD=11.3;ReadPosRankSum=0.198;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DYNC2LI1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260605 GT:AD:DP:GQ:PL 0/1:26,25:52:99:617,0,765
2 44021826 rs9309107 T A 939.35 PASS AB=0.573;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.572;DB;DP=82;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9933;MQ=59.15;MQ0=0;MQRankSum=0.628;QD=11.46;ReadPosRankSum=0.937;SNPEFF_AMINO_ACID_CHANGE=F184Y;SNPEFF_CODON_CHANGE=tTt/tAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_44021596_44022318;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DYNC2LI1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000406852 GT:AD:DP:GQ:PL 0/1:47,35:82:99:969,0,1392
2 44028013 rs11556157 A T 443.36 PASS AB=0.424;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.346;DB;DP=33;Dels=0.0;FS=1.377;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.164;QD=13.44;ReadPosRankSum=-1.002;SNPEFF_AMINO_ACID_CHANGE=I104L;SNPEFF_CODON_CHANGE=Ata/Tta;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_44027980_44028056;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DYNC2LI1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000443170 GT:AD:DP:GQ:PL 0/1:14,19:33:99:473,0,456
2 44028651 . C T 33.02 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.159;DP=9;Dels=0.0;FS=4.26;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.361;QD=3.67;ReadPosRankSum=-0.361;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DYNC2LI1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000489222 GT:AD:DP:GQ:PL 0/1:5,4:9:63.01:63,0,189
2 44036800 rs4952683 A G 157.73 PASS AB=0.611;AC=1;AF=0.50;AN=2;BaseQRankSum=0.272;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=1.449;QD=8.76;ReadPosRankSum=1.359;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCG5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260645 GT:AD:DP:GQ:PL 0/1:11,7:18:99:188,0,326
2 44036922 rs10186552 T C 295.60 PASS AB=0.435;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.892;DB;DP=23;Dels=0.0;FS=4.693;HRun=0;HaplotypeScore=0.9159;MQ=60.0;MQ0=0;MQRankSum=-0.217;QD=12.32;ReadPosRankSum=-0.651;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCG5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260645 GT:AD:DP:GQ:PL 0/1:10,13:23:99:326,0,358
2 44040401 rs6720173 G C 394.27 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.472;DB;DP=24;Dels=0.0;FS=1.935;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.415;QD=16.43;ReadPosRankSum=0.029;SNPEFF_AMINO_ACID_CHANGE=Q209E;SNPEFF_CODON_CHANGE=Caa/Gaa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_44039699_44040448;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCG5;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000543989 GT:AD:DP:GQ:PL 0/1:12,12:24:99:424,0,438
2 44050888 rs4148187 G A 44.45 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=14.82;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCG5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260645 GT:AD:DP:GQ:PL 0/1:1,2:3:25.32:74,0,25
2 44055446 rs4557032 G A 50.30 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.15;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCG5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260645 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
2 44071625 rs4148209 C A 260.37 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.493;DB;DP=24;Dels=0.0;FS=2.114;HRun=1;HaplotypeScore=1.8583;MQ=60.0;MQ0=0;MQRankSum=-0.908;QD=10.85;ReadPosRankSum=-0.673;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCG8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272286 GT:AD:DP:GQ:PL 0/1:14,10:24:99:290,0,466
2 44071639 rs4148210 C T 251.45 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.414;DB;DP=26;Dels=0.0;FS=1.85;HRun=1;HaplotypeScore=1.5115;MQ=60.0;MQ0=0;MQRankSum=-0.638;QD=9.67;ReadPosRankSum=0.361;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCG8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272286 GT:AD:DP:GQ:PL 0/1:16,10:26:99:281,0,514
2 44071743 rs4148211 A G 247.99 PASS AB=0.52;AC=1;AF=0.50;AN=2;BaseQRankSum=2.26;DB;DP=25;Dels=0.0;FS=15.079;HRun=0;HaplotypeScore=0.9894;MQ=60.0;MQ0=0;MQRankSum=0.927;QD=9.92;ReadPosRankSum=0.232;SNPEFF_AMINO_ACID_CHANGE=Y54C;SNPEFF_CODON_CHANGE=tAc/tGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_44071646_44071747;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCG8;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000272286 GT:AD:DP:GQ:PL 0/1:13,12:25:99:278,0,389
2 44071833 rs4148212 A C 40.94 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=13.65;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCG8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272286 GT:AD:DP:GQ:PL 0/1:1,2:3:27.95:71,0,28
2 44071852 rs4148213 G C 82.54 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.51;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCG8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272286 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:115,9,0
2 44079004 rs4148214 T C 397.71 PASS AB=0.525;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.15;DB;DP=40;Dels=0.0;FS=4.388;HRun=1;HaplotypeScore=2.5173;MQ=58.84;MQ0=0;MQRankSum=0.659;QD=9.94;ReadPosRankSum=-0.077;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCG8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272286 GT:AD:DP:GQ:PL 0/1:21,19:40:99:428,0,677
2 44101214 rs10709506 CA C 585.31 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=3.612;DB;DP=42;FS=0.0;HRun=1;HaplotypeScore=105.3509;IndelType=D;MQ=60.77;MQ0=0;MQRankSum=0.433;QD=13.94;ReadPosRankSum=-0.118;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCG8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272286 GT:AD:DP:GQ:PL 0/1:24,18:42:99:624,0,980
2 44101394 rs58702449 A G 37.93 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.026;QD=9.48;ReadPosRankSum=1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCG8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272286 GT:AD:DP:GQ:PL 0/1:2,2:4:67.92:68,0,69
2 44101430 rs4952689 T G 235.33 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.67;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.33;MQ0=0;MQRankSum=0.817;QD=16.81;ReadPosRankSum=-1.381;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCG8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272286 GT:AD:DP:GQ:PL 0/1:6,8:14:99:265,0,166
2 44101538 rs28517482 C T 726.30 PASS AB=0.635;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.351;DB;DP=74;Dels=0.01;FS=0.0;HRun=5;HaplotypeScore=2.5432;MQ=59.07;MQ0=0;MQRankSum=0.893;QD=9.68;ReadPosRankSum=0.109;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCG8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272286 GT:AD:DP:GQ:PL 0/1:47,27:74:99:756,0,1471
2 44101649 rs3841852 G GC 1043.33 PASS AB=0.653;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.346;DB;DP=62;FS=3.924;HRun=6;HaplotypeScore=148.162;IndelType=I;MQ=60.13;MQ0=0;MQRankSum=2.04;QD=16.83;ReadPosRankSum=-0.227;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCG8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272286 GT:AD:DP:GQ:PL 0/1:29,33:62:99:1082,0,397
2 44102491 rs4148221 C T 225.07 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.966;DB;DP=25;Dels=0.0;FS=1.685;HRun=0;HaplotypeScore=0.8941;MQ=59.07;MQ0=0;MQRankSum=0.439;QD=9.0;ReadPosRankSum=-1.317;SNPEFF_AMINO_ACID_CHANGE=A565;SNPEFF_CODON_CHANGE=gcC/gcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_44102285_44102552;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCG8;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000272286 GT:AD:DP:GQ:PL 0/1:15,10:25:99:255,0,499
2 44104925 rs6544718 T C 790.84 PASS AB=0.435;AC=1;AF=0.50;AN=2;BaseQRankSum=2.205;DB;DP=46;Dels=0.0;FS=2.717;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.521;QD=17.19;ReadPosRankSum=0.122;SNPEFF_AMINO_ACID_CHANGE=V632A;SNPEFF_CODON_CHANGE=gTc/gCc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_44104915_44105605;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCG8;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000272286 GT:AD:DP:GQ:PL 0/1:20,26:46:99:821,0,647
2 44116836 rs2955280 C T 717.90 PASS AB=0.468;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.325;DB;DP=47;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=59.11;MQ0=0;MQRankSum=-1.308;QD=15.27;ReadPosRankSum=-0.389;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRPPRC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260665 GT:AD:DP:GQ:PL 0/1:22,25:47:99:748,0,637
2 44145374 rs7568481 G T 873.84 PASS AB=0.476;AC=1;AF=0.50;AN=2;BaseQRankSum=4.34;DB;DP=63;Dels=0.0;FS=5.463;HRun=0;HaplotypeScore=0.8667;MQ=58.89;MQ0=0;MQRankSum=0.051;QD=13.87;ReadPosRankSum=0.137;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRPPRC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260665 GT:AD:DP:GQ:PL 0/1:30,33:63:99:904,0,887
2 44152180 rs4952694 G A 1067.93 PASS AB=0.493;AC=1;AF=0.50;AN=2;BaseQRankSum=1.305;DB;DP=71;Dels=0.0;FS=1.153;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.098;QD=15.04;ReadPosRankSum=-0.086;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRPPRC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260665 GT:AD:DP:GQ:PL 0/1:35,36:71:99:1098,0,1060
2 44152406 rs4953039 G T 391.32 PASS AB=0.435;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.83;DB;DP=23;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.651;QD=17.01;ReadPosRankSum=-1.271;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRPPRC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260665 GT:AD:DP:GQ:PL 0/1:10,13:23:99:421,0,354
2 44162166 rs11899538 A G 123.74 PASS AB=0.143;AC=1;AF=0.50;AN=2;BaseQRankSum=0.742;DB;DP=7;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.742;QD=17.68;ReadPosRankSum=0.742;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRPPRC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260665 GT:AD:DP:GQ:PL 0/1:1,6:7:20.19:154,0,20
2 44172444 rs28394191 A C 438.82 PASS AB=0.464;AC=1;AF=0.50;AN=2;BaseQRankSum=0.046;DB;DP=28;Dels=0.0;FS=2.218;HRun=1;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=-0.691;QD=15.67;ReadPosRankSum=-0.691;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRPPRC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467058 GT:AD:DP:GQ:PL 0/1:13,15:28:99:469,0,468
2 44173087 rs66626626 CAATT C 215.84 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=6;FS=0.0;HRun=0;HaplotypeScore=29.8617;IndelType=D;MQ=51.77;MQ0=0;MQRankSum=0.736;QD=35.97;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRPPRC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467058 GT:AD:DP:GQ:PL 0/1:1,5:6:60.16:255,0,60
2 44173422 rs7594526 T G 392.36 PASS AB=0.435;AC=1;AF=0.50;AN=2;BaseQRankSum=2.14;DB;DP=23;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=-1.643;QD=17.06;ReadPosRankSum=-0.713;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRPPRC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467058 GT:AD:DP:GQ:PL 0/1:10,13:23:99:422,0,348
2 44187829 rs10190161 A C 418.33 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.416;DB;DP=27;Dels=0.0;FS=3.358;HRun=0;HaplotypeScore=0.0;MQ=59.31;MQ0=0;MQRankSum=0.61;QD=15.49;ReadPosRankSum=-1.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRPPRC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409659 GT:AD:DP:GQ:PL 0/1:12,15:27:99:448,0,423
2 44206799 rs10170954 A C 129.17 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=0.322;DB;DP=8;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.322;QD=16.15;ReadPosRankSum=-1.517;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRPPRC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260665 GT:AD:DP:GQ:PL 0/1:3,5:8:99:159,0,100
2 44209477 rs6741066 C T 749.59 PASS AB=0.552;AC=1;AF=0.50;AN=2;BaseQRankSum=0.777;DB;DP=58;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.45;QD=12.7;ReadPosRankSum=1.69;SNPEFF_AMINO_ACID_CHANGE=Q56;SNPEFF_CODON_CHANGE=caG/caA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_44209377_44209573;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRPPRC;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000447246 GT:AD:DP:GQ:PL 0/1:32,26:58:99:780,0,872
2 44502788 rs3738985 A C 1221.66 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.3;MQ0=0;QD=37.02;SNPEFF_EFFECT=SPLICE_SITE_DONOR;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC3A1;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000540334 GT:AD:DP:GQ:PL 1/1:0,33:33:93.30:1255,93,0
2 44512971 rs3768919 G A 985.41 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9789;MQ=59.07;MQ0=0;QD=39.42;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC3A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260649 GT:AD:DP:GQ:PL 1/1:0,25:25:75.25:1018,75,0
2 44531081 rs4953083 G T 86.60 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.76;MQ0=0;QD=28.87;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_2_44530945_44531477;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC3A1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000409740 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:119,9,0
2 44531484 rs3738984 C T 1120.08 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9999;MQ=60.0;MQ0=0;QD=35.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC3A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000410056 GT:AD:DP:GQ:PL 1/1:0,32:32:87.27:1153,87,0
2 44547574 rs698761 G A 1898.81 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=39.56;SNPEFF_AMINO_ACID_CHANGE=M249I;SNPEFF_CODON_CHANGE=atG/atA;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_44547338_44547937;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC3A1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000409740 GT:AD:DP:GQ:PL 1/1:0,48:48:99:1932,141,0
2 44547909 rs8886 T C 210.37 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.3;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PREPL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260648 GT:AD:DP:GQ:PL 1/1:0,8:8:21.06:243,21,0
2 44548613 rs2241871 T C 979.22 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.64;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC3A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409380 GT:AD:DP:GQ:PL 1/1:0,30:30:75.22:1012,75,0
2 44549204 rs2241870 A G 93.19 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.06;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC3A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260649 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:125,9,0
2 44549229 rs2241869 G A 48.77 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=16.26;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC3A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260649 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:80,6,0
2 44550233 rs2053455 C T 321.76 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.75;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC3A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260649 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:355,27,0
2 44550290 rs2053454 A G 285.82 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.58;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC3A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260649 GT:AD:DP:GQ:PL 1/1:0,10:10:27.06:319,27,0
2 44553734 rs10183231 G A 961.84 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.47;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PREPL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260648 GT:AD:DP:GQ:PL 1/1:0,25:25:75.23:995,75,0
2 44556298 rs2033951 T C 975.49 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.52;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PREPL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260648 GT:AD:DP:GQ:PL 1/1:0,30:30:75.23:1008,75,0
2 44559583 rs76399930 G A 293.56 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.474;DB;DP=22;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.95;MQ0=0;MQRankSum=0.643;QD=13.34;ReadPosRankSum=-0.794;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PREPL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260648 GT:AD:DP:GQ:PL 0/1:11,11:22:99:324,0,352
2 44565447 rs2289463 A T 762.71 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.67;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PREPL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260648 GT:AD:DP:GQ:PL 1/1:0,22:22:60.19:796,60,0
2 44569474 rs2304769 G A 1204.83 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.87;MQ0=0;QD=36.51;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PREPL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000438314 GT:AD:DP:GQ:PL 1/1:0,33:33:93.30:1238,93,0
2 44569700 rs3217486 AAAT A 2175.21 PASS AC=2;AF=1.00;AN=2;DB;DP=53;FS=0.0;HRun=0;HaplotypeScore=316.118;IndelType=D;MQ=46.2;MQ0=0;QD=41.04;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PREPL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000438314 GT:AD:DP:GQ:PL 1/1:8,45:53:99:2217,135,0
2 44569739 rs71393260 T TA 239.21 PASS AB=0.661;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.436;DB;DP=37;FS=0.0;HRun=15;HaplotypeScore=321.2889;IndelType=I;MQ=44.84;MQ0=0;MQRankSum=-1.571;QD=6.47;ReadPosRankSum=-2.531;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PREPL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000438314 GT:AD:DP:GQ:PL 0/1:17,12:37:19.44:278,0,19
2 44570776 rs17580226 C T 666.05 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.3;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PREPL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000438314 GT:AD:DP:GQ:PL 1/1:0,20:20:51.17:699,51,0
2 44570804 rs12053381 C A 1010.86 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.44;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PREPL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000438314 GT:AD:DP:GQ:PL 1/1:0,27:27:78.26:1044,78,0
2 44573624 rs698763 G A 778.44 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.87;MQ0=0;QD=35.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PREPL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260648 GT:AD:DP:GQ:PL 1/1:0,22:22:60.20:811,60,0
2 44573658 rs698764 T C 286.01 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.39;MQ0=0;QD=31.78;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PREPL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260648 GT:AD:DP:GQ:PL 1/1:0,9:9:24.07:319,24,0
2 44573671 rs698765 G T 198.59 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PREPL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260648 GT:AD:DP:GQ:PL 1/1:0,7:7:18.06:231,18,0
2 44586379 . G A 51.22 PASS AC=2;AF=1.00;AN=2;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.61;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PREPL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260648 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
2 44617324 rs1085486 T A 1483.04 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.193;DB;DP=45;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.49;MQ0=0;MQRankSum=-1.193;QD=32.96;ReadPosRankSum=-1.193;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAMKMT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378494 GT:AD:DP:GQ:PL 1/1:1,44:45:81.64:1516,82,0
2 44618811 rs1067346 C A 914.60 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.99;MQ0=0;QD=39.77;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAMKMT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378494 GT:AD:DP:GQ:PL 1/1:0,23:23:69.23:948,69,0
2 44618897 rs1067345 G A 5160.07 PASS AC=2;AF=1.00;AN=2;DB;DP=148;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=3.9929;MQ=59.84;MQ0=0;QD=34.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAMKMT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378494 GT:AD:DP:GQ:PL 1/1:0,148:148:99:5160,379,0
2 44942384 rs343957 C G 279.24 PASS AB=0.316;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.261;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=57.66;MQ0=0;MQRankSum=0.754;QD=13.96;ReadPosRankSum=-2.663;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAMKMT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378494 GT:AD:DP:GQ:PL 0/1:6,13:20:99:309,0,194
2 44993487 rs11679997 C T 122.21 PASS AB=0.65;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.792;DB;DP=20;Dels=0.0;FS=4.559;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.902;QD=6.11;ReadPosRankSum=-0.396;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAMKMT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378494 GT:AD:DP:GQ:PL 0/1:13,7:20:99:152,0,484
2 45171842 rs62840660 A G 227.12 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.39;SNPEFF_AMINO_ACID_CHANGE=A314;SNPEFF_CODON_CHANGE=gcA/gcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_45171707_45173216;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SIX3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000260653 GT:AD:DP:GQ:PL 1/1:0,8:8:21.04:260,21,0
2 45402400 rs7595106 G A 546.85 PASS AB=0.692;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.435;DB;DP=78;Dels=0.0;FS=8.226;HRun=0;HaplotypeScore=0.9665;MQ=60.0;MQ0=0;MQRankSum=1.085;QD=7.01;ReadPosRankSum=-1.255;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AC009236.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378479 GT:AD:DP:GQ:PL 0/1:54,24:78:99:577,0,1808
2 45402571 rs11125005 A C 208 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.67;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AC009236.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378479 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:241,18,0
2 45616849 rs3731944 T C 90.39 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.134;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=7.53;ReadPosRankSum=-0.6;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SRBD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263736 GT:AD:DP:GQ:PL 0/1:8,4:12:99:120,0,296
2 45620417 rs10432665 T C 111.47 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.922;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.922;QD=13.93;ReadPosRankSum=0.421;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SRBD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263736 GT:AD:DP:GQ:PL 0/1:4,4:8:99:141,0,139
2 45647043 rs3213788 C G 273.46 PASS AB=0.613;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.191;DB;DP=31;Dels=0.0;FS=13.601;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.011;QD=8.82;ReadPosRankSum=-1.236;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SRBD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263736 GT:AD:DP:GQ:PL 0/1:19,12:31:99:303,0,527
2 45715556 rs71394834 G GAA 142.26 PASS AB=0.722;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.689;DB;DP=13;FS=0.0;HRun=11;HaplotypeScore=39.5617;IndelType=I;MQ=60.0;MQ0=0;MQRankSum=-0.244;QD=10.94;ReadPosRankSum=0.529;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SRBD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263736 GT:AD:DP:GQ:PL 0/1:8,5:13:99:181,0,163
2 45715648 rs3755080 T C 43.53 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.77;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SRBD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263736 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:75,6,0
2 45773816 rs2276657 C G 179.33 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.248;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.422;QD=19.93;ReadPosRankSum=-0.573;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SRBD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000493649 GT:AD:DP:GQ:PL 0/1:3,6:9:89.85:209,0,90
2 45774050 rs6708810 G A 56.22 PASS AB=0.727;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.715;DB;DP=11;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.382;QD=5.11;ReadPosRankSum=1.106;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SRBD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263736 GT:AD:DP:GQ:PL 0/1:8,3:11:86.22:86,0,297
2 45774548 rs1865685 A C 291.04 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.34;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SRBD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263736 GT:AD:DP:GQ:PL 1/1:0,9:9:24.08:324,24,0
2 45780962 rs3816107 C G 162.83 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=2.637;DB;DP=11;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=-0.143;QD=14.8;ReadPosRankSum=0.717;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SRBD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263736 GT:AD:DP:GQ:PL 0/1:5,6:11:99:193,0,145
2 45806963 . TA T 206.98 PASS AB=0.825;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.007;DP=93;FS=12.958;HRun=15;HaplotypeScore=582.1995;IndelType=D;MQ=53.26;MQ0=0;MQRankSum=1.147;QD=2.2;ReadPosRankSum=1.029;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SRBD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263736 GT:AD:DP:GQ:PL 0/1:67,19:93:99:246,0,953
2 45806978 rs75662016 AG A 48.94 QDFilter2 AB=0.952;AC=1;AF=0.50;AN=2;BaseQRankSum=4.941;DB;DP=118;FS=44.121;HRun=1;HaplotypeScore=687.6512;IndelType=D;MQ=54.11;MQ0=0;MQRankSum=-2.472;QD=0.41;ReadPosRankSum=-1.443;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SRBD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263736 GT:AD:DP:GQ:PL 0/1:113,6:118:87.97:88,0,1711
2 45826526 rs35501868 CT C 911.67 PASS AB=0.671;AC=1;AF=0.50;AN=2;BaseQRankSum=4.116;DB;DP=55;FS=0.0;HRun=1;HaplotypeScore=136.141;IndelType=D;MQ=61.17;MQ0=0;MQRankSum=-0.109;QD=16.58;ReadPosRankSum=0.059;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SRBD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461805 GT:AD:DP:GQ:PL 0/1:28,27:55:99:951,0,1123
2 45829286 rs12998864 A C 452.61 PASS AB=0.36;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.105;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.274;QD=18.1;ReadPosRankSum=-0.538;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SRBD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263736 GT:AD:DP:GQ:PL 0/1:9,16:25:99:483,0,299
2 45879610 rs637909 A G 115 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=49.96;MQ0=0;QD=23.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRKCE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000306156 GT:AD:DP:GQ:PL 1/1:0,5:5:12.03:147,12,0
2 46070269 rs3214783 T TC 918.85 PASS AB=0.68;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.742;DB;DP=66;FS=0.0;HRun=7;HaplotypeScore=175.8154;IndelType=I;MQ=60.21;MQ0=0;MQRankSum=1.23;QD=13.92;ReadPosRankSum=0.382;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRKCE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421201 GT:AD:DP:GQ:PL 0/1:35,31:66:99:958,0,529
2 46207567 rs2249505 C T 188.96 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.811;DB;DP=14;Dels=0.0;FS=3.358;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.093;QD=13.5;ReadPosRankSum=-0.555;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRKCE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000476675 GT:AD:DP:GQ:PL 0/1:7,7:14:99:219,0,191
2 46211935 rs2595213 T C 68.11 PASS AB=0.692;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.855;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.694;QD=5.24;ReadPosRankSum=0.849;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRKCE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000476675 GT:AD:DP:GQ:PL 0/1:9,4:13:98.10:98,0,336
2 46237446 rs1987070 C A 767.38 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.382;DB;DP=45;Dels=0.0;FS=1.647;HRun=1;HaplotypeScore=0.6651;MQ=58.97;MQ0=0;MQRankSum=-1.494;QD=17.05;ReadPosRankSum=-0.127;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRKCE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000306156 GT:AD:DP:GQ:PL 0/1:18,27:45:99:797,0,618
2 46583187 rs2278754 A T 498.20 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.35;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.83;MQ0=0;MQRankSum=0.662;QD=23.72;ReadPosRankSum=0.662;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=EPAS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263734 GT:AD:DP:GQ:PL 0/1:6,15:21:99:528,0,171
2 46583235 rs6743991 C A 1532.25 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.49;MQ0=0;QD=32.6;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=EPAS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263734 GT:AD:DP:GQ:PL 1/1:0,47:47:99:1565,117,0
2 46583278 rs61586942 C CG 435.61 PASS AB=0.761;AC=1;AF=0.50;AN=2;BaseQRankSum=4.836;DB;DP=70;FS=3.584;HRun=0;HaplotypeScore=661.0401;IndelType=I;MQ=57.58;MQ0=0;MQRankSum=-2.446;QD=6.22;ReadPosRankSum=0.662;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=EPAS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263734 GT:AD:DP:GQ:PL 0/1:48,22:70:99:475,0,1158
2 46583279 . C CT 469.81 PASS AB=0.763;AC=1;AF=0.50;AN=2;BaseQRankSum=4.856;DP=71;FS=3.515;HRun=0;HaplotypeScore=670.3818;IndelType=I;MQ=57.77;MQ0=0;MQRankSum=-1.538;QD=6.62;ReadPosRankSum=0.517;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=EPAS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263734 GT:AD:DP:GQ:PL 0/1:49,22:71:99:509,0,1092
2 46583281 rs35508970 C CT 2786.99 PASS AC=2;AF=1.00;AN=2;DB;DP=76;FS=0.0;HRun=0;HaplotypeScore=508.515;IndelType=I;MQ=57.12;MQ0=0;QD=36.67;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=EPAS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263734 GT:AD:DP:GQ:PL 1/1:30,46:76:99:2829,221,0
2 46584059 rs34136947 T G 109.04 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=2.017;DB;DP=9;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=57.39;MQ0=0;MQRankSum=0.922;QD=12.12;ReadPosRankSum=1.638;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=EPAS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475822 GT:AD:DP:GQ:PL 0/1:5,4:9:99:139,0,139
2 46706618 rs3814047 C G 199.36 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.377;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.811;QD=14.24;ReadPosRankSum=-1.093;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC018682.6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000432241 GT:AD:DP:GQ:PL 0/1:6,8:14:99:229,0,199
2 46739157 rs3814045 A G 1396.37 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.47;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ATP6V1E2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000524249 GT:AD:DP:GQ:PL 1/1:0,43:43:99:1429,117,0
2 46808243 rs17038378 GGA G 1182.21 PASS AC=2;AF=1.00;AN=2;DB;DP=25;FS=0.0;HRun=0;HaplotypeScore=84.8338;IndelType=D;MQ=54.42;MQ0=0;QD=47.29;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIGF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000306465 GT:AD:DP:GQ:PL 1/1:0,25:25:75.26:1224,75,0
2 46819815 rs2305350 A G 332.61 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.96;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIGF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281382 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:366,27,0
2 46839477 rs1824050 T C 223.95 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.88;SNPEFF_AMINO_ACID_CHANGE=A109;SNPEFF_CODON_CHANGE=gcA/gcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_46839367_46839483;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIGF;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000281382 GT:AD:DP:GQ:PL 1/1:0,9:9:18.06:257,18,0
2 46842410 rs2242033 A G 482.96 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.5;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIGF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281382 GT:AD:DP:GQ:PL 1/1:0,14:14:39.13:516,39,0
2 46845849 rs2122715 A G 752.57 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.07;MQ0=0;QD=30.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CRIPT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000238892 GT:AD:DP:GQ:PL 1/1:0,25:25:69.17:786,69,0
2 46986416 rs6738426 A G 1501.90 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.17;MQ0=0;QD=33.38;SNPEFF_AMINO_ACID_CHANGE=T249;SNPEFF_CODON_CHANGE=acA/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_46985658_46990268;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SOCS5;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000306503 GT:AD:DP:GQ:PL 1/1:0,45:45:99:1535,123,0
2 46987300 rs3768720 T G 610.60 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.14;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SOCS5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000306503 GT:AD:DP:GQ:PL 1/1:0,19:19:51.16:644,51,0
2 47045267 rs2289931 G A 165.37 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.56;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC016722.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409518 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:198,15,0
2 47045309 rs2289933 C T 253.98 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.22;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC016722.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409518 GT:AD:DP:GQ:PL 1/1:0,9:9:21.07:287,21,0
2 47045321 rs17773492 A G 94.13 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.922;DB;DP=8;Dels=0.0;FS=8.451;HRun=3;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=0.421;QD=11.77;ReadPosRankSum=1.638;SNPEFF_AMINO_ACID_CHANGE=N31D;SNPEFF_CODON_CHANGE=Aac/Gac;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_47045319_47045370;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC016722.1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000409518 GT:AD:DP:GQ:PL 0/1:4,4:8:99:124,0,107
2 47049409 rs2278715 C T 179.34 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;QD=25.62;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC016722.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479311 GT:AD:DP:GQ:PL 1/1:0,6:7:18.05:212,18,0
2 47049453 rs1053952 A G 172.25 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.45;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC016722.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479311 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:205,15,0
2 47083046 rs140311366 T A 39.56 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.55;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=61.53;MQ0=0;MQRankSum=-0.55;QD=5.65;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC016722.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000422294 GT:AD:DP:GQ:PL 0/1:3,4:7:30.29:70,0,30
2 47083252 rs11691225 G T 168.81 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.378;DB;DP=12;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=14.07;ReadPosRankSum=1.191;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC016722.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000422294 GT:AD:DP:GQ:PL 0/1:6,6:12:99:199,0,198
2 47085398 rs2278711 C T 258.38 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=3.366;DB;DP=15;Dels=0.0;FS=6.99;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.772;QD=17.23;ReadPosRankSum=2.04;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC016722.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000422294 GT:AD:DP:GQ:PL 0/1:7,8:15:99:288,0,181
2 47184208 rs118098285 C G 263.80 PASS AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=0.776;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.347;QD=13.88;ReadPosRankSum=0.857;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC7A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263737 GT:AD:DP:GQ:PL 0/1:10,9:19:99:294,0,332
2 47201991 rs67758600 CT C 209.99 PASS AC=2;AF=1.00;AN=2;DB;DP=6;FS=0.0;HRun=1;HaplotypeScore=16.0502;IndelType=D;MQ=61.78;MQ0=0;QD=35.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC7A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263737 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:252,18,0
2 47249239 rs3814036 A G 31.55 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.231;QD=6.31;ReadPosRankSum=-1.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC7A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263737 GT:AD:DP:GQ:PL 0/1:3,2:5:61.54:62,0,104
2 47251469 rs2304290 G C 82.84 PASS AB=0.773;AC=1;AF=0.50;AN=2;BaseQRankSum=0.95;DB;DP=22;Dels=0.0;FS=9.229;HRun=0;HaplotypeScore=0.0;MQ=58.08;MQ0=0;MQRankSum=-0.95;QD=3.77;ReadPosRankSum=-0.95;SNPEFF_AMINO_ACID_CHANGE=V184L;SNPEFF_CODON_CHANGE=Gtc/Ctc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_47251426_47251498;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC7A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000263737 GT:AD:DP:GQ:PL 0/1:17,5:22:99:113,0,504
2 47256297 rs2304289 C T 205.44 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.706;DB;DP=18;Dels=0.0;FS=2.392;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.088;QD=11.41;ReadPosRankSum=0.353;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC7A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263737 GT:AD:DP:GQ:PL 0/1:9,9:18:99:235,0,278
2 47256618 rs7575628 A G 129.24 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.101;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=56.35;MQ0=0;MQRankSum=-1.493;QD=9.94;ReadPosRankSum=0.377;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC7A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263737 GT:AD:DP:GQ:PL 0/1:6,7:13:99:159,0,204
2 47273668 rs12712986 G A 244.41 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.512;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.5226;MQ=60.0;MQ0=0;MQRankSum=1.299;QD=14.38;ReadPosRankSum=-1.203;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC7A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263737 GT:AD:DP:GQ:PL 0/1:8,9:17:99:274,0,295
2 47277043 rs2304287 C G 207.59 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.278;DB;DP=11;Dels=0.0;FS=4.393;HRun=1;HaplotypeScore=0.0;MQ=57.87;MQ0=0;MQRankSum=-1.034;QD=18.87;ReadPosRankSum=1.246;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC7A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263737 GT:AD:DP:GQ:PL 0/1:4,7:11:99:238,0,133
2 47278901 rs3739100 G A 282.26 PASS AB=0.548;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.681;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.29;MQ0=0;MQRankSum=1.022;QD=8.82;ReadPosRankSum=1.22;SNPEFF_AMINO_ACID_CHANGE=S324;SNPEFF_CODON_CHANGE=tcG/tcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_47278885_47279019;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC7A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000263737 GT:AD:DP:GQ:PL 0/1:17,14:32:99:312,0,388
2 47301029 rs3739099 A G 305.90 PASS AB=0.412;AC=1;AF=0.50;AN=2;BaseQRankSum=1.805;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.63;MQ0=0;MQRankSum=0.342;QD=17.99;ReadPosRankSum=-0.83;SNPEFF_AMINO_ACID_CHANGE=V494;SNPEFF_CODON_CHANGE=gtA/gtG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_47300841_47301062;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC7A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000263737 GT:AD:DP:GQ:PL 0/1:7,10:17:99:336,0,182
2 47314048 rs2280647 T C 138.63 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.268;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9987;MQ=60.0;MQ0=0;MQRankSum=-0.851;QD=13.86;ReadPosRankSum=-0.336;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf61;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000445927 GT:AD:DP:GQ:PL 0/1:5,5:10:99:169,0,179
2 47314052 rs1474394 T C 355.97 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9987;MQ=60.0;MQ0=0;QD=32.36;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf61;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000445927 GT:AD:DP:GQ:PL 1/1:0,10:11:30.10:389,30,0
2 47314492 rs10865215 A G 44.89 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.45;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf61;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000445927 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:76,6,0
2 47357458 rs58184321 A G 616.82 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf61;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294947 GT:AD:DP:GQ:PL 1/1:0,16:16:48.13:650,48,0
2 47357564 rs59073987 A T 127.53 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.88;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf61;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294947 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:160,12,0
2 47378855 rs2454081 A T 137.29 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.46;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf61;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294947 GT:AD:DP:GQ:PL 1/1:0,5:5:15.04:170,15,0
2 47380203 rs815809 T C 675.49 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.89;MQ0=0;QD=32.17;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf61;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294947 GT:AD:DP:GQ:PL 1/1:0,21:21:60.15:708,60,0
2 47382214 rs815806 C G 286.88 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.08;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf61;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294947 GT:AD:DP:GQ:PL 1/1:0,11:11:24.08:320,24,0
2 47388765 rs62140343 C G 277.60 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=14.61;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CALM2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484408 GT:AD:DP:GQ:PL 1/1:0,19:19:35.93:311,36,0
2 47388766 rs2454085 A G 265.95 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=14.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CALM2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484408 GT:AD:DP:GQ:PL 1/1:0,19:19:35.92:299,36,0
2 47389342 . ACC A 168.84 PASS AB=0.8;AC=1;AF=0.50;AN=2;BaseQRankSum=2.23;DP=20;FS=0.0;HRun=2;HaplotypeScore=208.1707;IndelType=D;MQ=47.81;MQ0=0;MQRankSum=-2.91;QD=8.44;ReadPosRankSum=-0.34;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CALM2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000489742 GT:AD:DP:GQ:PL 0/1:15,5:20:99:208,0,356
2 47601106 rs1126497 T C 446.70 PASS AB=0.579;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.173;DB;DP=38;Dels=0.0;FS=13.265;HRun=0;HaplotypeScore=0.9983;MQ=60.0;MQ0=0;MQRankSum=-0.37;QD=11.76;ReadPosRankSum=1.523;SNPEFF_AMINO_ACID_CHANGE=M115T;SNPEFF_CODON_CHANGE=aTg/aCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_47600947_47601187;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPCAM;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000263735 GT:AD:DP:GQ:PL 0/1:22,16:38:99:477,0,686
2 47612224 rs7584256 C T 1016.08 PASS AB=0.523;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.478;DB;DP=65;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=60.0;MQ0=0;MQRankSum=-0.007;QD=15.63;ReadPosRankSum=-0.19;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPCAM;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263735 GT:AD:DP:GQ:PL 0/1:34,31:65:99:1046,0,1141
2 47613870 rs1421 T C 257.70 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.258;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.158;QD=16.11;ReadPosRankSum=-0.473;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPCAM;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000490733 GT:AD:DP:GQ:PL 0/1:8,8:16:99:288,0,274
2 47630550 rs2303426 C G 43.53 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.77;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MSH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233146 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:75,6,0
2 47637065 rs17217758 C T 107.86 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=55.21;MQ0=0;MQRankSum=0.731;QD=21.57;ReadPosRankSum=0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MSH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233146 GT:AD:DP:GQ:PL 0/1:1,4:5:26.19:138,0,26
2 47656801 rs2347794 G A 146 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.729;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.361;QD=16.22;ReadPosRankSum=0.361;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MSH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233146 GT:AD:DP:GQ:PL 0/1:4,5:9:99:176,0,140
2 47690404 rs3771278 T C 163.88 SnpCluster AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=0.449;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=54.95;MQ0=0;MQRankSum=0.367;QD=8.63;ReadPosRankSum=-1.266;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MSH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233146 GT:AD:DP:GQ:PL 0/1:10,9:19:99:194,0,314
2 47690408 rs3771279 A G 145.44 SnpCluster AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.694;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=54.95;MQ0=0;MQRankSum=-0.939;QD=7.65;ReadPosRankSum=-1.347;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MSH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233146 GT:AD:DP:GQ:PL 0/1:10,9:19:99:175,0,323
2 47690411 rs3771280 T C 114.15 SnpCluster AB=0.588;AC=1;AF=0.50;AN=2;BaseQRankSum=1.025;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=54.32;MQ0=0;MQRankSum=0.342;QD=6.71;ReadPosRankSum=-0.537;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MSH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233146 GT:AD:DP:GQ:PL 0/1:10,7:17:99:144,0,326
2 47693706 rs3732182 G T 269.57 PASS AB=0.438;AC=1;AF=0.50;AN=2;BaseQRankSum=1.164;DB;DP=16;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.318;QD=16.85;ReadPosRankSum=0.318;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MSH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000422810 GT:AD:DP:GQ:PL 0/1:7,9:16:99:300,0,221
2 47693788 rs12998837 A T 617.36 PASS AB=0.549;AC=1;AF=0.50;AN=2;BaseQRankSum=1.278;DB;DP=51;Dels=0.0;FS=6.838;HRun=2;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=-0.293;QD=12.11;ReadPosRankSum=1.505;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MSH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000422810 GT:AD:DP:GQ:PL 0/1:28,23:51:99:647,0,937
2 47693959 rs3732183 G A 558.84 PASS AB=0.543;AC=1;AF=0.50;AN=2;BaseQRankSum=3.198;DB;DP=46;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.544;QD=12.15;ReadPosRankSum=-0.419;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MSH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000422810 GT:AD:DP:GQ:PL 0/1:25,21:46:99:589,0,759
2 47698297 . C A 99.53 HaplotypeScoreFilter13 AB=0.261;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.219;DP=23;Dels=0.0;FS=3.424;HRun=2;HaplotypeScore=15.9022;MQ=42.43;MQ0=0;MQRankSum=-2.297;QD=4.33;ReadPosRankSum=2.764;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MSH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233146 GT:AD:DP:GQ:PL 0/1:6,17:23:99:130,0,156
2 47698308 rs3764959 A G 101.12 PASS AB=0.687;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.246;DB;DP=16;Dels=0.0;FS=5.051;HRun=0;HaplotypeScore=0.0;MQ=41.27;MQ0=0;MQRankSum=-0.453;QD=6.32;ReadPosRankSum=-0.34;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MSH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233146 GT:AD:DP:GQ:PL 0/1:11,5:16:99:131,0,224
2 47703885 rs4583514 G A 40 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=13.33;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MSH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233146 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:71,6,0
2 47739551 rs2303424 A G 619.84 PASS AB=0.436;AC=1;AF=0.50;AN=2;BaseQRankSum=0.637;DB;DP=39;Dels=0.0;FS=3.331;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.751;QD=15.89;ReadPosRankSum=0.581;SNPEFF_AMINO_ACID_CHANGE=Q915R;SNPEFF_CODON_CHANGE=cAg/cGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_47739442_47740373;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MSH2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000406134 GT:AD:DP:GQ:PL 0/1:17,22:39:99:650,0,552
2 48010488 rs1042821 G A 202.07 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.521;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.058;QD=12.63;ReadPosRankSum=-0.405;SNPEFF_AMINO_ACID_CHANGE=G39E;SNPEFF_CODON_CHANGE=gGg/gAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_48010221_48010632;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MSH6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000234420 GT:AD:DP:GQ:PL 0/1:8,8:16:99:232,0,268
2 48022981 rs1800934 G T 36.72 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=7.34;ReadPosRankSum=-0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=FBXO11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000405808 GT:AD:DP:GQ:PL 0/1:3,2:5:66.72:67,0,110
2 48030458 rs2072447 G C 227.39 PASS AB=0.357;AC=1;AF=0.50;AN=2;BaseQRankSum=1.333;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.6;QD=16.24;ReadPosRankSum=-0.533;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=FBXO11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000316377 GT:AD:DP:GQ:PL 0/1:5,9:14:99:257,0,168
2 48033890 rs59056100 CT C 50.14 QDFilter2 AB=0.756;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.849;DB;DP=34;FS=2.187;HRun=18;HaplotypeScore=303.3376;IndelType=D;MQ=54.32;MQ0=0;MQRankSum=-0.52;QD=1.47;ReadPosRankSum=0.356;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=FBXO11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000316377 GT:AD:DP:GQ:PL 0/1:23,10:34:89.17:89,0,196
2 48040904 rs77079615 G GA 788.48 PASS AC=2;AF=1.00;AN=2;DB;DP=23;FS=0.0;HRun=6;HaplotypeScore=48.1574;IndelType=I;MQ=60.93;MQ0=0;QD=34.28;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=FBXO11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000492225 GT:AD:DP:GQ:PL 1/1:0,23:23:66.21:831,66,0
2 48046012 . TA T 157.07 QDFilter2 AB=0.82;AC=1;AF=0.50;AN=2;BaseQRankSum=2.439;DP=100;FS=1.28;HRun=15;HaplotypeScore=626.442;IndelType=D;MQ=55.59;MQ0=0;MQRankSum=0.363;QD=1.57;ReadPosRankSum=-1.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=FBXO11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000316377 GT:AD:DP:GQ:PL 0/1:74,21:100:99:196,0,1072
2 48059471 rs71956017 AAAAT A 493.47 PASS AB=0.782;AC=1;AF=0.50;AN=2;BaseQRankSum=4.698;DB;DP=43;FS=1.328;HRun=0;HaplotypeScore=185.8924;IndelType=D;MQ=58.63;MQ0=0;MQRankSum=0.284;QD=11.48;ReadPosRankSum=0.284;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=FBXO11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378314 GT:AD:DP:GQ:PL 0/1:31,12:43:99:532,0,2409
2 48681997 rs77272589 G C 169.15 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.177;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.55;MQ0=0;MQRankSum=-0.295;QD=10.57;ReadPosRankSum=0.884;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=KLRAQ1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421486 GT:AD:DP:GQ:PL 0/1:9,6:16:99:199,0,314
2 48688463 rs36022363 A C 88.77 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.825;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.05;MQ0=0;MQRankSum=0.929;QD=7.4;ReadPosRankSum=0.929;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=KLRAQ1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281394 GT:AD:DP:GQ:PL 0/1:8,4:12:99:119,0,283
2 48713777 rs33994624 C T 506.50 PASS AB=0.469;AC=1;AF=0.50;AN=2;BaseQRankSum=0.453;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.28;MQ0=0;MQRankSum=-0.151;QD=15.83;ReadPosRankSum=0.491;SNPEFF_AMINO_ACID_CHANGE=S442;SNPEFF_CODON_CHANGE=tcC/tcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_48713770_48713897;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=KLRAQ1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000281394 GT:AD:DP:GQ:PL 0/1:15,17:32:99:536,0,434
2 48722755 rs4443044 T C 1281.31 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.69;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=KLRAQ1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281394 GT:AD:DP:GQ:PL 1/1:0,34:34:96.31:1314,96,0
2 48723183 rs6545042 G A 119.78 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.94;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=KLRAQ1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281394 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:152,12,0
2 48725610 rs3811519 C T 631.36 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=39.46;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=KLRAQ1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281394 GT:AD:DP:GQ:PL 1/1:0,16:16:48.16:664,48,0
2 48732944 rs4293602 A G 131.84 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.96;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=KLRAQ1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281394 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:164,12,0
2 48734576 rs6716341 G A 838.77 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;QD=31.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=KLRAQ1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281394 GT:AD:DP:GQ:PL 1/1:0,27:27:66.18:872,66,0
2 48734725 rs6744619 A C 46.24 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.12;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=KLRAQ1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281394 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:77,6,0
2 48738687 rs4528813 G C 850.47 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.98;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=KLRAQ1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000431614 GT:AD:DP:GQ:PL 1/1:0,23:23:66.19:883,66,0
2 48741595 rs11677398 T A 51.64 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.82;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=KLRAQ1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000431614 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:83,6,0
2 48756555 rs6733533 A C 425.39 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.05;MQ0=0;QD=35.45;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=STON1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484110 GT:AD:DP:GQ:PL 1/1:0,12:12:36.10:458,36,0
2 48807796 rs17039250 A C 773.94 PASS AB=0.525;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.691;DB;DP=61;Dels=0.0;FS=2.209;HRun=0;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=-0.099;QD=12.69;ReadPosRankSum=0.873;SNPEFF_AMINO_ACID_CHANGE=K8N;SNPEFF_CODON_CHANGE=aaA/aaC;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_48807724_48809702;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STON1-GTF2A1L;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000309827 GT:AD:DP:GQ:PL 0/1:32,29:61:99:804,0,899
2 48807976 rs3828340 T C 795.34 PASS AB=0.516;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.261;DB;DP=62;Dels=0.0;FS=10.8;HRun=0;HaplotypeScore=0.0;MQ=59.63;MQ0=0;MQRankSum=-0.387;QD=12.83;ReadPosRankSum=-0.373;SNPEFF_AMINO_ACID_CHANGE=D68;SNPEFF_CODON_CHANGE=gaT/gaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_48807724_48809702;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STON1-GTF2A1L;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000309827 GT:AD:DP:GQ:PL 0/1:32,30:62:99:825,0,1016
2 48808152 rs940389 G C 748.28 PASS AB=0.525;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.559;DB;DP=59;Dels=0.0;FS=3.751;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.374;QD=12.68;ReadPosRankSum=1.2;SNPEFF_AMINO_ACID_CHANGE=R127T;SNPEFF_CODON_CHANGE=aGa/aCa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_48807724_48809702;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STON1-GTF2A1L;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000309827 GT:AD:DP:GQ:PL 0/1:31,28:59:99:778,0,1000
2 48808594 rs3749142 C T 854.56 PASS AB=0.469;AC=1;AF=0.50;AN=2;BaseQRankSum=0.952;DB;DP=49;Dels=0.0;FS=10.717;HRun=0;HaplotypeScore=0.9993;MQ=60.0;MQ0=0;MQRankSum=-1.092;QD=17.44;ReadPosRankSum=0.11;SNPEFF_AMINO_ACID_CHANGE=S274;SNPEFF_CODON_CHANGE=tcC/tcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_48807724_48809702;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STON1-GTF2A1L;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000309827 GT:AD:DP:GQ:PL 0/1:23,26:49:99:885,0,758
2 48808882 rs3749144 T A 630.32 PASS AB=0.593;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.318;DB;DP=54;Dels=0.0;FS=1.117;HRun=0;HaplotypeScore=1.81;MQ=60.0;MQ0=0;MQRankSum=-0.704;QD=11.67;ReadPosRankSum=1.148;SNPEFF_AMINO_ACID_CHANGE=P370;SNPEFF_CODON_CHANGE=ccT/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_48807724_48809702;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STON1-GTF2A1L;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000309827 GT:AD:DP:GQ:PL 0/1:32,22:54:99:660,0,906
2 48808898 rs3749145 C T 479.62 PASS AB=0.609;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.346;DB;DP=46;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.129;QD=10.43;ReadPosRankSum=0.644;SNPEFF_AMINO_ACID_CHANGE=L376;SNPEFF_CODON_CHANGE=Ctg/Ttg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_48807724_48809702;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STON1-GTF2A1L;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000309827 GT:AD:DP:GQ:PL 0/1:28,18:46:99:510,0,897
2 48809593 rs3792234 G T 1124.11 PASS AB=0.433;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.214;DB;DP=67;Dels=0.0;FS=8.546;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=0.349;QD=16.78;ReadPosRankSum=-2.261;SNPEFF_AMINO_ACID_CHANGE=Q607H;SNPEFF_CODON_CHANGE=caG/caT;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_48807724_48809702;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STON1-GTF2A1L;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000309827 GT:AD:DP:GQ:PL 0/1:29,38:67:99:1154,0,910
2 48809756 rs3792235 T C 389 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.439;DB;DP=24;Dels=0.0;FS=4.465;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.259;QD=16.21;ReadPosRankSum=1.083;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STON1-GTF2A1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309827 GT:AD:DP:GQ:PL 0/1:10,14:24:99:419,0,299
2 48809873 rs3792236 T C 145.22 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.637;DB;DP=11;Dels=0.0;FS=3.424;HRun=0;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=-1.932;QD=13.2;ReadPosRankSum=1.031;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STON1-GTF2A1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309827 GT:AD:DP:GQ:PL 0/1:5,6:11:99:175,0,139
2 48822381 rs2140551 G A 264.29 PASS AB=0.412;AC=1;AF=0.50;AN=2;BaseQRankSum=0.922;DB;DP=17;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=58.63;MQ0=0;MQRankSum=-0.271;QD=15.55;ReadPosRankSum=-1.03;SNPEFF_AMINO_ACID_CHANGE=K716;SNPEFF_CODON_CHANGE=aaG/aaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_48822367_48826025;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=STON1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000309835 GT:AD:DP:GQ:PL 0/1:7,10:17:99:294,0,204
2 48848295 rs13035544 C T 265.07 PASS AB=0.529;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.156;DB;DP=34;Dels=0.0;FS=0.0;HRun=9;HaplotypeScore=0.9993;MQ=60.0;MQ0=0;MQRankSum=-1.535;QD=7.8;ReadPosRankSum=-0.19;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GTF2A1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000403751 GT:AD:DP:GQ:PL 0/1:18,16:34:99:295,0,617
2 48897272 rs11899239 A C 85.81 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.55;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.28;MQ0=0;MQRankSum=0.55;QD=12.26;ReadPosRankSum=-0.937;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GTF2A1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000403751 GT:AD:DP:GQ:PL 0/1:3,4:7:92.09:116,0,92
2 48898539 rs7562038 C T 39.61 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=13.2;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GTF2A1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000403751 GT:AD:DP:GQ:PL 0/1:1,2:3:32.73:70,0,33
2 48898798 rs3920390 T A 2393.40 PASS AC=2;AF=1.00;AN=2;DB;DP=79;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=6.4214;MQ=59.71;MQ0=0;QD=30.3;SNPEFF_AMINO_ACID_CHANGE=V1093;SNPEFF_CODON_CHANGE=gtT/gtA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_48898730_48898819;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STON1-GTF2A1L;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000394751 GT:AD:DP:GQ:PL 1/1:0,78:79:99:2426,181,0
2 48906360 rs1464728 A G 121.30 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GTF2A1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000403751 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:154,12,0
2 48906625 rs1965508 T C 805.95 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GTF2A1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000508440 GT:AD:DP:GQ:PL 1/1:0,21:21:63.21:839,63,0
2 48915871 rs11125179 A G 1587.53 PASS AB=0.453;AC=1;AF=0.50;AN=2;BaseQRankSum=0.683;DB;DP=95;Dels=0.0;FS=5.234;HRun=0;HaplotypeScore=1.5518;MQ=59.51;MQ0=0;MQRankSum=-0.971;QD=16.71;ReadPosRankSum=-0.949;SNPEFF_AMINO_ACID_CHANGE=D293;SNPEFF_CODON_CHANGE=gaT/gaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_48913921_48915988;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=LHCGR;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000344775 GT:AD:DP:GQ:PL 0/1:43,52:95:99:1618,0,1184
2 48921375 rs2293275 T C 336.08 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.733;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.196;QD=16.8;ReadPosRankSum=1.813;SNPEFF_AMINO_ACID_CHANGE=N250S;SNPEFF_CODON_CHANGE=aAt/aGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_48921363_48921443;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=LHCGR;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000344775 GT:AD:DP:GQ:PL 0/1:8,12:20:99:366,0,202
2 48925746 rs6755901 C T 1387.84 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=59.42;MQ0=0;QD=34.7;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GTF2A1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000508440 GT:AD:DP:GQ:PL 1/1:0,40:40:99:1421,108,0
2 48935849 rs6733079 T C 45.13 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.57;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=LHCGR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477576 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:76,6,0
2 48935930 rs34594563 T C 344.15 PASS AB=0.214;AC=1;AF=0.50;AN=2;BaseQRankSum=1.401;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.33;MQ0=0;MQRankSum=1.868;QD=24.58;ReadPosRankSum=-0.778;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GTF2A1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000508440 GT:AD:DP:GQ:PL 0/1:3,11:14:69.50:374,0,70
2 48948707 rs68073206 A C 40.94 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=4.771;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=13.65;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GTF2A1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000508440 GT:AD:DP:GQ:PL 0/1:1,2:3:32.73:71,0,33
2 48950723 . A G 535.69 PASS AB=0.558;AC=1;AF=0.50;AN=2;BaseQRankSum=1.651;DP=43;Dels=0.0;FS=2.929;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.428;QD=12.46;ReadPosRankSum=-1.015;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GTF2A1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000508440 GT:AD:DP:GQ:PL 0/1:24,19:43:99:566,0,823
2 48952574 rs6545061 C T 78.95 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=19.74;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GTF2A1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000508440 GT:AD:DP:GQ:PL 0/1:1,3:4:26.54:109,0,27
2 48952624 rs6545062 G A 342.92 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.29;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GTF2A1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000508440 GT:AD:DP:GQ:PL 1/1:0,10:10:30.07:376,30,0
2 48952701 rs6545063 C G 902.73 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.03;MQ0=0;QD=37.61;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GTF2A1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000508440 GT:AD:DP:GQ:PL 1/1:0,24:24:72.22:936,72,0
2 49189921 rs6166 C T 1096.11 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.22;SNPEFF_AMINO_ACID_CHANGE=S416N;SNPEFF_CODON_CHANGE=aGt/aAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_49189854_49191105;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FSHR;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000541117 GT:AD:DP:GQ:PL 1/1:0,33:33:84.26:1129,84,0
2 49191041 rs6165 C T 4284.99 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.355;DB;DP=129;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.787;MQ=59.17;MQ0=0;MQRankSum=0.125;QD=33.22;ReadPosRankSum=0.298;SNPEFF_AMINO_ACID_CHANGE=A245T;SNPEFF_CODON_CHANGE=Gct/Act;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_49189296_49191105;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FSHR;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000346173 GT:AD:DP:GQ:PL 1/1:2,127:129:99:4285,280,0
2 49215977 rs2072488 G A 46.65 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FSHR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304421 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:78,6,0
2 49216284 rs2072487 C T 208.72 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.82;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FSHR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304421 GT:AD:DP:GQ:PL 1/1:0,7:7:18.06:242,18,0
2 49217916 rs2072486 T G 51.22 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.61;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FSHR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304421 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
2 49244559 rs2091787 A G 108.47 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=0.876;DB;DP=9;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.881;QD=12.05;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FSHR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304421 GT:AD:DP:GQ:PL 0/1:4,5:9:99:138,0,123
2 49381585 rs1394205 C T 751.22 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.8321;MQ=59.11;MQ0=0;QD=28.89;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FSHR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000454032 GT:AD:DP:GQ:PL 1/1:0,26:26:60.19:784,60,0
2 49510173 rs7578654 A C 6726.39 PASS AC=2;AF=1.00;AN=2;DB;DP=203;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.7887;MQ=59.77;MQ0=0;QD=33.13;SNPEFF_EFFECT=INTERGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 1/1:0,203:203:99:6726,509,0
2 50106569 rs71401050 G GAAAC 503.52 PASS AB=0.778;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.413;DB;DP=28;FS=0.0;HRun=0;HaplotypeScore=100.9432;IndelType=I;MQ=59.35;MQ0=0;MQRankSum=0.158;QD=17.98;ReadPosRankSum=-0.053;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=AC078994.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000415103 GT:AD:DP:GQ:PL 0/1:20,8:28:99:543,0,336
2 50170729 rs1345562 G C 52.28 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NRXN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342183 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
2 50201110 rs9636391 A G 3016.36 PASS AC=2;AF=1.00;AN=2;DB;DP=100;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.58;MQ0=0;QD=30.16;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NRXN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342183 GT:AD:DP:GQ:PL 1/1:0,100:100:99:3049,238,0
2 50246637 rs10188520 C T 48.08 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.04;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NRXN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342183 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
2 50280283 rs1363050 T C 521.75 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.33;MQ0=0;QD=37.27;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NRXN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342183 GT:AD:DP:GQ:PL 1/1:0,14:14:42.14:555,42,0
2 50280338 rs1363049 G A 1293.13 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.92;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NRXN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342183 GT:AD:DP:GQ:PL 1/1:0,36:36:96.32:1326,96,0
2 50692358 rs1879318 C T 197.80 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NRXN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401669 GT:AD:DP:GQ:PL 1/1:0,7:7:18.04:231,18,0
2 50692560 rs3213756 A G 994.02 PASS AB=0.493;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.022;DB;DP=73;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.146;QD=13.62;ReadPosRankSum=1.037;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NRXN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401669 GT:AD:DP:GQ:PL 0/1:36,37:73:99:1024,0,1142
2 50692819 rs10168838 T G 489.90 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.99;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NRXN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401669 GT:AD:DP:GQ:PL 1/1:0,14:14:42.12:523,42,0
2 50693504 rs75315267 AAC A 206.64 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=2.383;DB;DP=10;FS=0.0;HRun=0;HaplotypeScore=31.1722;IndelType=D;MQ=58.77;MQ0=0;MQRankSum=0.365;QD=20.66;ReadPosRankSum=0.741;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NRXN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401669 GT:AD:DP:GQ:PL 0/1:4,6:10:99:246,0,202
2 50699305 rs2075234 T A 309.64 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.966;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.439;QD=12.9;ReadPosRankSum=0.381;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NRXN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401669 GT:AD:DP:GQ:PL 0/1:14,10:24:99:340,0,496
2 50699758 rs2075233 C T 50.98 PASS AB=0.688;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.246;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=60.0;MQ0=0;MQRankSum=-1.586;QD=3.19;ReadPosRankSum=-1.699;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NRXN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401669 GT:AD:DP:GQ:PL 0/1:11,5:16:80.97:81,0,410
2 50722928 rs2241175 G T 198.34 PASS AB=0.692;AC=1;AF=0.50;AN=2;BaseQRankSum=0.639;DB;DP=26;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.194;QD=7.63;ReadPosRankSum=0.25;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NRXN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462791 GT:AD:DP:GQ:PL 0/1:18,8:26:99:228,0,625
2 50733545 rs13008919 G T 743.40 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=0.582;DB;DP=45;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.59;MQ0=0;MQRankSum=0.811;QD=16.52;ReadPosRankSum=1.45;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NRXN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401669 GT:AD:DP:GQ:PL 0/1:20,25:45:99:773,0,671
2 50733860 rs7584062 A G 968.21 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.39;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NRXN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401669 GT:AD:DP:GQ:PL 1/1:0,29:29:75.25:1001,75,0
2 50758309 rs5831131 C CA 461.50 PASS AC=2;AF=1.00;AN=2;DB;DP=16;FS=0.0;HRun=3;HaplotypeScore=35.2914;IndelType=I;MQ=59.24;MQ0=0;QD=28.84;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NRXN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401669 GT:AD:DP:GQ:PL 1/1:5,11:16:36.12:504,36,0
2 50758657 rs2066948 T C 637.91 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.52;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NRXN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401669 GT:AD:DP:GQ:PL 1/1:0,17:17:51.16:671,51,0
2 50765228 rs72882073 A G 43.66 PASS AB=0.786;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.62;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.0;MQ0=0;MQRankSum=-0.592;QD=3.12;ReadPosRankSum=-0.592;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NRXN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401669 GT:AD:DP:GQ:PL 0/1:11,3:14:73.66:74,0,364
2 50780219 rs13429627 T G 1018.32 PASS AB=0.475;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.497;DB;DP=61;Dels=0.0;FS=7.574;HRun=0;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=-1.015;QD=16.69;ReadPosRankSum=0.081;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NRXN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401669 GT:AD:DP:GQ:PL 0/1:29,32:61:99:1048,0,895
2 50858107 rs961405 T A 40.94 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=13.65;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NRXN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401669 GT:AD:DP:GQ:PL 0/1:1,2:3:33.20:71,0,33
2 50923313 . CGTGT C 197.51 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.589;DP=10;FS=0.0;HRun=0;HaplotypeScore=62.8668;IndelType=D;MQ=59.87;MQ0=0;MQRankSum=1.589;QD=19.75;ReadPosRankSum=0.572;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NRXN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401669 GT:AD:DP:GQ:PL 0/1:2,6:10:1.02:235,0,1
2 50966161 rs1713859 G A 50.63 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NRXN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401669 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
2 50966283 rs1546667 C T 2319.10 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.62;MQ0=0;QD=38.02;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NRXN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401669 GT:AD:DP:GQ:PL 1/1:0,61:61:99:2352,175,0
2 51125707 rs62140645 C G 919.82 PASS AB=0.607;AC=1;AF=0.50;AN=2;BaseQRankSum=1.301;DB;DP=84;Dels=0.0;FS=1.941;HRun=3;HaplotypeScore=1.3123;MQ=60.0;MQ0=0;MQRankSum=-0.843;QD=10.95;ReadPosRankSum=1.438;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NRXN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401669 GT:AD:DP:GQ:PL 0/1:51,33:84:99:950,0,1531
2 51148872 rs36106628 T A 376.48 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=58.2;MQ0=0;QD=28.96;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NRXN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000496792 GT:AD:DP:GQ:PL 1/1:0,13:13:33.10:409,33,0
2 51206342 rs35296842 C G 2378.95 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.04;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NRXN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401669 GT:AD:DP:GQ:PL 1/1:0,66:66:99:2412,181,0
2 53897525 rs3930 C G 38.95 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=7.79;ReadPosRankSum=0.358;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASB3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470707 GT:AD:DP:GQ:PL 0/1:3,2:5:68.94:69,0,110
2 53920931 rs7563054 G A 298.11 PASS AB=0.63;AC=1;AF=0.50;AN=2;BaseQRankSum=3.138;DB;DP=27;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.029;QD=11.04;ReadPosRankSum=0.879;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASB3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263634 GT:AD:DP:GQ:PL 0/1:17,10:27:99:328,0,529
2 53921270 rs3731970 C T 113.57 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.38;QD=18.93;ReadPosRankSum=0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASB3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263634 GT:AD:DP:GQ:PL 0/1:2,4:6:64.59:144,0,65
2 53943696 rs3213768 C T 974.95 PASS AB=0.568;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.806;DB;DP=81;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=0.348;QD=12.04;ReadPosRankSum=-0.272;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASB3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263634 GT:AD:DP:GQ:PL 0/1:46,35:81:99:1005,0,1381
2 53955741 rs77366072 C T 467.28 PASS AB=0.407;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.282;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.14;MQ0=0;MQRankSum=-1.357;QD=17.31;ReadPosRankSum=-0.222;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASB3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000480522 GT:AD:DP:GQ:PL 0/1:11,16:27:99:497,0,382
2 53978187 rs115817165 G A 148.96 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.133;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.741;QD=14.9;ReadPosRankSum=-1.036;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASB3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263634 GT:AD:DP:GQ:PL 0/1:4,6:10:99:179,0,132
2 53992593 rs2287339 A T 1646.96 PASS AB=0.504;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.137;DB;DP=115;Dels=0.0;FS=0.699;HRun=0;HaplotypeScore=0.0;MQ=59.44;MQ0=0;MQRankSum=1.446;QD=14.32;ReadPosRankSum=-1.793;SNPEFF_AMINO_ACID_CHANGE=A39;SNPEFF_CODON_CHANGE=gcT/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_53992514_53992722;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASB3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000263634 GT:AD:DP:GQ:PL 0/1:58,57:115:99:1677,0,1811
2 53995003 rs114675546 G T 89.28 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.922;QD=11.16;ReadPosRankSum=-0.421;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASB3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263634 GT:AD:DP:GQ:PL 0/1:4,4:8:99:119,0,108
2 54014558 rs2287342 G T 527.24 PASS AB=0.463;AC=1;AF=0.50;AN=2;BaseQRankSum=0.379;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=0.211;QD=12.86;ReadPosRankSum=-0.492;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASB3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000352846 GT:AD:DP:GQ:PL 0/1:19,22:41:99:557,0,588
2 54023247 rs113209514 GT G 97.42 PASS AB=0.696;AC=1;AF=0.50;AN=2;BaseQRankSum=1.635;DB;DP=16;FS=0.0;HRun=11;HaplotypeScore=39.4723;IndelType=D;MQ=60.0;MQ0=0;MQRankSum=-0.689;QD=6.09;ReadPosRankSum=0.831;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ERLEC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000494373 GT:AD:DP:GQ:PL 0/1:9,7:16:99:136,0,122
2 54024626 rs2692514 C T 182.97 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.365;DB;DP=28;Dels=0.0;FS=1.939;HRun=0;HaplotypeScore=0.5784;MQ=59.33;MQ0=0;MQRankSum=-1.297;QD=6.53;ReadPosRankSum=-0.788;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ERLEC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000494373 GT:AD:DP:GQ:PL 0/1:20,8:28:99:213,0,569
2 54035261 . T C 38.95 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.358;QD=6.49;ReadPosRankSum=1.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASB3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000352846 GT:AD:DP:GQ:PL 0/1:4,2:6:68.94:69,0,112
2 54035650 rs2287346 G A 237.01 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=1.78;DB;DP=17;Dels=0.0;FS=2.077;HRun=0;HaplotypeScore=0.9958;MQ=60.0;MQ0=0;MQRankSum=-0.144;QD=13.94;ReadPosRankSum=-1.01;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASB3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000352846 GT:AD:DP:GQ:PL 0/1:8,9:17:99:267,0,252
2 54041983 rs2542571 G T 710.51 PASS AB=0.468;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.243;DB;DP=47;Dels=0.0;FS=7.179;HRun=1;HaplotypeScore=1.7791;MQ=55.42;MQ0=0;MQRankSum=0.794;QD=15.12;ReadPosRankSum=1.014;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASB3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000352846 GT:AD:DP:GQ:PL 0/1:22,25:47:99:741,0,523
2 54114221 rs805397 T C 38.48 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.358;QD=7.7;ReadPosRankSum=1.231;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSME4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478731 GT:AD:DP:GQ:PL 0/1:3,2:5:68.47:68,0,99
2 54114967 rs805399 G A 404.71 PASS AB=0.36;AC=1;AF=0.50;AN=2;BaseQRankSum=1.848;DB;DP=25;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.31;MQ0=0;MQRankSum=1.133;QD=16.19;ReadPosRankSum=0.894;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSME4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000404125 GT:AD:DP:GQ:PL 0/1:9,16:25:99:435,0,301
2 54115904 rs805400 A G 1022.78 PASS AB=0.532;AC=1;AF=0.50;AN=2;BaseQRankSum=2.697;DB;DP=79;Dels=0.0;FS=3.087;HRun=0;HaplotypeScore=0.9947;MQ=60.0;MQ0=0;MQRankSum=-0.241;QD=12.95;ReadPosRankSum=0.142;SNPEFF_AMINO_ACID_CHANGE=L1448;SNPEFF_CODON_CHANGE=Ttg/Ctg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_54115858_54115949;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSME4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000404125 GT:AD:DP:GQ:PL 0/1:42,37:79:99:1053,0,1161
2 54116003 rs805401 C T 184.15 PASS AB=0.591;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.604;DB;DP=22;Dels=0.0;FS=3.882;HRun=0;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=-0.467;QD=8.37;ReadPosRankSum=0.067;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSME4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000404125 GT:AD:DP:GQ:PL 0/1:13,9:22:99:214,0,482
2 54120025 rs805408 A T 865.92 PASS AB=0.302;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.97;DB;DP=43;Dels=0.0;FS=5.181;HRun=0;HaplotypeScore=0.0;MQ=59.46;MQ0=0;MQRankSum=-0.648;QD=20.14;ReadPosRankSum=-1.944;SNPEFF_AMINO_ACID_CHANGE=S1371T;SNPEFF_CODON_CHANGE=Tca/Aca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_54119945_54120097;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSME4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000404125 GT:AD:DP:GQ:PL 0/1:13,30:43:99:896,0,424
2 54120204 rs805409 A G 113.62 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.21;MQ0=0;MQRankSum=0.731;QD=22.72;ReadPosRankSum=0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSME4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000404125 GT:AD:DP:GQ:PL 0/1:1,4:5:25.60:144,0,26
2 54120591 rs805411 C T 35.61 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.231;QD=7.12;ReadPosRankSum=0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSME4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000404125 GT:AD:DP:GQ:PL 0/1:3,2:5:65.60:66,0,108
2 54120820 rs805412 G A 951.38 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.69;DB;DP=76;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=-0.143;QD=12.52;ReadPosRankSum=-1.616;SNPEFF_AMINO_ACID_CHANGE=C1343;SNPEFF_CODON_CHANGE=tgC/tgT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_54120811_54120936;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSME4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000404125 GT:AD:DP:GQ:PL 0/1:38,38:76:99:981,0,1238
2 54122646 rs2302876 C T 691.37 PASS AB=0.415;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.331;DB;DP=41;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.6988;MQ=60.0;MQ0=0;MQRankSum=-0.887;QD=16.86;ReadPosRankSum=0.966;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSME4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000404125 GT:AD:DP:GQ:PL 0/1:17,24:41:99:721,0,560
2 54122956 rs698856 A G 375.16 PASS AB=0.353;AC=1;AF=0.50;AN=2;BaseQRankSum=0.955;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.452;QD=22.07;ReadPosRankSum=0.251;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSME4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000404125 GT:AD:DP:GQ:PL 0/1:6,11:17:99:405,0,184
2 54122984 rs698857 C T 241.35 PASS AB=0.273;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.106;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.715;QD=21.94;ReadPosRankSum=0.566;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSME4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000404125 GT:AD:DP:GQ:PL 0/1:3,8:11:90.38:271,0,90
2 54124901 rs80145461 T C 315.57 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=1.898;DB;DP=16;Dels=0.0;FS=9.031;HRun=1;HaplotypeScore=0.9998;MQ=58.55;MQ0=0;MQRankSum=1.681;QD=19.72;ReadPosRankSum=1.79;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSME4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000404125 GT:AD:DP:GQ:PL 0/1:6,10:16:99:346,0,154
2 54125258 rs805416 T C 180.55 PASS AB=0.611;AC=1;AF=0.50;AN=2;BaseQRankSum=0.362;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=57.64;MQ0=0;MQRankSum=0.725;QD=10.03;ReadPosRankSum=-0.634;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSME4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000404125 GT:AD:DP:GQ:PL 0/1:11,7:18:99:211,0,364
2 54125495 rs805417 T C 445.33 PASS AB=0.483;AC=1;AF=0.50;AN=2;BaseQRankSum=1.815;DB;DP=29;Dels=0.0;FS=6.805;HRun=0;HaplotypeScore=0.0;MQ=58.39;MQ0=0;MQRankSum=-1.126;QD=15.36;ReadPosRankSum=1.034;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSME4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000404125 GT:AD:DP:GQ:PL 0/1:14,15:29:99:475,0,366
2 54127041 rs805423 C T 1145.90 PASS AB=0.523;AC=1;AF=0.50;AN=2;BaseQRankSum=2.377;DB;DP=88;Dels=0.0;FS=1.771;HRun=1;HaplotypeScore=1.5767;MQ=59.74;MQ0=0;MQRankSum=-0.344;QD=13.02;ReadPosRankSum=-0.71;SNPEFF_AMINO_ACID_CHANGE=Q1133;SNPEFF_CODON_CHANGE=caG/caA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_54127018_54127154;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSME4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000404125 GT:AD:DP:GQ:PL 0/1:46,42:88:99:1176,0,1245
2 54135429 rs805319 G C 446.92 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=1.467;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.058;QD=20.31;ReadPosRankSum=0.239;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSME4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000404125 GT:AD:DP:GQ:PL 0/1:8,14:22:99:477,0,227
2 54137136 rs2056650 A G 984.46 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=-6.148;DB;DP=60;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9958;MQ=60.0;MQ0=0;MQRankSum=0.18;QD=16.41;ReadPosRankSum=1.275;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSME4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000404125 GT:AD:DP:GQ:PL 0/1:25,35:60:99:1014,0,859
2 54148331 rs805330 C A 128.11 PASS AB=0.706;AC=1;AF=0.50;AN=2;BaseQRankSum=0.896;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.369;QD=7.54;ReadPosRankSum=1.107;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSME4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000404125 GT:AD:DP:GQ:PL 0/1:12,5:17:99:158,0,433
2 54150079 rs3213774 A T 277.52 PASS AB=0.56;AC=1;AF=0.50;AN=2;BaseQRankSum=1.56;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=0.63;QD=11.1;ReadPosRankSum=-0.246;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSME4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000404125 GT:AD:DP:GQ:PL 0/1:14,11:25:99:308,0,505
2 54152927 rs2302879 T C 454.57 PASS AB=0.44;AC=1;AF=0.50;AN=2;BaseQRankSum=1.889;DB;DP=25;Dels=0.0;FS=6.761;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.082;QD=18.18;ReadPosRankSum=1.451;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSME4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000404125 GT:AD:DP:GQ:PL 0/1:11,14:25:99:485,0,373
2 54155240 rs805349 A G 818.47 PASS AB=0.302;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.636;DB;DP=43;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.198;QD=19.03;ReadPosRankSum=-1.626;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSME4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475694 GT:AD:DP:GQ:PL 0/1:13,30:43:99:848,0,384
2 54158957 rs805352 C T 354.41 PASS AB=0.659;AC=1;AF=0.50;AN=2;BaseQRankSum=0.646;DB;DP=41;Dels=0.0;FS=5.818;HRun=0;HaplotypeScore=0.0;MQ=59.44;MQ0=0;MQRankSum=0.0;QD=8.64;ReadPosRankSum=0.246;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSME4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475694 GT:AD:DP:GQ:PL 0/1:27,14:41:99:384,0,799
2 54161885 rs805357 G T 175.71 PASS AB=0.68;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.204;DB;DP=25;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=-0.728;QD=7.03;ReadPosRankSum=-2.185;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSME4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481518 GT:AD:DP:GQ:PL 0/1:17,8:25:99:206,0,598
2 54164848 rs805360 G T 88.19 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.835;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.289;QD=7.35;ReadPosRankSum=-0.825;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSME4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000404125 GT:AD:DP:GQ:PL 0/1:8,4:12:99:118,0,260
2 54175763 rs2302880 T C 180.30 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.91;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=-0.521;QD=11.27;ReadPosRankSum=-2.141;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSME4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000404125 GT:AD:DP:GQ:PL 0/1:8,7:16:99:210,0,290
2 54362437 rs2357954 T C 168.28 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.387;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.143;QD=15.3;ReadPosRankSum=0.143;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACYP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303536 GT:AD:DP:GQ:PL 0/1:5,6:11:99:198,0,175
2 54482964 rs843704 C T 736.71 PASS AB=0.415;AC=1;AF=0.50;AN=2;BaseQRankSum=1.919;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9983;MQ=58.87;MQ0=0;MQRankSum=0.41;QD=17.97;ReadPosRankSum=0.172;SNPEFF_AMINO_ACID_CHANGE=G109S;SNPEFF_CODON_CHANGE=Ggc/Agc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_54480315_54483409;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TSPYL6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000317802 GT:AD:DP:GQ:PL 0/1:17,24:41:99:767,0,475
2 54483443 rs843703 T C 108.12 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=0.937;DB;DP=7;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.55;QD=15.45;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACYP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303536 GT:AD:DP:GQ:PL 0/1:3,4:7:98.21:138,0,98
2 54562343 rs13000039 G A 41.31 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=13.77;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf73;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398634 GT:AD:DP:GQ:PL 0/1:1,2:3:33.20:71,0,33
2 54571147 rs3813463 C T 73.17 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.38;QD=12.2;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf73;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398634 GT:AD:DP:GQ:PL 0/1:2,4:6:70.60:103,0,71
2 54587596 rs2280718 C T 555.56 PASS AB=0.472;AC=1;AF=0.50;AN=2;BaseQRankSum=1.584;DB;DP=36;Dels=0.0;FS=1.331;HRun=1;HaplotypeScore=0.9734;MQ=59.36;MQ0=0;MQRankSum=1.458;QD=15.43;ReadPosRankSum=0.127;SNPEFF_AMINO_ACID_CHANGE=P196L;SNPEFF_CODON_CHANGE=cCt/cTt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_54587340_54587644;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf73;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000447328 GT:AD:DP:GQ:PL 0/1:17,19:36:99:586,0,534
2 54587659 rs13184 G C 348.14 PASS AB=0.559;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.491;DB;DP=34;Dels=0.0;FS=3.269;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=-0.624;QD=10.24;ReadPosRankSum=-0.382;SNPEFF_AMINO_ACID_CHANGE=R275T;SNPEFF_CODON_CHANGE=aGg/aCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_54587340_54588714;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf73;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000398634 GT:AD:DP:GQ:PL 0/1:19,15:34:99:378,0,625
2 54608883 rs11677654 C A 193.28 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.041;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.551;QD=12.89;ReadPosRankSum=2.021;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf73;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000405749 GT:AD:DP:GQ:PL 0/1:5,10:15:99:223,0,130
2 55040426 rs2631840 A G 3175.32 PASS AC=2;AF=1.00;AN=2;DB;DP=98;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9998;MQ=59.72;MQ0=0;QD=32.4;SNPEFF_AMINO_ACID_CHANGE=P85;SNPEFF_CODON_CHANGE=ccA/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_55040369_55040528;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=EML6;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000356458 GT:AD:DP:GQ:PL 1/1:0,98:98:99:3208,250,0
2 55043798 rs2578711 G C 38.62 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=7.72;ReadPosRankSum=-1.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=EML6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356458 GT:AD:DP:GQ:PL 0/1:2,3:5:68.61:69,0,73
2 55071493 rs11680118 C T 121.36 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.731;QD=24.27;ReadPosRankSum=0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=EML6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356458 GT:AD:DP:GQ:PL 0/1:1,4:5:24.96:151,0,25
2 55077061 rs12713278 A G 256.50 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.814;DB;DP=30;Dels=0.0;FS=1.938;HRun=1;HaplotypeScore=1.399;MQ=60.0;MQ0=0;MQRankSum=-0.638;QD=8.55;ReadPosRankSum=1.518;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=EML6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356458 GT:AD:DP:GQ:PL 0/1:20,10:30:99:286,0,691
2 55077573 rs13020090 C G 54.76 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.25;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=EML6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356458 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:86,6,0
2 55077579 rs12713279 G A 90.36 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.59;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=EML6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356458 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:122,9,0
2 55093657 rs2033821 G A 89.53 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.84;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=EML6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356458 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:122,9,0
2 55093842 rs1961245 G A 357.94 PASS AB=0.657;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.068;DB;DP=35;Dels=0.0;FS=3.22;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.747;QD=10.23;ReadPosRankSum=-1.06;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=EML6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356458 GT:AD:DP:GQ:PL 0/1:23,12:35:99:388,0,699
2 55121930 rs998230 C G 440.87 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.74;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=EML6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356458 GT:AD:DP:GQ:PL 1/1:0,12:12:36.11:474,36,0
2 55121996 rs2165007 G C 454.60 PASS AB=0.238;AC=1;AF=0.50;AN=2;BaseQRankSum=1.61;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.041;QD=21.65;ReadPosRankSum=0.124;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=EML6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356458 GT:AD:DP:GQ:PL 0/1:5,16:21:99:485,0,146
2 55155672 rs10164886 A G 293.93 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.005;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.253;QD=13.36;ReadPosRankSum=1.05;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=EML6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356458 GT:AD:DP:GQ:PL 0/1:8,14:22:99:324,0,241
2 55176112 rs13394146 C T 183.97 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=0.597;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.87;MQ0=0;MQRankSum=-0.278;QD=16.72;ReadPosRankSum=-0.278;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=EML6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356458 GT:AD:DP:GQ:PL 0/1:4,7:11:99:214,0,117
2 55180965 rs4671998 G A 165.56 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.21;MQ0=0;QD=33.11;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=EML6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356458 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:198,15,0
2 55181351 rs4671999 T C 167.71 PASS AB=0.357;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.67;DB;DP=15;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=57.05;MQ0=0;MQRankSum=0.271;QD=10.48;ReadPosRankSum=-0.978;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=EML6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356458 GT:AD:DP:GQ:PL 0/1:5,9:15:99:198,0,153
2 55181382 rs4672001 G A 139.47 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=1.749;DB;DP=11;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.8321;MQ=53.36;MQ0=0;MQRankSum=0.717;QD=12.68;ReadPosRankSum=-0.466;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=EML6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356458 GT:AD:DP:GQ:PL 0/1:6,5:11:99:169,0,124
2 55186229 rs12623902 T C 123.46 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.45;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.47;QD=12.35;ReadPosRankSum=0.103;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=EML6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356458 GT:AD:DP:GQ:PL 0/1:5,5:10:99:153,0,154
2 55186394 rs17346629 A C 765.22 PASS AB=0.408;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.834;DB;DP=49;Dels=0.0;FS=2.41;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=-1.78;QD=15.62;ReadPosRankSum=0.295;SNPEFF_AMINO_ACID_CHANGE=R1617;SNPEFF_CODON_CHANGE=Agg/Cgg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_55186241_55186398;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=EML6;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000356458 GT:AD:DP:GQ:PL 0/1:20,29:49:99:795,0,645
2 55187295 rs35279349 G A 36.25 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.38;QD=6.04;ReadPosRankSum=-0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=EML6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356458 GT:AD:DP:GQ:PL 0/1:4,2:6:66.24:66,0,98
2 55187297 rs67694848 A AG 245.48 PASS AC=2;AF=1.00;AN=2;DB;DP=7;FS=0.0;HRun=4;HaplotypeScore=20.3183;IndelType=I;MQ=61.53;MQ0=0;QD=35.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=EML6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356458 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:287,21,0
2 55189895 rs74963522 G A 74.99 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=0.55;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.754;QD=10.71;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=EML6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356458 GT:AD:DP:GQ:PL 0/1:3,4:7:99:105,0,102
2 55189931 rs3796007 G A 32.86 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9997;MQ=60.0;MQ0=0;MQRankSum=1.231;QD=6.57;ReadPosRankSum=-0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=EML6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356458 GT:AD:DP:GQ:PL 0/1:3,2:5:62.85:63,0,93
2 55195029 rs13027633 G A 51.22 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.61;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RTN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317610 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
2 55195220 rs13033042 G A 845.46 PASS AB=0.449;AC=1;AF=0.50;AN=2;BaseQRankSum=2.141;DB;DP=49;Dels=0.0;FS=1.328;HRun=0;HaplotypeScore=3.4487;MQ=60.0;MQ0=0;MQRankSum=0.104;QD=17.25;ReadPosRankSum=-0.582;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RTN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317610 GT:AD:DP:GQ:PL 0/1:22,27:49:99:875,0,551
2 55195330 rs11684017 A G 886.34 PASS AB=0.396;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.895;DB;DP=53;Dels=0.0;FS=10.329;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.522;QD=16.72;ReadPosRankSum=0.317;SNPEFF_AMINO_ACID_CHANGE=A1888;SNPEFF_CODON_CHANGE=gcA/gcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_55195264_55195417;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=EML6;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000356458 GT:AD:DP:GQ:PL 0/1:21,32:53:99:916,0,637
2 55200800 rs2255112 T G 531.47 PASS AB=0.485;AC=1;AF=0.50;AN=2;BaseQRankSum=1.243;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.387;QD=16.11;ReadPosRankSum=0.702;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=EML6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356458 GT:AD:DP:GQ:PL 0/1:16,17:33:99:561,0,509
2 55201038 rs2255026 C T 954.28 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.34;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=EML6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356458 GT:AD:DP:GQ:PL 1/1:0,27:27:72.24:987,72,0
2 55214618 rs2580769 A C 1339.75 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.39;MQ0=0;QD=35.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RTN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317610 GT:AD:DP:GQ:PL 1/1:0,38:38:99:1373,102,0
2 55214912 rs2580770 C G 85.39 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=51.77;MQ0=0;QD=28.46;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RTN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317610 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:117,9,0
2 55254165 rs11677099 T A 1032.69 PASS AB=0.433;AC=1;AF=0.50;AN=2;BaseQRankSum=0.41;DB;DP=60;Dels=0.0;FS=7.597;HRun=1;HaplotypeScore=0.5784;MQ=59.62;MQ0=0;MQRankSum=1.708;QD=17.21;ReadPosRankSum=0.515;SNPEFF_AMINO_ACID_CHANGE=D125V;SNPEFF_CODON_CHANGE=gAt/gTt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_55252222_55254363;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RTN4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000354474 GT:AD:DP:GQ:PL 0/1:26,34:60:99:1063,0,841
2 55404794 rs14026 G A 1024.43 PASS AB=0.485;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.932;DB;DP=66;Dels=0.0;FS=0.91;HRun=0;HaplotypeScore=0.0;MQ=59.65;MQ0=0;MQRankSum=-0.648;QD=15.52;ReadPosRankSum=0.892;SNPEFF_AMINO_ACID_CHANGE=A381V;SNPEFF_CODON_CHANGE=gCa/gTa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_55404738_55404917;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=C2orf63;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000406076 GT:AD:DP:GQ:PL 0/1:32,34:66:99:1054,0,1000
2 55404883 rs13032294 T C 826.57 PASS AB=0.473;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.357;DB;DP=55;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=1.762;QD=15.03;ReadPosRankSum=-2.267;SNPEFF_AMINO_ACID_CHANGE=Q24;SNPEFF_CODON_CHANGE=caA/caG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_55404738_55404917;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=C2orf63;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000406437 GT:AD:DP:GQ:PL 0/1:26,29:55:99:857,0,858
2 55407610 rs13003020 T A 257.07 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=2.317;DB;DP=30;Dels=0.0;FS=2.277;HRun=2;HaplotypeScore=0.0;MQ=59.23;MQ0=0;MQRankSum=-0.206;QD=8.57;ReadPosRankSum=0.344;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=C2orf63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401408 GT:AD:DP:GQ:PL 0/1:20,10:30:99:287,0,695
2 55407644 rs114931154 A T 755.27 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=2.562;DB;DP=41;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.629;QD=18.42;ReadPosRankSum=0.454;SNPEFF_EFFECT=SPLICE_SITE_DONOR;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=C2orf63;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000487320 GT:AD:DP:GQ:PL 0/1:15,25:41:99:785,0,386
2 55407754 rs6716066 C T 2115.27 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.6;MQ0=0;QD=36.47;SNPEFF_AMINO_ACID_CHANGE=V304I;SNPEFF_CODON_CHANGE=Gtc/Atc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_55407646_55407848;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=C2orf63;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000406076 GT:AD:DP:GQ:PL 1/1:0,58:58:99:2148,160,0
2 55407935 rs10183953 G A 359.18 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.87;MQ0=0;QD=32.65;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=C2orf63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401408 GT:AD:DP:GQ:PL 1/1:0,11:11:30.10:392,30,0
2 55439667 rs6723870 C G 208 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.67;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=C2orf63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401408 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:241,18,0
2 55439963 rs2118283 C A 1035.31 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.7;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=C2orf63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401408 GT:AD:DP:GQ:PL 1/1:0,29:29:78.26:1068,78,0
2 55449256 rs1437389 G A 283.49 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.5;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=C2orf63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000403506 GT:AD:DP:GQ:PL 1/1:0,9:9:24.07:316,24,0
2 55449318 rs4435493 T C 362.84 PASS AB=0.435;AC=1;AF=0.50;AN=2;BaseQRankSum=0.031;DB;DP=23;Dels=0.0;FS=3.067;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.837;QD=15.78;ReadPosRankSum=1.457;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=C2orf63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000403506 GT:AD:DP:GQ:PL 0/1:10,13:23:99:393,0,311
2 55449464 rs17852670 T C 1001.33 PASS AB=0.452;AC=1;AF=0.50;AN=2;BaseQRankSum=0.601;DB;DP=62;Dels=0.0;FS=11.418;HRun=0;HaplotypeScore=0.0;MQ=59.63;MQ0=0;MQRankSum=0.191;QD=16.15;ReadPosRankSum=0.078;SNPEFF_AMINO_ACID_CHANGE=Q28;SNPEFF_CODON_CHANGE=caA/caG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_55449371_55449629;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=C2orf63;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000401408 GT:AD:DP:GQ:PL 0/1:28,34:62:99:1031,0,853
2 55459890 rs35302335 G T 175.11 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.779;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.467;QD=14.59;ReadPosRankSum=-0.869;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTIF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263629 GT:AD:DP:GQ:PL 0/1:6,6:12:99:205,0,196
2 55460017 rs2028139 C T 198.86 PASS AB=0.3;AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DB;DP=10;Dels=0.0;FS=2.73;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.58;QD=19.89;ReadPosRankSum=0.296;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTIF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263629 GT:AD:DP:GQ:PL 0/1:3,7:10:58.49:229,0,58
2 55460605 rs6737227 A T 224.51 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=2.742;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.048;QD=13.21;ReadPosRankSum=-0.241;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTIF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263629 GT:AD:DP:GQ:PL 0/1:8,9:17:99:255,0,231
2 55461823 rs2576722 T A 217.52 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.25;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTIF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263629 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:250,18,0
2 55464700 rs74410951 T G 49.99 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTIF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418823 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
2 55470115 rs11357 C T 591.62 PASS AB=0.521;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.032;DB;DP=48;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.72;MQ0=0;MQRankSum=0.454;QD=12.33;ReadPosRankSum=-0.351;SNPEFF_AMINO_ACID_CHANGE=V234I;SNPEFF_CODON_CHANGE=Gta/Ata;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_55470076_55470216;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTIF2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000418823 GT:AD:DP:GQ:PL 0/1:25,23:48:99:622,0,857
2 55471407 rs2589083 T C 180.29 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.05;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTIF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263629 GT:AD:DP:GQ:PL 1/1:0,6:6:18.05:213,18,0
2 55473371 rs2576724 A G 195.05 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.802;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9867;MQ=56.62;MQ0=0;MQRankSum=-2.239;QD=9.29;ReadPosRankSum=-0.888;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTIF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263629 GT:AD:DP:GQ:PL 0/1:12,9:21:99:225,0,394
2 55473386 rs3833559 CAT C 323.43 PASS AB=0.743;AC=1;AF=0.50;AN=2;BaseQRankSum=3.611;DB;DP=26;FS=0.0;HRun=0;HaplotypeScore=104.7625;IndelType=D;MQ=57.29;MQ0=0;MQRankSum=-1.294;QD=12.44;ReadPosRankSum=-0.054;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTIF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263629 GT:AD:DP:GQ:PL 0/1:17,9:26:99:362,0,959
2 55473681 rs2589081 A C 564.04 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.18;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTIF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263629 GT:AD:DP:GQ:PL 1/1:0,17:17:45.14:597,45,0
2 55489629 rs2589093 T C 224.41 PASS AB=0.588;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.723;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=53.57;MQ0=0;MQRankSum=0.088;QD=6.6;ReadPosRankSum=-1.317;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTIF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366137 GT:AD:DP:GQ:PL 0/1:20,14:34:99:254,0,512
2 55490788 rs1134722 T C 422.37 PASS AB=0.528;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.742;DB;DP=36;Dels=0.0;FS=3.424;HRun=1;HaplotypeScore=0.0;MQ=59.36;MQ0=0;MQRankSum=1.156;QD=11.73;ReadPosRankSum=0.155;SNPEFF_AMINO_ACID_CHANGE=L69;SNPEFF_CODON_CHANGE=ctA/ctG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_55490776_55491001;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTIF2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000263629 GT:AD:DP:GQ:PL 0/1:19,17:36:99:452,0,627
2 55490819 rs1056445 G T 835.65 PASS AB=0.49;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.142;DB;DP=51;Dels=0.0;FS=10.861;HRun=1;HaplotypeScore=0.8321;MQ=59.55;MQ0=0;MQRankSum=0.341;QD=16.39;ReadPosRankSum=-0.238;SNPEFF_AMINO_ACID_CHANGE=T59N;SNPEFF_CODON_CHANGE=aCt/aAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_55490776_55491001;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTIF2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000263629 GT:AD:DP:GQ:PL 0/1:25,26:51:99:866,0,741
2 55518742 rs2249856 T C 154.06 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.81;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC88A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426576 GT:AD:DP:GQ:PL 1/1:0,5:5:15.03:187,15,0
2 55519148 rs59122515 C A 79.96 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=5.799;MQ=47.12;MQ0=0;QD=19.99;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC88A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426576 GT:AD:DP:GQ:PL 1/1:0,4:4:12.01:112,12,0
2 55522422 rs2589110 A G 3477.55 PASS AC=2;AF=1.00;AN=2;DB;DP=93;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.5;MQ0=0;QD=37.39;SNPEFF_AMINO_ACID_CHANGE=V1129;SNPEFF_CODON_CHANGE=gtT/gtC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_55521309_55523192;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC88A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000426576 GT:AD:DP:GQ:PL 1/1:0,93:93:99:3478,256,0
2 55523308 rs140112269 C CAA 444.37 PASS AC=2;AF=1.00;AN=2;DB;DP=18;FS=0.0;HRun=1;HaplotypeScore=160.3117;IndelType=I;MQ=57.19;MQ0=0;QD=24.69;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC88A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263630 GT:AD:DP:GQ:PL 1/1:3,13:18:45.69:486,46,0
2 55526751 rs2589116 A G 258.82 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.97;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC88A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263630 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:292,21,0
2 55527108 rs1545121 G A 1976.65 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC88A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263630 GT:AD:DP:GQ:PL 1/1:0,53:53:99:2010,150,0
2 55528257 rs2576699 A C 500.77 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.52;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC88A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263630 GT:AD:DP:GQ:PL 1/1:0,13:13:39.13:534,39,0
2 55528514 rs2589117 A G 218.05 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.34;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC88A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263630 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:251,18,0
2 55528855 rs2920973 A T 167.70 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.96;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC88A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263630 GT:AD:DP:GQ:PL 1/1:0,7:7:18.05:201,18,0
2 55566485 rs72447857 TAAC T 263.04 PASS AC=2;AF=1.00;AN=2;DB;DP=6;FS=0.0;HRun=0;HaplotypeScore=72.1786;IndelType=D;MQ=41.96;MQ0=0;QD=43.84;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC88A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263630 GT:AD:DP:GQ:PL 1/1:1,5:6:18.06:305,18,0
2 55566531 rs12621734 A C 372.96 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=7.9683;MQ=48.43;MQ0=0;QD=33.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC88A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263630 GT:AD:DP:GQ:PL 1/1:0,11:11:33.10:406,33,0
2 55566538 rs71821845 CTATT C 597.89 PASS AC=2;AF=1.00;AN=2;DB;DP=13;FS=0.0;HRun=0;HaplotypeScore=141.8363;IndelType=D;MQ=49.26;MQ0=0;QD=45.99;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC88A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263630 GT:AD:DP:GQ:PL 1/1:2,11:13:36.12:640,36,0
2 55571085 rs2589077 C T 174.14 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.02;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC88A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263630 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:207,15,0
2 55576634 rs2589090 C T 1035.43 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.2;MQ0=0;QD=35.7;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC88A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263630 GT:AD:DP:GQ:PL 1/1:0,29:29:78.26:1068,78,0
2 55582601 rs5831355 T TTTGACACA 1911.06 PASS AC=2;AF=1.00;AN=2;DB;DP=15;FS=0.0;HRun=0;HaplotypeScore=93.3821;IndelType=I;MQ=33.34;MQ0=0;QD=127.4;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC88A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000430086 GT:AD:DP:GQ:PL 1/1:4,9:15:45.15:1953,45,0
2 55582684 rs1437394 A T 1694.21 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.669;DB;DP=56;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=56.39;MQ0=0;MQRankSum=-0.346;QD=30.25;ReadPosRankSum=-0.157;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC88A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000430086 GT:AD:DP:GQ:PL 1/1:1,55:56:99:1727,104,0
2 55589364 rs13019339 G A 512.36 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.16;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC88A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263630 GT:AD:DP:GQ:PL 1/1:0,15:15:42.11:545,42,0
2 55589434 rs3111412 T A 1094.74 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.52;MQ0=0;QD=28.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC88A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263630 GT:AD:DP:GQ:PL 1/1:0,39:39:93.28:1128,93,0
2 55599810 rs10496042 C T 174.89 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.98;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC88A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263630 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:208,15,0
2 55747471 rs76100373 A G 420.92 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.345;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.6643;MQ=60.0;MQ0=0;MQRankSum=-0.299;QD=15.03;ReadPosRankSum=0.712;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC104;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000339012 GT:AD:DP:GQ:PL 0/1:14,14:28:99:451,0,451
2 55750721 rs41281507 A G 71.29 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.731;QD=14.26;ReadPosRankSum=0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC104;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000339012 GT:AD:DP:GQ:PL 0/1:1,4:5:30.61:101,0,31
2 55760940 rs4671248 G T 539.03 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.33;MQ0=0;QD=38.5;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC104;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000339012 GT:AD:DP:GQ:PL 1/1:0,14:14:42.14:572,42,0
2 55762942 . C A 55.06 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.041;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.45;MQ0=0;MQRankSum=1.164;QD=3.67;ReadPosRankSum=-0.184;SNPEFF_AMINO_ACID_CHANGE=L194I;SNPEFF_CODON_CHANGE=Ctc/Atc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_55762848_55763047;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC104;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000403007 GT:AD:DP:GQ:PL 0/1:10,5:15:85.05:85,0,356
2 55762957 rs3762513 C T 77.71 PASS AB=0.733;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.632;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.979;QD=5.18;ReadPosRankSum=-1.11;SNPEFF_AMINO_ACID_CHANGE=H199Y;SNPEFF_CODON_CHANGE=Cac/Tac;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_55762848_55763047;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC104;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000403007 GT:AD:DP:GQ:PL 0/1:11,4:15:99:108,0,408
2 55764754 rs145376528 AATATGAATAC A 977.84 PASS AB=0.675;AC=1;AF=0.50;AN=2;BaseQRankSum=4.308;DB;DP=27;FS=0.0;HRun=0;HaplotypeScore=244.3392;IndelType=D;MQ=50.46;MQ0=0;MQRankSum=-2.872;QD=36.22;ReadPosRankSum=-0.769;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC104;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000403007 GT:AD:DP:GQ:PL 0/1:14,13:27:99:1017,0,1763
2 55771050 rs3816489 C G 1432.42 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.073;DB;DP=112;Dels=0.0;FS=5.07;HRun=1;HaplotypeScore=1.612;MQ=59.79;MQ0=0;MQRankSum=0.232;QD=12.79;ReadPosRankSum=0.156;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC104;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000406691 GT:AD:DP:GQ:PL 0/1:64,48:112:99:1462,0,2017
2 55771161 rs1045910 A G 2865.88 PASS AC=2;AF=1.00;AN=2;DB;DP=81;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.7005;MQ=59.43;MQ0=0;QD=35.38;SNPEFF_AMINO_ACID_CHANGE=D214G;SNPEFF_CODON_CHANGE=gAc/gGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_55771161_55771210;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC104;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000407816 GT:AD:DP:GQ:PL 1/1:0,80:81:99:2899,217,0
2 55785692 rs4671249 T C 34.22 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.11;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMEK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272313 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:65,6,0
2 55795557 rs56286204 C T 594.25 PASS AB=0.537;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.399;DB;DP=41;Dels=0.0;FS=1.724;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=0.065;QD=14.49;ReadPosRankSum=0.458;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMEK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272313 GT:AD:DP:GQ:PL 0/1:22,19:41:99:624,0,686
2 55800992 rs4671250 G T 126.79 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=55.21;MQ0=0;QD=25.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMEK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272313 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:159,12,0
2 55805440 rs2903704 T C 299.30 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.94;SNPEFF_AMINO_ACID_CHANGE=I503V;SNPEFF_CODON_CHANGE=Ata/Gta;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_55805383_55805478;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMEK2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000345102 GT:AD:DP:GQ:PL 1/1:0,12:12:27.08:332,27,0
2 55808578 rs75273644 G C 163.25 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.663;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.33;MQ0=0;MQRankSum=0.068;QD=11.66;ReadPosRankSum=-1.027;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMEK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272313 GT:AD:DP:GQ:PL 0/1:7,7:14:99:193,0,245
2 55808969 rs1975486 C T 45.13 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.57;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMEK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272313 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:76,6,0
2 55812061 rs4312532 A G 298.24 PASS AB=0.353;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.764;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.055;QD=17.54;ReadPosRankSum=0.05;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMEK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272313 GT:AD:DP:GQ:PL 0/1:6,11:17:99:328,0,189
2 55812073 rs7594279 T G 160.57 PASS AB=0.632;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.592;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.887;QD=8.45;ReadPosRankSum=1.225;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMEK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272313 GT:AD:DP:GQ:PL 0/1:12,7:19:99:191,0,449
2 55831415 rs2627763 T C 46.56 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.28;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMEK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272313 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:78,6,0
2 55844105 rs782593 C T 164.68 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.94;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMEK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272313 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:197,15,0
2 55844209 . C G 364.79 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.924;DP=36;Dels=0.0;FS=2.21;HRun=0;HaplotypeScore=1.8313;MQ=60.0;MQ0=0;MQRankSum=-0.348;QD=10.13;ReadPosRankSum=-1.275;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMEK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272313 GT:AD:DP:GQ:PL 0/1:16,20:36:99:395,0,553
2 55844445 rs782594 T C 421.59 PASS AB=0.211;AC=1;AF=0.50;AN=2;BaseQRankSum=1.221;DB;DP=19;Dels=0.0;FS=2.805;HRun=1;HaplotypeScore=0.0;MQ=59.01;MQ0=0;MQRankSum=1.54;QD=22.19;ReadPosRankSum=1.009;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMEK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477749 GT:AD:DP:GQ:PL 0/1:4,15:19:91.89:452,0,92
2 55863360 rs35916020 T TA 123.87 PASS AB=0.759;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.464;DB;DP=22;FS=2.197;HRun=11;HaplotypeScore=49.44;IndelType=I;MQ=59.44;MQ0=0;MQRankSum=-2.098;QD=5.63;ReadPosRankSum=-0.439;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PNPT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481066 GT:AD:DP:GQ:PL 0/1:14,7:22:99:163,0,165
2 55867938 rs34679603 A G 156.73 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=3.016;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9987;MQ=60.0;MQ0=0;MQRankSum=0.377;QD=12.06;ReadPosRankSum=-0.377;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PNPT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000447944 GT:AD:DP:GQ:PL 0/1:7,6:13:99:187,0,232
2 55873215 rs2627777 G A 52.22 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=51.77;MQ0=0;QD=17.41;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PNPT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000447944 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:83,6,0
2 55883317 rs2627765 G T 457.45 PASS AB=0.609;AC=1;AF=0.50;AN=2;BaseQRankSum=2.69;DB;DP=46;Dels=0.0;FS=2.588;HRun=0;HaplotypeScore=1.6988;MQ=60.0;MQ0=0;MQRankSum=1.407;QD=9.94;ReadPosRankSum=0.686;SNPEFF_AMINO_ACID_CHANGE=R464;SNPEFF_CODON_CHANGE=Cga/Aga;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_55883266_55883355;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PNPT1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000447944 GT:AD:DP:GQ:PL 0/1:28,18:46:99:487,0,814
2 55889062 rs782604 G A 1014.09 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.56;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PNPT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000447944 GT:AD:DP:GQ:PL 1/1:0,27:27:75.25:1047,75,0
2 55894247 rs782637 T C 498.91 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.677;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7046;MQ=60.0;MQ0=0;MQRankSum=0.886;QD=15.59;ReadPosRankSum=0.622;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PNPT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000447944 GT:AD:DP:GQ:PL 0/1:16,16:32:99:529,0,518
2 55899228 rs782631 A T 2135.91 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.69;MQ0=0;QD=35.01;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PNPT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000447944 GT:AD:DP:GQ:PL 1/1:0,61:61:99:2169,168,0
2 55900231 . G GA 435.42 PASS AB=0.732;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.981;DP=52;FS=1.648;HRun=10;HaplotypeScore=190.7124;IndelType=I;MQ=58.74;MQ0=0;MQRankSum=-0.735;QD=8.37;ReadPosRankSum=-0.237;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PNPT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000447944 GT:AD:DP:GQ:PL 0/1:33,19:52:99:474,0,465
2 55900283 rs782629 A G 245.45 PASS AB=0.619;AC=1;AF=0.50;AN=2;BaseQRankSum=3.665;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.58;MQ0=0;MQRankSum=0.039;QD=11.69;ReadPosRankSum=0.656;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PNPT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000447944 GT:AD:DP:GQ:PL 0/1:13,8:21:99:275,0,349
2 55912120 rs782572 T C 572.65 PASS AB=0.543;AC=1;AF=0.50;AN=2;BaseQRankSum=0.521;DB;DP=46;Dels=0.0;FS=2.816;HRun=1;HaplotypeScore=0.0;MQ=59.5;MQ0=0;MQRankSum=-0.498;QD=12.45;ReadPosRankSum=-0.971;SNPEFF_AMINO_ACID_CHANGE=I121V;SNPEFF_CODON_CHANGE=Att/Gtt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_55912078_55912183;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PNPT1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000447944 GT:AD:DP:GQ:PL 0/1:25,21:46:99:603,0,760
2 55914621 rs809732 T C 249.95 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.927;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.55;MQ0=0;MQRankSum=1.096;QD=15.62;ReadPosRankSum=-0.15;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PNPT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000447944 GT:AD:DP:GQ:PL 0/1:8,8:16:99:280,0,220
2 55921116 rs782584 C G 53.22 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.61;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PNPT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260604 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
2 56102019 rs55778215 T C 351.58 PASS AB=0.478;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.092;DB;DP=23;Dels=0.0;FS=1.935;HRun=2;HaplotypeScore=0.0;MQ=59.47;MQ0=0;MQRankSum=0.462;QD=15.29;ReadPosRankSum=2.185;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EFEMP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355426 GT:AD:DP:GQ:PL 0/1:11,12:23:99:382,0,308
2 56102061 rs139806658 GA G 301.47 PASS AB=0.679;AC=1;AF=0.50;AN=2;BaseQRankSum=4.133;DB;DP=36;FS=5.871;HRun=10;HaplotypeScore=132.6765;IndelType=D;MQ=60.26;MQ0=0;MQRankSum=0.827;QD=8.37;ReadPosRankSum=-0.723;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EFEMP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355426 GT:AD:DP:GQ:PL 0/1:19,17:36:99:341,0,462
2 56102281 rs55867135 T C 140.11 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.589;QD=17.51;ReadPosRankSum=1.067;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EFEMP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355426 GT:AD:DP:GQ:PL 0/1:2,6:8:54.59:170,0,55
2 56103682 rs17047287 T C 640 PASS AB=0.441;AC=1;AF=0.50;AN=2;BaseQRankSum=2.879;DB;DP=34;Dels=0.0;FS=3.554;HRun=0;HaplotypeScore=0.0;MQ=59.32;MQ0=0;MQRankSum=-0.451;QD=18.82;ReadPosRankSum=1.7;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EFEMP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355426 GT:AD:DP:GQ:PL 0/1:15,19:34:99:670,0,485
2 56108689 rs11680866 G A 401.66 PASS AB=0.36;AC=1;AF=0.50;AN=2;BaseQRankSum=0.991;DB;DP=25;Dels=0.0;FS=5.528;HRun=1;HaplotypeScore=0.9734;MQ=60.0;MQ0=0;MQRankSum=-0.142;QD=16.07;ReadPosRankSum=-0.651;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EFEMP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355426 GT:AD:DP:GQ:PL 0/1:9,16:25:99:432,0,300
2 56108882 rs3748959 T C 516.10 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.132;DB;DP=54;Dels=0.0;FS=2.48;HRun=0;HaplotypeScore=0.0;MQ=59.22;MQ0=0;MQRankSum=1.558;QD=9.56;ReadPosRankSum=-0.74;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EFEMP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355426 GT:AD:DP:GQ:PL 0/1:30,24:54:99:546,0,963
2 56149475 rs2277886 C G 601.78 PASS AB=0.45;AC=1;AF=0.50;AN=2;BaseQRankSum=0.184;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=58.4;MQ0=0;MQRankSum=-0.496;QD=14.68;ReadPosRankSum=0.014;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EFEMP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000424207 GT:AD:DP:GQ:PL 0/1:18,22:40:99:632,0,515
2 56216052 rs10865292 G A 3809.82 PASS AC=2;AF=1.00;AN=2;DB;DP=112;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.3643;MQ=59.59;MQ0=0;QD=34.02;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=MIR216A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000385063 GT:AD:DP:GQ:PL 1/1:0,112:112:99:3810,289,0
2 56411817 rs35587531 C T 279.73 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.97;SNPEFF_AMINO_ACID_CHANGE=P20S;SNPEFF_CODON_CHANGE=Cca/Tca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_56411258_56412035;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC85A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000407595 GT:AD:DP:GQ:PL 1/1:0,10:10:24.08:313,24,0
2 56611543 rs77072758 C CAAG 648.42 PASS AB=0.745;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.108;DB;DP=35;FS=0.0;HRun=0;HaplotypeScore=111.2353;IndelType=I;MQ=58.8;MQ0=0;MQRankSum=-0.055;QD=18.53;ReadPosRankSum=-1.013;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC85A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000407595 GT:AD:DP:GQ:PL 0/1:23,12:35:99:687,0,829
2 56611725 rs11902680 C A 48.72 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.36;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC85A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000407595 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:80,6,0
2 58350504 rs7558007 A G 35.94 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.72;QD=5.99;ReadPosRankSum=-1.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VRK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340157 GT:AD:DP:GQ:PL 0/1:4,2:6:65.93:66,0,148
2 58373754 rs185912980 G A 135.59 PASS AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=22.6;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VRK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340157 GT:AD:DP:GQ:PL 0/1:1,5:6:24.95:166,0,25
2 58388696 rs848291 A G 1372.16 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.87;MQ0=0;QD=33.47;SNPEFF_AMINO_ACID_CHANGE=S210;SNPEFF_CODON_CHANGE=tcT/tcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_58388657_58388773;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FANCL;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000403676 GT:AD:DP:GQ:PL 1/1:0,41:41:99:1405,105,0
2 58389969 rs149412402 G C 674.68 PASS AB=0.554;AC=1;AF=0.50;AN=2;BaseQRankSum=0.763;DB;DP=56;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.224;QD=12.05;ReadPosRankSum=-0.314;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FANCL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000417361 GT:AD:DP:GQ:PL 0/1:31,25:56:99:705,0,914
2 58392789 rs848288 T C 1278.65 HaplotypeScoreFilter13 AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=67.6556;MQ=56.11;MQ0=0;QD=34.56;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FANCL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233741 GT:AD:DP:GQ:PL 1/1:0,37:37:99:1312,99,0
2 58392797 rs148383677 TTTA T 1834.49 PASS AC=2;AF=1.00;AN=2;DB;DP=39;FS=0.0;HRun=0;HaplotypeScore=306.6888;IndelType=D;MQ=55.35;MQ0=0;QD=47.04;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FANCL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233741 GT:AD:DP:GQ:PL 1/1:1,38:39:99:1877,111,0
2 58453843 . G GA 481.43 PASS AC=2;AF=1.00;AN=2;DP=18;FS=0.0;HRun=12;HaplotypeScore=47.5424;IndelType=I;MQ=59.32;MQ0=0;QD=26.75;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FANCL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233741 GT:AD:DP:GQ:PL 1/1:0,18:18:54.08:523,54,0
2 58688578 . C G 997.81 PASS AB=0.602;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.315;DP=88;Dels=0.0;FS=0.877;HRun=0;HaplotypeScore=2.8256;MQ=56.86;MQ0=0;MQRankSum=1.147;QD=11.34;ReadPosRankSum=-0.16;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AC007092.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000422723 GT:AD:DP:GQ:PL 0/1:53,35:88:99:1028,0,1645
2 58688907 rs2075171 G A 2179.44 PASS AB=0.527;AC=1;AF=0.50;AN=2;BaseQRankSum=4.543;DB;DP=150;Dels=0.0;FS=3.971;HRun=0;HaplotypeScore=2.6756;MQ=59.92;MQ0=0;MQRankSum=-1.325;QD=14.53;ReadPosRankSum=1.171;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AC007092.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000422723 GT:AD:DP:GQ:PL 0/1:79,71:150:99:2209,0,2320
2 59482217 rs10690827 T TGACTC 878.30 PASS AC=2;AF=1.00;AN=2;DB;DP=11;FS=0.0;HRun=0;HaplotypeScore=41.1025;IndelType=I;MQ=49.89;MQ0=1;QD=73.19;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AC007131.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409590 GT:AD:DP:GQ:PL 1/1:2,10:11:30.10:920,30,0
2 59504776 rs1558596 A G 949.68 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=41.57;MQ0=0;QD=33.92;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AC007131.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409590 GT:AD:DP:GQ:PL 1/1:0,28:28:84.22:983,84,0
2 60687959 rs7569946 A G 584 PASS AB=0.459;AC=1;AF=0.50;AN=2;BaseQRankSum=0.381;DB;DP=37;Dels=0.0;FS=7.182;HRun=0;HaplotypeScore=1.9467;MQ=56.81;MQ0=0;MQRankSum=1.112;QD=15.78;ReadPosRankSum=0.107;SNPEFF_AMINO_ACID_CHANGE=S365;SNPEFF_CODON_CHANGE=agT/agC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_60687817_60688879;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BCL11A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000537768 GT:AD:DP:GQ:PL 0/1:17,20:37:99:614,0,508
2 60689522 rs61748090 G A 454.63 PASS AB=0.617;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.42;DB;DP=48;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.03;MQ0=0;MQRankSum=-0.619;QD=9.47;ReadPosRankSum=0.686;SNPEFF_AMINO_ACID_CHANGE=C141;SNPEFF_CODON_CHANGE=tgC/tgT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_60687409_60689559;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BCL11A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000358510 GT:AD:DP:GQ:PL 0/1:29,18:48:99:485,0,836
2 60768978 rs2665668 G A 425.93 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.76;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BCL11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409351 GT:AD:DP:GQ:PL 1/1:0,13:13:36.08:459,36,0
2 60997770 rs10187671 T A 139.68 PASS AB=0.3;AC=1;AF=0.50;AN=2;BaseQRankSum=0.546;DB;DP=10;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=57.66;MQ0=0;MQRankSum=0.296;QD=13.97;ReadPosRankSum=0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PAPOLG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000238714 GT:AD:DP:GQ:PL 0/1:3,7:10:57.70:170,0,58
2 61007782 rs10496089 A G 353.60 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=0.626;DB;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.088;QD=16.07;ReadPosRankSum=1.154;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PAPOLG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000238714 GT:AD:DP:GQ:PL 0/1:10,12:22:99:384,0,344
2 61008036 rs3845814 C T 204.94 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.16;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PAPOLG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000238714 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:238,18,0
2 61009909 rs10197672 C T 316.15 PASS AB=0.44;AC=1;AF=0.50;AN=2;BaseQRankSum=2.0;DB;DP=25;Dels=0.0;FS=2.048;HRun=0;HaplotypeScore=0.0;MQ=49.96;MQ0=0;MQRankSum=0.646;QD=12.65;ReadPosRankSum=0.646;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PAPOLG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000238714 GT:AD:DP:GQ:PL 0/1:11,14:25:99:346,0,245
2 61018788 rs11695223 C T 258.13 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.048;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.107;QD=15.18;ReadPosRankSum=-0.144;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PAPOLG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000238714 GT:AD:DP:GQ:PL 0/1:8,9:17:99:288,0,279
2 61021349 rs11125855 A G 509.92 PASS AB=0.318;AC=1;AF=0.50;AN=2;BaseQRankSum=1.974;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9469;MQ=60.0;MQ0=0;MQRankSum=0.634;QD=23.18;ReadPosRankSum=0.141;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PAPOLG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470208 GT:AD:DP:GQ:PL 0/1:7,15:22:99:540,0,221
2 61121492 rs842644 G A 1567.05 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.531;MQ=59.48;MQ0=0;QD=35.61;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=REL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295025 GT:AD:DP:GQ:PL 1/1:0,44:44:99:1600,117,0
2 61175002 . G A 67.03 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.783;DP=17;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=6.717;MQ=46.25;MQ0=0;MQRankSum=-3.413;QD=3.94;ReadPosRankSum=3.308;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PUS10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000316752 GT:AD:DP:GQ:PL 0/1:8,9:17:97.03:97,0,247
2 61175040 . C A 31.04 QDFilter2 AB=0.68;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.463;DP=25;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=2.8069;MQ=51.06;MQ0=0;MQRankSum=-3.09;QD=1.24;ReadPosRankSum=-2.015;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PUS10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000316752 GT:AD:DP:GQ:PL 0/1:17,8:25:61.03:61,0,617
2 61175312 rs12479056 T C 1800.43 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.22;MQ0=0;QD=30.52;SNPEFF_AMINO_ACID_CHANGE=K439;SNPEFF_CODON_CHANGE=aaA/aaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_61175178_61175320;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PUS10;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000316752 GT:AD:DP:GQ:PL 1/1:0,59:59:99:1833,144,0
2 61187478 . C CA 111.90 PASS AB=0.776;AC=1;AF=0.50;AN=2;BaseQRankSum=1.927;DP=38;FS=0.0;HRun=17;HaplotypeScore=332.7581;IndelType=I;MQ=51.83;MQ0=0;MQRankSum=-2.623;QD=2.94;ReadPosRankSum=-1.184;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PUS10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000316752 GT:AD:DP:GQ:PL 0/1:20,8:38:98.92:151,0,99
2 61235855 rs1182688 C A 819.59 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.15;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PUS10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398658 GT:AD:DP:GQ:PL 1/1:0,24:24:63.21:853,63,0
2 61304002 rs1729657 A G 710.80 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.286;DB;DP=22;Dels=0.0;FS=5.855;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.057;QD=32.31;ReadPosRankSum=2.113;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KIAA1841;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000483700 GT:AD:DP:GQ:PL 1/1:2,20:22:15.43:744,15,0
2 61304271 rs1729659 A G 1937.15 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9734;MQ=59.6;MQ0=0;QD=33.4;SNPEFF_AMINO_ACID_CHANGE=K216;SNPEFF_CODON_CHANGE=aaA/aaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_61304055_61304293;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KIAA1841;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000295031 GT:AD:DP:GQ:PL 1/1:0,58:58:99:1970,156,0
2 61308517 rs1177295 A G 2563.01 PASS AC=2;AF=1.00;AN=2;DB;DP=71;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=59.02;MQ0=0;QD=36.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KIAA1841;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295031 GT:AD:DP:GQ:PL 1/1:0,71:71:99:2596,208,0
2 61336523 rs72809469 T C 1344.90 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=58.11;MQ0=0;QD=36.35;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KIAA1841;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295031 GT:AD:DP:GQ:PL 1/1:0,37:37:99:1378,108,0
2 61344858 rs72809474 A G 52.75 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KIAA1841;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295031 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
2 61349446 rs1177284 G A 166.93 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.39;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KIAA1841;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356719 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:200,15,0
2 61389965 . G T 332.72 MQFilter40 AB=0.16;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.784;DP=25;Dels=0.0;FS=6.99;HRun=3;HaplotypeScore=11.6779;MQ=37.32;MQ0=0;MQRankSum=-2.602;QD=13.31;ReadPosRankSum=2.51;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf74;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426997 GT:AD:DP:GQ:PL 0/1:4,21:25:69.92:363,0,70
2 61391305 rs1729662 G A 52.75 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=13.19;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KIAA1841;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398622 GT:AD:DP:GQ:PL 1/1:0,4:4:6.02:84,6,0
2 61406438 rs17006750 A G 111.61 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=1.754;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.55;QD=15.94;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AHSA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357022 GT:AD:DP:GQ:PL 0/1:3,4:7:55.77:142,0,56
2 61412559 rs777585 C T 2347.55 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.65;MQ0=0;QD=36.12;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AHSA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463681 GT:AD:DP:GQ:PL 1/1:0,65:65:99:2381,175,0
2 61413723 rs1809028 A G 1425.57 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.77;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AHSA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000487904 GT:AD:DP:GQ:PL 1/1:0,41:41:99:1459,114,0
2 61415492 rs14170 A G 673.11 PASS AB=0.549;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.398;DB;DP=51;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.55;MQ0=0;MQRankSum=1.429;QD=13.2;ReadPosRankSum=1.183;SNPEFF_AMINO_ACID_CHANGE=A3227;SNPEFF_CODON_CHANGE=gcT/gcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_61414591_61415844;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP34;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000398569 GT:AD:DP:GQ:PL 0/1:28,23:51:99:703,0,948
2 61416366 rs113183256 G A 34.94 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=0.72;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9092;MQ=60.0;MQ0=0;MQRankSum=0.72;QD=4.37;ReadPosRankSum=1.38;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AHSA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357022 GT:AD:DP:GQ:PL 0/1:4,3:8:64.93:65,0,141
2 61417617 rs777591 A G 998.86 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.2;MQ0=0;QD=34.44;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AHSA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357022 GT:AD:DP:GQ:PL 1/1:0,29:29:75.25:1032,75,0
2 61435847 rs4671397 G A 123.98 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP34;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472689 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:156,12,0
2 61450454 rs2123111 A G 586.64 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.66;MQ0=0;QD=29.33;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP34;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000453734 GT:AD:DP:GQ:PL 1/1:0,20:20:48.13:620,48,0
2 61456608 . AAAC A 4467.31 PASS AC=2;AF=1.00;AN=2;DP=168;FS=0.0;HRun=0;HaplotypeScore=1383.6165;IndelType=D;MQ=33.66;MQ0=0;QD=26.59;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP34;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263989 GT:AD:DP:GQ:PL 1/1:162,5:168:99:4467,474,0
2 61456610 rs71398609 AC A 4719.80 PASS AC=2;AF=1.00;AN=2;DB;DP=164;FS=0.0;HRun=1;HaplotypeScore=1296.9161;IndelType=D;MQ=33.52;MQ0=0;QD=28.78;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP34;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263989 GT:AD:DP:GQ:PL 1/1:138,18:164:99:4720,475,0
2 61456624 . C A 60.63 HaplotypeScoreFilter13;MQFilter40;QDFilter2 AC=2;AF=1.00;AN=2;DP=158;Dels=0.05;FS=0.0;HRun=12;HaplotypeScore=144.9369;MQ=35.16;MQ0=0;QD=0.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP34;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263989 GT:AD:DP:GQ:PL 1/1:68,90:158:9.02:93,9,0
2 61483548 rs72811482 A T 456.46 PASS AB=0.448;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.11;DB;DP=29;Dels=0.0;FS=3.31;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.153;QD=15.74;ReadPosRankSum=-0.241;SNPEFF_AMINO_ACID_CHANGE=H1912Q;SNPEFF_CODON_CHANGE=caT/caA;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_61483519_61483613;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP34;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000263989 GT:AD:DP:GQ:PL 0/1:13,16:29:99:486,0,348
2 61507588 . A G 47.34 PASS AC=2;AF=1.00;AN=2;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.67;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP34;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263989 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
2 61510709 rs67763106 TGAGTGA T 944.48 PASS AC=2;AF=1.00;AN=2;DB;DP=23;FS=0.0;HRun=0;HaplotypeScore=149.3964;IndelType=D;MQ=47.01;MQ0=0;QD=41.06;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP34;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263989 GT:AD:DP:GQ:PL 1/1:7,16:23:48.16:987,48,0
2 61522123 rs13014347 T C 1447.07 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.46;SNPEFF_AMINO_ACID_CHANGE=E1322;SNPEFF_CODON_CHANGE=gaA/gaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_61522084_61522167;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP34;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000263989 GT:AD:DP:GQ:PL 1/1:0,46:46:99:1480,111,0
2 61538613 . G GAAAA 1405.40 PASS AC=2;AF=1.00;AN=2;DP=22;FS=0.0;HRun=3;HaplotypeScore=235.2779;IndelType=I;MQ=36.64;MQ0=0;QD=63.88;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP34;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263989 GT:AD:DP:GQ:PL 1/1:12,10:22:66.11:1447,66,0
2 61538615 rs67180224 G GAAAAA 1754.18 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.103;DB;DP=23;FS=0.0;HRun=3;HaplotypeScore=217.6605;IndelType=I;MQ=37.96;MQ0=0;MQRankSum=-1.419;QD=76.27;ReadPosRankSum=0.788;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP34;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263989 GT:AD:DP:GQ:PL 1/1:13,10:23:60.19:1796,60,0
2 61552484 rs2593624 T A 517.50 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=57.66;MQ0=0;QD=25.88;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP34;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263989 GT:AD:DP:GQ:PL 1/1:1,19:20:48.14:551,48,0
2 61558615 rs56399248 T G 200.44 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.04;MQ0=0;QD=33.41;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP34;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263989 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:233,18,0
2 61575308 rs6722430 A G 1831.02 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.55;SNPEFF_AMINO_ACID_CHANGE=M509T;SNPEFF_CODON_CHANGE=aTg/aCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_61575005_61575615;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP34;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000263989 GT:AD:DP:GQ:PL 1/1:0,53:53:99:1864,141,0
2 61576517 rs811378 G A 438.16 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.7;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP34;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263989 GT:AD:DP:GQ:PL 1/1:0,13:13:36.11:471,36,0
2 61577435 rs2166720 T C 2358.87 PASS AC=2;AF=1.00;AN=2;DB;DP=72;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.36;MQ0=0;QD=32.76;SNPEFF_AMINO_ACID_CHANGE=A337;SNPEFF_CODON_CHANGE=gcA/gcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_61577395_61577524;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP34;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000263989 GT:AD:DP:GQ:PL 1/1:0,72:72:99:2392,184,0
2 61577949 rs811871 C T 762.59 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.13;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP34;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263989 GT:AD:DP:GQ:PL 1/1:0,20:20:60.18:796,60,0
2 61605379 rs10196146 C A 346.21 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.47;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP34;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263989 GT:AD:DP:GQ:PL 1/1:0,11:11:30.09:379,30,0
2 61605614 rs10208769 T A 1424.57 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-2.391;DB;DP=41;Dels=0.0;FS=6.351;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.422;QD=34.75;ReadPosRankSum=0.696;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP34;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263989 GT:AD:DP:GQ:PL 1/1:2,39:41:69.60:1458,70,0
2 61607510 rs988911 G A 406.89 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP34;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263989 GT:AD:DP:GQ:PL 1/1:0,13:13:33.11:440,33,0
2 61709349 rs9679557 C A 341.57 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.95;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XPO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461407 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:375,27,0
2 61709747 rs11360652 GT G 236.18 PASS AC=2;AF=1.00;AN=2;DB;DP=13;FS=0.0;HRun=12;HaplotypeScore=46.1885;IndelType=D;MQ=61.64;MQ0=0;QD=18.17;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XPO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461407 GT:AD:DP:GQ:PL 1/1:1,12:13:35.84:278,36,0
2 61711440 rs113311003 G A 90.06 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.02;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XPO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000494468 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:122,9,0
2 61722519 rs74392163 G GA 945.05 PASS AC=2;AF=1.00;AN=2;DB;DP=25;FS=0.0;HRun=5;HaplotypeScore=48.8214;IndelType=I;MQ=60.0;MQ0=0;QD=37.8;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XPO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000437159 GT:AD:DP:GQ:PL 1/1:0,25:25:75.24:987,75,0
2 61722904 rs12713437 C T 253.93 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.28;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XPO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000437159 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:287,21,0
2 61729258 rs2305155 A G 634.66 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.26;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XPO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468259 GT:AD:DP:GQ:PL 1/1:0,18:18:51.16:668,51,0
2 61729268 rs2305156 T C 745.16 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.26;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XPO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468259 GT:AD:DP:GQ:PL 1/1:0,20:20:57.18:778,57,0
2 61729641 rs7591345 T A 30.88 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=15.44;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XPO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401558 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:62,6,0
2 61729642 rs78621754 C A 30.88 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=51.77;MQ0=0;QD=10.29;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XPO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401558 GT:AD:DP:GQ:PL 1/1:0,3:3:6.01:62,6,0
2 61749690 rs3732171 C T 343.70 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.25;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XPO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420673 GT:AD:DP:GQ:PL 1/1:0,11:11:27.09:377,27,0
2 61749716 rs3732170 C T 392.41 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.19;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XPO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420673 GT:AD:DP:GQ:PL 1/1:0,13:13:30.10:425,30,0
2 61761169 rs1446532 G A 239.14 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.16;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_2_61760907_61761413;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XPO1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000420673 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:272,21,0
2 62053878 rs11392751 G GA 209.59 PASS AC=2;AF=1.00;AN=2;DB;DP=6;FS=0.0;HRun=8;HaplotypeScore=11.3022;IndelType=I;MQ=61.78;MQ0=0;QD=34.93;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=FAM161A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478494 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:251,18,0
2 62063093 rs11299120 TA T 425.03 PASS AB=0.618;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.007;DB;DP=97;FS=0.0;HRun=17;HaplotypeScore=531.3456;IndelType=D;MQ=55.64;MQ0=0;MQRankSum=-0.141;QD=4.38;ReadPosRankSum=3.419;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=FAM161A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307507 GT:AD:DP:GQ:PL 0/1:34,56:97:99:464,0,105
2 62065525 rs1548322 A G 597.93 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.5779;MQ=60.0;MQ0=0;QD=29.9;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=FAM161A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000404929 GT:AD:DP:GQ:PL 1/1:0,20:20:54.15:631,54,0
2 62066927 rs4672457 A G 1187.82 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.32;MQ0=0;QD=34.94;SNPEFF_AMINO_ACID_CHANGE=C404;SNPEFF_CODON_CHANGE=tgT/tgC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_62066556_62067716;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=FAM161A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000404929 GT:AD:DP:GQ:PL 1/1:0,34:34:96.29:1221,96,0
2 62069528 rs11125896 C T 570.43 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.03;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=FAM161A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000404929 GT:AD:DP:GQ:PL 1/1:0,15:15:45.12:603,45,0
2 62081012 rs4270331 A C 1487.04 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.03;MQ0=0;QD=30.98;SNPEFF_AMINO_ACID_CHANGE=A55;SNPEFF_CODON_CHANGE=gcT/gcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_62080994_62081188;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=FAM161A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000404929 GT:AD:DP:GQ:PL 1/1:0,48:48:99:1520,117,0
2 62081217 rs1881616 A G 476.71 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.67;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=FAM161A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307507 GT:AD:DP:GQ:PL 1/1:0,13:13:39.13:510,39,0
2 62095534 rs35906450 T C 46.65 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.32;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCT4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461540 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:78,6,0
2 62095994 rs4672463 A G 48.77 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCT4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000394440 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:80,6,0
2 62104343 rs7571143 C T 279.97 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCT4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000394440 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:313,24,0
2 62107376 rs5831625 T TC 2611.75 PASS AC=2;AF=1.00;AN=2;DB;DP=60;FS=0.0;HRun=0;HaplotypeScore=130.6442;IndelType=I;MQ=61.6;MQ0=0;QD=43.53;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCT4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000394440 GT:AD:DP:GQ:PL 1/1:1,59:60:99:2654,178,0
2 62107632 rs2272429 G A 830.56 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.19;MQ0=0;QD=36.11;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCT4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000394440 GT:AD:DP:GQ:PL 1/1:0,23:23:66.21:864,66,0
2 62112222 rs35876878 G GA 668.43 PASS AC=2;AF=1.00;AN=2;DB;DP=33;FS=0.0;HRun=8;HaplotypeScore=212.4424;IndelType=I;MQ=64.6;MQ0=0;QD=20.26;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCT4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461370 GT:AD:DP:GQ:PL 1/1:9,24:33:74.85:710,75,0
2 62112222 rs67059162 G A 32.81 HaplotypeScoreFilter13;QDFilter2 AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=8;HaplotypeScore=18.55;MQ=65.4;MQ0=0;QD=1.03;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCT4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461370 GT:AD:DP:GQ:PL 1/1:0,31:32:6.02:64,6,0
2 62362995 rs9096 T C 563.59 PASS AB=0.596;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.664;DB;DP=57;Dels=0.0;FS=5.557;HRun=0;HaplotypeScore=1.3302;MQ=60.0;MQ0=0;MQRankSum=-0.2;QD=9.89;ReadPosRankSum=0.516;SNPEFF_AMINO_ACID_CHANGE=*6R;SNPEFF_CODON_CHANGE=Tga/Cga;SNPEFF_EFFECT=STOP_LOST;SNPEFF_EXON_ID=exon_2_62362980_62363114;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=COMMD1;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000444166 GT:AD:DP:GQ:PL 0/1:34,23:57:99:594,0,1036
2 62373915 rs9752887 T C 575.04 PASS AB=0.504;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.202;DB;DP=113;Dels=0.0;FS=11.958;HRun=0;HaplotypeScore=1.6828;MQ=40.11;MQ0=9;MQRankSum=-8.455;QD=5.04;ReadPosRankSum=-0.746;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=COMMD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000444166 GT:AD:DP:GQ:PL 0/1:57,56:113:99:605,0,1787
2 62374457 rs112472291 T TA 142.03 PASS AB=0.815;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.24;DB;DP=43;FS=2.722;HRun=13;HaplotypeScore=162.3881;IndelType=I;MQ=47.99;MQ0=0;MQRankSum=0.63;QD=3.23;ReadPosRankSum=-1.443;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=COMMD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000444166 GT:AD:DP:GQ:PL 0/1:33,10:43:99:181,0,356
2 62729674 rs4672527 T C 709.77 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.86;SNPEFF_AMINO_ACID_CHANGE=L72;SNPEFF_CODON_CHANGE=ttA/ttG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_62729572_62729685;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM17;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000335390 GT:AD:DP:GQ:PL 1/1:0,23:23:57.17:743,57,0
2 62729747 rs112634086 G GA 1045.79 PASS AC=2;AF=1.00;AN=2;DB;DP=30;FS=0.0;HRun=6;HaplotypeScore=68.7933;IndelType=I;MQ=60.36;MQ0=0;QD=34.86;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000335390 GT:AD:DP:GQ:PL 1/1:2,28:30:87.28:1088,87,0
2 62730048 rs4672528 T A 259.05 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.01;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000335390 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:292,21,0
2 62733189 rs17854454 C T 195.49 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=1.694;DB;DP=18;Dels=0.0;FS=2.115;HRun=0;HaplotypeScore=0.0;MQ=57.9;MQ0=0;MQRankSum=1.588;QD=10.86;ReadPosRankSum=-0.212;SNPEFF_AMINO_ACID_CHANGE=G26S;SNPEFF_CODON_CHANGE=Ggt/Agt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_62733165_62733476;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM17;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000335390 GT:AD:DP:GQ:PL 0/1:10,8:18:99:225,0,284
2 62733253 rs11676567 C T 141.46 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.779;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.259;QD=11.79;ReadPosRankSum=-0.869;SNPEFF_AMINO_ACID_CHANGE=P4;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_62733165_62733476;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM17;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000335390 GT:AD:DP:GQ:PL 0/1:6,6:12:99:171,0,153
2 63170185 rs2539990 C T 82.13 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EHBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263991 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:114,9,0
2 63176012 . C A 412.21 PASS AB=0.531;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.195;DP=32;Dels=0.0;FS=3.192;HRun=0;HaplotypeScore=0.8321;MQ=59.28;MQ0=0;MQRankSum=0.615;QD=12.88;ReadPosRankSum=-0.615;SNPEFF_AMINO_ACID_CHANGE=P677;SNPEFF_CODON_CHANGE=ccC/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_63175395_63176297;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EHBP1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000354487 GT:AD:DP:GQ:PL 0/1:17,15:32:99:442,0,545
2 63380809 rs7595595 G A 243.29 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.76;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=WDPCP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272321 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:276,21,0
2 63401973 rs2421862 G A 540.51 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.865;DB;DP=42;Dels=0.0;FS=1.345;HRun=4;HaplotypeScore=1.9903;MQ=60.0;MQ0=0;MQRankSum=0.039;QD=12.87;ReadPosRankSum=-0.848;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=WDPCP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272321 GT:AD:DP:GQ:PL 0/1:21,21:42:99:571,0,639
2 63486429 rs992214 C T 534.18 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.648;DB;DP=42;Dels=0.0;FS=8.568;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=0.089;QD=12.72;ReadPosRankSum=-0.114;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=WDPCP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272321 GT:AD:DP:GQ:PL 0/1:24,18:42:99:564,0,854
2 63540523 rs1517402 A T 228.48 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.103;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.55;MQ0=0;MQRankSum=1.313;QD=14.28;ReadPosRankSum=-0.158;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=WDPCP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272321 GT:AD:DP:GQ:PL 0/1:8,8:16:99:258,0,245
2 63605430 rs2292795 A G 230.42 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.261;DB;DP=17;Dels=0.0;FS=3.274;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.048;QD=13.55;ReadPosRankSum=0.433;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=WDPCP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272321 GT:AD:DP:GQ:PL 0/1:8,9:17:99:260,0,278
2 63720210 rs7563623 A G 69.48 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=1.221;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.322;QD=8.68;ReadPosRankSum=0.322;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=WDPCP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272321 GT:AD:DP:GQ:PL 0/1:5,3:8:99:99,0,121
2 63816672 rs10469944 C G 89.84 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=1.061;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.212;QD=6.42;ReadPosRankSum=-0.636;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=MDH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233114 GT:AD:DP:GQ:PL 0/1:10,4:14:99:120,0,343
2 63822785 rs2305157 T C 37.93 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=9.48;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=MDH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000442225 GT:AD:DP:GQ:PL 0/1:2,2:4:67.59:68,0,68
2 63826528 rs7606045 T G 35.12 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=8.78;ReadPosRankSum=1.026;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=MDH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000436321 GT:AD:DP:GQ:PL 0/1:2,2:4:65.11:65,0,67
2 63833813 rs262473 G T 70.86 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.358;QD=14.17;ReadPosRankSum=-1.231;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=MDH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421012 GT:AD:DP:GQ:PL 0/1:2,3:5:63.16:101,0,63
2 63849491 rs262496 T C 442.06 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=1.509;DB;DP=30;Dels=0.0;FS=3.382;HRun=0;HaplotypeScore=0.0;MQ=59.9;MQ0=0;MQRankSum=-0.673;QD=14.74;ReadPosRankSum=-0.998;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=WDPCP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467687 GT:AD:DP:GQ:PL 0/1:14,16:30:99:472,0,418
2 64085114 rs10183479 G A 2471.29 PASS AC=2;AF=1.00;AN=2;DB;DP=69;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;QD=35.82;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UGP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465515 GT:AD:DP:GQ:PL 1/1:0,69:69:99:2504,193,0
2 64118158 rs11433092 T TA 89.81 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=9;FS=0.0;HRun=12;HaplotypeScore=55.6776;IndelType=I;MQ=54.65;MQ0=0;MQRankSum=0.736;QD=9.98;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UGP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000487469 GT:AD:DP:GQ:PL 0/1:3,6:9:3.88:128,0,4
2 64126775 rs78227932 C A 359.32 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.154;DB;DP=26;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.154;QD=13.82;ReadPosRankSum=0.103;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VPS54;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272322 GT:AD:DP:GQ:PL 0/1:13,13:26:99:389,0,443
2 64139901 rs2302809 A T 338.45 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=2.429;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.49;MQ0=0;MQRankSum=-0.176;QD=15.38;ReadPosRankSum=1.725;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VPS54;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272322 GT:AD:DP:GQ:PL 0/1:10,12:22:99:368,0,323
2 64140301 rs10207847 A T 229.78 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.555;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.448;QD=15.32;ReadPosRankSum=-0.428;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VPS54;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272322 GT:AD:DP:GQ:PL 0/1:7,8:15:99:260,0,234
2 64143884 rs13027117 T C 88.62 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.54;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VPS54;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272322 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:121,9,0
2 64174664 rs41291181 G A 391.25 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.816;DB;DP=20;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.347;QD=19.56;ReadPosRankSum=-0.424;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VPS54;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272322 GT:AD:DP:GQ:PL 0/1:8,12:20:99:421,0,281
2 64327544 rs329498 G T 1124.64 PASS AB=0.513;AC=1;AF=0.50;AN=2;BaseQRankSum=4.783;DB;DP=78;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=59.46;MQ0=0;MQRankSum=0.865;QD=14.42;ReadPosRankSum=-0.135;SNPEFF_AMINO_ACID_CHANGE=T97;SNPEFF_CODON_CHANGE=acC/acA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_64327532_64327633;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PELI1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000358912 GT:AD:DP:GQ:PL 0/1:40,38:78:99:1155,0,1081
2 64327592 rs329497 T C 1243.94 PASS AB=0.494;AC=1;AF=0.50;AN=2;BaseQRankSum=2.633;DB;DP=85;Dels=0.0;FS=5.533;HRun=0;HaplotypeScore=1.9203;MQ=59.51;MQ0=0;MQRankSum=-0.593;QD=14.63;ReadPosRankSum=0.98;SNPEFF_AMINO_ACID_CHANGE=L81;SNPEFF_CODON_CHANGE=ttA/ttG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_64327532_64327633;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PELI1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000358912 GT:AD:DP:GQ:PL 0/1:42,43:85:99:1274,0,1190
2 64331815 rs71941695 CT C 103.18 QDFilter2 AB=0.691;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.705;DB;DP=65;FS=12.187;HRun=17;HaplotypeScore=336.2618;IndelType=D;MQ=54.26;MQ0=0;MQRankSum=2.323;QD=1.59;ReadPosRankSum=1.535;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PELI1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468869 GT:AD:DP:GQ:PL 0/1:30,24:65:99:142,0,225
2 64335394 rs17753351 A G 646.94 PASS AB=0.536;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.104;DB;DP=56;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.093;QD=11.55;ReadPosRankSum=-0.565;SNPEFF_AMINO_ACID_CHANGE=Y17;SNPEFF_CODON_CHANGE=taT/taC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_64335374_64335513;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PELI1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000358912 GT:AD:DP:GQ:PL 0/1:30,26:56:99:677,0,846
2 64682364 rs3770741 A C 404.14 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.74;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC008074.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000238875 GT:AD:DP:GQ:PL 1/1:0,11:11:33.10:437,33,0
2 65217089 rs7559202 G C 257.52 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.61;SNPEFF_AMINO_ACID_CHANGE=S104;SNPEFF_CODON_CHANGE=tcG/tcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_65216535_65217304;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SLC1A4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000234256 GT:AD:DP:GQ:PL 1/1:0,9:9:21.07:290,21,0
2 65309988 rs1420183 T C 93.72 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.43;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CEP68;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000546106 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:126,9,0
2 65315880 rs1420184 G C 875.69 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.07;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CEP68;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260569 GT:AD:DP:GQ:PL 1/1:0,23:23:69.22:909,69,0
2 65315903 rs1420185 G A 652.97 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.09;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CEP68;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260569 GT:AD:DP:GQ:PL 1/1:0,21:21:54.16:686,54,0
2 65324902 rs6729273 T C 74.37 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.79;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RAB1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260638 GT:AD:DP:GQ:PL 1/1:0,3:3:9.02:106,9,0
2 65333300 rs10187798 A G 148.91 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.78;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RAB1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260638 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:182,15,0
2 65469623 . A G 145.22 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.741;QD=13.2;ReadPosRankSum=-0.365;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACTR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260641 GT:AD:DP:GQ:PL 0/1:5,6:11:97.80:175,0,98
2 65473930 rs58944514 AAAATTTTC A 3300.40 PASS AC=2;AF=1.00;AN=2;DB;DP=38;FS=0.0;HRun=0;HaplotypeScore=334.8234;IndelType=D;MQ=34.52;MQ0=0;QD=80.5;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACTR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471552 GT:AD:DP:GQ:PL 1/1:0,41:38:99:3300,114,0
2 65478003 rs268853 C T 171.50 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.3;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACTR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471552 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:204,15,0
2 65478371 rs7574628 T A 286.98 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.87;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACTR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471552 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:320,24,0
2 65480681 rs113106233 TAAAAG T 394.59 PASS AC=2;AF=1.00;AN=2;DB;DP=7;FS=0.0;HRun=0;HaplotypeScore=42.2149;IndelType=D;MQ=52.81;MQ0=0;QD=56.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACTR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260641 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:437,21,0
2 65481008 rs268871 A C 1482.92 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACTR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260641 GT:AD:DP:GQ:PL 1/1:0,49:49:99:1516,123,0
2 65488160 rs268861 A G 34.51 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=65.19;MQ0=0;QD=17.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACTR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260641 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:66,6,0
2 65488238 rs5831745 T TC 433.09 PASS AC=2;AF=1.00;AN=2;DB;DP=12;FS=0.0;HRun=4;HaplotypeScore=24.9531;IndelType=I;MQ=61.78;MQ0=0;QD=36.09;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACTR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260641 GT:AD:DP:GQ:PL 1/1:0,12:12:36.12:475,36,0
2 65488538 rs268862 G A 1829.63 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.52;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACTR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260641 GT:AD:DP:GQ:PL 1/1:0,53:53:99:1863,138,0
2 65492486 rs4671647 C T 128.02 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.6;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACTR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260641 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:161,12,0
2 65495570 rs55843720 A C 91.59 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=49.88;MQ0=0;QD=11.45;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACTR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000542850 GT:AD:DP:GQ:PL 1/1:0,8:8:14.97:124,15,0
2 65495571 rs60931828 T C 91.59 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=49.88;MQ0=0;QD=11.45;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACTR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000542850 GT:AD:DP:GQ:PL 1/1:0,8:8:14.97:124,15,0
2 65495573 rs113048830 A AC 346.99 PASS AC=2;AF=1.00;AN=2;DB;DP=9;FS=0.0;HRun=1;HaplotypeScore=88.9313;IndelType=I;MQ=46.46;MQ0=0;QD=34.7;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACTR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000542850 GT:AD:DP:GQ:PL 1/1:2,8:9:27.09:389,27,0
2 65495887 rs268875 G A 2406.38 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.08;MQ0=0;QD=35.39;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACTR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000542850 GT:AD:DP:GQ:PL 1/1:0,68:68:99:2439,184,0
2 65496018 rs11424 C G 366.75 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.68;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACTR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000535303 GT:AD:DP:GQ:PL 1/1:0,10:10:30.10:400,30,0
2 65540905 rs8827 C G 2318.09 PASS AC=2;AF=1.00;AN=2;DB;DP=74;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=59.69;MQ0=0;QD=31.33;SNPEFF_AMINO_ACID_CHANGE=A211;SNPEFF_CODON_CHANGE=gcG/gcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_65540837_65541303;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPRED2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000421087 GT:AD:DP:GQ:PL 1/1:0,74:74:99:2351,184,0
2 65559027 rs2271198 A G 119.77 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.464;QD=7.49;ReadPosRankSum=-1.247;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPRED2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426832 GT:AD:DP:GQ:PL 0/1:10,6:16:99:150,0,362
2 65604914 rs268120 A G 135.96 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.99;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPRED2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356388 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:168,12,0
2 65663936 rs11694714 C T 118.48 PASS AB=0.3;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.731;DB;DP=10;Dels=0.0;FS=6.99;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.214;QD=11.85;ReadPosRankSum=-0.296;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPRED2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356388 GT:AD:DP:GQ:PL 0/1:3,7:10:98.49:148,0,98
2 65664093 rs1437465 C G 41.11 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.56;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPRED2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356388 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:72,6,0
2 66794834 rs1000756 G A 76.53 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9999;MQ=60.0;MQ0=0;MQRankSum=-1.231;QD=15.31;ReadPosRankSum=1.231;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MEIS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475239 GT:AD:DP:GQ:PL 0/1:2,3:5:68.94:107,0,69
2 66798282 rs2861108 G T 401.38 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.49;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MEIS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000450027 GT:AD:DP:GQ:PL 1/1:0,11:11:33.11:434,33,0
2 67630980 rs3770657 G A 1374.90 PASS AB=0.416;AC=1;AF=0.50;AN=2;BaseQRankSum=2.558;DB;DP=77;Dels=0.0;FS=3.2;HRun=1;HaplotypeScore=0.9159;MQ=59.7;MQ0=0;MQRankSum=1.318;QD=17.86;ReadPosRankSum=0.801;SNPEFF_AMINO_ACID_CHANGE=S389N;SNPEFF_CODON_CHANGE=aGt/aAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_67630357_67632467;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ETAA1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000272342 GT:AD:DP:GQ:PL 0/1:32,45:77:99:1405,0,1030
2 67632125 rs3770655 C T 394.44 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.276;DB;DP=36;Dels=0.0;FS=7.279;HRun=2;HaplotypeScore=0.9867;MQ=60.0;MQ0=0;MQRankSum=-0.557;QD=10.96;ReadPosRankSum=0.398;SNPEFF_AMINO_ACID_CHANGE=P771S;SNPEFF_CODON_CHANGE=Cca/Tca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_67630357_67632467;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ETAA1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000272342 GT:AD:DP:GQ:PL 0/1:20,16:36:99:424,0,664
2 67637196 rs1569 G A 4574.34 PASS AC=2;AF=1.00;AN=2;DB;DP=130;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.68;MQ0=0;QD=35.19;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ETAA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462772 GT:AD:DP:GQ:PL 1/1:0,130:130:99:4574,340,0
2 68270068 rs10444 A G 211.37 PASS AB=0.63;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.29;DB;DP=27;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=47.58;MQ0=0;MQRankSum=-2.662;QD=7.83;ReadPosRankSum=-0.553;SNPEFF_AMINO_ACID_CHANGE=S127P;SNPEFF_CODON_CHANGE=Tcg/Ccg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_68268262_68270185;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1D;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000355848 GT:AD:DP:GQ:PL 0/1:17,10:27:99:241,0,456
2 68270258 rs10207196 C T 203.86 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.663;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=55.54;MQ0=0;MQRankSum=-0.663;QD=14.56;ReadPosRankSum=-0.299;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1D;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470189 GT:AD:DP:GQ:PL 0/1:7,7:14:99:234,0,242
2 68352515 rs6742154 A C 2328.52 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=3.175;DB;DP=204;Dels=0.0;FS=0.518;HRun=1;HaplotypeScore=3.6564;MQ=59.66;MQ0=0;MQRankSum=0.602;QD=11.41;ReadPosRankSum=1.72;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=WDR92;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295121 GT:AD:DP:GQ:PL 0/1:116,87:204:99:2359,0,3550
2 68358341 rs62145930 T C 423.40 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=1.635;DB;DP=27;Dels=0.0;FS=2.551;HRun=0;HaplotypeScore=0.0;MQ=59.63;MQ0=0;MQRankSum=-0.903;QD=15.68;ReadPosRankSum=0.024;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PPP3R1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000406334 GT:AD:DP:GQ:PL 0/1:12,15:27:99:453,0,351
2 68358653 rs17035004 T C 46 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.92;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.684;QD=5.75;ReadPosRankSum=-0.684;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=WDR92;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000406245 GT:AD:DP:GQ:PL 0/1:5,3:8:76:76,0,181
2 68364478 rs13009282 T C 561.58 PASS AB=0.465;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.033;DB;DP=43;Dels=0.0;FS=2.623;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.061;QD=13.06;ReadPosRankSum=-0.597;SNPEFF_AMINO_ACID_CHANGE=M140V;SNPEFF_CODON_CHANGE=Atg/Gtg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_68364431_68364565;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=WDR92;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000406245 GT:AD:DP:GQ:PL 0/1:20,23:43:99:592,0,632
2 68385097 rs2044693 A G 933.41 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=58.59;MQ0=0;QD=28.29;SNPEFF_AMINO_ACID_CHANGE=R11G;SNPEFF_CODON_CHANGE=Agg/Ggg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_68384976_68385273;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PNO1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000263657 GT:AD:DP:GQ:PL 1/1:0,33:33:78.20:966,78,0
2 68388823 rs1137930 A G 272.50 PASS AB=0.474;AC=1;AF=0.50;AN=2;BaseQRankSum=0.133;DB;DP=19;Dels=0.0;FS=2.197;HRun=1;HaplotypeScore=0.9159;MQ=58.78;MQ0=0;MQRankSum=-0.133;QD=14.34;ReadPosRankSum=0.044;SNPEFF_AMINO_ACID_CHANGE=K122;SNPEFF_CODON_CHANGE=aaA/aaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_68388815_68388898;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PNO1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000263657 GT:AD:DP:GQ:PL 0/1:9,10:19:99:302,0,229
2 68389481 rs3217588 CTT C 733.29 PASS AB=0.661;AC=1;AF=0.50;AN=2;BaseQRankSum=3.654;DB;DP=36;FS=0.0;HRun=2;HaplotypeScore=121.1694;IndelType=D;MQ=59.56;MQ0=1;MQRankSum=-0.111;QD=19.82;ReadPosRankSum=-0.522;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PNO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000430742 GT:AD:DP:GQ:PL 0/1:18,19:36:99:772,0,945
2 68389919 rs7606087 C T 177.52 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.387;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.466;QD=16.14;ReadPosRankSum=-0.717;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PNO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000430742 GT:AD:DP:GQ:PL 0/1:5,6:11:99:208,0,162
2 68402012 rs1060842 G T 489.22 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.63;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PPP3R1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234310 GT:AD:DP:GQ:PL 1/1:0,13:13:39.13:522,39,0
2 68407926 rs875 A G 33.32 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=6.66;ReadPosRankSum=0.358;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PNO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263657 GT:AD:DP:GQ:PL 0/1:3,2:5:63.31:63,0,106
2 68413437 rs140773 G GTTAA 524.80 PASS AC=2;AF=1.00;AN=2;DB;DP=8;FS=0.0;HRun=0;HaplotypeScore=29.0099;IndelType=I;MQ=48.82;MQ0=0;QD=65.6;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PPP3R1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234310 GT:AD:DP:GQ:PL 1/1:1,6:8:24.08:567,24,0
2 68415563 rs11343435 CT C 50.29 QDFilter2 AB=0.694;AC=1;AF=0.50;AN=2;BaseQRankSum=0.716;DB;DP=34;FS=0.0;HRun=15;HaplotypeScore=190.6072;IndelType=D;MQ=58.26;MQ0=0;MQRankSum=0.596;QD=1.48;ReadPosRankSum=-1.133;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PPP3R1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234310 GT:AD:DP:GQ:PL 0/1:17,15:34:89.32:89,0,300
2 68415767 rs11692815 G A 1696.51 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.009;DB;DP=117;Dels=0.0;FS=9.305;HRun=0;HaplotypeScore=2.9754;MQ=59.01;MQ0=0;MQRankSum=-0.888;QD=14.5;ReadPosRankSum=1.266;SNPEFF_AMINO_ACID_CHANGE=D23;SNPEFF_CODON_CHANGE=gaC/gaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_68415646_68415822;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PPP3R1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000409377 GT:AD:DP:GQ:PL 0/1:63,54:117:99:1727,0,2117
2 68444143 rs141263920 TAC T 142.86 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.179;DB;DP=12;FS=0.0;HRun=0;HaplotypeScore=108.0098;IndelType=D;MQ=53.95;MQ0=0;MQRankSum=1.666;QD=11.91;ReadPosRankSum=-1.666;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PPP3R1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234310 GT:AD:DP:GQ:PL 0/1:6,5:12:25.10:182,0,25
2 68500221 rs6750368 A G 593.14 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.89;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AC017083.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408516 GT:AD:DP:GQ:PL 1/1:0,17:17:51.15:626,51,0
2 68500578 rs62143871 C A 35.45 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=8.86;ReadPosRankSum=-1.026;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AC017083.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408516 GT:AD:DP:GQ:PL 0/1:2,2:4:65.45:65,0,66
2 68511506 rs112316333 GA G 144.38 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.393;DB;DP=11;FS=0.0;HRun=12;HaplotypeScore=35.4246;IndelType=D;MQ=56.71;MQ0=0;MQRankSum=-0.348;QD=13.13;ReadPosRankSum=0.696;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNRIP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409559 GT:AD:DP:GQ:PL 1/1:1,10:11:5.31:184,5,0
2 68511584 rs735815 A G 252.97 PASS AB=0.639;AC=1;AF=0.50;AN=2;BaseQRankSum=0.678;DB;DP=36;Dels=0.0;FS=1.399;HRun=1;HaplotypeScore=0.5784;MQ=59.02;MQ0=0;MQRankSum=0.156;QD=7.03;ReadPosRankSum=-0.33;SNPEFF_AMINO_ACID_CHANGE=S121;SNPEFF_CODON_CHANGE=tcT/tcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_68511303_68511616;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNRIP1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000409559 GT:AD:DP:GQ:PL 0/1:23,13:36:99:283,0,682
2 68592315 rs3732046 A C 85.17 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.39;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_2_68592305_68592525;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234313 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:117,9,0
2 68592584 rs880668 T C 1457.11 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.89;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234313 GT:AD:DP:GQ:PL 1/1:0,43:43:99:1490,117,0
2 68592700 rs3770651 A G 180.62 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234313 GT:AD:DP:GQ:PL 1/1:0,6:6:18.04:213,18,0
2 68607271 rs17035388 G A 112.70 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=1.754;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.62;MQ0=0;MQRankSum=1.754;QD=16.1;ReadPosRankSum=1.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234313 GT:AD:DP:GQ:PL 0/1:3,4:7:78.21:143,0,78
2 68607293 rs72894177 C G 109.12 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.62;MQ0=0;MQRankSum=0.72;QD=15.59;ReadPosRankSum=-0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234313 GT:AD:DP:GQ:PL 0/1:2,5:7:45.97:139,0,46
2 68607713 rs7578296 C G 360.46 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.01;DB;DP=25;Dels=0.0;FS=9.034;HRun=0;HaplotypeScore=1.5661;MQ=59.07;MQ0=0;MQRankSum=-1.126;QD=14.42;ReadPosRankSum=-0.202;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234313 GT:AD:DP:GQ:PL 0/1:12,12:25:99:390,0,410
2 68607947 rs3816281 G T 1369.09 PASS AB=0.525;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.307;DB;DP=101;Dels=0.0;FS=0.751;HRun=0;HaplotypeScore=2.7474;MQ=59.13;MQ0=0;MQRankSum=-1.209;QD=13.56;ReadPosRankSum=1.119;SNPEFF_AMINO_ACID_CHANGE=K97N;SNPEFF_CODON_CHANGE=aaG/aaT;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_68607855_68608036;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEK;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000234313 GT:AD:DP:GQ:PL 0/1:53,48:101:99:1399,0,1764
2 68615438 rs3217525 A AG 273.18 PASS AB=0.69;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.98;DB;DP=20;FS=0.0;HRun=4;HaplotypeScore=79.4166;IndelType=I;MQ=59.39;MQ0=0;MQRankSum=0.776;QD=13.66;ReadPosRankSum=-0.449;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234313 GT:AD:DP:GQ:PL 0/1:11,9:20:99:312,0,282
2 68620151 rs2289689 C T 277.26 PASS AB=0.565;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.194;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=60.0;MQ0=0;MQRankSum=-0.279;QD=12.05;ReadPosRankSum=-0.465;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234313 GT:AD:DP:GQ:PL 0/1:13,10:23:99:307,0,460
2 68620463 rs2289688 G A 559.21 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.842;DB;DP=45;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.216;QD=12.43;ReadPosRankSum=-0.799;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234313 GT:AD:DP:GQ:PL 0/1:27,18:45:99:589,0,975
2 68622658 rs1373200 C T 169.18 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.323;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.581;QD=12.08;ReadPosRankSum=0.839;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234313 GT:AD:DP:GQ:PL 0/1:8,6:14:99:199,0,287
2 68622914 rs1063479 G A 1312.47 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9996;MQ=58.89;MQ0=0;QD=31.25;SNPEFF_AMINO_ACID_CHANGE=R340K;SNPEFF_CODON_CHANGE=aGa/aAa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_68622812_68624585;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEK;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000234313 GT:AD:DP:GQ:PL 1/1:0,42:42:99:1345,99,0
2 68622952 rs1050181 G C 331.19 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.112;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.14;MQ0=0;MQRankSum=-2.186;QD=12.27;ReadPosRankSum=-0.129;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474788 GT:AD:DP:GQ:PL 0/1:12,15:27:99:361,0,385
2 68622990 rs6725743 T C 226.32 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.006;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.394;QD=10.29;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474788 GT:AD:DP:GQ:PL 0/1:11,11:22:99:256,0,396
2 68740519 rs11691554 C T 864.84 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.04;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=APLF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303795 GT:AD:DP:GQ:PL 1/1:0,22:24:66.22:898,66,0
2 68755797 . G A 273.41 MQFilter40 AB=0.557;AC=1;AF=0.50;AN=2;BaseQRankSum=1.965;DP=88;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=14.42;MQ0=55;MQRankSum=-0.767;QD=3.11;ReadPosRankSum=0.094;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=APLF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303795 GT:AD:DP:GQ:PL 0/1:49,39:88:99:303,0,242
2 68804884 . AG A 209.28 PASS AB=0.724;AC=1;AF=0.50;AN=2;BaseQRankSum=3.15;DP=21;FS=0.0;HRun=2;HaplotypeScore=54.2582;IndelType=D;MQ=59.42;MQ0=0;MQRankSum=-0.833;QD=9.97;ReadPosRankSum=-1.412;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=APLF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303795 GT:AD:DP:GQ:PL 0/1:13,8:21:99:248,0,522
2 68962259 rs34504087 T C 330.71 PASS AB=0.474;AC=1;AF=0.50;AN=2;BaseQRankSum=3.388;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.8244;MQ=60.0;MQ0=0;MQRankSum=0.204;QD=17.41;ReadPosRankSum=1.347;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ARHGAP25;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000544262 GT:AD:DP:GQ:PL 0/1:9,10:19:99:361,0,278
2 68962570 rs71413157 G A 144.02 PASS AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=24.0;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ARHGAP25;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295381 GT:AD:DP:GQ:PL 0/1:1,5:6:24.59:174,0,25
2 69002281 rs11685672 C G 2027.49 PASS AB=0.463;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.085;DB;DP=134;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=59.66;MQ0=0;MQRankSum=0.463;QD=15.13;ReadPosRankSum=-1.461;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_2_69001933_69002552;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ARHGAP25;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000409030 GT:AD:DP:GQ:PL 0/1:62,72:134:99:2057,0,1996
2 69009304 rs2271834 C T 676.29 PASS AB=0.542;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.588;DB;DP=48;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=1.247;QD=14.09;ReadPosRankSum=0.693;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ARHGAP25;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295381 GT:AD:DP:GQ:PL 0/1:26,22:48:99:706,0,825
2 69040216 rs2280309 G T 84.75 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.25;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ARHGAP25;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295381 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:117,9,0
2 69040500 rs2280310 G A 946.50 PASS AB=0.326;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.117;DB;DP=43;Dels=0.0;FS=5.11;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.35;QD=22.01;ReadPosRankSum=-0.039;SNPEFF_AMINO_ACID_CHANGE=Q212;SNPEFF_CODON_CHANGE=caG/caA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_69040419_69040551;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ARHGAP25;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000467265 GT:AD:DP:GQ:PL 0/1:14,29:43:99:976,0,411
2 69043264 rs111911332 CT C 129.78 PASS AC=2;AF=1.00;AN=2;DB;DP=8;FS=0.0;HRun=11;HaplotypeScore=53.4306;IndelType=D;MQ=57.05;MQ0=0;QD=16.22;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ARHGAP25;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456116 GT:AD:DP:GQ:PL 1/1:1,7:8:20.97:172,21,0
2 69043539 rs2271832 G C 308.56 PASS AB=0.565;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.395;DB;DP=23;Dels=0.0;FS=3.617;HRun=0;HaplotypeScore=0.0;MQ=58.99;MQ0=0;MQRankSum=-0.403;QD=13.42;ReadPosRankSum=-0.527;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ARHGAP25;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456116 GT:AD:DP:GQ:PL 0/1:13,10:23:99:339,0,471
2 69043681 rs939060 A C 82.10 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.37;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ARHGAP25;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456116 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:114,9,0
2 69045158 rs10197806 C A 436.64 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.419;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.6094;MQ=56.85;MQ0=0;MQRankSum=-0.336;QD=12.13;ReadPosRankSum=0.889;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ARHGAP25;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456116 GT:AD:DP:GQ:PL 0/1:18,18:36:99:467,0,533
2 69045256 rs13418133 C A 174.68 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=1.031;DB;DP=11;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=55.66;MQ0=0;MQRankSum=0.825;QD=15.88;ReadPosRankSum=-0.825;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ARHGAP25;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456116 GT:AD:DP:GQ:PL 0/1:5,6:11:99:205,0,154
2 69046406 rs17604346 C T 1537.87 PASS AB=0.542;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.326;DB;DP=120;Dels=0.0;FS=3.615;HRun=0;HaplotypeScore=5.0004;MQ=59.84;MQ0=0;MQRankSum=1.088;QD=12.82;ReadPosRankSum=-0.348;SNPEFF_AMINO_ACID_CHANGE=A345;SNPEFF_CODON_CHANGE=gcC/gcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_69046255_69046451;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ARHGAP25;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000467265 GT:AD:DP:GQ:PL 0/1:65,55:120:99:1568,0,2052
2 69049398 rs35216182 C G 1441.31 PASS AB=0.564;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.264;DB;DP=117;Dels=0.0;FS=0.89;HRun=0;HaplotypeScore=0.9665;MQ=59.8;MQ0=0;MQRankSum=-0.812;QD=12.32;ReadPosRankSum=-0.011;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ARHGAP25;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473986 GT:AD:DP:GQ:PL 0/1:66,51:117:99:1471,0,1994
2 69049939 rs4241344 G T 1476.43 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.881;DB;DP=100;Dels=0.0;FS=1.632;HRun=0;HaplotypeScore=0.9998;MQ=60.0;MQ0=0;MQRankSum=-0.059;QD=14.76;ReadPosRankSum=-0.115;SNPEFF_AMINO_ACID_CHANGE=R249S;SNPEFF_CODON_CHANGE=agG/agT;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_69049472_69050004;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ARHGAP25;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000479844 GT:AD:DP:GQ:PL 0/1:50,50:100:99:1506,0,1586
2 69049941 rs10177248 T C 1344.12 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.246;DB;DP=98;Dels=0.0;FS=0.772;HRun=0;HaplotypeScore=1.8939;MQ=60.0;MQ0=0;MQRankSum=0.985;QD=13.72;ReadPosRankSum=-0.133;SNPEFF_AMINO_ACID_CHANGE=M250T;SNPEFF_CODON_CHANGE=aTg/aCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_69049472_69050004;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ARHGAP25;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000479844 GT:AD:DP:GQ:PL 0/1:49,49:98:99:1374,0,1607
2 69052991 rs2311421 A G 55.47 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.988;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=9.25;ReadPosRankSum=0.406;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ARHGAP25;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295381 GT:AD:DP:GQ:PL 0/1:3,3:6:85.47:85,0,99
2 69053557 rs9902 T C 36.96 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.48;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ARHGAP25;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467265 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:68,6,0
2 69180161 rs7561266 T A 90.43 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.14;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GKN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328895 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:122,9,0
2 69201894 rs4417751 C T 473.35 PASS AB=0.531;AC=1;AF=0.50;AN=2;BaseQRankSum=1.85;DB;DP=32;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.42;MQ0=0;MQRankSum=-0.076;QD=14.79;ReadPosRankSum=1.888;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GKN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000377938 GT:AD:DP:GQ:PL 0/1:17,15:32:99:503,0,563
2 69204671 rs9808077 A T 600.87 PASS AB=0.542;AC=1;AF=0.50;AN=2;BaseQRankSum=0.396;DB;DP=48;Dels=0.0;FS=1.133;HRun=1;HaplotypeScore=0.9789;MQ=60.0;MQ0=0;MQRankSum=0.674;QD=12.52;ReadPosRankSum=0.717;SNPEFF_AMINO_ACID_CHANGE=L33;SNPEFF_CODON_CHANGE=ctA/ctT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_69204627_69204680;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GKN1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000377938 GT:AD:DP:GQ:PL 0/1:26,22:48:99:631,0,765
2 69205023 rs146210841 TAC T 250.66 PASS AB=0.679;AC=1;AF=0.50;AN=2;BaseQRankSum=3.51;DB;DP=19;FS=0.0;HRun=0;HaplotypeScore=60.7295;IndelType=D;MQ=57.46;MQ0=0;MQRankSum=-0.311;QD=13.19;ReadPosRankSum=-0.578;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GKN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000377938 GT:AD:DP:GQ:PL 0/1:10,9:19:99:290,0,493
2 69207255 rs62133357 C T 388.61 PASS AB=0.278;AC=1;AF=0.50;AN=2;BaseQRankSum=2.661;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9578;MQ=58.96;MQ0=0;MQRankSum=1.774;QD=21.59;ReadPosRankSum=-0.986;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GKN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478888 GT:AD:DP:GQ:PL 0/1:5,13:18:97.94:419,0,98
2 69207357 rs57983899 T C 32.21 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=44.58;MQ0=0;MQRankSum=-0.736;QD=10.74;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GKN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478888 GT:AD:DP:GQ:PL 0/1:1,2:3:32.20:62,0,32
2 69208021 rs13431582 C T 57.63 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=0.296;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.296;QD=5.76;ReadPosRankSum=2.166;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GKN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478888 GT:AD:DP:GQ:PL 0/1:7,3:10:87.63:88,0,233
2 69272093 rs62135618 G A 110.42 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.731;QD=22.08;ReadPosRankSum=-0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANTXR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303714 GT:AD:DP:GQ:PL 0/1:1,4:5:26.71:140,0,27
2 69297622 rs4591376 C T 143.83 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=0.143;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9734;MQ=60.0;MQ0=0;MQRankSum=-0.387;QD=13.08;ReadPosRankSum=-2.637;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANTXR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303714 GT:AD:DP:GQ:PL 0/1:6,5:11:99:174,0,211
2 69298817 rs13030844 T C 240.07 PASS AB=0.565;AC=1;AF=0.50;AN=2;BaseQRankSum=2.14;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.217;QD=10.44;ReadPosRankSum=-1.519;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANTXR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303714 GT:AD:DP:GQ:PL 0/1:13,10:23:99:270,0,441
2 69317925 rs4854546 G A 319.34 PASS AB=0.389;AC=1;AF=0.50;AN=2;BaseQRankSum=1.658;DB;DP=18;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=57.64;MQ0=0;MQRankSum=-0.452;QD=17.74;ReadPosRankSum=0.452;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANTXR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303714 GT:AD:DP:GQ:PL 0/1:7,11:18:99:349,0,180
2 69318129 rs4241348 T G 467.47 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.39;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANTXR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481119 GT:AD:DP:GQ:PL 1/1:0,14:14:39.11:500,39,0
2 69330284 rs4241349 G A 45.75 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=11.44;ReadPosRankSum=-0.727;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANTXR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000497197 GT:AD:DP:GQ:PL 0/1:1,3:4:30.98:76,0,31
2 69350343 rs77890195 G A 67.56 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.246;QD=6.14;ReadPosRankSum=-1.034;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANTXR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303714 GT:AD:DP:GQ:PL 0/1:7,4:11:97.55:98,0,218
2 69351541 rs75580794 A G 91.55 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.754;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.3;QD=13.08;ReadPosRankSum=0.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANTXR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303714 GT:AD:DP:GQ:PL 0/1:3,4:7:99:122,0,103
2 69351621 rs11126217 T A 744.36 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.83;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANTXR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303714 GT:AD:DP:GQ:PL 1/1:0,22:22:57.19:777,57,0
2 69364730 rs62134409 G T 118.70 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=0.259;DB;DP=13;Dels=0.0;FS=12.175;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.191;QD=9.13;ReadPosRankSum=-1.073;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANTXR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303714 GT:AD:DP:GQ:PL 0/1:6,7:13:99:149,0,210
2 69398263 rs4299364 G A 33.19 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=5.53;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANTXR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303714 GT:AD:DP:GQ:PL 0/1:4,2:6:63.18:63,0,142
2 69409029 rs6749826 C A 511.61 PASS AB=0.525;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.463;DB;DP=40;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.4258;MQ=60.0;MQ0=0;MQRankSum=-0.488;QD=12.79;ReadPosRankSum=1.517;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANTXR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303714 GT:AD:DP:GQ:PL 0/1:21,19:40:99:542,0,714
2 69420591 rs71928396 T TCTCA 649.54 PASS AB=0.723;AC=1;AF=0.50;AN=2;BaseQRankSum=2.368;DB;DP=34;FS=1.773;HRun=0;HaplotypeScore=247.9664;IndelType=I;MQ=60.83;MQ0=0;MQRankSum=3.127;QD=19.1;ReadPosRankSum=0.09;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANTXR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303714 GT:AD:DP:GQ:PL 0/1:21,11:34:99:689,0,819
2 69475273 rs58786516 CAT C 1600.29 PASS AB=0.732;AC=1;AF=0.50;AN=2;BaseQRankSum=5.095;DB;DP=90;FS=0.0;HRun=0;HaplotypeScore=315.0594;IndelType=D;MQ=57.92;MQ0=0;MQRankSum=-0.11;QD=17.78;ReadPosRankSum=0.369;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANTXR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303714 GT:AD:DP:GQ:PL 0/1:57,33:90:99:1639,0,2729
2 69475343 rs112401681 GT G 918.19 PASS AB=0.725;AC=1;AF=0.50;AN=2;BaseQRankSum=5.263;DB;DP=145;FS=2.226;HRun=11;HaplotypeScore=525.0372;IndelType=D;MQ=58.39;MQ0=0;MQRankSum=-0.211;QD=6.33;ReadPosRankSum=0.064;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANTXR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303714 GT:AD:DP:GQ:PL 0/1:89,54:145:99:957,0,1868
2 69741609 rs2276689 C T 2182.09 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9734;MQ=60.0;MQ0=0;QD=33.57;SNPEFF_AMINO_ACID_CHANGE=E590;SNPEFF_CODON_CHANGE=gaG/gaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_69741603_69741881;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AAK1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000406297 GT:AD:DP:GQ:PL 1/1:0,65:65:99:2215,168,0
2 69741753 rs3832159 CTGT C 912.01 PASS AC=2;AF=1.00;AN=2;DB;DP=24;FS=0.0;HRun=0;HaplotypeScore=105.0642;IndelType=D;MQ=64.78;MQ0=0;QD=38.0;SNPEFF_AMINO_ACID_CHANGE=QQ541Q;SNPEFF_CODON_CHANGE=caacag/cag;SNPEFF_EFFECT=CODON_CHANGE_PLUS_CODON_DELETION;SNPEFF_EXON_ID=exon_2_69741603_69741881;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AAK1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000406297 GT:AD:DP:GQ:PL 1/1:1,23:24:66.22:954,66,0
2 69741854 rs6715776 T G 1218.38 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;QD=34.81;SNPEFF_AMINO_ACID_CHANGE=K509Q;SNPEFF_CODON_CHANGE=Aaa/Caa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_69741603_69741881;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AAK1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000406297 GT:AD:DP:GQ:PL 1/1:0,35:35:93.30:1251,93,0
2 69742067 rs12469876 T A 69.90 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AAK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000406297 GT:AD:DP:GQ:PL 1/1:0,3:3:9.02:102,9,0
2 69747817 rs2312211 G C 1191.44 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.23;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AAK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000406297 GT:AD:DP:GQ:PL 1/1:0,32:32:93.28:1224,93,0
2 69754565 rs17570697 T C 266.77 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=1.66;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.28;MQ0=0;MQRankSum=0.501;QD=10.26;ReadPosRankSum=0.395;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AAK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470281 GT:AD:DP:GQ:PL 0/1:16,10:26:99:297,0,551
2 69758927 rs1985342 C T 50.63 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AAK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000406297 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
2 69759415 rs2276687 G A 825.11 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AAK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000406297 GT:AD:DP:GQ:PL 1/1:0,24:24:69.22:858,69,0
2 69771484 rs3771544 C T 1449.70 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.41;MQ0=0;QD=30.84;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AAK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000406297 GT:AD:DP:GQ:PL 1/1:0,47:47:99:1483,114,0
2 69784255 rs3771543 C T 664.66 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.93;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AAK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000406297 GT:AD:DP:GQ:PL 1/1:0,18:18:54.17:698,54,0
2 69784278 rs3821277 T C 465.26 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.23;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AAK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000406297 GT:AD:DP:GQ:PL 1/1:0,14:14:42.12:498,42,0
2 70014986 rs11677629 T C 590.52 PASS AB=0.621;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.264;DB;DP=58;Dels=0.0;FS=2.503;HRun=1;HaplotypeScore=0.9973;MQ=59.6;MQ0=0;MQRankSum=-0.761;QD=10.18;ReadPosRankSum=-0.633;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ANXA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000394295 GT:AD:DP:GQ:PL 0/1:36,22:58:99:621,0,1068
2 70015181 rs10496171 C T 457.78 PASS AB=0.605;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.359;DB;DP=43;Dels=0.0;FS=1.21;HRun=1;HaplotypeScore=0.9979;MQ=60.0;MQ0=0;MQRankSum=0.436;QD=10.65;ReadPosRankSum=-1.23;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ANXA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000394295 GT:AD:DP:GQ:PL 0/1:26,17:43:99:488,0,842
2 70015491 rs10186725 A G 33.09 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=16.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ANXA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000394295 GT:AD:DP:GQ:PL 1/1:0,2:2:6:64,6,0
2 70031797 rs3771541 C G 385.32 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.05;MQ0=0;QD=32.11;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ANXA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484219 GT:AD:DP:GQ:PL 1/1:0,12:12:33.08:418,33,0
2 70033584 rs2228203 C T 348.06 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=2.34;DB;DP=26;Dels=0.0;FS=1.54;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.797;QD=13.39;ReadPosRankSum=-0.386;SNPEFF_AMINO_ACID_CHANGE=T3M;SNPEFF_CODON_CHANGE=aCg/aTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_70033517_70033630;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ANXA4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000536030 GT:AD:DP:GQ:PL 0/1:12,14:26:99:378,0,373
2 70033649 rs17037076 G A 251.68 PASS AB=0.385;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.696;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.545;QD=19.36;ReadPosRankSum=0.212;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ANXA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484219 GT:AD:DP:GQ:PL 0/1:5,8:13:99:282,0,162
2 70033711 rs3771539 G C 35.60 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.04;MQ0=0;MQRankSum=0.72;QD=5.93;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ANXA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484219 GT:AD:DP:GQ:PL 0/1:4,2:6:65.59:66,0,143
2 70033795 rs3771538 A T 39.99 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=47.12;MQ0=0;QD=19.99;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ANXA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484219 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:71,6,0
2 70039677 rs2305523 A C 212.48 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.41;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ANXA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460439 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:245,18,0
2 70047644 rs2290452 G A 67.64 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.727;QD=16.91;ReadPosRankSum=-0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ANXA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000394295 GT:AD:DP:GQ:PL 0/1:1,3:4:30.98:98,0,31
2 70064927 rs1377996 C A 141.83 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.259;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.467;QD=11.82;ReadPosRankSum=-0.259;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GMCL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282570 GT:AD:DP:GQ:PL 0/1:6,6:12:99:172,0,206
2 70068057 rs3771533 G A 391.58 PASS AB=0.409;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.334;DB;DP=22;Dels=0.0;FS=2.969;HRun=0;HaplotypeScore=0.9332;MQ=60.0;MQ0=0;MQRankSum=1.469;QD=17.8;ReadPosRankSum=0.668;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GMCL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282570 GT:AD:DP:GQ:PL 0/1:9,13:22:99:422,0,265
2 70068258 rs3836157 CT C 119.51 PASS AC=2;AF=1.00;AN=2;DB;DP=6;FS=0.0;HRun=6;HaplotypeScore=15.4243;IndelType=D;MQ=60.0;MQ0=0;QD=19.92;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GMCL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468386 GT:AD:DP:GQ:PL 1/1:1,5:6:15.04:161,15,0
2 70076954 rs4852349 A T 483.23 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.22;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GMCL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282570 GT:AD:DP:GQ:PL 1/1:0,15:15:39.13:516,39,0
2 70098808 rs3214007 A G 424.58 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GMCL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282570 GT:AD:DP:GQ:PL 1/1:0,12:12:36.11:458,36,0
2 70121197 rs2278934 T C 86.98 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.52;DB;DP=11;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.278;QD=7.91;ReadPosRankSum=1.398;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SNRNP27;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000244227 GT:AD:DP:GQ:PL 0/1:7,4:11:99:117,0,218
2 70124316 rs3752781 T A 88.11 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;QD=22.03;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SNRNP27;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000244227 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:120,9,0
2 70124805 rs6720498 T C 89.26 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.75;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SNRNP27;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000244227 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:121,9,0
2 70131320 rs71397376 G GT 439.72 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.066;DB;DP=30;FS=4.929;HRun=11;HaplotypeScore=93.6687;IndelType=I;MQ=59.96;MQ0=0;MQRankSum=2.017;QD=14.66;ReadPosRankSum=-0.246;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SNRNP27;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000488986 GT:AD:DP:GQ:PL 0/1:12,18:30:99:479,0,125
2 70131584 rs1048130 G A 746.20 PASS AB=0.574;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.244;DB;DP=61;Dels=0.0;FS=2.034;HRun=0;HaplotypeScore=2.6775;MQ=58.47;MQ0=0;MQRankSum=1.41;QD=12.23;ReadPosRankSum=-0.246;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SNRNP27;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000488986 GT:AD:DP:GQ:PL 0/1:35,26:61:99:776,0,1171
2 70131663 rs71397377 GCGTCAAC G 572.12 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=0.289;DB;DP=12;FS=0.0;HRun=0;HaplotypeScore=95.1875;IndelType=D;MQ=41.96;MQ0=0;MQRankSum=-2.637;QD=47.68;ReadPosRankSum=0.289;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SNRNP27;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000488986 GT:AD:DP:GQ:PL 0/1:4,8:12:99:611,0,433
2 70162534 rs11126250 T G 4016.71 PASS AC=2;AF=1.00;AN=2;DB;DP=118;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.4972;MQ=59.8;MQ0=0;QD=34.04;SNPEFF_AMINO_ACID_CHANGE=L53;SNPEFF_CODON_CHANGE=ctT/ctG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_70162483_70162597;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MXD1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000435990 GT:AD:DP:GQ:PL 1/1:0,118:118:99:4017,313,0
2 70164034 rs3771531 T C 52.28 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MXD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264444 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
2 70164580 rs113584133 C CAGGG 430.55 PASS AC=2;AF=1.00;AN=2;DB;DP=6;FS=0.0;HRun=0;HaplotypeScore=21.6731;IndelType=I;MQ=53.82;MQ0=0;QD=71.76;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MXD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264444 GT:AD:DP:GQ:PL 1/1:0,5:6:18.06:472,18,0
2 70188676 rs3796097 T C 1492.88 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.685;DB;DP=44;Dels=0.0;FS=6.69;HRun=0;HaplotypeScore=0.0;MQ=59.48;MQ0=0;MQRankSum=-1.249;QD=33.93;ReadPosRankSum=0.846;SNPEFF_AMINO_ACID_CHANGE=T49A;SNPEFF_CODON_CHANGE=Act/Gct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_70187226_70189397;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASPRV1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000320256 GT:AD:DP:GQ:PL 1/1:1,43:44:85.56:1526,86,0
2 70454794 rs2592181 G C 277.36 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=3.22;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.716;QD=11.56;ReadPosRankSum=1.67;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TIA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481650 GT:AD:DP:GQ:PL 0/1:15,9:24:99:307,0,501
2 70456586 rs2706768 C T 67.18 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=0.741;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.69;MQ0=0;MQRankSum=1.447;QD=6.72;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TIA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282574 GT:AD:DP:GQ:PL 0/1:6,4:10:97.17:97,0,151
2 70515067 rs34979618 G GTT 387.52 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.239;DB;DP=12;FS=0.0;HRun=1;HaplotypeScore=34.9965;IndelType=I;MQ=58.11;MQ0=0;MQRankSum=0.825;QD=32.29;ReadPosRankSum=-0.6;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SNRPG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272348 GT:AD:DP:GQ:PL 0/1:4,8:12:99:427,0,160
2 70524577 rs2618235 G A 941.50 PASS AB=0.536;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.361;DB;DP=69;Dels=0.0;FS=1.122;HRun=0;HaplotypeScore=3.916;MQ=54.48;MQ0=2;MQRankSum=0.847;QD=13.64;ReadPosRankSum=0.374;SNPEFF_AMINO_ACID_CHANGE=N157;SNPEFF_CODON_CHANGE=aaC/aaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_70524558_70524609;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM136A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000438759 GT:AD:DP:GQ:PL 0/1:37,32:69:99:971,0,999
2 70676769 rs148504120 GA G 295.11 PASS AB=0.719;AC=1;AF=0.50;AN=2;BaseQRankSum=3.162;DB;DP=41;FS=3.73;HRun=9;HaplotypeScore=108.885;IndelType=D;MQ=60.0;MQ0=0;MQRankSum=0.745;QD=7.2;ReadPosRankSum=1.772;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TGFA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418333 GT:AD:DP:GQ:PL 0/1:25,16:41:99:334,0,550
2 70677994 rs2166975 G A 103.18 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.159;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.361;QD=11.46;ReadPosRankSum=-1.881;SNPEFF_AMINO_ACID_CHANGE=V159;SNPEFF_CODON_CHANGE=gtC/gtT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_70677305_70677998;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TGFA;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000418333 GT:AD:DP:GQ:PL 0/1:5,4:9:99:133,0,185
2 70679067 rs3771522 G A 37.29 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=9.32;ReadPosRankSum=-1.026;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TGFA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000394241 GT:AD:DP:GQ:PL 0/1:2,2:4:67.28:67,0,71
2 71004413 rs55926232 C CA 103.25 PASS AB=0.677;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.209;DB;DP=21;FS=0.0;HRun=16;HaplotypeScore=127.7711;IndelType=I;MQ=55.42;MQ0=0;MQRankSum=-0.15;QD=4.92;ReadPosRankSum=-2.431;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FIGLA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000332372 GT:AD:DP:GQ:PL 0/1:7,8:21:19.95:142,0,20
2 71004492 rs56316086 T C 281.91 PASS AB=0.459;AC=1;AF=0.50;AN=2;BaseQRankSum=0.602;DB;DP=37;Dels=0.0;FS=1.258;HRun=1;HaplotypeScore=0.8321;MQ=56.54;MQ0=0;MQRankSum=0.158;QD=7.62;ReadPosRankSum=-0.665;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FIGLA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000332372 GT:AD:DP:GQ:PL 0/1:17,20:37:99:312,0,480
2 71004494 rs56135050 A T 285.37 PASS AB=0.441;AC=1;AF=0.50;AN=2;BaseQRankSum=2.497;DB;DP=34;Dels=0.0;FS=1.377;HRun=5;HaplotypeScore=0.8321;MQ=56.22;MQ0=0;MQRankSum=-0.277;QD=8.39;ReadPosRankSum=-1.387;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FIGLA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000332372 GT:AD:DP:GQ:PL 0/1:15,19:34:99:315,0,435
2 71012604 rs7566541 G A 3423.64 PASS AB=0.507;AC=1;AF=0.50;AN=2;BaseQRankSum=6.373;DB;DP=229;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.748;MQ=59.19;MQ0=0;MQRankSum=0.88;QD=14.95;ReadPosRankSum=-0.269;SNPEFF_AMINO_ACID_CHANGE=H184;SNPEFF_CODON_CHANGE=caC/caT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_71012547_71012771;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FIGLA;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000332372 GT:AD:DP:GQ:PL 0/1:115,112:229:99:3424,0,3238
2 71012713 . G A 3184.26 PASS AB=0.535;AC=1;AF=0.50;AN=2;BaseQRankSum=2.079;DP=228;DS;Dels=0.0;FS=3.028;HRun=1;HaplotypeScore=2.6807;MQ=59.21;MQ0=0;MQRankSum=0.223;QD=13.97;ReadPosRankSum=0.653;SNPEFF_AMINO_ACID_CHANGE=S148L;SNPEFF_CODON_CHANGE=tCg/tTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_71012547_71012771;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FIGLA;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000332372 GT:AD:DP:GQ:PL 0/1:122,106:228:99:3214,0,3644
2 71012734 rs7566476 C G 3036.82 PASS AB=0.512;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.872;DB;DP=215;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=4.8943;MQ=59.46;MQ0=0;MQRankSum=1.413;QD=14.12;ReadPosRankSum=-0.671;SNPEFF_AMINO_ACID_CHANGE=S141T;SNPEFF_CODON_CHANGE=aGt/aCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_71012547_71012771;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FIGLA;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000332372 GT:AD:DP:GQ:PL 0/1:110,105:215:99:3067,0,3332
2 71012946 rs7566700 C A 195.15 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.421;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9789;MQ=58.33;MQ0=0;MQRankSum=0.299;QD=13.94;ReadPosRankSum=0.068;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FIGLA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000332372 GT:AD:DP:GQ:PL 0/1:7,7:14:99:225,0,202
2 71036189 rs149426278 CA C 700.70 PASS AB=0.65;AC=1;AF=0.50;AN=2;BaseQRankSum=4.747;DB;DP=39;FS=4.92;HRun=1;HaplotypeScore=94.9026;IndelType=D;MQ=60.83;MQ0=0;MQRankSum=1.197;QD=17.97;ReadPosRankSum=-0.662;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLEC4F;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272367 GT:AD:DP:GQ:PL 0/1:18,21:39:99:740,0,747
2 71036758 rs72315125 TCA T 320.05 PASS AB=0.645;AC=1;AF=0.50;AN=2;BaseQRankSum=2.626;DB;DP=20;FS=0.0;HRun=0;HaplotypeScore=64.7858;IndelType=D;MQ=61.31;MQ0=0;MQRankSum=0.815;QD=16.0;ReadPosRankSum=-2.083;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLEC4F;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272367 GT:AD:DP:GQ:PL 0/1:9,11:20:99:359,0,306
2 71058184 rs13421115 C T 1697.38 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.11;SNPEFF_AMINO_ACID_CHANGE=P328;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_71057347_71058331;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD207;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000410009 GT:AD:DP:GQ:PL 1/1:0,47:47:99:1730,126,0
2 71060936 rs17718987 G C 4098.63 PASS AC=2;AF=1.00;AN=2;DB;DP=110;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7356;MQ=59.37;MQ0=0;QD=37.26;SNPEFF_AMINO_ACID_CHANGE=Q136E;SNPEFF_CODON_CHANGE=Cag/Gag;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_71060777_71061151;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD207;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000410009 GT:AD:DP:GQ:PL 1/1:0,110:110:99:4099,301,0
2 71062648 rs10489990 G A 1576.97 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.33;SNPEFF_AMINO_ACID_CHANGE=A55V;SNPEFF_CODON_CHANGE=gCc/gTc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_71062622_71062738;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD207;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000410009 GT:AD:DP:GQ:PL 1/1:0,52:52:99:1610,120,0
2 71062833 rs72540731 G GC 1071.06 PASS AC=2;AF=1.00;AN=2;DB;DP=26;FS=0.0;HRun=1;HaplotypeScore=50.4017;IndelType=I;MQ=60.42;MQ0=0;QD=41.19;SNPEFF_EFFECT=FRAME_SHIFT;SNPEFF_EXON_ID=exon_2_71062834_71062952;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD207;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000410009 GT:AD:DP:GQ:PL 1/1:1,25:26:75.25:1113,75,0
2 71162996 rs11685700 A G 97.01 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.38;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.635;QD=8.08;ReadPosRankSum=0.831;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VAX2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234392 GT:AD:DP:GQ:PL 0/1:7,5:12:99:127,0,206
2 71163086 rs11681642 T C 240.32 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.525;DB;DP=22;Dels=0.0;FS=4.419;HRun=0;HaplotypeScore=0.0;MQ=56.99;MQ0=0;MQRankSum=0.722;QD=10.92;ReadPosRankSum=2.233;SNPEFF_AMINO_ACID_CHANGE=M1T;SNPEFF_CODON_CHANGE=aTg/aCg;SNPEFF_EFFECT=START_LOST;SNPEFF_EXON_ID=exon_2_71163012_71163202;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP6V1B1;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000234396 GT:AD:DP:GQ:PL 0/1:11,11:22:99:270,0,341
2 71163225 rs759219 C T 220.16 PASS AB=0.63;AC=1;AF=0.50;AN=2;BaseQRankSum=2.234;DB;DP=27;Dels=0.0;FS=1.655;HRun=0;HaplotypeScore=0.0;MQ=58.27;MQ0=0;MQRankSum=-1.029;QD=8.15;ReadPosRankSum=-0.176;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VAX2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234392 GT:AD:DP:GQ:PL 0/1:17,10:27:99:250,0,384
2 71206058 rs1115050 A C 251.57 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.289;DB;DP=12;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.134;QD=20.96;ReadPosRankSum=-0.289;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD53;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272421 GT:AD:DP:GQ:PL 0/1:4,8:12:81.94:282,0,82
2 71211417 rs72832792 C G 174.61 PASS AB=0.759;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.743;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=58.39;MQ0=0;MQRankSum=-0.478;QD=6.02;ReadPosRankSum=0.212;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD53;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460927 GT:AD:DP:GQ:PL 0/1:22,7:29:99:205,0,694
2 71211815 rs3796098 G A 920.23 PASS AB=0.531;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.032;DB;DP=64;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=59.28;MQ0=0;MQRankSum=1.072;QD=14.38;ReadPosRankSum=-1.03;SNPEFF_AMINO_ACID_CHANGE=L292;SNPEFF_CODON_CHANGE=ctG/ctA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_71211741_71212471;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD53;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000457410 GT:AD:DP:GQ:PL 0/1:34,30:64:99:950,0,1072
2 71211989 rs3796099 A G 242.30 PASS AB=0.657;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.387;DB;DP=35;Dels=0.0;FS=1.475;HRun=0;HaplotypeScore=0.0;MQ=59.34;MQ0=0;MQRankSum=0.095;QD=6.92;ReadPosRankSum=0.286;SNPEFF_AMINO_ACID_CHANGE=T350;SNPEFF_CODON_CHANGE=acA/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_71211741_71212471;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD53;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000457410 GT:AD:DP:GQ:PL 0/1:23,12:35:99:272,0,684
2 71215617 rs4852735 A G 101.64 PASS AB=0.65;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.932;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.84;MQ0=0;MQRankSum=1.03;QD=5.08;ReadPosRankSum=-0.475;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD53;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272421 GT:AD:DP:GQ:PL 0/1:13,7:20:99:132,0,473
2 71216246 rs2286980 A C 107.64 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=56.82;MQ0=0;MQRankSum=0.72;QD=17.94;ReadPosRankSum=-1.38;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD53;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272421 GT:AD:DP:GQ:PL 0/1:2,4:6:56.02:138,0,56
2 71220793 rs2276684 T G 1406.74 PASS AB=0.55;AC=1;AF=0.50;AN=2;BaseQRankSum=3.402;DB;DP=111;Dels=0.0;FS=8.312;HRun=1;HaplotypeScore=2.1445;MQ=59.79;MQ0=0;MQRankSum=1.225;QD=12.67;ReadPosRankSum=1.146;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TEX261;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272438 GT:AD:DP:GQ:PL 0/1:61,50:111:99:1437,0,1630
2 71221822 rs2302561 A G 92.90 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.896;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.04;MQ0=0;MQRankSum=1.034;QD=7.74;ReadPosRankSum=-0.278;SNPEFF_AMINO_ACID_CHANGE=A22;SNPEFF_CODON_CHANGE=gcT/gcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_71221818_71222075;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TEX261;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000272438 GT:AD:DP:GQ:PL 0/1:8,4:12:99:123,0,200
2 71256424 rs400832 T C 1689.58 PASS AB=0.569;AC=1;AF=0.50;AN=2;BaseQRankSum=1.815;DB;DP=160;Dels=0.0;FS=1.281;HRun=0;HaplotypeScore=1.9454;MQ=53.44;MQ0=3;MQRankSum=-6.584;QD=10.56;ReadPosRankSum=0.482;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC007040.10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000400027 GT:AD:DP:GQ:PL 0/1:91,69:160:99:1720,0,3009
2 71264791 rs6718347 T C 152.88 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=0.386;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.6229;MQ=48.97;MQ0=0;MQRankSum=-2.007;QD=10.92;ReadPosRankSum=0.0;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC007040.8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000434990 GT:AD:DP:GQ:PL 0/1:6,8:14:99:183,0,166
2 71264795 rs6718350 T G 176.90 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.12;DB;DP=15;Dels=0.0;FS=3.358;HRun=0;HaplotypeScore=1.6229;MQ=49.55;MQ0=0;MQRankSum=-2.062;QD=11.79;ReadPosRankSum=0.295;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC007040.8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000434990 GT:AD:DP:GQ:PL 0/1:6,9:15:99:207,0,175
2 71264949 rs6718523 T C 1151.99 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=3.486;DB;DP=77;Dels=0.0;FS=8.069;HRun=0;HaplotypeScore=1.7608;MQ=50.95;MQ0=1;MQRankSum=-1.598;QD=14.96;ReadPosRankSum=-0.998;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC007040.8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000434990 GT:AD:DP:GQ:PL 0/1:33,44:77:99:1182,0,992
2 71265187 rs9309445 G T 2322.50 PASS AB=0.483;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.355;DB;DP=147;Dels=0.0;FS=1.298;HRun=0;HaplotypeScore=2.598;MQ=57.92;MQ0=0;MQRankSum=1.188;QD=15.8;ReadPosRankSum=-1.289;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC007040.8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000434990 GT:AD:DP:GQ:PL 0/1:71,76:147:99:2352,0,2175
2 71265308 rs71400975 C CTT 657.70 PASS AB=0.722;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.767;DB;DP=57;FS=6.273;HRun=12;HaplotypeScore=271.5208;IndelType=I;MQ=55.84;MQ0=0;MQRankSum=-1.278;QD=11.54;ReadPosRankSum=-0.402;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC007040.8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000434990 GT:AD:DP:GQ:PL 0/1:35,19:57:99:697,0,428
2 71282582 rs115758708 G A 1550.12 PASS AB=0.509;AC=1;AF=0.50;AN=2;BaseQRankSum=3.298;DB;DP=108;Dels=0.0;FS=1.595;HRun=0;HaplotypeScore=1.7234;MQ=59.18;MQ0=0;MQRankSum=-0.436;QD=14.35;ReadPosRankSum=-1.674;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC007040.8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000434990 GT:AD:DP:GQ:PL 0/1:55,53:108:99:1580,0,1465
2 71282604 rs111523839 A G 1388.94 PASS AB=0.519;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.319;DB;DP=108;Dels=0.0;FS=1.603;HRun=0;HaplotypeScore=0.0;MQ=59.18;MQ0=0;MQRankSum=1.303;QD=12.86;ReadPosRankSum=-3.901;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC007040.8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000434990 GT:AD:DP:GQ:PL 0/1:56,52:108:99:1419,0,1818
2 71282633 rs4852757 C T 1305.50 PASS AB=0.57;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.509;DB;DP=108;Dels=0.0;FS=6.317;HRun=0;HaplotypeScore=0.6651;MQ=59.18;MQ0=0;MQRankSum=-1.112;QD=12.09;ReadPosRankSum=0.531;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC007040.8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000434990 GT:AD:DP:GQ:PL 0/1:61,46:108:99:1335,0,1836
2 71282696 rs1833352 G A 2080.90 PASS AB=0.42;AC=1;AF=0.50;AN=2;BaseQRankSum=2.631;DB;DP=119;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9312;MQ=59.22;MQ0=0;MQRankSum=-1.232;QD=17.49;ReadPosRankSum=0.06;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC007040.8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000434990 GT:AD:DP:GQ:PL 0/1:50,69:119:99:2111,0,1429
2 71282940 rs11885237 G A 1426.40 PASS AB=0.48;AC=1;AF=0.50;AN=2;BaseQRankSum=3.051;DB;DP=98;Dels=0.0;FS=3.776;HRun=0;HaplotypeScore=0.0;MQ=57.87;MQ0=0;MQRankSum=-0.028;QD=14.56;ReadPosRankSum=-1.813;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC007040.8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000434990 GT:AD:DP:GQ:PL 0/1:47,51:98:99:1456,0,1504
2 71283122 rs35074164 C CT 334.89 PASS AB=0.829;AC=1;AF=0.50;AN=2;BaseQRankSum=3.613;DB;DP=62;FS=16.932;HRun=0;HaplotypeScore=203.4409;IndelType=I;MQ=54.95;MQ0=0;MQRankSum=-4.426;QD=5.32;ReadPosRankSum=0.989;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC007040.8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000434990 GT:AD:DP:GQ:PL 0/1:50,13:62:99:374,0,1804
2 71283128 rs34797997 G A 227.96 PASS AB=0.769;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.442;DB;DP=65;Dels=0.0;FS=12.593;HRun=1;HaplotypeScore=0.9789;MQ=54.46;MQ0=0;MQRankSum=-5.024;QD=3.51;ReadPosRankSum=-0.158;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC007040.8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000434990 GT:AD:DP:GQ:PL 0/1:50,15:65:99:258,0,1560
2 71297982 rs2287327 C T 327.76 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=0.922;DB;DP=16;Dels=0.0;FS=2.858;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.38;QD=20.48;ReadPosRankSum=1.681;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NAGK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000497690 GT:AD:DP:GQ:PL 0/1:6,10:16:99:358,0,146
2 71300516 rs17616553 T C 1441.12 PASS AB=0.505;AC=1;AF=0.50;AN=2;BaseQRankSum=2.589;DB;DP=93;Dels=0.0;FS=3.058;HRun=0;HaplotypeScore=0.734;MQ=59.25;MQ0=0;MQRankSum=-0.269;QD=15.5;ReadPosRankSum=0.004;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NAGK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000428360 GT:AD:DP:GQ:PL 0/1:47,46:93:99:1471,0,1581
2 71305267 rs10187472 T C 51.64 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.82;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NAGK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000455197 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:83,6,0
2 71305456 rs6713 C T 577.01 PASS AB=0.51;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.556;DB;DP=51;Dels=0.0;FS=2.539;HRun=2;HaplotypeScore=0.0;MQ=56.24;MQ0=0;MQRankSum=0.782;QD=11.31;ReadPosRankSum=-0.104;SNPEFF_AMINO_ACID_CHANGE=L234;SNPEFF_CODON_CHANGE=Ctg/Ttg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_71305448_71306935;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NAGK;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000418807 GT:AD:DP:GQ:PL 0/1:26,25:51:99:607,0,836
2 71351403 rs6748672 C A 611.13 PASS AB=0.588;AC=1;AF=0.50;AN=2;BaseQRankSum=2.478;DB;DP=51;Dels=0.0;FS=10.41;HRun=1;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=0.124;QD=11.98;ReadPosRankSum=0.775;SNPEFF_AMINO_ACID_CHANGE=R104L;SNPEFF_CODON_CHANGE=cGt/cTt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_71351336_71351673;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MCEE;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000244217 GT:AD:DP:GQ:PL 0/1:30,21:51:99:641,0,958
2 71351779 rs58684004 T C 95.63 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.55;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=61.53;MQ0=0;MQRankSum=-0.937;QD=13.66;ReadPosRankSum=0.937;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MCEE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000244217 GT:AD:DP:GQ:PL 0/1:3,4:7:99:126,0,103
2 71357417 rs2012479 C A 270.05 PASS AB=0.182;AC=1;AF=0.50;AN=2;BaseQRankSum=1.532;DB;DP=11;Dels=0.0;FS=6.99;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.589;QD=24.55;ReadPosRankSum=1.532;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MCEE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000244217 GT:AD:DP:GQ:PL 0/1:2,9:11:36.63:300,0,37
2 71357634 rs1813348 C T 50.63 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.32;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MCEE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000244217 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
2 71357710 rs981947 G C 52.75 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.37;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MCEE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000244217 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
2 71360144 rs10199088 A C 449.15 PASS AB=0.558;AC=1;AF=0.50;AN=2;BaseQRankSum=0.33;DB;DP=43;Dels=0.0;FS=2.816;HRun=0;HaplotypeScore=1.7675;MQ=59.46;MQ0=0;MQRankSum=0.624;QD=10.45;ReadPosRankSum=-0.159;SNPEFF_AMINO_ACID_CHANGE=E69A;SNPEFF_CODON_CHANGE=gAa/gCa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_71360028_71360706;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MPHOSPH10;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000244230 GT:AD:DP:GQ:PL 0/1:24,19:43:99:479,0,835
2 71360282 rs13010513 G A 705.70 PASS AB=0.267;AC=1;AF=0.50;AN=2;BaseQRankSum=1.946;DB;DP=30;Dels=0.0;FS=1.661;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=-0.68;QD=23.52;ReadPosRankSum=0.07;SNPEFF_AMINO_ACID_CHANGE=R115H;SNPEFF_CODON_CHANGE=cGt/cAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_71360028_71360706;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MPHOSPH10;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000244230 GT:AD:DP:GQ:PL 0/1:8,22:30:99:736,0,206
2 71360625 rs1813160 G T 579.88 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.583;DB;DP=73;Dels=0.0;FS=8.581;HRun=0;HaplotypeScore=3.2854;MQ=57.16;MQ0=0;MQRankSum=-0.962;QD=7.94;ReadPosRankSum=-0.759;SNPEFF_AMINO_ACID_CHANGE=E229D;SNPEFF_CODON_CHANGE=gaG/gaT;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_71360028_71360706;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MPHOSPH10;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000244230 GT:AD:DP:GQ:PL 0/1:48,24:73:99:610,0,1497
2 71360723 rs1813159 A G 1244.39 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.8991;MQ=51.33;MQ0=0;QD=24.4;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MPHOSPH10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468427 GT:AD:DP:GQ:PL 1/1:0,51:51:99:1277,102,0
2 71360735 rs138875226 T TTCC 2343.31 PASS AC=2;AF=1.00;AN=2;DB;DP=44;FS=0.0;HRun=0;HaplotypeScore=286.2038;IndelType=I;MQ=50.32;MQ0=0;QD=53.26;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MPHOSPH10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468427 GT:AD:DP:GQ:PL 1/1:6,38:44:99:2385,111,0
2 71361332 rs9941620 T G 121.06 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.38;QD=20.18;ReadPosRankSum=-1.38;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MPHOSPH10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468427 GT:AD:DP:GQ:PL 0/1:2,4:6:63.82:151,0,64
2 71362046 rs12995262 T A 111.87 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.38;QD=18.64;ReadPosRankSum=-1.38;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MPHOSPH10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468427 GT:AD:DP:GQ:PL 0/1:2,4:6:64.40:142,0,64
2 71365676 rs357756 G A 631.48 PASS AB=0.3;AC=1;AF=0.50;AN=2;BaseQRankSum=1.222;DB;DP=30;Dels=0.0;FS=6.237;HRun=1;HaplotypeScore=0.8321;MQ=58.75;MQ0=0;MQRankSum=-1.358;QD=21.05;ReadPosRankSum=-0.317;SNPEFF_AMINO_ACID_CHANGE=Q245;SNPEFF_CODON_CHANGE=caG/caA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_71365620_71365761;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MPHOSPH10;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000425650 GT:AD:DP:GQ:PL 0/1:9,21:30:99:661,0,268
2 71366876 rs357754 A G 689.77 PASS AB=0.646;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.255;DB;DP=65;Dels=0.0;FS=3.913;HRun=0;HaplotypeScore=0.0;MQ=59.65;MQ0=0;MQRankSum=0.857;QD=10.61;ReadPosRankSum=1.091;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MPHOSPH10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000498451 GT:AD:DP:GQ:PL 0/1:42,23:65:99:720,0,1421
2 71368519 . C A 38.01 FSFilter60;QDFilter2 AB=0.398;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.243;DP=123;Dels=0.0;FS=110.672;HRun=2;HaplotypeScore=8.8182;MQ=44.7;MQ0=0;MQRankSum=-3.774;QD=0.31;ReadPosRankSum=2.426;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MPHOSPH10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000498451 GT:AD:DP:GQ:PL 0/1:49,74:123:68:68,0,1532
2 71375065 rs63388060 A C 835.14 PASS AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=1.734;DB;DP=57;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=-0.232;QD=14.65;ReadPosRankSum=0.551;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MPHOSPH10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000244230 GT:AD:DP:GQ:PL 0/1:30,27:57:99:865,0,1022
2 71376999 rs6574 G A 1089.90 PASS AB=0.494;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.499;DB;DP=81;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.223;QD=13.46;ReadPosRankSum=-0.099;SNPEFF_AMINO_ACID_CHANGE=E494K;SNPEFF_CODON_CHANGE=Gaa/Aaa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_71376996_71377230;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MPHOSPH10;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000425650 GT:AD:DP:GQ:PL 0/1:40,41:81:99:1120,0,1265
2 71405578 rs383445 G A 170.33 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.07;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PAIP2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000244221 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:203,15,0
2 71415479 rs357780 T C 174.95 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.16;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PAIP2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000244221 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:208,15,0
2 71417065 rs357777 G T 2554.09 PASS AC=2;AF=1.00;AN=2;DB;DP=78;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=59.7;MQ0=0;QD=32.74;SNPEFF_AMINO_ACID_CHANGE=P75;SNPEFF_CODON_CHANGE=ccC/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_71416975_71417151;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PAIP2B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000244221 GT:AD:DP:GQ:PL 1/1:0,78:78:99:2587,196,0
2 71429687 rs13001756 C G 2567.78 PASS AB=0.45;AC=1;AF=0.50;AN=2;BaseQRankSum=5.667;DB;DP=151;Dels=0.0;FS=3.422;HRun=2;HaplotypeScore=1.8583;MQ=60.0;MQ0=0;MQRankSum=-0.987;QD=17.01;ReadPosRankSum=0.699;SNPEFF_AMINO_ACID_CHANGE=P11;SNPEFF_CODON_CHANGE=ccG/ccC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_71429582_71429730;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PAIP2B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000244221 GT:AD:DP:GQ:PL 0/1:68,83:151:99:2598,0,1941
2 71429891 rs357761 C T 126.64 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.66;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PAIP2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000244221 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:159,12,0
2 71590964 rs4852255 C G 158.28 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.951;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.521;QD=10.55;ReadPosRankSum=-1.678;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ZNF638;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264447 GT:AD:DP:GQ:PL 0/1:8,7:15:99:188,0,298
2 71607539 rs17693408 G A 590.59 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.783;DB;DP=30;Dels=0.0;FS=10.772;HRun=1;HaplotypeScore=0.0;MQ=59.23;MQ0=0;MQRankSum=-1.122;QD=19.69;ReadPosRankSum=-1.799;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ZNF638;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264447 GT:AD:DP:GQ:PL 0/1:12,18:30:99:621,0,407
2 71615390 rs111496976 T G 786.18 PASS AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=3.492;DB;DP=57;Dels=0.0;FS=2.132;HRun=1;HaplotypeScore=0.8941;MQ=59.6;MQ0=0;MQRankSum=-0.024;QD=13.79;ReadPosRankSum=-1.414;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ZNF638;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264447 GT:AD:DP:GQ:PL 0/1:30,27:57:99:816,0,833
2 71615571 rs2542529 C T 3836.01 PASS AC=2;AF=1.00;AN=2;DB;DP=126;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.0234;MQ=59.45;MQ0=0;QD=30.44;SNPEFF_AMINO_ACID_CHANGE=N802;SNPEFF_CODON_CHANGE=aaC/aaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_71615543_71615610;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ZNF638;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000377802 GT:AD:DP:GQ:PL 1/1:1,123:126:99:3836,292,0
2 71620818 rs6741436 C T 1980.61 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.7887;MQ=59.66;MQ0=0;QD=29.56;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ZNF638;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264447 GT:AD:DP:GQ:PL 1/1:0,67:67:99:2014,160,0
2 71622610 rs111582481 C T 141.57 PASS AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=6;Dels=0.0;FS=7.782;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=23.59;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ZNF638;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264447 GT:AD:DP:GQ:PL 0/1:1,5:6:23.18:172,0,23
2 71627217 rs144513841 T C 617.75 PASS AB=0.387;AC=1;AF=0.50;AN=2;BaseQRankSum=2.007;DB;DP=31;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.075;QD=19.93;ReadPosRankSum=1.764;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ZNF638;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000410075 GT:AD:DP:GQ:PL 0/1:12,19:31:99:648,0,407
2 71627539 rs3771371 C T 541.39 PASS AB=0.406;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.652;DB;DP=32;Dels=0.0;FS=2.013;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.614;QD=16.92;ReadPosRankSum=-1.266;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ZNF638;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000410075 GT:AD:DP:GQ:PL 0/1:13,19:32:99:571,0,419
2 71627860 rs10210436 G T 53.22 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.61;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ZNF638;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491843 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
2 71631345 rs4852256 A T 135.76 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=1.097;DB;DP=14;Dels=0.0;FS=3.68;HRun=1;HaplotypeScore=0.0;MQ=58.33;MQ0=0;MQRankSum=-1.356;QD=9.7;ReadPosRankSum=1.226;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ZNF638;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264447 GT:AD:DP:GQ:PL 0/1:8,6:14:99:166,0,283
2 71633275 rs3732233 T C 620.31 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.96;DB;DP=46;Dels=0.0;FS=4.387;HRun=0;HaplotypeScore=0.9578;MQ=59.59;MQ0=0;MQRankSum=-0.2;QD=13.48;ReadPosRankSum=1.936;SNPEFF_AMINO_ACID_CHANGE=I1006;SNPEFF_CODON_CHANGE=atT/atC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_71633258_71633392;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ZNF638;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000264447 GT:AD:DP:GQ:PL 0/1:23,23:46:99:650,0,717
2 71633389 rs6714975 C T 459.19 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.56;DB;DP=40;Dels=0.0;FS=8.303;HRun=0;HaplotypeScore=0.0;MQ=59.06;MQ0=0;MQRankSum=-0.428;QD=11.48;ReadPosRankSum=-0.207;SNPEFF_AMINO_ACID_CHANGE=N1044;SNPEFF_CODON_CHANGE=aaC/aaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_71633258_71633392;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ZNF638;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000264447 GT:AD:DP:GQ:PL 0/1:24,16:40:99:489,0,807
2 71635931 rs12466025 G T 1054.85 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ZNF638;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264447 GT:AD:DP:GQ:PL 1/1:1,35:36:81.27:1088,81,0
2 71636036 rs12474072 A G 75.67 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.406;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=12.61;ReadPosRankSum=-1.537;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ZNF638;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264447 GT:AD:DP:GQ:PL 0/1:3,3:6:99:106,0,105
2 71645628 rs112652828 G GTT 345.48 PASS AB=0.761;AC=1;AF=0.50;AN=2;BaseQRankSum=0.276;DB;DP=35;FS=0.0;HRun=11;HaplotypeScore=180.2108;IndelType=I;MQ=58.0;MQ0=0;MQRankSum=-0.092;QD=9.87;ReadPosRankSum=0.792;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ZNF638;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264447 GT:AD:DP:GQ:PL 0/1:23,7:35:99:385,0,465
2 71645828 rs4852783 G A 797.44 PASS AB=0.46;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.277;DB;DP=50;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.2;MQ0=0;MQRankSum=2.122;QD=15.95;ReadPosRankSum=0.506;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ZNF638;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264447 GT:AD:DP:GQ:PL 0/1:23,27:50:99:827,0,563
2 71645854 rs71402979 TGTA T 444.62 PASS AB=0.711;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.246;DB;DP=27;FS=0.0;HRun=0;HaplotypeScore=207.7853;IndelType=D;MQ=53.71;MQ0=0;MQRankSum=-1.505;QD=16.47;ReadPosRankSum=0.571;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ZNF638;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264447 GT:AD:DP:GQ:PL 0/1:16,11:27:99:484,0,926
2 71645890 rs4852784 G C 565.64 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.05;MQ0=0;QD=35.35;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ZNF638;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264447 GT:AD:DP:GQ:PL 1/1:0,16:16:48.13:599,48,0
2 71645946 rs4438512 G A 136.59 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.922;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=0.198;QD=19.51;ReadPosRankSum=-0.922;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ZNF638;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264447 GT:AD:DP:GQ:PL 0/1:2,5:7:62.24:167,0,62
2 71651597 rs7593986 C G 40.96 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=13.65;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ZNF638;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264447 GT:AD:DP:GQ:PL 0/1:1,2:3:33.20:71,0,33
2 71651939 rs12613800 T A 287.18 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=1.457;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.32;QD=13.68;ReadPosRankSum=0.675;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ZNF638;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264447 GT:AD:DP:GQ:PL 0/1:12,9:21:99:317,0,433
2 71661855 rs35526551 C CA 720.31 PASS AB=0.672;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.508;DB;DP=43;FS=2.963;HRun=3;HaplotypeScore=106.9801;IndelType=I;MQ=58.58;MQ0=0;MQRankSum=-0.535;QD=16.75;ReadPosRankSum=-1.395;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ZNF638;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460310 GT:AD:DP:GQ:PL 0/1:22,21:43:99:759,0,597
2 71693943 rs61333801 G A 65.11 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=5;Dels=0.0;FS=6.021;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=13.02;ReadPosRankSum=-0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DYSF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258104 GT:AD:DP:GQ:PL 0/1:1,4:5:24.94:95,0,25
2 71742736 rs61104194 C T 925.90 PASS AB=0.36;AC=1;AF=0.50;AN=2;BaseQRankSum=1.708;DB;DP=50;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.576;QD=18.52;ReadPosRankSum=-0.596;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DYSF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258104 GT:AD:DP:GQ:PL 0/1:18,32:50:99:956,0,484
2 71747235 rs11675897 A G 1662.32 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.48;MQ0=0;QD=31.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DYSF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258104 GT:AD:DP:GQ:PL 1/1:0,53:53:99:1695,141,0
2 71747432 rs75190231 G T 554.06 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.7;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DYSF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258104 GT:AD:DP:GQ:PL 1/1:0,20:20:54.13:587,54,0
2 71747568 rs12997658 G T 93.19 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.06;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DYSF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258104 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:125,9,0
2 71747723 rs12713754 C G 110.78 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.46;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DYSF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258104 GT:AD:DP:GQ:PL 1/1:0,6:6:12.02:143,12,0
2 71747851 rs12713755 T C 1889.10 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9832;MQ=59.53;MQ0=0;QD=38.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DYSF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258104 GT:AD:DP:GQ:PL 1/1:0,49:49:99:1922,141,0
2 71747899 rs12713756 G A 973.62 PASS AB=0.553;AC=1;AF=0.50;AN=2;BaseQRankSum=1.282;DB;DP=76;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.2434;MQ=60.0;MQ0=0;MQRankSum=1.165;QD=12.81;ReadPosRankSum=3.028;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DYSF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258104 GT:AD:DP:GQ:PL 0/1:42,34:76:99:1004,0,1221
2 71753487 rs35982795 C T 543.35 PASS AB=0.524;AC=1;AF=0.50;AN=2;BaseQRankSum=3.124;DB;DP=42;Dels=0.0;FS=3.468;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.19;QD=12.94;ReadPosRankSum=-0.98;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DYSF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258104 GT:AD:DP:GQ:PL 0/1:22,20:42:99:573,0,620
2 71755380 rs4852800 A G 420.29 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.33;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DYSF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258104 GT:AD:DP:GQ:PL 1/1:0,13:13:33.11:453,33,0
2 71762232 rs4852801 C T 543.45 PASS AB=0.632;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.434;DB;DP=68;Dels=0.0;FS=2.337;HRun=0;HaplotypeScore=0.0;MQ=59.66;MQ0=0;MQRankSum=-0.394;QD=7.99;ReadPosRankSum=-0.293;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DYSF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258104 GT:AD:DP:GQ:PL 0/1:43,25:68:99:573,0,1419
2 71762310 rs4852802 A G 388.95 PASS AB=0.605;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.284;DB;DP=38;Dels=0.0;FS=1.323;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.06;QD=10.24;ReadPosRankSum=0.567;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DYSF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258104 GT:AD:DP:GQ:PL 0/1:23,15:38:99:419,0,834
2 71766124 rs79617374 G T 48.08 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.04;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DYSF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258104 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
2 71766487 rs7609409 G A 36.65 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=51.77;MQ0=0;MQRankSum=-0.736;QD=12.22;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DYSF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258104 GT:AD:DP:GQ:PL 0/1:1,2:3:33.62:67,0,34
2 71776345 rs736096 C T 41.34 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.731;QD=8.27;ReadPosRankSum=-0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DYSF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258104 GT:AD:DP:GQ:PL 0/1:1,4:5:30.65:71,0,31
2 71776346 rs934061 A G 68.20 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=13.64;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DYSF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258104 GT:AD:DP:GQ:PL 1/1:0,5:5:11.98:101,12,0
2 71776544 rs188222201 A G 49.01 PASS AB=0.765;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.057;DB;DP=17;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=-0.17;QD=2.88;ReadPosRankSum=1.415;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DYSF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258104 GT:AD:DP:GQ:PL 0/1:13,4:17:79:79,0,409
2 71780215 rs2303596 T C 1452.53 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=59.53;MQ0=0;QD=29.64;SNPEFF_AMINO_ACID_CHANGE=D596;SNPEFF_CODON_CHANGE=gaT/gaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_71780141_71780318;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DYSF;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000409744 GT:AD:DP:GQ:PL 1/1:0,48:49:99:1486,117,0
2 71781161 rs74340297 GAC G 204.06 PASS AB=0.708;AC=1;AF=0.50;AN=2;BaseQRankSum=3.367;DB;DP=17;FS=0.0;HRun=0;HaplotypeScore=52.143;IndelType=D;MQ=59.28;MQ0=0;MQRankSum=-0.049;QD=12.0;ReadPosRankSum=-1.025;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DYSF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258104 GT:AD:DP:GQ:PL 0/1:10,7:17:99:243,0,489
2 71796865 rs10205023 C G 695.31 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.7887;MQ=58.84;MQ0=0;QD=34.77;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DYSF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258104 GT:AD:DP:GQ:PL 1/1:0,19:20:54.17:728,54,0
2 71797712 rs3764971 G A 236.45 PASS AB=0.222;AC=1;AF=0.50;AN=2;BaseQRankSum=1.666;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.067;QD=26.27;ReadPosRankSum=-1.179;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DYSF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258104 GT:AD:DP:GQ:PL 0/1:2,7:9:20.62:266,0,21
2 71801267 rs57041989 G C 414.30 PASS AB=0.391;AC=1;AF=0.50;AN=2;BaseQRankSum=1.732;DB;DP=23;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9947;MQ=56.92;MQ0=0;MQRankSum=2.047;QD=18.01;ReadPosRankSum=-2.11;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DYSF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461565 GT:AD:DP:GQ:PL 0/1:9,14:23:99:444,0,261
2 71801334 . C CAGGCGG 497.26 PASS AB=0.84;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.788;DP=42;FS=0.0;HRun=0;HaplotypeScore=316.6331;IndelType=I;MQ=53.14;MQ0=0;MQRankSum=-1.938;QD=11.84;ReadPosRankSum=-1.991;SNPEFF_AMINO_ACID_CHANGE=Q1048QAE;SNPEFF_CODON_CHANGE=cag/cAGGCGGag;SNPEFF_EFFECT=CODON_INSERTION;SNPEFF_EXON_ID=exon_2_71801328_71801501;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DYSF;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000409744 GT:AD:DP:GQ:PL 0/1:34,6:42:99:536,0,1103
2 71801564 rs75127120 G A 238.52 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=0.95;DB;DP=20;Dels=0.0;FS=3.757;HRun=0;HaplotypeScore=0.0;MQ=57.66;MQ0=0;MQRankSum=1.115;QD=11.93;ReadPosRankSum=1.032;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DYSF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461565 GT:AD:DP:GQ:PL 0/1:12,8:20:99:269,0,382
2 71816602 rs3811611 G C 535.90 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.73;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DYSF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258104 GT:AD:DP:GQ:PL 1/1:0,15:15:42.14:569,42,0
2 71817003 rs1473228 A G 171.32 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DYSF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258104 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:204,15,0
2 71828423 rs2303604 A T 211.97 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.33;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DYSF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475076 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:245,18,0
2 71829821 rs1529408 G T 334.38 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.4;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DYSF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475076 GT:AD:DP:GQ:PL 1/1:0,11:11:27.08:367,27,0
2 71838597 rs2303606 C A 545.87 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.685;DB;DP=48;Dels=0.0;FS=1.219;HRun=0;HaplotypeScore=0.0;MQ=58.55;MQ0=0;MQRankSum=-0.61;QD=11.37;ReadPosRankSum=1.059;SNPEFF_AMINO_ACID_CHANGE=I1323;SNPEFF_CODON_CHANGE=atC/atA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_71838595_71838756;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DYSF;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000409744 GT:AD:DP:GQ:PL 0/1:27,21:48:99:576,0,822
2 71871039 rs84181 A G 49.41 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.7;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DYSF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258104 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
2 71871236 rs84182 A G 139.80 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.3;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DYSF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468173 GT:AD:DP:GQ:PL 1/1:0,6:6:12.04:172,12,0
2 71891236 rs2303598 C T 238.38 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.05;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DYSF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258104 GT:AD:DP:GQ:PL 1/1:0,7:7:21.06:271,21,0
2 71891361 rs2303599 C T 1318.16 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.44;MQ0=0;QD=32.15;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DYSF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258104 GT:AD:DP:GQ:PL 1/1:0,41:41:99:1351,102,0
2 71891650 . C G 87.56 PASS AC=2;AF=1.00;AN=2;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.19;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DYSF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258104 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:120,9,0
2 71901286 rs2559081 C T 734.64 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.99;MQ0=0;QD=31.94;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DYSF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258104 GT:AD:DP:GQ:PL 1/1:0,23:23:60.19:768,60,0
2 71906171 rs1863812 T C 1107.98 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.866;DB;DP=39;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.8614;MQ=59.42;MQ0=0;MQRankSum=-1.348;QD=27.7;ReadPosRankSum=0.481;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DYSF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258104 GT:AD:DP:GQ:PL 1/1:1,38:39:58.90:1141,59,0
2 71906278 rs17718530 A C 546.03 PASS AB=0.489;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.533;DB;DP=47;Dels=0.0;FS=2.597;HRun=3;HaplotypeScore=0.0;MQ=59.51;MQ0=0;MQRankSum=0.624;QD=11.62;ReadPosRankSum=0.057;SNPEFF_AMINO_ACID_CHANGE=P1953;SNPEFF_CODON_CHANGE=ccA/ccC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_71906187_71906365;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DYSF;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000258104 GT:AD:DP:GQ:PL 0/1:23,24:47:99:576,0,749
2 71909822 rs2559082 C T 259.23 PASS AB=0.438;AC=1;AF=0.50;AN=2;BaseQRankSum=3.281;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.55;MQ0=0;MQRankSum=0.106;QD=16.2;ReadPosRankSum=-2.329;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DYSF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258104 GT:AD:DP:GQ:PL 0/1:7,9:16:99:289,0,157
2 72692272 rs5832083 A AAG 5355.23 PASS AC=2;AF=1.00;AN=2;DB;DP=101;FS=0.0;HRun=0;HaplotypeScore=256.5518;IndelType=I;MQ=59.09;MQ0=0;QD=53.02;SNPEFF_EFFECT=FRAME_SHIFT;SNPEFF_EXON_ID=exon_2_72688605_72692468;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EXOC6B;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000410104 GT:AD:DP:GQ:PL 1/1:5,94:101:99:5355,292,0
2 72742083 rs68104471 GAC G 243.99 PASS AC=2;AF=1.00;AN=2;DB;DP=11;FS=0.0;HRun=0;HaplotypeScore=50.6633;IndelType=D;MQ=61.94;MQ0=0;QD=22.18;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EXOC6B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272427 GT:AD:DP:GQ:PL 1/1:3,7:11:29.54:286,30,0
2 72786528 rs7559956 A C 531.14 PASS AB=0.565;AC=1;AF=0.50;AN=2;BaseQRankSum=0.701;DB;DP=46;Dels=0.0;FS=3.183;HRun=1;HaplotypeScore=1.9998;MQ=59.5;MQ0=0;MQRankSum=-0.816;QD=11.55;ReadPosRankSum=-0.218;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EXOC6B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272427 GT:AD:DP:GQ:PL 0/1:26,20:46:99:561,0,799
2 72945013 rs4852891 T G 210.96 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EXOC6B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272427 GT:AD:DP:GQ:PL 1/1:0,7:7:21.06:244,21,0
2 72958022 rs5832088 T TAAG 537.65 PASS AC=2;AF=1.00;AN=2;DB;DP=9;FS=0.0;HRun=0;HaplotypeScore=42.7987;IndelType=I;MQ=55.96;MQ0=0;QD=59.74;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EXOC6B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272427 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:580,27,0
2 73151231 rs1561247 C T 37.67 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.83;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EMX1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258106 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:69,6,0
2 73339430 rs4143146 T G 135.48 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RAB11FIP5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258098 GT:AD:DP:GQ:PL 1/1:0,5:5:15.02:168,15,0
2 73339708 rs1864488 G A 400.14 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.34;SNPEFF_AMINO_ACID_CHANGE=C66;SNPEFF_CODON_CHANGE=tgC/tgT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_73339475_73340146;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RAB11FIP5;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000258098 GT:AD:DP:GQ:PL 1/1:0,12:12:33.11:433,33,0
2 73471193 rs11289471 G GT 162.94 PASS AB=0.764;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.589;DB;DP=42;FS=0.0;HRun=17;HaplotypeScore=367.0494;IndelType=I;MQ=47.12;MQ0=0;MQRankSum=-1.954;QD=3.88;ReadPosRankSum=-1.767;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CCT7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000399032 GT:AD:DP:GQ:PL 0/1:26,11:42:57.83:202,0,58
2 73491644 rs61733550 C T 268.77 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=3.33;DB;DP=22;Dels=0.0;FS=2.318;HRun=0;HaplotypeScore=0.0;MQ=59.15;MQ0=0;MQRankSum=0.363;QD=12.22;ReadPosRankSum=-1.22;SNPEFF_AMINO_ACID_CHANGE=R523H;SNPEFF_CODON_CHANGE=cGc/cAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_73491406_73491647;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FBXO41;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000521871 GT:AD:DP:GQ:PL 0/1:12,10:22:99:299,0,309
2 73491683 rs4852916 G A 211.94 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.468;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.66;MQ0=0;MQRankSum=1.365;QD=15.14;ReadPosRankSum=-0.627;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FBXO41;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000519873 GT:AD:DP:GQ:PL 0/1:6,8:14:99:242,0,141
2 73492614 rs526106 A T 208.01 PASS AB=0.273;AC=1;AF=0.50;AN=2;BaseQRankSum=1.818;DB;DP=11;Dels=0.0;FS=2.73;HRun=0;HaplotypeScore=1.5778;MQ=60.0;MQ0=0;MQRankSum=-1.58;QD=18.91;ReadPosRankSum=-0.546;SNPEFF_AMINO_ACID_CHANGE=S454T;SNPEFF_CODON_CHANGE=Tcc/Acc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_73492410_73492768;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FBXO41;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000521871 GT:AD:DP:GQ:PL 0/1:3,8:11:71.16:238,0,71
2 73649733 rs4852305 T G 53.64 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.82;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALMS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264448 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:85,6,0
2 73650122 rs1881246 T A 4253.14 PASS AC=2;AF=1.00;AN=2;DB;DP=119;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.74;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALMS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264448 GT:AD:DP:GQ:PL 1/1:0,119:119:99:4253,310,0
2 73659456 rs17434013 C T 324.95 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=3.154;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.96;MQ0=0;MQRankSum=0.578;QD=18.05;ReadPosRankSum=-0.133;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALMS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264448 GT:AD:DP:GQ:PL 0/1:8,10:18:99:355,0,227
2 73675019 rs71879475 CT C 539.08 PASS AC=2;AF=1.00;AN=2;DB;DP=20;FS=0.0;HRun=7;HaplotypeScore=58.1695;IndelType=D;MQ=56.1;MQ0=0;QD=26.95;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALMS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264448 GT:AD:DP:GQ:PL 1/1:1,19:20:57.13:581,57,0
2 73675227 rs34628045 T TCTC 4323.46 PASS AC=2;AF=1.00;AN=2;DB;DP=67;FS=0.0;HRun=0;HaplotypeScore=191.1445;IndelType=I;MQ=54.57;MQ0=0;QD=64.53;SNPEFF_AMINO_ACID_CHANGE=S482SP;SNPEFF_CODON_CHANGE=tct/tCTCct;SNPEFF_EFFECT=CODON_INSERTION;SNPEFF_EXON_ID=exon_2_73675090_73681194;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALMS1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000409009 GT:AD:DP:GQ:PL 1/1:4,62:67:99:4323,193,0
2 73675669 rs2037814 T G 3781.43 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.973;DB;DP=105;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.7885;MQ=59.78;MQ0=0;MQRankSum=-0.379;QD=36.01;ReadPosRankSum=1.072;SNPEFF_AMINO_ACID_CHANGE=V629G;SNPEFF_CODON_CHANGE=gTa/gGa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_73675090_73681194;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALMS1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000409009 GT:AD:DP:GQ:PL 1/1:1,104:105:99:3781,242,0
2 73675844 rs7598901 C T 5583.18 PASS AC=2;AF=1.00;AN=2;DB;DP=157;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.8667;MQ=59.56;MQ0=0;QD=35.56;SNPEFF_AMINO_ACID_CHANGE=F687;SNPEFF_CODON_CHANGE=ttC/ttT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_73675090_73681194;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALMS1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000409009 GT:AD:DP:GQ:PL 1/1:0,156:157:99:5583,418,0
2 73828310 rs1320374 T C 2417.37 PASS AC=2;AF=1.00;AN=2;DB;DP=72;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.36;MQ0=0;QD=33.57;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALMS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264448 GT:AD:DP:GQ:PL 1/1:0,71:72:99:2450,184,0
2 73828538 rs1052161 G A 915.87 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.71;SNPEFF_AMINO_ACID_CHANGE=R3987K;SNPEFF_CODON_CHANGE=aGg/aAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_73828322_73828563;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALMS1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000409009 GT:AD:DP:GQ:PL 1/1:0,28:28:75.21:949,75,0
2 73867897 rs1879662 A G 49.41 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.7;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NAT8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272425 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
2 73898118 rs7570683 C T 1703.92 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.41;MQ0=0;QD=35.5;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ALMS1P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000450720 GT:AD:DP:GQ:PL 1/1:0,48:48:99:1737,126,0
2 73898359 rs4341964 G A 781.91 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.75;MQ0=0;QD=39.1;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ALMS1P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000428767 GT:AD:DP:GQ:PL 1/1:0,20:20:60.20:815,60,0
2 73898420 rs2421582 A G 246.76 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.25;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ALMS1P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000428767 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:280,21,0
2 73899613 rs2421585 T G 2183.91 PASS AC=2;AF=1.00;AN=2;DB;DP=69;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.55;MQ0=0;QD=31.65;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ALMS1P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000428767 GT:AD:DP:GQ:PL 1/1:0,69:69:99:2217,168,0
2 73899719 rs2421586 C T 732.05 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.788;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9997;MQ=59.19;MQ0=0;MQRankSum=1.261;QD=31.83;ReadPosRankSum=0.473;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ALMS1P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000428767 GT:AD:DP:GQ:PL 1/1:1,22:23:26.20:765,26,0
2 73899955 rs6725284 G T 1272.08 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.35;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ALMS1P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000428767 GT:AD:DP:GQ:PL 1/1:0,35:35:96.32:1305,96,0
2 73900210 rs4637150 A G 819.20 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.34;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ALMS1P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000428767 GT:AD:DP:GQ:PL 1/1:0,27:27:63.18:852,63,0
2 73900329 rs2421587 G A 168.57 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.16;MQ0=0;QD=33.71;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ALMS1P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000428767 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:201,15,0
2 73900844 rs7579068 C G 393.75 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.8;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ALMS1P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000428767 GT:AD:DP:GQ:PL 1/1:0,11:11:33.11:427,33,0
2 73927931 rs4852974 A G 2477.81 PASS AC=2;AF=1.00;AN=2;DB;DP=74;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.734;MQ=59.12;MQ0=0;QD=33.48;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC092653.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000377712 GT:AD:DP:GQ:PL 1/1:0,73:74:99:2511,187,0
2 73928098 rs2001490 C G 3594.63 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.28;DB;DP=106;Dels=0.0;FS=3.052;HRun=0;HaplotypeScore=1.6598;MQ=60.0;MQ0=0;MQRankSum=-1.369;QD=33.91;ReadPosRankSum=-0.973;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC092653.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000377712 GT:AD:DP:GQ:PL 1/1:1,105:106:99:3595,239,0
2 73928366 rs2012574 G C 1700.61 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.9967;MQ=58.88;MQ0=0;QD=27.43;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC092653.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000377712 GT:AD:DP:GQ:PL 1/1:0,62:62:99:1734,147,0
2 73957124 rs7210 A G 660.79 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.84;MQ0=0;QD=33.04;SNPEFF_AMINO_ACID_CHANGE=I158;SNPEFF_CODON_CHANGE=atT/atC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_73956957_73957156;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TPRKB;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000272424 GT:AD:DP:GQ:PL 1/1:0,20:20:54.17:694,54,0
2 73957227 rs13003035 T A 457.51 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.13;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TPRKB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462166 GT:AD:DP:GQ:PL 1/1:0,12:12:36.12:491,36,0
2 73993436 rs146956468 CA C 60.98 PASS AC=2;AF=1.00;AN=2;DB;DP=7;FS=0.0;HRun=14;HaplotypeScore=33.3088;IndelType=D;MQ=54.75;MQ0=0;QD=8.71;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DUSP11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000377706 GT:AD:DP:GQ:PL 1/1:1,6:7:14.83:103,15,0
2 73994074 rs2567599 G A 1345.52 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;QD=37.38;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DUSP11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000377706 GT:AD:DP:GQ:PL 1/1:0,36:36:99:1379,102,0
2 74000701 rs2116367 C T 496.22 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.17;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DUSP11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272444 GT:AD:DP:GQ:PL 1/1:0,13:13:39.13:529,39,0
2 74007136 rs2272051 T C 882.03 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.75;SNPEFF_AMINO_ACID_CHANGE=D36G;SNPEFF_CODON_CHANGE=gAc/gGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_74007001_74007284;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DUSP11;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000272444 GT:AD:DP:GQ:PL 1/1:0,24:24:72.22:915,72,0
2 74035880 rs11675635 A G 74.74 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=16.02;MQ0=13;QD=3.74;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf78;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409561 GT:AD:DP:GQ:PL 1/1:9,11:20:9.02:107,9,0
2 74128361 rs1653258 T G 173.14 PASS AB=0.65;AC=1;AF=0.50;AN=2;BaseQRankSum=0.792;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.268;QD=8.66;ReadPosRankSum=0.238;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ACTG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000345517 GT:AD:DP:GQ:PL 0/1:13,7:20:99:203,0,478
2 74128369 rs1632564 G A 200.99 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.749;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.13;MQ0=0;MQRankSum=-1.359;QD=8.04;ReadPosRankSum=-0.25;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ACTG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000345517 GT:AD:DP:GQ:PL 0/1:15,10:25:99:231,0,525
2 74128391 rs1721241 G C 207.95 PASS AB=0.606;AC=1;AF=0.50;AN=2;BaseQRankSum=3.298;DB;DP=33;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.9867;MQ=57.87;MQ0=0;MQRankSum=0.534;QD=6.3;ReadPosRankSum=-0.608;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ACTG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000345517 GT:AD:DP:GQ:PL 0/1:20,13:33:99:238,0,565
2 74128433 rs1050146 C T 353.56 PASS AB=0.575;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.614;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.3913;MQ=57.66;MQ0=0;MQRankSum=2.298;QD=8.84;ReadPosRankSum=-0.357;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ACTG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468543 GT:AD:DP:GQ:PL 0/1:23,17:40:99:384,0,702
2 74129474 rs1726025 T C 265.81 PASS AB=0.694;AC=1;AF=0.50;AN=2;BaseQRankSum=1.511;DB;DP=36;Dels=0.0;FS=3.43;HRun=0;HaplotypeScore=0.9832;MQ=60.0;MQ0=0;MQRankSum=-0.687;QD=7.38;ReadPosRankSum=0.103;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ACTG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468543 GT:AD:DP:GQ:PL 0/1:25,11:36:99:296,0,720
2 74129664 rs1653256 A G 593.85 PASS AB=0.45;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.705;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.59;QD=14.85;ReadPosRankSum=-0.503;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ACTG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468543 GT:AD:DP:GQ:PL 0/1:18,22:40:99:624,0,587
2 74129712 rs1721243 C G 1388.24 PASS AB=0.419;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.67;DB;DP=74;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7262;MQ=59.69;MQ0=0;MQRankSum=-0.844;QD=18.76;ReadPosRankSum=-0.482;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ACTG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468543 GT:AD:DP:GQ:PL 0/1:31,43:74:99:1418,0,1050
2 74129895 rs1721244 G A 978.72 PASS AB=0.475;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.6;DB;DP=61;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9832;MQ=59.24;MQ0=0;MQRankSum=0.659;QD=16.04;ReadPosRankSum=-0.215;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ACTG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468543 GT:AD:DP:GQ:PL 0/1:29,32:61:99:1009,0,907
2 74130024 rs1653255 C A 33.59 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=5;Dels=0.0;FS=3.979;HRun=2;HaplotypeScore=0.0;MQ=56.16;MQ0=0;MQRankSum=-0.358;QD=6.72;ReadPosRankSum=0.358;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ACTG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468543 GT:AD:DP:GQ:PL 0/1:3,2:5:63.58:64,0,109
2 74135732 rs702460 G A 329.33 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.056;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.23;MQ0=0;MQRankSum=-0.427;QD=10.98;ReadPosRankSum=0.832;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ACTG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000345517 GT:AD:DP:GQ:PL 0/1:18,12:30:99:359,0,621
2 74135797 rs702461 T C 715.59 PASS AB=0.569;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.04;DB;DP=58;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.5784;MQ=59.6;MQ0=0;MQRankSum=0.651;QD=12.34;ReadPosRankSum=1.632;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ACTG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000345517 GT:AD:DP:GQ:PL 0/1:33,25:58:99:746,0,1086
2 74135898 rs756128 A G 1113.99 PASS AB=0.535;AC=1;AF=0.50;AN=2;BaseQRankSum=1.39;DB;DP=86;Dels=0.0;FS=1.807;HRun=0;HaplotypeScore=5.2464;MQ=59.78;MQ0=0;MQRankSum=-0.054;QD=12.95;ReadPosRankSum=-1.247;SNPEFF_AMINO_ACID_CHANGE=E118;SNPEFF_CODON_CHANGE=gaA/gaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_74135800_74135910;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ACTG2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000345517 GT:AD:DP:GQ:PL 0/1:46,40:86:99:1144,0,1423
2 74140581 rs891699 A T 159.73 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.26;DB;DP=27;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=1.7465;MQ=58.27;MQ0=0;MQRankSum=0.952;QD=5.92;ReadPosRankSum=1.106;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ACTG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000442912 GT:AD:DP:GQ:PL 0/1:18,9:27:99:190,0,631
2 74140789 rs891698 T C 668.89 PASS AB=0.458;AC=1;AF=0.50;AN=2;BaseQRankSum=1.293;DB;DP=48;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.21;QD=13.94;ReadPosRankSum=0.197;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ACTG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000429756 GT:AD:DP:GQ:PL 0/1:22,26:48:99:699,0,724
2 74140888 rs891697 A C 239.16 PASS AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=0.449;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.122;QD=12.59;ReadPosRankSum=-0.204;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ACTG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000429756 GT:AD:DP:GQ:PL 0/1:10,9:19:99:269,0,345
2 74153905 rs831526 C T 163.65 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.16;MQ0=0;QD=32.73;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DGUOK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264093 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:196,15,0
2 74273383 rs35957320 T TC 511.15 PASS AB=0.628;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.399;DB;DP=27;FS=0.0;HRun=5;HaplotypeScore=58.4163;IndelType=I;MQ=60.4;MQ0=0;MQRankSum=-0.87;QD=18.93;ReadPosRankSum=1.818;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TET3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000305799 GT:AD:DP:GQ:PL 0/1:11,16:27:99:550,0,240
2 74300717 rs7560668 T C 280.63 PASS AB=0.412;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.342;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.732;QD=16.51;ReadPosRankSum=0.927;SNPEFF_AMINO_ACID_CHANGE=L711;SNPEFF_CODON_CHANGE=Ttg/Ctg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_74300676_74300766;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TET3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000233310 GT:AD:DP:GQ:PL 0/1:7,10:17:99:311,0,239
2 74362990 rs9789534 T A 41.81 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.9;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073263.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401851 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:73,6,0
2 74383630 rs11540640 G A 210.90 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.15;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MOBKL1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000495286 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:244,18,0
2 74383911 rs828852 G A 36.55 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=12.18;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MOBKL1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000495286 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:68,6,0
2 74383912 rs56259334 T C 37.45 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=12.48;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MOBKL1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000495286 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:69,6,0
2 74386569 rs3762480 T C 90.65 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.13;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MOBKL1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409969 GT:AD:DP:GQ:PL 1/1:0,5:5:12.02:123,12,0
2 74394034 rs56873314 G C 1180.97 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=39.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MOBKL1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000396049 GT:AD:DP:GQ:PL 1/1:0,30:30:87.29:1214,87,0
2 74405867 rs79791015 T G 44.87 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.44;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_2_74405788_74405995;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MOBKL1B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000396049 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:76,6,0
2 74425932 rs3821321 G A 122.55 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.64;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTHFD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264090 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:155,12,0
2 74439180 rs844169 T G 124.93 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.21;MQ0=0;QD=24.99;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTHFD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462026 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:157,12,0
2 74448655 rs7587117 T C 265.43 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.801;DB;DP=27;Dels=0.0;FS=1.81;HRun=0;HaplotypeScore=0.0;MQ=59.14;MQ0=0;MQRankSum=1.605;QD=9.83;ReadPosRankSum=0.789;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTHFD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000394053 GT:AD:DP:GQ:PL 0/1:13,13:27:99:295,0,431
2 74448672 rs1020485 C A 232.18 PASS AB=0.55;AC=1;AF=0.50;AN=2;BaseQRankSum=0.041;DB;DP=20;Dels=0.05;FS=2.392;HRun=1;HaplotypeScore=0.9665;MQ=58.89;MQ0=0;MQRankSum=0.204;QD=11.06;ReadPosRankSum=0.122;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTHFD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000394053 GT:AD:DP:GQ:PL 0/1:11,9:20:99:262,0,287
2 74451762 rs12053233 C T 97.47 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.55;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9159;MQ=56.62;MQ0=0;MQRankSum=0.937;QD=13.92;ReadPosRankSum=-1.3;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SLC4A5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000425249 GT:AD:DP:GQ:PL 0/1:3,4:7:94.96:127,0,95
2 74466805 rs12464182 C T 93.25 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.08;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SLC4A5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000346834 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:125,9,0
2 74482892 rs7602215 T C 177.84 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.573;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.001;QD=17.78;ReadPosRankSum=-1.422;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SLC4A5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000346834 GT:AD:DP:GQ:PL 0/1:4,6:10:94.63:208,0,95
2 74512808 rs12617294 G A 158.85 PASS AB=0.125;AC=1;AF=0.50;AN=2;BaseQRankSum=0.747;DB;DP=8;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=56.45;MQ0=0;MQRankSum=0.747;QD=19.86;ReadPosRankSum=0.747;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SLC4A5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000436454 GT:AD:DP:GQ:PL 0/1:1,7:8:20.72:189,0,21
2 74531420 rs9309483 T C 38.89 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=12.96;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SLC4A5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000346834 GT:AD:DP:GQ:PL 0/1:1,2:3:22.52:69,0,23
2 74589019 rs741788 A G 38.48 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=7.7;ReadPosRankSum=0.358;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DCTN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000492717 GT:AD:DP:GQ:PL 0/1:3,2:5:68.47:68,0,106
2 74595014 rs909177 G A 592 PASS AB=0.63;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.881;DB;DP=55;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.22;QD=10.76;ReadPosRankSum=1.294;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DCTN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000458655 GT:AD:DP:GQ:PL 0/1:34,20:55:99:622,0,1131
2 74596168 rs5832131 G GA 575.14 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.541;DB;DP=24;FS=4.416;HRun=1;HaplotypeScore=65.0626;IndelType=I;MQ=60.45;MQ0=0;MQRankSum=0.214;QD=23.96;ReadPosRankSum=0.827;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DCTN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000458655 GT:AD:DP:GQ:PL 0/1:9,14:24:99:614,0,233
2 74597527 rs740277 G A 333.57 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.992;DB;DP=33;Dels=0.0;FS=8.039;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.954;QD=10.11;ReadPosRankSum=-1.403;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DCTN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000458655 GT:AD:DP:GQ:PL 0/1:21,12:33:99:364,0,617
2 74604673 rs3213672 C T 863.87 PASS AB=0.569;AC=1;AF=0.50;AN=2;BaseQRankSum=3.557;DB;DP=65;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=0.232;QD=13.29;ReadPosRankSum=1.093;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DCTN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000413111 GT:AD:DP:GQ:PL 0/1:37,28:65:99:894,0,1160
2 74604895 rs3815241 T C 429.76 PASS AB=0.448;AC=1;AF=0.50;AN=2;BaseQRankSum=1.162;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.162;QD=14.82;ReadPosRankSum=0.943;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DCTN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000413111 GT:AD:DP:GQ:PL 0/1:13,16:29:99:460,0,383
2 74641622 rs139920523 A G 292.12 PASS AB=0.308;AC=1;AF=0.50;AN=2;BaseQRankSum=1.774;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=-0.386;QD=22.47;ReadPosRankSum=1.62;SNPEFF_AMINO_ACID_CHANGE=V466A;SNPEFF_CODON_CHANGE=gTg/gCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_74641304_74643710;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf81;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000517883 GT:AD:DP:GQ:PL 0/1:4,9:13:99:322,0,107
2 74649916 . TC T 445.26 PASS AC=2;AF=1.00;AN=2;DP=17;FS=0.0;HRun=5;HaplotypeScore=107.5264;IndelType=D;MQ=54.32;MQ0=0;QD=26.19;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RTKN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233330 GT:AD:DP:GQ:PL 1/1:9,8:17:50.75:487,51,0
2 74689078 rs142032474 C T 490.58 PASS AB=0.55;AC=1;AF=0.50;AN=2;BaseQRankSum=0.887;DB;DP=40;Dels=0.0;FS=1.243;HRun=0;HaplotypeScore=0.9159;MQ=59.42;MQ0=0;MQRankSum=0.916;QD=12.26;ReadPosRankSum=-0.099;SNPEFF_AMINO_ACID_CHANGE=R507Q;SNPEFF_CODON_CHANGE=cGg/cAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_74688185_74690139;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MOGS;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000452063 GT:AD:DP:GQ:PL 0/1:22,18:40:99:521,0,601
2 74720002 rs4853026 C G 1744.70 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.04;MQ0=0;QD=31.72;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LBX2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341396 GT:AD:DP:GQ:PL 1/1:0,55:55:99:1778,132,0
2 74725144 rs6546908 T C 750.01 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.61;SNPEFF_AMINO_ACID_CHANGE=E165;SNPEFF_CODON_CHANGE=gaA/gaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_74724644_74725445;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LBX2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000460508 GT:AD:DP:GQ:PL 1/1:0,23:23:60.19:783,60,0
2 74756548 rs1183739 G C 35.59 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=8.9;ReadPosRankSum=-1.026;SNPEFF_AMINO_ACID_CHANGE=L43;SNPEFF_CODON_CHANGE=ctC/ctG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_74756489_74756626;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=AUP1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000258081 GT:AD:DP:GQ:PL 0/1:2,2:4:65.59:66,0,74
2 74884611 rs205650 A G 233.61 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=1.22;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=15.57;ReadPosRankSum=1.555;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SEMA4F;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000339773 GT:AD:DP:GQ:PL 0/1:7,8:15:99:264,0,237
2 74900495 rs205648 G A 674.27 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.11;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SEMA4F;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000339773 GT:AD:DP:GQ:PL 1/1:0,21:21:57.15:707,57,0
2 75061475 rs11556194 G C 87.09 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.77;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409174 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:119,9,0
2 75061873 rs663504 C G 265.05 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.13;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000290573 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:298,24,0
2 75105798 rs604112 A G 210.56 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.62;MQ0=0;QD=30.08;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000290573 GT:AD:DP:GQ:PL 1/1:0,7:7:18.06:243,18,0
2 75107201 rs17010492 G A 354.57 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.58;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.3696;MQ=59.32;MQ0=0;MQRankSum=1.648;QD=10.43;ReadPosRankSum=-1.602;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000290573 GT:AD:DP:GQ:PL 0/1:17,17:34:99:385,0,340
2 75107246 rs11903758 C G 962.28 PASS AB=0.476;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.283;DB;DP=63;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7675;MQ=58.97;MQ0=0;MQRankSum=0.524;QD=15.27;ReadPosRankSum=1.359;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000290573 GT:AD:DP:GQ:PL 0/1:30,33:63:99:992,0,933
2 75108697 rs77041784 T A 271.76 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.898;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=27.18;ReadPosRankSum=0.48;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000290573 GT:AD:DP:GQ:PL 0/1:2,8:10:53.42:302,0,53
2 75113572 rs2306806 G A 1307.64 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.41;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000290573 GT:AD:DP:GQ:PL 1/1:0,38:38:99:1341,102,0
2 75113657 rs2229626 C T 1073.14 PASS AB=0.392;AC=1;AF=0.50;AN=2;BaseQRankSum=0.633;DB;DP=51;Dels=0.0;FS=2.697;HRun=0;HaplotypeScore=0.9983;MQ=60.0;MQ0=0;MQRankSum=0.674;QD=21.04;ReadPosRankSum=1.027;SNPEFF_AMINO_ACID_CHANGE=N664;SNPEFF_CODON_CHANGE=aaC/aaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_75113617_75113800;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HK2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000409174 GT:AD:DP:GQ:PL 0/1:20,31:51:99:1103,0,511
2 75113789 rs2229627 C G 1175.57 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.99;SNPEFF_AMINO_ACID_CHANGE=P708;SNPEFF_CODON_CHANGE=ccC/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_75113617_75113800;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HK2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000409174 GT:AD:DP:GQ:PL 1/1:0,42:42:99:1209,99,0
2 75113903 rs17741356 A G 295.81 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=0.212;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.061;QD=21.13;ReadPosRankSum=-0.636;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000290573 GT:AD:DP:GQ:PL 0/1:4,10:14:99:326,0,116
2 75115108 rs10194657 A G 1528.98 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.433;DB;DP=48;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.66;QD=31.85;ReadPosRankSum=-0.577;SNPEFF_AMINO_ACID_CHANGE=L738;SNPEFF_CODON_CHANGE=ctA/ctG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_75115030_75115185;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HK2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000409174 GT:AD:DP:GQ:PL 1/1:1,47:48:79.15:1562,79,0
2 75115379 rs2279429 C T 89.85 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.95;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000290573 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:122,9,0
2 75116627 rs4853069 C T 156.17 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.31;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000290573 GT:AD:DP:GQ:PL 1/1:0,7:7:15.05:189,15,0
2 75157617 rs33988806 T TCCTC 1889.17 PASS AB=0.704;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.927;DB;DP=57;FS=13.649;HRun=0;HaplotypeScore=232.7744;IndelType=I;MQ=57.48;MQ0=0;MQRankSum=-0.365;QD=33.14;ReadPosRankSum=-0.347;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AC104135.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000377469 GT:AD:DP:GQ:PL 0/1:33,22:57:99:1928,0,1569
2 75187573 rs3771799 G A 801.80 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.18;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POLE4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473023 GT:AD:DP:GQ:PL 1/1:0,21:21:63.20:835,63,0
2 75187793 rs3821312 A T 687.21 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.72;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POLE4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473023 GT:AD:DP:GQ:PL 1/1:0,21:21:54.16:720,54,0
2 75187869 rs3771800 T C 51.62 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.683;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.248;QD=5.74;ReadPosRankSum=0.248;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POLE4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473023 GT:AD:DP:GQ:PL 0/1:6,3:9:81.62:82,0,218
2 75196731 rs7881 A G 166.06 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.597;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.66;MQ0=0;MQRankSum=1.246;QD=15.1;ReadPosRankSum=0.278;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POLE4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233699 GT:AD:DP:GQ:PL 0/1:4,7:11:99:196,0,120
2 75276429 rs881 C G 33.83 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.04;MQ0=0;MQRankSum=0.72;QD=5.64;ReadPosRankSum=1.38;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TACR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409848 GT:AD:DP:GQ:PL 0/1:4,2:6:63.82:64,0,139
2 75425623 rs2024512 G A 1012.62 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.75;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TACR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000305249 GT:AD:DP:GQ:PL 1/1:0,30:30:75.25:1046,75,0
2 75425728 rs6715729 A G 1638.86 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.91;DB;DP=60;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=58.91;MQ0=0;MQRankSum=-1.615;QD=27.31;ReadPosRankSum=1.028;SNPEFF_AMINO_ACID_CHANGE=F111;SNPEFF_CODON_CHANGE=ttT/ttC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_75425672_75426826;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TACR1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000305249 GT:AD:DP:GQ:PL 1/1:1,59:60:99:1672,105,0
2 75720664 rs6741778 G A 231.05 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.397;DB;DP=26;Dels=0.0;FS=3.751;HRun=1;HaplotypeScore=1.5317;MQ=60.0;MQ0=0;MQRankSum=0.659;QD=8.89;ReadPosRankSum=-1.449;SNPEFF_AMINO_ACID_CHANGE=L41;SNPEFF_CODON_CHANGE=Ctg/Ttg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_75720200_75720735;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FAM176A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000410010 GT:AD:DP:GQ:PL 0/1:16,10:26:99:261,0,543
2 75744918 rs2286995 T C 567.02 PASS AB=0.561;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.037;DB;DP=57;Dels=0.0;FS=1.214;HRun=3;HaplotypeScore=0.0;MQ=59.6;MQ0=0;MQRankSum=-0.024;QD=9.78;ReadPosRankSum=0.249;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FAM176A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000486696 GT:AD:DP:GQ:PL 0/1:32,25:57:99:597,0,1009
2 75879452 rs4853168 G C 555.50 PASS AB=0.514;AC=1;AF=0.50;AN=2;BaseQRankSum=0.902;DB;DP=37;Dels=0.0;FS=3.274;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.06;QD=15.01;ReadPosRankSum=0.301;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=MRPL19;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000493686 GT:AD:DP:GQ:PL 0/1:19,18:37:99:585,0,501
2 75881828 rs6759555 T C 470.11 PASS AB=0.448;AC=1;AF=0.50;AN=2;BaseQRankSum=2.171;DB;DP=29;Dels=0.0;FS=13.222;HRun=0;HaplotypeScore=0.0;MQ=59.2;MQ0=0;MQRankSum=1.381;QD=16.21;ReadPosRankSum=-3.223;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=MRPL19;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000393909 GT:AD:DP:GQ:PL 0/1:13,16:29:99:500,0,443
2 75882399 rs17689863 G A 455.27 PASS AB=0.529;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.776;DB;DP=34;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.9916;MQ=57.94;MQ0=0;MQRankSum=0.052;QD=13.39;ReadPosRankSum=1.604;SNPEFF_AMINO_ACID_CHANGE=S289;SNPEFF_CODON_CHANGE=tcG/tcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_75882190_75884986;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=MRPL19;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000393909 GT:AD:DP:GQ:PL 0/1:18,16:34:99:485,0,589
2 75892111 rs17690224 T C 57.63 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9997;MQ=60.0;MQ0=0;MQRankSum=1.231;QD=11.53;ReadPosRankSum=-0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C2orf3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000321027 GT:AD:DP:GQ:PL 0/1:2,3:5:68.95:88,0,69
2 75900700 rs5832172 C CA 136.26 PASS AB=0.767;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.916;DB;DP=23;FS=0.0;HRun=9;HaplotypeScore=58.3103;IndelType=I;MQ=60.13;MQ0=0;MQRankSum=0.38;QD=5.92;ReadPosRankSum=-0.549;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=MRPL19;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409374 GT:AD:DP:GQ:PL 0/1:16,7:23:99:175,0,256
2 75915035 rs1803196 C T 939.77 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.516;DB;DP=71;Dels=0.0;FS=8.645;HRun=0;HaplotypeScore=0.7887;MQ=59.68;MQ0=0;MQRankSum=0.667;QD=13.24;ReadPosRankSum=-0.238;SNPEFF_AMINO_ACID_CHANGE=V498;SNPEFF_CODON_CHANGE=gtG/gtA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_75914953_75915103;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C2orf3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000409857 GT:AD:DP:GQ:PL 0/1:40,31:71:99:970,0,1126
2 75917612 rs2301978 G A 55.52 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.406;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7621;MQ=55.21;MQ0=0;MQRankSum=0.406;QD=9.25;ReadPosRankSum=0.406;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C2orf3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000486016 GT:AD:DP:GQ:PL 0/1:3,3:6:85.51:86,0,100
2 75923413 rs7560262 T C 1456.08 PASS AB=0.44;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.688;DB;DP=91;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.7642;MQ=59.38;MQ0=0;MQRankSum=0.722;QD=16.0;ReadPosRankSum=0.554;SNPEFF_AMINO_ACID_CHANGE=N174S;SNPEFF_CODON_CHANGE=aAt/aGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_75923378_75923441;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C2orf3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000442309 GT:AD:DP:GQ:PL 0/1:40,51:91:99:1486,0,1146
2 75928300 rs6547019 G T 409.39 PASS AB=0.391;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.496;DB;DP=23;Dels=0.0;FS=2.993;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.354;QD=17.8;ReadPosRankSum=-1.354;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C2orf3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470503 GT:AD:DP:GQ:PL 0/1:9,14:23:99:439,0,310
2 75929130 rs3088181 C A 48.77 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C2orf3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000321027 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:80,6,0
2 75929238 rs3088180 C A 477.98 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.877;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.444;QD=21.73;ReadPosRankSum=-0.034;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C2orf3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000321027 GT:AD:DP:GQ:PL 0/1:8,14:22:99:508,0,260
2 75933830 rs6728499 T A 419.05 PASS AB=0.516;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.182;DB;DP=31;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.25;MQ0=0;MQRankSum=0.455;QD=13.52;ReadPosRankSum=1.759;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C2orf3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000321027 GT:AD:DP:GQ:PL 0/1:16,15:31:99:449,0,474
2 77748595 rs7571330 T C 343.57 PASS AB=0.421;AC=1;AF=0.50;AN=2;BaseQRankSum=1.693;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.7652;MQ=57.53;MQ0=0;MQRankSum=-0.784;QD=18.08;ReadPosRankSum=0.619;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRTM4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409088 GT:AD:DP:GQ:PL 0/1:8,11:19:99:374,0,259
2 77748604 rs113233659 TA T 236.67 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.913;DB;DP=26;FS=0.0;HRun=10;HaplotypeScore=131.3974;IndelType=D;MQ=59.06;MQ0=0;MQRankSum=1.165;QD=9.1;ReadPosRankSum=-0.094;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRTM4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409088 GT:AD:DP:GQ:PL 0/1:13,13:26:99:276,0,228
2 78640076 rs2018108 A G 1066.89 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.23;MQ0=0;QD=35.56;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=AC064872.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000434498 GT:AD:DP:GQ:PL 1/1:0,30:30:84.26:1100,84,0
2 78640294 rs768071 A G 128.07 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.61;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=AC064872.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000434498 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:161,12,0
2 79254065 rs431912 C T 235.30 PASS AB=0.633;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.869;DB;DP=30;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9665;MQ=57.17;MQ0=2;MQRankSum=-1.082;QD=7.84;ReadPosRankSum=-1.574;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=REG3G;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272324 GT:AD:DP:GQ:PL 0/1:19,11:30:99:265,0,681
2 79254101 rs396461 T G 529.79 PASS AB=0.547;AC=1;AF=0.50;AN=2;BaseQRankSum=0.523;DB;DP=53;Dels=0.0;FS=1.218;HRun=0;HaplotypeScore=0.0;MQ=58.05;MQ0=2;MQRankSum=-1.113;QD=10.0;ReadPosRankSum=2.197;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=REG3G;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000498312 GT:AD:DP:GQ:PL 0/1:29,24:53:99:560,0,935
2 79254261 rs452267 T C 2217.58 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.367;MQ=60.0;MQ0=0;QD=36.96;SNPEFF_AMINO_ACID_CHANGE=Y99;SNPEFF_CODON_CHANGE=taT/taC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_79254160_79254297;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=REG3G;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000272324 GT:AD:DP:GQ:PL 1/1:0,60:60:99:2251,166,0
2 79254442 rs17016222 C T 212.79 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.101;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.101;QD=15.2;ReadPosRankSum=-0.555;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=REG3G;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000490944 GT:AD:DP:GQ:PL 0/1:7,7:14:99:243,0,207
2 79255325 rs2290079 G C 774.64 PASS AB=0.419;AC=1;AF=0.50;AN=2;BaseQRankSum=2.203;DB;DP=43;Dels=0.0;FS=11.541;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.219;QD=18.01;ReadPosRankSum=0.628;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=REG3G;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000490944 GT:AD:DP:GQ:PL 0/1:18,25:43:99:805,0,545
2 79255426 rs383969 G C 1617.45 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=60.0;MQ0=0;QD=32.35;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=REG3G;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000490944 GT:AD:DP:GQ:PL 1/1:0,49:50:99:1650,120,0
2 79312414 rs3739144 G A 1563.52 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;QD=34.74;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=REG1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469052 GT:AD:DP:GQ:PL 1/1:0,45:45:99:1597,117,0
2 79312929 rs59414646 C T 51.75 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.87;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=REG1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469052 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:83,6,0
2 79312982 rs6547221 A C 79.84 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.61;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=REG1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469052 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:112,9,0
2 79313815 rs2073445 G T 1156.12 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=REG1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469052 GT:AD:DP:GQ:PL 1/1:0,34:34:99:1189,99,0
2 79314081 rs6738657 T C 912.71 PASS AB=0.421;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.861;DB;DP=57;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.7303;MQ=59.57;MQ0=0;MQRankSum=0.063;QD=16.01;ReadPosRankSum=-0.569;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=REG1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469052 GT:AD:DP:GQ:PL 0/1:24,33:57:99:943,0,748
2 79314094 rs6723688 G T 1567.52 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9469;MQ=59.97;MQ0=0;QD=31.35;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=REG1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469052 GT:AD:DP:GQ:PL 1/1:0,50:50:99:1601,120,0
2 79314876 rs2073444 C A 218.46 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.41;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=REG1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000305089 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:251,18,0
2 79348129 rs11339710 GA G 154.31 PASS AC=2;AF=1.00;AN=2;DB;DP=20;FS=0.0;HRun=15;HaplotypeScore=122.6979;IndelType=D;MQ=56.4;MQ0=0;QD=7.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=REG1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233735 GT:AD:DP:GQ:PL 1/1:2,14:20:34.60:196,35,0
2 79350186 rs3739142 G A 898.35 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.7887;MQ=58.31;MQ0=0;QD=35.93;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=REG1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461579 GT:AD:DP:GQ:PL 1/1:0,25:25:72.22:931,72,0
2 79350347 rs12228 A G 803.79 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.91;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=REG1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461579 GT:AD:DP:GQ:PL 1/1:0,26:26:60.20:837,60,0
2 79350505 rs12072 C T 116.24 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.06;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=REG1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461579 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:149,12,0
2 79364979 rs892867 G A 206.33 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.39;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=REG1P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000377435 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:239,18,0
2 79386560 rs56413330 G A 472.96 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.112;DB;DP=29;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.416;QD=16.31;ReadPosRankSum=-0.348;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=REG3A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409839 GT:AD:DP:GQ:PL 0/1:12,16:29:99:503,0,376
2 79422965 rs1434199 C G 633.85 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.53;MQ0=0;QD=33.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CTNNA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466387 GT:AD:DP:GQ:PL 1/1:0,19:19:48.16:667,48,0
2 79423062 rs3979543 TTTTG T 301.39 PASS AC=2;AF=1.00;AN=2;DB;DP=9;FS=0.0;HRun=0;HaplotypeScore=44.1932;IndelType=D;MQ=57.23;MQ0=0;QD=33.49;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CTNNA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466387 GT:AD:DP:GQ:PL 1/1:2,7:9:21.07:343,21,0
2 79914570 rs112905811 C CT 163.50 PASS AC=2;AF=1.00;AN=2;DB;DP=8;FS=0.0;HRun=12;HaplotypeScore=86.8861;IndelType=I;MQ=47.12;MQ0=0;QD=20.44;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CTNNA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361291 GT:AD:DP:GQ:PL 1/1:1,6:8:23.68:206,24,0
2 80529956 rs6733871 T C 43.98 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=0.072;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9992;MQ=58.83;MQ0=0;MQRankSum=0.938;QD=2.75;ReadPosRankSum=-1.227;SNPEFF_AMINO_ACID_CHANGE=N330S;SNPEFF_CODON_CHANGE=aAc/aGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_80529003_80531003;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=LRRTM1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000295057 GT:AD:DP:GQ:PL 0/1:12,4:16:73.97:74,0,442
2 80540600 rs17018984 C T 438.69 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.245;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=-2.367;QD=16.25;ReadPosRankSum=0.024;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CTNNA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361291 GT:AD:DP:GQ:PL 0/1:12,15:27:99:469,0,419
2 80801042 rs1344798 T C 48.72 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CTNNA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343114 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:80,6,0
2 80801052 rs6719427 G C 54.05 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.02;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CTNNA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343114 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:85,6,0
2 80801346 rs17019360 T C 2924.89 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.184;DB;DP=96;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=5.4672;MQ=59.08;MQ0=0;MQRankSum=1.695;QD=30.47;ReadPosRankSum=1.585;SNPEFF_AMINO_ACID_CHANGE=V279;SNPEFF_CODON_CHANGE=gtT/gtC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_80801288_80801439;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CTNNA2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000343114 GT:AD:DP:GQ:PL 1/1:1,95:96:99:2958,232,0
2 80809027 rs17019401 C G 32.46 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.684;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.322;QD=3.61;ReadPosRankSum=-1.221;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CTNNA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343114 GT:AD:DP:GQ:PL 0/1:6,3:9:62.45:62,0,189
2 80846147 rs71386643 C CT 226.39 PASS AB=0.732;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.283;DB;DP=30;FS=0.0;HRun=13;HaplotypeScore=240.6228;IndelType=I;MQ=54.37;MQ0=0;MQRankSum=-0.54;QD=7.55;ReadPosRankSum=-0.437;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CTNNA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343114 GT:AD:DP:GQ:PL 0/1:18,10:30:99:265,0,138
2 81421230 rs13030022 C G 819.62 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.064;DB;DP=29;Dels=0.0;FS=3.522;HRun=0;HaplotypeScore=0.9992;MQ=60.0;MQ0=0;MQRankSum=0.578;QD=28.26;ReadPosRankSum=-1.091;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=AC105342.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000378334 GT:AD:DP:GQ:PL 1/1:1,28:29:42.08:853,42,0
2 82112809 rs66550082 A G 1054.80 PASS AB=0.464;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.608;DB;DP=69;Dels=0.0;FS=4.861;HRun=1;HaplotypeScore=0.9665;MQ=59.67;MQ0=0;MQRankSum=-1.096;QD=15.29;ReadPosRankSum=-1.194;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AC105419.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408780 GT:AD:DP:GQ:PL 0/1:32,37:69:99:1085,0,1030
2 82113089 rs12714061 T C 39.26 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=19.63;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AC105419.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408780 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:71,6,0
2 83083845 rs1420755 C T 180.27 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.312;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=58.55;MQ0=0;MQRankSum=1.093;QD=13.87;ReadPosRankSum=0.555;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=AC098817.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342938 GT:AD:DP:GQ:PL 0/1:7,6:13:99:210,0,246
2 84517811 . C T 138.44 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.495;DP=7;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.198;QD=19.78;ReadPosRankSum=-0.922;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_processed_pseudogene;SNPEFF_GENE_NAME=FUNDC2P2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331369 GT:AD:DP:GQ:PL 0/1:2,5:7:64.59:168,0,65
2 84518438 rs1968722 T C 1538.33 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.59;MQ0=0;QD=34.19;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_processed_pseudogene;SNPEFF_GENE_NAME=FUNDC2P2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443452 GT:AD:DP:GQ:PL 1/1:0,45:45:99:1571,120,0
2 84650707 rs2832 A G 114.52 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.63;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SUCLG1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000487809 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:147,12,0
2 84652653 rs113840224 G A 1801.86 PASS AB=0.511;AC=1;AF=0.50;AN=2;BaseQRankSum=3.512;DB;DP=131;Dels=0.0;FS=4.238;HRun=0;HaplotypeScore=3.6386;MQ=59.83;MQ0=0;MQRankSum=0.384;QD=13.65;ReadPosRankSum=-0.026;SNPEFF_AMINO_ACID_CHANGE=A300;SNPEFF_CODON_CHANGE=gcC/gcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_84652539_84652727;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SUCLG1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000393868 GT:AD:DP:GQ:PL 0/1:67,64:131:99:1832,0,1966
2 84755996 rs113333424 A ATT 658.15 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.069;DB;DP=28;FS=0.0;HRun=11;HaplotypeScore=185.6223;IndelType=I;MQ=60.39;MQ0=0;MQRankSum=1.179;QD=23.51;ReadPosRankSum=-0.485;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=DNAH6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000237449 GT:AD:DP:GQ:PL 1/1:4,15:28:41.51:700,42,0
2 84756049 rs4832089 G A 1638.44 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=60.22;MQ0=0;QD=32.77;SNPEFF_AMINO_ACID_CHANGE=V141M;SNPEFF_CODON_CHANGE=Gtg/Atg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_84756028_84756290;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=DNAH6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000237449 GT:AD:DP:GQ:PL 1/1:0,50:50:99:1671,129,0
2 84756341 rs4832090 T G 971.66 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.99;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=DNAH6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000237449 GT:AD:DP:GQ:PL 1/1:0,27:27:75.24:1005,75,0
2 84756450 rs4832091 C A 34.68 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.34;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=DNAH6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000237449 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:66,6,0
2 84771480 rs1037863 G A 2295.47 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.63;SNPEFF_AMINO_ACID_CHANGE=L262;SNPEFF_CODON_CHANGE=ctG/ctA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_84771357_84771624;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=DNAH6;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000237449 GT:AD:DP:GQ:PL 1/1:0,61:61:99:2328,169,0
2 84771567 rs1542477 C T 1559 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.52;MQ0=0;QD=32.48;SNPEFF_AMINO_ACID_CHANGE=S291;SNPEFF_CODON_CHANGE=tcC/tcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_84771357_84771624;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=DNAH6;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000237449 GT:AD:DP:GQ:PL 1/1:0,48:48:99:1592,117,0
2 84774893 rs12474026 G A 367.58 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.63;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=DNAH6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468661 GT:AD:DP:GQ:PL 1/1:0,11:12:33.10:401,33,0
2 84800605 rs11891970 C A 2537.40 PASS AC=2;AF=1.00;AN=2;DB;DP=74;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9989;MQ=59.69;MQ0=0;QD=34.29;SNPEFF_AMINO_ACID_CHANGE=A606;SNPEFF_CODON_CHANGE=gcC/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_84800591_84800711;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=DNAH6;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000237449 GT:AD:DP:GQ:PL 1/1:0,74:74:99:2570,190,0
2 84806553 rs6547569 G A 639.12 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.71;MQ0=0;QD=35.51;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=DNAH6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000237449 GT:AD:DP:GQ:PL 1/1:0,18:18:51.16:672,51,0
2 84822549 rs12466574 G A 52.75 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=DNAH6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000237449 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
2 84822715 rs6761632 C T 1042.71 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.96;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=DNAH6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000237449 GT:AD:DP:GQ:PL 1/1:0,29:29:81.27:1076,81,0
2 84831767 rs7570369 G A 170.59 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.43;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=DNAH6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000237449 GT:AD:DP:GQ:PL 1/1:0,5:6:15.05:203,15,0
2 84833884 rs10193468 G T 79.20 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.4;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=DNAH6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000237449 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:111,9,0
2 84834063 rs4276039 T C 2777.85 PASS AC=2;AF=1.00;AN=2;DB;DP=78;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;QD=35.61;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=DNAH6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000237449 GT:AD:DP:GQ:PL 1/1:0,78:78:99:2811,211,0
2 84834237 rs4441485 T C 2332.28 PASS AC=2;AF=1.00;AN=2;DB;DP=73;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.95;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=DNAH6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000237449 GT:AD:DP:GQ:PL 1/1:0,73:73:99:2365,193,0
2 84834375 rs4240194 C T 241.05 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.44;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=DNAH6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000237449 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:274,21,0
2 84834396 rs4240195 T A 111.48 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=DNAH6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000237449 GT:AD:DP:GQ:PL 1/1:0,4:4:12.02:144,12,0
2 84834404 rs4240196 T C 88.36 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.45;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=DNAH6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000237449 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:120,9,0
2 84861729 rs61730451 G A 1954.91 PASS AB=0.472;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.711;DB;DP=127;Dels=0.01;FS=0.666;HRun=1;HaplotypeScore=4.1581;MQ=59.64;MQ0=0;MQRankSum=-0.445;QD=15.27;ReadPosRankSum=1.08;SNPEFF_AMINO_ACID_CHANGE=Q1539;SNPEFF_CODON_CHANGE=caG/caA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_84861628_84861765;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=DNAH6;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000237449 GT:AD:DP:GQ:PL 0/1:60,67:127:99:1985,0,1746
2 84897361 rs12470102 T A 376.96 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.09;MQ0=0;QD=34.27;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=DNAH6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000237449 GT:AD:DP:GQ:PL 1/1:0,11:11:30.10:410,30,0
2 84897517 rs1881095 A G 2120.44 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.564;MQ=59.23;MQ0=0;QD=35.34;SNPEFF_AMINO_ACID_CHANGE=L2124;SNPEFF_CODON_CHANGE=ctA/ctG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_84897452_84897599;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=DNAH6;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000237449 GT:AD:DP:GQ:PL 1/1:0,60:60:99:2153,163,0
2 84899360 rs4832106 G A 558.36 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.22;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=DNAH6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000237449 GT:AD:DP:GQ:PL 1/1:0,15:15:45.14:591,45,0
2 84899761 rs4831983 C G 168.01 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.6;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=DNAH6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000237449 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:201,15,0
2 84915469 rs41490447 A T 518.27 PASS AB=0.423;AC=1;AF=0.50;AN=2;BaseQRankSum=1.661;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.778;QD=19.93;ReadPosRankSum=0.519;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=DNAH6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000237449 GT:AD:DP:GQ:PL 0/1:11,15:26:99:548,0,377
2 84924823 rs78190897 T C 882.54 PASS AB=0.372;AC=1;AF=0.50;AN=2;BaseQRankSum=2.701;DB;DP=43;Dels=0.0;FS=3.154;HRun=0;HaplotypeScore=0.8667;MQ=59.46;MQ0=0;MQRankSum=-0.188;QD=20.52;ReadPosRankSum=-0.239;SNPEFF_AMINO_ACID_CHANGE=V2501A;SNPEFF_CODON_CHANGE=gTa/gCa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_84924699_84924914;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=DNAH6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000398278 GT:AD:DP:GQ:PL 0/1:16,27:43:99:913,0,485
2 84940477 rs4832108 T C 402.40 PASS AB=0.464;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.823;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.244;QD=14.37;ReadPosRankSum=0.276;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=DNAH6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000237449 GT:AD:DP:GQ:PL 0/1:13,15:28:99:432,0,431
2 84945679 rs1192343 C T 45.01 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=1.221;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.322;QD=5.63;ReadPosRankSum=-1.221;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=DNAH6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000237449 GT:AD:DP:GQ:PL 0/1:5,3:8:75:75,0,159
2 85143406 rs9678007 A T 473.07 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=44.33;MQ0=0;QD=31.54;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=pseudogene;SNPEFF_GENE_NAME=AC022210.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000393863 GT:AD:DP:GQ:PL 1/1:0,14:15:42.08:506,42,0
2 85143835 rs35792004 A T 102.91 PASS AB=0.385;AC=1;AF=0.50;AN=2;BaseQRankSum=2.367;DB;DP=13;Dels=0.0;FS=0.0;HRun=6;HaplotypeScore=0.0;MQ=56.83;MQ0=0;MQRankSum=0.244;QD=7.92;ReadPosRankSum=-0.529;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=pseudogene;SNPEFF_GENE_NAME=AC022210.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000393863 GT:AD:DP:GQ:PL 0/1:5,8:13:99:133,0,173
2 85510777 rs7574856 A G 612.51 PASS AB=0.551;AC=1;AF=0.50;AN=2;BaseQRankSum=3.588;DB;DP=49;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.53;MQ0=0;MQRankSum=-0.573;QD=12.5;ReadPosRankSum=-1.759;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TCF7L1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282111 GT:AD:DP:GQ:PL 0/1:27,22:49:99:643,0,891
2 85526399 rs10184914 G A 649.62 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.613;DB;DP=38;Dels=0.0;FS=3.01;HRun=0;HaplotypeScore=0.9992;MQ=60.0;MQ0=0;MQRankSum=-0.642;QD=17.1;ReadPosRankSum=1.051;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TCF7L1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282111 GT:AD:DP:GQ:PL 0/1:19,19:38:99:680,0,642
2 85532205 rs6741339 C G 97.50 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.876;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.361;QD=10.83;ReadPosRankSum=0.361;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TCF7L1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000442813 GT:AD:DP:GQ:PL 0/1:5,4:9:99:127,0,178
2 85533227 rs2271629 G A 275.18 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.472;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.706;QD=15.29;ReadPosRankSum=-0.618;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TCF7L1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000442813 GT:AD:DP:GQ:PL 0/1:9,9:18:99:305,0,225
2 85542686 rs7608881 G C 528.06 PASS AB=0.425;AC=1;AF=0.50;AN=2;BaseQRankSum=1.493;DB;DP=40;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.448;QD=13.2;ReadPosRankSum=-1.672;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TGOLN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282120 GT:AD:DP:GQ:PL 0/1:17,23:40:99:558,0,416
2 85542718 rs7608892 G A 594 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.467;DB;DP=38;Dels=0.0;FS=4.492;HRun=0;HaplotypeScore=0.0;MQ=59.51;MQ0=0;MQRankSum=-0.671;QD=15.63;ReadPosRankSum=0.934;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TGOLN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282120 GT:AD:DP:GQ:PL 0/1:19,19:38:99:624,0,592
2 85542814 . T G 112.36 QDFilter2 AB=0.441;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.182;DP=59;Dels=0.0;FS=47.863;HRun=2;HaplotypeScore=3.5365;MQ=57.33;MQ0=0;MQRankSum=-0.839;QD=1.9;ReadPosRankSum=2.608;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TGOLN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282120 GT:AD:DP:GQ:PL 0/1:26,33:59:99:142,0,858
2 85543064 rs4446071 T C 287.22 PASS AB=0.567;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.469;DB;DP=30;Dels=0.0;FS=4.505;HRun=0;HaplotypeScore=0.9469;MQ=59.23;MQ0=0;MQRankSum=1.59;QD=9.57;ReadPosRankSum=-0.544;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TGOLN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282120 GT:AD:DP:GQ:PL 0/1:17,13:30:99:317,0,559
2 85543222 rs4599108 C T 119.17 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=0.933;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9983;MQ=54.43;MQ0=0;MQRankSum=-0.667;QD=8.51;ReadPosRankSum=-0.133;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TGOLN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282120 GT:AD:DP:GQ:PL 0/1:9,5:14:99:149,0,241
2 85549868 rs4240199 A G 1811.12 PASS AB=0.459;AC=1;AF=0.50;AN=2;BaseQRankSum=0.927;DB;DP=122;Dels=0.0;FS=6.944;HRun=4;HaplotypeScore=0.6651;MQ=59.81;MQ0=0;MQRankSum=-0.347;QD=14.85;ReadPosRankSum=-0.388;SNPEFF_AMINO_ACID_CHANGE=*455Q;SNPEFF_CODON_CHANGE=Taa/Caa;SNPEFF_EFFECT=STOP_LOST;SNPEFF_EXON_ID=exon_2_85549017_85549922;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TGOLN2;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000409015 GT:AD:DP:GQ:PL 0/1:56,66:122:99:1841,0,1658
2 85553784 rs1044973 C T 1992.14 PASS AB=0.454;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.235;DB;DP=130;Dels=0.0;FS=0.658;HRun=1;HaplotypeScore=1.8237;MQ=59.47;MQ0=0;MQRankSum=-0.697;QD=15.32;ReadPosRankSum=-0.145;SNPEFF_AMINO_ACID_CHANGE=G201;SNPEFF_CODON_CHANGE=ggG/ggA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_85553631_85553927;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TGOLN2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000282120 GT:AD:DP:GQ:PL 0/1:59,71:130:99:2022,0,1841
2 85554885 rs57481159 G A 67.57 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.754;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.05;MQ0=0;MQRankSum=0.55;QD=8.45;ReadPosRankSum=-0.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TGOLN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282120 GT:AD:DP:GQ:PL 0/1:4,4:8:97.57:98,0,139
2 85571710 rs4832171 A G 468.47 PASS AB=0.642;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.983;DB;DP=53;Dels=0.0;FS=2.564;HRun=0;HaplotypeScore=0.9789;MQ=60.0;MQ0=0;MQRankSum=0.247;QD=8.84;ReadPosRankSum=0.798;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=RETSAT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263854 GT:AD:DP:GQ:PL 0/1:34,19:53:99:498,0,966
2 85590286 rs7564372 C T 370.36 PASS AB=0.481;AC=1;AF=0.50;AN=2;BaseQRankSum=2.208;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.218;QD=13.72;ReadPosRankSum=0.315;SNPEFF_AMINO_ACID_CHANGE=R66C;SNPEFF_CODON_CHANGE=Cgt/Tgt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_85590220_85590289;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ELMOD3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000315658 GT:AD:DP:GQ:PL 0/1:13,14:27:99:400,0,318
2 85622059 rs6886 T C 161.74 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.621;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.666;QD=8.99;ReadPosRankSum=-1.733;SNPEFF_AMINO_ACID_CHANGE=H314R;SNPEFF_CODON_CHANGE=cAt/cGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_85621346_85622081;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAPG;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000542681 GT:AD:DP:GQ:PL 0/1:10,8:18:99:192,0,325
2 85625439 rs11687035 T G 161.18 PASS AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=26.86;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAPG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409275 GT:AD:DP:GQ:PL 0/1:1,5:6:21.25:191,0,21
2 85662650 rs6547618 A G 383.44 PASS AB=0.561;AC=1;AF=0.50;AN=2;BaseQRankSum=0.285;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=59.44;MQ0=0;MQRankSum=-0.612;QD=9.35;ReadPosRankSum=0.014;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SH2D6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340326 GT:AD:DP:GQ:PL 0/1:23,18:41:99:413,0,732
2 85663520 rs4832173 A C 204.47 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.656;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.347;QD=10.22;ReadPosRankSum=0.579;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SH2D6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340326 GT:AD:DP:GQ:PL 0/1:12,8:20:99:234,0,356
2 85769246 rs1078005 G A 1350.66 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.51;MQ0=0;QD=35.54;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAT2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465151 GT:AD:DP:GQ:PL 1/1:0,38:38:99:1384,108,0
2 85781318 rs1254896 T G 4708.48 PASS AC=2;AF=1.00;AN=2;DB;DP=138;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.67;MQ0=0;QD=34.12;SNPEFF_AMINO_ACID_CHANGE=G222;SNPEFF_CODON_CHANGE=ggA/ggC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_85781266_85781429;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GGCX;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000430215 GT:AD:DP:GQ:PL 1/1:0,138:138:99:4708,343,0
2 85788140 rs1254898 C T 1138.67 PASS AB=0.44;AC=1;AF=0.50;AN=2;BaseQRankSum=5.209;DB;DP=75;Dels=0.0;FS=7.703;HRun=0;HaplotypeScore=1.4105;MQ=60.0;MQ0=0;MQRankSum=0.946;QD=15.18;ReadPosRankSum=0.859;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GGCX;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233838 GT:AD:DP:GQ:PL 0/1:33,42:75:99:1169,0,964
2 85807081 . AT A 39.44 QDFilter2 AB=0.761;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.179;DP=35;FS=0.0;HRun=16;HaplotypeScore=253.6668;IndelType=D;MQ=56.25;MQ0=0;MQRankSum=-0.835;QD=1.13;ReadPosRankSum=-1.67;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VAMP8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263864 GT:AD:DP:GQ:PL 0/1:22,9:35:78.47:78,0,286
2 85819975 rs115723319 G A 485.84 PASS AB=0.432;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.168;DB;DP=37;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.933;MQ=56.15;MQ0=0;MQRankSum=-0.408;QD=13.13;ReadPosRankSum=0.983;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VAMP5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000306384 GT:AD:DP:GQ:PL 0/1:16,21:37:99:516,0,291
2 85848747 rs67550241 CT C 66.76 PASS AB=0.73;AC=1;AF=0.50;AN=2;BaseQRankSum=0.053;DB;DP=27;FS=0.0;HRun=15;HaplotypeScore=195.2301;IndelType=D;MQ=55.96;MQ0=0;MQRankSum=1.418;QD=2.47;ReadPosRankSum=1.103;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=USP39;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474572 GT:AD:DP:GQ:PL 0/1:17,10:27:99:106,0,163
2 85863394 rs4416212 C T 198.66 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=2.475;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=2.285;QD=14.19;ReadPosRankSum=-0.225;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=USP39;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000323701 GT:AD:DP:GQ:PL 0/1:6,8:14:99:229,0,182
2 85874922 rs114783427 C T 47.39 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.69;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=USP39;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000493829 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
2 85890771 rs893159 T G 74.35 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=18.59;ReadPosRankSum=0.727;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SFTPB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473692 GT:AD:DP:GQ:PL 0/1:1,3:4:30.19:104,0,30
2 85893741 rs1130866 G A 504.57 PASS AB=0.419;AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DB;DP=31;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.73;MQ0=0;MQRankSum=-0.952;QD=16.28;ReadPosRankSum=0.288;SNPEFF_AMINO_ACID_CHANGE=T131I;SNPEFF_CODON_CHANGE=aCt/aTt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_85893740_85893865;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SFTPB;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000342375 GT:AD:DP:GQ:PL 0/1:13,18:31:99:535,0,369
2 85894308 rs3024798 G T 438.83 PASS AB=0.575;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.025;DB;DP=40;Dels=0.0;FS=4.977;HRun=0;HaplotypeScore=2.2771;MQ=60.0;MQ0=0;MQRankSum=0.156;QD=10.97;ReadPosRankSum=-0.042;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SFTPB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342375 GT:AD:DP:GQ:PL 0/1:23,17:40:99:469,0,735
2 85921389 rs1866139 G C 117.82 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=0.322;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.322;QD=14.73;ReadPosRankSum=0.322;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=GNLY;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000488945 GT:AD:DP:GQ:PL 0/1:3,5:8:99:148,0,102
2 85921992 rs2043760 T C 76.50 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=6.021;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=19.12;ReadPosRankSum=-0.727;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_2_85921876_85922119;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=GNLY;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000409696 GT:AD:DP:GQ:PL 0/1:1,3:4:28.61:106,0,29
2 85924729 rs11127 C T 420.57 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.231;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.11;MQ0=0;MQRankSum=0.489;QD=16.18;ReadPosRankSum=-1.363;SNPEFF_AMINO_ACID_CHANGE=T104I;SNPEFF_CODON_CHANGE=aCc/aTc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_85924629_85924800;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=GNLY;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000409696 GT:AD:DP:GQ:PL 0/1:12,14:26:99:451,0,374
2 85924899 rs1437742 T A 96.12 PASS AB=0.692;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.774;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.62;QD=7.39;ReadPosRankSum=0.849;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=GNLY;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464298 GT:AD:DP:GQ:PL 0/1:9,4:13:99:126,0,327
2 85925529 rs4240200 A G 131.11 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.025;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.521;QD=8.74;ReadPosRankSum=-0.984;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=GNLY;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464298 GT:AD:DP:GQ:PL 0/1:8,7:15:99:161,0,299
2 85925667 rs4240201 G A 971.28 PASS AB=0.486;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.698;DB;DP=72;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.74;MQ0=0;MQRankSum=0.27;QD=13.49;ReadPosRankSum=-0.742;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=GNLY;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464298 GT:AD:DP:GQ:PL 0/1:35,37:72:99:1001,0,990
2 85925680 rs4240202 T G 952.79 PASS AB=0.514;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.005;DB;DP=72;Dels=0.0;FS=4.616;HRun=0;HaplotypeScore=1.6208;MQ=59.74;MQ0=0;MQRankSum=0.034;QD=13.23;ReadPosRankSum=-0.518;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=GNLY;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464298 GT:AD:DP:GQ:PL 0/1:37,35:72:99:983,0,999
2 85925756 rs7908 C G 365.44 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.988;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.33;MQ0=0;MQRankSum=1.539;QD=13.05;ReadPosRankSum=-0.988;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=GNLY;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464298 GT:AD:DP:GQ:PL 0/1:14,14:28:99:395,0,471
2 85925848 rs12845 C G 40.54 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9999;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=13.51;ReadPosRankSum=-0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=GNLY;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464298 GT:AD:DP:GQ:PL 0/1:1,2:3:27.95:71,0,28
2 85981761 rs17851881 T C 58.41 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.001;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.573;QD=5.84;ReadPosRankSum=-1.001;SNPEFF_AMINO_ACID_CHANGE=L150P;SNPEFF_CODON_CHANGE=cTg/cCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_85981017_85982080;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ATOH8;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000306279 GT:AD:DP:GQ:PL 0/1:6,3:10:88.40:88,0,220
2 86107840 rs11127008 G A 574.08 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.88;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ST3GAL5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000377332 GT:AD:DP:GQ:PL 1/1:0,16:16:45.15:607,45,0
2 86107951 rs113435928 GA G 1624.52 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.841;DB;DP=76;FS=9.42;HRun=11;HaplotypeScore=416.9062;IndelType=D;MQ=61.65;MQ0=0;MQRankSum=0.396;QD=21.38;ReadPosRankSum=-0.297;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ST3GAL5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000377332 GT:AD:DP:GQ:PL 1/1:4,72:76:99:1667,178,0
2 86107987 rs11127009 T C 3971.42 PASS AC=2;AF=1.00;AN=2;DB;DP=118;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9987;MQ=60.89;MQ0=0;QD=33.66;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ST3GAL5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000377332 GT:AD:DP:GQ:PL 1/1:0,116:118:99:3971,304,0
2 86108218 rs6751743 T C 574.75 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.25;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ST3GAL5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000377332 GT:AD:DP:GQ:PL 1/1:0,19:19:54.13:608,54,0
2 86108254 rs12463901 T G 272.63 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.08;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ST3GAL5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000377332 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:306,24,0
2 86259443 rs2276626 C T 803.52 PASS AB=0.547;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.79;DB;DP=75;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9159;MQ=59.69;MQ0=0;MQRankSum=0.726;QD=10.71;ReadPosRankSum=0.36;SNPEFF_AMINO_ACID_CHANGE=G1408;SNPEFF_CODON_CHANGE=ggG/ggA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_86259395_86259505;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POLR1A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000263857 GT:AD:DP:GQ:PL 0/1:41,34:75:99:834,0,1287
2 86266274 rs2289237 C G 110.39 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.55;QD=15.77;ReadPosRankSum=-0.55;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POLR1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462078 GT:AD:DP:GQ:PL 0/1:3,4:7:99:140,0,106
2 86272758 rs1561328 G A 1849.86 PASS AB=0.559;AC=1;AF=0.50;AN=2;BaseQRankSum=2.87;DB;DP=152;Dels=0.0;FS=0.623;HRun=1;HaplotypeScore=4.4444;MQ=59.21;MQ0=0;MQRankSum=-1.254;QD=12.17;ReadPosRankSum=0.401;SNPEFF_AMINO_ACID_CHANGE=L956;SNPEFF_CODON_CHANGE=ctC/ctT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_86272740_86272892;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POLR1A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000263857 GT:AD:DP:GQ:PL 0/1:85,67:152:99:1880,0,2313
2 86280058 rs35625755 G A 164.58 PASS AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.545;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.53;MQ0=0;MQRankSum=0.545;QD=8.66;ReadPosRankSum=0.068;SNPEFF_AMINO_ACID_CHANGE=A758;SNPEFF_CODON_CHANGE=gcC/gcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_86279940_86280123;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POLR1A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000263857 GT:AD:DP:GQ:PL 0/1:10,9:19:99:195,0,209
2 86292656 rs311563 C T 239.44 PASS AB=0.64;AC=1;AF=0.50;AN=2;BaseQRankSum=2.349;DB;DP=25;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.13;MQ0=0;MQRankSum=0.311;QD=9.58;ReadPosRankSum=0.425;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POLR1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263857 GT:AD:DP:GQ:PL 0/1:16,9:25:99:269,0,458
2 86304934 rs72010138 GCACACACACACA G 503.87 PASS AC=2;AF=1.00;AN=2;DB;DP=24;FS=0.0;HRun=0;HaplotypeScore=347.6413;IndelType=D;MQ=46.71;MQ0=0;QD=20.99;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POLR1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000424089 GT:AD:DP:GQ:PL 1/1:18,5:24:26.99:546,27,0
2 86305123 rs2288117 T C 2149.01 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.41;MQ0=0;QD=32.56;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POLR1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000424089 GT:AD:DP:GQ:PL 1/1:0,66:66:99:2182,166,0
2 86305534 rs74607112 T C 80.47 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.82;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POLR1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409024 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:113,9,0
2 86307884 rs138721680 CAG C 228.19 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=3.204;DB;DP=14;FS=0.0;HRun=0;HaplotypeScore=45.5745;IndelType=D;MQ=60.77;MQ0=0;MQRankSum=0.545;QD=16.3;ReadPosRankSum=-0.545;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POLR1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409024 GT:AD:DP:GQ:PL 0/1:7,7:14:99:267,0,351
2 86310110 rs2288118 C T 138.82 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.67;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.154;QD=9.92;ReadPosRankSum=-2.067;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POLR1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409024 GT:AD:DP:GQ:PL 0/1:7,7:14:99:169,0,253
2 86315526 rs2288119 T C 40.37 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.026;QD=10.09;ReadPosRankSum=-1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POLR1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263857 GT:AD:DP:GQ:PL 0/1:2,2:4:70.37:70,0,71
2 86315741 rs2288120 C T 821.36 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=2.493;DB;DP=63;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9332;MQ=60.0;MQ0=0;MQRankSum=0.41;QD=13.04;ReadPosRankSum=-0.771;SNPEFF_AMINO_ACID_CHANGE=T226;SNPEFF_CODON_CHANGE=acG/acA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_86315689_86315792;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POLR1A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000263857 GT:AD:DP:GQ:PL 0/1:36,27:63:99:851,0,1088
2 86316834 rs2288121 G T 56.87 PASS AB=0.727;AC=1;AF=0.50;AN=2;BaseQRankSum=0.382;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.87;MQ0=0;MQRankSum=0.715;QD=5.17;ReadPosRankSum=0.715;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POLR1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263857 GT:AD:DP:GQ:PL 0/1:8,3:11:86.86:87,0,281
2 86317037 rs4832242 G C 503.17 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=0.457;DB;DP=48;Dels=0.0;FS=3.206;HRun=0;HaplotypeScore=0.5784;MQ=59.03;MQ0=0;MQRankSum=1.164;QD=10.48;ReadPosRankSum=1.351;SNPEFF_AMINO_ACID_CHANGE=P150A;SNPEFF_CODON_CHANGE=Ccc/Gcc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_86316945_86317052;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POLR1A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000263857 GT:AD:DP:GQ:PL 0/1:27,21:48:99:533,0,846
2 86326133 rs11127015 A G 45.13 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.57;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POLR1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263857 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:76,6,0
2 86332809 rs4832245 G A 190.85 PASS AB=0.696;AC=1;AF=0.50;AN=2;BaseQRankSum=3.245;DB;DP=23;Dels=0.0;FS=2.315;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.709;QD=8.3;ReadPosRankSum=0.037;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POLR1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263857 GT:AD:DP:GQ:PL 0/1:16,7:23:99:221,0,360
2 86335718 rs979940 G A 4347.90 PASS AC=2;AF=1.00;AN=2;DB;DP=116;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.88;MQ0=0;QD=37.48;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTCD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000254630 GT:AD:DP:GQ:PL 1/1:0,116:116:99:4348,325,0
2 86343476 rs4832022 C A 78.07 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9997;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=15.61;ReadPosRankSum=1.231;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTCD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000488801 GT:AD:DP:GQ:PL 0/1:2,3:5:65.60:108,0,66
2 86343494 rs4832248 G A 105.32 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.937;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.937;QD=15.05;ReadPosRankSum=0.937;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTCD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000488801 GT:AD:DP:GQ:PL 0/1:3,4:7:99:135,0,99
2 86344367 rs2059353 T C 215.88 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.98;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTCD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409326 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:249,18,0
2 86346180 rs2303339 G A 1030.30 PASS AB=0.478;AC=1;AF=0.50;AN=2;BaseQRankSum=1.362;DB;DP=67;Dels=0.0;FS=2.348;HRun=1;HaplotypeScore=2.5515;MQ=59.44;MQ0=0;MQRankSum=0.257;QD=15.38;ReadPosRankSum=1.462;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTCD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409326 GT:AD:DP:GQ:PL 0/1:32,35:67:99:1060,0,1026
2 86346308 rs6715623 G A 657.18 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.62;MQ0=0;QD=38.66;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTCD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409326 GT:AD:DP:GQ:PL 1/1:0,17:17:51.17:690,51,0
2 86352010 rs4832250 G T 108.45 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=18.07;ReadPosRankSum=0.72;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTCD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409783 GT:AD:DP:GQ:PL 0/1:2,4:6:64.59:138,0,65
2 86352785 rs4618054 G A 180.66 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=0.143;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.717;QD=16.42;ReadPosRankSum=-1.749;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTCD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409783 GT:AD:DP:GQ:PL 0/1:5,6:11:99:211,0,176
2 86352825 rs6740228 C T 62.65 PASS AB=0.727;AC=1;AF=0.50;AN=2;BaseQRankSum=0.566;DB;DP=11;Dels=0.0;FS=3.09;HRun=1;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=-0.382;QD=5.7;ReadPosRankSum=1.931;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTCD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409783 GT:AD:DP:GQ:PL 0/1:8,3:11:92.64:93,0,293
2 86359405 rs1559515 G T 214.90 PASS AB=0.593;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.16;DB;DP=27;Dels=0.0;FS=5.78;HRun=1;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=-0.716;QD=7.96;ReadPosRankSum=0.173;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTCD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000480102 GT:AD:DP:GQ:PL 0/1:16,11:27:99:245,0,540
2 86360573 rs2241437 T G 600.82 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.904;DB;DP=65;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9998;MQ=59.65;MQ0=0;MQRankSum=0.222;QD=9.24;ReadPosRankSum=-0.991;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTCD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464541 GT:AD:DP:GQ:PL 0/1:40,25:65:99:631,0,1301
2 86362204 rs7606421 C T 568.32 PASS AB=0.406;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.532;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.381;QD=17.76;ReadPosRankSum=-0.038;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTCD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464541 GT:AD:DP:GQ:PL 0/1:13,19:32:99:598,0,403
2 86363074 rs3770069 A G 311.30 PASS AB=0.552;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.513;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.153;QD=10.73;ReadPosRankSum=-0.022;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTCD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464541 GT:AD:DP:GQ:PL 0/1:16,13:29:99:341,0,438
2 86363855 rs7558040 G C 324.50 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.21;MQ0=0;QD=32.45;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTCD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464541 GT:AD:DP:GQ:PL 1/1:0,10:10:27.09:357,27,0
2 86364706 rs111951768 TG T 1061.54 PASS AC=2;AF=1.00;AN=2;DB;DP=30;FS=0.0;HRun=3;HaplotypeScore=82.8165;IndelType=D;MQ=58.14;MQ0=0;QD=35.38;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTCD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464541 GT:AD:DP:GQ:PL 1/1:0,30:30:90.28:1104,90,0
2 86385728 rs1131071 C T 453.37 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.064;DB;DP=54;Dels=0.0;FS=1.147;HRun=0;HaplotypeScore=2.5219;MQ=60.0;MQ0=0;MQRankSum=-0.761;QD=8.4;ReadPosRankSum=0.982;SNPEFF_AMINO_ACID_CHANGE=G284;SNPEFF_CODON_CHANGE=ggG/ggA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_86385715_86385844;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IMMT;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000254636 GT:AD:DP:GQ:PL 0/1:36,18:54:99:483,0,1139
2 86385886 rs6739460 A G 862.24 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.16;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IMMT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409258 GT:AD:DP:GQ:PL 1/1:0,26:26:69.22:895,69,0
2 86393521 . TA T 926.86 PASS AB=0.614;AC=1;AF=0.50;AN=2;BaseQRankSum=4.615;DP=43;FS=4.367;HRun=1;HaplotypeScore=128.589;IndelType=D;MQ=59.97;MQ0=0;MQRankSum=1.123;QD=21.55;ReadPosRankSum=0.501;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IMMT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460081 GT:AD:DP:GQ:PL 0/1:16,27:43:99:966,0,597
2 86400703 . C CA 88.29 PASS AB=0.794;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.039;DP=27;FS=0.0;HRun=13;HaplotypeScore=124.148;IndelType=I;MQ=57.81;MQ0=0;MQRankSum=-0.193;QD=3.27;ReadPosRankSum=0.887;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IMMT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000254636 GT:AD:DP:GQ:PL 0/1:19,6:27:99:127,0,175
2 86400824 rs1050301 G A 1585.57 PASS AB=0.459;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.909;DB;DP=98;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.53;MQ0=0;MQRankSum=-0.88;QD=16.18;ReadPosRankSum=2.649;SNPEFF_AMINO_ACID_CHANGE=P124S;SNPEFF_CODON_CHANGE=Cct/Tct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_86400773_86400884;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IMMT;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000377310 GT:AD:DP:GQ:PL 0/1:45,53:98:99:1616,0,1320
2 86406556 rs17027011 C T 965.99 PASS AB=0.529;AC=1;AF=0.50;AN=2;BaseQRankSum=2.625;DB;DP=71;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.5832;MQ=59.02;MQ0=0;MQRankSum=0.919;QD=13.61;ReadPosRankSum=0.691;SNPEFF_AMINO_ACID_CHANGE=S103;SNPEFF_CODON_CHANGE=tcG/tcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_86406556_86406745;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IMMT;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000377310 GT:AD:DP:GQ:PL 0/1:37,33:71:99:996,0,1078
2 86434569 rs9309634 T C 347.93 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.66;MQ0=0;QD=34.79;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MRPL35;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000254644 GT:AD:DP:GQ:PL 1/1:0,10:10:30.10:381,30,0
2 86437551 rs7565645 T G 406.77 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.06;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=REEP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000165698 GT:AD:DP:GQ:PL 1/1:0,14:14:36.11:440,36,0
2 86437898 rs13353 C T 426.72 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.79;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=REEP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000165698 GT:AD:DP:GQ:PL 1/1:0,11:11:33.11:460,33,0
2 86440718 rs11944 T C 91.49 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=0.678;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.034;QD=8.32;ReadPosRankSum=1.769;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MRPL35;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000254644 GT:AD:DP:GQ:PL 0/1:7,4:11:99:121,0,192
2 86478869 rs4832030 A C 101.48 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.421;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.922;QD=12.68;ReadPosRankSum=1.638;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=REEP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000165698 GT:AD:DP:GQ:PL 0/1:4,4:8:99:131,0,135
2 86478902 rs10189492 G A 179.39 PASS AB=0.3;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.666;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.179;QD=17.94;ReadPosRankSum=0.762;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=REEP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000165698 GT:AD:DP:GQ:PL 0/1:3,7:10:59.91:209,0,60
2 86478980 rs4832031 T C 399.45 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.769;DB;DP=28;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.7753;MQ=59.17;MQ0=0;MQRankSum=0.482;QD=14.27;ReadPosRankSum=-1.31;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=REEP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000165698 GT:AD:DP:GQ:PL 0/1:14,14:28:99:429,0,497
2 86479035 rs12988844 A G 1296.68 PASS AB=0.452;AC=1;AF=0.50;AN=2;BaseQRankSum=2.113;DB;DP=73;Dels=0.0;FS=13.142;HRun=1;HaplotypeScore=1.9895;MQ=59.68;MQ0=0;MQRankSum=1.356;QD=17.76;ReadPosRankSum=1.899;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=REEP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000165698 GT:AD:DP:GQ:PL 0/1:33,40:73:99:1327,0,989
2 86479287 rs17438687 G T 378.49 PASS AB=0.214;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.156;DB;DP=14;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.868;QD=27.03;ReadPosRankSum=0.623;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=REEP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000165698 GT:AD:DP:GQ:PL 0/1:3,11:14:72.33:408,0,72
2 86481835 rs2276625 C T 465.43 PASS AB=0.525;AC=1;AF=0.50;AN=2;BaseQRankSum=0.271;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.352;QD=11.64;ReadPosRankSum=-0.325;SNPEFF_AMINO_ACID_CHANGE=T102;SNPEFF_CODON_CHANGE=acG/acA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_86481817_86481937;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=REEP1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000453231 GT:AD:DP:GQ:PL 0/1:21,19:40:99:495,0,620
2 86491245 rs1863056 C T 285.28 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=2.034;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9979;MQ=60.0;MQ0=0;MQRankSum=-1.109;QD=23.77;ReadPosRankSum=-0.185;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=REEP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000165698 GT:AD:DP:GQ:PL 0/1:3,9:12:38.91:315,0,39
2 86509079 rs3821016 T C 256.50 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.06;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=REEP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000165698 GT:AD:DP:GQ:PL 1/1:0,8:8:21.07:289,21,0
2 86509267 rs1863058 G A 1659.98 PASS AB=0.565;AC=1;AF=0.50;AN=2;BaseQRankSum=2.301;DB;DP=138;Dels=0.0;FS=2.234;HRun=0;HaplotypeScore=0.8667;MQ=59.83;MQ0=0;MQRankSum=-1.16;QD=12.03;ReadPosRankSum=-0.572;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=REEP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000165698 GT:AD:DP:GQ:PL 0/1:78,60:138:99:1690,0,2100
2 86509388 rs1863059 T G 1017.33 PASS AB=0.477;AC=1;AF=0.50;AN=2;BaseQRankSum=3.009;DB;DP=65;Dels=0.0;FS=1.485;HRun=0;HaplotypeScore=0.9159;MQ=59.71;MQ0=0;MQRankSum=-0.591;QD=15.65;ReadPosRankSum=-1.263;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=REEP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000165698 GT:AD:DP:GQ:PL 0/1:31,34:65:99:1047,0,968
2 86683642 rs2030259 A G 1149.36 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.23;MQ0=0;QD=33.8;SNPEFF_AMINO_ACID_CHANGE=I160V;SNPEFF_CODON_CHANGE=Ata/Gta;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_86683565_86683689;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KDM3A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000542128 GT:AD:DP:GQ:PL 1/1:0,34:34:87.28:1182,87,0
2 86691250 rs12714187 G A 2379.44 PASS AC=2;AF=1.00;AN=2;DB;DP=71;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;QD=33.51;SNPEFF_AMINO_ACID_CHANGE=A254;SNPEFF_CODON_CHANGE=gcG/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_86691176_86691339;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KDM3A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000542128 GT:AD:DP:GQ:PL 1/1:0,71:71:99:2412,178,0
2 86705565 rs2292887 T C 65.96 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=1.3;DB;DP=7;Dels=0.0;FS=3.136;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.55;QD=9.42;ReadPosRankSum=1.754;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KDM3A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485171 GT:AD:DP:GQ:PL 0/1:4,3:7:95.95:96,0,131
2 86707313 rs61748134 G A 1183.82 PASS AB=0.488;AC=1;AF=0.50;AN=2;BaseQRankSum=3.057;DB;DP=82;Dels=0.0;FS=3.007;HRun=1;HaplotypeScore=1.8519;MQ=57.42;MQ0=0;MQRankSum=-0.422;QD=14.44;ReadPosRankSum=0.097;SNPEFF_AMINO_ACID_CHANGE=P728;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_86707290_86707485;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KDM3A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000542128 GT:AD:DP:GQ:PL 0/1:40,42:82:99:1214,0,976
2 86707504 rs4832290 T C 596.93 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.85;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KDM3A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000312912 GT:AD:DP:GQ:PL 1/1:0,20:20:51.16:630,51,0
2 86716919 rs75816635 A G 31.27 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9979;MQ=60.0;MQ0=0;MQRankSum=0.72;QD=5.21;ReadPosRankSum=1.38;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KDM3A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462197 GT:AD:DP:GQ:PL 0/1:4,2:6:61.26:61,0,148
2 86734778 rs3731811 C T 1916.51 PASS AB=0.528;AC=1;AF=0.50;AN=2;BaseQRankSum=0.444;DB;DP=143;DS;Dels=0.0;FS=1.573;HRun=0;HaplotypeScore=0.7887;MQ=59.68;MQ0=0;MQRankSum=-1.587;QD=13.4;ReadPosRankSum=-0.105;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RNF103-VPS24;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000440757 GT:AD:DP:GQ:PL 0/1:75,67:143:99:1946,0,2116
2 86737334 rs2276624 A G 40.84 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=10.21;ReadPosRankSum=1.026;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RNF103-VPS24;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000440757 GT:AD:DP:GQ:PL 0/1:2,2:4:70.84:71,0,73
2 86737649 rs966477 G A 930.39 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.08;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RNF103-VPS24;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000440757 GT:AD:DP:GQ:PL 1/1:0,29:29:72.23:963,72,0
2 86756209 rs1036940 C G 386.37 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.64;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RNF103-VPS24;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000440757 GT:AD:DP:GQ:PL 1/1:0,10:10:30.10:419,30,0
2 86756280 rs9284788 G A 495.76 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=3.23;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=-0.087;QD=23.61;ReadPosRankSum=0.698;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RNF103-VPS24;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000440757 GT:AD:DP:GQ:PL 0/1:6,15:21:99:526,0,111
2 86769250 rs143733293 C T 111.80 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.219;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.39;MQ0=0;MQRankSum=-0.729;QD=12.42;ReadPosRankSum=-0.361;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RNF103-VPS24;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000440757 GT:AD:DP:GQ:PL 0/1:4,5:9:99:142,0,147
2 86830876 rs3755000 C A 170.89 PASS AB=0.632;AC=1;AF=0.50;AN=2;BaseQRankSum=1.564;DB;DP=19;Dels=0.0;FS=4.337;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.634;QD=8.99;ReadPosRankSum=-0.211;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RNF103;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463333 GT:AD:DP:GQ:PL 0/1:12,7:19:99:201,0,415
2 86850022 rs396354 T C 332.71 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.27;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VPS24;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000439940 GT:AD:DP:GQ:PL 1/1:0,10:10:27.09:366,27,0
2 86998659 rs71377101 C CT 37.27 QDFilter2 AB=0.875;AC=1;AF=0.50;AN=2;BaseQRankSum=0.588;DB;DP=42;FS=0.0;HRun=16;HaplotypeScore=289.5016;IndelType=I;MQ=56.0;MQ0=0;MQRankSum=-0.785;QD=0.89;ReadPosRankSum=0.343;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RMND5A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283632 GT:AD:DP:GQ:PL 0/1:30,6:42:76.30:76,0,240
2 87085598 rs28727404 T C 50.43 QDFilter2 AB=0.727;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.532;DB;DP=44;Dels=0.0;FS=2.5;HRun=0;HaplotypeScore=1.6208;MQ=48.76;MQ0=5;MQRankSum=-4.117;QD=1.15;ReadPosRankSum=-0.75;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD8B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331469 GT:AD:DP:GQ:PL 0/1:32,12:44:80.43:80,0,1098
2 87100186 rs7562997 A G 37.30 MQFilter40 AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.358;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=26.25;MQ0=8;MQRankSum=0.358;QD=2.66;ReadPosRankSum=0.358;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC111200.10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426186 GT:AD:DP:GQ:PL 0/1:10,4:14:57.39:67,0,57
2 87100519 rs150217372 A T 517.85 PASS AB=0.574;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.707;DB;DP=47;Dels=0.0;FS=15.163;HRun=2;HaplotypeScore=0.0;MQ=47.33;MQ0=2;MQRankSum=-3.255;QD=11.02;ReadPosRankSum=0.514;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC111200.10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426186 GT:AD:DP:GQ:PL 0/1:27,20:47:99:548,0,680
2 87105775 rs138608684 C T 40.95 MQFilter40 AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.38;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=27.45;MQ0=4;MQRankSum=-1.977;QD=2.56;ReadPosRankSum=1.788;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC111200.10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426186 GT:AD:DP:GQ:PL 0/1:8,8:16:70.94:71,0,150
2 87105886 rs149291892 T G 465.30 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.33;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=49.13;MQ0=2;MQRankSum=1.298;QD=14.54;ReadPosRankSum=-1.166;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC111200.10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426186 GT:AD:DP:GQ:PL 0/1:12,20:32:99:495,0,295
2 87157587 rs139263407 A G 110.41 MQFilter40 AB=0.791;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.702;DB;DP=43;Dels=0.0;FS=35.26;HRun=1;HaplotypeScore=0.0;MQ=28.31;MQ0=0;MQRankSum=2.732;QD=2.57;ReadPosRankSum=-0.642;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGPD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398193 GT:AD:DP:GQ:PL 0/1:34,9:43:99:140,0,845
2 87169316 . T G 50.34 MQFilter40 AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.221;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8941;MQ=29.3;MQ0=1;MQRankSum=1.221;QD=5.59;ReadPosRankSum=-1.92;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGPD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398193 GT:AD:DP:GQ:PL 0/1:6,3:9:41.27:80,0,41
2 87169471 . C G 40.31 MQFilter40 AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.307;DP=10;Dels=0.0;FS=3.332;HRun=3;HaplotypeScore=0.0;MQ=36.45;MQ0=1;MQRankSum=-1.881;QD=4.03;ReadPosRankSum=0.361;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGPD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398193 GT:AD:DP:GQ:PL 0/1:6,4:10:70.30:70,0,107
2 87211874 rs191726137 T C 289.69 MQFilter40 AB=0.778;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.103;DB;DP=63;Dels=0.0;FS=3.976;HRun=0;HaplotypeScore=1.6483;MQ=24.87;MQ0=34;MQRankSum=0.0;QD=4.6;ReadPosRankSum=-1.641;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGPD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398193 GT:AD:DP:GQ:PL 0/1:49,14:63:99:320,0,349
2 87276811 . T C 322.15 MQFilter40 AB=0.596;AC=1;AF=0.50;AN=2;BaseQRankSum=1.616;DP=47;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=25.46;MQ0=7;MQRankSum=0.07;QD=6.85;ReadPosRankSum=-1.278;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC125232.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000452554 GT:AD:DP:GQ:PL 0/1:28,19:47:99:352,0,392
2 87345696 rs62144432 A C 362.23 MQFilter40 AB=0.765;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.516;DB;DP=98;Dels=0.0;FS=1.456;HRun=0;HaplotypeScore=0.0;MQ=20.91;MQ0=52;MQRankSum=-2.149;QD=3.7;ReadPosRankSum=1.804;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC092651.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426110 GT:AD:DP:GQ:PL 0/1:75,23:98:99:392,0,669
2 87352393 . G T 97.52 MQFilter40 AB=0.478;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.514;DP=23;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=25.17;MQ0=2;MQRankSum=-1.725;QD=4.24;ReadPosRankSum=1.162;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC083899.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000454465 GT:AD:DP:GQ:PL 0/1:11,12:23:99:128,0,218
2 87355912 . C T 51 QDFilter2 AB=0.857;AC=1;AF=0.50;AN=2;BaseQRankSum=1.186;DP=63;Dels=0.0;FS=8.692;HRun=1;HaplotypeScore=0.0;MQ=44.54;MQ0=1;MQRankSum=-2.446;QD=0.81;ReadPosRankSum=-0.096;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC083899.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000454465 GT:AD:DP:GQ:PL 0/1:54,9:63:80.99:81,0,1507
2 87356024 rs3101261 C A 115.89 MQFilter40 AB=0.727;AC=1;AF=0.50;AN=2;BaseQRankSum=3.309;DB;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=38.09;MQ0=1;MQRankSum=-0.662;QD=5.27;ReadPosRankSum=2.919;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC083899.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000454465 GT:AD:DP:GQ:PL 0/1:16,6:22:99:146,0,366
2 87356038 . G A 105.76 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.857;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=40.0;MQ0=0;MQRankSum=-1.545;QD=5.88;ReadPosRankSum=1.358;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC083899.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000454465 GT:AD:DP:GQ:PL 0/1:12,6:18:99:136,0,359
2 87356057 rs80344669 A G 281.97 PASS AB=0.294;AC=1;AF=0.50;AN=2;BaseQRankSum=1.423;DB;DP=17;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=40.42;MQ0=0;MQRankSum=-2.793;QD=16.59;ReadPosRankSum=-1.318;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC083899.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000454465 GT:AD:DP:GQ:PL 0/1:5,12:17:99:312,0,147
2 87359129 rs149115575 G A 88.56 MQFilter40;QDFilter2 AB=0.746;AC=1;AF=0.50;AN=2;BaseQRankSum=1.754;DB;DP=59;Dels=0.0;FS=8.451;HRun=0;HaplotypeScore=0.9916;MQ=10.37;MQ0=52;MQRankSum=0.937;QD=1.5;ReadPosRankSum=0.55;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC083899.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000454465 GT:AD:DP:GQ:PL 0/1:44,15:59:77.36:119,0,77
2 87371246 rs191721057 A G 296.99 MQFilter40 AB=0.674;AC=1;AF=0.50;AN=2;BaseQRankSum=1.018;DB;DP=46;Dels=0.0;FS=3.628;HRun=0;HaplotypeScore=0.0;MQ=29.62;MQ0=16;MQRankSum=0.104;QD=6.46;ReadPosRankSum=0.894;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC083899.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000454465 GT:AD:DP:GQ:PL 0/1:31,15:46:99:327,0,433
2 87371260 . T C 276.34 MQFilter40 AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.601;DP=52;Dels=0.0;FS=6.314;HRun=0;HaplotypeScore=2.5764;MQ=26.29;MQ0=22;MQRankSum=-0.417;QD=5.31;ReadPosRankSum=1.338;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC083899.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000454465 GT:AD:DP:GQ:PL 0/1:34,17:52:99:306,0,402
2 87371339 rs148290079 C T 186.38 MQFilter40 AB=0.66;AC=1;AF=0.50;AN=2;BaseQRankSum=3.633;DB;DP=51;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=18.06;MQ0=31;MQRankSum=0.122;QD=3.65;ReadPosRankSum=-0.612;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC083899.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000454465 GT:AD:DP:GQ:PL 0/1:33,17:51:99:216,0,246
2 87376944 rs6547711 G A 609.61 PASS AB=0.52;AC=1;AF=0.50;AN=2;BaseQRankSum=3.887;DB;DP=50;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=48.49;MQ0=2;MQRankSum=-1.351;QD=12.19;ReadPosRankSum=-2.382;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC083899.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000454465 GT:AD:DP:GQ:PL 0/1:26,24:50:99:640,0,677
2 87407207 . C A 236.10 MQFilter40 AB=0.69;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.277;DP=116;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=9.93;MQ0=87;MQRankSum=-0.072;QD=2.04;ReadPosRankSum=-0.12;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC083899.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000454465 GT:AD:DP:GQ:PL 0/1:80,36:116:99:266,0,106
2 87423433 rs67035907 G A 31.97 MQFilter40 AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=37.0;MQ0=0;MQRankSum=-1.38;QD=5.33;ReadPosRankSum=0.72;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC083899.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000454465 GT:AD:DP:GQ:PL 0/1:4,2:6:61.96:62,0,119
2 87423456 rs71247734 C G 108.33 MQFilter40 AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.72;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=32.04;MQ0=2;MQRankSum=0.72;QD=13.54;ReadPosRankSum=0.0;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC083899.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000454465 GT:AD:DP:GQ:PL 0/1:4,4:8:61.95:138,0,62
2 87565743 . A C 494.62 PASS AB=0.648;AC=1;AF=0.50;AN=2;BaseQRankSum=0.573;DP=88;Dels=0.0;FS=5.705;HRun=0;HaplotypeScore=0.9159;MQ=43.55;MQ0=5;MQRankSum=-5.227;QD=5.62;ReadPosRankSum=-1.091;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=AC068279.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421835 GT:AD:DP:GQ:PL 0/1:57,31:88:99:525,0,1924
2 87607123 . C T 1652.41 MQFilter40 AB=0.416;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.96;DP=163;Dels=0.0;FS=0.793;HRun=0;HaplotypeScore=10.8594;MQ=28.29;MQ0=59;MQRankSum=2.172;QD=10.14;ReadPosRankSum=-0.82;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=AC068279.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000444323 GT:AD:DP:GQ:PL 0/1:64,90:163:99:1682,0,879
2 87607751 . C T 272.32 MQFilter40;QDFilter2 AB=0.534;AC=1;AF=0.50;AN=2;BaseQRankSum=0.409;DP=206;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=7.14;MQ0=171;MQRankSum=-0.267;QD=1.32;ReadPosRankSum=-1.617;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=AC068279.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000444323 GT:AD:DP:GQ:PL 0/1:110,96:206:99:302,0,100
2 87617811 rs79306919 T A 42.75 MQFilter40 AB=0.125;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.72;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=21.97;MQ0=10;MQRankSum=-0.72;QD=2.67;ReadPosRankSum=-0.72;SNPEFF_EFFECT=INTERGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 0/1:2,14:16:54.89:73,0,55
2 87820915 rs28513497 C T 1780.45 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=50.29;MQ0=0;QD=32.37;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NCRNA00152;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331944 GT:AD:DP:GQ:PL 1/1:0,55:55:99:1813,144,0
2 88056464 rs11557204 T C 360.12 MQFilter40 AB=0.554;AC=1;AF=0.50;AN=2;BaseQRankSum=1.269;DB;DP=74;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=23.55;MQ0=17;MQRankSum=-0.186;QD=4.87;ReadPosRankSum=0.711;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGPD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327544 GT:AD:DP:GQ:PL 0/1:41,33:74:99:390,0,809
2 88058301 . C T 59.46 MQFilter40;QDFilter2 AB=0.616;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.717;DP=99;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=5.18;MQ0=88;MQRankSum=1.749;QD=0.6;ReadPosRankSum=-0.717;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PLGLB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359481 GT:AD:DP:GQ:PL 0/1:61,38:99:24.46:89,0,24
2 88058306 . C T 40.77 MQFilter40;QDFilter2 AB=0.627;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.387;DP=102;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=5.1;MQ0=91;MQRankSum=1.408;QD=0.4;ReadPosRankSum=-0.825;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PLGLB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359481 GT:AD:DP:GQ:PL 0/1:64,38:102:27.44:71,0,27
2 88058373 . T A 222.13 MQFilter40 AB=0.519;AC=1;AF=0.50;AN=2;BaseQRankSum=1.416;DP=81;Dels=0.0;FS=3.68;HRun=0;HaplotypeScore=0.0;MQ=11.57;MQ0=53;MQRankSum=-0.302;QD=2.74;ReadPosRankSum=1.555;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PLGLB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359481 GT:AD:DP:GQ:PL 0/1:42,39:81:99:252,0,164
2 88125093 . G C 52.94 MQFilter40 AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=1.92;DP=8;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=32.94;MQ0=0;MQRankSum=1.221;QD=6.62;ReadPosRankSum=1.92;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGPD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327544 GT:AD:DP:GQ:PL 0/1:5,3:8:82.94:83,0,88
2 88125115 . G C 34.20 MQFilter40 AB=0.813;AC=1;AF=0.50;AN=2;BaseQRankSum=2.491;DP=16;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=27.22;MQ0=2;MQRankSum=0.623;QD=2.14;ReadPosRankSum=2.18;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGPD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327544 GT:AD:DP:GQ:PL 0/1:13,3:16:64.20:64,0,234
2 88272798 . C T 412.35 MQFilter40 AB=0.603;AC=1;AF=0.50;AN=2;BaseQRankSum=3.583;DP=58;Dels=0.0;FS=1.382;HRun=0;HaplotypeScore=2.2368;MQ=32.87;MQ0=6;MQRankSum=0.183;QD=7.11;ReadPosRankSum=1.495;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGPD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420840 GT:AD:DP:GQ:PL 0/1:35,23:58:99:442,0,619
2 88289207 rs5014698 G A 557.03 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=26.23;MQ0=4;QD=25.32;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGPD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420840 GT:AD:DP:GQ:PL 1/1:0,22:22:54.12:590,54,0
2 88289368 rs10209326 G A 872.18 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=48.22;MQ0=0;QD=31.15;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGPD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420840 GT:AD:DP:GQ:PL 1/1:0,28:28:69.21:905,69,0
2 88328163 rs35917852 C CT 67.07 PASS AC=2;AF=1.00;AN=2;DB;DP=18;FS=0.0;HRun=20;HaplotypeScore=221.735;IndelType=I;MQ=44.08;MQ0=0;QD=3.73;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KRCC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000347055 GT:AD:DP:GQ:PL 1/1:13,5:18:20.79:109,21,0
2 88328208 rs12328217 G A 92.65 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=44.1;MQ0=0;QD=18.53;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KRCC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000347055 GT:AD:DP:GQ:PL 1/1:0,5:5:12.03:125,12,0
2 88387403 rs1542088 C A 46.38 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=47.12;MQ0=0;QD=7.73;SNPEFF_AMINO_ACID_CHANGE=R113;SNPEFF_CODON_CHANGE=Cgg/Agg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_88387381_88387594;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMYD1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000419482 GT:AD:DP:GQ:PL 1/1:3,3:6:6.02:78,6,0
2 88392964 . AC A 298.08 PASS AB=0.686;AC=1;AF=0.50;AN=2;BaseQRankSum=2.26;DP=24;FS=0.0;HRun=3;HaplotypeScore=61.3686;IndelType=D;MQ=60.0;MQ0=0;MQRankSum=-0.348;QD=12.42;ReadPosRankSum=-2.086;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMYD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468008 GT:AD:DP:GQ:PL 0/1:13,11:24:99:337,0,480
2 88396080 rs2919883 A C 945.23 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=2.236;DB;DP=72;Dels=0.0;FS=7.371;HRun=0;HaplotypeScore=0.5784;MQ=59.74;MQ0=0;MQRankSum=0.641;QD=13.13;ReadPosRankSum=-0.225;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMYD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295833 GT:AD:DP:GQ:PL 0/1:40,32:72:99:975,0,1156
2 88396120 rs2919882 G A 1242.60 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=0.662;DB;DP=99;Dels=0.0;FS=5.132;HRun=1;HaplotypeScore=0.0;MQ=59.77;MQ0=0;MQRankSum=-0.069;QD=12.55;ReadPosRankSum=0.271;SNPEFF_AMINO_ACID_CHANGE=E222;SNPEFF_CODON_CHANGE=gaG/gaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_88396114_88396303;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMYD1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000444564 GT:AD:DP:GQ:PL 0/1:54,45:99:99:1273,0,1665
2 88396123 rs2970912 C G 1265.60 PASS AB=0.534;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.198;DB;DP=103;Dels=0.0;FS=2.564;HRun=0;HaplotypeScore=0.0;MQ=59.78;MQ0=0;MQRankSum=1.753;QD=12.29;ReadPosRankSum=-0.03;SNPEFF_AMINO_ACID_CHANGE=L223;SNPEFF_CODON_CHANGE=ctC/ctG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_88396114_88396303;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMYD1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000444564 GT:AD:DP:GQ:PL 0/1:55,48:103:99:1296,0,1735
2 88396174 rs2919881 T C 1033.52 PASS AB=0.547;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.956;DB;DP=95;Dels=0.0;FS=5.42;HRun=0;HaplotypeScore=1.7339;MQ=59.76;MQ0=0;MQRankSum=-0.675;QD=10.88;ReadPosRankSum=-0.567;SNPEFF_AMINO_ACID_CHANGE=I240;SNPEFF_CODON_CHANGE=atT/atC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_88396114_88396303;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMYD1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000444564 GT:AD:DP:GQ:PL 0/1:52,43:95:99:1064,0,1717
2 88408172 rs2919858 A G 237.63 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.95;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMYD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295833 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:271,21,0
2 88409879 rs142936938 C T 71.46 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=0.322;DB;DP=9;Dels=0.0;FS=3.68;HRun=0;HaplotypeScore=0.5784;MQ=57.39;MQ0=0;MQRankSum=0.322;QD=7.94;ReadPosRankSum=0.684;SNPEFF_AMINO_ACID_CHANGE=R262W;SNPEFF_CODON_CHANGE=Cgg/Tgg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_88409873_88412900;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMYD1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000295833 GT:AD:DP:GQ:PL 0/1:5,3:9:99:101,0,135
2 88410102 rs2289497 C G 88.62 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.54;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMYD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000438570 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:121,9,0
2 88411793 rs2970888 C A 461.66 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.78;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMYD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000444564 GT:AD:DP:GQ:PL 1/1:0,15:15:39.12:495,39,0
2 88424066 rs2241883 T C 2107.12 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;QD=31.45;SNPEFF_AMINO_ACID_CHANGE=T94A;SNPEFF_CODON_CHANGE=Act/Gct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_88424013_88424105;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FABP1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000295834 GT:AD:DP:GQ:PL 1/1:0,67:67:99:2140,156,0
2 88472791 rs4129190 G A 1741.56 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.56;MQ0=0;QD=32.86;SNPEFF_AMINO_ACID_CHANGE=G41E;SNPEFF_CODON_CHANGE=gGg/gAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_88470979_88472892;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=THNSL2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000324166 GT:AD:DP:GQ:PL 1/1:0,53:53:99:1775,132,0
2 88472925 rs4129189 A G 252.98 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.706;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.7882;MQ=60.0;MQ0=0;MQRankSum=0.265;QD=14.05;ReadPosRankSum=-0.883;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=THNSL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000324166 GT:AD:DP:GQ:PL 0/1:9,9:18:99:283,0,288
2 88474370 rs2139100 A G 1087.79 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;QD=31.99;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=THNSL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000419759 GT:AD:DP:GQ:PL 1/1:0,34:34:87.24:1121,87,0
2 88485392 rs1878810 G C 166.44 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.29;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=THNSL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000402102 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:199,15,0
2 88748390 rs4972212 A T 1046.83 PASS AB=0.531;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.467;DB;DP=81;Dels=0.0;FS=1.973;HRun=0;HaplotypeScore=1.7262;MQ=59.72;MQ0=0;MQRankSum=-0.101;QD=12.92;ReadPosRankSum=0.082;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC012671.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398142 GT:AD:DP:GQ:PL 0/1:43,38:81:99:1077,0,1337
2 88751751 rs11456039 A AG 183.09 PASS AC=2;AF=1.00;AN=2;DB;DP=5;FS=0.0;HRun=1;HaplotypeScore=17.7747;IndelType=I;MQ=55.21;MQ0=0;QD=36.62;SNPEFF_EFFECT=SPLICE_SITE_ACCEPTOR;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC012671.3;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000428390 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:225,15,0
2 88870632 rs4972221 A T 166.26 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.312;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.2;MQ0=0;MQRankSum=-0.66;QD=12.79;ReadPosRankSum=0.555;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EIF2AK3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478003 GT:AD:DP:GQ:PL 0/1:7,6:13:99:196,0,253
2 88874891 rs1805165 C A 1565.96 PASS AB=0.473;AC=1;AF=0.50;AN=2;BaseQRankSum=6.688;DB;DP=91;Dels=0.0;FS=1.288;HRun=0;HaplotypeScore=2.8807;MQ=59.75;MQ0=0;MQRankSum=1.406;QD=17.21;ReadPosRankSum=0.073;SNPEFF_AMINO_ACID_CHANGE=A553S;SNPEFF_CODON_CHANGE=Gct/Tct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_88874184_88874964;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EIF2AK3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000419748 GT:AD:DP:GQ:PL 0/1:43,48:91:99:1596,0,1264
2 88882942 rs6750998 T A 905.17 PASS AB=0.543;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.197;DB;DP=70;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.301;QD=12.93;ReadPosRankSum=-0.289;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EIF2AK3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303236 GT:AD:DP:GQ:PL 0/1:38,32:70:99:935,0,1194
2 88895123 rs13045 T C 596.57 PASS AB=0.537;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.926;DB;DP=54;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.5215;MQ=59.57;MQ0=0;MQRankSum=0.26;QD=11.05;ReadPosRankSum=-1.336;SNPEFF_AMINO_ACID_CHANGE=Q15R;SNPEFF_CODON_CHANGE=cAa/cGa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_88894987_88895181;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EIF2AK3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000419748 GT:AD:DP:GQ:PL 0/1:29,25:54:99:627,0,855
2 88895351 rs7571971 T C 720.83 PASS AB=0.357;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.599;DB;DP=42;Dels=0.0;FS=8.123;HRun=0;HaplotypeScore=0.9916;MQ=60.0;MQ0=0;MQRankSum=-0.052;QD=17.16;ReadPosRankSum=0.84;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EIF2AK3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303236 GT:AD:DP:GQ:PL 0/1:15,27:42:99:751,0,470
2 88913273 rs867529 G C 860.50 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.646;DB;DP=84;Dels=0.0;FS=5.913;HRun=0;HaplotypeScore=1.5661;MQ=59.28;MQ0=0;MQRankSum=1.096;QD=10.24;ReadPosRankSum=-1.057;SNPEFF_AMINO_ACID_CHANGE=S136C;SNPEFF_CODON_CHANGE=tCc/tGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_88913242_88913371;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EIF2AK3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000303236 GT:AD:DP:GQ:PL 0/1:49,35:84:99:890,0,1480
2 89100619 rs75347118 C T 924.24 PASS AB=0.665;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.004;DB;DP=231;Dels=0.0;FS=38.739;HRun=1;HaplotypeScore=6.0067;MQ=46.7;MQ0=1;MQRankSum=-11.913;QD=4.0;ReadPosRankSum=4.729;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ANKRD36BP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000393515 GT:AD:DP:GQ:PL 0/1:153,77:231:99:954,0,4745
2 89100657 rs78731551 G A 1059.91 PASS AB=0.664;AC=1;AF=0.50;AN=2;BaseQRankSum=3.221;DB;DP=245;DS;Dels=0.0;FS=58.031;HRun=4;HaplotypeScore=3.1542;MQ=47.11;MQ0=1;MQRankSum=-11.868;QD=4.33;ReadPosRankSum=-2.152;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ANKRD36BP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000393515 GT:AD:DP:GQ:PL 0/1:162,82:245:99:1090,0,5038
2 89100697 rs76340865 C G 1223.43 PASS AB=0.648;AC=1;AF=0.50;AN=2;BaseQRankSum=3.327;DB;DP=220;DS;Dels=0.0;FS=4.255;HRun=0;HaplotypeScore=8.4735;MQ=48.84;MQ0=0;MQRankSum=-10.819;QD=5.56;ReadPosRankSum=0.901;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ANKRD36BP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000393515 GT:AD:DP:GQ:PL 0/1:142,77:220:99:1253,0,4399
2 89100701 rs79584169 A G 1162.23 PASS AB=0.649;AC=1;AF=0.50;AN=2;BaseQRankSum=5.96;DB;DP=226;DS;Dels=0.0;FS=5.29;HRun=0;HaplotypeScore=0.6651;MQ=48.8;MQ0=0;MQRankSum=-10.955;QD=5.14;ReadPosRankSum=2.684;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ANKRD36BP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000393515 GT:AD:DP:GQ:PL 0/1:146,79:226:99:1192,0,4305
2 89100725 rs75572943 G A 1681.85 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.203;DB;DP=208;DS;Dels=0.0;FS=8.455;HRun=0;HaplotypeScore=0.9998;MQ=46.91;MQ0=0;MQRankSum=-10.916;QD=8.09;ReadPosRankSum=3.694;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ANKRD36BP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000393515 GT:AD:DP:GQ:PL 0/1:112,96:208:99:1712,0,3665
2 89100759 rs73956140 A C 1100.51 PASS AB=0.561;AC=1;AF=0.50;AN=2;BaseQRankSum=0.537;DB;DP=181;DS;Dels=0.0;FS=7.548;HRun=0;HaplotypeScore=2.834;MQ=47.56;MQ0=1;MQRankSum=-10.041;QD=6.08;ReadPosRankSum=1.054;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ANKRD36BP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000393515 GT:AD:DP:GQ:PL 0/1:101,79:181:99:1131,0,3573
2 89100764 rs74666751 A G 1036.16 PASS AB=0.576;AC=1;AF=0.50;AN=2;BaseQRankSum=6.79;DB;DP=172;DS;Dels=0.0;FS=1.462;HRun=1;HaplotypeScore=2.834;MQ=47.59;MQ0=2;MQRankSum=-9.969;QD=6.02;ReadPosRankSum=0.183;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ANKRD36BP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000393515 GT:AD:DP:GQ:PL 0/1:99,73:172:99:1066,0,3452
2 89100865 rs75849821 T C 125.01 PASS AB=0.524;AC=1;AF=0.50;AN=2;BaseQRankSum=2.782;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=41.73;MQ0=0;MQRankSum=-3.134;QD=5.95;ReadPosRankSum=1.021;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ANKRD36BP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000393515 GT:AD:DP:GQ:PL 0/1:11,10:21:99:155,0,343
2 89102315 rs335126 G T 975.83 PASS AB=0.561;AC=1;AF=0.50;AN=2;BaseQRankSum=4.362;DB;DP=82;Dels=0.0;FS=0.909;HRun=1;HaplotypeScore=7.4676;MQ=45.01;MQ0=8;MQRankSum=1.797;QD=11.9;ReadPosRankSum=0.509;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ANKRD36BP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000393515 GT:AD:DP:GQ:PL 0/1:46,36:82:99:1006,0,983
2 89292476 . T TTGTGC 510.03 PASS AC=2;AF=1.00;AN=2;DP=20;FS=0.0;HRun=0;HaplotypeScore=325.7909;IndelType=I;MQ=37.12;MQ0=5;QD=15.46;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=IG_V_gene;SNPEFF_GENE_NAME=IGKV1-8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000495489 GT:AD:DP:GQ:PL 1/1:9,12:20:41.87:552,42,0
2 89292477 . T G 190.48 HaplotypeScoreFilter13;MQFilter40 AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.517;DP=33;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=20.4078;MQ=37.12;MQ0=5;MQRankSum=1.001;QD=5.77;ReadPosRankSum=-3.905;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=IG_V_gene;SNPEFF_GENE_NAME=IGKV1-8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000495489 GT:AD:DP:GQ:PL 0/1:20,8:33:99:220,0,186
2 89293273 rs2693237 T G 400.48 PASS AB=0.623;AC=1;AF=0.50;AN=2;BaseQRankSum=1.073;DB;DP=106;Dels=0.0;FS=5.148;HRun=0;HaplotypeScore=1.7331;MQ=46.65;MQ0=16;MQRankSum=-6.188;QD=3.78;ReadPosRankSum=-0.276;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=IG_V_gene;SNPEFF_GENE_NAME=IGKV1-8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000495489 GT:AD:DP:GQ:PL 0/1:66,40:106:99:430,0,2034
2 89512775 rs145409842 T G 419.76 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=37.2;MQ0=0;QD=29.98;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=IG_V_gene;SNPEFF_GENE_NAME=IGKV1-27;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000498435 GT:AD:DP:GQ:PL 1/1:0,14:14:39.09:453,39,0
2 90007670 rs2847917 G A 1144.75 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.628;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=57.09;MQ0=0;MQRankSum=1.208;QD=34.69;ReadPosRankSum=0.473;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=IG_V_pseudogene;SNPEFF_GENE_NAME=IGKV1D-27;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000453184 GT:AD:DP:GQ:PL 1/1:1,32:33:87.27:1178,87,0
2 90008025 . G A 1507.59 PASS AB=0.604;AC=1;AF=0.50;AN=2;BaseQRankSum=0.614;DP=159;Dels=0.0;FS=13.176;HRun=0;HaplotypeScore=4.0684;MQ=45.94;MQ0=1;MQRankSum=-1.754;QD=9.48;ReadPosRankSum=0.988;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=IG_V_pseudogene;SNPEFF_GENE_NAME=IGKV1D-27;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000453184 GT:AD:DP:GQ:PL 0/1:96,63:159:99:1538,0,2691
2 90008173 rs429681 T C 301.77 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.791;DB;DP=50;Dels=0.0;FS=10.681;HRun=2;HaplotypeScore=0.0;MQ=43.41;MQ0=1;MQRankSum=-3.264;QD=6.04;ReadPosRankSum=-0.343;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=IG_V_pseudogene;SNPEFF_GENE_NAME=IGKV1D-27;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000453184 GT:AD:DP:GQ:PL 0/1:35,15:50:99:332,0,1039
2 90008208 rs138920656 T G 740.68 PASS AB=0.212;AC=1;AF=0.50;AN=2;BaseQRankSum=1.279;DB;DP=33;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=42.0;MQ0=1;MQRankSum=1.424;QD=22.44;ReadPosRankSum=0.217;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=IG_V_pseudogene;SNPEFF_GENE_NAME=IGKV1D-27;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000453184 GT:AD:DP:GQ:PL 0/1:7,26:33:99:771,0,110
2 90008287 rs147071425 A C 208.82 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=29.62;MQ0=5;QD=17.4;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=IG_V_pseudogene;SNPEFF_GENE_NAME=IGKV1D-27;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000453184 GT:AD:DP:GQ:PL 1/1:0,12:12:21.05:242,21,0
2 90043509 . C T 88.83 MQFilter40 AC=2;AF=1.00;AN=2;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=19.13;MQ0=6;QD=8.88;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=IG_V_pseudogene;SNPEFF_GENE_NAME=IGKV2D-23;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000518179 GT:AD:DP:GQ:PL 1/1:4,6:10:12.02:121,12,0
2 90108416 rs859744 G A 210.46 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.08;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=IG_V_gene;SNPEFF_GENE_NAME=IGKV6D-41;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000390271 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:243,18,0
2 90108679 rs146434787 A AT 354.41 PASS AC=2;AF=1.00;AN=2;DB;DP=12;FS=0.0;HRun=9;HaplotypeScore=27.5392;IndelType=I;MQ=60.0;MQ0=0;QD=29.53;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=IG_V_gene;SNPEFF_GENE_NAME=IGKV6D-41;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000390271 GT:AD:DP:GQ:PL 1/1:0,12:12:36.10:396,36,0
2 90108778 rs859745 G T 385.38 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.03;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=IG_V_gene;SNPEFF_GENE_NAME=IGKV6D-41;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000390271 GT:AD:DP:GQ:PL 1/1:0,11:11:33.10:418,33,0
2 90121675 rs7371197 T C 1167.61 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=24.65;MQ0=9;QD=19.14;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=IG_V_gene;SNPEFF_GENE_NAME=IGKV1D-17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000483379 GT:AD:DP:GQ:PL 1/1:0,61:61:99:1201,111,0
2 90138961 rs2693251 C G 34.20 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.925;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=46.46;MQ0=0;MQRankSum=-2.034;QD=2.85;ReadPosRankSum=-1.664;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=pseudogene;SNPEFF_GENE_NAME=AC073416.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000323194 GT:AD:DP:GQ:PL 0/1:9,3:12:64.19:64,0,323
2 90139116 . G A 1941.98 PASS AB=0.412;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.434;DP=133;Dels=0.0;FS=1.409;HRun=0;HaplotypeScore=0.0;MQ=43.53;MQ0=1;MQRankSum=-4.483;QD=14.6;ReadPosRankSum=2.08;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=IG_V_gene;SNPEFF_GENE_NAME=IGKV1D-16;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000492446 GT:AD:DP:GQ:PL 0/1:54,77:133:99:1972,0,1329
2 90259695 rs33932272 A G 196.28 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=2.504;DB;DP=36;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=43.28;MQ0=3;MQRankSum=-4.161;QD=5.45;ReadPosRankSum=1.603;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_2_90259593_90259828;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=IG_V_gene;SNPEFF_GENE_NAME=IGKV1D-8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471857 GT:AD:DP:GQ:PL 0/1:16,20:36:99:226,0,526
2 90259710 rs57896409 A C 166.75 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=4.017;DB;DP=42;Dels=0.0;FS=3.212;HRun=1;HaplotypeScore=1.4942;MQ=46.17;MQ0=2;MQRankSum=-4.9;QD=3.97;ReadPosRankSum=2.857;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_2_90259593_90259828;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=IG_V_gene;SNPEFF_GENE_NAME=IGKV1D-8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471857 GT:AD:DP:GQ:PL 0/1:24,18:42:99:197,0,830
2 90259717 rs75674860 C A 161.42 PASS AB=0.578;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.964;DB;DP=45;Dels=0.0;FS=3.323;HRun=0;HaplotypeScore=1.4942;MQ=46.36;MQ0=3;MQRankSum=-4.878;QD=3.59;ReadPosRankSum=2.178;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_2_90259593_90259828;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=IG_V_gene;SNPEFF_GENE_NAME=IGKV1D-8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471857 GT:AD:DP:GQ:PL 0/1:26,19:45:99:191,0,910
2 90259734 rs61077279 C A 99.77 QDFilter2 AB=0.673;AC=1;AF=0.50;AN=2;BaseQRankSum=0.02;DB;DP=55;Dels=0.0;FS=3.444;HRun=0;HaplotypeScore=0.0;MQ=49.28;MQ0=3;MQRankSum=-5.453;QD=1.81;ReadPosRankSum=0.626;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_2_90259593_90259828;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=IG_V_gene;SNPEFF_GENE_NAME=IGKV1D-8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471857 GT:AD:DP:GQ:PL 0/1:37,18:55:99:130,0,1337
2 90414077 . T G 68.59 MQFilter40;QDFilter2 AB=0.676;AC=1;AF=0.50;AN=2;BaseQRankSum=1.13;DP=37;Dels=0.0;FS=3.09;HRun=1;HaplotypeScore=3.8625;MQ=36.51;MQ0=1;MQRankSum=-2.614;QD=1.85;ReadPosRankSum=-1.646;SNPEFF_EFFECT=INTERGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 0/1:25,12:37:98.59:99,0,291
2 90414086 . A G 44.68 MQFilter40;QDFilter2 AB=0.854;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.127;DP=44;Dels=0.0;FS=5.798;HRun=0;HaplotypeScore=4.8763;MQ=35.86;MQ0=1;MQRankSum=-1.588;QD=1.02;ReadPosRankSum=0.404;SNPEFF_EFFECT=INTERGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 0/1:35,6:44:74.68:75,0,575
2 90414152 . A G 1952.83 MQFilter40 AC=2;AF=1.00;AN=2;DP=104;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=12.3309;MQ=33.29;MQ0=13;QD=18.78;SNPEFF_EFFECT=INTERGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 1/1:0,93:104:99:1986,174,0
2 90414224 . C G 418.09 HaplotypeScoreFilter13;MQFilter40 AB=0.641;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DP=88;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=44.7407;MQ=39.57;MQ0=1;MQRankSum=-3.074;QD=4.75;ReadPosRankSum=1.028;SNPEFF_EFFECT=INTERGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 0/1:50,28:88:99:448,0,1379
2 90414241 . A G 286.45 MQFilter40 AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.765;DP=71;Dels=0.0;FS=1.339;HRun=3;HaplotypeScore=10.6467;MQ=37.54;MQ0=1;MQRankSum=-1.517;QD=4.03;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTERGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 0/1:50,20:71:99:316,0,1342
2 90414267 . A G 182.34 HaplotypeScoreFilter13;MQFilter40 AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.562;DP=45;Dels=0.0;FS=4.41;HRun=1;HaplotypeScore=25.7755;MQ=34.46;MQ0=2;MQRankSum=-4.065;QD=4.05;ReadPosRankSum=-1.216;SNPEFF_EFFECT=INTERGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 0/1:22,22:45:99:212,0,530
2 90414270 . C A 100.21 HaplotypeScoreFilter13;MQFilter40 AB=0.795;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.972;DP=44;Dels=0.0;FS=2.634;HRun=1;HaplotypeScore=25.7755;MQ=34.4;MQ0=2;MQRankSum=-0.032;QD=2.28;ReadPosRankSum=0.875;SNPEFF_EFFECT=INTERGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 0/1:35,9:44:99:130,0,586
2 90414282 . A C 75.22 HaplotypeScoreFilter13;MQFilter40 AB=0.541;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.486;DP=37;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=21.2885;MQ=35.44;MQ0=2;MQRankSum=-3.98;QD=2.03;ReadPosRankSum=0.054;SNPEFF_EFFECT=INTERGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 0/1:20,17:37:99:105,0,521
2 90414337 . T C 30.69 MQFilter40 AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.927;DP=14;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=10.7486;MQ=27.29;MQ0=1;MQRankSum=-2.313;QD=2.19;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTERGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 0/1:6,8:14:60.68:61,0,161
2 90458172 . A G 742.44 MQFilter40 AC=2;AF=1.00;AN=2;DP=43;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=30.22;MQ0=13;QD=17.27;SNPEFF_EFFECT=INTERGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 1/1:5,38:43:72.14:775,72,0
2 90458538 . T C 143.40 MQFilter40;QDFilter2 AB=0.732;AC=1;AF=0.50;AN=2;BaseQRankSum=2.68;DP=250;DS;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.6988;MQ=13.34;MQ0=98;MQRankSum=-0.274;QD=0.57;ReadPosRankSum=0.061;SNPEFF_EFFECT=INTERGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 0/1:183,67:250:99:173,0,654
2 90458594 . T C 2067.13 MQFilter40 AB=0.524;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.403;DP=250;DS;Dels=0.0;FS=7.204;HRun=0;HaplotypeScore=0.734;MQ=27.01;MQ0=29;MQRankSum=-1.921;QD=8.27;ReadPosRankSum=0.62;SNPEFF_EFFECT=INTERGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 0/1:131,119:250:99:2097,0,2453
2 90458606 . C T 196.94 MQFilter40;QDFilter2 AB=0.859;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.651;DP=250;DS;Dels=0.0;FS=4.862;HRun=0;HaplotypeScore=0.734;MQ=27.41;MQ0=21;MQRankSum=-1.069;QD=0.79;ReadPosRankSum=-0.147;SNPEFF_EFFECT=INTERGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 0/1:214,35:250:99:227,0,4641
2 90458745 . T C 500.20 MQFilter40 AB=0.61;AC=1;AF=0.50;AN=2;BaseQRankSum=-8.129;DP=182;DS;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.2064;MQ=16.1;MQ0=49;MQRankSum=0.865;QD=2.75;ReadPosRankSum=0.171;SNPEFF_EFFECT=INTERGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 0/1:111,71:182:99:530,0,769
2 90458792 . G C 43.03 MQFilter40;QDFilter2 AB=0.853;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.059;DP=75;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9157;MQ=16.11;MQ0=23;MQRankSum=1.8;QD=0.57;ReadPosRankSum=-1.93;SNPEFF_EFFECT=INTERGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 0/1:64,11:75:73.03:73,0,527
2 90464641 . G A 80.66 MQFilter40 AB=0.273;AC=1;AF=0.50;AN=2;BaseQRankSum=1.274;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=14.67;MQ0=7;MQRankSum=0.085;QD=3.67;ReadPosRankSum=2.123;SNPEFF_EFFECT=INTERGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 0/1:6,16:22:8.69:110,0,9
2 90464714 . C T 395.19 MQFilter40 AB=0.352;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.223;DP=105;Dels=0.0;FS=10.017;HRun=2;HaplotypeScore=0.734;MQ=18.72;MQ0=29;MQRankSum=-2.724;QD=3.76;ReadPosRankSum=-0.185;SNPEFF_EFFECT=INTERGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 0/1:37,68:105:99:425,0,351
2 90464785 . C T 360.21 MQFilter40 AB=0.725;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.022;DP=121;Dels=0.0;FS=0.995;HRun=1;HaplotypeScore=3.3664;MQ=26.44;MQ0=13;MQRankSum=-0.812;QD=2.98;ReadPosRankSum=2.385;SNPEFF_EFFECT=INTERGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 0/1:87,33:121:99:390,0,1551
2 90464845 . C CA 67.57 QDFilter2 AB=0.868;AC=1;AF=0.50;AN=2;BaseQRankSum=1.662;DP=42;FS=0.0;HRun=9;HaplotypeScore=233.1761;IndelType=I;MQ=25.85;MQ0=10;MQRankSum=-0.262;QD=1.15;ReadPosRankSum=-1.779;SNPEFF_EFFECT=INTERGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 0/1:50,9:42:99:107,0,248
2 90464855 rs71218065 C A 283.10 HaplotypeScoreFilter13;MQFilter40 AB=0.383;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.778;DB;DP=47;Dels=0.02;FS=0.0;HRun=9;HaplotypeScore=13.468;MQ=24.55;MQ0=12;MQRankSum=0.724;QD=5.9;ReadPosRankSum=-0.488;SNPEFF_EFFECT=INTERGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 0/1:18,29:47:99:313,0,251
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2 91678825 . G A 177.78 MQFilter40;QDFilter2 AB=0.734;AC=1;AF=0.50;AN=2;BaseQRankSum=4.018;DP=139;Dels=0.0;FS=2.402;HRun=1;HaplotypeScore=1.9258;MQ=23.46;MQ0=44;MQRankSum=-0.049;QD=1.28;ReadPosRankSum=0.413;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC018696.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000405516 GT:AD:DP:GQ:PL 0/1:102,37:139:99:208,0,1626
2 91678867 rs79383010 A T 2657.22 HaplotypeScoreFilter13;MQFilter40 AB=0.303;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.186;DB;DP=250;DS;Dels=0.0;FS=6.725;HRun=0;HaplotypeScore=30.7842;MQ=27.58;MQ0=39;MQRankSum=-2.801;QD=10.63;ReadPosRankSum=1.401;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC018696.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000405516 GT:AD:DP:GQ:PL 0/1:73,168:250:99:2687,0,1128
2 91678874 . G A 86.33 HaplotypeScoreFilter13;MQFilter40;QDFilter2 AB=0.867;AC=1;AF=0.50;AN=2;BaseQRankSum=5.162;DP=250;DS;Dels=0.0;FS=4.333;HRun=1;HaplotypeScore=86.4686;MQ=29.02;MQ0=30;MQRankSum=-2.111;QD=0.35;ReadPosRankSum=0.48;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC018696.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000405516 GT:AD:DP:GQ:PL 0/1:216,33:250:99:116,0,4523
2 91678879 rs75128484 T C 3569.86 HaplotypeScoreFilter13;MQFilter40 AB=0.309;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.051;DB;DP=250;DS;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=33.139;MQ=28.59;MQ0=33;MQRankSum=-0.027;QD=14.28;ReadPosRankSum=0.331;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC018696.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000405516 GT:AD:DP:GQ:PL 0/1:76,170:250:99:3570,0,992
2 91678903 rs80029187 A G 607.69 HaplotypeScoreFilter13;MQFilter40 AB=0.74;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.293;DB;DP=250;DS;Dels=0.0;FS=1.763;HRun=0;HaplotypeScore=17.2786;MQ=30.28;MQ0=23;MQRankSum=-1.282;QD=2.43;ReadPosRankSum=2.588;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC018696.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000455863 GT:AD:DP:GQ:PL 0/1:185,65:250:99:638,0,4120
2 91678924 . C T 56.77 MQFilter40;QDFilter2 AB=0.855;AC=1;AF=0.50;AN=2;BaseQRankSum=0.352;DP=250;DS;Dels=0.0;FS=1.003;HRun=1;HaplotypeScore=6.2159;MQ=26.91;MQ0=44;MQRankSum=-0.813;QD=0.23;ReadPosRankSum=-0.836;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC018696.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000455863 GT:AD:DP:GQ:PL 0/1:213,36:250:86.76:87,0,3965
2 91679044 rs145372481 A G 2694.42 MQFilter40 AB=0.416;AC=1;AF=0.50;AN=2;BaseQRankSum=-6.158;DB;DP=250;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.5585;MQ=23.99;MQ0=22;MQRankSum=1.609;QD=10.78;ReadPosRankSum=-1.004;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC018696.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000455863 GT:AD:DP:GQ:PL 0/1:104,146:250:99:2724,0,1667
2 91679240 rs147662755 T C 93.86 MQFilter40;QDFilter2 AB=0.722;AC=1;AF=0.50;AN=2;BaseQRankSum=1.209;DB;DP=237;DS;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=7.27;MQ0=185;MQRankSum=0.117;QD=0.4;ReadPosRankSum=-1.112;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC018696.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000405516 GT:AD:DP:GQ:PL 0/1:171,66:237:99:124,0,171
2 91711962 rs140168684 C A 236.52 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=16.94;MQ0=4;QD=13.91;SNPEFF_EFFECT=INTERGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 1/1:2,15:17:32.94:270,33,0
2 91711974 rs146923535 A G 386.63 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=18.44;MQ0=3;QD=19.33;SNPEFF_EFFECT=INTERGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 1/1:1,19:20:50.92:420,51,0
2 91712014 rs138586851 C A 399.58 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=18.06;MQ0=3;QD=16.65;SNPEFF_EFFECT=INTERGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 1/1:2,22:24:47.96:433,48,0
2 91712947 rs1668811 A G 88.72 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=10.6;MQ0=21;QD=3.41;SNPEFF_EFFECT=INTERGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 1/1:0,26:26:12.02:121,12,0
2 91713016 rs2637066 G A 96.63 MQFilter40 AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=0.322;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=18.65;MQ0=9;MQRankSum=-0.956;QD=5.68;ReadPosRankSum=-1.517;SNPEFF_EFFECT=INTERGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 0/1:8,9:17:71.30:127,0,71
2 91766609 rs56138505 G A 173.87 QDFilter2 AB=0.854;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.965;DB;DP=103;Dels=0.0;FS=1.184;HRun=0;HaplotypeScore=3.5594;MQ=51.2;MQ0=0;MQRankSum=-1.871;QD=1.69;ReadPosRankSum=-0.765;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=AC018696.4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000454518 GT:AD:DP:GQ:PL 0/1:88,15:103:99:204,0,2696
2 91777622 rs1868874 A G 89.82 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.937;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.73;MQ0=0;MQRankSum=0.55;QD=12.83;ReadPosRankSum=-0.937;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC116050.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443031 GT:AD:DP:GQ:PL 0/1:3,4:7:96.83:120,0,97
2 91777703 rs4082168 A G 159.82 PASS AB=0.524;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.387;DB;DP=21;Dels=0.0;FS=4.738;HRun=1;HaplotypeScore=0.9983;MQ=46.76;MQ0=0;MQRankSum=-1.162;QD=7.61;ReadPosRankSum=-0.669;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC116050.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443031 GT:AD:DP:GQ:PL 0/1:11,10:21:99:190,0,375
2 91777718 rs1868875 C T 157.23 PASS AB=0.619;AC=1;AF=0.50;AN=2;BaseQRankSum=0.543;DB;DP=21;Dels=0.0;FS=2.199;HRun=0;HaplotypeScore=0.9578;MQ=44.61;MQ0=0;MQRankSum=-1.34;QD=7.49;ReadPosRankSum=1.774;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC116050.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443031 GT:AD:DP:GQ:PL 0/1:13,8:21:99:187,0,405
2 91777739 rs4518004 T A 302.33 MQFilter40 AB=0.613;AC=1;AF=0.50;AN=2;BaseQRankSum=2.252;DB;DP=31;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=39.01;MQ0=3;MQRankSum=2.019;QD=9.75;ReadPosRankSum=-0.348;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC116050.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443031 GT:AD:DP:GQ:PL 0/1:19,12:31:99:332,0,376
2 91777844 rs112386667 AGATGCTGTG A 1170.60 PASS AB=0.733;AC=1;AF=0.50;AN=2;BaseQRankSum=4.951;DB;DP=40;FS=5.188;HRun=0;HaplotypeScore=341.8964;IndelType=D;MQ=43.25;MQ0=0;MQRankSum=-4.572;QD=26.6;ReadPosRankSum=0.086;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC116050.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443031 GT:AD:DP:GQ:PL 0/1:28,16:40:99:1210,0,2447
2 91777902 rs2647769 C T 56.51 QDFilter2 AB=0.824;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.745;DB;DP=34;Dels=0.0;FS=5.383;HRun=0;HaplotypeScore=0.0;MQ=42.53;MQ0=0;MQRankSum=-2.146;QD=1.66;ReadPosRankSum=1.739;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC116050.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443031 GT:AD:DP:GQ:PL 0/1:28,6:34:86.51:87,0,792
2 91777983 rs2558001 T C 107.84 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.517;DB;DP=14;Dels=0.0;FS=4.15;HRun=0;HaplotypeScore=0.0;MQ=45.4;MQ0=0;MQRankSum=0.839;QD=7.7;ReadPosRankSum=0.065;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC116050.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443031 GT:AD:DP:GQ:PL 0/1:8,6:14:99:138,0,240
2 91777987 rs2558000 T C 78.90 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.67;DB;DP=13;Dels=0.0;FS=4.15;HRun=2;HaplotypeScore=0.0;MQ=46.42;MQ0=0;MQRankSum=0.696;QD=6.07;ReadPosRankSum=0.696;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC116050.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443031 GT:AD:DP:GQ:PL 0/1:8,5:13:99:109,0,250
2 91795325 rs1640026 A G 204.86 PASS AB=0.3;AC=1;AF=0.50;AN=2;BaseQRankSum=0.296;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.6635;MQ=54.02;MQ0=0;MQRankSum=0.546;QD=20.49;ReadPosRankSum=-0.895;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC116050.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443031 GT:AD:DP:GQ:PL 0/1:3,7:10:56.38:235,0,56
2 91795381 rs4244683 A C 708.27 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.23;MQ0=0;QD=33.73;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC116050.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443031 GT:AD:DP:GQ:PL 1/1:0,21:21:57.18:741,57,0
2 91795593 rs144493896 CCAACT C 5636.26 PASS AB=0.68;AC=1;AF=0.50;AN=2;BaseQRankSum=8.458;DB;DP=216;DS;FS=1.082;HRun=0;HaplotypeScore=1243.647;IndelType=D;MQ=55.7;MQ0=0;MQRankSum=0.152;QD=25.97;ReadPosRankSum=2.916;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC116050.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443031 GT:AD:DP:GQ:PL 0/1:115,102:216:99:5636,0,9089
2 91795675 rs4337515 A G 3775.55 PASS AB=0.122;AC=1;AF=0.50;AN=2;BaseQRankSum=3.811;DB;DP=149;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9999;MQ=55.24;MQ0=3;MQRankSum=-1.358;QD=25.34;ReadPosRankSum=-0.339;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC116050.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443031 GT:AD:DP:GQ:PL 0/1:18,130:149:99:3776,0,237
2 91795739 rs4637168 T C 2719.26 PASS AC=2;AF=1.00;AN=2;DB;DP=78;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=55.06;MQ0=1;QD=34.86;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC116050.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443031 GT:AD:DP:GQ:PL 1/1:0,77:78:99:2752,214,0
2 91809039 rs1649490 G A 39.23 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.16;MQ0=0;MQRankSum=0.0;QD=9.81;ReadPosRankSum=1.026;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC116050.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443031 GT:AD:DP:GQ:PL 0/1:2,2:4:42.25:69,0,42
2 91809227 rs2536993 A G 1039.32 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.385;DB;DP=124;Dels=0.0;FS=6.336;HRun=0;HaplotypeScore=5.1747;MQ=54.02;MQ0=3;MQRankSum=-2.4;QD=8.38;ReadPosRankSum=-0.321;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC116050.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443031 GT:AD:DP:GQ:PL 0/1:67,56:124:99:1069,0,2102
2 91809324 rs2536994 C T 1409.17 PASS AB=0.536;AC=1;AF=0.50;AN=2;BaseQRankSum=4.696;DB;DP=183;Dels=0.0;FS=3.031;HRun=0;HaplotypeScore=3.7821;MQ=49.3;MQ0=14;MQRankSum=-8.111;QD=7.66;ReadPosRankSum=0.279;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC116050.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443031 GT:AD:DP:GQ:PL 0/1:98,85:183:99:1439,0,2737
2 91809385 rs55812636 C G 1010.94 PASS AB=0.537;AC=1;AF=0.50;AN=2;BaseQRankSum=0.37;DB;DP=150;Dels=0.0;FS=23.774;HRun=1;HaplotypeScore=4.4224;MQ=47.95;MQ0=10;MQRankSum=-8.065;QD=6.74;ReadPosRankSum=2.569;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC116050.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443031 GT:AD:DP:GQ:PL 0/1:80,69:150:99:1041,0,2594
2 91809404 rs55918232 G C 957.92 PASS AB=0.524;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.38;DB;DP=126;Dels=0.0;FS=22.528;HRun=0;HaplotypeScore=0.0;MQ=48.82;MQ0=7;MQRankSum=-7.982;QD=7.6;ReadPosRankSum=2.691;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC116050.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443031 GT:AD:DP:GQ:PL 0/1:66,60:126:99:988,0,2155
2 91809456 rs2191971 T G 117.94 QDFilter2 AB=0.697;AC=1;AF=0.50;AN=2;BaseQRankSum=0.361;DB;DP=89;Dels=0.0;FS=17.864;HRun=2;HaplotypeScore=1.9692;MQ=50.74;MQ0=5;MQRankSum=-6.818;QD=1.33;ReadPosRankSum=-3.302;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC116050.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443031 GT:AD:DP:GQ:PL 0/1:62,27:89:99:148,0,1951
2 91809472 rs55833633 G GTGACTAACAA 1358.02 PASS AB=0.886;AC=1;AF=0.50;AN=2;BaseQRankSum=2.151;DB;DP=68;FS=0.0;HRun=0;HaplotypeScore=603.8556;IndelType=I;MQ=51.9;MQ0=0;MQRankSum=-4.921;QD=17.41;ReadPosRankSum=-2.546;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC116050.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443031 GT:AD:DP:GQ:PL 0/1:68,6:68:99:1397,0,5273
2 91825095 rs145670113 C T 1287.86 PASS AB=0.372;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.48;DB;DP=86;Dels=0.0;FS=1.018;HRun=0;HaplotypeScore=0.9867;MQ=41.62;MQ0=8;MQRankSum=-1.615;QD=14.98;ReadPosRankSum=1.397;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC027612.6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000271699 GT:AD:DP:GQ:PL 0/1:32,54:86:99:1318,0,931
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2 91873013 rs78077197 T G 421.09 MQFilter40 AB=0.679;AC=1;AF=0.50;AN=2;BaseQRankSum=2.458;DB;DP=85;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=33.33;MQ0=21;MQRankSum=-2.372;QD=4.95;ReadPosRankSum=0.642;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=AC027612.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328341 GT:AD:DP:GQ:PL 0/1:57,27:85:99:451,0,1110
2 91873025 rs139222171 C T 505.44 MQFilter40 AB=0.67;AC=1;AF=0.50;AN=2;BaseQRankSum=2.488;DB;DP=88;Dels=0.0;FS=1.058;HRun=1;HaplotypeScore=1.5774;MQ=33.34;MQ0=18;MQRankSum=-2.022;QD=5.74;ReadPosRankSum=2.402;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=AC027612.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328341 GT:AD:DP:GQ:PL 0/1:59,29:88:99:535,0,1083
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2 91873972 . C T 43.42 MQFilter40 AC=2;AF=1.00;AN=2;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=38.48;MQ0=1;QD=14.47;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC027612.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000436174 GT:AD:DP:GQ:PL 1/1:1,2:3:6.02:75,6,0
2 91884576 rs4041772 T C 126.96 PASS AB=0.743;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.283;DB;DP=35;Dels=0.0;FS=5.654;HRun=0;HaplotypeScore=0.7887;MQ=47.44;MQ0=0;MQRankSum=-3.227;QD=3.63;ReadPosRankSum=-1.189;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC027612.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000436174 GT:AD:DP:GQ:PL 0/1:26,9:35:99:157,0,880
2 91885883 . T C 159.83 MQFilter40 AB=0.638;AC=1;AF=0.50;AN=2;BaseQRankSum=1.305;DP=70;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.6655;MQ=37.94;MQ0=8;MQRankSum=-4.546;QD=2.28;ReadPosRankSum=-0.909;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC027612.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000436174 GT:AD:DP:GQ:PL 0/1:44,25:70:99:190,0,1436
2 91886030 . GAA G 645.98 PASS AB=0.79;AC=1;AF=0.50;AN=2;BaseQRankSum=4.278;DP=151;FS=2.102;HRun=12;HaplotypeScore=701.8775;IndelType=D;MQ=39.9;MQ0=10;MQRankSum=-6.604;QD=3.73;ReadPosRankSum=2.542;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC027612.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000436174 GT:AD:DP:GQ:PL 0/1:125,46:151:99:685,0,4420
2 91886070 . A G 857.73 MQFilter40 AB=0.705;AC=1;AF=0.50;AN=2;BaseQRankSum=3.328;DP=124;Dels=0.0;FS=3.068;HRun=0;HaplotypeScore=2.8284;MQ=38.07;MQ0=5;MQRankSum=1.115;QD=6.92;ReadPosRankSum=-0.324;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC027612.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000436174 GT:AD:DP:GQ:PL 0/1:86,36:124:99:888,0,2192
2 91886089 rs148032706 C T 259.02 MQFilter40 AB=0.671;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.165;DB;DP=74;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9159;MQ=36.57;MQ0=6;MQRankSum=-5.03;QD=3.5;ReadPosRankSum=0.467;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC027612.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000436174 GT:AD:DP:GQ:PL 0/1:49,24:74:99:289,0,1535
2 91887842 rs78921039 T C 84.19 MQFilter40 AB=0.688;AC=1;AF=0.50;AN=2;BaseQRankSum=0.429;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=34.22;MQ0=1;MQRankSum=-0.919;QD=5.26;ReadPosRankSum=2.266;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC027612.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000436174 GT:AD:DP:GQ:PL 0/1:11,5:16:99:114,0,309
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2 91888125 . C T 81.83 MQFilter40;QDFilter2 AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=0.387;DP=120;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=7.43;MQ0=109;MQRankSum=0.717;QD=0.68;ReadPosRankSum=0.143;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC027612.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000436174 GT:AD:DP:GQ:PL 0/1:84,36:120:74.39:112,0,74
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2 91888456 rs142484459 C A 670.54 MQFilter40 AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=2.044;DB;DP=99;Dels=0.0;FS=11.772;HRun=2;HaplotypeScore=0.5784;MQ=29.09;MQ0=8;MQRankSum=0.079;QD=6.77;ReadPosRankSum=-0.196;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC027612.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000436174 GT:AD:DP:GQ:PL 0/1:56,42:99:99:701,0,1251
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2 91894194 rs141864677 C T 323.92 MQFilter40 AB=0.674;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.289;DB;DP=95;Dels=0.0;FS=2.232;HRun=0;HaplotypeScore=0.0;MQ=24.25;MQ0=15;MQRankSum=-0.743;QD=3.41;ReadPosRankSum=0.01;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC027612.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000436174 GT:AD:DP:GQ:PL 0/1:64,31:95:99:354,0,1120
2 91899588 . A G 102.85 MQFilter40 AC=2;AF=1.00;AN=2;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=27.55;MQ0=1;QD=20.57;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC027612.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000436174 GT:AD:DP:GQ:PL 1/1:0,5:5:12.03:135,12,0
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2 91924698 rs2089351 G C 34.20 PASS AB=0.786;AC=1;AF=0.50;AN=2;BaseQRankSum=2.18;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=51.31;MQ0=0;MQRankSum=-2.647;QD=2.44;ReadPosRankSum=0.311;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC027612.4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000445234 GT:AD:DP:GQ:PL 0/1:11,3:14:64.20:64,0,298
2 91924782 rs28380329 C A 391.43 PASS AB=0.55;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.079;DB;DP=40;Dels=0.0;FS=11.621;HRun=1;HaplotypeScore=0.5784;MQ=46.46;MQ0=1;MQRankSum=-3.799;QD=9.79;ReadPosRankSum=0.695;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC027612.4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000445234 GT:AD:DP:GQ:PL 0/1:22,18:40:99:421,0,692
2 91924804 rs925176 T C 589.49 PASS AB=0.529;AC=1;AF=0.50;AN=2;BaseQRankSum=0.837;DB;DP=51;Dels=0.0;FS=18.73;HRun=0;HaplotypeScore=0.0;MQ=44.62;MQ0=1;MQRankSum=-4.613;QD=11.56;ReadPosRankSum=1.966;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC027612.4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000445234 GT:AD:DP:GQ:PL 0/1:27,24:51:99:619,0,859
2 91925022 rs28577290 C A 301.22 MQFilter40 AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=0.254;DB;DP=56;Dels=0.0;FS=1.81;HRun=1;HaplotypeScore=0.0;MQ=24.75;MQ0=15;MQRankSum=-0.468;QD=5.38;ReadPosRankSum=0.227;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC027612.4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000445234 GT:AD:DP:GQ:PL 0/1:36,20:56:99:331,0,562
2 92031108 . A G 63.82 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.2;DP=14;Dels=0.0;FS=9.792;HRun=1;HaplotypeScore=0.0;MQ=50.28;MQ0=0;MQRankSum=-3.067;QD=4.56;ReadPosRankSum=0.0;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC127391.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000445663 GT:AD:DP:GQ:PL 0/1:9,5:14:93.81:94,0,298
2 92031111 . T C 63.82 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=0.933;DP=14;Dels=0.0;FS=9.792;HRun=0;HaplotypeScore=0.0;MQ=50.28;MQ0=0;MQRankSum=-3.067;QD=4.56;ReadPosRankSum=-0.4;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC127391.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000445663 GT:AD:DP:GQ:PL 0/1:9,5:14:93.81:94,0,298
2 92031125 rs77564203 G A 33.40 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.466;DB;DP=15;Dels=0.0;FS=7.404;HRun=0;HaplotypeScore=0.9987;MQ=48.33;MQ0=1;MQRankSum=-2.855;QD=2.23;ReadPosRankSum=-1.62;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC127391.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000445663 GT:AD:DP:GQ:PL 0/1:9,6:15:63.39:63,0,296
2 92031179 rs75069572 G A 53.21 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=1.408;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=45.02;MQ0=1;MQRankSum=-2.637;QD=4.09;ReadPosRankSum=-0.387;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC127391.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000445663 GT:AD:DP:GQ:PL 0/1:7,6:13:83.20:83,0,193
2 92031184 rs77844773 G A 92.32 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=1.2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=45.3;MQ0=1;MQRankSum=-3.016;QD=6.15;ReadPosRankSum=0.101;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC127391.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000445663 GT:AD:DP:GQ:PL 0/1:8,7:15:99:122,0,217
2 92031253 rs72936134 G T 126.66 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.101;DB;DP=14;Dels=0.0;FS=3.424;HRun=1;HaplotypeScore=0.0;MQ=45.44;MQ0=0;MQRankSum=-3.016;QD=9.05;ReadPosRankSum=1.2;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC127391.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000445663 GT:AD:DP:GQ:PL 0/1:7,7:14:99:157,0,191
2 92031291 rs75005588 A C 31.70 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=11;Dels=0.0;FS=6.99;HRun=1;HaplotypeScore=0.0;MQ=46.55;MQ0=0;MQRankSum=-2.52;QD=2.88;ReadPosRankSum=-1.246;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC127391.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000445663 GT:AD:DP:GQ:PL 0/1:7,4:11:61.69:62,0,216
2 92075497 . A AGC 66.82 QDFilter2 AB=0.961;AC=1;AF=0.50;AN=2;BaseQRankSum=5.794;DP=197;FS=13.427;HRun=0;HaplotypeScore=691.552;IndelType=I;MQ=50.23;MQ0=1;MQRankSum=-5.608;QD=0.34;ReadPosRankSum=-0.093;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC127391.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398120 GT:AD:DP:GQ:PL 0/1:191,8:197:99:106,0,8237
2 92075583 rs11240888 C T 274.84 HaplotypeScoreFilter13;MQFilter40;QDFilter2 AB=0.839;AC=1;AF=0.50;AN=2;BaseQRankSum=3.766;DB;DP=248;DS;Dels=0.0;FS=13.627;HRun=2;HaplotypeScore=14.1734;MQ=36.24;MQ0=43;MQRankSum=-4.179;QD=1.11;ReadPosRankSum=0.474;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC127391.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398120 GT:AD:DP:GQ:PL 0/1:208,40:248:99:305,0,4522
2 92075596 rs11240889 C T 351.14 HaplotypeScoreFilter13;MQFilter40;QDFilter2 AB=0.824;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.569;DB;DP=250;DS;Dels=0.0;FS=9.063;HRun=0;HaplotypeScore=15.829;MQ=35.11;MQ0=43;MQRankSum=-3.566;QD=1.4;ReadPosRankSum=0.182;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC127391.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398120 GT:AD:DP:GQ:PL 0/1:206,44:250:99:381,0,4655
2 92075615 rs111681132 A G 535.37 HaplotypeScoreFilter13;MQFilter40 AB=0.794;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.189;DB;DP=228;DS;Dels=0.0;FS=3.389;HRun=1;HaplotypeScore=19.5348;MQ=38.43;MQ0=28;MQRankSum=-4.337;QD=2.35;ReadPosRankSum=0.6;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC127391.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398120 GT:AD:DP:GQ:PL 0/1:181,47:228:99:565,0,4318
2 92075618 rs113086124 T C 509.25 HaplotypeScoreFilter13;MQFilter40 AB=0.793;AC=1;AF=0.50;AN=2;BaseQRankSum=3.639;DB;DP=218;DS;Dels=0.0;FS=2.504;HRun=0;HaplotypeScore=32.2906;MQ=38.97;MQ0=27;MQRankSum=-4.328;QD=2.34;ReadPosRankSum=0.7;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC127391.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398120 GT:AD:DP:GQ:PL 0/1:172,45:218:99:539,0,4121
2 92075681 rs11240890 G C 331.83 MQFilter40 AB=0.766;AC=1;AF=0.50;AN=2;BaseQRankSum=1.041;DB;DP=141;DS;Dels=0.0;FS=2.895;HRun=3;HaplotypeScore=1.8188;MQ=38.84;MQ0=28;MQRankSum=-3.628;QD=2.35;ReadPosRankSum=-1.46;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC127391.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398120 GT:AD:DP:GQ:PL 0/1:108,33:141:99:362,0,2554
2 92076665 rs76918554 A T 30.73 QDFilter2 AB=0.69;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.343;DB;DP=42;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.4272;MQ=47.99;MQ0=4;MQRankSum=-4.292;QD=0.73;ReadPosRankSum=1.545;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC127391.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398120 GT:AD:DP:GQ:PL 0/1:29,13:42:60.72:61,0,1014
2 92076698 rs181746631 T C 45.16 QDFilter2 AB=0.679;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.18;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.1765;MQ=48.57;MQ0=1;MQRankSum=-3.472;QD=1.61;ReadPosRankSum=0.54;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC127391.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398120 GT:AD:DP:GQ:PL 0/1:19,9:28:75.15:75,0,579
2 92080283 rs79677867 T G 31.85 MQFilter40;QDFilter2 AB=0.862;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.419;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=30.33;MQ0=6;MQRankSum=-0.608;QD=1.1;ReadPosRankSum=-0.608;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC127391.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398120 GT:AD:DP:GQ:PL 0/1:25,4:29:61.84:62,0,524
2 92080359 rs62151914 T C 42.57 MQFilter40;QDFilter2 AB=0.757;AC=1;AF=0.50;AN=2;BaseQRankSum=1.26;DB;DP=74;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=4.9191;MQ=19.1;MQ0=37;MQRankSum=-0.834;QD=0.58;ReadPosRankSum=1.881;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC127391.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398120 GT:AD:DP:GQ:PL 0/1:56,18:74:72.57:73,0,609
2 92080363 rs146803324 T C 33.59 MQFilter40;QDFilter2 AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=2.485;DB;DP=76;Dels=0.0;FS=2.508;HRun=0;HaplotypeScore=4.9191;MQ=19.28;MQ0=36;MQRankSum=-0.997;QD=0.44;ReadPosRankSum=1.2;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC127391.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398120 GT:AD:DP:GQ:PL 0/1:57,19:76:63.58:64,0,670
2 92080656 rs149545478 T C 53.58 MQFilter40;QDFilter2 AB=0.757;AC=1;AF=0.50;AN=2;BaseQRankSum=1.646;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=24.45;MQ0=0;MQRankSum=-2.779;QD=1.45;ReadPosRankSum=-0.619;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC127391.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398120 GT:AD:DP:GQ:PL 0/1:28,9:37:83.58:84,0,638
2 92080686 rs146723204 C G 91.97 MQFilter40 AB=0.654;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.871;DB;DP=26;Dels=0.0;FS=3.68;HRun=0;HaplotypeScore=3.9389;MQ=23.1;MQ0=3;MQRankSum=0.871;QD=3.54;ReadPosRankSum=-1.388;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC127391.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398120 GT:AD:DP:GQ:PL 0/1:17,9:26:99:122,0,337
2 92101901 rs79845517 A G 154.86 MQFilter40 AB=0.581;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.315;DB;DP=31;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=26.7;MQ0=9;MQRankSum=-1.599;QD=5.0;ReadPosRankSum=1.03;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC127391.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398120 GT:AD:DP:GQ:PL 0/1:18,13:31:99:185,0,215
2 92101935 . CT C 898.69 PASS AB=0.703;AC=1;AF=0.50;AN=2;BaseQRankSum=5.263;DP=47;FS=0.0;HRun=3;HaplotypeScore=142.5551;IndelType=D;MQ=17.99;MQ0=30;MQRankSum=-0.558;QD=10.83;ReadPosRankSum=0.471;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC127391.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398120 GT:AD:DP:GQ:PL 0/1:48,35:47:99:938,0,637
2 92102168 rs4927413 C T 1928.31 MQFilter40 AB=0.576;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.565;DB;DP=224;DS;Dels=0.0;FS=24.367;HRun=2;HaplotypeScore=1.9092;MQ=38.31;MQ0=26;MQRankSum=-5.976;QD=8.57;ReadPosRankSum=1.456;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC127391.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398120 GT:AD:DP:GQ:PL 0/1:129,95:224:99:1958,0,2905
2 92102211 rs3968138 A G 504.09 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=4.645;DB;DP=155;DS;Dels=0.0;FS=16.103;HRun=1;HaplotypeScore=1.933;MQ=44.42;MQ0=8;MQRankSum=-9.261;QD=3.25;ReadPosRankSum=-0.599;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC127391.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398120 GT:AD:DP:GQ:PL 0/1:99,55:155:99:534,0,3289
2 92102248 rs56299025 C T 96.85 QDFilter2 AB=0.802;AC=1;AF=0.50;AN=2;BaseQRankSum=1.211;DB;DP=106;DS;Dels=0.0;FS=6.813;HRun=1;HaplotypeScore=4.6988;MQ=49.86;MQ0=3;MQRankSum=-5.684;QD=0.91;ReadPosRankSum=-3.044;SNPEFF_EFFECT=SPLICE_SITE_ACCEPTOR;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC127391.5;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000398120 GT:AD:DP:GQ:PL 0/1:85,21:106:99:127,0,2612
2 92119432 rs75316624 T C 77.78 MQFilter40 AB=0.793;AC=1;AF=0.50;AN=2;BaseQRankSum=2.282;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=6.5189;MQ=27.17;MQ0=3;MQRankSum=-1.065;QD=2.68;ReadPosRankSum=0.03;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC127391.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398120 GT:AD:DP:GQ:PL 0/1:23,6:29:99:108,0,480
2 92119472 rs7607493 T G 91.16 MQFilter40;QDFilter2 AB=0.827;AC=1;AF=0.50;AN=2;BaseQRankSum=0.377;DB;DP=81;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=21.06;MQ0=20;MQRankSum=0.09;QD=1.13;ReadPosRankSum=0.233;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC127391.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398120 GT:AD:DP:GQ:PL 0/1:67,14:81:99:121,0,980
2 92119485 . T G 69.19 MQFilter40;QDFilter2 AB=0.685;AC=1;AF=0.50;AN=2;BaseQRankSum=2.36;DP=92;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=19.65;MQ0=20;MQRankSum=-2.493;QD=0.75;ReadPosRankSum=-1.763;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC127391.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398120 GT:AD:DP:GQ:PL 0/1:63,29:92:99:99,0,1214
2 92119518 rs148331796 A G 730.48 MQFilter40 AB=0.619;AC=1;AF=0.50;AN=2;BaseQRankSum=0.954;DB;DP=155;Dels=0.0;FS=18.101;HRun=0;HaplotypeScore=0.6651;MQ=20.95;MQ0=20;MQRankSum=0.547;QD=4.71;ReadPosRankSum=0.229;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC127391.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398120 GT:AD:DP:GQ:PL 0/1:96,59:155:99:760,0,1696
2 92119526 rs146634276 TG T 1556.71 PASS AB=0.735;AC=1;AF=0.50;AN=2;BaseQRankSum=8.768;DB;DP=131;FS=4.335;HRun=1;HaplotypeScore=561.1302;IndelType=D;MQ=20.02;MQ0=34;MQRankSum=0.943;QD=8.9;ReadPosRankSum=0.179;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC127391.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398120 GT:AD:DP:GQ:PL 0/1:112,63:131:99:1596,0,3489
2 92119644 . C T 233.50 MQFilter40;QDFilter2 AB=0.678;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.576;DP=215;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.8317;MQ=9.88;MQ0=150;MQRankSum=1.684;QD=1.09;ReadPosRankSum=2.111;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC127391.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398120 GT:AD:DP:GQ:PL 0/1:145,69:215:99:263,0,333
2 92119694 . T C 189.92 MQFilter40;QDFilter2 AB=0.628;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.897;DP=234;DS;Dels=0.0;FS=3.979;HRun=0;HaplotypeScore=9.6847;MQ=8.37;MQ0=186;MQRankSum=-0.441;QD=0.81;ReadPosRankSum=-0.86;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC127391.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398120 GT:AD:DP:GQ:PL 0/1:147,87:234:99:220,0,251
2 92119733 . A T 89.71 MQFilter40;QDFilter2 AB=0.662;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.553;DP=216;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=6.86;MQ0=188;MQRankSum=-0.875;QD=0.42;ReadPosRankSum=1.474;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC127391.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398120 GT:AD:DP:GQ:PL 0/1:143,73:216:99:120,0,220
2 92119751 . G C 80.06 MQFilter40;QDFilter2 AB=0.644;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.812;DP=178;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=5.71;MQ0=157;MQRankSum=-0.036;QD=0.45;ReadPosRankSum=-0.888;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC127391.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398120 GT:AD:DP:GQ:PL 0/1:114,63:178:87.42:110,0,87
2 95484342 . T A 56.60 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=1.517;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9894;MQ=46.58;MQ0=0;MQRankSum=0.322;QD=7.08;ReadPosRankSum=0.322;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=ANKRD20A8P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000432432 GT:AD:DP:GQ:PL 0/1:5,3:8:86.60:87,0,150
2 95524571 rs112371851 G A 106.46 PASS AB=0.704;AC=1;AF=0.50;AN=2;BaseQRankSum=1.861;DB;DP=27;Dels=0.0;FS=6.021;HRun=0;HaplotypeScore=0.5784;MQ=44.93;MQ0=0;MQRankSum=-1.639;QD=3.94;ReadPosRankSum=-0.083;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=ANKRD20A8P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000432432 GT:AD:DP:GQ:PL 0/1:19,8:27:99:136,0,443
2 95524613 rs73957727 C G 255.70 PASS AB=0.688;AC=1;AF=0.50;AN=2;BaseQRankSum=0.467;DB;DP=48;Dels=0.0;FS=3.366;HRun=1;HaplotypeScore=0.0;MQ=45.69;MQ0=0;MQRankSum=-1.868;QD=5.33;ReadPosRankSum=0.0;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=ANKRD20A8P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000432432 GT:AD:DP:GQ:PL 0/1:33,15:48:99:286,0,1053
2 95524619 rs113803378 C T 264.69 PASS AB=0.712;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.602;DB;DP=52;Dels=0.0;FS=3.308;HRun=0;HaplotypeScore=0.734;MQ=45.93;MQ0=0;MQRankSum=-2.243;QD=5.09;ReadPosRankSum=0.486;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=ANKRD20A8P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000432432 GT:AD:DP:GQ:PL 0/1:37,15:52:99:295,0,1138
2 95524679 rs76199054 C G 172.50 MQFilter40 AB=0.823;AC=1;AF=0.50;AN=2;BaseQRankSum=0.123;DB;DP=62;Dels=0.0;FS=3.04;HRun=0;HaplotypeScore=0.8321;MQ=36.55;MQ0=13;MQRankSum=-1.128;QD=2.78;ReadPosRankSum=-0.343;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=ANKRD20A8P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000432432 GT:AD:DP:GQ:PL 0/1:51,11:62:99:202,0,1053
2 95524706 . T C 105.17 MQFilter40;QDFilter2 AB=0.873;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.52;DP=71;Dels=0.0;FS=3.927;HRun=0;HaplotypeScore=0.0;MQ=30.86;MQ0=20;MQRankSum=-0.877;QD=1.48;ReadPosRankSum=-0.358;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=ANKRD20A8P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000432432 GT:AD:DP:GQ:PL 0/1:62,9:71:99:135,0,1055
2 95524841 rs182478322 C T 46.34 MQFilter40 AB=0.786;AC=1;AF=0.50;AN=2;BaseQRankSum=1.422;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=22.13;MQ0=5;MQRankSum=1.422;QD=3.31;ReadPosRankSum=-1.001;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=ANKRD20A8P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000432432 GT:AD:DP:GQ:PL 0/1:11,3:14:76.33:76,0,103
2 95766599 rs115258802 C T 119.98 PASS AB=0.762;AC=1;AF=0.50;AN=2;BaseQRankSum=1.309;DB;DP=21;Dels=0.0;FS=4.964;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.349;QD=5.71;ReadPosRankSum=2.182;SNPEFF_AMINO_ACID_CHANGE=R284Q;SNPEFF_CODON_CHANGE=cGa/cAa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_95766582_95766639;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MRPS5;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000272418 GT:AD:DP:GQ:PL 0/1:16,5:21:99:150,0,502
2 95816017 rs34282100 T TA 156.36 QDFilter2 AB=0.773;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.903;DB;DP=85;FS=7.707;HRun=19;HaplotypeScore=627.287;IndelType=I;MQ=50.33;MQ0=0;MQRankSum=1.147;QD=1.84;ReadPosRankSum=-0.073;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ZNF514;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000447814 GT:AD:DP:GQ:PL 0/1:57,23:85:53.61:195,0,54
2 95830652 rs6719142 T C 523.70 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=62.13;MQ0=0;QD=34.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ZNF514;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000447814 GT:AD:DP:GQ:PL 1/1:0,15:15:42.14:557,42,0
2 95830737 rs11459000 C CA 3055.03 PASS AC=2;AF=1.00;AN=2;DB;DP=82;FS=0.0;HRun=5;HaplotypeScore=185.5081;IndelType=I;MQ=61.34;MQ0=0;QD=37.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ZNF514;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000447814 GT:AD:DP:GQ:PL 1/1:2,80:82:99:3097,238,0
2 95843080 rs35376938 TC T 366.81 PASS AC=2;AF=1.00;AN=2;DB;DP=11;FS=0.0;HRun=3;HaplotypeScore=29.979;IndelType=D;MQ=60.98;MQ0=0;QD=33.35;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295210 GT:AD:DP:GQ:PL 1/1:0,11:11:33.10:409,33,0
2 95846158 rs3112230 T C 174.14 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.02;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295210 GT:AD:DP:GQ:PL 1/1:0,6:6:18.03:207,18,0
2 95847040 rs10578519 TGCG T 2982.74 PASS AC=2;AF=1.00;AN=2;DB;DP=82;FS=0.0;HRun=0;HaplotypeScore=360.1108;IndelType=D;MQ=59.62;MQ0=0;QD=36.37;SNPEFF_AMINO_ACID_CHANGE=LR114L;SNPEFF_CODON_CHANGE=ttgcgg/ttg;SNPEFF_EFFECT=CODON_DELETION;SNPEFF_EXON_ID=exon_2_95846848_95850065;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000398107 GT:AD:DP:GQ:PL 1/1:14,68:82:99:3025,196,0
2 95848018 rs3105105 T C 85.60 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.44;MQ0=0;QD=28.53;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000453539 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:118,9,0
2 95945568 rs7585914 G A 660.60 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.07;MQ0=0;QD=26.42;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PROM2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463580 GT:AD:DP:GQ:PL 1/1:0,24:25:51.16:694,51,0
2 95945830 rs7586229 G T 206.56 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.43;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PROM2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463580 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:239,18,0
2 95947085 rs12992066 A G 1059.29 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.628;DB;DP=33;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.43;MQ0=0;MQRankSum=-1.523;QD=32.1;ReadPosRankSum=0.578;SNPEFF_AMINO_ACID_CHANGE=Q508R;SNPEFF_CODON_CHANGE=cAg/cGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_95946990_95947113;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PROM2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000317620 GT:AD:DP:GQ:PL 1/1:1,32:33:44.64:1092,45,0
2 95952177 rs7602232 C G 336.12 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=57.87;MQ0=0;QD=30.56;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PROM2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317620 GT:AD:DP:GQ:PL 1/1:0,11:11:30.09:369,30,0
2 95952641 rs1006021 A G 305.15 PASS AB=0.536;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.373;DB;DP=28;Dels=0.0;FS=9.204;HRun=4;HaplotypeScore=1.8662;MQ=57.48;MQ0=0;MQRankSum=0.267;QD=10.9;ReadPosRankSum=0.364;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PROM2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000497110 GT:AD:DP:GQ:PL 0/1:15,13:28:99:335,0,420
2 96012907 rs7602807 C G 129.47 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.89;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNIP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295225 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:162,12,0
2 96076409 rs6577014 C T 90.83 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=34.38;MQ0=1;QD=11.35;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAHD2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418606 GT:AD:DP:GQ:PL 1/1:0,8:8:9.03:123,9,0
2 96184423 rs1862896 C A 902.45 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.28;MQ0=0;QD=37.6;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC009237.7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427305 GT:AD:DP:GQ:PL 1/1:0,24:24:72.23:935,72,0
2 96185714 rs35256168 C T 1519.82 PASS AB=0.368;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.7;DB;DP=76;Dels=0.0;FS=0.943;HRun=0;HaplotypeScore=0.8321;MQ=59.45;MQ0=0;MQRankSum=0.339;QD=20.0;ReadPosRankSum=1.125;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC009237.7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427305 GT:AD:DP:GQ:PL 0/1:28,48:76:99:1550,0,790
2 96212699 rs36087694 G A 3161.91 PASS AB=0.502;AC=1;AF=0.50;AN=2;BaseQRankSum=3.64;DB;DP=201;Dels=0.0;FS=4.051;HRun=1;HaplotypeScore=0.734;MQ=57.39;MQ0=0;MQRankSum=1.113;QD=15.73;ReadPosRankSum=0.361;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=tRNA_pseudogene;SNPEFF_GENE_NAME=AC009237.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000489179 GT:AD:DP:GQ:PL 0/1:101,100:201:99:3192,0,2826
2 96260979 rs7565318 T C 710.33 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.8;MQ0=1;QD=37.39;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRIM43;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272395 GT:AD:DP:GQ:PL 1/1:0,19:19:54.18:743,54,0
2 96265165 . C T 55.81 MQFilter40;QDFilter2 AB=0.554;AC=1;AF=0.50;AN=2;BaseQRankSum=0.322;DP=195;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=5.32;MQ0=187;MQRankSum=0.322;QD=0.29;ReadPosRankSum=0.322;SNPEFF_AMINO_ACID_CHANGE=Y395;SNPEFF_CODON_CHANGE=taC/taT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_96264840_96265526;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRIM43;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000272395 GT:AD:DP:GQ:PL 0/1:108,87:195:76.49:86,0,76
2 96265407 . C CT 116.64 PASS AB=0.686;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.637;DP=11;FS=0.0;HRun=6;HaplotypeScore=21.7391;IndelType=I;MQ=21.0;MQ0=13;MQRankSum=0.143;QD=4.86;ReadPosRankSum=-0.825;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRIM43;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272395 GT:AD:DP:GQ:PL 0/1:13,11:11:99:156,0,151
2 96504594 rs11676926 C T 1137.29 PASS AB=0.519;AC=1;AF=0.50;AN=2;BaseQRankSum=0.194;DB;DP=81;Dels=0.0;FS=5.881;HRun=3;HaplotypeScore=0.5784;MQ=56.28;MQ0=0;MQRankSum=0.874;QD=14.04;ReadPosRankSum=-0.591;SNPEFF_EFFECT=INTERGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 0/1:42,39:81:99:1167,0,1301
2 96519753 . C T 248.27 MQFilter40 AC=2;AF=1.00;AN=2;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=29.85;MQ0=1;QD=24.83;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000531153 GT:AD:DP:GQ:PL 1/1:0,10:10:24.06:281,24,0
2 96521138 rs5005871 T C 783.38 FSFilter60;MQFilter40 AB=0.588;AC=1;AF=0.50;AN=2;BaseQRankSum=2.613;DB;DP=250;DS;Dels=0.0;FS=97.33;HRun=0;HaplotypeScore=5.5514;MQ=39.07;MQ0=10;MQRankSum=-11.816;QD=3.13;ReadPosRankSum=-3.626;SNPEFF_AMINO_ACID_CHANGE=N1624S;SNPEFF_CODON_CHANGE=aAc/aGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_96521014_96521928;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:147,103:250:99:813,0,4529
2 96521220 rs5005870 G A 1083.20 MQFilter40 AB=0.532;AC=1;AF=0.50;AN=2;BaseQRankSum=1.796;DB;DP=203;DS;Dels=0.0;FS=0.644;HRun=1;HaplotypeScore=2.7377;MQ=27.93;MQ0=16;MQRankSum=-6.079;QD=5.34;ReadPosRankSum=0.4;SNPEFF_AMINO_ACID_CHANGE=L1597;SNPEFF_CODON_CHANGE=Ctg/Ttg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_96521014_96521928;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:108,95:203:99:1113,0,2432
2 96521297 rs5005869 T C 1097.57 MQFilter40 AB=0.624;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.598;DB;DP=234;DS;Dels=0.0;FS=57.558;HRun=0;HaplotypeScore=1.6988;MQ=32.24;MQ0=7;MQRankSum=-6.452;QD=4.69;ReadPosRankSum=-2.202;SNPEFF_AMINO_ACID_CHANGE=N1571S;SNPEFF_CODON_CHANGE=aAt/aGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_96521014_96521928;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:146,88:234:99:1128,0,3691
2 96521324 rs5005868 A G 138.18 HaplotypeScoreFilter13;MQFilter40;QDFilter2 AB=0.763;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.666;DB;DP=194;DS;Dels=0.0;FS=35.052;HRun=0;HaplotypeScore=13.9637;MQ=30.4;MQ0=12;MQRankSum=-4.788;QD=0.71;ReadPosRankSum=-6.451;SNPEFF_AMINO_ACID_CHANGE=I1562T;SNPEFF_CODON_CHANGE=aTt/aCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_96521014_96521928;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:148,46:194:99:168,0,3440
2 96523006 rs12717776 A C 1471.15 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=36.69;MQ0=10;QD=25.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000419039 GT:AD:DP:GQ:PL 1/1:8,50:58:99:1504,114,0
2 96523009 rs12717777 A C 1411.12 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=35.4;MQ0=12;QD=22.4;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000419039 GT:AD:DP:GQ:PL 1/1:8,55:63:99:1444,114,0
2 96523047 rs12717778 A G 1526.86 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=107;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=28.38;MQ0=27;QD=14.27;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000419039 GT:AD:DP:GQ:PL 1/1:18,89:107:99:1560,135,0
2 96523096 rs10211258 T C 2858.03 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=165;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=3.4468;MQ=26.74;MQ0=36;QD=17.32;SNPEFF_AMINO_ACID_CHANGE=A1347;SNPEFF_CODON_CHANGE=gcA/gcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_96523057_96523240;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 1/1:25,140:165:99:2891,273,0
2 96525453 rs73958141 T A 49.40 MQFilter40 AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.3;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=34.45;MQ0=0;MQRankSum=-0.55;QD=7.06;ReadPosRankSum=1.754;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000419039 GT:AD:DP:GQ:PL 0/1:3,4:7:66.06:79,0,66
2 96525483 rs112872957 C T 213.39 MQFilter40 AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.551;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=27.11;MQ0=0;MQRankSum=0.551;QD=14.23;ReadPosRankSum=-0.061;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000419039 GT:AD:DP:GQ:PL 0/1:5,10:15:70.14:243,0,70
2 96525507 rs140490087 C T 363.14 MQFilter40 AB=0.292;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.762;DB;DP=24;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=26.22;MQ0=0;MQRankSum=1.143;QD=15.13;ReadPosRankSum=-0.445;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000419039 GT:AD:DP:GQ:PL 0/1:7,17:24:85.52:393,0,86
2 96525532 rs145519218 G A 356.49 MQFilter40 AB=0.391;AC=1;AF=0.50;AN=2;BaseQRankSum=5.661;DB;DP=46;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=26.12;MQ0=0;MQRankSum=0.169;QD=7.75;ReadPosRankSum=2.104;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000419039 GT:AD:DP:GQ:PL 0/1:18,28:46:99:386,0,346
2 96525533 rs150757101 C T 356.48 MQFilter40 AB=0.391;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.564;DB;DP=46;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=26.12;MQ0=0;MQRankSum=0.349;QD=7.75;ReadPosRankSum=2.172;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000419039 GT:AD:DP:GQ:PL 0/1:18,28:46:99:386,0,361
2 96525545 rs112575422 T C 600.04 MQFilter40 AB=0.441;AC=1;AF=0.50;AN=2;BaseQRankSum=0.42;DB;DP=59;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=27.9;MQ0=0;MQRankSum=-0.725;QD=10.17;ReadPosRankSum=1.702;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000419039 GT:AD:DP:GQ:PL 0/1:26,33:59:99:630,0,579
2 96525556 rs112217943 C T 612.85 MQFilter40 AB=0.446;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.608;DB;DP=83;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=32.54;MQ0=0;MQRankSum=-2.203;QD=7.38;ReadPosRankSum=0.087;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000419039 GT:AD:DP:GQ:PL 0/1:37,46:83:99:643,0,945
2 96525576 rs150177125 C T 815.05 MQFilter40 AB=0.415;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.606;DB;DP=135;Dels=0.0;FS=1.373;HRun=0;HaplotypeScore=2.713;MQ=33.71;MQ0=0;MQRankSum=-6.232;QD=6.04;ReadPosRankSum=-3.075;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000419039 GT:AD:DP:GQ:PL 0/1:56,79:135:99:845,0,1553
2 96525610 . T C 44.19 MQFilter40;QDFilter2 AB=0.88;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.152;DP=217;Dels=0.0;FS=6.842;HRun=2;HaplotypeScore=3.1592;MQ=37.23;MQ0=0;MQRankSum=-2.023;QD=0.2;ReadPosRankSum=-0.202;SNPEFF_AMINO_ACID_CHANGE=R1299G;SNPEFF_CODON_CHANGE=Aga/Gga;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_96525609_96525822;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:191,26:217:74.18:74,0,4259
2 96525640 rs77864759 G T 1104.62 HaplotypeScoreFilter13 AB=0.605;AC=1;AF=0.50;AN=2;BaseQRankSum=1.747;DB;DP=233;Dels=0.0;FS=6.283;HRun=1;HaplotypeScore=46.8007;MQ=40.5;MQ0=0;MQRankSum=-6.457;QD=4.74;ReadPosRankSum=1.331;SNPEFF_AMINO_ACID_CHANGE=L1289I;SNPEFF_CODON_CHANGE=Ctt/Att;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_96525609_96525822;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:141,92:233:99:1135,0,3667
2 96525643 rs75198192 T C 311.44 HaplotypeScoreFilter13;QDFilter2 AB=0.811;AC=1;AF=0.50;AN=2;BaseQRankSum=3.195;DB;DP=233;Dels=0.0;FS=5.768;HRun=0;HaplotypeScore=88.2636;MQ=41.06;MQ0=0;MQRankSum=-4.553;QD=1.34;ReadPosRankSum=1.351;SNPEFF_AMINO_ACID_CHANGE=T1288A;SNPEFF_CODON_CHANGE=Aca/Gca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_96525609_96525822;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:189,44:233:99:341,0,4459
2 96525652 rs77710257 T C 1815.88 HaplotypeScoreFilter13 AB=0.442;AC=1;AF=0.50;AN=2;BaseQRankSum=2.974;DB;DP=233;Dels=0.0;FS=4.573;HRun=0;HaplotypeScore=82.5221;MQ=40.9;MQ0=0;MQRankSum=-9.657;QD=7.79;ReadPosRankSum=2.518;SNPEFF_AMINO_ACID_CHANGE=K1285E;SNPEFF_CODON_CHANGE=Aag/Gag;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_96525609_96525822;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:103,130:233:99:1846,0,3114
2 96525659 rs72931750 C T 1037.19 HaplotypeScoreFilter13 AB=0.658;AC=1;AF=0.50;AN=2;BaseQRankSum=1.616;DB;DP=219;Dels=0.0;FS=1.389;HRun=0;HaplotypeScore=40.2619;MQ=41.1;MQ0=0;MQRankSum=-5.663;QD=4.74;ReadPosRankSum=2.823;SNPEFF_AMINO_ACID_CHANGE=S1282;SNPEFF_CODON_CHANGE=tcG/tcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_96525609_96525822;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:144,75:219:99:1067,0,3633
2 96525717 rs111957693 A AT 444.28 PASS AB=0.745;AC=1;AF=0.50;AN=2;BaseQRankSum=7.88;DB;DP=140;FS=48.637;HRun=0;HaplotypeScore=915.8749;IndelType=I;MQ=44.37;MQ0=0;MQRankSum=-6.867;QD=2.34;ReadPosRankSum=-0.498;SNPEFF_EFFECT=FRAME_SHIFT;SNPEFF_EXON_ID=exon_2_96525609_96525822;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000419039 GT:AD:DP:GQ:PL 0/1:125,64:140:99:483,0,4058
2 96546352 rs189877528 G A 668.79 MQFilter40 AB=0.678;AC=1;AF=0.50;AN=2;BaseQRankSum=0.692;DB;DP=121;Dels=0.0;FS=3.744;HRun=0;HaplotypeScore=0.9665;MQ=28.35;MQ0=35;MQRankSum=0.487;QD=5.53;ReadPosRankSum=0.183;SNPEFF_AMINO_ACID_CHANGE=P1129;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_96546343_96546371;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:82,39:121:99:699,0,1252
2 96548068 rs11695514 C T 1052.01 MQFilter40 AB=0.624;AC=1;AF=0.50;AN=2;BaseQRankSum=2.449;DB;DP=133;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9734;MQ=36.82;MQ0=5;MQRankSum=1.756;QD=7.91;ReadPosRankSum=-1.012;SNPEFF_AMINO_ACID_CHANGE=G1117S;SNPEFF_CODON_CHANGE=Ggt/Agt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_96548050_96548122;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:83,50:133:99:1082,0,1984
2 96551974 . A G 35.63 MQFilter40 AC=2;AF=1.00;AN=2;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=14.5;MQ0=6;QD=4.45;SNPEFF_AMINO_ACID_CHANGE=L1027P;SNPEFF_CODON_CHANGE=cTg/cCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_96551964_96551992;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 1/1:0,8:8:6.02:67,6,0
2 96553772 rs4907218 G C 1151.79 PASS AB=0.609;AC=1;AF=0.50;AN=2;BaseQRankSum=2.355;DB;DP=133;Dels=0.0;FS=2.391;HRun=0;HaplotypeScore=0.734;MQ=46.47;MQ0=4;MQRankSum=-9.187;QD=8.66;ReadPosRankSum=1.041;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295246 GT:AD:DP:GQ:PL 0/1:81,52:133:99:1182,0,2624
2 96555522 rs12471925 C A 612.09 PASS AB=0.629;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.578;DB;DP=70;Dels=0.0;FS=3.843;HRun=0;HaplotypeScore=0.8667;MQ=49.66;MQ0=1;MQRankSum=-6.872;QD=8.74;ReadPosRankSum=0.418;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295246 GT:AD:DP:GQ:PL 0/1:44,26:70:99:642,0,1525
2 96563206 rs4907220 A T 141.47 MQFilter40;QDFilter2 AB=0.624;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.572;DB;DP=117;Dels=0.0;FS=23.678;HRun=0;HaplotypeScore=0.0;MQ=25.27;MQ0=35;MQRankSum=-2.831;QD=1.21;ReadPosRankSum=-1.298;SNPEFF_AMINO_ACID_CHANGE=S240;SNPEFF_CODON_CHANGE=tcT/tcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_96563185_96563213;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000295246 GT:AD:DP:GQ:PL 0/1:73,44:117:99:171,0,1597
2 96569017 rs62153692 C T 138.82 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=2.793;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=49.18;MQ0=0;MQRankSum=-0.38;QD=11.57;ReadPosRankSum=-1.134;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295246 GT:AD:DP:GQ:PL 0/1:7,5:12:99:169,0,189
2 96574551 . C T 214.06 MQFilter40 AB=0.64;AC=1;AF=0.50;AN=2;BaseQRankSum=4.431;DP=50;Dels=0.0;FS=8.759;HRun=0;HaplotypeScore=0.5784;MQ=25.42;MQ0=15;MQRankSum=-0.087;QD=4.28;ReadPosRankSum=-1.685;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295246 GT:AD:DP:GQ:PL 0/1:32,18:50:99:244,0,559
2 96578247 rs58719199 G A 1120.13 PASS AB=0.495;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.202;DB;DP=95;Dels=0.0;FS=1.095;HRun=0;HaplotypeScore=2.927;MQ=48.11;MQ0=1;MQRankSum=-7.002;QD=11.79;ReadPosRankSum=-1.248;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295246 GT:AD:DP:GQ:PL 0/1:47,48:95:99:1150,0,1479
2 96580165 rs62153699 T C 435.69 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.452;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.705;QD=14.52;ReadPosRankSum=-0.373;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295246 GT:AD:DP:GQ:PL 0/1:15,15:30:99:466,0,534
2 96583735 rs4605406 A C 769.52 PASS AB=0.695;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.731;DB;DP=152;Dels=0.0;FS=58.306;HRun=0;HaplotypeScore=4.2833;MQ=48.21;MQ0=8;MQRankSum=-6.1;QD=5.06;ReadPosRankSum=-1.413;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295246 GT:AD:DP:GQ:PL 0/1:105,46:152:99:800,0,3292
2 96583823 rs4613327 G A 150.34 QDFilter2 AB=0.745;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.601;DB;DP=102;Dels=0.0;FS=1.241;HRun=0;HaplotypeScore=1.9132;MQ=52.42;MQ0=8;MQRankSum=-6.569;QD=1.47;ReadPosRankSum=0.793;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295246 GT:AD:DP:GQ:PL 0/1:76,26:102:99:180,0,2570
2 96585613 rs12471927 C A 1391.81 MQFilter40 AB=0.567;AC=1;AF=0.50;AN=2;BaseQRankSum=2.204;DB;DP=141;Dels=0.0;FS=23.296;HRun=1;HaplotypeScore=0.0;MQ=32.19;MQ0=4;MQRankSum=1.016;QD=9.87;ReadPosRankSum=0.342;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295246 GT:AD:DP:GQ:PL 0/1:80,61:141:99:1422,0,1702
2 96585703 . A G 399.67 MQFilter40 AB=0.529;AC=1;AF=0.50;AN=2;BaseQRankSum=2.166;DP=138;Dels=0.0;FS=4.773;HRun=0;HaplotypeScore=0.0;MQ=37.74;MQ0=6;MQRankSum=-8.111;QD=2.9;ReadPosRankSum=-1.529;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295246 GT:AD:DP:GQ:PL 0/1:73,65:138:99:430,0,2091
2 96587496 rs56791141 C T 2053.93 PASS AB=0.497;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.319;DB;DP=145;Dels=0.0;FS=1.339;HRun=2;HaplotypeScore=1.612;MQ=58.82;MQ0=0;MQRankSum=0.726;QD=14.17;ReadPosRankSum=1.014;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295246 GT:AD:DP:GQ:PL 0/1:72,73:145:99:2084,0,2142
2 96593217 rs138857764 AT A 59.06 QDFilter2 AB=0.877;AC=1;AF=0.50;AN=2;BaseQRankSum=5.67;DB;DP=127;FS=10.364;HRun=2;HaplotypeScore=536.2169;IndelType=D;MQ=54.06;MQ0=3;MQRankSum=-5.644;QD=0.44;ReadPosRankSum=-2.317;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:116,19:127:98.09:98,0,4566
2 96593340 rs77793306 C G 56.50 MQFilter40;QDFilter2 AB=0.436;AC=1;AF=0.50;AN=2;BaseQRankSum=3.034;DB;DP=39;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=38.51;MQ0=6;MQRankSum=-4.843;QD=1.45;ReadPosRankSum=1.753;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:17,22:39:86.50:86,0,591
2 96593436 rs62153706 C T 279.47 MQFilter40 AB=0.083;AC=1;AF=0.50;AN=2;BaseQRankSum=0.579;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9966;MQ=28.76;MQ0=0;MQRankSum=1.159;QD=23.29;ReadPosRankSum=-1.448;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:1,11:12:0.34:308,0,0
2 96594648 rs75444333 A G 74.86 MQFilter40 AB=0.267;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.636;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9578;MQ=28.02;MQ0=1;MQRankSum=-2.899;QD=4.99;ReadPosRankSum=-1.061;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:4,11:15:99:105,0,136
2 96594697 rs72931795 G C 189.05 MQFilter40 AB=0.486;AC=1;AF=0.50;AN=2;BaseQRankSum=3.479;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=38.09;MQ0=0;MQRankSum=-4.968;QD=5.11;ReadPosRankSum=3.145;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:18,19:37:99:219,0,629
2 96594723 rs78476446 A G 85.33 QDFilter2 AB=0.673;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.914;DB;DP=49;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.4538;MQ=42.99;MQ0=0;MQRankSum=-5.341;QD=1.74;ReadPosRankSum=0.373;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:33,16:49:99:115,0,1164
2 96594735 rs75927751 C T 58.89 QDFilter2 AB=0.778;AC=1;AF=0.50;AN=2;BaseQRankSum=0.739;DB;DP=54;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=46.45;MQ0=0;MQRankSum=-4.921;QD=1.09;ReadPosRankSum=-0.676;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:42,12:54:88.88:89,0,1538
2 96594742 rs75729585 C T 33.54 QDFilter2 AB=0.782;AC=1;AF=0.50;AN=2;BaseQRankSum=1.457;DB;DP=55;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=46.67;MQ0=0;MQRankSum=-4.942;QD=0.61;ReadPosRankSum=-2.843;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:43,12:55:63.53:64,0,1579
2 96594906 . G GA 40.83 QDFilter2 AB=0.841;AC=1;AF=0.50;AN=2;BaseQRankSum=5.199;DP=119;FS=21.604;HRun=3;HaplotypeScore=536.5632;IndelType=I;MQ=23.4;MQ0=64;MQRankSum=-1.587;QD=0.18;ReadPosRankSum=-0.495;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:188,44:119:79.86:80,0,3330
2 96594915 . TAATC T 190.60 QDFilter2 AB=0.828;AC=1;AF=0.50;AN=2;BaseQRankSum=4.909;DP=101;FS=24.412;HRun=0;HaplotypeScore=626.3991;IndelType=D;MQ=21.15;MQ0=68;MQRankSum=-0.938;QD=0.84;ReadPosRankSum=0.745;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:180,47:101:99:230,0,6389
2 96594966 . T G 65.63 HaplotypeScoreFilter13;MQFilter40;QDFilter2 AB=0.564;AC=1;AF=0.50;AN=2;BaseQRankSum=3.43;DP=250;DS;Dels=0.0;FS=33.193;HRun=0;HaplotypeScore=14.562;MQ=12.08;MQ0=153;MQRankSum=-3.136;QD=0.26;ReadPosRankSum=-1.717;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:141,109:250:95.62:96,0,823
2 96595032 . A T 1037.76 HaplotypeScoreFilter13;MQFilter40 AB=0.35;AC=1;AF=0.50;AN=2;BaseQRankSum=2.372;DP=247;DS;Dels=0.0;FS=0.989;HRun=1;HaplotypeScore=24.1696;MQ=13.99;MQ0=142;MQRankSum=-2.624;QD=4.2;ReadPosRankSum=1.474;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:86,160:247:99:1068,0,391
2 96595037 . TAATC T 90.62 QDFilter2 AB=0.976;AC=1;AF=0.50;AN=2;BaseQRankSum=2.866;DP=67;DS;FS=0.0;HRun=0;HaplotypeScore=479.7277;IndelType=D;MQ=13.95;MQ0=142;MQRankSum=3.744;QD=0.37;ReadPosRankSum=0.45;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:240,6:67:99:130,0,4587
2 96595110 . G A 437.07 MQFilter40 AB=0.322;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.166;DP=184;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9578;MQ=9.64;MQ0=145;MQRankSum=1.08;QD=2.38;ReadPosRankSum=0.086;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:59,124:184:12.99:467,0,13
2 96595198 . G T 65.35 MQFilter40;QDFilter2 AB=0.535;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.353;DP=43;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=14.95;MQ0=23;MQRankSum=-2.507;QD=1.52;ReadPosRankSum=-0.964;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:23,20:43:95.34:95,0,183
2 96595221 rs62153725 C T 39.63 MQFilter40;QDFilter2 AB=0.48;AC=1;AF=0.50;AN=2;BaseQRankSum=0.143;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.4538;MQ=16.44;MQ0=14;MQRankSum=-1.408;QD=1.59;ReadPosRankSum=-1.532;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:12,13:25:69.62:70,0,126
2 96601109 rs115037112 C T 151.87 MQFilter40 AB=0.71;AC=1;AF=0.50;AN=2;BaseQRankSum=0.586;DB;DP=31;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=34.32;MQ0=1;MQRankSum=0.961;QD=4.9;ReadPosRankSum=2.556;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:22,9:31:99:182,0,603
2 96601123 . G A 56.79 MQFilter40;QDFilter2 AB=0.694;AC=1;AF=0.50;AN=2;BaseQRankSum=2.154;DP=36;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=30.77;MQ0=5;MQRankSum=-2.111;QD=1.58;ReadPosRankSum=0.326;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:25,11:36:86.78:87,0,658
2 96601137 . G A 81.21 MQFilter40;QDFilter2 AB=0.711;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.646;DP=45;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=4.8267;MQ=27.93;MQ0=7;MQRankSum=-1.21;QD=1.8;ReadPosRankSum=1.011;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:32,13:45:99:111,0,693
2 96601153 . G A 102.64 MQFilter40;QDFilter2 AB=0.588;AC=1;AF=0.50;AN=2;BaseQRankSum=3.196;DP=68;Dels=0.01;FS=0.0;HRun=1;HaplotypeScore=7.7552;MQ=22.59;MQ0=22;MQRankSum=-0.951;QD=1.49;ReadPosRankSum=1.22;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:40,28:68:99:133,0,763
2 96601240 . G A 331.65 MQFilter40;QDFilter2 AB=0.51;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.804;DP=194;Dels=0.0;FS=5.309;HRun=0;HaplotypeScore=10.6267;MQ=21.81;MQ0=93;MQRankSum=0.242;QD=1.71;ReadPosRankSum=2.476;SNPEFF_AMINO_ACID_CHANGE=A566V;SNPEFF_CODON_CHANGE=gCa/gTa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_96601202_96601274;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:99,95:194:99:362,0,1567
2 96601296 . A ATGATTAAT 931.48 PASS AB=0.848;AC=1;AF=0.50;AN=2;BaseQRankSum=7.32;DP=116;FS=0.876;HRun=0;HaplotypeScore=918.5205;IndelType=I;MQ=31.86;MQ0=19;MQRankSum=2.291;QD=6.42;ReadPosRankSum=-5.822;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:119,16:116:99:971,0,6381
2 96601312 . G A 351.66 MQFilter40 AB=0.781;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.427;DP=137;Dels=0.0;FS=15.159;HRun=0;HaplotypeScore=0.0;MQ=30.51;MQ0=9;MQRankSum=-1.338;QD=2.57;ReadPosRankSum=-5.038;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:107,30:137:99:382,0,2537
2 96601345 rs149389865 T C 656.53 MQFilter40 AB=0.605;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.712;DB;DP=177;Dels=0.0;FS=2.855;HRun=0;HaplotypeScore=1.9157;MQ=24.91;MQ0=46;MQRankSum=-0.444;QD=3.69;ReadPosRankSum=4.971;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:101,66:177:99:687,0,1867
2 96601364 rs148485539 C T 728.60 MQFilter40 AB=0.495;AC=1;AF=0.50;AN=2;BaseQRankSum=1.502;DB;DP=186;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=21.49;MQ0=66;MQRankSum=1.079;QD=3.92;ReadPosRankSum=3.274;SNPEFF_AMINO_ACID_CHANGE=T554;SNPEFF_CODON_CHANGE=acG/acA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_96601364_96601392;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:92,94:186:99:759,0,1314
2 96604390 rs151015608 C T 134.67 MQFilter40 AB=0.083;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.348;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=34.66;MQ0=2;MQRankSum=-1.741;QD=11.22;ReadPosRankSum=-0.696;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:1,11:12:17.75:165,0,18
2 96604391 rs145784647 A G 134.67 MQFilter40 AB=0.071;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.348;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=32.09;MQ0=4;MQRankSum=-1.741;QD=9.62;ReadPosRankSum=-0.348;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:1,13:14:17.22:165,0,17
2 96604420 rs74931694 A T 379.69 MQFilter40 AB=0.161;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.783;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9982;MQ=36.02;MQ0=8;MQRankSum=-1.975;QD=12.25;ReadPosRankSum=1.379;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:5,26:31:99:410,0,133
2 96604452 . C A 37.47 MQFilter40;QDFilter2 AB=0.868;AC=1;AF=0.50;AN=2;BaseQRankSum=2.708;DP=53;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9916;MQ=36.12;MQ0=13;MQRankSum=-1.193;QD=0.71;ReadPosRankSum=-0.398;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:46,7:53:67.46:67,0,1066
2 96604516 rs62154560 C T 3743.24 PASS AB=0.205;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.636;DB;DP=189;Dels=0.0;FS=4.697;HRun=0;HaplotypeScore=12.9765;MQ=43.51;MQ0=8;MQRankSum=-5.24;QD=19.81;ReadPosRankSum=0.771;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:36,140:189:99:3743,0,985
2 96604576 . C T 75.31 QDFilter2 AB=0.912;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.375;DP=250;DS;Dels=0.0;FS=5.814;HRun=0;HaplotypeScore=1.8332;MQ=41.88;MQ0=13;MQRankSum=-3.219;QD=0.3;ReadPosRankSum=0.015;SNPEFF_EFFECT=SPLICE_SITE_DONOR;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:227,22:250:99:105,0,6560
2 96604591 rs62154561 A G 4996.90 PASS AB=0.181;AC=1;AF=0.50;AN=2;BaseQRankSum=0.668;DB;DP=250;DS;Dels=0.0;FS=2.335;HRun=1;HaplotypeScore=1.865;MQ=40.43;MQ0=19;MQRankSum=-6.006;QD=19.99;ReadPosRankSum=-0.017;SNPEFF_AMINO_ACID_CHANGE=L540P;SNPEFF_CODON_CHANGE=cTa/cCa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_96604577_96604649;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:45,204:250:99:4997,0,992
2 96604632 rs62154562 A T 3185.91 FSFilter60;MQFilter40 AB=0.243;AC=1;AF=0.50;AN=2;BaseQRankSum=2.68;DB;DP=211;DS;Dels=0.0;FS=67.376;HRun=0;HaplotypeScore=0.9578;MQ=34.81;MQ0=31;MQRankSum=-4.929;QD=15.1;ReadPosRankSum=1.433;SNPEFF_AMINO_ACID_CHANGE=S526R;SNPEFF_CODON_CHANGE=agT/agA;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_96604577_96604649;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:51,159:211:99:3216,0,1262
2 96604679 rs62154563 C T 2221.35 FSFilter60;HaplotypeScoreFilter13;MQFilter40 AB=0.344;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.14;DB;DP=247;DS;Dels=0.0;FS=101.734;HRun=0;HaplotypeScore=29.7594;MQ=27.92;MQ0=71;MQRankSum=-2.932;QD=8.99;ReadPosRankSum=-1.446;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:75,143:247:99:2251,0,1522
2 96604730 rs113311459 T C 1179.08 MQFilter40 AB=0.404;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.828;DB;DP=229;DS;Dels=0.0;FS=10.363;HRun=0;HaplotypeScore=2.4383;MQ=20.73;MQ0=113;MQRankSum=-1.751;QD=5.15;ReadPosRankSum=1.202;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:92,136:229:99:1209,0,1245
2 96604767 . C A 256.76 HaplotypeScoreFilter13;MQFilter40;QDFilter2 AB=0.747;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.192;DP=194;DS;Dels=0.0;FS=1.787;HRun=3;HaplotypeScore=18.5975;MQ=15.94;MQ0=119;MQRankSum=-0.285;QD=1.32;ReadPosRankSum=-0.273;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:145,49:194:99:287,0,1133
2 96604771 . G A 514.62 HaplotypeScoreFilter13;MQFilter40 AB=0.476;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.409;DP=187;DS;Dels=0.0;FS=6.896;HRun=3;HaplotypeScore=17.631;MQ=16.1;MQ0=113;MQRankSum=-0.862;QD=2.75;ReadPosRankSum=-0.862;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:89,98:187:99:545,0,848
2 96604785 . T A 430.96 MQFilter40 AB=0.475;AC=1;AF=0.50;AN=2;BaseQRankSum=2.064;DP=179;Dels=0.0;FS=12.739;HRun=2;HaplotypeScore=0.0;MQ=15.28;MQ0=115;MQRankSum=0.061;QD=2.41;ReadPosRankSum=-1.482;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:85,94:179:99:461,0,736
2 96604799 . T G 279.92 MQFilter40;QDFilter2 AB=0.577;AC=1;AF=0.50;AN=2;BaseQRankSum=4.247;DP=149;Dels=0.0;FS=2.98;HRun=2;HaplotypeScore=0.5784;MQ=14.44;MQ0=101;MQRankSum=0.711;QD=1.88;ReadPosRankSum=-1.121;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:86,63:149:99:310,0,598
2 96604810 . C T 95.11 MQFilter40;QDFilter2 AB=0.78;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.575;DP=133;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=14.54;MQ0=88;MQRankSum=0.809;QD=0.72;ReadPosRankSum=0.894;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:103,29:133:99:125,0,693
2 96606829 rs190428367 C T 98.97 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.643;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9734;MQ=41.92;MQ0=0;MQRankSum=-3.817;QD=4.5;ReadPosRankSum=0.794;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:11,11:22:99:129,0,363
2 96606833 . TGTTTC T 327.53 PASS AB=0.719;AC=1;AF=0.50;AN=2;BaseQRankSum=3.377;DP=20;FS=0.0;HRun=0;HaplotypeScore=216.6348;IndelType=D;MQ=44.41;MQ0=0;MQRankSum=-3.464;QD=14.24;ReadPosRankSum=2.587;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:14,9:20:99:367,0,1176
2 96606839 . T TA 177.98 PASS AB=0.735;AC=1;AF=0.50;AN=2;BaseQRankSum=3.464;DP=22;FS=0.0;HRun=0;HaplotypeScore=189.4761;IndelType=I;MQ=44.23;MQ0=0;MQRankSum=-3.153;QD=7.12;ReadPosRankSum=2.608;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:16,9:22:99:217,0,551
2 96606944 rs78739183 C T 620.23 PASS AB=0.367;AC=1;AF=0.50;AN=2;BaseQRankSum=2.736;DB;DP=60;Dels=0.0;FS=6.477;HRun=2;HaplotypeScore=3.8755;MQ=41.6;MQ0=5;MQRankSum=-4.409;QD=10.34;ReadPosRankSum=-1.045;SNPEFF_AMINO_ACID_CHANGE=G499R;SNPEFF_CODON_CHANGE=Gga/Aga;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_96606908_96606947;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:22,38:60:99:650,0,389
2 96606985 rs79451673 T C 366.28 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=2.235;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=42.18;MQ0=3;MQRankSum=-3.328;QD=9.16;ReadPosRankSum=0.911;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:16,24:40:99:396,0,458
2 96606998 . C T 390.30 PASS AB=0.382;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.38;DP=34;Dels=0.0;FS=3.078;HRun=1;HaplotypeScore=0.8667;MQ=41.81;MQ0=3;MQRankSum=-2.982;QD=11.48;ReadPosRankSum=1.541;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:13,21:34:99:420,0,372
2 96607003 . G A 401.60 PASS AB=0.3;AC=1;AF=0.50;AN=2;BaseQRankSum=1.466;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=40.3;MQ0=3;MQRankSum=-3.266;QD=13.39;ReadPosRankSum=0.54;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:9,21:30:99:432,0,289
2 96607028 rs142163060 T C 320.42 MQFilter40 AB=0.238;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.509;DB;DP=21;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8321;MQ=39.38;MQ0=2;MQRankSum=-1.805;QD=15.26;ReadPosRankSum=0.417;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:5,16:21:99:350,0,119
2 96607048 rs72933842 G A 211.82 MQFilter40 AB=0.154;AC=1;AF=0.50;AN=2;BaseQRankSum=2.003;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.7446;MQ=27.36;MQ0=2;MQRankSum=-2.003;QD=16.29;ReadPosRankSum=0.354;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:2,11:13:28.78:242,0,29
2 96610329 . G C 532.29 PASS AB=0.61;AC=1;AF=0.50;AN=2;BaseQRankSum=2.021;DP=77;Dels=0.0;FS=1.798;HRun=0;HaplotypeScore=0.9997;MQ=45.78;MQ0=3;MQRankSum=-5.996;QD=6.91;ReadPosRankSum=-0.887;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:47,30:77:99:562,0,1496
2 96610395 . C CA 1704.61 PASS AB=0.709;AC=1;AF=0.50;AN=2;BaseQRankSum=9.928;DP=144;FS=32.825;HRun=3;HaplotypeScore=1116.5539;IndelType=I;MQ=47.95;MQ0=3;MQRankSum=-9.849;QD=11.29;ReadPosRankSum=2.616;SNPEFF_EFFECT=FRAME_SHIFT;SNPEFF_EXON_ID=exon_2_96610375_96610442;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:89,62:144:99:1744,0,2502
2 96610420 rs78473403 G T 973.45 PASS AB=0.617;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.811;DB;DP=150;Dels=0.0;FS=15.468;HRun=4;HaplotypeScore=2.4678;MQ=49.24;MQ0=3;MQRankSum=-9.847;QD=6.49;ReadPosRankSum=-2.215;SNPEFF_AMINO_ACID_CHANGE=D482E;SNPEFF_CODON_CHANGE=gaC/gaA;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_96610375_96610442;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:92,57:150:99:1003,0,2807
2 96610479 . A G 209.91 PASS AB=0.681;AC=1;AF=0.50;AN=2;BaseQRankSum=0.23;DP=94;Dels=0.0;FS=12.534;HRun=0;HaplotypeScore=0.0;MQ=50.12;MQ0=2;MQRankSum=-7.195;QD=2.21;ReadPosRankSum=-1.186;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:64,30:94:99:240,0,2125
2 96610495 rs144198449 G A 331.28 PASS AB=0.681;AC=1;AF=0.50;AN=2;BaseQRankSum=1.345;DB;DP=69;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.6961;MQ=49.36;MQ0=2;MQRankSum=-6.118;QD=4.73;ReadPosRankSum=0.524;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:47,22:69:99:361,0,1703
2 96610525 rs79583286 G A 398.08 PASS AB=0.611;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.128;DB;DP=54;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.9962;MQ=49.43;MQ0=2;MQRankSum=-5.967;QD=7.37;ReadPosRankSum=1.9;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:33,21:54:99:428,0,1178
2 96610540 . G C 372.84 SnpCluster AB=0.581;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.185;DP=43;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=4.9916;MQ=48.85;MQ0=0;MQRankSum=-5.551;QD=8.67;ReadPosRankSum=0.726;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:25,18:43:99:403,0,884
2 96610544 . G T 295.29 SnpCluster AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.759;DP=40;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=4.9916;MQ=49.44;MQ0=0;MQRankSum=-5.315;QD=7.38;ReadPosRankSum=1.118;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:24,16:40:99:325,0,870
2 96610546 . G T 211.71 SnpCluster AB=0.657;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.442;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.9933;MQ=49.14;MQ0=0;MQRankSum=-4.813;QD=5.43;ReadPosRankSum=0.747;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:23,12:39:99:242,0,825
2 96610552 rs11897663 G C 340.86 SnpCluster AB=0.559;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.862;DB;DP=34;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=3.8271;MQ=46.26;MQ0=0;MQRankSum=-4.393;QD=10.03;ReadPosRankSum=-0.416;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:19,15:34:99:371,0,618
2 96610567 . T TAC 384.18 PASS AB=0.758;AC=1;AF=0.50;AN=2;BaseQRankSum=3.995;DP=24;FS=2.917;HRun=0;HaplotypeScore=306.6483;IndelType=I;MQ=45.25;MQ0=1;MQRankSum=-2.445;QD=15.37;ReadPosRankSum=-0.119;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:17,8:24:99:423,0,577
2 96610611 . C T 70.65 MQFilter40 AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=1.239;DP=15;Dels=0.0;FS=2.616;HRun=1;HaplotypeScore=1.7552;MQ=39.38;MQ0=3;MQRankSum=-0.6;QD=4.71;ReadPosRankSum=-0.825;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:8,7:15:99:101,0,224
2 96610678 . G A 264.21 MQFilter40 AB=0.063;AC=1;AF=0.50;AN=2;BaseQRankSum=1.107;DP=16;Dels=0.0;FS=10.414;HRun=0;HaplotypeScore=0.9983;MQ=26.49;MQ0=5;MQRankSum=-1.739;QD=16.51;ReadPosRankSum=0.474;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:1,15:16:5.49:294,0,5
2 96610731 . C G 233.89 MQFilter40 AB=0.242;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.149;DP=33;Dels=0.0;FS=7.858;HRun=0;HaplotypeScore=2.7339;MQ=34.48;MQ0=3;MQRankSum=-4.15;QD=7.09;ReadPosRankSum=-0.211;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:8,25:33:99:264,0,275
2 96610759 . T A 707.31 MQFilter40 AB=0.263;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.448;DP=57;Dels=0.0;FS=8.926;HRun=0;HaplotypeScore=0.0;MQ=36.57;MQ0=2;MQRankSum=-5.658;QD=12.41;ReadPosRankSum=-0.985;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:15,42:57:99:737,0,493
2 96610768 . T G 930.81 MQFilter40 AB=0.26;AC=1;AF=0.50;AN=2;BaseQRankSum=0.24;DP=73;Dels=0.0;FS=4.694;HRun=0;HaplotypeScore=1.7465;MQ=37.06;MQ0=2;MQRankSum=-6.423;QD=12.75;ReadPosRankSum=-1.059;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:19,54:73:99:961,0,597
2 96610787 rs112708872 C CA 2632.48 PASS AB=0.633;AC=1;AF=0.50;AN=2;BaseQRankSum=7.951;DB;DP=115;FS=0.0;HRun=6;HaplotypeScore=1468.2261;IndelType=I;MQ=36.13;MQ0=6;MQRankSum=-7.951;QD=19.79;ReadPosRankSum=-1.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:56,77:115:99:2672,0,560
2 96610805 . AAGAAAG A 6144.51 PASS AB=0.777;AC=1;AF=0.50;AN=2;BaseQRankSum=7.188;DP=170;FS=0.0;HRun=0;HaplotypeScore=2140.5664;IndelType=D;MQ=39.42;MQ0=7;MQRankSum=-6.954;QD=33.21;ReadPosRankSum=0.328;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:132,53:170:99:6145,0,3939
2 96610806 . AGAAAG A 5330.79 PASS AB=0.848;AC=1;AF=0.50;AN=2;BaseQRankSum=7.67;DP=172;FS=0.0;HRun=0;HaplotypeScore=2158.5051;IndelType=D;MQ=39.98;MQ0=7;MQRankSum=-7.777;QD=28.97;ReadPosRankSum=-0.397;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:151,29:172:99:5331,0,3524
2 96610810 . AG A 2047.09 PASS AB=0.906;AC=1;AF=0.50;AN=2;BaseQRankSum=10.408;DP=189;FS=0.0;HRun=1;HaplotypeScore=2294.1036;IndelType=D;MQ=40.77;MQ0=7;MQRankSum=-7.41;QD=10.13;ReadPosRankSum=-1.152;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:181,21:189:99:2086,0,1423
2 96610836 rs11893977 T C 3437.65 PASS AB=0.239;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.295;DB;DP=249;DS;Dels=0.0;FS=2.318;HRun=0;HaplotypeScore=11.7421;MQ=43.73;MQ0=9;MQRankSum=-6.233;QD=13.75;ReadPosRankSum=-2.411;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:58,185:249:99:3438,0,1652
2 96610899 rs62154593 T C 4660.09 PASS AB=0.238;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.53;DB;DP=248;DS;Dels=0.0;FS=7.723;HRun=0;HaplotypeScore=2.9925;MQ=49.35;MQ0=5;MQRankSum=-3.477;QD=18.79;ReadPosRankSum=-1.176;SNPEFF_AMINO_ACID_CHANGE=T462;SNPEFF_CODON_CHANGE=acA/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_96610862_96610922;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:59,189:248:99:4660,0,1539
2 96610921 rs62154594 T G 5454.06 HaplotypeScoreFilter13 AB=0.213;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.312;DB;DP=244;DS;Dels=0.0;FS=5.551;HRun=0;HaplotypeScore=15.5606;MQ=48.71;MQ0=6;MQRankSum=-3.874;QD=22.35;ReadPosRankSum=-0.918;SNPEFF_AMINO_ACID_CHANGE=N455T;SNPEFF_CODON_CHANGE=aAt/aCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_96610862_96610922;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:52,192:244:99:5454,0,1370
2 96610952 rs62154595 T C 5771.95 HaplotypeScoreFilter13 AB=0.195;AC=1;AF=0.50;AN=2;BaseQRankSum=4.153;DB;DP=236;DS;Dels=0.0;FS=3.704;HRun=0;HaplotypeScore=49.0594;MQ=47.59;MQ0=6;MQRankSum=-3.982;QD=24.46;ReadPosRankSum=1.151;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:46,190:236:99:5772,0,1146
2 96610958 rs79852024 G T 2231.68 HaplotypeScoreFilter13 AB=0.614;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.874;DB;DP=228;DS;Dels=0.0;FS=4.791;HRun=1;HaplotypeScore=45.1037;MQ=47.36;MQ0=8;MQRankSum=-0.921;QD=9.79;ReadPosRankSum=1.784;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:140,88:228:99:2262,0,4342
2 96611018 rs62154596 G A 2415.45 MQFilter40 AB=0.183;AC=1;AF=0.50;AN=2;BaseQRankSum=0.38;DB;DP=120;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=37.76;MQ0=5;MQRankSum=-2.108;QD=20.13;ReadPosRankSum=-0.636;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:22,98:120:99:2445,0,543
2 96611078 rs62154597 T G 804.67 HaplotypeScoreFilter13;MQFilter40 AB=0.133;AC=1;AF=0.50;AN=2;BaseQRankSum=2.479;DB;DP=45;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=13.4965;MQ=29.09;MQ0=1;MQRankSum=-1.453;QD=17.88;ReadPosRankSum=0.427;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:6,39:45:99:835,0,109
2 96611088 rs62154598 G A 665.91 MQFilter40 AB=0.184;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.756;DB;DP=38;Dels=0.0;FS=7.634;HRun=0;HaplotypeScore=9.3717;MQ=30.88;MQ0=1;MQRankSum=-0.252;QD=17.52;ReadPosRankSum=-1.997;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:7,31:38:99:696,0,117
2 96611146 rs149738552 A G 241.94 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.193;DB;DP=14;Dels=0.0;FS=4.15;HRun=1;HaplotypeScore=0.9998;MQ=47.12;MQ0=0;MQRankSum=1.468;QD=17.28;ReadPosRankSum=-0.225;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:6,8:14:99:272,0,131
2 96614092 rs4243789 C A 62.61 MQFilter40 AC=2;AF=1.00;AN=2;BaseQRankSum=-0.727;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=25.28;MQ0=1;MQRankSum=0.727;QD=12.52;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 1/1:2,3:5:9.02:95,9,0
2 96614212 rs4907288 A G 667.79 PASS AB=0.474;AC=1;AF=0.50;AN=2;BaseQRankSum=2.575;DB;DP=38;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=54.71;MQ0=0;MQRankSum=1.295;QD=17.57;ReadPosRankSum=-0.625;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:18,20:38:99:698,0,442
2 96614383 rs74839781 A G 74.85 QDFilter2 AB=0.85;AC=1;AF=0.50;AN=2;BaseQRankSum=2.044;DB;DP=40;Dels=0.0;FS=2.44;HRun=0;HaplotypeScore=0.0;MQ=55.95;MQ0=0;MQRankSum=-3.834;QD=1.87;ReadPosRankSum=-2.978;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:34,6:40:99:105,0,1049
2 96614407 rs77346146 G A 74.86 PASS AB=0.778;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.199;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.75;MQ0=0;MQRankSum=-4.281;QD=2.02;ReadPosRankSum=0.361;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:28,8:37:99:105,0,1039
2 96614424 rs148880632 G T 98.93 PASS AB=0.69;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.872;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=51.9;MQ0=0;MQRankSum=-4.266;QD=3.41;ReadPosRankSum=1.626;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:20,9:29:99:129,0,744
2 96614434 . A AC 217.88 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=3.757;DP=26;FS=0.0;HRun=2;HaplotypeScore=172.9474;IndelType=I;MQ=49.17;MQ0=0;MQRankSum=-3.468;QD=7.26;ReadPosRankSum=1.908;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:18,12:26:99:257,0,682
2 96614520 rs112706144 A G 51.45 MQFilter40 AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=34.99;MQ0=0;MQRankSum=-1.38;QD=8.58;ReadPosRankSum=-0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:2,4:6:64.92:81,0,65
2 96616442 rs74960926 C A 160.17 MQFilter40 AB=0.535;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.067;DB;DP=71;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9048;MQ=38.76;MQ0=0;MQRankSum=-6.842;QD=2.26;ReadPosRankSum=3.349;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:38,33:71:99:190,0,1362
2 96616448 rs76503749 G T 148.19 MQFilter40;QDFilter2 AB=0.57;AC=1;AF=0.50;AN=2;BaseQRankSum=5.477;DB;DP=79;Dels=0.0;FS=2.36;HRun=0;HaplotypeScore=0.9469;MQ=39.55;MQ0=0;MQRankSum=-6.928;QD=1.88;ReadPosRankSum=3.109;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:45,34:79:99:178,0,1348
2 96616485 rs78218362 C G 208.17 MQFilter40 AB=0.631;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.324;DB;DP=103;Dels=0.0;FS=5.078;HRun=0;HaplotypeScore=2.761;MQ=32.04;MQ0=15;MQRankSum=-5.314;QD=2.02;ReadPosRankSum=-3.747;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:65,38:103:99:238,0,1466
2 96616758 rs79038786 T C 74.51 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=44.01;MQ0=0;QD=24.84;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:107,9,0
2 96616839 rs76266192 G T 36.43 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=30.81;MQ0=0;QD=18.22;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:68,6,0
2 96616997 rs74701498 T G 42.91 PASS AB=0.733;AC=1;AF=0.50;AN=2;BaseQRankSum=1.893;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.5784;MQ=50.33;MQ0=0;MQRankSum=-2.546;QD=2.86;ReadPosRankSum=0.718;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:11,4:15:72.91:73,0,374
2 96617023 rs78346055 C A 104.74 PASS AB=0.741;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.996;DB;DP=27;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=3.3334;MQ=46.76;MQ0=2;MQRankSum=-2.935;QD=3.88;ReadPosRankSum=1.422;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:20,7:27:99:135,0,581
2 96617025 rs72492186 C A 105.30 PASS AB=0.692;AC=1;AF=0.50;AN=2;BaseQRankSum=0.167;DB;DP=26;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=3.3334;MQ=46.18;MQ0=2;MQRankSum=-2.906;QD=4.05;ReadPosRankSum=1.236;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:18,8:26:99:135,0,534
2 96617039 . A AC 83.48 PASS AB=0.886;AC=1;AF=0.50;AN=2;BaseQRankSum=3.005;DP=35;FS=0.0;HRun=0;HaplotypeScore=392.5419;IndelType=I;MQ=47.39;MQ0=3;MQRankSum=-3.359;QD=2.14;ReadPosRankSum=3.28;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:34,5:35:99:123,0,888
2 96617069 rs72935831 A G 160.19 PASS AB=0.81;AC=1;AF=0.50;AN=2;BaseQRankSum=1.0;DB;DP=58;Dels=0.0;FS=5.196;HRun=0;HaplotypeScore=0.0;MQ=48.29;MQ0=6;MQRankSum=-4.695;QD=2.76;ReadPosRankSum=-0.576;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:47,11:58:99:190,0,935
2 96617090 rs72935833 A G 46.34 QDFilter2 AB=0.857;AC=1;AF=0.50;AN=2;BaseQRankSum=0.142;DB;DP=63;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=50.46;MQ0=6;MQRankSum=-4.48;QD=0.74;ReadPosRankSum=-1.278;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:54,9:63:76.33:76,0,1340
2 96617194 rs75924615 A G 38.18 QDFilter2 AB=0.846;AC=1;AF=0.50;AN=2;BaseQRankSum=1.729;DB;DP=53;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.734;MQ=47.05;MQ0=5;MQRankSum=-3.804;QD=0.72;ReadPosRankSum=1.591;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:44,8:53:68.17:68,0,1366
2 96617209 rs74343816 G T 57.47 QDFilter2 AB=0.827;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.464;DB;DP=52;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.445;MQ=46.04;MQ0=6;MQRankSum=-4.264;QD=1.11;ReadPosRankSum=0.886;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:43,9:52:87.47:87,0,1368
2 96617231 rs2443879 G A 67.61 PASS AB=0.606;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.06;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.9724;MQ=45.64;MQ0=5;MQRankSum=-3.636;QD=2.05;ReadPosRankSum=-1.093;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:20,13:33:97.61:98,0,728
2 96619559 . T A 163.33 MQFilter40 AB=0.235;AC=1;AF=0.50;AN=2;BaseQRankSum=0.077;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=30.98;MQ0=4;MQRankSum=-2.855;QD=9.61;ReadPosRankSum=-1.003;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:4,13:17:99:193,0,127
2 96619612 rs143611798 C T 386.93 MQFilter40 AB=0.27;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.592;DB;DP=37;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=34.99;MQ0=8;MQRankSum=-4.382;QD=10.46;ReadPosRankSum=1.445;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:10,27:37:99:417,0,341
2 96619641 . A C 31.47 MQFilter40;QDFilter2 AB=0.255;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.299;DP=47;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.81;MQ=34.74;MQ0=11;MQRankSum=-4.849;QD=0.67;ReadPosRankSum=-0.889;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:12,35:47:61.46:61,0,457
2 96619642 . A T 31.47 MQFilter40;QDFilter2 AB=0.255;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.319;DP=47;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.81;MQ=34.74;MQ0=11;MQRankSum=-4.849;QD=0.67;ReadPosRankSum=-0.99;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:12,35:47:61.46:61,0,458
2 96619688 rs74946480 T G 1211.36 MQFilter40 AB=0.28;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.261;DB;DP=107;Dels=0.0;FS=6.319;HRun=0;HaplotypeScore=4.8587;MQ=38.65;MQ0=12;MQRankSum=-5.784;QD=11.22;ReadPosRankSum=1.004;SNPEFF_AMINO_ACID_CHANGE=E401A;SNPEFF_CODON_CHANGE=gAg/gCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_96619687_96619753;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:30,77:107:99:1241,0,844
2 96619734 rs62154618 C T 1287.48 HaplotypeScoreFilter13 AB=0.293;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.065;DB;DP=124;Dels=0.01;FS=2.816;HRun=0;HaplotypeScore=33.3292;MQ=40.39;MQ0=5;MQRankSum=-6.087;QD=10.3;ReadPosRankSum=-0.774;SNPEFF_AMINO_ACID_CHANGE=A386T;SNPEFF_CODON_CHANGE=Gct/Act;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_96619687_96619753;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:36,87:124:99:1317,0,939
2 96619735 . A G 625.03 HaplotypeScoreFilter13 AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=0.585;DP=128;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=33.3292;MQ=40.68;MQ0=5;MQRankSum=-2.645;QD=4.88;ReadPosRankSum=-0.347;SNPEFF_AMINO_ACID_CHANGE=D385;SNPEFF_CODON_CHANGE=gaT/gaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_96619687_96619753;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:72,56:128:99:655,0,1583
2 96619774 rs77522461 G A 734.28 PASS AB=0.377;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.048;DB;DP=69;Dels=0.0;FS=3.37;HRun=1;HaplotypeScore=1.8319;MQ=43.9;MQ0=1;MQRankSum=-5.054;QD=10.64;ReadPosRankSum=1.634;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:26,43:69:99:764,0,847
2 96619799 rs145806545 A C 680.35 PASS AB=0.339;AC=1;AF=0.50;AN=2;BaseQRankSum=0.216;DB;DP=59;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=5.8688;MQ=43.09;MQ0=0;MQRankSum=-4.652;QD=11.53;ReadPosRankSum=0.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:20,39:59:99:710,0,670
2 96619832 rs79037822 A G 174.17 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=1.075;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=9.5873;MQ=44.35;MQ0=1;MQRankSum=-4.116;QD=4.98;ReadPosRankSum=-1.115;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:12,20:35:99:204,0,416
2 96619853 . T C 114.30 PASS AB=0.565;AC=1;AF=0.50;AN=2;BaseQRankSum=0.758;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.7895;MQ=44.06;MQ0=1;MQRankSum=-3.0;QD=4.97;ReadPosRankSum=0.692;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:13,10:23:99:144,0,389
2 96619873 rs111807008 C A 195.11 PASS AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=0.883;DB;DP=19;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.8321;MQ=43.95;MQ0=1;MQRankSum=-1.766;QD=10.27;ReadPosRankSum=-0.883;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:10,9:19:99:225,0,263
2 96622347 rs142454455 C T 38.55 MQFilter40 AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.248;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9142;MQ=31.37;MQ0=0;MQRankSum=0.573;QD=4.28;ReadPosRankSum=-0.573;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:6,3:9:68.54:69,0,119
2 96626030 rs7566050 T C 77.99 MQFilter40 AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=37.0;MQ0=0;MQRankSum=0.727;QD=19.5;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:1,3:4:24.94:108,0,25
2 96626292 rs4362598 C T 767.53 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=28.41;MQ0=1;QD=30.7;SNPEFF_AMINO_ACID_CHANGE=G311D;SNPEFF_CODON_CHANGE=gGt/gAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_96626221_96626293;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 1/1:0,25:25:72.20:801,72,0
2 96627942 rs78301520 T C 83.70 MQFilter40 AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=1.898;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=37.31;MQ0=2;MQRankSum=-3.308;QD=4.65;ReadPosRankSum=2.007;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:6,12:18:99:114,0,194
2 96627949 rs116292556 G A 88.59 MQFilter40 AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=2.549;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=37.31;MQ0=2;MQRankSum=-3.308;QD=4.92;ReadPosRankSum=2.007;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:6,12:18:99:119,0,153
2 96627959 rs117426905 A G 79.56 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.555;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=40.16;MQ0=2;MQRankSum=-3.599;QD=3.98;ReadPosRankSum=2.532;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:8,12:20:99:110,0,291
2 96627980 rs75281835 A G 67.52 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.758;DB;DP=24;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=44.09;MQ0=2;MQRankSum=-3.989;QD=2.81;ReadPosRankSum=0.956;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:12,12:24:97.51:98,0,440
2 96628443 rs79028115 C T 123.13 MQFilter40 AB=0.686;AC=1;AF=0.50;AN=2;BaseQRankSum=0.396;DB;DP=51;Dels=0.0;FS=3.938;HRun=0;HaplotypeScore=0.8941;MQ=35.91;MQ0=0;MQRankSum=-5.045;QD=2.41;ReadPosRankSum=2.812;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:35,16:51:99:153,0,1036
2 96628454 rs80053599 T C 138.16 MQFilter40 AB=0.644;AC=1;AF=0.50;AN=2;BaseQRankSum=1.529;DB;DP=45;Dels=0.0;FS=3.537;HRun=0;HaplotypeScore=0.5784;MQ=37.34;MQ0=0;MQRankSum=-4.944;QD=3.07;ReadPosRankSum=3.877;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:29,16:45:99:168,0,881
2 96628490 rs76756953 A T 47.27 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.077;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=40.39;MQ0=0;MQRankSum=-3.923;QD=2.15;ReadPosRankSum=-2.275;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:10,12:22:77.26:77,0,357
2 96647856 rs4144055 G T 236.39 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.296;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.71;MQ0=0;MQRankSum=-0.53;QD=13.13;ReadPosRankSum=-0.353;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:9,9:18:99:266,0,312
2 96657575 rs62155511 A G 35.86 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9979;MQ=55.21;MQ0=0;MQRankSum=-0.358;QD=7.17;ReadPosRankSum=0.358;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC073995.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456556 GT:AD:DP:GQ:PL 0/1:3,2:5:59.35:66,0,59
2 96679384 rs2579517 C T 116.18 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=0.135;DB;DP=13;Dels=0.0;FS=3.802;HRun=2;HaplotypeScore=0.9997;MQ=60.0;MQ0=0;MQRankSum=0.135;QD=8.94;ReadPosRankSum=-1.0;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC013272.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427863 GT:AD:DP:GQ:PL 0/1:7,5:13:99:146,0,245
2 96679740 rs2438978 G C 88.86 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.421;DB;DP=8;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.421;QD=11.11;ReadPosRankSum=-0.922;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC013272.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427863 GT:AD:DP:GQ:PL 0/1:4,4:8:99:119,0,137
2 96684876 rs2579516 A G 273.81 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.11;MQ0=0;QD=27.38;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=GPAT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359548 GT:AD:DP:GQ:PL 1/1:0,10:10:24.07:307,24,0
2 96685021 rs2969475 A G 226.44 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.184;DB;DP=15;Dels=0.0;FS=2.963;HRun=2;HaplotypeScore=1.6609;MQ=48.25;MQ0=0;MQRankSum=-1.776;QD=15.1;ReadPosRankSum=0.061;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=GPAT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359548 GT:AD:DP:GQ:PL 0/1:5,10:15:99:256,0,167
2 96780716 rs2229169 T G 380.80 PASS AB=0.595;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.295;DB;DP=42;Dels=0.0;FS=7.521;HRun=0;HaplotypeScore=1.4972;MQ=59.45;MQ0=0;MQRankSum=1.601;QD=9.07;ReadPosRankSum=-0.066;SNPEFF_AMINO_ACID_CHANGE=G391;SNPEFF_CODON_CHANGE=ggA/ggC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_96778707_96781984;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADRA2B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000409345 GT:AD:DP:GQ:PL 0/1:25,17:42:99:411,0,721
2 96789787 rs893173 T C 802.29 PASS AB=0.49;AC=1;AF=0.50;AN=2;BaseQRankSum=1.01;DB;DP=49;Dels=0.0;FS=1.126;HRun=1;HaplotypeScore=1.367;MQ=59.05;MQ0=0;MQRankSum=0.79;QD=16.37;ReadPosRankSum=-0.85;SNPEFF_AMINO_ACID_CHANGE=L366;SNPEFF_CODON_CHANGE=ctA/ctG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_96789589_96790010;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASTL;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000342380 GT:AD:DP:GQ:PL 0/1:24,25:49:99:832,0,745
2 96795608 rs1657502 T G 389.44 PASS AB=0.486;AC=1;AF=0.50;AN=2;BaseQRankSum=1.998;DB;DP=35;Dels=0.0;FS=3.329;HRun=1;HaplotypeScore=0.5784;MQ=58.67;MQ0=0;MQRankSum=-1.033;QD=11.13;ReadPosRankSum=-0.31;SNPEFF_AMINO_ACID_CHANGE=K277Q;SNPEFF_CODON_CHANGE=Aaa/Caa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_96795563_96795717;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASTL;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000342380 GT:AD:DP:GQ:PL 0/1:17,18:35:99:419,0,513
2 96795714 rs749459 G A 270.28 PASS AB=0.591;AC=1;AF=0.50;AN=2;BaseQRankSum=1.135;DB;DP=22;Dels=0.0;FS=1.719;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.868;QD=12.29;ReadPosRankSum=0.601;SNPEFF_AMINO_ACID_CHANGE=L241;SNPEFF_CODON_CHANGE=ctC/ctT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_96795563_96795717;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASTL;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000342380 GT:AD:DP:GQ:PL 0/1:13,9:22:99:300,0,388
2 96795857 rs749458 T C 625.21 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.91;DB;DP=50;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9967;MQ=60.0;MQ0=0;MQRankSum=-1.106;QD=12.5;ReadPosRankSum=0.66;SNPEFF_AMINO_ACID_CHANGE=Q222R;SNPEFF_CODON_CHANGE=cAg/cGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_96795803_96795884;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASTL;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000342380 GT:AD:DP:GQ:PL 0/1:25,25:50:99:655,0,793
2 96795944 rs749457 A G 255.73 PASS AB=0.609;AC=1;AF=0.50;AN=2;BaseQRankSum=0.724;DB;DP=23;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.039;QD=11.12;ReadPosRankSum=1.102;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASTL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470582 GT:AD:DP:GQ:PL 0/1:14,9:23:99:286,0,497
2 96798510 rs1168966 G A 380.91 PASS AB=0.316;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.219;DB;DP=20;Dels=0.0;FS=2.865;HRun=0;HaplotypeScore=0.0;MQ=58.6;MQ0=0;MQRankSum=0.833;QD=19.05;ReadPosRankSum=-0.307;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASTL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470582 GT:AD:DP:GQ:PL 0/1:6,13:20:99:411,0,200
2 96944553 rs772175 G A 563.10 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=2.25;DB;DP=35;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=1.45;QD=16.09;ReadPosRankSum=-0.783;SNPEFF_AMINO_ACID_CHANGE=L1773;SNPEFF_CODON_CHANGE=Ctg/Ttg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_96944547_96944736;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SNRNP200;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000323853 GT:AD:DP:GQ:PL 0/1:15,20:35:99:593,0,464
2 96956315 rs55924829 T G 3996.30 PASS AC=2;AF=1.00;AN=2;DB;DP=111;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.8321;MQ=59.79;MQ0=0;QD=36.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SNRNP200;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000323853 GT:AD:DP:GQ:PL 1/1:0,111:111:99:3996,304,0
2 96991492 rs772174 A G 281.96 PASS AB=0.645;AC=1;AF=0.50;AN=2;BaseQRankSum=0.392;DB;DP=31;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9983;MQ=59.4;MQ0=0;MQRankSum=-0.392;QD=9.1;ReadPosRankSum=-0.351;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITPRIPL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420176 GT:AD:DP:GQ:PL 0/1:20,11:31:99:312,0,711
2 97166204 rs3731938 A G 118.42 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.001;DB;DP=14;Dels=0.0;FS=2.027;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.065;QD=8.46;ReadPosRankSum=2.001;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NEURL3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310865 GT:AD:DP:GQ:PL 0/1:8,6:14:99:148,0,219
2 97284917 rs12329128 G A 44.20 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA1310;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354204 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:75,6,0
2 97366303 rs2280355 A G 270.88 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FER1L5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397978 GT:AD:DP:GQ:PL 1/1:0,9:9:24.08:304,24,0
2 97400324 rs6727384 A G 211.15 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=1.588;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.318;QD=13.2;ReadPosRankSum=0.847;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LMAN2L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264963 GT:AD:DP:GQ:PL 0/1:9,7:16:99:241,0,298
2 97463095 rs1318597 T C 209.30 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=1.791;DB;DP=13;Dels=0.0;FS=7.16;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.312;QD=16.1;ReadPosRankSum=-0.312;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNNM4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000377075 GT:AD:DP:GQ:PL 0/1:6,7:13:99:239,0,203
2 97463529 rs7582249 G A 42.22 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=14.07;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNNM4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000482716 GT:AD:DP:GQ:PL 0/1:1,2:3:32.73:72,0,33
2 97529360 rs59271006 T A 643.96 PASS AB=0.382;AC=1;AF=0.50;AN=2;BaseQRankSum=1.727;DB;DP=34;Dels=0.0;FS=2.582;HRun=1;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=-0.422;QD=18.94;ReadPosRankSum=-0.767;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SEMA4C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000442264 GT:AD:DP:GQ:PL 0/1:13,21:34:99:674,0,367
2 97543936 rs12473528 T C 35.68 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.84;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM178B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327896 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:67,6,0
2 97544089 rs6750988 G C 69.10 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.358;QD=13.82;ReadPosRankSum=1.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM178B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327896 GT:AD:DP:GQ:PL 0/1:2,3:5:48.93:99,0,49
2 97559759 rs11677797 G A 187.07 PASS AB=0.412;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.439;DB;DP=17;Dels=0.0;FS=1.913;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.342;QD=11.0;ReadPosRankSum=0.049;SNPEFF_AMINO_ACID_CHANGE=L528;SNPEFF_CODON_CHANGE=ctC/ctT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_97559663_97559788;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM178B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000327896 GT:AD:DP:GQ:PL 0/1:7,10:17:99:217,0,212
2 97595109 rs6725927 T C 560.98 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.05;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM178B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327896 GT:AD:DP:GQ:PL 1/1:0,20:20:48.14:594,48,0
2 97613616 rs1624844 T C 192.68 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.09;SNPEFF_AMINO_ACID_CHANGE=T307;SNPEFF_CODON_CHANGE=acA/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_97613555_97613639;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM178B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000327896 GT:AD:DP:GQ:PL 1/1:0,8:8:18.04:226,18,0
2 97617140 rs1257019 T C 34.68 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.34;SNPEFF_AMINO_ACID_CHANGE=V291;SNPEFF_CODON_CHANGE=gtA/gtG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_97617116_97617221;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM178B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000327896 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:66,6,0
2 97617227 rs1257018 A G 43.46 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.73;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM178B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327896 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:75,6,0
2 97637905 rs6715329 T C 98.01 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.21;MQ0=0;QD=19.6;SNPEFF_AMINO_ACID_CHANGE=I247M;SNPEFF_CODON_CHANGE=atA/atG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_97637638_97638059;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM178B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000417561 GT:AD:DP:GQ:PL 1/1:0,5:5:12.01:131,12,0
2 97643576 rs1796048 T C 1588.08 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.8069;MQ=59.52;MQ0=0;QD=33.09;SNPEFF_AMINO_ACID_CHANGE=Q165;SNPEFF_CODON_CHANGE=caA/caG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_97643554_97643669;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM178B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000417561 GT:AD:DP:GQ:PL 1/1:0,48:48:99:1621,120,0
2 97693966 rs1669771 A G 2869.32 PASS AC=2;AF=1.00;AN=2;DB;DP=97;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.97;MQ0=0;QD=29.58;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC018892.4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000422468 GT:AD:DP:GQ:PL 1/1:0,97:97:99:2902,244,0
2 97695225 rs1256988 A C 1359.42 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=90;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=21.35;MQ0=38;QD=15.1;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC018892.4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000422468 GT:AD:DP:GQ:PL 1/1:0,90:90:99:1392,126,0
2 97711764 rs1148593 A G 346.04 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=51.0;MQ0=0;QD=28.84;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC018892.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000450846 GT:AD:DP:GQ:PL 1/1:0,12:12:33.09:379,33,0
2 97712339 rs1257117 C A 3221.92 PASS AC=2;AF=1.00;AN=2;DB;DP=94;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.57;MQ0=0;QD=34.28;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC018892.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000450846 GT:AD:DP:GQ:PL 1/1:1,93:94:99:3255,244,0
2 97712540 rs1257116 A G 2096.46 PASS AC=2;AF=1.00;AN=2;DB;DP=75;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.581;MQ=44.97;MQ0=3;QD=27.95;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC018892.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000450846 GT:AD:DP:GQ:PL 1/1:0,74:75:99:2129,177,0
2 97712581 rs1257115 A C 1440.48 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=29.26;MQ0=3;QD=24.41;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC018892.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000450846 GT:AD:DP:GQ:PL 1/1:0,58:59:99:1473,132,0
2 97712730 rs1730116 G T 720.99 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=39.65;MQ0=4;QD=20.03;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC018892.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000450846 GT:AD:DP:GQ:PL 1/1:4,32:36:78.05:754,78,0
2 97712731 rs1669758 C T 724.32 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=39.65;MQ0=4;QD=20.12;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC018892.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000450846 GT:AD:DP:GQ:PL 1/1:4,32:36:78.05:757,78,0
2 97726087 rs1148586 T C 1719.94 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=75;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=30.39;MQ0=6;QD=22.93;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC018892.7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000377032 GT:AD:DP:GQ:PL 1/1:0,75:75:99:1753,156,0
2 97747894 rs1257095 T C 907.06 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=44.69;MQ0=0;QD=30.24;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FAHD2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272610 GT:AD:DP:GQ:PL 1/1:0,30:30:87.16:940,87,0
2 97747978 rs1257094 C T 400.95 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=29.65;MQ0=2;QD=22.28;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FAHD2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272610 GT:AD:DP:GQ:PL 1/1:0,18:18:39.09:434,39,0
2 97749417 rs140620633 C T 40.63 PASS AB=0.733;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.501;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=52.04;MQ0=0;MQRankSum=-1.371;QD=2.71;ReadPosRankSum=0.457;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FAHD2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463096 GT:AD:DP:GQ:PL 0/1:11,4:15:70.62:71,0,396
2 97757509 rs1257084 C T 1280.04 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.65;MQ0=0;QD=32.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FAHD2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272610 GT:AD:DP:GQ:PL 1/1:0,40:40:99:1313,105,0
2 97783657 rs144148080 T C 413.15 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=36.18;MQ0=1;QD=27.54;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 1/1:0,15:15:39.08:446,39,0
2 97784295 . C A 1504.71 MQFilter40 AC=2;AF=1.00;AN=2;DP=94;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=21.91;MQ0=41;QD=16.01;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 1/1:22,72:94:99:1538,135,0
2 97789020 rs11693818 T G 35.63 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=25.11;MQ0=1;QD=8.91;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000452478 GT:AD:DP:GQ:PL 1/1:0,4:4:6.02:67,6,0
2 97808198 rs56786098 G A 551.28 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=16.85;MQ0=17;QD=12.53;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 1/1:0,44:44:63.03:584,63,0
2 97808314 . G T 940.40 MQFilter40 AB=0.576;AC=1;AF=0.50;AN=2;BaseQRankSum=0.668;DP=250;DS;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=4.9899;MQ=26.58;MQ0=62;MQRankSum=-2.521;QD=3.76;ReadPosRankSum=1.429;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 0/1:144,106:250:99:970,0,2282
2 97808349 rs62153043 T C 468.63 HaplotypeScoreFilter13;MQFilter40;QDFilter2 AB=0.366;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.431;DB;DP=246;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=16.9112;MQ=27.48;MQ0=73;MQRankSum=-8.285;QD=1.9;ReadPosRankSum=0.338;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 0/1:90,156:246:99:499,0,2356
2 97808394 rs62153044 C G 1599.52 FSFilter60;MQFilter40 AB=0.368;AC=1;AF=0.50;AN=2;BaseQRankSum=3.429;DB;DP=250;DS;Dels=0.0;FS=107.307;HRun=0;HaplotypeScore=0.0;MQ=34.13;MQ0=52;MQRankSum=-9.612;QD=6.4;ReadPosRankSum=-4.103;SNPEFF_AMINO_ACID_CHANGE=P273A;SNPEFF_CODON_CHANGE=Cca/Gca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_97808377_97808405;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000420699 GT:AD:DP:GQ:PL 0/1:92,158:250:99:1630,0,2739
2 97808429 rs112299457 T G 32.46 HaplotypeScoreFilter13;MQFilter40;QDFilter2 AB=0.848;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.428;DB;DP=230;DS;Dels=0.0;FS=15.986;HRun=0;HaplotypeScore=14.7717;MQ=37.41;MQ0=28;MQRankSum=-3.714;QD=0.14;ReadPosRankSum=0.485;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 0/1:195,35:230:62.45:62,0,4814
2 97808495 rs62153045 C T 325.38 PASS AB=0.734;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.701;DB;DP=143;DS;Dels=0.0;FS=36.978;HRun=1;HaplotypeScore=4.0816;MQ=51.8;MQ0=3;MQRankSum=-8.766;QD=2.28;ReadPosRankSum=-3.632;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 0/1:105,38:143:99:355,0,3660
2 97812209 rs79613735 T A 33.64 QDFilter2 AB=0.786;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.547;DB;DP=56;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=50.64;MQ0=2;MQRankSum=-4.875;QD=0.6;ReadPosRankSum=-0.036;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 0/1:44,12:56:63.63:64,0,1398
2 97812263 rs192099359 T C 145.02 QDFilter2 AB=0.701;AC=1;AF=0.50;AN=2;BaseQRankSum=0.73;DB;DP=77;Dels=0.0;FS=1.316;HRun=0;HaplotypeScore=0.0;MQ=49.56;MQ0=7;MQRankSum=-5.516;QD=1.88;ReadPosRankSum=-1.786;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 0/1:54,23:77:99:175,0,1678
2 97812296 . T G 174.01 PASS AB=0.683;AC=1;AF=0.50;AN=2;BaseQRankSum=3.439;DP=63;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=49.35;MQ0=6;MQRankSum=-4.681;QD=2.76;ReadPosRankSum=3.013;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 0/1:43,20:63:99:204,0,1375
2 97812323 rs79598281 A G 207.70 PASS AB=0.564;AC=1;AF=0.50;AN=2;BaseQRankSum=0.883;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=47.15;MQ0=4;MQRankSum=-4.451;QD=5.33;ReadPosRankSum=1.027;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 0/1:22,17:39:99:238,0,798
2 97812327 rs75341630 A G 232.92 PASS AB=0.568;AC=1;AF=0.50;AN=2;BaseQRankSum=0.319;DB;DP=37;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=47.4;MQ0=3;MQRankSum=-4.217;QD=6.3;ReadPosRankSum=0.709;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 0/1:21,16:37:99:263,0,785
2 97814956 rs4386368 G A 566.80 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.38;MQ0=0;QD=37.79;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 1/1:0,15:15:45.13:600,45,0
2 97817511 rs62153867 T C 52.25 MQFilter40 AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=0.406;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=33.69;MQ0=2;MQRankSum=-0.406;QD=6.53;ReadPosRankSum=-1.537;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 0/1:5,3:8:82.25:82,0,98
2 97817545 rs80259985 A T 58.29 MQFilter40 AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.727;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=26.39;MQ0=5;MQRankSum=0.727;QD=5.83;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 0/1:7,3:10:21.40:88,0,21
2 97817578 rs113800206 T C 55.26 MQFilter40 AB=0.727;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=11;Dels=0.0;FS=3.979;HRun=2;HaplotypeScore=0.0;MQ=29.73;MQ0=6;MQRankSum=-1.231;QD=5.02;ReadPosRankSum=1.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 0/1:8,3:11:68.95:85,0,69
2 97818146 rs145799985 G A 54.57 MQFilter40 AB=0.741;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.139;DB;DP=27;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=36.05;MQ0=1;MQRankSum=-3.179;QD=2.02;ReadPosRankSum=1.041;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 0/1:20,7:27:84.56:85,0,585
2 97818161 rs74715701 C A 89.58 MQFilter40 AB=0.722;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.901;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=37.74;MQ0=0;MQRankSum=-4.256;QD=2.49;ReadPosRankSum=0.477;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 0/1:26,10:36:99:120,0,800
2 97818169 rs76008235 C T 65.51 QDFilter2 AB=0.773;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.571;DB;DP=44;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=40.22;MQ0=0;MQRankSum=-4.439;QD=1.49;ReadPosRankSum=0.938;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 0/1:34,10:44:95.51:96,0,1063
2 97818283 rs112336445 G C 34.13 MQFilter40;QDFilter2 AB=0.782;AC=1;AF=0.50;AN=2;BaseQRankSum=0.021;DB;DP=87;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=34.22;MQ0=10;MQRankSum=-3.125;QD=0.39;ReadPosRankSum=3.673;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 0/1:68,19:87:64.12:64,0,1607
2 97818348 rs58438329 A G 940.74 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=45.79;MQ0=0;QD=36.18;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 1/1:0,26:26:75.21:974,75,0
2 97820332 rs77426384 C A 47.71 PASS AB=0.739;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.925;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9993;MQ=54.4;MQ0=0;MQRankSum=-2.626;QD=2.07;ReadPosRankSum=0.805;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 0/1:17,6:23:77.71:78,0,629
2 97820373 rs77468616 T C 41.38 QDFilter2 AB=0.829;AC=1;AF=0.50;AN=2;BaseQRankSum=0.591;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.82;MQ0=0;MQRankSum=-2.648;QD=1.18;ReadPosRankSum=0.985;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 0/1:29,6:35:71.38:71,0,992
2 97823971 rs13011421 T C 1727.87 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-2.825;DB;DP=52;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9734;MQ=55.97;MQ0=0;MQRankSum=3.632;QD=33.23;ReadPosRankSum=1.862;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 1/1:5,47:52:99:1761,138,0
2 97827737 rs76168297 C T 140.51 MQFilter40 AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.602;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.5115;MQ=34.69;MQ0=2;MQRankSum=-1.602;QD=5.02;ReadPosRankSum=-0.728;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 0/1:9,18:28:99:171,0,245
2 97827757 rs76324746 A G 181.89 MQFilter40 AB=0.394;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.562;DB;DP=33;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=35.33;MQ0=2;MQRankSum=-2.413;QD=5.51;ReadPosRankSum=0.304;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 0/1:13,20:33:99:212,0,385
2 97827787 rs113653147 G A 323.70 MQFilter40 AB=0.419;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.521;DB;DP=43;Dels=0.0;FS=5.932;HRun=1;HaplotypeScore=0.9867;MQ=36.41;MQ0=1;MQRankSum=-2.986;QD=7.53;ReadPosRankSum=1.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 0/1:18,25:43:99:354,0,458
2 97827800 rs111338734 A G 328.03 MQFilter40 AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=3.344;DB;DP=48;Dels=0.0;FS=2.127;HRun=0;HaplotypeScore=0.9867;MQ=33.64;MQ0=2;MQRankSum=-2.424;QD=6.83;ReadPosRankSum=-0.379;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 0/1:20,28:48:99:358,0,491
2 97827818 rs34725305 C CT 413.70 PASS AB=0.648;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.592;DB;DP=35;FS=1.585;HRun=12;HaplotypeScore=280.8606;IndelType=I;MQ=36.96;MQ0=4;MQRankSum=-1.491;QD=8.99;ReadPosRankSum=3.418;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 0/1:21,24:35:99:453,0,126
2 97827830 . T A 114.15 MQFilter40 AB=0.867;AC=1;AF=0.50;AN=2;BaseQRankSum=0.587;DP=45;Dels=0.0;FS=3.79;HRun=2;HaplotypeScore=7.9405;MQ=37.78;MQ0=4;MQRankSum=1.307;QD=2.54;ReadPosRankSum=-0.284;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 0/1:39,6:45:99:144,0,297
2 97827839 . G A 353.72 MQFilter40 AB=0.512;AC=1;AF=0.50;AN=2;BaseQRankSum=0.714;DP=43;Dels=0.0;FS=1.428;HRun=2;HaplotypeScore=5.9936;MQ=37.88;MQ0=4;MQRankSum=-0.532;QD=8.23;ReadPosRankSum=0.623;SNPEFF_AMINO_ACID_CHANGE=G465R;SNPEFF_CODON_CHANGE=Gga/Aga;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_97827836_97827875;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000420699 GT:AD:DP:GQ:PL 0/1:22,21:43:99:384,0,492
2 97827912 . G C 85.79 MQFilter40 AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.473;DP=34;Dels=0.0;FS=2.788;HRun=0;HaplotypeScore=0.6651;MQ=34.27;MQ0=1;MQRankSum=-4.154;QD=2.52;ReadPosRankSum=0.453;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 0/1:16,18:34:99:116,0,457
2 97827954 . G A 30.73 MQFilter40;QDFilter2 AB=0.529;AC=1;AF=0.50;AN=2;BaseQRankSum=0.337;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9983;MQ=33.94;MQ0=0;MQRankSum=-2.742;QD=1.81;ReadPosRankSum=-0.433;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 0/1:9,8:17:60.72:61,0,248
2 97829925 rs189153991 C G 32.63 MQFilter40;QDFilter2 AB=0.539;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.204;DB;DP=76;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=12.66;MQ0=53;MQRankSum=-2.871;QD=0.43;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 0/1:41,35:76:62.62:63,0,294
2 97829984 . A C 114.30 MQFilter40;QDFilter2 AB=0.569;AC=1;AF=0.50;AN=2;BaseQRankSum=4.85;DP=145;Dels=0.0;FS=12.842;HRun=2;HaplotypeScore=0.7887;MQ=12.71;MQ0=96;MQRankSum=-3.742;QD=0.79;ReadPosRankSum=-0.778;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 0/1:82,62:145:99:144,0,425
2 97829998 . A T 93.25 MQFilter40;QDFilter2 AB=0.52;AC=1;AF=0.50;AN=2;BaseQRankSum=1.183;DP=173;Dels=0.0;FS=11.769;HRun=2;HaplotypeScore=0.9159;MQ=13.75;MQ0=107;MQRankSum=-5.72;QD=0.54;ReadPosRankSum=-0.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 0/1:90,83:173:99:123,0,651
2 97830012 . C T 108.94 HaplotypeScoreFilter13;MQFilter40;QDFilter2 AB=0.475;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.166;DP=183;Dels=0.01;FS=18.248;HRun=3;HaplotypeScore=17.3678;MQ=13.68;MQ0=109;MQRankSum=-5.33;QD=0.59;ReadPosRankSum=-0.606;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 0/1:87,96:183:99:139,0,688
2 97830053 rs112213180 A G 95.50 MQFilter40;QDFilter2 AB=0.459;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.04;DB;DP=218;Dels=0.0;FS=3.267;HRun=0;HaplotypeScore=0.0;MQ=14.89;MQ0=128;MQRankSum=-5.896;QD=0.44;ReadPosRankSum=-0.144;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 0/1:100,118:218:99:125,0,1091
2 97830104 rs62153886 G A 875.80 HaplotypeScoreFilter13;MQFilter40 AB=0.392;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.638;DB;DP=237;DS;Dels=0.0;FS=0.733;HRun=0;HaplotypeScore=17.7922;MQ=25.63;MQ0=81;MQRankSum=-7.977;QD=3.7;ReadPosRankSum=2.243;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 0/1:85,132:237:99:906,0,1767
2 97833159 rs80186109 T A 65.31 MQFilter40 AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.634;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=26.75;MQ0=3;MQRankSum=-2.055;QD=3.27;ReadPosRankSum=-0.896;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 0/1:8,12:20:95.30:95,0,152
2 97833193 rs75122869 G A 496.61 MQFilter40 AB=0.414;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.429;DB;DP=58;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9933;MQ=27.15;MQ0=3;MQRankSum=-3.976;QD=8.56;ReadPosRankSum=1.048;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 0/1:24,34:58:99:527,0,567
2 97833342 rs5008284 G A 811.07 MQFilter40 AB=0.438;AC=1;AF=0.50;AN=2;BaseQRankSum=3.238;DB;DP=208;DS;Dels=0.0;FS=19.597;HRun=0;HaplotypeScore=1.7987;MQ=21.68;MQ0=60;MQRankSum=-3.79;QD=3.9;ReadPosRankSum=0.912;SNPEFF_AMINO_ACID_CHANGE=T520;SNPEFF_CODON_CHANGE=acG/acA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_97833314_97833342;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000420699 GT:AD:DP:GQ:PL 0/1:91,117:208:99:841,0,1385
2 97833361 rs1358633 A G 611.67 MQFilter40 AB=0.525;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.105;DB;DP=189;DS;Dels=0.0;FS=10.993;HRun=0;HaplotypeScore=9.9703;MQ=24.52;MQ0=41;MQRankSum=-4.679;QD=3.24;ReadPosRankSum=-1.695;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 0/1:93,84:189:99:642,0,1846
2 97833394 rs1636143 C T 207.07 HaplotypeScoreFilter13;MQFilter40;QDFilter2 AB=0.763;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.241;DB;DP=157;DS;Dels=0.0;FS=9.416;HRun=0;HaplotypeScore=56.2243;MQ=31.41;MQ0=7;MQRankSum=-3.401;QD=1.32;ReadPosRankSum=0.206;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 0/1:119,37:157:99:237,0,2813
2 97833399 . C T 202.56 HaplotypeScoreFilter13;MQFilter40;QDFilter2 AB=0.648;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.13;DP=159;DS;Dels=0.0;FS=26.84;HRun=0;HaplotypeScore=65.1763;MQ=32.95;MQ0=2;MQRankSum=-4.978;QD=1.27;ReadPosRankSum=-0.936;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 0/1:103,56:159:99:233,0,2705
2 97833401 rs5832832 T TATTAATCA 3447.12 PASS AB=0.771;AC=1;AF=0.50;AN=2;BaseQRankSum=8.575;DB;DP=137;FS=35.899;HRun=0;HaplotypeScore=1199.216;IndelType=I;MQ=32.1;MQ0=6;MQRankSum=-0.807;QD=20.04;ReadPosRankSum=-1.856;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 0/1:121,35:137:99:3447,0,6773
2 97833466 rs112133169 C T 1445.35 MQFilter40 AB=0.411;AC=1;AF=0.50;AN=2;BaseQRankSum=-6.289;DB;DP=242;DS;Dels=0.0;FS=37.785;HRun=0;HaplotypeScore=3.2698;MQ=23.93;MQ0=78;MQRankSum=-0.41;QD=5.97;ReadPosRankSum=1.927;SNPEFF_AMINO_ACID_CHANGE=A532V;SNPEFF_CODON_CHANGE=gCa/gTa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_97833432_97833504;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000420699 GT:AD:DP:GQ:PL 0/1:99,142:242:99:1475,0,1525
2 97833553 rs76811792 C T 1653.03 MQFilter40 AB=0.35;AC=1;AF=0.50;AN=2;BaseQRankSum=3.485;DB;DP=160;DS;Dels=0.0;FS=5.973;HRun=1;HaplotypeScore=10.9716;MQ=24.7;MQ0=31;MQRankSum=-0.514;QD=10.33;ReadPosRankSum=0.147;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 0/1:56,104:160:99:1683,0,915
2 97833567 rs76160111 A G 1645.48 HaplotypeScoreFilter13;MQFilter40 AB=0.463;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.022;DB;DP=150;DS;Dels=0.0;FS=11.574;HRun=1;HaplotypeScore=13.4371;MQ=27.23;MQ0=16;MQRankSum=-1.199;QD=10.97;ReadPosRankSum=-0.034;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 0/1:69,80:150:99:1675,0,1256
2 97833569 rs78400826 C T 1989.19 HaplotypeScoreFilter13;MQFilter40 AB=0.354;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.34;DB;DP=147;DS;Dels=0.0;FS=2.597;HRun=0;HaplotypeScore=14.4318;MQ=27.63;MQ0=13;MQRankSum=-1.449;QD=13.53;ReadPosRankSum=0.453;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 0/1:52,95:147:99:2019,0,950
2 97833583 rs72945197 C T 2440.12 MQFilter40 AB=0.29;AC=1;AF=0.50;AN=2;BaseQRankSum=4.297;DB;DP=145;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.9944;MQ=29.34;MQ0=7;MQRankSum=-2.038;QD=16.83;ReadPosRankSum=-1.223;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 0/1:42,103:145:99:2470,0,858
2 97833651 rs72945198 C A 1575.64 MQFilter40 AB=0.138;AC=1;AF=0.50;AN=2;BaseQRankSum=0.778;DB;DP=58;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9867;MQ=35.97;MQ0=0;MQRankSum=-2.334;QD=27.17;ReadPosRankSum=1.432;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 0/1:8,50:58:99:1606,0,148
2 97847272 . GA G 644.61 PASS AB=0.789;AC=1;AF=0.50;AN=2;BaseQRankSum=8.11;DP=137;FS=24.003;HRun=2;HaplotypeScore=673.8569;IndelType=D;MQ=41.28;MQ0=11;MQRankSum=-7.28;QD=4.3;ReadPosRankSum=-5.63;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 0/1:110,40:137:99:684,0,4374
2 97847303 . G A 488.77 MQFilter40 AB=0.777;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.737;DP=179;Dels=0.0;FS=35.323;HRun=0;HaplotypeScore=9.3847;MQ=36.95;MQ0=29;MQRankSum=-6.024;QD=2.73;ReadPosRankSum=2.89;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 0/1:139,40:179:99:519,0,3527
2 97847317 . T A 466.62 MQFilter40 AB=0.795;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.623;DP=195;Dels=0.0;FS=48.092;HRun=0;HaplotypeScore=1.6439;MQ=37.58;MQ0=29;MQRankSum=-5.824;QD=2.39;ReadPosRankSum=7.379;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 0/1:155,40:195:99:497,0,3826
2 97847606 rs2443851 A G 51.76 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=12.41;MQ0=11;QD=2.59;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 1/1:0,20:20:9:84,9,0
2 97849219 rs12996352 T C 3748.66 PASS AC=2;AF=1.00;AN=2;DB;DP=119;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.6208;MQ=55.64;MQ0=0;QD=31.5;SNPEFF_AMINO_ACID_CHANGE=W621R;SNPEFF_CODON_CHANGE=Tgg/Cgg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_97849196_97849224;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000420699 GT:AD:DP:GQ:PL 1/1:0,119:119:99:3749,301,0
2 97851069 rs62154801 A G 5857.55 PASS AC=2;AF=1.00;AN=2;DB;DP=185;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7128;MQ=43.54;MQ0=0;QD=31.66;SNPEFF_AMINO_ACID_CHANGE=Q14;SNPEFF_CODON_CHANGE=caA/caG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_97851053_97851081;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000461694 GT:AD:DP:GQ:PL 1/1:0,184:185:99:5858,457,0
2 97856461 rs62154807 G A 47.20 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=47.9;MQ0=0;QD=9.44;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 1/1:0,5:5:6.02:78,6,0
2 97860223 rs4530406 C T 240.09 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=43.29;MQ0=0;QD=34.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:273,21,0
2 97860487 rs59466168 T C 3157.45 MQFilter40 AB=0.436;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.391;DB;DP=236;DS;Dels=0.0;FS=23.329;HRun=0;HaplotypeScore=4.4418;MQ=30.49;MQ0=46;MQRankSum=0.827;QD=13.38;ReadPosRankSum=0.628;SNPEFF_AMINO_ACID_CHANGE=L187S;SNPEFF_CODON_CHANGE=tTg/tCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_97860463_97860491;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000461694 GT:AD:DP:GQ:PL 0/1:103,133:236:99:3187,0,1371
2 97860738 rs62154813 A G 170.22 PASS AB=0.719;AC=1;AF=0.50;AN=2;BaseQRankSum=2.198;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=54.79;MQ0=0;MQRankSum=-0.37;QD=5.32;ReadPosRankSum=0.5;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 0/1:23,9:32:99:200,0,790
2 97862260 rs1901501 T A 3733.88 PASS AC=2;AF=1.00;AN=2;DB;DP=108;Dels=0.01;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=58.63;MQ0=0;QD=34.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 1/1:0,108:108:99:3734,277,0
2 97862396 rs7573581 G A 3407.18 PASS AB=0.297;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.738;DB;DP=145;Dels=0.0;FS=6.912;HRun=0;HaplotypeScore=1.3123;MQ=59.23;MQ0=0;MQRankSum=-1.11;QD=23.5;ReadPosRankSum=0.175;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 0/1:43,102:145:99:3407,0,1191
2 97862656 rs4577322 C T 267.21 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=46.83;MQ0=0;QD=29.69;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 1/1:0,9:9:24.07:300,24,0
2 97864288 rs56159881 T C 4827.47 PASS AC=2;AF=1.00;AN=2;DB;DP=146;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=52.31;MQ0=2;QD=33.06;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 1/1:0,146:146:99:4827,379,0
2 97864333 rs61218502 C A 2590.20 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=102;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9734;MQ=39.24;MQ0=6;QD=25.39;SNPEFF_AMINO_ACID_CHANGE=A260D;SNPEFF_CODON_CHANGE=gCc/gAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_97864323_97864395;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000461694 GT:AD:DP:GQ:PL 1/1:0,102:102:99:2623,217,0
2 97864334 rs56835800 C T 2605.02 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=101;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9734;MQ=38.97;MQ0=6;QD=25.79;SNPEFF_AMINO_ACID_CHANGE=A260;SNPEFF_CODON_CHANGE=gcC/gcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_97864323_97864395;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000461694 GT:AD:DP:GQ:PL 1/1:0,101:101:99:2638,220,0
2 97864374 rs60795069 G T 1863.87 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=75;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.2312;MQ=28.43;MQ0=7;QD=24.85;SNPEFF_AMINO_ACID_CHANGE=D274Y;SNPEFF_CODON_CHANGE=Gat/Tat;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_97864323_97864395;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000461694 GT:AD:DP:GQ:PL 1/1:0,75:75:99:1897,171,0
2 97865829 rs1839920 A G 187.60 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.633;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.11;MQ0=0;MQRankSum=-1.447;QD=18.76;ReadPosRankSum=0.741;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 0/1:4,6:10:99:218,0,136
2 97866299 rs56289967 C A 489.15 PASS AB=0.548;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.02;DB;DP=42;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9332;MQ=58.89;MQ0=0;MQRankSum=0.902;QD=11.65;ReadPosRankSum=1.138;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000455519 GT:AD:DP:GQ:PL 0/1:23,19:42:99:519,0,743
2 97866370 rs55879702 A G 226.91 PASS AB=0.55;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.975;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.228;QD=11.35;ReadPosRankSum=-0.912;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000455519 GT:AD:DP:GQ:PL 0/1:11,9:20:99:257,0,406
2 97867870 rs9324211 G C 4452.42 PASS AC=2;AF=1.00;AN=2;DB;DP=122;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=5.7923;MQ=59.81;MQ0=0;QD=36.5;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000455519 GT:AD:DP:GQ:PL 1/1:0,121:122:99:4452,328,0
2 97869539 rs6577003 A G 129.27 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.742;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=49.48;MQ0=0;MQRankSum=-0.742;QD=18.47;ReadPosRankSum=-0.742;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000455519 GT:AD:DP:GQ:PL 1/1:1,6:7:15.02:162,15,0
2 97870051 rs6577004 G A 736.36 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.082;DB;DP=45;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=50.59;MQ0=0;MQRankSum=-1.263;QD=16.36;ReadPosRankSum=-1.126;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 0/1:21,24:45:99:766,0,615
2 97871442 rs4524160 G A 50.63 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=48.99;MQ0=1;QD=16.88;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 1/1:1,2:3:6.02:82,6,0
2 97873393 rs6718582 C T 614.98 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=46.54;MQ0=1;QD=30.75;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 1/1:0,19:20:51.16:648,51,0
2 97873515 rs4063410 C T 1789.56 MQFilter40 AC=2;AF=1.00;AN=2;BaseQRankSum=0.541;DB;DP=80;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=32.8;MQ0=16;MQRankSum=-0.974;QD=22.37;ReadPosRankSum=0.65;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 1/1:1,79:80:99:1823,130,0
2 97873630 rs12052928 A T 2824.13 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.062;DB;DP=100;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.6988;MQ=40.05;MQ0=7;MQRankSum=-0.726;QD=27.96;ReadPosRankSum=-0.205;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289105 GT:AD:DP:GQ:PL 1/1:3,97:100:99:2857,193,0
2 97875309 . T C 75.45 MQFilter40;QDFilter2 AB=0.777;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.082;DP=94;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=39.35;MQ0=9;MQRankSum=-4.59;QD=0.8;ReadPosRankSum=1.775;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000393513 GT:AD:DP:GQ:PL 0/1:73,21:94:99:105,0,2251
2 97877003 rs12995537 C T 221.02 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=44.39;MQ0=0;QD=27.63;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000393513 GT:AD:DP:GQ:PL 1/1:1,7:8:21.06:254,21,0
2 97877292 rs10171441 C A 8504.17 PASS AC=2;AF=1.00;AN=2;DB;DP=242;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7005;MQ=58.11;MQ0=0;QD=35.14;SNPEFF_AMINO_ACID_CHANGE=P1126Q;SNPEFF_CODON_CHANGE=cCg/cAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_97877283_97877311;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000420699 GT:AD:DP:GQ:PL 1/1:0,242:242:99:8504,617,0
2 97877399 rs10186233 T C 5238.50 PASS AC=2;AF=1.00;AN=2;DB;DP=146;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.6634;MQ=59.51;MQ0=0;QD=35.88;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000393513 GT:AD:DP:GQ:PL 1/1:0,146:146:99:5238,400,0
2 97877440 rs35711845 T C 4109.44 PASS AC=2;AF=1.00;AN=2;DB;DP=132;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7005;MQ=59.51;MQ0=0;QD=31.13;SNPEFF_AMINO_ACID_CHANGE=M1144T;SNPEFF_CODON_CHANGE=aTg/aCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_97877406_97877478;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000420699 GT:AD:DP:GQ:PL 1/1:0,132:132:99:4109,322,0
2 97879162 rs140729730 G C 41.51 MQFilter40;QDFilter2 AC=2;AF=1.00;AN=2;DB;DP=178;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=3.46;MQ0=176;QD=0.23;SNPEFF_AMINO_ACID_CHANGE=C1159S;SNPEFF_CODON_CHANGE=tGt/tCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_97879156_97879184;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000420699 GT:AD:DP:GQ:PL 1/1:45,132:178:6.02:73,6,0
2 97883087 rs62156175 A G 338.79 PASS AB=0.789;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.311;DB;DP=142;Dels=0.0;FS=6.042;HRun=2;HaplotypeScore=0.7887;MQ=42.37;MQ0=5;MQRankSum=-3.508;QD=2.39;ReadPosRankSum=-0.924;SNPEFF_AMINO_ACID_CHANGE=T1277;SNPEFF_CODON_CHANGE=acA/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_97883037_97883109;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD36;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000420699 GT:AD:DP:GQ:PL 0/1:112,30:142:99:369,0,3023
2 98018864 rs10199493 A G 880.07 PASS AB=0.515;AC=1;AF=0.50;AN=2;BaseQRankSum=0.107;DB;DP=66;Dels=0.0;FS=23.322;HRun=1;HaplotypeScore=0.8941;MQ=59.58;MQ0=0;MQRankSum=-1.169;QD=13.33;ReadPosRankSum=0.081;SNPEFF_EFFECT=INTERGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 0/1:34,32:66:99:910,0,1181
2 98129603 . TAA T 236.98 QDFilter2 AB=0.847;AC=1;AF=0.50;AN=2;BaseQRankSum=5.017;DP=71;FS=0.0;HRun=2;HaplotypeScore=390.2469;IndelType=D;MQ=19.31;MQ0=41;MQRankSum=-5.05;QD=1.58;ReadPosRankSum=-0.24;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ANKRD36B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258459 GT:AD:DP:GQ:PL 0/1:123,27:71:99:276,0,3484
2 98129670 rs146414302 C T 89.06 MQFilter40;QDFilter2 AB=0.843;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.523;DB;DP=249;DS;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.9367;MQ=12.57;MQ0=94;MQRankSum=-2.129;QD=0.36;ReadPosRankSum=-0.404;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ANKRD36B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258459 GT:AD:DP:GQ:PL 0/1:209,39:249:99:119,0,898
2 98129682 rs140574837 T C 103.75 MQFilter40;QDFilter2 AB=0.77;AC=1;AF=0.50;AN=2;BaseQRankSum=2.743;DB;DP=240;DS;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=4.5514;MQ=12.62;MQ0=87;MQRankSum=-4.447;QD=0.43;ReadPosRankSum=-0.053;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ANKRD36B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258459 GT:AD:DP:GQ:PL 0/1:184,55:240:99:134,0,903
2 98129683 rs146417104 G A 97.74 MQFilter40;QDFilter2 AB=0.804;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.574;DB;DP=240;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=4.5514;MQ=12.98;MQ0=85;MQRankSum=-4.833;QD=0.41;ReadPosRankSum=0.014;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ANKRD36B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258459 GT:AD:DP:GQ:PL 0/1:193,47:240:99:128,0,964
2 98129744 rs141594775 C T 472.07 FSFilter60;MQFilter40;QDFilter2 AB=0.664;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.363;DB;DP=250;DS;Dels=0.0;FS=67.314;HRun=2;HaplotypeScore=1.5717;MQ=19.48;MQ0=32;MQRankSum=-7.945;QD=1.89;ReadPosRankSum=-7.537;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ANKRD36B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258459 GT:AD:DP:GQ:PL 0/1:166,84:250:99:502,0,2657
2 98129817 . T C 603.07 MQFilter40 AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=3.275;DP=230;DS;Dels=0.0;FS=34.759;HRun=0;HaplotypeScore=2.5528;MQ=15.13;MQ0=64;MQRankSum=-4.899;QD=2.61;ReadPosRankSum=1.772;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ANKRD36B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258459 GT:AD:DP:GQ:PL 0/1:121,109:230:99:633,0,1246
2 98162430 . T C 814.89 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.502;DP=30;Dels=0.0;FS=9.7;HRun=0;HaplotypeScore=3.9933;MQ=59.23;MQ0=0;MQRankSum=1.617;QD=27.16;ReadPosRankSum=-1.155;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ANKRD36B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443455 GT:AD:DP:GQ:PL 1/1:1,29:30:44.79:848,45,0
2 98163927 rs12993579 A T 313.79 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=1.022;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=52.02;MQ0=0;MQRankSum=-3.528;QD=14.26;ReadPosRankSum=-1.352;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ANKRD36B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000419390 GT:AD:DP:GQ:PL 0/1:10,12:22:99:344,0,335
2 98164084 rs13017744 T A 1029.06 PASS AB=0.511;AC=1;AF=0.50;AN=2;BaseQRankSum=0.335;DB;DP=92;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=5.6819;MQ=40.94;MQ0=1;MQRankSum=-3.217;QD=11.19;ReadPosRankSum=0.149;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ANKRD36B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000419390 GT:AD:DP:GQ:PL 0/1:47,45:92:99:1059,0,1358
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2 98169742 rs12998184 A C 2299.31 PASS AB=0.443;AC=1;AF=0.50;AN=2;BaseQRankSum=2.632;DB;DP=140;Dels=0.0;FS=9.176;HRun=0;HaplotypeScore=0.0;MQ=54.37;MQ0=0;MQRankSum=0.342;QD=16.42;ReadPosRankSum=-0.073;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ANKRD36B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258459 GT:AD:DP:GQ:PL 0/1:62,78:140:99:2329,0,1941
2 98169901 rs12712055 G T 710.92 MQFilter40 AB=0.56;AC=1;AF=0.50;AN=2;BaseQRankSum=0.997;DB;DP=91;Dels=0.01;FS=1.174;HRun=0;HaplotypeScore=2.772;MQ=35.93;MQ0=6;MQRankSum=-1.896;QD=7.73;ReadPosRankSum=-0.34;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ANKRD36B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258459 GT:AD:DP:GQ:PL 0/1:51,40:91:99:741,0,1166
2 98171807 rs12712057 T C 715.85 PASS AB=0.594;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.48;DB;DP=69;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.35;MQ0=0;MQRankSum=0.607;QD=10.37;ReadPosRankSum=0.224;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ANKRD36B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258459 GT:AD:DP:GQ:PL 0/1:41,28:69:99:746,0,1403
2 98173368 rs13015850 C T 328.21 MQFilter40 AB=0.468;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.365;DB;DP=79;Dels=0.0;FS=2.348;HRun=0;HaplotypeScore=0.0;MQ=29.04;MQ0=2;MQRankSum=-0.406;QD=4.15;ReadPosRankSum=0.406;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ANKRD36B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258459 GT:AD:DP:GQ:PL 0/1:37,42:79:99:358,0,838
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2 98177124 rs11681640 T G 1366.33 PASS AB=0.564;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.189;DB;DP=133;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9799;MQ=47.02;MQ0=4;MQRankSum=-2.247;QD=10.27;ReadPosRankSum=-0.132;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ANKRD36B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258459 GT:AD:DP:GQ:PL 0/1:75,58:133:99:1396,0,2094
2 98177305 rs114646833 C G 281.83 PASS AB=0.646;AC=1;AF=0.50;AN=2;BaseQRankSum=3.289;DB;DP=99;Dels=0.0;FS=23.764;HRun=1;HaplotypeScore=0.0;MQ=41.65;MQ0=12;MQRankSum=-6.583;QD=2.85;ReadPosRankSum=1.34;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ANKRD36B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258459 GT:AD:DP:GQ:PL 0/1:64,35:99:99:312,0,1937
2 98195213 rs13427163 T C 226.64 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=2.793;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=52.26;MQ0=0;MQRankSum=1.635;QD=18.89;ReadPosRankSum=2.367;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ANKRD36B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258459 GT:AD:DP:GQ:PL 0/1:5,7:12:99:257,0,149
2 98195581 rs13419462 C T 176.48 PASS AB=0.729;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.112;DB;DP=48;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=43.16;MQ0=2;MQRankSum=-3.837;QD=3.68;ReadPosRankSum=-0.979;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ANKRD36B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258459 GT:AD:DP:GQ:PL 0/1:35,13:48:99:206,0,1237
2 98196707 rs7588718 G T 203.37 MQFilter40 AB=0.111;AC=1;AF=0.50;AN=2;BaseQRankSum=0.751;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=35.2;MQ0=0;MQRankSum=-0.751;QD=22.6;ReadPosRankSum=0.751;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ANKRD36B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258459 GT:AD:DP:GQ:PL 0/1:1,8:9:14.18:233,0,14
2 98196849 rs34131105 G A 1592.20 PASS AB=0.391;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.098;DB;DP=87;Dels=0.0;FS=4.495;HRun=0;HaplotypeScore=1.7781;MQ=57.74;MQ0=0;MQRankSum=-2.671;QD=18.3;ReadPosRankSum=0.476;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ANKRD36B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258459 GT:AD:DP:GQ:PL 0/1:34,53:87:99:1622,0,1005
2 98196859 rs35904593 T G 1678.81 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=3.845;DB;DP=95;Dels=0.0;FS=1.034;HRun=1;HaplotypeScore=0.9894;MQ=57.45;MQ0=0;MQRankSum=-0.319;QD=17.67;ReadPosRankSum=0.154;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ANKRD36B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258459 GT:AD:DP:GQ:PL 0/1:38,57:95:99:1709,0,969
2 98205924 rs74177639 C G 128.49 PASS AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=0.222;DB;DP=19;Dels=0.0;FS=6.021;HRun=1;HaplotypeScore=0.9832;MQ=40.86;MQ0=1;MQRankSum=-3.065;QD=6.76;ReadPosRankSum=0.578;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ANKRD36B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258459 GT:AD:DP:GQ:PL 0/1:10,9:19:99:158,0,272
2 98206188 rs1868445 C G 580 PASS AB=0.45;AC=1;AF=0.50;AN=2;BaseQRankSum=2.76;DB;DP=40;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.7887;MQ=56.91;MQ0=0;MQRankSum=0.147;QD=14.5;ReadPosRankSum=0.294;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ANKRD36B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258459 GT:AD:DP:GQ:PL 0/1:18,22:40:99:610,0,406
2 98206282 rs28415903 C T 95.28 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=0.72;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=49.17;MQ0=0;MQRankSum=0.0;QD=13.61;ReadPosRankSum=-0.72;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ANKRD36B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258459 GT:AD:DP:GQ:PL 0/1:3,4:7:21.93:125,0,22
2 98273290 rs11547232 C T 108.12 PASS AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=18.02;ReadPosRankSum=-0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACTR1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000451664 GT:AD:DP:GQ:PL 0/1:1,5:6:26.71:138,0,27
2 98273661 rs2290124 A G 305.58 PASS AB=0.44;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.52;DB;DP=25;Dels=0.0;FS=6.825;HRun=2;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=0.63;QD=12.22;ReadPosRankSum=0.465;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACTR1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000451664 GT:AD:DP:GQ:PL 0/1:11,14:25:99:336,0,358
2 98274527 rs1042705 G C 1157.97 PASS AB=0.482;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.336;DB;DP=85;Dels=0.0;FS=3.504;HRun=4;HaplotypeScore=3.5556;MQ=59.46;MQ0=0;MQRankSum=-0.27;QD=13.62;ReadPosRankSum=-1.065;SNPEFF_AMINO_ACID_CHANGE=V268;SNPEFF_CODON_CHANGE=gtC/gtG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_98274406_98274580;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACTR1B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000289228 GT:AD:DP:GQ:PL 0/1:41,44:85:99:1188,0,1199
2 98276014 rs66578546 CCCTCACCTGCCCTGACCAGAA C 516.43 PASS AB=0.773;AC=1;AF=0.50;AN=2;BaseQRankSum=2.927;DB;DP=17;FS=0.0;HRun=0;HaplotypeScore=277.2221;IndelType=D;MQ=55.38;MQ0=0;MQRankSum=-1.67;QD=30.38;ReadPosRankSum=1.092;SNPEFF_EFFECT=SPLICE_SITE_ACCEPTOR;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACTR1B;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000460427 GT:AD:DP:GQ:PL 0/1:12,5:17:99:555,0,1152
2 98374003 rs10169155 T G 124.72 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.94;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=TMEM131;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465767 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:157,12,0
2 98375722 rs2305142 A G 92.19 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.05;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=TMEM131;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465767 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:124,9,0
2 98376989 rs3214760 TA T 703.05 PASS AC=2;AF=1.00;AN=2;DB;DP=23;FS=0.0;HRun=5;HaplotypeScore=66.28;IndelType=D;MQ=60.13;MQ0=0;QD=30.57;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=TMEM131;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000186436 GT:AD:DP:GQ:PL 1/1:1,22:23:66.19:745,66,0
2 98389086 rs12712117 C T 257.16 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.74;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=TMEM131;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000186436 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:290,21,0
2 98392302 rs17489259 G A 430.09 PASS AB=0.458;AC=1;AF=0.50;AN=2;BaseQRankSum=2.897;DB;DP=24;Dels=0.0;FS=4.216;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.753;QD=17.92;ReadPosRankSum=1.68;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=TMEM131;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000186436 GT:AD:DP:GQ:PL 0/1:11,13:24:99:460,0,254
2 98413063 rs2293679 G T 165.03 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=55.21;MQ0=0;QD=33.01;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=TMEM131;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000186436 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:198,15,0
2 98418696 rs7595039 T C 114.23 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.56;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=TMEM131;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000186436 GT:AD:DP:GQ:PL 1/1:0,4:4:12.03:147,12,0
2 98418812 rs66479917 CA C 1443.99 PASS AC=2;AF=1.00;AN=2;DB;DP=40;FS=0.0;HRun=3;HaplotypeScore=104.51;IndelType=D;MQ=60.27;MQ0=0;QD=36.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=TMEM131;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000186436 GT:AD:DP:GQ:PL 1/1:0,40:40:99:1486,120,0
2 98422296 rs1960329 T C 247.37 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.34;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=TMEM131;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000186436 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:280,21,0
2 98435246 rs78683450 T C 918.58 PASS AB=0.385;AC=1;AF=0.50;AN=2;BaseQRankSum=0.497;DB;DP=52;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.01;QD=17.67;ReadPosRankSum=1.471;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=TMEM131;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000186436 GT:AD:DP:GQ:PL 0/1:20,32:52:99:949,0,629
2 98443694 rs13010004 C T 416.69 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.33;MQ0=0;QD=29.76;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=TMEM131;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000186436 GT:AD:DP:GQ:PL 1/1:0,13:14:36.11:450,36,0
2 98449748 . G C 312 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=1.466;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.133;QD=17.33;ReadPosRankSum=0.578;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=TMEM131;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000186436 GT:AD:DP:GQ:PL 0/1:8,10:18:99:342,0,267
2 98449796 rs6721250 C T 1286.45 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.85;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=TMEM131;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000186436 GT:AD:DP:GQ:PL 1/1:0,38:38:96.30:1319,96,0
2 98451036 rs34454073 TA T 177.37 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.737;DB;DP=15;FS=0.0;HRun=14;HaplotypeScore=60.1981;IndelType=D;MQ=58.36;MQ0=0;MQRankSum=1.47;QD=11.82;ReadPosRankSum=-0.935;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=TMEM131;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000186436 GT:AD:DP:GQ:PL 1/1:2,12:15:10.85:219,11,0
2 98460441 rs66477711 TAG T 209.95 PASS AC=2;AF=1.00;AN=2;DB;DP=6;FS=0.0;HRun=0;HaplotypeScore=21.1336;IndelType=D;MQ=61.78;MQ0=0;QD=34.99;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=TMEM131;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000186436 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:252,18,0
2 98460742 rs12712162 G A 1612.72 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.8321;MQ=59.5;MQ0=0;QD=35.06;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=TMEM131;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000186436 GT:AD:DP:GQ:PL 1/1:0,46:46:99:1646,126,0
2 98460855 rs6543161 G A 206.31 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.47;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=TMEM131;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000186436 GT:AD:DP:GQ:PL 1/1:0,7:7:18.06:239,18,0
2 98475979 rs6707750 C T 845.88 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.25;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=TMEM131;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000186436 GT:AD:DP:GQ:PL 1/1:0,24:24:66.21:879,66,0
2 98525107 rs1317178 T C 1169.57 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.49;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=TMEM131;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000186436 GT:AD:DP:GQ:PL 1/1:0,36:36:90.27:1203,90,0
2 98544058 rs6707719 T C 249.07 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.9;MQ0=0;QD=27.67;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=TMEM131;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000186436 GT:AD:DP:GQ:PL 1/1:0,9:9:24.07:282,24,0
2 98611994 rs2279824 G T 88.85 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.21;SNPEFF_AMINO_ACID_CHANGE=G44;SNPEFF_CODON_CHANGE=ggC/ggA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_98611939_98612354;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=TMEM131;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000186436 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:121,9,0
2 98709684 rs298917 T C 994.65 PASS AB=0.339;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.363;DB;DP=56;Dels=0.0;FS=2.503;HRun=0;HaplotypeScore=0.9958;MQ=59.17;MQ0=0;MQRankSum=-0.996;QD=17.76;ReadPosRankSum=-0.619;SNPEFF_AMINO_ACID_CHANGE=H43;SNPEFF_CODON_CHANGE=caT/caC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_98709524_98709751;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=VWA3B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000435344 GT:AD:DP:GQ:PL 0/1:19,37:56:99:1025,0,528
2 98811075 rs7579916 A G 680.98 PASS AB=0.442;AC=1;AF=0.50;AN=2;BaseQRankSum=1.895;DB;DP=43;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.8321;MQ=58.37;MQ0=0;MQRankSum=-0.819;QD=15.84;ReadPosRankSum=-0.208;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=VWA3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000435344 GT:AD:DP:GQ:PL 0/1:19,24:43:99:711,0,637
2 98828389 rs62154945 G A 901.56 PASS AB=0.385;AC=1;AF=0.50;AN=2;BaseQRankSum=4.166;DB;DP=52;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9832;MQ=60.0;MQ0=0;MQRankSum=0.292;QD=17.34;ReadPosRankSum=-1.176;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=VWA3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000435344 GT:AD:DP:GQ:PL 0/1:20,32:52:99:932,0,484
2 98833445 rs67163987 A ACCCC 502.28 PASS AB=0.816;AC=1;AF=0.50;AN=2;BaseQRankSum=4.104;DB;DP=31;FS=1.564;HRun=3;HaplotypeScore=145.041;IndelType=I;MQ=56.96;MQ0=0;MQRankSum=-0.399;QD=16.2;ReadPosRankSum=-1.946;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=VWA3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000422503 GT:AD:DP:GQ:PL 0/1:24,7:31:99:541,0,1088
2 98833594 rs10172087 C T 32.46 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=1.495;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.198;QD=4.64;ReadPosRankSum=-1.495;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=VWA3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000422503 GT:AD:DP:GQ:PL 0/1:5,2:7:62.45:62,0,167
2 98834550 rs62156669 G A 441.20 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.283;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.489;QD=16.97;ReadPosRankSum=-0.54;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=VWA3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000422503 GT:AD:DP:GQ:PL 0/1:12,14:26:99:471,0,389
2 98844575 rs7606220 A G 138.98 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=0.412;DB;DP=15;Dels=0.0;FS=3.979;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.766;QD=9.27;ReadPosRankSum=1.002;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=VWA3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477737 GT:AD:DP:GQ:PL 0/1:9,6:15:99:169,0,328
2 98844674 rs7601049 C G 646.62 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.716;DB;DP=44;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=58.95;MQ0=0;MQRankSum=0.082;QD=14.7;ReadPosRankSum=-1.185;SNPEFF_AMINO_ACID_CHANGE=L677V;SNPEFF_CODON_CHANGE=Ctg/Gtg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_98844665_98844795;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=VWA3B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000477737 GT:AD:DP:GQ:PL 0/1:22,22:44:99:677,0,746
2 98846405 rs12712252 A T 112.36 PASS AB=0.588;AC=1;AF=0.50;AN=2;BaseQRankSum=2.293;DB;DP=17;Dels=0.0;FS=3.854;HRun=5;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.22;QD=6.61;ReadPosRankSum=1.415;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=VWA3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000433678 GT:AD:DP:GQ:PL 0/1:10,7:17:99:142,0,349
2 98851631 rs4494805 C T 63.73 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=15.93;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=VWA3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477737 GT:AD:DP:GQ:PL 0/1:1,3:4:30.97:94,0,31
2 98853364 rs13033263 C A 120.34 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.45;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9983;MQ=55.66;MQ0=0;MQRankSum=-0.336;QD=10.94;ReadPosRankSum=0.103;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=VWA3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000416277 GT:AD:DP:GQ:PL 0/1:5,5:11:99:150,0,148
2 98853373 rs13013876 G T 133.84 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.684;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9983;MQ=53.95;MQ0=0;MQRankSum=-0.684;QD=16.73;ReadPosRankSum=-0.322;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=VWA3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000416277 GT:AD:DP:GQ:PL 0/1:3,5:8:98.56:164,0,99
2 98862097 rs4851121 A G 555.51 PASS AB=0.382;AC=1;AF=0.50;AN=2;BaseQRankSum=1.099;DB;DP=35;Dels=0.0;FS=3.323;HRun=0;HaplotypeScore=0.9947;MQ=50.9;MQ0=0;MQRankSum=-2.552;QD=15.87;ReadPosRankSum=1.169;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=VWA3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358269 GT:AD:DP:GQ:PL 0/1:13,21:35:99:586,0,434
2 98862106 rs62156717 G A 533.49 PASS AB=0.412;AC=1;AF=0.50;AN=2;BaseQRankSum=2.047;DB;DP=34;Dels=0.0;FS=5.305;HRun=2;HaplotypeScore=0.9947;MQ=50.6;MQ0=0;MQRankSum=-2.887;QD=15.69;ReadPosRankSum=1.102;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=VWA3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358269 GT:AD:DP:GQ:PL 0/1:14,20:34:99:563,0,465
2 98862150 . A AGTATTCT 1360.89 PASS AB=0.72;AC=1;AF=0.50;AN=2;BaseQRankSum=1.639;DP=18;FS=0.0;HRun=0;HaplotypeScore=150.4719;IndelType=I;MQ=41.96;MQ0=0;MQRankSum=-3.419;QD=75.6;ReadPosRankSum=0.328;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=VWA3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358269 GT:AD:DP:GQ:PL 0/1:11,7:18:99:1400,0,421
2 98872662 rs113487988 C CTT 492.87 PASS AB=0.776;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.057;DB;DP=65;FS=1.228;HRun=11;HaplotypeScore=283.7935;IndelType=I;MQ=57.45;MQ0=0;MQRankSum=0.195;QD=7.47;ReadPosRankSum=-0.852;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=VWA3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358269 GT:AD:DP:GQ:PL 0/1:45,15:65:99:532,0,691
2 98887116 rs4851955 G C 2287.18 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.88;MQ0=0;QD=33.64;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=VWA3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358269 GT:AD:DP:GQ:PL 1/1:0,68:68:99:2320,175,0
2 98887120 rs62157894 G T 651.64 PASS AB=0.541;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.438;DB;DP=74;Dels=0.0;FS=3.587;HRun=3;HaplotypeScore=0.0;MQ=56.81;MQ0=0;MQRankSum=-0.603;QD=8.81;ReadPosRankSum=-1.233;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=VWA3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358269 GT:AD:DP:GQ:PL 0/1:40,34:74:99:682,0,1275
2 98887132 rs62157895 C G 937.53 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.161;DB;DP=77;Dels=0.0;FS=3.105;HRun=0;HaplotypeScore=0.0;MQ=56.94;MQ0=0;MQRankSum=-0.133;QD=12.18;ReadPosRankSum=-1.237;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=VWA3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358269 GT:AD:DP:GQ:PL 0/1:42,35:77:99:968,0,1325
2 98887355 rs62157896 C A 417.87 PASS AB=0.524;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.49;DB;DP=42;Dels=0.0;FS=4.09;HRun=0;HaplotypeScore=0.0;MQ=58.89;MQ0=0;MQRankSum=0.614;QD=9.95;ReadPosRankSum=-0.405;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=VWA3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358269 GT:AD:DP:GQ:PL 0/1:22,20:42:99:448,0,765
2 98887442 rs80205946 C T 205.74 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=3.016;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=58.2;MQ0=0;MQRankSum=0.935;QD=15.83;ReadPosRankSum=0.101;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=VWA3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358269 GT:AD:DP:GQ:PL 0/1:6,7:13:99:236,0,142
2 98906955 rs62155282 T C 535.53 PASS AB=0.382;AC=1;AF=0.50;AN=2;BaseQRankSum=1.492;DB;DP=34;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.5784;MQ=59.32;MQ0=0;MQRankSum=0.461;QD=15.75;ReadPosRankSum=0.682;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=VWA3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358269 GT:AD:DP:GQ:PL 0/1:13,21:34:99:566,0,402
2 98907089 . GT G 336.92 PASS AB=0.733;AC=1;AF=0.50;AN=2;BaseQRankSum=2.631;DP=66;FS=2.539;HRun=13;HaplotypeScore=244.5261;IndelType=D;MQ=58.33;MQ0=0;MQRankSum=-0.709;QD=5.1;ReadPosRankSum=1.097;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=VWA3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358269 GT:AD:DP:GQ:PL 0/1:40,24:66:99:376,0,563
2 98914559 rs62155296 C T 169.79 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=3.399;DB;DP=24;Dels=0.0;FS=4.586;HRun=0;HaplotypeScore=0.0;MQ=59.03;MQ0=0;MQRankSum=1.072;QD=7.07;ReadPosRankSum=-0.153;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=VWA3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358269 GT:AD:DP:GQ:PL 0/1:16,8:24:99:200,0,460
2 98928429 rs17428626 C G 215.61 PASS AB=0.273;AC=1;AF=0.50;AN=2;BaseQRankSum=1.708;DB;DP=11;Dels=0.0;FS=3.09;HRun=0;HaplotypeScore=0.0;MQ=57.87;MQ0=0;MQRankSum=0.382;QD=19.6;ReadPosRankSum=-1.106;SNPEFF_AMINO_ACID_CHANGE=D1223E;SNPEFF_CODON_CHANGE=gaC/gaG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_98928282_98928495;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=VWA3B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000477737 GT:AD:DP:GQ:PL 0/1:3,8:11:82.27:246,0,82
2 98928494 rs7587534 G A 183.80 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.63;SNPEFF_AMINO_ACID_CHANGE=R1245K;SNPEFF_CODON_CHANGE=aGg/aAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_98928282_98928495;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=VWA3B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000477737 GT:AD:DP:GQ:PL 1/1:0,6:6:18.04:217,18,0
2 98928929 rs1466944 A G 403.21 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.87;MQ0=0;QD=36.66;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=VWA3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000490947 GT:AD:DP:GQ:PL 1/1:0,11:11:33.11:436,33,0
2 98948224 rs13427344 C A 1437.73 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.84;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC092675.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000454230 GT:AD:DP:GQ:PL 1/1:0,38:38:99:1471,111,0
2 98949483 rs7571110 T C 36.55 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=47.12;MQ0=0;QD=18.27;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC092675.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000454230 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:68,6,0
2 98986510 rs6727412 T C 448.09 PASS AB=0.576;AC=1;AF=0.50;AN=2;BaseQRankSum=1.842;DB;DP=33;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.841;MQ=60.0;MQ0=0;MQRankSum=-0.209;QD=13.58;ReadPosRankSum=-0.855;SNPEFF_AMINO_ACID_CHANGE=D24;SNPEFF_CODON_CHANGE=gaT/gaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_98986400_98986539;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNGA3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000272602 GT:AD:DP:GQ:PL 0/1:19,14:33:99:478,0,546
2 98994414 rs937725 T C 358.20 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.82;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNGA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272602 GT:AD:DP:GQ:PL 1/1:0,10:10:30.08:391,30,0
2 99149946 rs2278211 G A 1296.83 PASS AB=0.383;AC=1;AF=0.50;AN=2;BaseQRankSum=3.037;DB;DP=81;Dels=0.0;FS=4.7;HRun=0;HaplotypeScore=0.0;MQ=59.54;MQ0=0;MQRankSum=-1.27;QD=16.01;ReadPosRankSum=-1.913;SNPEFF_AMINO_ACID_CHANGE=T86;SNPEFF_CODON_CHANGE=acG/acA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_99149840_99149958;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INPP4A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000074304 GT:AD:DP:GQ:PL 0/1:31,50:81:99:1327,0,942
2 99154229 rs2278208 C T 432.40 PASS AB=0.452;AC=1;AF=0.50;AN=2;BaseQRankSum=0.586;DB;DP=31;Dels=0.0;FS=5.238;HRun=0;HaplotypeScore=1.7333;MQ=59.25;MQ0=0;MQRankSum=-0.879;QD=13.95;ReadPosRankSum=1.004;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INPP4A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000074304 GT:AD:DP:GQ:PL 0/1:14,17:31:99:462,0,351
2 99160508 rs3217304 GCA G 408 PASS AB=0.674;AC=1;AF=0.50;AN=2;BaseQRankSum=2.351;DB;DP=31;FS=0.0;HRun=0;HaplotypeScore=142.8624;IndelType=D;MQ=59.4;MQ0=0;MQRankSum=-0.784;QD=13.16;ReadPosRankSum=-0.784;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INPP4A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000074304 GT:AD:DP:GQ:PL 0/1:16,15:31:99:447,0,230
2 99163261 rs2278207 T A 250.70 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=2.353;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.115;QD=12.53;ReadPosRankSum=-0.124;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INPP4A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000074304 GT:AD:DP:GQ:PL 0/1:12,8:20:99:281,0,355
2 99168953 rs1181562 T C 114.58 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.92;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INPP4A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000074304 GT:AD:DP:GQ:PL 1/1:0,5:5:12.03:147,12,0
2 99172244 rs2278206 A G 716.87 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.248;DB;DP=52;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.663;MQ=58.66;MQ0=0;MQRankSum=-0.43;QD=13.79;ReadPosRankSum=-0.302;SNPEFF_AMINO_ACID_CHANGE=T599A;SNPEFF_CODON_CHANGE=Act/Gct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_99172016_99172271;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INPP4A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000409851 GT:AD:DP:GQ:PL 0/1:26,26:52:99:747,0,831
2 99193496 rs2230388 C T 561.51 PASS AB=0.543;AC=1;AF=0.50;AN=2;BaseQRankSum=1.941;DB;DP=46;Dels=0.0;FS=10.185;HRun=0;HaplotypeScore=0.0;MQ=59.4;MQ0=0;MQRankSum=-0.529;QD=12.21;ReadPosRankSum=-1.301;SNPEFF_AMINO_ACID_CHANGE=S226;SNPEFF_CODON_CHANGE=agC/agT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_99193452_99193606;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INPP4A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000409463 GT:AD:DP:GQ:PL 0/1:25,21:46:99:592,0,699
2 99204186 rs72382214 T TA 344.54 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.217;DB;DP=35;FS=0.0;HRun=8;HaplotypeScore=80.3076;IndelType=I;MQ=60.0;MQ0=0;MQRankSum=-0.857;QD=9.84;ReadPosRankSum=0.332;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INPP4A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409851 GT:AD:DP:GQ:PL 0/1:21,14:35:99:384,0,445
2 99220707 rs4851144 T C 237.38 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.133;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.8947;MQ=60.0;MQ0=0;MQRankSum=0.4;QD=13.19;ReadPosRankSum=0.222;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COA5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328709 GT:AD:DP:GQ:PL 0/1:10,8:18:99:267,0,278
2 99226021 rs3203856 C T 514.89 PASS AB=0.37;AC=1;AF=0.50;AN=2;BaseQRankSum=0.377;DB;DP=27;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.628;QD=19.07;ReadPosRankSum=0.828;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_2_99225042_99226502;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UNC50;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000409975 GT:AD:DP:GQ:PL 0/1:10,17:27:99:545,0,337
2 99226173 rs1062847 T A 1808.36 PASS AB=0.554;AC=1;AF=0.50;AN=2;BaseQRankSum=5.097;DB;DP=157;Dels=0.0;FS=5.002;HRun=3;HaplotypeScore=1.8154;MQ=60.0;MQ0=0;MQRankSum=0.454;QD=11.45;ReadPosRankSum=0.494;SNPEFF_AMINO_ACID_CHANGE=M1K;SNPEFF_CODON_CHANGE=aTg/aAg;SNPEFF_EFFECT=START_LOST;SNPEFF_EXON_ID=exon_2_99226106_99226502;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UNC50;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000409347 GT:AD:DP:GQ:PL 0/1:87,70:157:99:1838,0,2756
2 99234586 rs72320300 A AT 70.74 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=7;FS=0.0;HRun=15;HaplotypeScore=30.8262;IndelType=I;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=10.11;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MGAT4A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000393487 GT:AD:DP:GQ:PL 0/1:2,5:7:0.03:108,0,0
2 99272802 rs11679648 G A 3228.29 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.616;DB;DP=101;Dels=0.0;FS=2.834;HRun=0;HaplotypeScore=2.7298;MQ=58.85;MQ0=0;MQRankSum=1.143;QD=31.96;ReadPosRankSum=-0.188;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MGAT4A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264968 GT:AD:DP:GQ:PL 1/1:2,99:101:99:3261,199,0
2 99614566 rs143944517 G A 313.67 PASS AB=0.56;AC=1;AF=0.50;AN=2;BaseQRankSum=1.779;DB;DP=25;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.575;QD=12.55;ReadPosRankSum=-1.779;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TSGA10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000539964 GT:AD:DP:GQ:PL 0/1:14,11:25:99:344,0,458
2 99636701 rs190679885 A T 110.36 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.935;DB;DP=13;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.811;QD=8.49;ReadPosRankSum=0.312;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TSGA10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355053 GT:AD:DP:GQ:PL 0/1:6,7:13:99:140,0,214
2 99687970 rs193021959 C T 34.92 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.231;QD=6.98;ReadPosRankSum=-1.231;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TSGA10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000542655 GT:AD:DP:GQ:PL 0/1:3,2:5:64.91:65,0,112
2 99688387 rs149619654 G C 667.19 PASS AB=0.394;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.455;DB;DP=33;Dels=0.0;FS=2.945;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.571;QD=20.22;ReadPosRankSum=-0.866;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TSGA10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355053 GT:AD:DP:GQ:PL 0/1:13,20:33:99:697,0,451
2 99689562 . TA T 305.16 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=4.48;DP=35;FS=3.174;HRun=7;HaplotypeScore=83.4618;IndelType=D;MQ=61.23;MQ0=0;MQRankSum=-0.299;QD=8.72;ReadPosRankSum=-1.126;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TSGA10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355053 GT:AD:DP:GQ:PL 0/1:21,14:35:99:344,0,440
2 99695036 rs181690863 T C 201.12 PASS AB=0.357;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.933;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9947;MQ=58.45;MQ0=0;MQRankSum=0.0;QD=13.41;ReadPosRankSum=-1.067;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TSGA10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355053 GT:AD:DP:GQ:PL 0/1:5,9:15:99:231,0,171
2 99725138 rs6542863 C T 169.93 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.16;MQ0=0;QD=33.99;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TSGA10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471174 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:203,15,0
2 99725223 rs6542864 A G 338.70 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.29;MQ0=0;QD=30.79;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TSGA10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471174 GT:AD:DP:GQ:PL 1/1:0,11:11:30.09:372,30,0
2 99725479 rs11396964 A AT 1751.62 PASS AC=2;AF=1.00;AN=2;DB;DP=42;FS=0.0;HRun=1;HaplotypeScore=99.9087;IndelType=I;MQ=59.81;MQ0=0;QD=41.71;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TSGA10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471174 GT:AD:DP:GQ:PL 1/1:0,42:42:99:1794,120,0
2 99725575 rs6733285 T C 146.83 PASS AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=61.78;MQ0=0;MQRankSum=-0.736;QD=24.47;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TSGA10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471174 GT:AD:DP:GQ:PL 0/1:1,5:6:21.27:177,0,21
2 99726043 rs6733624 A G 342.51 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.06;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TSGA10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355053 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:375,27,0
2 99766927 rs75507898 C CT 91.04 PASS AB=0.73;AC=1;AF=0.50;AN=2;BaseQRankSum=1.588;DB;DP=27;FS=2.077;HRun=15;HaplotypeScore=176.7657;IndelType=I;MQ=56.44;MQ0=0;MQRankSum=-0.048;QD=3.37;ReadPosRankSum=-1.78;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000496794 GT:AD:DP:GQ:PL 0/1:14,7:27:66.57:130,0,67
2 99767073 rs139891421 G A 738.73 PASS AB=0.49;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.514;DB;DP=51;Dels=0.0;FS=2.463;HRun=1;HaplotypeScore=0.9734;MQ=59.55;MQ0=0;MQRankSum=0.254;QD=14.48;ReadPosRankSum=-0.876;SNPEFF_AMINO_ACID_CHANGE=D52N;SNPEFF_CODON_CHANGE=Gat/Aat;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_99766946_99767950;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf15;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000302513 GT:AD:DP:GQ:PL 0/1:25,26:51:99:769,0,789
2 99778985 rs2632277 T C 863.63 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.539;DB;DP=54;Dels=0.0;FS=7.811;HRun=1;HaplotypeScore=1.5362;MQ=60.0;MQ0=0;MQRankSum=-0.667;QD=15.99;ReadPosRankSum=1.005;SNPEFF_AMINO_ACID_CHANGE=L189;SNPEFF_CODON_CHANGE=Ttg/Ctg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_99778420_99779611;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LIPT1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000340066 GT:AD:DP:GQ:PL 0/1:27,27:54:99:894,0,786
2 99779131 rs2516835 T C 260.25 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.271;DB;DP=28;Dels=0.0;FS=1.619;HRun=1;HaplotypeScore=0.9958;MQ=60.0;MQ0=0;MQRankSum=-0.168;QD=9.29;ReadPosRankSum=0.599;SNPEFF_AMINO_ACID_CHANGE=A237;SNPEFF_CODON_CHANGE=gcT/gcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_99778420_99779611;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LIPT1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000340066 GT:AD:DP:GQ:PL 0/1:18,10:28:99:290,0,488
2 99802820 rs6757661 A G 270.67 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.83;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000308644 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:304,24,0
2 99804642 rs10865030 T C 457.01 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.47;SNPEFF_AMINO_ACID_CHANGE=T18;SNPEFF_CODON_CHANGE=acT/acC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_99804640_99804720;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf15;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000512183 GT:AD:DP:GQ:PL 1/1:0,15:15:39.10:490,39,0
2 99811894 rs7605843 C T 731.65 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.58;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MRPL30;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409145 GT:AD:DP:GQ:PL 1/1:0,20:20:57.18:765,57,0
2 99812070 rs1044575 G A 6109.28 PASS AC=2;AF=1.00;AN=2;DB;DP=179;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.04;MQ0=0;QD=34.13;SNPEFF_AMINO_ACID_CHANGE=A130T;SNPEFF_CODON_CHANGE=Gca/Aca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_99812036_99814089;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf15;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000512183 GT:AD:DP:GQ:PL 1/1:0,179:179:99:6109,448,0
2 99812108 rs7572157 T C 2050.69 PASS AB=0.449;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.665;DB;DP=156;Dels=0.0;FS=4.091;HRun=1;HaplotypeScore=0.9332;MQ=59.09;MQ0=0;MQRankSum=2.777;QD=13.06;ReadPosRankSum=0.444;SNPEFF_AMINO_ACID_CHANGE=T142;SNPEFF_CODON_CHANGE=acT/acC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_99812036_99814089;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf15;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000512183 GT:AD:DP:GQ:PL 0/1:70,86:156:99:2081,0,2114
2 99938301 rs13017871 C T 141.37 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=0.851;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=49.41;MQ0=1;MQRankSum=-1.668;QD=12.85;ReadPosRankSum=-1.453;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TXNDC9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409705 GT:AD:DP:GQ:PL 0/1:5,6:11:99:171,0,166
2 99943871 rs115994977 G C 79.98 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.684;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.322;QD=10.0;ReadPosRankSum=-0.322;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000424491 GT:AD:DP:GQ:PL 0/1:3,5:8:99:110,0,104
2 99944168 rs117462941 C T 332.69 PASS AB=0.605;AC=1;AF=0.50;AN=2;BaseQRankSum=0.019;DB;DP=38;Dels=0.0;FS=1.533;HRun=0;HaplotypeScore=0.9665;MQ=58.78;MQ0=0;MQRankSum=0.525;QD=8.76;ReadPosRankSum=-0.876;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000424491 GT:AD:DP:GQ:PL 0/1:23,15:38:99:363,0,580
2 99976564 rs3828162 A G 365.28 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.53;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EIF5B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289371 GT:AD:DP:GQ:PL 1/1:0,10:10:30.10:398,30,0
2 99976813 rs41280587 G A 332.64 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.736;DB;DP=20;Dels=0.0;FS=0.0;HRun=8;HaplotypeScore=1.9748;MQ=59.06;MQ0=0;MQRankSum=0.501;QD=16.63;ReadPosRankSum=-0.424;SNPEFF_AMINO_ACID_CHANGE=K50;SNPEFF_CODON_CHANGE=aaG/aaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_99976699_99976824;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EIF5B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000289371 GT:AD:DP:GQ:PL 0/1:8,12:20:99:363,0,273
2 99977196 rs150269958 G A 43.38 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=14.46;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EIF5B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289371 GT:AD:DP:GQ:PL 0/1:1,2:3:32.20:73,0,32
2 99978048 rs12233086 G A 975.07 PASS AB=0.565;AC=1;AF=0.50;AN=2;BaseQRankSum=1.712;DB;DP=85;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9988;MQ=60.0;MQ0=0;MQRankSum=-0.757;QD=11.47;ReadPosRankSum=-0.649;SNPEFF_AMINO_ACID_CHANGE=V228;SNPEFF_CODON_CHANGE=gtG/gtA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_99977611_99978283;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EIF5B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000289371 GT:AD:DP:GQ:PL 0/1:48,37:85:99:1005,0,1419
2 99980811 rs117138860 G T 2423.73 PASS AB=0.404;AC=1;AF=0.50;AN=2;BaseQRankSum=-6.45;DB;DP=147;Dels=0.0;FS=1.401;HRun=0;HaplotypeScore=1.7356;MQ=60.0;MQ0=0;MQRankSum=-1.258;QD=16.49;ReadPosRankSum=-2.984;SNPEFF_AMINO_ACID_CHANGE=G405;SNPEFF_CODON_CHANGE=ggG/ggT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_99980734_99980884;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EIF5B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000289371 GT:AD:DP:GQ:PL 0/1:59,87:147:99:2454,0,1978
2 99992822 rs7558074 A C 295.13 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.89;SNPEFF_AMINO_ACID_CHANGE=K522T;SNPEFF_CODON_CHANGE=aAa/aCa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_99992810_99993099;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EIF5B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000289371 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:328,24,0
2 99993160 rs78875872 T C 248.62 PASS AB=0.656;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.436;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.55;MQ0=0;MQRankSum=0.357;QD=7.77;ReadPosRankSum=0.555;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EIF5B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289371 GT:AD:DP:GQ:PL 0/1:21,11:32:99:279,0,706
2 99995458 . AT A 79.38 PASS AB=0.727;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.328;DP=24;FS=0.0;HRun=15;HaplotypeScore=141.1529;IndelType=D;MQ=55.1;MQ0=0;MQRankSum=-0.722;QD=3.31;ReadPosRankSum=0.919;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EIF5B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289371 GT:AD:DP:GQ:PL 0/1:13,8:24:99:118,0,210
2 99995804 rs1376443 T C 974.20 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=60.0;MQ0=0;QD=34.79;SNPEFF_AMINO_ACID_CHANGE=D658;SNPEFF_CODON_CHANGE=gaT/gaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_99995781_99995891;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EIF5B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000289371 GT:AD:DP:GQ:PL 1/1:0,28:28:78.23:1007,78,0
2 99998561 rs2290256 C T 762.83 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.33;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EIF5B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289371 GT:AD:DP:GQ:PL 1/1:0,21:21:60.20:796,60,0
2 100006061 rs3842563 G GAGTA 813.35 PASS AC=2;AF=1.00;AN=2;DB;DP=11;FS=0.0;HRun=0;HaplotypeScore=32.4989;IndelType=I;MQ=48.43;MQ0=0;QD=73.94;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EIF5B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289371 GT:AD:DP:GQ:PL 1/1:2,9:11:33.11:855,33,0
2 100006620 rs10187843 G T 1407.68 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.44;MQ0=0;QD=34.33;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EIF5B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289371 GT:AD:DP:GQ:PL 1/1:0,41:41:99:1441,114,0
2 100006890 rs35228031 G GT 501.07 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.17;DB;DP=49;FS=5.228;HRun=14;HaplotypeScore=307.1104;IndelType=I;MQ=57.48;MQ0=0;MQRankSum=1.17;QD=10.23;ReadPosRankSum=0.158;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EIF5B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289371 GT:AD:DP:GQ:PL 1/1:23,25:49:22.89:543,23,0
2 100010685 rs2242036 A G 1884.77 PASS AB=0.504;AC=1;AF=0.50;AN=2;BaseQRankSum=3.261;DB;DP=135;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=2.7896;MQ=59.83;MQ0=0;MQRankSum=0.148;QD=13.96;ReadPosRankSum=0.694;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EIF5B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470868 GT:AD:DP:GQ:PL 0/1:68,67:135:99:1915,0,1886
2 100010810 rs3197957 A G 1166.27 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.328;DB;DP=82;Dels=0.0;FS=2.167;HRun=0;HaplotypeScore=0.9916;MQ=60.0;MQ0=0;MQRankSum=-1.122;QD=14.22;ReadPosRankSum=-1.122;SNPEFF_AMINO_ACID_CHANGE=T987;SNPEFF_CODON_CHANGE=acA/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_100010730_100010861;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EIF5B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000289371 GT:AD:DP:GQ:PL 0/1:41,41:82:99:1196,0,1340
2 100019059 rs28382973 AGAC A 611.84 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=4.106;DB;DP=30;FS=1.862;HRun=0;HaplotypeScore=119.1272;IndelType=D;MQ=58.4;MQ0=0;MQRankSum=0.124;QD=20.39;ReadPosRankSum=-1.41;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EIF5B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289371 GT:AD:DP:GQ:PL 0/1:15,15:30:99:651,0,909
2 100019496 rs2305354 A G 1820.66 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.6;MQ0=0;QD=31.94;SNPEFF_AMINO_ACID_CHANGE=I1079;SNPEFF_CODON_CHANGE=atT/atC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_100019352_100019569;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=REV1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000393445 GT:AD:DP:GQ:PL 1/1:0,56:56:99:1854,135,0
2 100020742 rs6711073 G A 40.43 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.358;QD=8.09;ReadPosRankSum=-1.231;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EIF5B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289371 GT:AD:DP:GQ:PL 0/1:2,3:5:61.92:70,0,62
2 100021184 rs2290261 A G 136.48 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.387;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.031;QD=12.41;ReadPosRankSum=-0.825;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EIF5B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289371 GT:AD:DP:GQ:PL 0/1:6,5:11:99:166,0,210
2 100022270 rs1053544 G A 30.40 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.38;QD=5.07;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=REV1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472000 GT:AD:DP:GQ:PL 0/1:4,2:6:60.39:60,0,130
2 100022617 rs13394927 G A 193.36 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.545;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.663;QD=13.81;ReadPosRankSum=-0.299;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=REV1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258428 GT:AD:DP:GQ:PL 0/1:7,7:14:99:223,0,239
2 100022772 rs717454 T C 754.49 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.307;DB;DP=64;Dels=0.0;FS=1.002;HRun=0;HaplotypeScore=3.2927;MQ=60.0;MQ0=0;MQRankSum=-0.436;QD=11.79;ReadPosRankSum=-0.754;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=REV1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258428 GT:AD:DP:GQ:PL 0/1:36,28:64:99:784,0,1097
2 100024771 rs28382959 C T 35.30 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=7.06;ReadPosRankSum=1.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=REV1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258428 GT:AD:DP:GQ:PL 0/1:3,2:5:65.29:65,0,108
2 100027104 rs142397096 C T 576.39 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=1.364;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.286;QD=16.01;ReadPosRankSum=1.936;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=REV1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258428 GT:AD:DP:GQ:PL 0/1:15,21:36:99:606,0,482
2 100029106 rs2242037 T C 298.77 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.2;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=REV1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258428 GT:AD:DP:GQ:PL 1/1:0,9:9:24.08:332,24,0
2 100029133 rs80261526 G C 216.48 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=0.868;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9832;MQ=60.0;MQ0=0;MQRankSum=1.099;QD=14.43;ReadPosRankSum=0.289;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=REV1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258428 GT:AD:DP:GQ:PL 0/1:8,7:15:99:246,0,286
2 100035441 . TCA T 965.77 PASS AB=0.658;AC=1;AF=0.50;AN=2;BaseQRankSum=3.88;DP=50;FS=1.628;HRun=0;HaplotypeScore=179.403;IndelType=D;MQ=58.13;MQ0=0;MQRankSum=-0.134;QD=19.32;ReadPosRankSum=1.769;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=REV1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258428 GT:AD:DP:GQ:PL 0/1:24,26:50:99:1005,0,1093
2 100055506 rs3087386 A G 1200.55 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9734;MQ=59.32;MQ0=0;QD=35.31;SNPEFF_AMINO_ACID_CHANGE=F257S;SNPEFF_CODON_CHANGE=tTt/tCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_100055063_100055772;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=REV1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000258428 GT:AD:DP:GQ:PL 1/1:0,34:34:96.31:1234,96,0
2 100078702 . T C 51.64 PASS AC=2;AF=1.00;AN=2;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.82;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=REV1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258428 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:83,6,0
2 100081317 rs28369944 T C 1063.14 PASS AB=0.379;AC=1;AF=0.50;AN=2;BaseQRankSum=1.418;DB;DP=59;Dels=0.0;FS=2.888;HRun=0;HaplotypeScore=1.8666;MQ=58.82;MQ0=0;MQRankSum=-0.172;QD=18.02;ReadPosRankSum=0.615;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=REV1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258428 GT:AD:DP:GQ:PL 0/1:22,36:59:99:1093,0,745
2 100081323 rs28369943 C T 2284.68 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.917;DB;DP=69;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9999;MQ=58.31;MQ0=0;MQRankSum=0.306;QD=33.11;ReadPosRankSum=0.153;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=REV1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258428 GT:AD:DP:GQ:PL 1/1:1,68:69:99:2318,135,0
2 100081561 rs28369942 A AAAGTC 1418.08 PASS AC=2;AF=1.00;AN=2;DB;DP=18;FS=0.0;HRun=0;HaplotypeScore=66.424;IndelType=I;MQ=53.82;MQ0=0;QD=78.78;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=REV1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258428 GT:AD:DP:GQ:PL 1/1:2,15:18:51.17:1460,51,0
2 100171382 rs11893480 G A 89.90 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.97;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AFF3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317233 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:122,9,0
2 100210334 . CG C 214.47 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=3.281;DP=16;FS=0.0;HRun=2;HaplotypeScore=133.0689;IndelType=D;MQ=43.69;MQ0=0;MQRankSum=-2.858;QD=13.4;ReadPosRankSum=0.212;SNPEFF_EFFECT=FRAME_SHIFT;SNPEFF_EXON_ID=exon_2_100209657_100210751;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AFF3;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000317233 GT:AD:DP:GQ:PL 0/1:8,8:16:99:253,0,240
2 100210337 . CTGAGG C 471.29 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=3.281;DP=16;FS=0.0;HRun=0;HaplotypeScore=138.3523;IndelType=D;MQ=43.69;MQ0=0;MQRankSum=-2.858;QD=29.46;ReadPosRankSum=0.212;SNPEFF_EFFECT=FRAME_SHIFT;SNPEFF_EXON_ID=exon_2_100209657_100210751;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AFF3;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000317233 GT:AD:DP:GQ:PL 0/1:8,8:16:99:510,0,627
2 100288931 rs4851222 G A 1570.20 PASS AB=0.461;AC=1;AF=0.50;AN=2;BaseQRankSum=5.49;DB;DP=102;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=59.77;MQ0=0;MQRankSum=0.13;QD=15.39;ReadPosRankSum=0.032;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AFF3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317233 GT:AD:DP:GQ:PL 0/1:47,55:102:99:1600,0,1207
2 100343557 rs4851223 C T 1003 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.35;SNPEFF_AMINO_ACID_CHANGE=S358N;SNPEFF_CODON_CHANGE=aGt/aAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_100343539_100343590;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AFF3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000317233 GT:AD:DP:GQ:PL 1/1:0,31:31:75.24:1036,75,0
2 100454072 rs5832886 C CT 489.51 PASS AC=2;AF=1.00;AN=2;DB;DP=12;FS=0.0;HRun=0;HaplotypeScore=23.9853;IndelType=I;MQ=60.9;MQ0=0;QD=40.79;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AFF3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317233 GT:AD:DP:GQ:PL 1/1:0,12:12:36.12:532,36,0
2 100906570 . A AAAAT 363.07 PASS AC=2;AF=1.00;AN=2;DP=7;FS=0.0;HRun=0;HaplotypeScore=25.132;IndelType=I;MQ=61.34;MQ0=0;QD=51.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LONRF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000393437 GT:AD:DP:GQ:PL 1/1:1,3:7:21.07:405,21,0
2 100915629 rs4851286 T C 517.18 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.6281;MQ=60.0;MQ0=0;QD=34.48;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LONRF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000393437 GT:AD:DP:GQ:PL 1/1:0,15:15:42.12:550,42,0
2 100915772 rs4851287 A G 1074.99 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.58;SNPEFF_AMINO_ACID_CHANGE=L183P;SNPEFF_CODON_CHANGE=cTt/cCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_100915688_100915781;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LONRF2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000409647 GT:AD:DP:GQ:PL 1/1:0,33:33:84.27:1108,84,0
2 100916051 rs2033749 T C 477.10 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.08;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LONRF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000393437 GT:AD:DP:GQ:PL 1/1:0,14:14:39.13:510,39,0
2 100916306 rs2033748 A G 2032.73 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.6828;MQ=59.25;MQ0=0;QD=32.79;SNPEFF_AMINO_ACID_CHANGE=F137;SNPEFF_CODON_CHANGE=ttT/ttC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_100916179_100916380;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LONRF2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000409647 GT:AD:DP:GQ:PL 1/1:0,62:62:99:2066,160,0
2 100916315 rs11123823 A G 1983.14 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.6;MQ0=0;QD=34.79;SNPEFF_AMINO_ACID_CHANGE=G134;SNPEFF_CODON_CHANGE=ggT/ggC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_100916179_100916380;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LONRF2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000409647 GT:AD:DP:GQ:PL 1/1:0,57:57:99:2016,153,0
2 100916481 rs80032106 A AGG 242.49 PASS AC=2;AF=1.00;AN=2;DB;DP=10;FS=0.0;HRun=8;HaplotypeScore=35.0938;IndelType=I;MQ=60.0;MQ0=0;QD=24.25;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LONRF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000393437 GT:AD:DP:GQ:PL 1/1:4,6:10:18.06:284,18,0
2 100917109 rs13006224 C T 2003.60 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.32;SNPEFF_AMINO_ACID_CHANGE=S111;SNPEFF_CODON_CHANGE=tcG/tcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_100917106_100917249;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LONRF2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000409647 GT:AD:DP:GQ:PL 1/1:0,62:62:99:2037,150,0
2 100925340 rs13001423 A G 116.08 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.02;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LONRF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000393437 GT:AD:DP:GQ:PL 1/1:0,4:4:12.03:149,12,0
2 100925399 rs11689439 T C 470.14 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.16;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LONRF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000393437 GT:AD:DP:GQ:PL 1/1:0,13:13:39.13:503,39,0
2 100925439 rs11693424 G A 774.55 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.84;MQ0=0;QD=38.73;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LONRF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000393437 GT:AD:DP:GQ:PL 1/1:0,20:20:60.19:808,60,0
2 100925803 rs10195793 A G 380.51 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.05;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LONRF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000393437 GT:AD:DP:GQ:PL 1/1:0,10:10:30.10:414,30,0
2 100938328 rs74177695 T C 72.30 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.1;SNPEFF_AMINO_ACID_CHANGE=E76;SNPEFF_CODON_CHANGE=gaA/gaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_100937877_100939195;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LONRF2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000393437 GT:AD:DP:GQ:PL 1/1:0,3:3:9.01:104,9,0
2 101009600 rs1530030 G A 661.71 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.09;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHST10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409046 GT:AD:DP:GQ:PL 1/1:0,20:20:57.12:695,57,0
2 101010082 rs3748930 G C 3899.17 PASS AC=2;AF=1.00;AN=2;DB;DP=128;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.64;MQ0=0;QD=30.46;SNPEFF_AMINO_ACID_CHANGE=T232;SNPEFF_CODON_CHANGE=acC/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_101008327_101010244;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHST10;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000264249 GT:AD:DP:GQ:PL 1/1:0,128:128:99:3899,307,0
2 101011877 rs2241810 T C 375.30 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.53;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHST10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409046 GT:AD:DP:GQ:PL 1/1:0,10:10:30.10:408,30,0
2 101014247 rs4149517 C A 213.43 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.57;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHST10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409046 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:246,18,0
2 101014363 rs2241809 C T 1020.09 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9578;MQ=59.25;MQ0=0;QD=32.91;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHST10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409046 GT:AD:DP:GQ:PL 1/1:0,31:31:81.21:1053,81,0
2 101022886 rs4149512 C T 1290.81 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.88;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHST10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000435960 GT:AD:DP:GQ:PL 1/1:0,35:35:99:1324,102,0
2 101031561 rs3828193 G T 452.82 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.34;SNPEFF_AMINO_ACID_CHANGE=N18K;SNPEFF_CODON_CHANGE=aaC/aaA;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_101031503_101031573;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHST10;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000448989 GT:AD:DP:GQ:PL 1/1:0,14:14:39.12:486,39,0
2 101126124 rs1829479 T A 528.71 PASS AB=0.513;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.149;DB;DP=39;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9159;MQ=60.0;MQ0=0;MQRankSum=0.183;QD=13.56;ReadPosRankSum=-0.267;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=AC068538.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000376856 GT:AD:DP:GQ:PL 0/1:20,19:39:99:559,0,687
2 101521173 rs5832942 AT A 329.78 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.248;DB;DP=36;FS=6.69;HRun=17;HaplotypeScore=202.2067;IndelType=D;MQ=56.53;MQ0=1;MQRankSum=-0.867;QD=8.91;ReadPosRankSum=0.495;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NPAS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000335681 GT:AD:DP:GQ:PL 1/1:9,23:36:53.35:372,53,0
2 101541798 rs356651 C T 343.40 PASS AB=0.48;AC=1;AF=0.50;AN=2;BaseQRankSum=2.856;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.8318;MQ=60.0;MQ0=0;MQRankSum=-1.061;QD=13.74;ReadPosRankSum=-0.626;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NPAS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000335681 GT:AD:DP:GQ:PL 0/1:12,13:25:99:373,0,367
2 101564628 rs10207725 A G 724.62 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.194;DB;DP=51;Dels=0.0;FS=1.567;HRun=0;HaplotypeScore=1.6828;MQ=60.0;MQ0=0;MQRankSum=-1.155;QD=14.21;ReadPosRankSum=-0.67;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NPAS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000335681 GT:AD:DP:GQ:PL 0/1:24,27:51:99:755,0,768
2 101581246 rs7581886 C T 315.11 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.66;MQ0=0;QD=31.51;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NPAS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000486017 GT:AD:DP:GQ:PL 1/1:0,10:10:27.08:348,27,0
2 101587455 rs1562313 C T 526.93 PASS AB=0.535;AC=1;AF=0.50;AN=2;BaseQRankSum=0.248;DB;DP=43;Dels=0.0;FS=7.314;HRun=0;HaplotypeScore=0.0;MQ=58.92;MQ0=0;MQRankSum=-0.379;QD=12.25;ReadPosRankSum=-1.111;SNPEFF_AMINO_ACID_CHANGE=Y353;SNPEFF_CODON_CHANGE=taC/taT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_101587452_101587536;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NPAS2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000335681 GT:AD:DP:GQ:PL 0/1:23,20:43:99:557,0,675
2 101591304 rs2305160 A G 536.82 PASS AB=0.476;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.621;DB;DP=42;Dels=0.0;FS=4.417;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.326;QD=12.78;ReadPosRankSum=0.509;SNPEFF_AMINO_ACID_CHANGE=T394A;SNPEFF_CODON_CHANGE=Aca/Gca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_101591265_101591406;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NPAS2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000335681 GT:AD:DP:GQ:PL 0/1:20,22:42:99:567,0,642
2 101591443 rs2305159 A C 162.96 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=0.116;DB;DP=20;Dels=0.0;FS=8.316;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.504;QD=8.15;ReadPosRankSum=-0.733;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NPAS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000335681 GT:AD:DP:GQ:PL 0/1:12,8:20:99:193,0,419
2 101594454 rs9679638 T C 39.05 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=19.53;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NPAS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000335681 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:70,6,0
2 101598677 rs2278727 C T 169.87 PASS AB=0.633;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.033;DB;DP=30;Dels=0.0;FS=5.721;HRun=5;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.258;QD=5.66;ReadPosRankSum=-1.076;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NPAS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000335681 GT:AD:DP:GQ:PL 0/1:19,11:30:99:200,0,658
2 101606511 rs6726870 A G 76.73 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=15.35;ReadPosRankSum=0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NPAS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000335681 GT:AD:DP:GQ:PL 0/1:2,3:5:64.76:107,0,65
2 101609827 rs9223 C T 733.89 PASS AB=0.508;AC=1;AF=0.50;AN=2;BaseQRankSum=1.767;DB;DP=63;Dels=0.0;FS=2.095;HRun=0;HaplotypeScore=3.9696;MQ=59.27;MQ0=0;MQRankSum=-0.392;QD=11.65;ReadPosRankSum=0.296;SNPEFF_AMINO_ACID_CHANGE=R149C;SNPEFF_CODON_CHANGE=Cgt/Tgt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_101609809_101609989;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NPAS2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000450763 GT:AD:DP:GQ:PL 0/1:32,31:63:99:764,0,933
2 101619283 rs2278724 C G 852.10 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.6498;MQ=58.61;MQ0=0;QD=31.56;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TBC1D8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000376840 GT:AD:DP:GQ:PL 1/1:0,26:27:69.20:885,69,0
2 101619321 rs2278723 T C 468.18 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=1.05;DB;DP=20;Dels=0.0;FS=6.767;HRun=0;HaplotypeScore=0.0;MQ=59.06;MQ0=0;MQRankSum=1.55;QD=23.41;ReadPosRankSum=-0.75;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TBC1D8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000376840 GT:AD:DP:GQ:PL 0/1:5,15:20:90.27:498,0,90
2 101620990 rs2278721 G C 50.63 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.32;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TBC1D8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000376840 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
2 101622728 rs10934 C T 255.20 PASS AB=0.412;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.317;DB;DP=17;Dels=0.0;FS=4.752;HRun=0;HaplotypeScore=0.9999;MQ=60.0;MQ0=0;MQRankSum=-0.537;QD=15.01;ReadPosRankSum=-1.415;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RPL31;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409000 GT:AD:DP:GQ:PL 0/1:7,10:17:99:285,0,196
2 101624471 rs746924 T C 1099.82 PASS AB=0.565;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.594;DB;DP=108;Dels=0.0;FS=5.209;HRun=3;HaplotypeScore=3.7786;MQ=59.79;MQ0=0;MQRankSum=0.539;QD=10.18;ReadPosRankSum=0.281;SNPEFF_AMINO_ACID_CHANGE=R1079G;SNPEFF_CODON_CHANGE=Agg/Ggg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_101624079_101624735;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TBC1D8;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000376840 GT:AD:DP:GQ:PL 0/1:61,47:108:99:1130,0,2007
2 101635538 rs13007048 C T 355.45 PASS AB=0.478;AC=1;AF=0.50;AN=2;BaseQRankSum=1.939;DB;DP=23;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.462;QD=15.45;ReadPosRankSum=1.569;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RPL31;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409038 GT:AD:DP:GQ:PL 0/1:11,12:23:99:385,0,279
2 101638888 rs3739014 A G 353.39 PASS AB=0.632;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.557;DB;DP=39;Dels=0.0;FS=1.45;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=1.437;QD=9.06;ReadPosRankSum=1.558;SNPEFF_AMINO_ACID_CHANGE=D857;SNPEFF_CODON_CHANGE=gaT/gaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_101638743_101638983;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TBC1D8;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000376840 GT:AD:DP:GQ:PL 0/1:24,14:39:99:383,0,831
2 101644855 rs11683877 G A 357.12 PASS AB=0.65;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.039;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7987;MQ=59.42;MQ0=0;MQRankSum=1.713;QD=8.93;ReadPosRankSum=1.303;SNPEFF_AMINO_ACID_CHANGE=P739;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_101644765_101644894;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TBC1D8;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000376840 GT:AD:DP:GQ:PL 0/1:26,14:40:99:387,0,831
2 101646359 rs12472882 G C 266.94 PASS AB=0.273;AC=1;AF=0.50;AN=2;BaseQRankSum=0.382;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9958;MQ=60.0;MQ0=0;MQRankSum=0.382;QD=24.27;ReadPosRankSum=0.715;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TBC1D8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000376840 GT:AD:DP:GQ:PL 0/1:3,8:11:92.11:297,0,92
2 101652732 rs4850957 C T 703.24 PASS AB=0.579;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.253;DB;DP=58;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.6208;MQ=59.2;MQ0=0;MQRankSum=-1.495;QD=12.12;ReadPosRankSum=-1.608;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TBC1D8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000376840 GT:AD:DP:GQ:PL 0/1:33,24:58:99:733,0,1100
2 101652733 rs6705837 G A 1044.27 PASS AB=0.439;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.185;DB;DP=57;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.6208;MQ=59.19;MQ0=0;MQRankSum=0.137;QD=18.32;ReadPosRankSum=1.841;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TBC1D8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000376840 GT:AD:DP:GQ:PL 0/1:25,32:57:99:1074,0,783
2 101652797 rs6543005 T C 463.68 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.28;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TBC1D8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000376840 GT:AD:DP:GQ:PL 1/1:0,17:17:42.12:497,42,0
2 101652916 rs6706075 G A 82.69 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=51.77;MQ0=0;QD=27.56;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TBC1D8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000376840 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:115,9,0
2 101656726 rs2289953 T C 1063.82 PASS AB=0.519;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.045;DB;DP=81;Dels=0.0;FS=0.88;HRun=0;HaplotypeScore=2.792;MQ=59.72;MQ0=0;MQRankSum=-0.809;QD=13.13;ReadPosRankSum=-0.26;SNPEFF_AMINO_ACID_CHANGE=T317A;SNPEFF_CODON_CHANGE=Acg/Gcg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_101656640_101656847;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TBC1D8;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000376840 GT:AD:DP:GQ:PL 0/1:42,39:81:99:1094,0,1253
2 101675808 rs7572457 A G 518.53 PASS AB=0.553;AC=1;AF=0.50;AN=2;BaseQRankSum=0.35;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7882;MQ=59.39;MQ0=0;MQRankSum=1.021;QD=13.65;ReadPosRankSum=1.874;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TBC1D8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000487392 GT:AD:DP:GQ:PL 0/1:21,17:38:99:549,0,673
2 101869588 rs2272320 G T 84.04 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.684;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=53.36;MQ0=0;MQRankSum=0.322;QD=7.64;ReadPosRankSum=-0.322;SNPEFF_AMINO_ACID_CHANGE=P54;SNPEFF_CODON_CHANGE=ccG/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_101869264_101869940;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf29;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000289382 GT:AD:DP:GQ:PL 0/1:5,5:11:76.22:114,0,76
2 101874442 rs6757365 C T 238.49 PASS AB=0.606;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.302;DB;DP=33;Dels=0.0;FS=1.573;HRun=0;HaplotypeScore=4.523;MQ=60.0;MQ0=0;MQRankSum=-0.307;QD=7.23;ReadPosRankSum=-0.767;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf29;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289382 GT:AD:DP:GQ:PL 0/1:20,13:33:99:268,0,668
2 101881549 rs3768995 A T 57.71 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.988;DB;DP=6;Dels=0.0;FS=0.0;HRun=9;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=9.62;ReadPosRankSum=0.406;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf29;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289382 GT:AD:DP:GQ:PL 0/1:3,3:6:87.70:88,0,104
2 101889306 rs750783 A G 78 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.071;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.33;MQ0=0;MQRankSum=-0.354;QD=5.57;ReadPosRankSum=0.212;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf29;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289382 GT:AD:DP:GQ:PL 0/1:10,4:14:99:108,0,363
2 101898412 rs13151 G C 1315.80 PASS AB=0.457;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.291;DB;DP=81;Dels=0.0;FS=5.833;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.262;QD=16.24;ReadPosRankSum=-0.015;SNPEFF_AMINO_ACID_CHANGE=D356E;SNPEFF_CODON_CHANGE=gaC/gaG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_101898321_101898519;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RNF149;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000295317 GT:AD:DP:GQ:PL 0/1:37,44:81:99:1346,0,1089
2 101911385 rs3828194 A G 837.07 PASS AB=0.407;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.195;DB;DP=54;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.31;MQ0=0;MQRankSum=-0.731;QD=15.5;ReadPosRankSum=0.132;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RNF149;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295317 GT:AD:DP:GQ:PL 0/1:22,32:54:99:867,0,663
2 101967346 rs6543032 C T 649.51 PASS AB=0.479;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.462;DB;DP=48;Dels=0.0;FS=5.684;HRun=4;HaplotypeScore=0.7887;MQ=59.52;MQ0=0;MQRankSum=0.096;QD=13.53;ReadPosRankSum=-1.034;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RFX8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000540519 GT:AD:DP:GQ:PL 0/1:23,25:48:99:680,0,680
2 102000210 rs11694978 G A 500.28 PASS AB=0.355;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.078;DB;DP=31;Dels=0.0;FS=1.987;HRun=1;HaplotypeScore=0.0;MQ=59.4;MQ0=0;MQRankSum=0.946;QD=16.14;ReadPosRankSum=-2.222;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CREG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000324768 GT:AD:DP:GQ:PL 0/1:11,20:31:99:530,0,316
2 102018878 rs11123876 G A 106.98 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.676;DB;DP=10;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.453;QD=10.7;ReadPosRankSum=-0.676;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RFX8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000376826 GT:AD:DP:GQ:PL 0/1:5,5:10:99:137,0,163
2 102029273 rs11689348 T C 113.67 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.38;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=16.24;ReadPosRankSum=-0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RFX8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000376826 GT:AD:DP:GQ:PL 0/1:2,5:7:65.46:144,0,65
2 102029548 rs1554070 G A 455.73 PASS AB=0.581;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.8;DB;DP=43;Dels=0.0;FS=4.336;HRun=1;HaplotypeScore=0.0;MQ=59.46;MQ0=0;MQRankSum=-1.292;QD=10.6;ReadPosRankSum=1.933;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RFX8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000376826 GT:AD:DP:GQ:PL 0/1:25,18:43:99:486,0,768
2 102029646 rs12620464 T C 325.20 PASS AB=0.316;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.587;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.044;QD=17.12;ReadPosRankSum=-0.395;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RFX8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000376826 GT:AD:DP:GQ:PL 0/1:6,13:19:99:355,0,183
2 102031176 rs4851434 A G 281.58 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.2;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RFX8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000376826 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:315,24,0
2 102031489 rs4851435 C G 422.40 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=2.752;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.231;QD=16.25;ReadPosRankSum=-0.437;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RFX8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000376826 GT:AD:DP:GQ:PL 0/1:12,14:26:99:452,0,376
2 102033851 rs11397297 T TA 511.94 PASS AC=2;AF=1.00;AN=2;DB;DP=12;FS=0.0;HRun=0;HaplotypeScore=82.9837;IndelType=I;MQ=57.0;MQ0=0;QD=42.66;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RFX8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484091 GT:AD:DP:GQ:PL 1/1:1,11:12:36.11:554,36,0
2 102033867 rs6761866 T C 531.10 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.61;MQ0=0;QD=35.41;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RFX8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484091 GT:AD:DP:GQ:PL 1/1:0,15:15:42.14:564,42,0
2 102035192 rs6709913 C T 224.20 PASS AB=0.579;AC=1;AF=0.50;AN=2;BaseQRankSum=0.041;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.032;QD=11.8;ReadPosRankSum=1.528;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RFX8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484091 GT:AD:DP:GQ:PL 0/1:11,8:19:99:254,0,398
2 102038849 rs4851436 T A 4498.14 PASS AC=2;AF=1.00;AN=2;DB;DP=124;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.81;MQ0=0;QD=36.28;SNPEFF_AMINO_ACID_CHANGE=Q166L;SNPEFF_CODON_CHANGE=cAg/cTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_102038824_102038934;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RFX8;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000376826 GT:AD:DP:GQ:PL 1/1:0,124:124:99:4498,325,0
2 102038927 . T A 1057.88 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.447;DP=70;Dels=0.0;FS=18.223;HRun=1;HaplotypeScore=0.9989;MQ=59.4;MQ0=0;MQRankSum=-0.153;QD=15.11;ReadPosRankSum=0.871;SNPEFF_AMINO_ACID_CHANGE=D140V;SNPEFF_CODON_CHANGE=gAt/gTt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_102038824_102038934;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RFX8;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000376826 GT:AD:DP:GQ:PL 0/1:33,37:70:99:1088,0,1113
2 102039131 rs6543043 A G 48.72 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=16.24;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RFX8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000376826 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:80,6,0
2 102083183 rs4851455 T C 674.90 PASS AB=0.39;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.361;DB;DP=41;Dels=0.0;FS=3.491;HRun=1;HaplotypeScore=0.9958;MQ=60.0;MQ0=0;MQRankSum=-1.216;QD=16.46;ReadPosRankSum=0.494;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RFX8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000376826 GT:AD:DP:GQ:PL 0/1:16,25:41:99:705,0,562
2 102083393 rs11680478 T C 195.28 PASS AB=0.652;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.239;DB;DP=23;Dels=0.0;FS=2.126;HRun=0;HaplotypeScore=0.9983;MQ=60.0;MQ0=0;MQRankSum=-0.99;QD=8.49;ReadPosRankSum=0.717;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RFX8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000376826 GT:AD:DP:GQ:PL 0/1:15,8:23:99:225,0,475
2 102091075 rs6742474 G A 237.16 PASS AB=0.679;AC=1;AF=0.50;AN=2;BaseQRankSum=0.334;DB;DP=28;Dels=0.0;FS=1.775;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.231;QD=8.47;ReadPosRankSum=0.591;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RFX8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000428343 GT:AD:DP:GQ:PL 0/1:19,9:28:99:267,0,483
2 102091220 rs4851457 C T 76.26 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.72;QD=12.71;ReadPosRankSum=-1.38;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RFX8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000376826 GT:AD:DP:GQ:PL 0/1:2,4:6:56.28:106,0,56
2 102314387 . C G 65.84 PASS AB=0.611;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.065;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.25;MQ0=0;MQRankSum=-0.854;QD=3.47;ReadPosRankSum=-0.754;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAP4K4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427603 GT:AD:DP:GQ:PL 0/1:11,7:19:95.83:96,0,394
2 102314437 rs13430711 T C 619.11 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.082;DB;DP=42;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=53.64;MQ0=0;MQRankSum=1.97;QD=14.74;ReadPosRankSum=-0.657;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAP4K4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427603 GT:AD:DP:GQ:PL 0/1:18,24:42:99:649,0,481
2 102314648 . G GGCAGCCT 2059.74 PASS AB=0.765;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.932;DP=39;FS=0.0;HRun=0;HaplotypeScore=257.8502;IndelType=I;MQ=47.12;MQ0=0;MQRankSum=-4.863;QD=52.81;ReadPosRankSum=1.111;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAP4K4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302217 GT:AD:DP:GQ:PL 0/1:27,11:39:99:2099,0,908
2 102315057 rs1567385 A G 1176.72 PASS AB=0.478;AC=1;AF=0.50;AN=2;BaseQRankSum=3.433;DB;DP=92;Dels=0.0;FS=4.125;HRun=5;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=0.808;QD=12.79;ReadPosRankSum=-0.218;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAP4K4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302217 GT:AD:DP:GQ:PL 0/1:44,48:92:99:1207,0,1335
2 102459268 rs17801985 A G 34.74 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=6.95;ReadPosRankSum=-0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAP4K4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302217 GT:AD:DP:GQ:PL 0/1:2,3:5:64.74:65,0,70
2 102483883 rs17745869 T G 534.31 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.933;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.186;QD=14.84;ReadPosRankSum=1.693;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAP4K4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418101 GT:AD:DP:GQ:PL 0/1:18,18:36:99:564,0,649
2 102501891 rs57584884 A G 153.14 PASS AB=0.632;AC=1;AF=0.50;AN=2;BaseQRankSum=1.056;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.211;QD=8.06;ReadPosRankSum=-0.042;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAP4K4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302217 GT:AD:DP:GQ:PL 0/1:12,7:19:99:183,0,402
2 102640871 rs3218974 A G 211.48 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=0.715;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=0.865;QD=15.11;ReadPosRankSum=0.193;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL1R2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000457817 GT:AD:DP:GQ:PL 0/1:6,8:14:99:241,0,202
2 102774054 rs2287047 G A 43.97 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=14.66;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL1R1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233946 GT:AD:DP:GQ:PL 0/1:1,2:3:33.20:74,0,33
2 102781649 rs2228139 C G 434.13 HaplotypeScoreFilter13 AB=0.576;AC=1;AF=0.50;AN=2;BaseQRankSum=1.007;DB;DP=50;Dels=0.0;FS=6.236;HRun=1;HaplotypeScore=21.7594;MQ=52.13;MQ0=0;MQRankSum=-0.323;QD=8.68;ReadPosRankSum=3.02;SNPEFF_AMINO_ACID_CHANGE=A124G;SNPEFF_CODON_CHANGE=gCa/gGa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_102781575_102781764;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL1R1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000233946 GT:AD:DP:GQ:PL 0/1:19,14:50:99:464,0,579
2 102781911 rs3917289 G T 110.53 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=56.16;MQ0=0;MQRankSum=-0.731;QD=22.11;ReadPosRankSum=0.731;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL1R1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000442590 GT:AD:DP:GQ:PL 0/1:1,4:5:25.60:141,0,26
2 102785158 rs55639750 GT G 311.75 PASS AB=0.708;AC=1;AF=0.50;AN=2;BaseQRankSum=2.302;DB;DP=51;FS=3.233;HRun=12;HaplotypeScore=170.9904;IndelType=D;MQ=59.74;MQ0=0;MQRankSum=-0.081;QD=6.11;ReadPosRankSum=0.867;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL1R1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000430171 GT:AD:DP:GQ:PL 0/1:30,21:51:99:351,0,457
2 102788409 rs2041747 G A 1010.05 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=54.56;MQ0=0;QD=32.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL1R1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233946 GT:AD:DP:GQ:PL 1/1:0,31:31:81.23:1043,81,0
2 102804041 rs2241131 C A 51.16 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL1RL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264257 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
2 102817954 rs2302623 A T 163.68 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=1.555;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.45;MQ0=0;MQRankSum=0.0;QD=10.91;ReadPosRankSum=-0.34;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL1RL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264257 GT:AD:DP:GQ:PL 0/1:7,8:15:99:194,0,226
2 102828817 rs1922291 A G 49.09 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=16.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL1RL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264257 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:80,6,0
2 102851243 rs6742931 C T 131.53 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.387;DB;DP=11;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9999;MQ=60.0;MQ0=0;MQRankSum=0.825;QD=11.96;ReadPosRankSum=-0.466;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL1RL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264257 GT:AD:DP:GQ:PL 0/1:5,6:11:99:162,0,164
2 102851837 rs4851561 G A 72.55 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=18.14;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL1RL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264257 GT:AD:DP:GQ:PL 0/1:1,3:4:24.09:103,0,24
2 102959646 rs62152661 A G 787.82 PASS AB=0.606;AC=1;AF=0.50;AN=2;BaseQRankSum=2.671;DB;DP=66;Dels=0.0;FS=13.778;HRun=0;HaplotypeScore=0.8941;MQ=59.3;MQ0=0;MQRankSum=-0.649;QD=11.94;ReadPosRankSum=3.033;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL1RL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000393393 GT:AD:DP:GQ:PL 0/1:40,26:66:99:818,0,1309
2 102967928 rs4988955 A G 201.30 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.529;DB;DP=12;Dels=0.0;FS=3.802;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.689;QD=16.77;ReadPosRankSum=0.529;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL18R1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000410040 GT:AD:DP:GQ:PL 0/1:5,7:12:99:231,0,173
2 102968007 rs4988956 G A 591.75 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.357;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.8519;MQ=59.36;MQ0=0;MQRankSum=-0.459;QD=16.44;ReadPosRankSum=0.301;SNPEFF_AMINO_ACID_CHANGE=A433T;SNPEFF_CODON_CHANGE=Gca/Aca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_102967996_102968497;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL1RL1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000233954 GT:AD:DP:GQ:PL 0/1:18,18:36:99:622,0,601
2 102968075 rs4988957 T C 518.81 PASS AB=0.537;AC=1;AF=0.50;AN=2;BaseQRankSum=2.131;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=59.44;MQ0=0;MQRankSum=0.954;QD=12.65;ReadPosRankSum=0.876;SNPEFF_AMINO_ACID_CHANGE=N455;SNPEFF_CODON_CHANGE=aaT/aaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_102967996_102968497;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL1RL1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000233954 GT:AD:DP:GQ:PL 0/1:22,19:41:99:549,0,670
2 102968285 rs4988958 T C 717.30 PASS AB=0.576;AC=1;AF=0.50;AN=2;BaseQRankSum=1.225;DB;DP=59;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9894;MQ=59.61;MQ0=0;MQRankSum=-0.518;QD=12.16;ReadPosRankSum=0.283;SNPEFF_AMINO_ACID_CHANGE=S525;SNPEFF_CODON_CHANGE=tcT/tcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_102967996_102968497;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL1RL1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000233954 GT:AD:DP:GQ:PL 0/1:34,25:59:99:747,0,1014
2 102968356 rs10192157 C T 804.07 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=1.458;DB;DP=66;Dels=0.0;FS=4.856;HRun=1;HaplotypeScore=0.734;MQ=59.72;MQ0=0;MQRankSum=0.864;QD=12.18;ReadPosRankSum=0.455;SNPEFF_AMINO_ACID_CHANGE=T549I;SNPEFF_CODON_CHANGE=aCt/aTt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_102967996_102968497;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL1RL1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000233954 GT:AD:DP:GQ:PL 0/1:36,30:66:99:834,0,1064
2 102968362 rs10206753 T C 658.98 PASS AB=0.554;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.333;DB;DP=66;Dels=0.0;FS=5.128;HRun=0;HaplotypeScore=1.4679;MQ=59.72;MQ0=0;MQRankSum=2.091;QD=9.98;ReadPosRankSum=0.101;SNPEFF_AMINO_ACID_CHANGE=L551S;SNPEFF_CODON_CHANGE=tTg/tCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_102967996_102968497;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL1RL1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000233954 GT:AD:DP:GQ:PL 0/1:36,29:66:99:689,0,1064
2 102984624 rs1362348 C G 776.44 PASS AB=0.281;AC=1;AF=0.50;AN=2;BaseQRankSum=0.168;DB;DP=32;Dels=0.0;FS=3.099;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.796;QD=24.26;ReadPosRankSum=0.713;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL18R1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233957 GT:AD:DP:GQ:PL 0/1:9,23:32:99:806,0,243
2 102984684 rs1558627 G A 174.41 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.588;DB;DP=12;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.259;QD=14.53;ReadPosRankSum=-0.259;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL18R1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233957 GT:AD:DP:GQ:PL 0/1:6,6:12:99:204,0,220
2 102992675 rs2270297 T C 59.21 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.537;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.988;QD=9.87;ReadPosRankSum=0.406;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL18R1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334376 GT:AD:DP:GQ:PL 0/1:3,3:6:89.21:89,0,106
2 103006448 rs6749014 C T 165.72 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.271;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.356;QD=10.36;ReadPosRankSum=-0.054;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL18R1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233957 GT:AD:DP:GQ:PL 0/1:10,6:16:99:196,0,355
2 103010912 rs1420096 C T 108.90 PASS AB=0.737;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.38;DB;DP=19;Dels=0.0;FS=2.735;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.887;QD=5.44;ReadPosRankSum=-0.591;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL18R1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233957 GT:AD:DP:GQ:PL 0/1:14,5:19:99:139,0,480
2 103012902 rs1420095 A G 31.35 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.198;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9987;MQ=60.0;MQ0=0;MQRankSum=0.198;QD=4.48;ReadPosRankSum=0.922;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL18R1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233957 GT:AD:DP:GQ:PL 0/1:5,2:7:61.34:61,0,190
2 103039584 rs3817465 A T 92.16 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.333;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9789;MQ=60.0;MQ0=0;MQRankSum=0.267;QD=6.58;ReadPosRankSum=-0.8;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL18RAP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264260 GT:AD:DP:GQ:PL 0/1:9,5:14:99:122,0,318
2 103039686 rs41365546 C A 654.19 PASS AB=0.475;AC=1;AF=0.50;AN=2;BaseQRankSum=1.896;DB;DP=40;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.95;MQ0=0;MQRankSum=0.244;QD=16.35;ReadPosRankSum=0.921;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL18RAP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000497795 GT:AD:DP:GQ:PL 0/1:19,21:40:99:684,0,625
2 103039929 rs2272128 G A 130.41 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.259;DB;DP=12;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.583;QD=10.87;ReadPosRankSum=0.259;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL18RAP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264260 GT:AD:DP:GQ:PL 0/1:6,6:12:99:160,0,216
2 103040177 rs6543133 A T 83.19 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=20.8;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL18RAP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264260 GT:AD:DP:GQ:PL 0/1:1,3:4:27.97:113,0,28
2 103040247 rs11377261 T TG 233.54 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=3.014;DB;DP=20;FS=0.0;HRun=1;HaplotypeScore=76.8517;IndelType=I;MQ=60.54;MQ0=0;MQRankSum=-2.188;QD=11.68;ReadPosRankSum=0.289;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL18RAP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264260 GT:AD:DP:GQ:PL 0/1:12,8:20:99:273,0,371
2 103040945 rs887972 G A 485.61 PASS AB=0.457;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.97;DB;DP=35;Dels=0.0;FS=3.106;HRun=0;HaplotypeScore=0.9999;MQ=59.34;MQ0=0;MQRankSum=0.48;QD=13.87;ReadPosRankSum=-2.368;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL18RAP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000450855 GT:AD:DP:GQ:PL 0/1:16,19:35:99:516,0,570
2 103057668 rs11465700 G A 122.48 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.731;QD=24.5;ReadPosRankSum=0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL18RAP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264260 GT:AD:DP:GQ:PL 0/1:1,4:5:24.96:152,0,25
2 103059613 rs1558651 A G 1356.75 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.09;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL18RAP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264260 GT:AD:DP:GQ:PL 1/1:0,41:41:99:1390,111,0
2 103063369 rs6708413 G A 530.76 PASS AB=0.414;AC=1;AF=0.50;AN=2;BaseQRankSum=0.288;DB;DP=29;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.2;MQ0=0;MQRankSum=0.598;QD=18.3;ReadPosRankSum=0.642;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL18RAP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264260 GT:AD:DP:GQ:PL 0/1:12,17:29:99:561,0,397
2 103063489 rs11465722 C T 1465.74 PASS AB=0.567;AC=1;AF=0.50;AN=2;BaseQRankSum=2.626;DB;DP=136;Dels=0.0;FS=3.36;HRun=0;HaplotypeScore=3.178;MQ=58.98;MQ0=0;MQRankSum=1.201;QD=10.78;ReadPosRankSum=-0.769;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL18RAP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264260 GT:AD:DP:GQ:PL 0/1:76,58:136:99:1496,0,2223
2 103068156 rs917998 C T 340.37 PASS AB=0.645;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.434;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.516;QD=10.98;ReadPosRankSum=0.392;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL18RAP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264260 GT:AD:DP:GQ:PL 0/1:20,11:31:99:370,0,715
2 103068787 rs7559479 G A 239.70 PASS AB=0.385;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.696;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9734;MQ=59.29;MQ0=0;MQRankSum=1.381;QD=18.44;ReadPosRankSum=-1.67;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL18RAP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264260 GT:AD:DP:GQ:PL 0/1:5,8:13:99:270,0,129
2 103068834 rs7603250 T A 31.21 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.026;QD=7.8;ReadPosRankSum=1.026;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL18RAP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264260 GT:AD:DP:GQ:PL 0/1:2,2:4:61.20:61,0,66
2 103090575 rs79463214 A C 206.36 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=2.011;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.529;QD=12.9;ReadPosRankSum=0.635;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295269 GT:AD:DP:GQ:PL 0/1:9,7:16:99:236,0,310
2 103095404 rs11692304 G A 340.10 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=1.124;DB;DP=35;Dels=0.0;FS=1.422;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=-0.129;QD=9.72;ReadPosRankSum=-0.497;SNPEFF_AMINO_ACID_CHANGE=S121;SNPEFF_CODON_CHANGE=tcG/tcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_103095298_103095761;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000295269 GT:AD:DP:GQ:PL 0/1:20,15:35:99:370,0,546
2 103120232 rs2075188 G A 840.33 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.12;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295269 GT:AD:DP:GQ:PL 1/1:0,26:27:66.20:873,66,0
2 103120311 rs2075187 G A 315.15 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=57.87;MQ0=0;QD=28.65;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295269 GT:AD:DP:GQ:PL 1/1:0,11:11:27.09:348,27,0
2 103120356 rs4851015 C T 130.59 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.65;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295269 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:163,12,0
2 103120400 rs4851016 C T 47.98 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.99;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295269 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
2 103121536 rs7605606 G A 49.30 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.65;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295269 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
2 103125138 rs6751949 G A 93.66 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.22;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000492154 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:126,9,0
2 103125182 rs6724322 C T 211.97 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.33;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000492154 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:245,18,0
2 103125457 rs6739301 A G 1515.08 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.92;MQ0=0;QD=35.23;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000492154 GT:AD:DP:GQ:PL 1/1:0,43:43:99:1548,114,0
2 103125466 rs6742381 T C 1196.57 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.78;MQ0=0;QD=31.49;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000492154 GT:AD:DP:GQ:PL 1/1:0,38:38:99:1230,108,0
2 103125632 rs4851607 C T 51.75 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.87;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000492154 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:83,6,0
2 103128866 rs4851609 T C 221.77 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295269 GT:AD:DP:GQ:PL 1/1:0,8:8:21.06:255,21,0
2 103136309 rs1403550 T C 1516.85 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7074;MQ=59.49;MQ0=0;QD=33.71;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295269 GT:AD:DP:GQ:PL 1/1:0,44:45:99:1550,117,0
2 103136446 rs1403551 T G 1454.44 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.45;MQ0=0;QD=34.63;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295269 GT:AD:DP:GQ:PL 1/1:0,42:42:99:1487,114,0
2 103141447 rs2015478 A G 7440.05 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.717;DB;DP=230;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.8188;MQ=59.62;MQ0=0;MQRankSum=-1.351;QD=32.35;ReadPosRankSum=1.412;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295269 GT:AD:DP:GQ:PL 1/1:1,229:230:99:7440,569,0
2 103141651 rs1024798 G C 1135.74 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.34;MQ0=0;QD=32.45;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295269 GT:AD:DP:GQ:PL 1/1:0,35:35:90.23:1169,90,0
2 103149100 rs1014286 G A 809.33 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.14;MQ0=0;QD=29.98;SNPEFF_AMINO_ACID_CHANGE=G784S;SNPEFF_CODON_CHANGE=Ggc/Agc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_103148789_103150431;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000295269 GT:AD:DP:GQ:PL 1/1:0,27:27:60.20:842,60,0
2 103149162 rs2008159 A G 865.72 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.07;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295269 GT:AD:DP:GQ:PL 1/1:0,24:24:69.22:899,69,0
2 103149182 rs2008157 A G 585.97 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.55;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295269 GT:AD:DP:GQ:PL 1/1:0,18:18:48.15:619,48,0
2 103281960 rs6543176 A G 288.11 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.01;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233969 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:321,24,0
2 103300506 rs6757258 A G 149.39 PASS AB=0.3;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.166;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.296;QD=14.94;ReadPosRankSum=-0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233969 GT:AD:DP:GQ:PL 0/1:3,7:10:97.67:179,0,98
2 103317840 rs2310319 T C 106.24 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.25;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233969 GT:AD:DP:GQ:PL 1/1:0,5:5:12.03:139,12,0
2 103324575 rs17833353 T C 2242.19 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.544;DB;DP=71;Dels=0.0;FS=6.084;HRun=0;HaplotypeScore=4.4018;MQ=59.41;MQ0=0;MQRankSum=-1.039;QD=31.58;ReadPosRankSum=0.297;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233969 GT:AD:DP:GQ:PL 1/1:1,69:71:99:2275,137,0
2 103340541 rs6759290 T C 129.45 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.36;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MFSD9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421966 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:162,12,0
2 103343234 rs3796061 G C 1862.60 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=51.9;MQ0=0;QD=32.11;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MFSD9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421966 GT:AD:DP:GQ:PL 1/1:0,58:58:99:1896,147,0
2 103343275 rs68180714 G GA 496.62 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.147;DB;DP=109;FS=4.481;HRun=19;HaplotypeScore=1071.6946;IndelType=I;MQ=48.34;MQ0=0;MQRankSum=0.196;QD=4.56;ReadPosRankSum=-2.491;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MFSD9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421966 GT:AD:DP:GQ:PL 1/1:64,29:109:1.81:535,2,0
2 103431404 rs887987 T C 1336.16 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.4;MQ0=0;QD=32.59;SNPEFF_AMINO_ACID_CHANGE=W127R;SNPEFF_CODON_CHANGE=Tgg/Cgg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_103431207_103433875;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM182;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000409528 GT:AD:DP:GQ:PL 1/1:0,41:41:99:1369,108,0
2 105185415 rs7609175 G A 82.92 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.64;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AC013402.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408727 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:115,9,0
2 105665520 rs12614222 G A 118.48 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=19.75;ReadPosRankSum=-0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MRPS9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258455 GT:AD:DP:GQ:PL 0/1:2,4:6:43.44:148,0,43
2 105665534 rs12611937 T C 152.90 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=0.922;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.198;QD=21.84;ReadPosRankSum=-0.922;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MRPS9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258455 GT:AD:DP:GQ:PL 0/1:2,5:7:52.24:183,0,52
2 105665808 rs17634737 C T 420.43 PASS AB=0.576;AC=1;AF=0.50;AN=2;BaseQRankSum=2.932;DB;DP=33;Dels=0.0;FS=1.741;HRun=0;HaplotypeScore=0.0;MQ=58.86;MQ0=0;MQRankSum=1.439;QD=12.74;ReadPosRankSum=-0.747;SNPEFF_AMINO_ACID_CHANGE=D105;SNPEFF_CODON_CHANGE=gaC/gaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_105665629_105665808;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MRPS9;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000258455 GT:AD:DP:GQ:PL 0/1:19,14:33:99:450,0,535
2 105705507 rs11538198 C T 845 PASS AB=0.456;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.373;DB;DP=57;Dels=0.0;FS=2.325;HRun=1;HaplotypeScore=0.9734;MQ=59.6;MQ0=0;MQRankSum=0.601;QD=14.82;ReadPosRankSum=-1.706;SNPEFF_AMINO_ACID_CHANGE=L185;SNPEFF_CODON_CHANGE=ctC/ctT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_105705442_105705527;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MRPS9;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000258455 GT:AD:DP:GQ:PL 0/1:26,31:57:99:875,0,841
2 105709023 rs6543282 T C 1417.60 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.46;MQ0=0;QD=32.97;SNPEFF_AMINO_ACID_CHANGE=S272;SNPEFF_CODON_CHANGE=agT/agC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_105708859_105709027;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MRPS9;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000258455 GT:AD:DP:GQ:PL 1/1:0,42:43:99:1451,114,0
2 105709145 rs77811260 C T 140.88 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.843;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.259;QD=11.74;ReadPosRankSum=0.467;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MRPS9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258455 GT:AD:DP:GQ:PL 0/1:6,6:12:99:171,0,168
2 105713697 rs15567 A G 414.73 PASS AB=0.515;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.63;DB;DP=33;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.43;MQ0=0;MQRankSum=-1.639;QD=12.57;ReadPosRankSum=-0.666;SNPEFF_AMINO_ACID_CHANGE=S338;SNPEFF_CODON_CHANGE=tcA/tcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_105713613_105713782;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MRPS9;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000258455 GT:AD:DP:GQ:PL 0/1:17,16:33:99:445,0,560
2 105716266 rs9066 A G 209.66 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=1.331;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.75;MQ0=0;MQRankSum=0.289;QD=13.98;ReadPosRankSum=1.91;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MRPS9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472220 GT:AD:DP:GQ:PL 0/1:8,7:15:99:240,0,277
2 105859249 rs35946826 C T 1634.69 PASS AB=0.532;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.677;DB;DP=124;Dels=0.0;FS=3.283;HRun=1;HaplotypeScore=0.0;MQ=59.29;MQ0=0;MQRankSum=-0.332;QD=13.18;ReadPosRankSum=1.661;SNPEFF_AMINO_ACID_CHANGE=L312F;SNPEFF_CODON_CHANGE=Ctc/Ttc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_105858200_105859924;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR45;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000258456 GT:AD:DP:GQ:PL 0/1:66,58:124:99:1665,0,1996
2 105885961 rs2241797 T C 164.99 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.067;DB;DP=8;Dels=0.0;FS=3.332;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.572;QD=20.62;ReadPosRankSum=-1.589;SNPEFF_AMINO_ACID_CHANGE=H180R;SNPEFF_CODON_CHANGE=cAt/cGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_105885729_105886162;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TGFBRAP1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000543724 GT:AD:DP:GQ:PL 0/1:2,6:8:58.34:195,0,58
2 105889349 rs11676273 G A 663.79 PASS AB=0.457;AC=1;AF=0.50;AN=2;BaseQRankSum=0.389;DB;DP=47;Dels=0.0;FS=6.94;HRun=1;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=-1.732;QD=14.12;ReadPosRankSum=1.261;SNPEFF_AMINO_ACID_CHANGE=L100;SNPEFF_CODON_CHANGE=ctC/ctT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_105889312_105889471;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TGFBRAP1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000543724 GT:AD:DP:GQ:PL 0/1:21,25:47:99:694,0,604
2 105897261 rs2679833 C T 35.63 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=29.0;MQ0=0;QD=17.81;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TGFBRAP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258449 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:67,6,0
2 105924017 rs67600221 C T 1020.68 PASS AB=0.486;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.854;DB;DP=74;Dels=0.0;FS=1.314;HRun=0;HaplotypeScore=4.6109;MQ=55.54;MQ0=0;MQRankSum=1.075;QD=13.79;ReadPosRankSum=0.19;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TGFBRAP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258449 GT:AD:DP:GQ:PL 0/1:36,38:74:99:1051,0,959
2 105977761 rs11124029 G A 577.10 PASS AB=0.577;AC=1;AF=0.50;AN=2;BaseQRankSum=2.806;DB;DP=52;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7262;MQ=59.56;MQ0=0;MQRankSum=-1.195;QD=11.1;ReadPosRankSum=1.454;SNPEFF_AMINO_ACID_CHANGE=P273;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_105977285_105977891;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FHL2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000322142 GT:AD:DP:GQ:PL 0/1:30,22:52:99:607,0,829
2 105979730 rs2278502 C A 167.86 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.868;DB;DP=15;Dels=0.0;FS=2.447;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.331;QD=11.19;ReadPosRankSum=1.678;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FHL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000452732 GT:AD:DP:GQ:PL 0/1:8,7:15:99:198,0,275
2 106013216 rs11891016 T C 1744.38 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.73;MQ0=0;QD=31.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FHL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000322142 GT:AD:DP:GQ:PL 1/1:0,55:55:99:1777,147,0
2 106013248 rs11884297 C T 362.61 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=2.266;DB;DP=40;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=58.25;MQ0=0;MQRankSum=2.295;QD=9.07;ReadPosRankSum=-0.852;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FHL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000322142 GT:AD:DP:GQ:PL 0/1:25,15:40:99:393,0,814
2 106015194 rs60968240 G C 32.86 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.754;DB;DP=8;Dels=0.0;FS=3.68;HRun=3;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=-0.55;QD=4.11;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FHL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000322142 GT:AD:DP:GQ:PL 0/1:4,4:8:62.85:63,0,106
2 106471393 rs6543345 T C 174.42 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.88;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NCK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233154 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:207,15,0
2 106472383 rs6752686 T C 40.77 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=32.69;MQ0=0;QD=20.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NCK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233154 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:72,6,0
2 106472788 rs3835871 C CATT 847.22 PASS AC=2;AF=1.00;AN=2;DB;DP=13;FS=0.0;HRun=0;HaplotypeScore=37.373;IndelType=I;MQ=54.07;MQ0=0;QD=65.17;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NCK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233154 GT:AD:DP:GQ:PL 1/1:0,13:13:39.13:889,39,0
2 106497649 rs13003975 C A 39.26 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=9.81;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NCK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233154 GT:AD:DP:GQ:PL 0/1:2,2:4:65.85:69,0,66
2 106690137 rs4851111 G A 157.04 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.581;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.581;QD=11.22;ReadPosRankSum=-1.872;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C2orf40;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000493478 GT:AD:DP:GQ:PL 0/1:8,6:14:99:187,0,266
2 106710668 rs11268588 C CGCAGGAAGGAAGTGCCACCTT 2093.92 PASS AC=2;AF=1.00;AN=2;DB;DP=54;FS=0.0;HRun=0;HaplotypeScore=747.5816;IndelType=I;MQ=50.88;MQ0=0;QD=38.78;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UXS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283148 GT:AD:DP:GQ:PL 1/1:48,5:54:33.11:2136,33,0
2 106714953 rs1869064 A C 52.75 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.37;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UXS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000428048 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
2 106715342 rs3820891 G A 704.69 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9998;MQ=58.89;MQ0=0;QD=33.56;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UXS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000428048 GT:AD:DP:GQ:PL 1/1:0,21:21:57.18:738,57,0
2 106717656 rs10177888 G A 722.52 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=57.87;MQ0=0;QD=32.84;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UXS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000416298 GT:AD:DP:GQ:PL 1/1:0,22:22:60.19:756,60,0
2 106717743 rs10202208 C T 316 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.39;MQ0=0;QD=35.11;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UXS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000416298 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:349,27,0
2 106721555 rs1901469 G A 49.30 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=16.43;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UXS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283148 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:81,6,0
2 106739322 rs79303959 C A 861.47 PASS AB=0.46;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.355;DB;DP=50;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.6;MQ0=0;MQRankSum=2.044;QD=17.23;ReadPosRankSum=0.039;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UXS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000436241 GT:AD:DP:GQ:PL 0/1:23,27:50:99:891,0,732
2 106739752 rs11325302 AG A 241.52 PASS AC=2;AF=1.00;AN=2;DB;DP=9;FS=0.0;HRun=4;HaplotypeScore=33.9411;IndelType=D;MQ=62.36;MQ0=0;QD=26.84;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UXS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283148 GT:AD:DP:GQ:PL 1/1:1,8:9:24.07:284,24,0
2 106742139 rs4851925 C T 550.16 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.56;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UXS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283148 GT:AD:DP:GQ:PL 1/1:0,18:18:42.14:583,42,0
2 106742177 rs3739137 T A 341.51 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.95;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UXS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283148 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:374,27,0
2 106774298 rs6732473 A G 31.82 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=51.77;MQ0=0;QD=10.61;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UXS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474920 GT:AD:DP:GQ:PL 1/1:0,3:3:6.01:63,6,0
2 106780015 rs3910716 C T 84.39 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.13;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UXS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283148 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:116,9,0
2 106780055 rs10631203 C CTG 385.02 PASS AC=2;AF=1.00;AN=2;DB;DP=7;FS=0.0;HRun=0;HaplotypeScore=32.7821;IndelType=I;MQ=56.62;MQ0=0;QD=55.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UXS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283148 GT:AD:DP:GQ:PL 1/1:1,6:7:21.07:427,21,0
2 106782398 rs4851115 C G 1226.04 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.3;MQ0=0;QD=37.15;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UXS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283148 GT:AD:DP:GQ:PL 1/1:0,33:33:96.29:1259,96,0
2 106782719 rs76110416 A C 198.83 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UXS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283148 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:232,18,0
2 106988815 rs144195123 A G 85.61 MQFilter40 AB=0.588;AC=1;AF=0.50;AN=2;BaseQRankSum=1.286;DB;DP=17;Dels=0.0;FS=6.368;HRun=1;HaplotypeScore=0.0;MQ=37.69;MQ0=2;MQRankSum=-1.776;QD=5.04;ReadPosRankSum=-0.551;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC114755.7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000447760 GT:AD:DP:GQ:PL 0/1:10,7:17:99:116,0,255
2 106992952 rs4641931 A G 78.57 PASS AB=0.706;AC=1;AF=0.50;AN=2;BaseQRankSum=2.85;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9933;MQ=42.9;MQ0=0;MQRankSum=-0.788;QD=4.62;ReadPosRankSum=-0.91;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC114755.7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000447760 GT:AD:DP:GQ:PL 0/1:12,5:17:99:109,0,335
2 106992963 rs11464214 A AG 144.99 PASS AB=0.739;AC=1;AF=0.50;AN=2;BaseQRankSum=1.926;DB;DP=17;FS=0.0;HRun=0;HaplotypeScore=58.0813;IndelType=I;MQ=43.52;MQ0=0;MQRankSum=-0.906;QD=8.53;ReadPosRankSum=0.0;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC114755.7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000447760 GT:AD:DP:GQ:PL 0/1:11,6:17:99:184,0,414
2 106994382 rs62145217 A G 40.99 MQFilter40 AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=32.04;MQ0=1;MQRankSum=0.736;QD=10.25;ReadPosRankSum=0.736;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC114755.7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000447760 GT:AD:DP:GQ:PL 0/1:2,2:4:30.98:71,0,31
2 106998377 rs10169094 G A 55 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8667;MQ=44.01;MQ0=0;MQRankSum=0.358;QD=11.0;ReadPosRankSum=-1.231;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC114755.7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000447760 GT:AD:DP:GQ:PL 0/1:2,3:5:55.26:85,0,55
2 107002646 rs4384784 G C 2112.42 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=45.03;MQ0=0;QD=32.5;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGPD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000541826 GT:AD:DP:GQ:PL 1/1:0,65:65:99:2145,165,0
2 107007576 rs60043380 A T 706.18 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=37.69;MQ0=5;QD=23.54;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGPD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000541826 GT:AD:DP:GQ:PL 1/1:2,28:30:66.10:739,66,0
2 107007994 . TA T 798.09 PASS AC=2;AF=1.00;AN=2;DP=39;FS=0.0;HRun=11;HaplotypeScore=122.1983;IndelType=D;MQ=19.14;MQ0=14;QD=10.5;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGPD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000541826 GT:AD:DP:GQ:PL 1/1:12,62:39:99:840,104,0
2 107008058 rs62145229 A G 110.23 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=12.99;MQ0=6;QD=3.94;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGPD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000541826 GT:AD:DP:GQ:PL 1/1:5,23:28:17.95:143,18,0
2 107017152 rs832326 C T 62.88 MQFilter40 AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=29.82;MQ0=0;MQRankSum=0.727;QD=15.72;ReadPosRankSum=0.727;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGPD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409886 GT:AD:DP:GQ:PL 0/1:1,3:4:9.66:93,0,10
2 107017777 . G C 477.50 MQFilter40 AB=0.675;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.113;DP=121;Dels=0.0;FS=4.499;HRun=0;HaplotypeScore=0.7887;MQ=22.71;MQ0=55;MQRankSum=1.149;QD=3.95;ReadPosRankSum=0.563;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGPD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409886 GT:AD:DP:GQ:PL 0/1:81,39:121:99:507,0,875
2 107032279 rs6543411 T C 4092.86 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=170;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=34.69;MQ0=12;QD=24.08;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGPD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304514 GT:AD:DP:GQ:PL 1/1:0,169:170:99:4093,358,0
2 107039595 . T C 43.23 MQFilter40;QDFilter2 AB=0.843;AC=1;AF=0.50;AN=2;BaseQRankSum=0.984;DP=250;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=5.66;MQ0=235;MQRankSum=-0.637;QD=0.17;ReadPosRankSum=0.752;SNPEFF_AMINO_ACID_CHANGE=I1610V;SNPEFF_CODON_CHANGE=Atc/Gtc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_107039499_107041722;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGPD3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000304514 GT:AD:DP:GQ:PL 0/1:210,39:250:73.23:73,0,174
2 107040369 . C T 1805.91 MQFilter40 AB=0.576;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.0;DP=250;DS;Dels=0.0;FS=2.289;HRun=4;HaplotypeScore=0.0;MQ=29.78;MQ0=38;MQRankSum=-0.048;QD=7.22;ReadPosRankSum=-0.168;SNPEFF_AMINO_ACID_CHANGE=E1352K;SNPEFF_CODON_CHANGE=Gaa/Aaa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_107039499_107041722;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGPD3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000304514 GT:AD:DP:GQ:PL 0/1:144,106:250:99:1836,0,2289
2 107040564 rs55993306 C T 2328.90 MQFilter40 AB=0.528;AC=1;AF=0.50;AN=2;BaseQRankSum=-6.397;DB;DP=250;DS;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.7356;MQ=26.89;MQ0=16;MQRankSum=-0.423;QD=9.32;ReadPosRankSum=-1.186;SNPEFF_AMINO_ACID_CHANGE=E1287K;SNPEFF_CODON_CHANGE=Gag/Aag;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_107039499_107041722;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGPD3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000304514 GT:AD:DP:GQ:PL 0/1:132,118:250:99:2359,0,2706
2 107042413 . G A 186.59 MQFilter40 AB=0.823;AC=1;AF=0.50;AN=2;BaseQRankSum=0.746;DP=79;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=24.64;MQ0=28;MQRankSum=-2.54;QD=2.36;ReadPosRankSum=-2.302;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGPD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304514 GT:AD:DP:GQ:PL 0/1:65,14:79:99:217,0,1150
2 107042620 . C T 257.29 MQFilter40 AB=0.809;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.364;DP=89;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=4.9961;MQ=39.1;MQ0=1;MQRankSum=0.192;QD=2.89;ReadPosRankSum=-0.236;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGPD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304514 GT:AD:DP:GQ:PL 0/1:72,17:89:99:287,0,2063
2 107057642 rs145239949 A T 677.89 MQFilter40 AB=0.488;AC=1;AF=0.50;AN=2;BaseQRankSum=1.656;DB;DP=41;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=36.3;MQ0=0;MQRankSum=-1.135;QD=16.53;ReadPosRankSum=2.308;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGPD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304514 GT:AD:DP:GQ:PL 0/1:20,21:41:99:708,0,615
2 107073469 rs76857936 T A 4774.83 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=232;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.5115;MQ=29.94;MQ0=53;QD=20.58;SNPEFF_AMINO_ACID_CHANGE=A121;SNPEFF_CODON_CHANGE=gcA/gcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_107073427_107073579;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGPD3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000304514 GT:AD:DP:GQ:PL 1/1:40,192:232:99:4775,439,0
2 107073501 rs72627454 C T 4906.82 MQFilter40 AC=2;AF=1.00;AN=2;BaseQRankSum=-0.768;DB;DP=214;DS;Dels=0.0;FS=4.916;HRun=1;HaplotypeScore=2.9156;MQ=32.03;MQ0=35;MQRankSum=2.52;QD=22.93;ReadPosRankSum=1.345;SNPEFF_AMINO_ACID_CHANGE=D111N;SNPEFF_CODON_CHANGE=Gat/Aat;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_107073427_107073579;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGPD3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000304514 GT:AD:DP:GQ:PL 1/1:33,181:214:99:4907,415,0
2 107073736 rs56077036 C A 270.73 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=19.31;MQ0=4;QD=15.04;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGPD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304514 GT:AD:DP:GQ:PL 1/1:0,18:18:35.93:304,36,0
2 107073804 rs60279773 C T 81.74 MQFilter40 AB=0.55;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.219;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=14.83;MQ0=11;MQRankSum=0.729;QD=4.09;ReadPosRankSum=-0.361;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGPD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304514 GT:AD:DP:GQ:PL 0/1:11,9:20:65.73:112,0,66
2 107074108 . C T 47.32 MQFilter40;QDFilter2 AB=0.763;AC=1;AF=0.50;AN=2;BaseQRankSum=3.685;DP=225;DS;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=6.09;MQ0=192;MQRankSum=-0.172;QD=0.21;ReadPosRankSum=1.432;SNPEFF_AMINO_ACID_CHANGE=R56Q;SNPEFF_CODON_CHANGE=cGa/cAa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_107074023_107074134;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGPD3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000304514 GT:AD:DP:GQ:PL 0/1:171,53:225:77.31:77,0,208
2 107079704 . A G 55.74 MQFilter40 AC=2;AF=1.00;AN=2;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=14.35;MQ0=6;QD=6.19;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGPD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304514 GT:AD:DP:GQ:PL 1/1:0,9:9:9.01:88,9,0
2 107107567 rs2228021 G C 1087.23 PASS AB=0.511;AC=1;AF=0.50;AN=2;BaseQRankSum=0.39;DB;DP=141;Dels=0.0;FS=13.888;HRun=1;HaplotypeScore=3.7993;MQ=44.19;MQ0=5;MQRankSum=-0.611;QD=7.66;ReadPosRankSum=1.211;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_unprocessed_pseudogene;SNPEFF_GENE_NAME=AC108868.4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303432 GT:AD:DP:GQ:PL 0/1:72,69:141:99:1117,0,1996
2 107107694 rs6543414 A G 1825.27 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=97;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=28.12;MQ0=14;QD=18.82;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_unprocessed_pseudogene;SNPEFF_GENE_NAME=AC108868.4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303432 GT:AD:DP:GQ:PL 1/1:0,97:97:99:1858,171,0
2 107107765 rs6543415 C A 1391.48 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=45.41;MQ0=0;QD=32.36;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_unprocessed_pseudogene;SNPEFF_GENE_NAME=AC108868.4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303432 GT:AD:DP:GQ:PL 1/1:0,43:43:99:1424,108,0
2 107118896 rs4340514 T C 178.08 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=41.35;MQ0=0;QD=25.44;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_unprocessed_pseudogene;SNPEFF_GENE_NAME=AC108868.4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303432 GT:AD:DP:GQ:PL 1/1:0,7:7:18.04:211,18,0
2 107120812 rs62154001 T A 47.24 PASS AB=0.818;AC=1;AF=0.50;AN=2;BaseQRankSum=1.05;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=40.19;MQ0=2;MQRankSum=1.55;QD=2.15;ReadPosRankSum=0.65;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_unprocessed_pseudogene;SNPEFF_GENE_NAME=AC108868.4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000416057 GT:AD:DP:GQ:PL 0/1:18,4:22:77.24:77,0,332
2 107121040 rs67607254 T TA 514.74 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.735;DB;DP=22;FS=0.0;HRun=9;HaplotypeScore=54.5772;IndelType=I;MQ=36.8;MQ0=0;MQRankSum=0.0;QD=20.59;ReadPosRankSum=-1.349;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_unprocessed_pseudogene;SNPEFF_GENE_NAME=AC108868.4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000416057 GT:AD:DP:GQ:PL 1/1:4,21:22:46.89:557,47,0
2 107423128 rs3796114 C T 356.93 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.75;DB;DP=35;Dels=0.0;FS=2.958;HRun=0;HaplotypeScore=0.0;MQ=59.34;MQ0=0;MQRankSum=-0.283;QD=10.2;ReadPosRankSum=0.083;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ST6GAL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361686 GT:AD:DP:GQ:PL 0/1:20,15:35:99:387,0,706
2 107429801 rs6739022 C T 248.25 PASS AB=0.522;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.016;DB;DP=23;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.92;MQ0=0;MQRankSum=-0.462;QD=10.79;ReadPosRankSum=-0.4;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ST6GAL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361686 GT:AD:DP:GQ:PL 0/1:12,11:23:99:278,0,385
2 107446370 rs5833213 GA G 671.93 PASS AC=2;AF=1.00;AN=2;DB;DP=30;FS=0.0;HRun=11;HaplotypeScore=268.6464;IndelType=D;MQ=60.36;MQ0=0;QD=22.4;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ST6GAL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361686 GT:AD:DP:GQ:PL 1/1:1,29:30:86.90:714,87,0
2 107446396 rs877693 T C 1506.66 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.28;MQ0=0;QD=38.63;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ST6GAL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361686 GT:AD:DP:GQ:PL 1/1:0,39:39:99:1540,114,0
2 107446430 rs935565 T C 1868.22 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=60.2;MQ0=0;QD=34.6;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ST6GAL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361686 GT:AD:DP:GQ:PL 1/1:0,54:54:99:1901,147,0
2 107446878 rs34368675 C T 109.59 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.731;QD=21.92;ReadPosRankSum=0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ST6GAL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361686 GT:AD:DP:GQ:PL 0/1:1,4:5:27.18:140,0,27
2 107448988 rs12623034 C T 646.38 PASS AB=0.522;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.079;DB;DP=46;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.442;QD=14.05;ReadPosRankSum=-0.897;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ST6GAL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361686 GT:AD:DP:GQ:PL 0/1:24,22:46:99:676,0,689
2 107449321 rs56781498 A T 31.85 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=8;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=15.93;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ST6GAL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361686 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:63,6,0
2 107450525 rs12615112 T C 1392.91 PASS AB=0.532;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.343;DB;DP=111;Dels=0.0;FS=10.651;HRun=0;HaplotypeScore=0.0;MQ=59.79;MQ0=0;MQRankSum=0.707;QD=12.55;ReadPosRankSum=-1.241;SNPEFF_AMINO_ACID_CHANGE=I341V;SNPEFF_CODON_CHANGE=Ata/Gta;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_107450505_107450602;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ST6GAL2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000361686 GT:AD:DP:GQ:PL 0/1:59,52:111:99:1423,0,1728
2 107450589 rs3796111 C T 914.98 PASS AB=0.541;AC=1;AF=0.50;AN=2;BaseQRankSum=5.396;DB;DP=75;Dels=0.0;FS=3.033;HRun=0;HaplotypeScore=0.6651;MQ=59.69;MQ0=0;MQRankSum=0.363;QD=12.2;ReadPosRankSum=-0.266;SNPEFF_AMINO_ACID_CHANGE=A319;SNPEFF_CODON_CHANGE=gcG/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_107450505_107450602;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ST6GAL2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000361686 GT:AD:DP:GQ:PL 0/1:40,34:75:99:945,0,1234
2 108443325 rs1619178 T C 172.02 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.82;MQ0=0;QD=28.67;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGPD4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354986 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:205,15,0
2 108443328 rs3113782 A T 167.88 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.82;MQ0=0;QD=27.98;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGPD4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354986 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:201,15,0
2 108443511 rs7576738 C G 1316.52 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8321;MQ=48.42;MQ0=1;QD=28.01;SNPEFF_AMINO_ACID_CHANGE=S14;SNPEFF_CODON_CHANGE=tcC/tcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_108443388_108443541;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGPD4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000354986 GT:AD:DP:GQ:PL 1/1:0,47:47:99:1350,111,0
2 108443567 rs62159106 G A 825.54 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=50.09;MQ0=0;QD=28.47;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGPD4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354986 GT:AD:DP:GQ:PL 1/1:0,29:29:66.19:859,66,0
2 108443591 rs7603113 A C 626.95 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=51.23;MQ0=0;QD=28.5;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGPD4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354986 GT:AD:DP:GQ:PL 1/1:0,22:22:57.15:660,57,0
2 108443598 rs7577032 G C 573.01 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=50.99;MQ0=0;QD=28.65;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGPD4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354986 GT:AD:DP:GQ:PL 1/1:0,20:20:51.13:606,51,0
2 108443647 rs78477381 C G 73.43 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=40.26;MQ0=0;QD=10.49;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGPD4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354986 GT:AD:DP:GQ:PL 1/1:0,7:7:9.02:105,9,0
2 108453186 . C A 45.01 MQFilter40;QDFilter2 AC=2;AF=1.00;AN=2;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=11.23;MQ0=14;QD=1.88;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGPD4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354986 GT:AD:DP:GQ:PL 1/1:5,19:24:8.99:77,9,0
2 108475958 rs142985549 A G 5655.94 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=249;DS;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.7074;MQ=27.68;MQ0=18;QD=22.71;SNPEFF_AMINO_ACID_CHANGE=R286G;SNPEFF_CODON_CHANGE=Aga/Gga;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_108475835_108476010;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGPD4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000439322 GT:AD:DP:GQ:PL 1/1:9,240:249:99:5656,552,0
2 108479432 . G A 2751.99 MQFilter40 AC=2;AF=1.00;AN=2;BaseQRankSum=-0.758;DP=197;Dels=0.0;FS=3.054;HRun=0;HaplotypeScore=3.4594;MQ=20.41;MQ0=74;MQRankSum=0.958;QD=13.97;ReadPosRankSum=1.175;SNPEFF_AMINO_ACID_CHANGE=A563T;SNPEFF_CODON_CHANGE=Gca/Aca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_108479405_108479488;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGPD4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000439322 GT:AD:DP:GQ:PL 1/1:35,162:197:99:2785,233,0
2 108479487 . A T 439.15 MQFilter40 AC=2;AF=1.00;AN=2;BaseQRankSum=-1.669;DP=161;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9578;MQ=10.47;MQ0=104;MQRankSum=-0.157;QD=2.73;ReadPosRankSum=0.031;SNPEFF_AMINO_ACID_CHANGE=K581M;SNPEFF_CODON_CHANGE=aAg/aTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_108479405_108479488;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGPD4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000439322 GT:AD:DP:GQ:PL 1/1:45,115:161:53.99:472,54,0
2 108486470 . C T 134.43 MQFilter40 AC=2;AF=1.00;AN=2;DP=44;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=11.4;MQ0=35;QD=3.06;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGPD4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354986 GT:AD:DP:GQ:PL 1/1:34,10:44:15.04:167,15,0
2 108487097 . G A 900.46 MQFilter40 AC=2;AF=1.00;AN=2;DP=139;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=12.65;MQ0=82;QD=6.48;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGPD4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354986 GT:AD:DP:GQ:PL 1/1:58,81:139:99:933,108,0
2 108487330 rs148409227 A G 2724.71 MQFilter40 AC=2;AF=1.00;AN=2;BaseQRankSum=0.56;DB;DP=250;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.4398;MQ=17.21;MQ0=115;MQRankSum=1.029;QD=10.9;ReadPosRankSum=-1.289;SNPEFF_AMINO_ACID_CHANGE=N715S;SNPEFF_CODON_CHANGE=aAt/aGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_108487161_108488057;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGPD4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000439322 GT:AD:DP:GQ:PL 1/1:63,187:250:99:2758,288,0
2 108487826 rs62150212 C T 66.53 MQFilter40;QDFilter2 AB=0.015;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.621;DB;DP=67;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=10.76;MQ0=36;MQRankSum=-1.509;QD=0.99;ReadPosRankSum=-1.621;SNPEFF_AMINO_ACID_CHANGE=P1122;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_108487161_108489384;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGPD4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000354986 GT:AD:DP:GQ:PL 0/1:1,66:67:11.69:96,0,12
2 108487829 rs141407602 G C 38.97 MQFilter40;QDFilter2 AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=7.79;MQ0=36;QD=0.66;SNPEFF_AMINO_ACID_CHANGE=L1123;SNPEFF_CODON_CHANGE=ctG/ctC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_108487161_108489384;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGPD4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000354986 GT:AD:DP:GQ:PL 1/1:1,58:59:8.96:71,9,0
2 108494855 . G GA 198.26 PASS AC=2;AF=1.00;AN=2;DP=5;FS=0.0;HRun=0;HaplotypeScore=9.4108;IndelType=I;MQ=29.0;MQ0=0;QD=39.65;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGPD4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354986 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:240,15,0
2 108496435 rs832352 T A 4185.99 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=210;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=26.09;MQ0=77;QD=19.93;SNPEFF_AMINO_ACID_CHANGE=W1013R;SNPEFF_CODON_CHANGE=Tgg/Agg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_108496424_108496563;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGPD4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000439322 GT:AD:DP:GQ:PL 1/1:22,187:210:99:4186,352,0
2 108499667 rs832347 C T 168.02 MQFilter40;QDFilter2 AC=2;AF=1.00;AN=2;DB;DP=91;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=6.31;MQ0=78;QD=1.85;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGPD4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354986 GT:AD:DP:GQ:PL 1/1:25,66:91:26.86:201,27,0
2 108511073 . G T 611.48 MQFilter40 AB=0.606;AC=1;AF=0.50;AN=2;BaseQRankSum=3.393;DP=104;Dels=0.0;FS=6.495;HRun=2;HaplotypeScore=6.2075;MQ=24.28;MQ0=32;MQRankSum=-1.062;QD=5.88;ReadPosRankSum=0.38;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGPD4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408999 GT:AD:DP:GQ:PL 0/1:63,41:104:99:641,0,571
2 108511695 rs79631772 G A 55.79 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=28.44;MQ0=0;QD=18.6;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGPD4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408999 GT:AD:DP:GQ:PL 1/1:0,3:3:9.01:88,9,0
2 108520248 rs77981735 G C 40.02 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=16.76;MQ0=1;QD=10.01;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=AC009963.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000453431 GT:AD:DP:GQ:PL 1/1:0,4:4:8.98:72,9,0
2 108622812 rs72500448 TTA T 168.35 PASS AC=2;AF=1.00;AN=2;DB;DP=11;FS=0.0;HRun=0;HaplotypeScore=122.7931;IndelType=D;MQ=48.43;MQ0=0;QD=15.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC5A7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264047 GT:AD:DP:GQ:PL 1/1:5,6:11:15.05:210,15,0
2 108626468 rs6753886 G A 47.98 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.99;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC5A7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264047 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
2 108863767 rs9308806 A C 2476.87 PASS AC=2;AF=1.00;AN=2;DB;DP=81;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=6.254;MQ=58.67;MQ0=0;QD=30.58;SNPEFF_AMINO_ACID_CHANGE=V39;SNPEFF_CODON_CHANGE=gtA/gtC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_108863651_108863822;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SULT1C3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000329106 GT:AD:DP:GQ:PL 1/1:0,81:81:99:2510,190,0
2 108868711 rs17819861 T C 148.79 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.447;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.633;QD=14.88;ReadPosRankSum=-0.741;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SULT1C3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329106 GT:AD:DP:GQ:PL 0/1:4,6:10:99:179,0,135
2 108872012 rs13392744 C T 669.25 PASS AB=0.591;AC=1;AF=0.50;AN=2;BaseQRankSum=0.639;DB;DP=66;Dels=0.0;FS=8.873;HRun=1;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=-0.078;QD=10.14;ReadPosRankSum=0.391;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SULT1C3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329106 GT:AD:DP:GQ:PL 0/1:39,27:66:99:699,0,1264
2 108875024 rs6542757 G T 148.10 PASS AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9995;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=24.68;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SULT1C3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329106 GT:AD:DP:GQ:PL 0/1:1,5:6:19.74:178,0,20
2 108875244 rs6722745 T C 860.06 PASS AB=0.452;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.568;DB;DP=62;Dels=0.0;FS=5.519;HRun=0;HaplotypeScore=0.0;MQ=59.63;MQ0=0;MQRankSum=0.962;QD=13.87;ReadPosRankSum=-1.237;SNPEFF_AMINO_ACID_CHANGE=M194T;SNPEFF_CODON_CHANGE=aTg/aCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_108875190_108875284;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SULT1C3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000329106 GT:AD:DP:GQ:PL 0/1:28,34:62:99:890,0,744
2 108875464 rs72322214 AAAACTTGGTCAGGTGATGTTAT A 1407.87 PASS AB=0.853;AC=1;AF=0.50;AN=2;BaseQRankSum=4.672;DB;DP=58;FS=1.354;HRun=0;HaplotypeScore=1097.7769;IndelType=D;MQ=55.44;MQ0=0;MQRankSum=-2.921;QD=24.27;ReadPosRankSum=0.898;SNPEFF_EFFECT=FRAME_SHIFT;SNPEFF_EXON_ID=exon_2_108875422_108875602;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SULT1C3;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000376700 GT:AD:DP:GQ:PL 0/1:48,10:58:99:1447,0,10101
2 108876897 rs11687745 A G 809.04 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SULT1C3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329106 GT:AD:DP:GQ:PL 1/1:0,25:25:69.17:842,69,0
2 108876902 rs79597181 G A 98.24 PASS AB=0.483;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.95;DB;DP=29;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.807;QD=3.39;ReadPosRankSum=-0.371;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SULT1C3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329106 GT:AD:DP:GQ:PL 0/1:14,15:29:99:128,0,493
2 108876948 rs4141931 C T 2059.59 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.6;MQ0=0;QD=36.13;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SULT1C3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329106 GT:AD:DP:GQ:PL 1/1:0,56:57:99:2093,160,0
2 108877062 rs4141932 T A 3666.20 PASS AC=2;AF=1.00;AN=2;DB;DP=104;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.5782;MQ=59.82;MQ0=0;QD=35.25;SNPEFF_AMINO_ACID_CHANGE=L281M;SNPEFF_CODON_CHANGE=Ttg/Atg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_108877024_108877136;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SULT1C3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000376700 GT:AD:DP:GQ:PL 1/1:0,104:104:99:3666,274,0
2 108921433 rs73952184 C T 149.60 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.573;DB;DP=9;Dels=0.0;FS=10.792;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.573;QD=16.62;ReadPosRankSum=-0.248;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SULT1C2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000438339 GT:AD:DP:GQ:PL 0/1:3,6:9:88.70:180,0,89
2 108994808 rs1402467 C G 1202.35 PASS AB=0.551;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.215;DB;DP=98;Dels=0.0;FS=0.808;HRun=0;HaplotypeScore=0.0;MQ=59.53;MQ0=0;MQRankSum=-0.247;QD=12.27;ReadPosRankSum=0.026;SNPEFF_AMINO_ACID_CHANGE=D5E;SNPEFF_CODON_CHANGE=gaC/gaG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_108994468_108994962;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SULT1C4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000272452 GT:AD:DP:GQ:PL 0/1:54,44:98:99:1232,0,1828
2 108998797 rs4149434 A AG 1021.07 PASS AB=0.737;AC=1;AF=0.50;AN=2;BaseQRankSum=7.74;DB;DP=115;FS=2.259;HRun=1;HaplotypeScore=497.5711;IndelType=I;MQ=59.8;MQ0=0;MQRankSum=-0.432;QD=8.88;ReadPosRankSum=-1.123;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SULT1C4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272452 GT:AD:DP:GQ:PL 0/1:69,41:115:99:1060,0,1918
2 108998798 rs34003233 T G 33.11 HaplotypeScoreFilter13;QDFilter2 AB=0.879;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.029;DB;DP=110;Dels=0.04;FS=4.662;HRun=0;HaplotypeScore=60.7988;MQ=59.8;MQ0=0;MQRankSum=0.088;QD=0.29;ReadPosRankSum=-2.269;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SULT1C4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272452 GT:AD:DP:GQ:PL 0/1:58,8:110:63.11:63,0,1958
2 108999483 . CA C 46.06 QDFilter2 AB=0.795;AC=1;AF=0.50;AN=2;BaseQRankSum=2.04;DP=35;FS=1.906;HRun=18;HaplotypeScore=160.5101;IndelType=D;MQ=53.76;MQ0=0;MQRankSum=1.224;QD=1.32;ReadPosRankSum=1.441;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SULT1C4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000494122 GT:AD:DP:GQ:PL 0/1:24,8:35:85.09:85,0,207
2 108999786 rs4149436 T C 275.11 PASS AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.286;DB;DP=19;Dels=0.0;FS=1.829;HRun=0;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=0.694;QD=14.48;ReadPosRankSum=0.122;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SULT1C4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000494122 GT:AD:DP:GQ:PL 0/1:10,9:19:99:305,0,343
2 109066234 . AT A 133.50 PASS AB=0.718;AC=1;AF=0.50;AN=2;BaseQRankSum=0.299;DP=28;FS=0.0;HRun=13;HaplotypeScore=114.565;IndelType=D;MQ=59.56;MQ0=0;MQRankSum=0.789;QD=4.77;ReadPosRankSum=-0.082;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GCC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309863 GT:AD:DP:GQ:PL 0/1:17,11:28:99:173,0,305
2 109066288 rs2460945 A G 355.36 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.31;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GCC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309863 GT:AD:DP:GQ:PL 1/1:0,11:11:30.09:388,30,0
2 109069008 rs2683797 T C 549.48 PASS AB=0.452;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.973;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7873;MQ=60.0;MQ0=0;MQRankSum=0.695;QD=17.73;ReadPosRankSum=1.369;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GCC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467566 GT:AD:DP:GQ:PL 0/1:14,17:31:99:579,0,497
2 109089404 rs2243888 C G 353.65 PASS AB=0.083;AC=1;AF=0.50;AN=2;BaseQRankSum=0.579;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.579;QD=29.47;ReadPosRankSum=-0.869;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GCC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000393318 GT:AD:DP:GQ:PL 0/1:1,11:12:8.65:383,0,9
2 109098065 . C T 657.37 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.296;DP=35;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.34;MQ0=0;MQRankSum=0.32;QD=18.78;ReadPosRankSum=0.084;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GCC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309863 GT:AD:DP:GQ:PL 0/1:14,21:35:99:687,0,446
2 109098384 rs2718700 C A 133.63 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.177;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.222;QD=9.55;ReadPosRankSum=0.386;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GCC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309863 GT:AD:DP:GQ:PL 0/1:6,8:14:99:164,0,204
2 109098998 rs2577615 A G 186.70 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.073;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=15.56;ReadPosRankSum=-0.259;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GCC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309863 GT:AD:DP:GQ:PL 0/1:6,6:12:99:217,0,173
2 109099385 rs2577614 C T 39.56 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=13.19;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GCC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309863 GT:AD:DP:GQ:PL 0/1:1,2:3:31.62:70,0,32
2 109099477 rs2577613 A G 331.42 PASS AB=0.313;AC=1;AF=0.50;AN=2;BaseQRankSum=0.061;DB;DP=16;Dels=0.0;FS=4.771;HRun=0;HaplotypeScore=0.0;MQ=57.34;MQ0=0;MQRankSum=-1.653;QD=20.71;ReadPosRankSum=-0.306;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GCC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309863 GT:AD:DP:GQ:PL 0/1:5,11:16:99:361,0,125
2 109099572 rs2718698 C G 1152.05 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.32;MQ0=0;QD=33.88;SNPEFF_AMINO_ACID_CHANGE=Q1134E;SNPEFF_CODON_CHANGE=Caa/Gaa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_109099518_109099622;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GCC2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000309863 GT:AD:DP:GQ:PL 1/1:0,34:34:87.28:1185,87,0
2 109102534 rs2577586 G A 92.60 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.87;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GCC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481729 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:125,9,0
2 109116699 rs2438255 G A 42.14 MQFilter40 AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.517;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=30.18;MQ0=1;MQRankSum=0.322;QD=4.68;ReadPosRankSum=-1.221;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GCC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309863 GT:AD:DP:GQ:PL 0/1:5,4:9:72.13:72,0,126
2 109123996 rs2577596 T G 855.04 PASS AB=0.379;AC=1;AF=0.50;AN=2;BaseQRankSum=0.174;DB;DP=58;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=9.0742;MQ=59.28;MQ0=0;MQRankSum=0.306;QD=14.74;ReadPosRankSum=0.918;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GCC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309863 GT:AD:DP:GQ:PL 0/1:22,36:58:99:885,0,514
2 109127984 rs62148112 C T 810.75 MQFilter40 AB=0.531;AC=1;AF=0.50;AN=2;BaseQRankSum=1.678;DB;DP=113;Dels=0.0;FS=4.117;HRun=2;HaplotypeScore=2.5361;MQ=25.32;MQ0=1;MQRankSum=-3.099;QD=7.17;ReadPosRankSum=0.569;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GCC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309863 GT:AD:DP:GQ:PL 0/1:60,53:113:99:841,0,1156
2 109128054 rs62148144 C A 132.61 MQFilter40 AB=0.69;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.812;DB;DP=58;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=17.38;MQ0=22;MQRankSum=-2.658;QD=2.29;ReadPosRankSum=0.748;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GCC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309863 GT:AD:DP:GQ:PL 0/1:40,18:58:99:163,0,450
2 109128231 . C T 40.22 MQFilter40;QDFilter2 AB=0.912;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.715;DP=68;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=11.58;MQ0=57;MQRankSum=-1.377;QD=0.59;ReadPosRankSum=-1.377;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GCC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309863 GT:AD:DP:GQ:PL 0/1:62,6:68:70.22:70,0,210
2 109128260 rs73954372 G A 34.21 MQFilter40;QDFilter2 AB=0.875;AC=1;AF=0.50;AN=2;BaseQRankSum=2.404;DB;DP=64;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=13.11;MQ0=52;MQRankSum=-1.849;QD=0.53;ReadPosRankSum=0.555;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GCC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309863 GT:AD:DP:GQ:PL 0/1:56,8:64:64.20:64,0,277
2 109128296 rs73954373 A G 40.23 MQFilter40;QDFilter2 AB=0.826;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.034;DB;DP=46;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=15.9;MQ0=34;MQRankSum=-1.479;QD=0.87;ReadPosRankSum=0.925;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GCC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309863 GT:AD:DP:GQ:PL 0/1:38,8:46:70.23:70,0,212
2 109128310 rs111963733 T C 59.21 MQFilter40;QDFilter2 AB=0.681;AC=1;AF=0.50;AN=2;BaseQRankSum=0.394;DB;DP=47;Dels=0.0;FS=2.392;HRun=1;HaplotypeScore=0.0;MQ=20.28;MQ0=29;MQRankSum=-1.479;QD=1.26;ReadPosRankSum=-0.394;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GCC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309863 GT:AD:DP:GQ:PL 0/1:32,15:47:89.21:89,0,364
2 109128319 rs112503499 G A 62.24 MQFilter40;QDFilter2 AB=0.8;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.739;DB;DP=40;Dels=0.0;FS=5.497;HRun=0;HaplotypeScore=0.0;MQ=21.49;MQ0=23;MQRankSum=-1.212;QD=1.56;ReadPosRankSum=-1.845;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GCC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309863 GT:AD:DP:GQ:PL 0/1:32,8:40:92.23:92,0,323
2 109276099 rs74632558 G A 410.54 MQFilter40 AB=0.732;AC=1;AF=0.50;AN=2;BaseQRankSum=4.256;DB;DP=113;Dels=0.0;FS=0.977;HRun=0;HaplotypeScore=0.0;MQ=27.34;MQ0=14;MQRankSum=-0.807;QD=3.63;ReadPosRankSum=-0.621;SNPEFF_AMINO_ACID_CHANGE=R12H;SNPEFF_CODON_CHANGE=cGc/cAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_109276061_109276220;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LIMS1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000332345 GT:AD:DP:GQ:PL 0/1:82,30:113:99:441,0,1532
2 109276178 . C T 611.44 MQFilter40 AB=0.711;AC=1;AF=0.50;AN=2;BaseQRankSum=2.942;DP=152;Dels=0.0;FS=1.7;HRun=0;HaplotypeScore=2.9508;MQ=31.22;MQ0=13;MQRankSum=-1.887;QD=4.02;ReadPosRankSum=0.395;SNPEFF_AMINO_ACID_CHANGE=C100;SNPEFF_CODON_CHANGE=tgC/tgT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_109276061_109276220;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LIMS1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000393314 GT:AD:DP:GQ:PL 0/1:108,44:152:99:641,0,2127
2 109292280 rs7584953 T C 236.29 PASS AB=0.522;AC=1;AF=0.50;AN=2;BaseQRankSum=1.418;DB;DP=23;Dels=0.0;FS=2.43;HRun=0;HaplotypeScore=1.8319;MQ=58.54;MQ0=0;MQRankSum=-1.352;QD=10.27;ReadPosRankSum=1.286;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LIMS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000422797 GT:AD:DP:GQ:PL 0/1:12,11:23:99:266,0,435
2 109389463 rs826580 G A 405.14 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.16;SNPEFF_AMINO_ACID_CHANGE=E1775;SNPEFF_CODON_CHANGE=gaG/gaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_109389324_109389502;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RANBP2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000409491 GT:AD:DP:GQ:PL 1/1:0,13:13:33.11:438,33,0
2 109393522 rs66479531 TG T 711.86 PASS AC=2;AF=1.00;AN=2;DB;DP=24;FS=0.0;HRun=4;HaplotypeScore=66.6164;IndelType=D;MQ=60.45;MQ0=0;QD=29.66;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RANBP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283195 GT:AD:DP:GQ:PL 1/1:3,21:24:63.19:754,63,0
2 109407894 rs11675329 A G 72.76 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.406;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=52.61;MQ0=0;MQRankSum=-0.406;QD=12.13;ReadPosRankSum=0.406;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC138;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295124 GT:AD:DP:GQ:PL 0/1:3,3:6:95.92:103,0,96
2 109411248 rs111234702 GAATAT G 345.97 PASS AC=2;AF=1.00;AN=2;DB;DP=11;FS=0.0;HRun=0;HaplotypeScore=63.0269;IndelType=D;MQ=53.23;MQ0=0;QD=31.45;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC138;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000447782 GT:AD:DP:GQ:PL 1/1:4,7:11:21.07:388,21,0
2 109421621 rs4536612 G A 84.75 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.25;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC138;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295124 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:117,9,0
2 109429146 rs975597 T A 4188.45 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.531;DB;DP=127;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.82;MQ0=0;MQRankSum=-0.279;QD=32.98;ReadPosRankSum=-0.028;SNPEFF_AMINO_ACID_CHANGE=A305;SNPEFF_CODON_CHANGE=gcT/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_109429087_109429164;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC138;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000295124 GT:AD:DP:GQ:PL 1/1:1,126:127:99:4188,277,0
2 109489753 rs71383811 AATG A 640.50 PASS AC=2;AF=1.00;AN=2;DB;DP=15;FS=0.0;HRun=0;HaplotypeScore=75.4405;IndelType=D;MQ=49.96;MQ0=0;QD=42.7;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC138;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295124 GT:AD:DP:GQ:PL 1/1:1,14:15:44.36:683,44,0
2 109490104 rs6737810 A G 702.06 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.43;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC138;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295124 GT:AD:DP:GQ:PL 1/1:0,21:21:57.16:735,57,0
2 109490146 rs11686550 A G 410.49 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC138;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295124 GT:AD:DP:GQ:PL 1/1:0,11:11:33.11:443,33,0
2 109492907 rs14402 A G 87.83 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.28;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC138;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295124 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:120,9,0
2 109513321 rs7607563 C A 455.43 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.95;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EDAR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258443 GT:AD:DP:GQ:PL 1/1:0,12:12:36.12:488,36,0
2 109513654 rs12623957 G A 1115.50 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.87;SNPEFF_AMINO_ACID_CHANGE=C352;SNPEFF_CODON_CHANGE=tgC/tgT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_109510927_109513685;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EDAR;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000258443 GT:AD:DP:GQ:PL 1/1:0,35:35:84.26:1149,84,0
2 109513786 rs3789738 A T 56.66 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=7;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=14.17;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EDAR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258443 GT:AD:DP:GQ:PL 1/1:0,4:4:9.01:89,9,0
2 109522720 rs260639 G A 683.28 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=6.3506;MQ=58.89;MQ0=0;QD=32.54;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EDAR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258443 GT:AD:DP:GQ:PL 1/1:0,20:21:54.17:716,54,0
2 109523038 rs260638 G T 43.95 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=47.12;MQ0=0;QD=21.98;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EDAR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258443 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:75,6,0
2 109526969 rs260632 G A 660.94 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.79;SNPEFF_AMINO_ACID_CHANGE=S250;SNPEFF_CODON_CHANGE=tcC/tcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_109526916_109526988;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EDAR;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000258443 GT:AD:DP:GQ:PL 1/1:0,19:19:51.17:694,51,0
2 109527087 rs260631 G A 313.52 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.84;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EDAR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258443 GT:AD:DP:GQ:PL 1/1:0,9:9:27.07:347,27,0
2 109527373 rs260630 A G 849.46 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.14;MQ0=0;QD=31.46;SNPEFF_AMINO_ACID_CHANGE=F229L;SNPEFF_CODON_CHANGE=Ttc/Ctc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_109527232_109527528;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EDAR;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000376651 GT:AD:DP:GQ:PL 1/1:0,27:27:69.22:882,69,0
2 109988215 rs11680644 C G 37.60 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.72;QD=6.27;ReadPosRankSum=1.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SH3RF3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309415 GT:AD:DP:GQ:PL 0/1:4,2:6:67.59:68,0,138
2 110372192 rs6594048 A G 53.53 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.84;SNPEFF_AMINO_ACID_CHANGE=L42;SNPEFF_CODON_CHANGE=ctA/ctG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_110371911_110376563;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD57;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000356454 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:85,6,0
2 110746204 rs114323162 G C 85.12 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=37.0;MQ0=0;QD=21.28;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=AC013268.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000453019 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:117,9,0
2 110882699 rs2048243 A G 568.06 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.868;DB;DP=49;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8321;MQ=59.05;MQ0=0;MQRankSum=2.078;QD=11.59;ReadPosRankSum=1.455;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NPHP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000493051 GT:AD:DP:GQ:PL 0/1:28,21:49:99:598,0,907
2 110884627 rs72826888 C T 164.88 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=1.067;DB;DP=8;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.572;QD=20.61;ReadPosRankSum=0.572;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NPHP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000493051 GT:AD:DP:GQ:PL 0/1:2,6:8:41.86:195,0,42
2 110889108 rs11240790 C T 41.51 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=51.77;MQ0=0;QD=13.84;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NPHP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000316534 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:73,6,0
2 110902262 rs3752863 G A 82.08 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=20.52;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NPHP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000316534 GT:AD:DP:GQ:PL 0/1:1,3:4:29.19:112,0,29
2 110905664 rs1509417 G A 271.35 PASS AB=0.586;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.705;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.465;QD=9.36;ReadPosRankSum=0.554;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NPHP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000316534 GT:AD:DP:GQ:PL 0/1:17,12:29:99:301,0,607
2 110905743 rs1509416 T A 104.25 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.383;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.365;QD=10.42;ReadPosRankSum=1.447;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NPHP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000316534 GT:AD:DP:GQ:PL 0/1:6,4:10:99:134,0,224
2 110919041 rs3817140 A G 44.35 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.18;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NPHP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000316534 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:76,6,0
2 110919321 rs2271244 C T 224.24 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=0.278;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.597;QD=20.39;ReadPosRankSum=-0.597;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NPHP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000316534 GT:AD:DP:GQ:PL 0/1:4,7:11:99:254,0,131
2 110922064 rs71793890 C CA 41.68 QDFilter2 AB=0.886;AC=1;AF=0.50;AN=2;BaseQRankSum=0.609;DB;DP=117;FS=4.553;HRun=15;HaplotypeScore=662.7971;IndelType=I;MQ=55.81;MQ0=0;MQRankSum=0.961;QD=0.36;ReadPosRankSum=-0.403;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NPHP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000316534 GT:AD:DP:GQ:PL 0/1:92,13:117:80.71:81,0,791
2 110922703 rs11675767 C T 1322.27 PASS AB=0.505;AC=1;AF=0.50;AN=2;BaseQRankSum=1.138;DB;DP=105;Dels=0.0;FS=1.57;HRun=1;HaplotypeScore=0.8321;MQ=59.56;MQ0=0;MQRankSum=-1.336;QD=12.59;ReadPosRankSum=-0.516;SNPEFF_AMINO_ACID_CHANGE=E156;SNPEFF_CODON_CHANGE=gaG/gaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_110922629_110922732;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NPHP1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000355301 GT:AD:DP:GQ:PL 0/1:53,52:105:99:1352,0,1596
2 110935867 rs2271245 A G 278.75 PASS AB=0.313;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.653;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.551;QD=17.42;ReadPosRankSum=-2.021;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NPHP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000316534 GT:AD:DP:GQ:PL 0/1:5,11:16:99:309,0,170
2 111644491 rs72298710 TA T 906.07 PASS AB=0.627;AC=1;AF=0.50;AN=2;BaseQRankSum=4.628;DB;DP=47;FS=0.0;HRun=2;HaplotypeScore=120.3384;IndelType=D;MQ=59.34;MQ0=0;MQRankSum=-0.77;QD=19.28;ReadPosRankSum=-0.878;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACOXL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389811 GT:AD:DP:GQ:PL 0/1:19,28:47:99:945,0,713
2 111644595 rs10188169 C T 98.44 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=1.38;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.72;QD=14.06;ReadPosRankSum=-1.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACOXL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389811 GT:AD:DP:GQ:PL 0/1:2,5:7:44.63:128,0,45
2 111721142 rs111296659 ATGTGTG A 424.50 PASS AC=2;AF=1.00;AN=2;DB;DP=16;FS=0.0;HRun=0;HaplotypeScore=103.3463;IndelType=D;MQ=37.43;MQ0=0;QD=26.53;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACOXL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389811 GT:AD:DP:GQ:PL 1/1:9,7:16:24.08:467,24,0
2 111753449 rs3761707 G C 954.22 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;QD=36.7;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACOXL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389811 GT:AD:DP:GQ:PL 1/1:0,26:26:72.24:987,72,0
2 111907691 rs724710 T C 293.60 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.26;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9997;MQ=58.15;MQ0=0;MQRankSum=-1.045;QD=8.9;ReadPosRankSum=-0.931;SNPEFF_AMINO_ACID_CHANGE=I155;SNPEFF_CODON_CHANGE=atT/atC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_111907621_111907724;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BCL2L11;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000357757 GT:AD:DP:GQ:PL 0/1:18,15:33:99:324,0,616
2 111909247 rs3789068 A G 175.95 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.572;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.572;QD=21.99;ReadPosRankSum=0.572;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BCL2L11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000308659 GT:AD:DP:GQ:PL 0/1:2,6:8:53.74:206,0,54
2 112526866 rs137999262 G A 1190.72 MQFilter40 AB=0.604;AC=1;AF=0.50;AN=2;BaseQRankSum=4.821;DB;DP=187;Dels=0.0;FS=1.505;HRun=0;HaplotypeScore=2.5338;MQ=23.95;MQ0=45;MQRankSum=1.343;QD=6.37;ReadPosRankSum=-0.336;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANAPC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462785 GT:AD:DP:GQ:PL 0/1:113,74:187:99:1221,0,1349
2 112536264 rs76115652 G T 718.68 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=110;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=13.93;MQ0=49;QD=6.53;SNPEFF_AMINO_ACID_CHANGE=I1791;SNPEFF_CODON_CHANGE=atC/atA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_112536252_112536347;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANAPC1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000341068 GT:AD:DP:GQ:PL 1/1:0,110:110:84.03:752,84,0
2 112552427 rs190739040 C T 121.30 MQFilter40;QDFilter2 AB=0.676;AC=1;AF=0.50;AN=2;BaseQRankSum=2.433;DB;DP=68;Dels=0.0;FS=1.987;HRun=0;HaplotypeScore=0.8941;MQ=14.28;MQ0=44;MQRankSum=-2.26;QD=1.78;ReadPosRankSum=0.869;SNPEFF_AMINO_ACID_CHANGE=P1447;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_112552395_112552471;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANAPC1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000341068 GT:AD:DP:GQ:PL 0/1:46,22:68:99:151,0,245
2 112560090 rs142711068 G A 35.03 MQFilter40;QDFilter2 AB=0.694;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.741;DB;DP=49;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=8.51;MQ0=39;MQRankSum=-0.365;QD=0.71;ReadPosRankSum=-0.365;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANAPC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485325 GT:AD:DP:GQ:PL 0/1:34,15:49:38.35:65,0,38
2 112566517 . C T 144.95 MQFilter40;QDFilter2 AB=0.736;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.536;DP=91;Dels=0.0;FS=4.771;HRun=1;HaplotypeScore=0.0;MQ=10.08;MQ0=51;MQRankSum=1.291;QD=1.59;ReadPosRankSum=0.503;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANAPC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341068 GT:AD:DP:GQ:PL 0/1:67,24:91:99:175,0,131
2 112582766 rs60136848 CTT C 1848.29 PASS AB=0.656;AC=1;AF=0.50;AN=2;BaseQRankSum=7.492;DB;DP=84;FS=0.998;HRun=2;HaplotypeScore=264.9911;IndelType=D;MQ=58.82;MQ0=0;MQRankSum=1.133;QD=22.0;ReadPosRankSum=0.184;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANAPC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341068 GT:AD:DP:GQ:PL 0/1:40,44:84:99:1887,0,2166
2 112583476 rs12614297 C T 211.30 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.016;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.77;MQ0=0;MQRankSum=0.811;QD=16.25;ReadPosRankSum=-1.656;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANAPC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341068 GT:AD:DP:GQ:PL 0/1:6,7:13:99:241,0,215
2 112588751 rs7587482 C T 31.18 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=0.198;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=48.1;MQ0=1;MQRankSum=-0.198;QD=3.9;ReadPosRankSum=0.922;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANAPC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341068 GT:AD:DP:GQ:PL 0/1:5,3:8:61.17:61,0,185
2 112589080 rs11675449 G A 51.27 MQFilter40;QDFilter2 AB=0.607;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.159;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9789;MQ=17.13;MQ0=19;MQRankSum=-0.361;QD=1.83;ReadPosRankSum=-0.361;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANAPC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341068 GT:AD:DP:GQ:PL 0/1:17,11:28:81.26:81,0,124
2 112604685 rs71413401 T C 623.03 MQFilter40 AB=0.54;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.511;DB;DP=50;Dels=0.0;FS=12.587;HRun=0;HaplotypeScore=0.734;MQ=36.29;MQ0=4;MQRankSum=1.169;QD=12.46;ReadPosRankSum=-1.079;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANAPC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341068 GT:AD:DP:GQ:PL 0/1:27,23:50:99:653,0,516
2 112605302 rs4848197 C T 166.44 PASS AB=0.688;AC=1;AF=0.50;AN=2;BaseQRankSum=1.862;DB;DP=81;Dels=0.0;FS=19.905;HRun=0;HaplotypeScore=1.9964;MQ=46.93;MQ0=7;MQRankSum=-6.342;QD=2.05;ReadPosRankSum=1.056;SNPEFF_AMINO_ACID_CHANGE=L597;SNPEFF_CODON_CHANGE=ctG/ctA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_112605302_112605442;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANAPC1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000341068 GT:AD:DP:GQ:PL 0/1:55,25:81:99:196,0,1804
2 112605465 rs4848800 T C 1628.67 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.35;MQ0=0;QD=36.19;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANAPC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341068 GT:AD:DP:GQ:PL 1/1:0,45:45:99:1662,123,0
2 112615933 rs72936244 T C 42.45 QDFilter2 AB=0.857;AC=1;AF=0.50;AN=2;BaseQRankSum=2.922;DB;DP=28;Dels=0.0;FS=4.601;HRun=0;HaplotypeScore=0.0;MQ=46.81;MQ0=0;MQRankSum=-1.74;QD=1.52;ReadPosRankSum=1.543;SNPEFF_AMINO_ACID_CHANGE=L436;SNPEFF_CODON_CHANGE=ctA/ctG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_112615883_112615978;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANAPC1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000341068 GT:AD:DP:GQ:PL 0/1:24,4:28:72.44:72,0,781
2 112621199 rs11689168 T C 438.85 PASS AB=0.481;AC=1;AF=0.50;AN=2;BaseQRankSum=0.024;DB;DP=27;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.7887;MQ=56.56;MQ0=0;MQRankSum=0.218;QD=16.25;ReadPosRankSum=1.237;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANAPC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000451367 GT:AD:DP:GQ:PL 0/1:13,14:27:99:469,0,441
2 112622643 rs71414605 A G 214.81 PASS AB=0.474;AC=1;AF=0.50;AN=2;BaseQRankSum=2.572;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=45.33;MQ0=0;MQRankSum=-3.062;QD=11.31;ReadPosRankSum=1.266;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANAPC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000451367 GT:AD:DP:GQ:PL 0/1:9,10:19:99:245,0,313
2 112622650 rs56711676 T C 206.30 PASS AB=0.474;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.082;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=45.33;MQ0=0;MQRankSum=-3.062;QD=10.86;ReadPosRankSum=0.531;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANAPC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000451367 GT:AD:DP:GQ:PL 0/1:9,10:19:99:236,0,323
2 112625575 rs6742515 T C 449.51 PASS AB=0.36;AC=1;AF=0.50;AN=2;BaseQRankSum=0.775;DB;DP=25;Dels=0.0;FS=6.862;HRun=1;HaplotypeScore=0.0;MQ=59.88;MQ0=0;MQRankSum=1.729;QD=17.98;ReadPosRankSum=1.55;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANAPC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000489177 GT:AD:DP:GQ:PL 0/1:9,16:25:99:480,0,229
2 112636685 rs10175926 G A 110.12 MQFilter40 AB=0.385;AC=1;AF=0.50;AN=2;BaseQRankSum=0.143;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=36.58;MQ0=2;MQRankSum=-1.932;QD=8.47;ReadPosRankSum=0.717;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC104651.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000557509 GT:AD:DP:GQ:PL 0/1:5,8:13:99:140,0,172
2 112636761 rs10167739 T C 46.65 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.44;MQ0=0;QD=15.55;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC104651.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000557509 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:78,6,0
2 112686988 rs13027171 G A 1702.23 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.57;MQ0=0;QD=31.52;SNPEFF_AMINO_ACID_CHANGE=S118N;SNPEFF_CODON_CHANGE=aGt/aAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_112686697_112687117;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MERTK;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000295408 GT:AD:DP:GQ:PL 1/1:0,54:54:99:1735,126,0
2 112702647 rs11683694 C T 486.54 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.44;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MERTK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295408 GT:AD:DP:GQ:PL 1/1:0,15:15:39.12:520,39,0
2 112704862 rs7601798 A G 213.54 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.8;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MERTK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295408 GT:AD:DP:GQ:PL 1/1:0,12:12:24.01:247,24,0
2 112705157 rs3761701 T C 1405.48 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.9;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MERTK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295408 GT:AD:DP:GQ:PL 1/1:0,47:47:99:1438,114,0
2 112705185 rs3761700 G T 1109.34 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.4972;MQ=59.3;MQ0=0;QD=33.62;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MERTK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295408 GT:AD:DP:GQ:PL 1/1:0,33:33:84.27:1142,84,0
2 112705290 rs3761699 G A 242.84 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.62;MQ0=0;QD=34.69;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MERTK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295408 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:276,21,0
2 112725684 rs113538397 A ATGTGTG 3310.87 PASS AC=2;AF=1.00;AN=2;DB;DP=46;FS=0.0;HRun=0;HaplotypeScore=183.8198;IndelType=I;MQ=45.45;MQ0=0;QD=71.98;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MERTK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295408 GT:AD:DP:GQ:PL 1/1:7,35:46:99:3311,117,0
2 112732716 rs2138568 A G 92.66 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.89;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MERTK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295408 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:125,9,0
2 112740246 rs1996322 C T 196.23 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.71;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MERTK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295408 GT:AD:DP:GQ:PL 1/1:0,6:6:18.05:229,18,0
2 112740373 rs1996323 G A 1670.81 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.76;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MERTK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295408 GT:AD:DP:GQ:PL 1/1:0,51:51:99:1704,126,0
2 112751737 rs77739234 G A 871.66 PASS AB=0.492;AC=1;AF=0.50;AN=2;BaseQRankSum=4.782;DB;DP=62;Dels=0.0;FS=5.073;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.296;QD=14.06;ReadPosRankSum=1.031;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MERTK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295408 GT:AD:DP:GQ:PL 0/1:30,31:62:99:902,0,706
2 112751928 rs7604639 G A 2846.42 PASS AC=2;AF=1.00;AN=2;DB;DP=78;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.17;MQ0=0;QD=36.49;SNPEFF_AMINO_ACID_CHANGE=R290K;SNPEFF_CODON_CHANGE=aGa/aAa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_112751828_112751981;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MERTK;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000409780 GT:AD:DP:GQ:PL 1/1:0,78:78:99:2879,214,0
2 112752142 rs7592909 A C 1039.04 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;QD=37.11;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MERTK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295408 GT:AD:DP:GQ:PL 1/1:0,28:28:84.26:1072,84,0
2 112754720 rs4848238 A C 2211.96 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.734;MQ=60.0;MQ0=0;QD=36.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MERTK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295408 GT:AD:DP:GQ:PL 1/1:0,61:61:99:2245,175,0
2 112754880 rs3811633 G A 7967.15 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.228;DB;DP=236;Dels=0.0;FS=9.492;HRun=0;HaplotypeScore=4.543;MQ=59.9;MQ0=0;MQRankSum=-0.513;QD=33.76;ReadPosRankSum=0.547;SNPEFF_AMINO_ACID_CHANGE=G121D;SNPEFF_CODON_CHANGE=gGt/gAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_112754873_112754893;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MERTK;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000393237 GT:AD:DP:GQ:PL 1/1:3,232:236:99:7967,493,0
2 112754943 rs3811634 C T 5923.78 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.729;DB;DP=170;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.73;MQ0=0;MQRankSum=0.591;QD=34.85;ReadPosRankSum=0.334;SNPEFF_AMINO_ACID_CHANGE=R142C;SNPEFF_CODON_CHANGE=Cgc/Tgc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_112754895_112754984;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MERTK;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000393237 GT:AD:DP:GQ:PL 1/1:4,166:170:99:5924,342,0
2 112755001 rs2230515 A G 3884.58 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.447;DB;DP=108;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.79;MQ0=0;MQRankSum=-1.698;QD=35.97;ReadPosRankSum=0.216;SNPEFF_AMINO_ACID_CHANGE=I160V;SNPEFF_CODON_CHANGE=Att/Gtt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_112754989_112755053;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MERTK;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000393237 GT:AD:DP:GQ:PL 1/1:2,106:108:99:3885,217,0
2 112755209 rs3811636 G A 112.66 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.17;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MERTK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295408 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:145,12,0
2 112761653 rs4848933 C G 527.05 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.94;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MERTK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473065 GT:AD:DP:GQ:PL 1/1:0,16:16:42.14:560,42,0
2 112765973 rs1131244 A G 1717.21 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.17;MQ0=0;QD=30.66;SNPEFF_AMINO_ACID_CHANGE=S269;SNPEFF_CODON_CHANGE=tcA/tcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_112765960_112766072;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MERTK;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000393237 GT:AD:DP:GQ:PL 1/1:0,56:56:99:1750,141,0
2 112766262 rs10210692 A G 442.61 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.05;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MERTK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295408 GT:AD:DP:GQ:PL 1/1:0,13:13:36.12:476,36,0
2 112776726 rs3811638 A G 278.98 PASS AB=0.091;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.158;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.423;QD=25.36;ReadPosRankSum=-1.107;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MERTK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295408 GT:AD:DP:GQ:PL 0/1:1,10:11:11.14:309,0,11
2 112785775 rs4848958 T C 243.99 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.5;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MERTK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295408 GT:AD:DP:GQ:PL 1/1:0,8:8:21.05:277,21,0
2 112813163 rs10176769 G A 116.81 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.2;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_2_112812800_112813333;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM87B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283206 GT:AD:DP:GQ:PL 1/1:0,4:4:12.03:149,12,0
2 112813391 rs9308665 C G 281.77 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=56.85;MQ0=0;QD=31.31;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM87B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283206 GT:AD:DP:GQ:PL 1/1:0,9:9:27.05:315,27,0
2 112832535 rs77244388 CAAT C 1362.95 PASS AC=2;AF=1.00;AN=2;DB;DP=26;FS=0.0;HRun=0;HaplotypeScore=114.9173;IndelType=D;MQ=58.58;MQ0=0;QD=52.42;SNPEFF_AMINO_ACID_CHANGE=SM166S;SNPEFF_CODON_CHANGE=tcaatg/tcg;SNPEFF_EFFECT=CODON_CHANGE_PLUS_CODON_DELETION;SNPEFF_EXON_ID=exon_2_112832489_112832539;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM87B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000283206 GT:AD:DP:GQ:PL 1/1:0,26:26:78.26:1405,78,0
2 112832684 rs6542026 G A 52.28 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM87B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283206 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
2 112847164 rs11123128 C T 948.78 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.89;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM87B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283206 GT:AD:DP:GQ:PL 1/1:0,28:28:75.24:982,75,0
2 112856165 rs4849007 C A 1347.51 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.42;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM87B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283206 GT:AD:DP:GQ:PL 1/1:0,37:37:99:1381,102,0
2 112858122 rs4848272 C T 628.14 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.9;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM87B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283206 GT:AD:DP:GQ:PL 1/1:0,18:18:48.16:661,48,0
2 112865517 rs7562848 G C 617.93 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.35;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM87B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463427 GT:AD:DP:GQ:PL 1/1:0,17:17:48.15:651,48,0
2 112917102 rs1320360 G C 155.24 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FBLN7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331203 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:188,15,0
2 112945188 rs4848281 T A 315.78 PASS AB=0.409;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.604;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.95;MQ0=0;MQRankSum=0.334;QD=14.35;ReadPosRankSum=-1.402;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FBLN7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000441565 GT:AD:DP:GQ:PL 0/1:9,13:22:99:346,0,292
2 113145814 . C T 438.04 MQFilter40;QDFilter2 AC=2;AF=1.00;AN=2;BaseQRankSum=1.262;DP=242;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=7.74;MQ0=177;MQRankSum=3.116;QD=1.81;ReadPosRankSum=-2.736;SNPEFF_AMINO_ACID_CHANGE=G1430R;SNPEFF_CODON_CHANGE=Gga/Aga;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_113145601_113147824;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGPD8;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000409750 GT:AD:DP:GQ:PL 1/1:165,77:242:46.92:471,47,0
2 113147159 . G A 442.40 MQFilter40;QDFilter2 AB=0.684;AC=1;AF=0.50;AN=2;BaseQRankSum=0.47;DP=250;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=12.5;MQ0=114;MQRankSum=0.415;QD=1.77;ReadPosRankSum=0.195;SNPEFF_AMINO_ACID_CHANGE=P1121;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_113145601_113147824;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RGPD8;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000302558 GT:AD:DP:GQ:PL 0/1:171,79:250:99:472,0,745
2 113300330 rs4849071 G A 122.17 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.54;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POLR1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263331 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:155,12,0
2 113304948 . G A 484.77 PASS AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=4.049;DP=38;Dels=0.0;FS=1.854;HRun=0;HaplotypeScore=0.8667;MQ=58.78;MQ0=0;MQRankSum=-0.219;QD=12.76;ReadPosRankSum=-1.359;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POLR1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000430769 GT:AD:DP:GQ:PL 0/1:20,18:38:99:515,0,547
2 113305150 rs11123139 G C 921.25 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.17;MQ0=0;QD=32.9;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POLR1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000430769 GT:AD:DP:GQ:PL 1/1:0,28:28:75.22:954,75,0
2 113308516 rs2304555 T A 2607.84 PASS AC=2;AF=1.00;AN=2;DB;DP=73;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.72;SNPEFF_AMINO_ACID_CHANGE=T177;SNPEFF_CODON_CHANGE=acT/acA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_113308443_113308579;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POLR1B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000417433 GT:AD:DP:GQ:PL 1/1:0,73:73:99:2641,190,0
2 113308622 rs3816140 C T 2290.41 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.462;DB;DP=64;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.407;QD=35.79;ReadPosRankSum=-0.379;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POLR1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000424062 GT:AD:DP:GQ:PL 1/1:1,63:64:99:2323,135,0
2 113308795 rs7568539 C G 50.05 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.02;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POLR1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000424062 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
2 113309473 rs1545133 C T 1789 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.4;SNPEFF_AMINO_ACID_CHANGE=S239L;SNPEFF_CODON_CHANGE=tCg/tTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_113309352_113309575;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POLR1B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000417433 GT:AD:DP:GQ:PL 1/1:0,52:52:99:1822,138,0
2 113310197 rs35101761 CT C 1004.90 PASS AC=2;AF=1.00;AN=2;DB;DP=49;FS=0.0;HRun=12;HaplotypeScore=132.2955;IndelType=D;MQ=58.8;MQ0=0;QD=20.51;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POLR1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000424062 GT:AD:DP:GQ:PL 1/1:4,44:49:99:1047,136,0
2 113315735 rs71896075 CT C 94.66 PASS AC=2;AF=1.00;AN=2;DB;DP=5;FS=0.0;HRun=5;HaplotypeScore=16.4272;IndelType=D;MQ=62.13;MQ0=0;QD=18.93;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POLR1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263331 GT:AD:DP:GQ:PL 1/1:0,5:5:12.03:136,12,0
2 113321900 rs41280572 T C 1162.51 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.28;MQ0=0;QD=36.33;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POLR1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000498054 GT:AD:DP:GQ:PL 1/1:0,32:32:90.27:1196,90,0
2 113326281 rs6746874 C G 565.92 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.83;MQ0=0;QD=35.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POLR1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263331 GT:AD:DP:GQ:PL 1/1:0,16:16:45.14:599,45,0
2 113326502 rs13010814 C T 782.90 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.19;MQ0=0;QD=34.04;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POLR1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263331 GT:AD:DP:GQ:PL 1/1:0,23:23:60.20:816,60,0
2 113343488 rs3789722 A T 569.39 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.583;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=4.9265;MQ=57.29;MQ0=0;MQRankSum=1.583;QD=21.9;ReadPosRankSum=0.829;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CHCHD5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000324913 GT:AD:DP:GQ:PL 1/1:1,24:26:30.47:602,30,0
2 113344047 rs752992 T C 62.20 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=15.55;SNPEFF_AMINO_ACID_CHANGE=H138;SNPEFF_CODON_CHANGE=caT/caC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_113343777_113346852;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CHCHD5;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000409719 GT:AD:DP:GQ:PL 1/1:0,4:4:9:94,9,0
2 113346413 rs3748024 C G 404.34 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.347;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.042;QD=26.96;ReadPosRankSum=1.042;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CHCHD5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000489052 GT:AD:DP:GQ:PL 1/1:1,14:15:0.55:433,1,0
2 113346512 rs1047652 A C 236.80 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=1.7465;MQ=57.87;MQ0=0;QD=21.53;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CHCHD5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000489052 GT:AD:DP:GQ:PL 1/1:1,10:11:21.07:270,21,0
2 113379340 rs35496875 T TG 1288.90 PASS AC=2;AF=1.00;AN=2;DB;DP=30;FS=0.0;HRun=1;HaplotypeScore=62.9716;IndelType=I;MQ=60.3;MQ0=0;QD=42.96;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=AC079922.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443291 GT:AD:DP:GQ:PL 1/1:0,30:30:90.30:1331,90,0
2 113404708 rs4849091 G A 1186.71 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=59.27;MQ0=0;QD=31.23;SNPEFF_AMINO_ACID_CHANGE=L101;SNPEFF_CODON_CHANGE=ctG/ctA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_113404140_113404739;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC20A1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000272542 GT:AD:DP:GQ:PL 1/1:0,38:38:93.27:1220,93,0
2 113414986 rs3827758 A G 251.25 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.89;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC20A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000492076 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:284,21,0
2 113428008 rs10178142 G T 606.98 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.94;SNPEFF_EFFECT=INTERGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 1/1:0,16:16:48.16:640,48,0
2 113478889 rs2063918 A G 43.33 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.66;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NT5DC4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327581 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:75,6,0
2 113479614 rs13386452 G A 162.82 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=0.529;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.433;QD=9.58;ReadPosRankSum=0.144;SNPEFF_AMINO_ACID_CHANGE=R46H;SNPEFF_CODON_CHANGE=cGc/cAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_113479563_113479680;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NT5DC4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000327581 GT:AD:DP:GQ:PL 0/1:8,9:17:99:193,0,265
2 113479745 rs34781106 AC A 212.76 PASS AC=2;AF=1.00;AN=2;DB;DP=8;FS=0.0;HRun=6;HaplotypeScore=21.0354;IndelType=D;MQ=61.34;MQ0=0;QD=26.6;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NT5DC4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327581 GT:AD:DP:GQ:PL 1/1:0,8:8:24.06:255,24,0
2 113480491 rs10210602 T C 32.79 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=29.0;MQ0=0;QD=16.39;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NT5DC4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484666 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:64,6,0
2 113480556 rs34912983 GC G 268.85 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.196;DB;DP=18;FS=0.0;HRun=4;HaplotypeScore=90.4347;IndelType=D;MQ=52.46;MQ0=0;MQRankSum=1.025;QD=14.94;ReadPosRankSum=1.317;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NT5DC4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484666 GT:AD:DP:GQ:PL 0/1:8,10:18:99:308,0,243
2 113480938 . G GCACACA 499.86 PASS AC=2;AF=1.00;AN=2;DP=9;FS=0.0;HRun=0;HaplotypeScore=72.5023;IndelType=I;MQ=56.47;MQ0=0;QD=55.54;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NT5DC4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484666 GT:AD:DP:GQ:PL 1/1:1,5:9:24.08:542,24,0
2 113481425 . C G 352.32 PASS AB=0.519;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.607;DP=27;Dels=0.0;FS=1.69;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.412;QD=13.05;ReadPosRankSum=-2.111;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NT5DC4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484666 GT:AD:DP:GQ:PL 0/1:14,13:27:99:382,0,458
2 113481439 rs13384583 T A 298.21 PASS AB=0.542;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.854;DB;DP=24;Dels=0.0;FS=3.388;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.116;QD=12.43;ReadPosRankSum=-0.579;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NT5DC4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484666 GT:AD:DP:GQ:PL 0/1:13,11:24:99:328,0,457
2 113481547 rs2063919 A G 44.31 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.16;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NT5DC4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484666 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:76,6,0
2 113482779 rs4849116 A C 467.12 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.19;SNPEFF_AMINO_ACID_CHANGE=Y283S;SNPEFF_CODON_CHANGE=tAc/tCc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_113482751_113482817;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NT5DC4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000327581 GT:AD:DP:GQ:PL 1/1:0,16:16:36.12:500,36,0
2 113484319 rs2138604 G A 1531.22 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=58.99;MQ0=0;QD=33.29;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NT5DC4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470675 GT:AD:DP:GQ:PL 1/1:0,46:46:99:1564,117,0
2 113484353 rs2138605 A G 1158.83 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;QD=33.11;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NT5DC4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470675 GT:AD:DP:GQ:PL 1/1:0,35:35:93.30:1192,93,0
2 113484441 rs2138606 T G 155.98 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.447;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9933;MQ=60.0;MQ0=0;MQRankSum=-0.741;QD=15.6;ReadPosRankSum=-1.036;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NT5DC4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470675 GT:AD:DP:GQ:PL 0/1:4,6:10:96.90:186,0,97
2 113498566 rs3811040 A G 700.62 PASS AB=0.657;AC=1;AF=0.50;AN=2;BaseQRankSum=3.285;DB;DP=70;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9469;MQ=59.73;MQ0=0;MQRankSum=-0.934;QD=10.01;ReadPosRankSum=1.083;SNPEFF_AMINO_ACID_CHANGE=L449S;SNPEFF_CODON_CHANGE=tTa/tCa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_113498395_113498584;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CKAP2L;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000541405 GT:AD:DP:GQ:PL 0/1:46,24:70:99:731,0,1446
2 113503830 rs6542088 C T 222.26 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.78;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NT5DC4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327581 GT:AD:DP:GQ:PL 1/1:0,8:8:21.04:255,21,0
2 113513504 rs4848298 A G 675.83 PASS AB=0.585;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.478;DB;DP=53;Dels=0.0;FS=1.519;HRun=0;HaplotypeScore=0.9999;MQ=59.65;MQ0=0;MQRankSum=0.948;QD=12.75;ReadPosRankSum=0.478;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CKAP2L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461876 GT:AD:DP:GQ:PL 0/1:31,22:53:99:706,0,1052
2 113513825 rs6731822 T C 2886.99 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.392;DB;DP=86;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=5.3968;MQ=59.73;MQ0=0;MQRankSum=2.131;QD=33.57;ReadPosRankSum=-0.42;SNPEFF_AMINO_ACID_CHANGE=I210V;SNPEFF_CODON_CHANGE=Ata/Gta;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_113513554_113514791;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CKAP2L;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000541405 GT:AD:DP:GQ:PL 1/1:2,84:86:99:2920,226,0
2 113514883 rs11311327 AT A 356.48 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=3.48;DB;DP=22;FS=0.0;HRun=1;HaplotypeScore=63.5967;IndelType=D;MQ=60.0;MQ0=0;MQRankSum=-0.46;QD=16.2;ReadPosRankSum=-0.854;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CKAP2L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302450 GT:AD:DP:GQ:PL 0/1:11,11:22:99:396,0,379
2 113532885 rs3783550 G T 368.36 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=1.538;DB;DP=32;Dels=0.0;FS=7.364;HRun=1;HaplotypeScore=1.4942;MQ=59.28;MQ0=0;MQRankSum=0.817;QD=11.51;ReadPosRankSum=-0.247;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263339 GT:AD:DP:GQ:PL 0/1:18,14:32:99:398,0,640
2 113535395 rs2071376 G T 144.28 PASS AB=0.143;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.742;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.742;QD=20.61;ReadPosRankSum=-0.742;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263339 GT:AD:DP:GQ:PL 0/1:1,6:7:23.18:174,0,23
2 113537352 rs2071374 T G 36.18 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=9.04;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263339 GT:AD:DP:GQ:PL 0/1:2,2:4:30.98:66,0,31
2 113540205 rs1609682 G T 137.06 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=0.244;DB;DP=13;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.4972;MQ=60.0;MQ0=0;MQRankSum=0.135;QD=10.54;ReadPosRankSum=-0.689;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263339 GT:AD:DP:GQ:PL 0/1:7,5:13:99:167,0,252
2 113590467 rs1143633 C T 97.07 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=1.599;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.536;QD=8.09;ReadPosRankSum=-1.599;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477398 GT:AD:DP:GQ:PL 0/1:8,4:12:99:127,0,260
2 113593518 rs1143629 G A 93.72 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.43;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263341 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:126,9,0
2 113610950 . T TCATC 549.53 PASS AB=0.756;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.236;DP=34;FS=0.0;HRun=0;HaplotypeScore=142.0543;IndelType=I;MQ=61.57;MQ0=0;MQRankSum=1.175;QD=16.16;ReadPosRankSum=-0.503;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=AC079753.4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000312918 GT:AD:DP:GQ:PL 0/1:23,10:34:99:589,0,738
2 113671303 rs3811045 T C 458.26 PASS AB=0.542;AC=1;AF=0.50;AN=2;BaseQRankSum=0.225;DB;DP=48;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.04;MQ0=0;MQRankSum=-0.075;QD=9.55;ReadPosRankSum=-0.546;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL37;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263326 GT:AD:DP:GQ:PL 0/1:26,22:48:99:488,0,867
2 113671378 rs3811046 G T 498.75 PASS AB=0.554;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.716;DB;DP=59;Dels=0.0;FS=17.404;HRun=0;HaplotypeScore=4.7208;MQ=54.7;MQ0=0;MQRankSum=0.824;QD=8.45;ReadPosRankSum=-0.539;SNPEFF_AMINO_ACID_CHANGE=G31V;SNPEFF_CODON_CHANGE=gGa/gTa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_113671369_113671431;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL37;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000263326 GT:AD:DP:GQ:PL 0/1:31,25:59:99:529,0,868
2 113671410 rs3811047 A G 477.48 PASS AB=0.511;AC=1;AF=0.50;AN=2;BaseQRankSum=0.372;DB;DP=47;Dels=0.0;FS=9.347;HRun=0;HaplotypeScore=5.0802;MQ=52.71;MQ0=0;MQRankSum=-2.096;QD=10.16;ReadPosRankSum=0.394;SNPEFF_AMINO_ACID_CHANGE=T42A;SNPEFF_CODON_CHANGE=Acc/Gcc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_113671369_113671431;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL37;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000263326 GT:AD:DP:GQ:PL 0/1:24,23:47:99:507,0,673
2 113671518 rs3811048 G A 109.04 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.421;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.421;QD=13.63;ReadPosRankSum=-0.421;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL37;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263326 GT:AD:DP:GQ:PL 0/1:4,4:8:99:139,0,138
2 113675080 rs2723186 A G 3840.08 PASS AC=2;AF=1.00;AN=2;DB;DP=120;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.81;MQ0=0;QD=32.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL37;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263326 GT:AD:DP:GQ:PL 1/1:0,120:120:99:3840,322,0
2 113675959 rs2723191 G T 172.82 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.56;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL37;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263326 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:206,15,0
2 113742734 rs7584409 G A 85.12 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.37;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL36G;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259205 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:117,9,0
2 113763463 rs2305152 A C 759.49 PASS AB=0.541;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.119;DB;DP=61;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=-0.205;QD=12.45;ReadPosRankSum=0.083;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL36A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259211 GT:AD:DP:GQ:PL 0/1:33,28:61:99:789,0,992
2 113763575 rs895497 A G 2014.38 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.5784;MQ=59.29;MQ0=0;QD=30.99;SNPEFF_AMINO_ACID_CHANGE=Q12R;SNPEFF_CODON_CHANGE=cAg/cGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_113763551_113763664;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL36A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000259211 GT:AD:DP:GQ:PL 1/1:0,65:65:99:2047,162,0
2 113764419 rs28947168 T C 172.22 PASS AB=0.588;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.025;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.63;MQ0=0;MQRankSum=-1.122;QD=10.13;ReadPosRankSum=-0.634;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL36A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259211 GT:AD:DP:GQ:PL 0/1:10,7:17:99:202,0,367
2 113783570 rs13030063 C T 109.07 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=18.18;ReadPosRankSum=-0.72;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL36B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327407 GT:AD:DP:GQ:PL 0/1:2,4:6:67.23:139,0,67
2 113783909 rs6744874 A T 256.93 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.7;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL36B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327407 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:290,21,0
2 113785727 rs1562304 A G 632.87 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.31;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL36B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259213 GT:AD:DP:GQ:PL 1/1:0,19:19:51.16:666,51,0
2 113785842 rs1006122 G C 115.74 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.93;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL36B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259213 GT:AD:DP:GQ:PL 1/1:0,4:4:12.03:148,12,0
2 113786833 rs3948121 C G 217.18 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.28;MQ0=0;QD=31.03;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL36B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259213 GT:AD:DP:GQ:PL 1/1:0,7:7:18.06:250,18,0
2 113788590 rs3752739 C G 178.75 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.628;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=58.25;MQ0=0;MQRankSum=0.473;QD=11.17;ReadPosRankSum=-1.208;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL36B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259213 GT:AD:DP:GQ:PL 0/1:8,8:16:99:209,0,262
2 113789169 rs2305149 C A 247.86 PASS AB=0.267;AC=1;AF=0.50;AN=2;BaseQRankSum=0.196;DB;DP=15;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=58.45;MQ0=0;MQRankSum=0.196;QD=16.52;ReadPosRankSum=-0.065;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL36B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259213 GT:AD:DP:GQ:PL 0/1:4,11:15:99:278,0,117
2 113789316 rs2305150 C T 460.21 PASS AB=0.561;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.905;DB;DP=41;Dels=0.0;FS=1.298;HRun=0;HaplotypeScore=0.0;MQ=59.44;MQ0=0;MQRankSum=1.458;QD=11.22;ReadPosRankSum=1.432;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_2_113789274_113789343;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL36B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000259213 GT:AD:DP:GQ:PL 0/1:23,18:41:99:490,0,658
2 113818632 rs2251872 G A 87.19 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.8;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL36RN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000346807 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:119,9,0
2 113819614 rs2252007 T C 169.59 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.27;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL36RN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000346807 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:202,15,0
2 113830201 rs3811051 T G 118.73 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=19.79;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL1F10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000337569 GT:AD:DP:GQ:PL 1/1:0,6:6:15.02:151,15,0
2 113832312 rs6761276 T C 4224.33 PASS AC=2;AF=1.00;AN=2;DB;DP=131;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9454;MQ=59.82;MQ0=0;QD=32.25;SNPEFF_AMINO_ACID_CHANGE=I44T;SNPEFF_CODON_CHANGE=aTa/aCa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_113832214_113832427;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL1F10;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000337569 GT:AD:DP:GQ:PL 1/1:0,131:131:99:4224,316,0
2 113832333 rs6743376 C A 3129.20 PASS AC=2;AF=1.00;AN=2;DB;DP=96;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.76;MQ0=0;QD=32.6;SNPEFF_AMINO_ACID_CHANGE=A51D;SNPEFF_CODON_CHANGE=gCc/gAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_113832214_113832427;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL1F10;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000337569 GT:AD:DP:GQ:PL 1/1:0,95:96:99:3162,247,0
2 113877495 rs928940 G T 53.22 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.61;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=IL1RN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463073 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
2 113888900 rs380092 T A 94.07 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.36;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=IL1RN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472292 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:126,9,0
2 113940681 rs3748914 T C 780.32 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.93;SNPEFF_AMINO_ACID_CHANGE=S216;SNPEFF_CODON_CHANGE=agT/agC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_113939923_113941089;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PSD4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000245796 GT:AD:DP:GQ:PL 1/1:0,23:23:63.19:813,63,0
2 113940839 rs4849167 G C 1351.48 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.58;SNPEFF_AMINO_ACID_CHANGE=G269A;SNPEFF_CODON_CHANGE=gGg/gCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_113939923_113941089;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PSD4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000245796 GT:AD:DP:GQ:PL 1/1:0,49:49:99:1384,111,0
2 113942274 rs6761202 C G 389.74 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.43;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PSD4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465917 GT:AD:DP:GQ:PL 1/1:0,11:11:33.09:423,33,0
2 113942903 rs1975535 A C 2666.54 PASS AC=2;AF=1.00;AN=2;DB;DP=80;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=59.42;MQ0=0;QD=33.33;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PSD4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465917 GT:AD:DP:GQ:PL 1/1:0,80:80:99:2700,199,0
2 113943470 rs2241976 A G 359.45 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.68;SNPEFF_AMINO_ACID_CHANGE=G422;SNPEFF_CODON_CHANGE=ggA/ggG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_113943454_113943832;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PSD4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000245796 GT:AD:DP:GQ:PL 1/1:0,11:11:30.09:392,30,0
2 113953401 rs923693 A G 1455.80 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.734;MQ=58.95;MQ0=0;QD=33.09;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PSD4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000245796 GT:AD:DP:GQ:PL 1/1:0,44:44:99:1489,114,0
2 113953657 rs4849169 A C 773.31 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.03;MQ0=0;QD=32.22;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PSD4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000245796 GT:AD:DP:GQ:PL 1/1:0,24:24:63.18:806,63,0
2 113953952 rs4848318 T C 207.34 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=44.1;MQ0=0;QD=20.73;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PSD4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000245796 GT:AD:DP:GQ:PL 1/1:0,10:10:21.06:240,21,0
2 113953973 . A AT 178.66 PASS AC=2;AF=1.00;AN=2;DP=5;FS=0.0;HRun=0;HaplotypeScore=65.9795;IndelType=I;MQ=37.32;MQ0=0;QD=35.73;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PSD4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000245796 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:220,15,0
2 113953974 rs62856760 GACA G 218.20 PASS AC=2;AF=1.00;AN=2;DB;DP=5;FS=0.0;HRun=0;HaplotypeScore=65.6379;IndelType=D;MQ=37.32;MQ0=0;QD=43.64;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PSD4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000245796 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:260,15,0
2 113954879 rs902696 A C 54 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PSD4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000493329 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:85,6,0
2 113955074 rs902695 G A 453.75 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.43;MQ0=0;QD=37.81;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PSD4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000493329 GT:AD:DP:GQ:PL 1/1:0,12:12:36.12:487,36,0
2 113956371 rs2276561 G C 755.31 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.5774;MQ=56.7;MQ0=0;QD=21.58;SNPEFF_AMINO_ACID_CHANGE=T864;SNPEFF_CODON_CHANGE=acG/acC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_113956317_113956461;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PSD4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000441564 GT:AD:DP:GQ:PL 1/1:0,35:35:66.15:788,66,0
2 113994417 rs1110839 G T 47.79 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.89;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PAX8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467778 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
2 114000458 rs902691 C A 276.99 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.62;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PAX8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263334 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:310,24,0
2 114001921 rs13007173 A G 383.56 PASS AB=0.543;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.673;DB;DP=35;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.7273;MQ=58.54;MQ0=0;MQRankSum=0.604;QD=10.96;ReadPosRankSum=-1.846;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PAX8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263334 GT:AD:DP:GQ:PL 0/1:19,16:35:99:414,0,578
2 114004237 rs11678394 G A 980.82 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.69;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PAX8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263334 GT:AD:DP:GQ:PL 1/1:0,30:30:78.22:1014,78,0
2 114020848 rs1466018 T G 259.43 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.43;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PAX8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263334 GT:AD:DP:GQ:PL 1/1:0,8:8:24.07:292,24,0
2 114196427 rs3877318 T A 33.45 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=29.74;MQ0=0;QD=16.73;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CBWD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259199 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:65,6,0
2 114210817 . GT G 247.72 PASS AB=0.73;AC=1;AF=0.50;AN=2;BaseQRankSum=4.259;DP=81;FS=3.829;HRun=11;HaplotypeScore=216.2265;IndelType=D;MQ=36.07;MQ0=15;MQRankSum=-3.512;QD=2.41;ReadPosRankSum=-1.526;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CBWD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259199 GT:AD:DP:GQ:PL 0/1:65,38:81:99:287,0,1121
2 114210921 rs1212279 C T 172.24 MQFilter40 AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=3.02;DB;DP=21;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=30.61;MQ0=0;MQRankSum=0.107;QD=8.2;ReadPosRankSum=-0.817;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CBWD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259199 GT:AD:DP:GQ:PL 0/1:12,9:21:99:202,0,254
2 114220055 rs1210133 T C 2938.70 PASS AB=0.55;AC=1;AF=0.50;AN=2;BaseQRankSum=0.185;DB;DP=211;Dels=0.0;FS=1.73;HRun=0;HaplotypeScore=1.9157;MQ=48.17;MQ0=5;MQRankSum=-0.552;QD=13.93;ReadPosRankSum=1.662;SNPEFF_AMINO_ACID_CHANGE=L180;SNPEFF_CODON_CHANGE=Tta/Cta;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_114219985_114220071;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CBWD2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000433343 GT:AD:DP:GQ:PL 0/1:116,95:211:99:2969,0,3144
2 114242770 rs115309571 C G 182.28 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.271;DB;DP=10;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=47.19;MQ0=0;MQRankSum=0.0;QD=18.23;ReadPosRankSum=-0.48;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CBWD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259199 GT:AD:DP:GQ:PL 0/1:2,8:10:57.16:212,0,57
2 114256759 rs2748031 A G 155.16 MQFilter40 AB=0.567;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.802;DB;DP=30;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=38.03;MQ0=3;MQRankSum=-2.01;QD=5.17;ReadPosRankSum=-0.028;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CBWD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259199 GT:AD:DP:GQ:PL 0/1:17,13:30:99:185,0,491
2 114256840 rs147906017 C T 58.03 QDFilter2 AB=0.756;AC=1;AF=0.50;AN=2;BaseQRankSum=0.853;DB;DP=41;Dels=0.0;FS=1.744;HRun=1;HaplotypeScore=0.0;MQ=41.19;MQ0=3;MQRankSum=-1.204;QD=1.42;ReadPosRankSum=-0.503;SNPEFF_AMINO_ACID_CHANGE=L3;SNPEFF_CODON_CHANGE=Ctg/Ttg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_114256661_114258728;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FOXD4L1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000306507 GT:AD:DP:GQ:PL 0/1:31,10:41:88.02:88,0,827
2 114299607 rs2441488 T C 45.87 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=51.09;MQ0=0;QD=15.29;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AL078621.4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000416105 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:77,6,0
2 114335753 rs145903458 T G 734.93 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=19.32;MQ0=25;QD=13.36;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=MIR1302-3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408128 GT:AD:DP:GQ:PL 1/1:1,53:54:72.15:768,72,0
2 114340628 rs7589328 C T 567.53 MQFilter40 AB=0.687;AC=1;AF=0.50;AN=2;BaseQRankSum=1.424;DB;DP=200;Dels=0.0;FS=3.71;HRun=0;HaplotypeScore=4.3874;MQ=36.76;MQ0=10;MQRankSum=-7.763;QD=2.84;ReadPosRankSum=2.504;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=FAM138B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000432583 GT:AD:DP:GQ:PL 0/1:134,61:200:99:598,0,3371
2 114340663 rs6542147 G A 1090.46 MQFilter40;MQRankSumFilter12_5 AB=0.431;AC=1;AF=0.50;AN=2;BaseQRankSum=0.787;DB;DP=250;DS;Dels=0.0;FS=20.911;HRun=1;HaplotypeScore=2.545;MQ=36.6;MQ0=20;MQRankSum=-12.539;QD=4.36;ReadPosRankSum=-2.486;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=FAM138B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000432583 GT:AD:DP:GQ:PL 0/1:107,141:250:99:1120,0,3124
2 114340677 rs6542148 C A 804.69 MQFilter40 AB=0.52;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.53;DB;DP=248;DS;Dels=0.0;FS=28.929;HRun=0;HaplotypeScore=0.9967;MQ=37.88;MQ0=24;MQRankSum=-11.218;QD=3.24;ReadPosRankSum=-2.611;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=FAM138B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000432583 GT:AD:DP:GQ:PL 0/1:129,119:248:99:835,0,3219
2 114340706 rs2258969 A G 307.67 MQFilter40;QDFilter2 AB=0.483;AC=1;AF=0.50;AN=2;BaseQRankSum=1.604;DB;DP=231;DS;Dels=0.0;FS=21.819;HRun=1;HaplotypeScore=6.0211;MQ=39.92;MQ0=32;MQRankSum=-11.857;QD=1.33;ReadPosRankSum=1.629;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=FAM138B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000432583 GT:AD:DP:GQ:PL 0/1:111,119:231:99:338,0,3426
2 114340787 . A ATTTAACTTT 317.70 PASS AB=0.906;AC=1;AF=0.50;AN=2;BaseQRankSum=1.375;DP=54;FS=0.0;HRun=0;HaplotypeScore=410.9286;IndelType=I;MQ=32.89;MQ0=10;MQRankSum=-1.056;QD=3.31;ReadPosRankSum=-1.375;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=FAM138B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000432583 GT:AD:DP:GQ:PL 0/1:86,10:54:99:357,0,2769
2 114346484 rs150805232 C T 35.63 MQFilter40;QDFilter2 AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=6.54;MQ0=49;QD=0.56;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=WASH2P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326632 GT:AD:DP:GQ:PL 1/1:42,22:64:6.02:67,6,0
2 114346531 rs141249577 A G 77.60 MQFilter40;QDFilter2 AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=10.8;MQ0=35;QD=1.32;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=WASH2P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326632 GT:AD:DP:GQ:PL 1/1:28,31:59:9.03:110,9,0
2 114346567 rs138297005 G A 158.94 MQFilter40 AB=0.419;AC=1;AF=0.50;AN=2;BaseQRankSum=1.337;DB;DP=43;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=16.66;MQ0=13;MQRankSum=0.774;QD=3.7;ReadPosRankSum=1.102;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=WASH2P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326632 GT:AD:DP:GQ:PL 0/1:18,25:43:19.36:189,0,19
2 114346582 rs144421816 A G 266.52 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=19.5;MQ0=5;QD=8.33;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=WASH2P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326632 GT:AD:DP:GQ:PL 1/1:3,29:32:29.92:300,30,0
2 114350105 rs112946271 T G 31.47 MQFilter40 AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=37.0;MQ0=0;MQRankSum=0.727;QD=7.87;ReadPosRankSum=0.727;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=WASH2P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326632 GT:AD:DP:GQ:PL 0/1:1,3:4:30.98:61,0,31
2 114350207 rs75441364 T C 208.51 MQFilter40 AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=0.489;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9995;MQ=38.1;MQ0=0;MQRankSum=-2.088;QD=11.58;ReadPosRankSum=0.666;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=WASH2P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326632 GT:AD:DP:GQ:PL 0/1:10,8:18:99:239,0,337
2 114350216 rs78153617 T G 220.39 MQFilter40 AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=1.022;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9997;MQ=38.1;MQ0=0;MQRankSum=0.489;QD=12.24;ReadPosRankSum=-1.111;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=WASH2P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326632 GT:AD:DP:GQ:PL 0/1:10,8:18:99:250,0,334
2 114350224 rs78363704 C A 158.38 MQFilter40 AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.196;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8667;MQ=38.1;MQ0=0;MQRankSum=-1.122;QD=8.8;ReadPosRankSum=-2.586;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=WASH2P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326632 GT:AD:DP:GQ:PL 0/1:10,8:18:99:188,0,352
2 114350276 rs142013443 G A 401.30 MQFilter40 AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.773;DB;DP=45;Dels=0.0;FS=33.103;HRun=0;HaplotypeScore=0.0;MQ=23.29;MQ0=22;MQRankSum=1.771;QD=8.92;ReadPosRankSum=0.501;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=WASH2P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326632 GT:AD:DP:GQ:PL 0/1:27,18:45:99:431,0,180
2 114350291 rs149240733 G A 143 MQFilter40 AB=0.712;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.033;DB;DP=52;Dels=0.0;FS=28.709;HRun=0;HaplotypeScore=0.0;MQ=21.16;MQ0=29;MQRankSum=-2.439;QD=2.75;ReadPosRankSum=1.303;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=WASH2P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326632 GT:AD:DP:GQ:PL 0/1:37,15:52:99:173,0,458
2 114352071 rs116197531 T C 417.83 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=26.26;MQ0=1;QD=21.99;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=DDX11L2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000437401 GT:AD:DP:GQ:PL 1/1:0,19:19:42.10:451,42,0
2 114352638 . A G 36.18 MQFilter40;QDFilter2 AC=2;AF=1.00;AN=2;BaseQRankSum=-2.256;DP=70;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=6.7;MQ0=57;MQRankSum=2.041;QD=0.52;ReadPosRankSum=-2.041;SNPEFF_EFFECT=SPLICE_SITE_ACCEPTOR;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=WASH2P;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000538033 GT:AD:DP:GQ:PL 1/1:61,9:70:6.02:67,6,0
2 114352806 rs2974807 T C 40.79 MQFilter40;QDFilter2 AB=0.61;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.118;DB;DP=41;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=5.6892;MQ=22.81;MQ0=0;MQRankSum=-1.725;QD=0.99;ReadPosRankSum=0.759;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=DDX11L2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000437401 GT:AD:DP:GQ:PL 0/1:25,16:41:70.78:71,0,470
2 114352820 rs4499433 C T 75.42 MQFilter40 AB=0.629;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.349;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=24.06;MQ0=0;MQRankSum=-0.495;QD=2.15;ReadPosRankSum=1.929;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=DDX11L2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000437401 GT:AD:DP:GQ:PL 0/1:22,13:35:99:105,0,410
2 114353282 . G T 288.54 HaplotypeScoreFilter13;MQFilter40;QDFilter2 AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.708;DP=160;Dels=0.0;FS=1.958;HRun=0;HaplotypeScore=18.9809;MQ=21.08;MQ0=36;MQRankSum=-1.826;QD=1.8;ReadPosRankSum=0.516;SNPEFF_EFFECT=SPLICE_SITE_ACCEPTOR;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=WASH2P;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000542901 GT:AD:DP:GQ:PL 0/1:120,40:160:99:319,0,1727
2 114353296 rs6749445 C T 626.88 HaplotypeScoreFilter13;MQFilter40 AB=0.594;AC=1;AF=0.50;AN=2;BaseQRankSum=4.022;DB;DP=170;Dels=0.0;FS=1.994;HRun=0;HaplotypeScore=17.1237;MQ=20.72;MQ0=36;MQRankSum=-3.342;QD=3.69;ReadPosRankSum=1.382;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=DDX11L2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000437401 GT:AD:DP:GQ:PL 0/1:101,69:170:99:657,0,1288
2 114353351 rs11691138 C T 1118.03 MQFilter40 AB=0.537;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.824;DB;DP=123;Dels=0.0;FS=3.071;HRun=2;HaplotypeScore=0.8321;MQ=28.19;MQ0=32;MQRankSum=6.873;QD=9.09;ReadPosRankSum=1.108;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=DDX11L2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000437401 GT:AD:DP:GQ:PL 0/1:66,57:123:99:1148,0,223
2 114353635 . A G 376.47 MQFilter40 AC=2;AF=1.00;AN=2;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=30.35;MQ0=4;QD=19.81;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=DDX11L2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000437401 GT:AD:DP:GQ:PL 1/1:0,19:19:36.10:409,36,0
2 114356059 rs143600323 G A 808.74 MQFilter40 AB=0.457;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.167;DB;DP=70;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=5.8732;MQ=24.15;MQ0=12;MQRankSum=3.588;QD=11.55;ReadPosRankSum=1.254;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=DDX11L2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000437401 GT:AD:DP:GQ:PL 0/1:32,38:70:99:839,0,134
2 114356302 . T C 96.46 MQFilter40 AC=2;AF=1.00;AN=2;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=13.94;MQ0=11;QD=4.82;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=DDX11L2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000437401 GT:AD:DP:GQ:PL 1/1:0,20:20:12.03:129,12,0
2 114369579 . T C 33.98 MQFilter40;QDFilter2 AB=0.766;AC=1;AF=0.50;AN=2;BaseQRankSum=0.717;DP=111;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=7.98;MQ0=89;MQRankSum=-0.853;QD=0.31;ReadPosRankSum=0.853;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AL078621.11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000391616 GT:AD:DP:GQ:PL 0/1:85,26:111:63.97:64,0,174
2 114369771 rs145906086 C T 975.97 MQFilter40 AC=2;AF=1.00;AN=2;BaseQRankSum=-0.027;DB;DP=70;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.6643;MQ=18.35;MQ0=23;MQRankSum=2.074;QD=13.94;ReadPosRankSum=-0.835;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AL078621.11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000391616 GT:AD:DP:GQ:PL 1/1:10,60:70:98.95:1009,99,0
2 114399145 rs114994309 G A 3013.54 PASS AC=2;AF=1.00;AN=2;DB;DP=89;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9947;MQ=42.56;MQ0=2;QD=33.86;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RABL2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000413545 GT:AD:DP:GQ:PL 1/1:2,87:89:99:3047,235,0
2 114416075 rs13385882 G T 1058.77 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=23.43;MQ0=18;QD=19.25;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP11-395L14.17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272567 GT:AD:DP:GQ:PL 1/1:0,55:55:99:1092,99,0
2 114416091 rs13425227 A G 1036.28 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=26.04;MQ0=15;QD=20.32;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP11-395L14.17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272567 GT:AD:DP:GQ:PL 1/1:0,51:51:96.25:1069,96,0
2 114424974 rs145844216 T G 701.93 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=17.83;MQ0=18;QD=14.93;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AL078621.13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000419351 GT:AD:DP:GQ:PL 1/1:7,40:47:78.08:735,78,0
2 114425425 rs145764632 C A 548.38 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.7359;MQ=27.82;MQ0=4;QD=17.14;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AL078621.13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000419351 GT:AD:DP:GQ:PL 1/1:2,30:32:51.08:581,51,0
2 114425685 rs11682527 G T 176.37 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.23;MQ0=0;QD=22.05;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AL078621.13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000419351 GT:AD:DP:GQ:PL 1/1:0,8:8:15.05:209,15,0
2 114425697 rs145623386 CCA C 223.31 PASS AC=2;AF=1.00;AN=2;DB;DP=6;FS=0.0;HRun=0;HaplotypeScore=43.6053;IndelType=D;MQ=52.19;MQ0=0;QD=31.9;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AL078621.13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000419351 GT:AD:DP:GQ:PL 1/1:0,7:6:18.06:265,18,0
2 114426115 rs80314553 T C 2505.55 MQFilter40 AC=2;AF=1.00;AN=2;BaseQRankSum=-0.807;DB;DP=109;Dels=0.0;FS=4.414;HRun=0;HaplotypeScore=0.0;MQ=34.23;MQ0=17;MQRankSum=-1.711;QD=22.99;ReadPosRankSum=-0.753;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AL078621.13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000419351 GT:AD:DP:GQ:PL 1/1:2,107:109:99:2539,151,0
2 114475652 rs2122096 C G 91.66 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SLC35F5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000245680 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:124,9,0
2 114476582 rs6741521 C A 273.47 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.35;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SLC35F5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485214 GT:AD:DP:GQ:PL 1/1:0,10:10:24.08:306,24,0
2 114480812 rs3835109 A AAAC 2296.32 PASS AC=2;AF=1.00;AN=2;DB;DP=35;FS=0.0;HRun=0;HaplotypeScore=117.6042;IndelType=I;MQ=49.12;MQ0=0;QD=65.61;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SLC35F5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000245680 GT:AD:DP:GQ:PL 1/1:2,33:35:99:2338,105,0
2 114486880 rs3841578 GA G 122.88 PASS AC=2;AF=1.00;AN=2;DB;DP=6;FS=0.0;HRun=9;HaplotypeScore=42.9364;IndelType=D;MQ=60.0;MQ0=0;QD=20.48;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SLC35F5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000245680 GT:AD:DP:GQ:PL 1/1:0,6:6:18.01:165,18,0
2 114486907 rs4849269 T C 517 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.47;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SLC35F5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000245680 GT:AD:DP:GQ:PL 1/1:0,15:15:42.12:550,42,0
2 114491115 rs17683666 A G 118.74 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.95;MQ0=0;QD=29.69;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SLC35F5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000245680 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:151,12,0
2 114492135 rs2305254 C T 585.91 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.78;MQ0=0;QD=30.84;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SLC35F5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000245680 GT:AD:DP:GQ:PL 1/1:0,19:19:51.11:619,51,0
2 114493221 rs10172842 G A 212.54 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.42;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SLC35F5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000245680 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:245,18,0
2 114493524 rs10199704 C T 240.71 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.39;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SLC35F5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000245680 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:274,21,0
2 114500131 rs13004622 C A 337.44 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.49;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SLC35F5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460863 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:370,27,0
2 114501242 rs3748907 T C 4119.11 PASS AC=2;AF=1.00;AN=2;DB;DP=117;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;QD=35.21;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SLC35F5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000245680 GT:AD:DP:GQ:PL 1/1:0,117:117:99:4119,310,0
2 114513386 rs7578249 C T 451.87 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.2;MQ0=0;QD=34.76;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SLC35F5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000245680 GT:AD:DP:GQ:PL 1/1:0,13:13:36.12:485,36,0
2 115822286 rs1509742 T G 87.24 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.45;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.676;QD=8.72;ReadPosRankSum=-0.336;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DPP10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409163 GT:AD:DP:GQ:PL 0/1:5,5:10:99:117,0,148
2 116066984 rs975453 G A 2615.69 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.883;DB;DP=77;Dels=0.0;FS=6.709;HRun=0;HaplotypeScore=0.0;MQ=59.4;MQ0=0;MQRankSum=-1.014;QD=33.97;ReadPosRankSum=-1.014;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DPP10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310323 GT:AD:DP:GQ:PL 1/1:3,74:77:99:2649,181,0
2 116283668 rs984066 G A 103.70 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.937;QD=14.81;ReadPosRankSum=-1.754;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DPP10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000419287 GT:AD:DP:GQ:PL 0/1:3,4:7:99:134,0,105
2 116497479 rs1550854 A G 1694.74 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.56;MQ0=0;QD=31.98;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DPP10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000393146 GT:AD:DP:GQ:PL 1/1:0,53:53:99:1728,126,0
2 116497528 rs1550853 A G 1070.66 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.92;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DPP10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000393146 GT:AD:DP:GQ:PL 1/1:0,29:29:87.24:1104,87,0
2 116510817 rs2053724 G C 534.26 PASS AB=0.476;AC=1;AF=0.50;AN=2;BaseQRankSum=0.441;DB;DP=42;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=-0.944;QD=12.72;ReadPosRankSum=0.516;SNPEFF_AMINO_ACID_CHANGE=A290P;SNPEFF_CODON_CHANGE=Gct/Cct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_116510750_116510873;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DPP10;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000409163 GT:AD:DP:GQ:PL 0/1:20,22:42:99:564,0,644
2 116525960 rs1446495 G A 1052.54 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.29;SNPEFF_AMINO_ACID_CHANGE=V351I;SNPEFF_CODON_CHANGE=Gta/Ata;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_116525873_116525980;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DPP10;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000409163 GT:AD:DP:GQ:PL 1/1:0,29:29:81.25:1086,81,0
2 116539846 rs36082071 GA G 292.74 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=4.308;DB;DP=26;FS=0.0;HRun=6;HaplotypeScore=59.7784;IndelType=D;MQ=61.24;MQ0=0;MQRankSum=0.615;QD=11.26;ReadPosRankSum=-1.179;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DPP10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310323 GT:AD:DP:GQ:PL 0/1:13,13:26:99:332,0,422
2 116548526 rs6735355 A G 84.39 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.13;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DPP10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310323 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:116,9,0
2 116548820 rs3738879 C T 2172.61 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.69;MQ0=0;QD=35.62;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DPP10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310323 GT:AD:DP:GQ:PL 1/1:0,61:61:99:2206,168,0
2 116593675 rs113011508 ATG A 141.49 PASS AC=2;AF=1.00;AN=2;DB;DP=5;FS=0.0;HRun=0;HaplotypeScore=26.1689;IndelType=D;MQ=58.69;MQ0=0;QD=28.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DPP10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310323 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:183,15,0
2 116598546 rs272011 G A 72.30 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.08;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DPP10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473362 GT:AD:DP:GQ:PL 1/1:0,4:4:9.01:104,9,0
2 116599659 rs272010 A T 170.71 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DPP10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310323 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:203,15,0
2 116599927 rs272009 T C 824.22 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.34;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DPP10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000393147 GT:AD:DP:GQ:PL 1/1:0,24:24:72.20:857,72,0
2 118572471 rs3755492 A C 802.15 PASS AB=0.409;AC=1;AF=0.50;AN=2;BaseQRankSum=2.862;DB;DP=44;Dels=0.0;FS=1.729;HRun=3;HaplotypeScore=0.7887;MQ=59.48;MQ0=0;MQRankSum=-0.583;QD=18.23;ReadPosRankSum=0.117;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DDX18;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263239 GT:AD:DP:GQ:PL 0/1:18,26:44:99:832,0,356
2 118575215 rs1052637 C G 3016.46 PASS AB=0.373;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.722;DB;DP=158;Dels=0.0;FS=6.037;HRun=0;HaplotypeScore=4.8093;MQ=59.03;MQ0=0;MQRankSum=-0.311;QD=19.09;ReadPosRankSum=0.849;SNPEFF_AMINO_ACID_CHANGE=T94S;SNPEFF_CODON_CHANGE=aCc/aGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_118575020_118575304;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DDX18;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000263239 GT:AD:DP:GQ:PL 0/1:59,99:158:99:3046,0,1771
2 118575468 rs6737733 C T 167.65 PASS AB=0.611;AC=1;AF=0.50;AN=2;BaseQRankSum=3.442;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9998;MQ=60.0;MQ0=0;MQRankSum=0.272;QD=9.31;ReadPosRankSum=-0.996;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DDX18;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263239 GT:AD:DP:GQ:PL 0/1:11,7:18:99:198,0,344
2 118578691 rs34364967 TA T 506.08 PASS AC=2;AF=1.00;AN=2;DB;DP=20;FS=0.0;HRun=9;HaplotypeScore=48.3983;IndelType=D;MQ=61.07;MQ0=0;QD=25.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DDX18;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263239 GT:AD:DP:GQ:PL 1/1:0,20:20:60.03:548,60,0
2 118582936 rs112417042 A ATAAAG 1810.34 PASS AC=2;AF=1.00;AN=2;DB;DP=22;FS=0.0;HRun=0;HaplotypeScore=73.7097;IndelType=I;MQ=47.99;MQ0=0;QD=82.29;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DDX18;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474694 GT:AD:DP:GQ:PL 1/1:1,19:22:60.21:1852,60,0
2 118583940 rs2303348 C T 239.77 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=0.849;DB;DP=24;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8941;MQ=59.03;MQ0=0;MQRankSum=-0.263;QD=9.99;ReadPosRankSum=0.556;SNPEFF_AMINO_ACID_CHANGE=R203;SNPEFF_CODON_CHANGE=cgC/cgT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_118583845_118583958;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DDX18;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000415038 GT:AD:DP:GQ:PL 0/1:14,10:24:99:270,0,391
2 118688754 rs971754 T C 2158.49 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.7;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC93;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470650 GT:AD:DP:GQ:PL 1/1:0,66:66:99:2191,181,0
2 118694393 rs2303333 C G 607.45 PASS AB=0.447;AC=1;AF=0.50;AN=2;BaseQRankSum=0.294;DB;DP=38;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9947;MQ=60.0;MQ0=0;MQRankSum=-2.114;QD=15.99;ReadPosRankSum=-1.468;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC93;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000319432 GT:AD:DP:GQ:PL 0/1:17,21:38:99:637,0,581
2 118698699 rs2303330 A G 185.23 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.844;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.222;QD=10.29;ReadPosRankSum=-0.044;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC93;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000319432 GT:AD:DP:GQ:PL 0/1:10,8:18:99:215,0,363
2 118704478 rs7580124 T G 937.96 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.3;MQ0=0;QD=28.42;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC93;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460781 GT:AD:DP:GQ:PL 1/1:0,33:33:75.23:971,75,0
2 118704503 rs2303329 A G 331.31 PASS AB=0.478;AC=1;AF=0.50;AN=2;BaseQRankSum=2.062;DB;DP=23;Dels=0.0;FS=3.203;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.446;QD=14.4;ReadPosRankSum=0.092;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC93;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460781 GT:AD:DP:GQ:PL 0/1:11,12:23:99:361,0,376
2 118705570 rs10186396 A G 1501.65 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.5;MQ0=0;QD=32.64;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC93;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460781 GT:AD:DP:GQ:PL 1/1:0,46:46:99:1535,132,0
2 118706879 rs1035598 A G 1924.53 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.63;MQ0=0;QD=30.55;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC93;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460781 GT:AD:DP:GQ:PL 1/1:0,63:63:99:1958,150,0
2 118716166 rs1991102 C T 144.66 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.246;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.87;MQ0=0;MQRankSum=-1.034;QD=13.15;ReadPosRankSum=-0.278;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC93;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000319432 GT:AD:DP:GQ:PL 0/1:4,7:11:99:175,0,128
2 118731573 rs748767 G A 143.01 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.219;DB;DP=10;Dels=0.0;FS=3.522;HRun=0;HaplotypeScore=0.0;MQ=57.66;MQ0=0;MQRankSum=0.361;QD=14.3;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC93;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000319432 GT:AD:DP:GQ:PL 0/1:4,6:10:97.13:173,0,97
2 118732975 rs6722547 T C 502.45 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.45;MQ0=0;QD=33.5;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC93;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000319432 GT:AD:DP:GQ:PL 1/1:0,15:15:42.13:535,42,0
2 118753097 rs17584619 C T 1018.78 PASS AB=0.554;AC=1;AF=0.50;AN=2;BaseQRankSum=4.428;DB;DP=74;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.44;MQ0=0;MQRankSum=2.377;QD=13.77;ReadPosRankSum=0.116;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC93;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000319432 GT:AD:DP:GQ:PL 0/1:41,33:74:99:1049,0,1044
2 118753148 rs10633675 A ATC 1642.57 PASS AC=2;AF=1.00;AN=2;DB;DP=30;FS=0.0;HRun=0;HaplotypeScore=110.9899;IndelType=I;MQ=61.43;MQ0=0;QD=54.75;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC93;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000319432 GT:AD:DP:GQ:PL 1/1:0,30:30:90.31:1685,90,0
2 118753149 . T C 45.87 QDFilter2 AC=2;AF=1.00;AN=2;BaseQRankSum=-2.037;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=61.43;MQ0=0;MQRankSum=2.286;QD=1.53;ReadPosRankSum=-2.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC93;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000319432 GT:AD:DP:GQ:PL 1/1:28,2:30:6.02:77,6,0
2 118758210 rs1559504 A G 111.48 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC93;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000319432 GT:AD:DP:GQ:PL 1/1:0,4:4:12.02:144,12,0
2 118764527 rs4849654 T A 125.99 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.5;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC93;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000319432 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:158,12,0
2 118766024 rs10864966 A G 808.61 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.69;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC93;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000319432 GT:AD:DP:GQ:PL 1/1:1,23:24:66.20:842,66,0
2 118771663 rs12477588 A G 121.73 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.43;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_2_118771530_118771709;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC93;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000319432 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:154,12,0
2 119732042 rs11693199 T C 70.68 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=0.825;DB;DP=11;Dels=0.0;FS=2.632;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.387;QD=6.43;ReadPosRankSum=-0.143;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MARCO;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000412481 GT:AD:DP:GQ:PL 0/1:6,5:11:99:101,0,210
2 119739269 rs56216274 C T 1395.64 PASS AB=0.511;AC=1;AF=0.50;AN=2;BaseQRankSum=5.054;DB;DP=94;Dels=0.0;FS=4.225;HRun=0;HaplotypeScore=0.5784;MQ=57.81;MQ0=0;MQRankSum=0.765;QD=14.85;ReadPosRankSum=-0.023;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MARCO;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327097 GT:AD:DP:GQ:PL 0/1:48,46:94:99:1426,0,1161
2 119748135 rs34563870 TC T 287.35 PASS AB=0.719;AC=1;AF=0.50;AN=2;BaseQRankSum=3.169;DB;DP=46;FS=0.0;HRun=10;HaplotypeScore=226.2482;IndelType=D;MQ=58.45;MQ0=0;MQRankSum=0.606;QD=6.25;ReadPosRankSum=-1.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MARCO;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327097 GT:AD:DP:GQ:PL 0/1:27,18:46:99:326,0,581
2 119749477 rs2304708 T G 94.48 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.9;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MARCO;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327097 GT:AD:DP:GQ:PL 1/1:0,5:5:9.03:127,9,0
2 119749858 rs3765035 A G 129.74 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.95;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MARCO;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327097 GT:AD:DP:GQ:PL 1/1:0,5:5:15.03:162,15,0
2 119751867 rs11678719 C T 224.85 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.278;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.98;MQ0=0;MQRankSum=-1.769;QD=20.44;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MARCO;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327097 GT:AD:DP:GQ:PL 0/1:4,7:11:99:255,0,133
2 119915249 rs7556873 T C 269.45 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.423;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.158;QD=24.5;ReadPosRankSum=-0.474;SNPEFF_AMINO_ACID_CHANGE=V199;SNPEFF_CODON_CHANGE=gtA/gtG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_119915162_119916465;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C1QL2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000272520 GT:AD:DP:GQ:PL 1/1:1,10:11:4.39:300,4,0
2 119988565 rs838100 G A 1308.30 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.45;MQ0=0;QD=31.15;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STEAP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000393106 GT:AD:DP:GQ:PL 1/1:0,42:42:99:1341,102,0
2 120003642 rs838083 C T 615.87 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.79;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STEAP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354888 GT:AD:DP:GQ:PL 1/1:0,20:20:54.17:649,54,0
2 120005840 rs67985074 TC T 284.93 PASS AC=2;AF=1.00;AN=2;DB;DP=15;FS=0.0;HRun=9;HaplotypeScore=43.4024;IndelType=D;MQ=60.72;MQ0=0;QD=19.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STEAP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354888 GT:AD:DP:GQ:PL 1/1:6,9:15:36.02:327,36,0
2 120014985 rs838072 A G 824.35 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.47;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STEAP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354888 GT:AD:DP:GQ:PL 1/1:0,22:22:63.21:857,63,0
2 120059895 rs16744 G GGAAA 508.37 PASS AC=2;AF=1.00;AN=2;DB;DP=7;FS=0.0;HRun=0;HaplotypeScore=19.0219;IndelType=I;MQ=35.14;MQ0=0;QD=72.62;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf76;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409523 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:550,21,0
2 120059988 rs1890 T C 855.09 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.04;MQ0=0;QD=35.63;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf76;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409523 GT:AD:DP:GQ:PL 1/1:0,24:24:66.21:888,66,0
2 120060082 rs1052500 T C 1194.77 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.11;MQ0=0;QD=32.29;SNPEFF_AMINO_ACID_CHANGE=K116R;SNPEFF_CODON_CHANGE=aAg/aGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_120059804_120060124;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf76;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000334816 GT:AD:DP:GQ:PL 1/1:0,37:37:93.30:1228,93,0
2 120078778 rs6542522 T C 1600.18 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.34;SNPEFF_AMINO_ACID_CHANGE=I46V;SNPEFF_CODON_CHANGE=Atc/Gtc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_120078730_120078780;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf76;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000334816 GT:AD:DP:GQ:PL 1/1:0,48:48:99:1633,120,0
2 120123941 . G T 37.15 PASS AB=0.769;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.085;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=54.44;MQ0=0;MQRankSum=-0.761;QD=2.86;ReadPosRankSum=2.282;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf76;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334816 GT:AD:DP:GQ:PL 0/1:10,3:13:67.14:67,0,346
2 120125029 rs2084202 A G 410.50 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.35;MQ0=0;QD=31.58;SNPEFF_AMINO_ACID_CHANGE=R20;SNPEFF_CODON_CHANGE=cgA/cgG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_120124979_120125104;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DBI;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000535617 GT:AD:DP:GQ:PL 1/1:0,13:13:36.09:443,36,0
2 120125053 rs3731608 C G 470.37 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=56.85;MQ0=0;QD=31.36;SNPEFF_AMINO_ACID_CHANGE=Y28*;SNPEFF_CODON_CHANGE=taC/taG;SNPEFF_EFFECT=STOP_GAINED;SNPEFF_EXON_ID=exon_2_120124979_120125104;SNPEFF_FUNCTIONAL_CLASS=NONSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DBI;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000535617 GT:AD:DP:GQ:PL 1/1:0,15:15:42.12:503,42,0
2 120125058 rs3731607 C T 502.29 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.71;MQ0=0;QD=27.9;SNPEFF_AMINO_ACID_CHANGE=A30V;SNPEFF_CODON_CHANGE=gCc/gTc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_120124979_120125104;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DBI;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000535617 GT:AD:DP:GQ:PL 1/1:0,18:18:45.12:535,45,0
2 120125363 rs3091405 C A 712.73 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.62;MQ0=0;QD=33.94;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DBI;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000311521 GT:AD:DP:GQ:PL 1/1:1,20:21:57.17:746,57,0
2 120125384 rs3091406 G A 956.06 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.27;MQ0=0;QD=35.41;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DBI;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000311521 GT:AD:DP:GQ:PL 1/1:0,27:27:75.24:989,75,0
2 120125689 rs8192503 A T 2559.19 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.031;DB;DP=74;Dels=0.0;FS=10.165;HRun=1;HaplotypeScore=0.9734;MQ=59.38;MQ0=0;MQRankSum=-0.152;QD=34.58;ReadPosRankSum=-0.118;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DBI;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000311521 GT:AD:DP:GQ:PL 1/1:2,72:74:99:2592,119,0
2 120125910 rs2276596 C A 1192.16 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.13;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DBI;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000311521 GT:AD:DP:GQ:PL 1/1:0,33:33:90.30:1225,90,0
2 120125936 rs2244135 T C 979.12 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9469;MQ=60.0;MQ0=0;QD=33.76;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DBI;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000311521 GT:AD:DP:GQ:PL 1/1:0,29:29:75.24:1012,75,0
2 120128482 rs956309 C T 277.06 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.05;MQ0=0;QD=34.63;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DBI;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000492375 GT:AD:DP:GQ:PL 1/1:0,8:8:24.07:310,24,0
2 120129841 rs8192506 A G 887.69 PASS AB=0.433;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.942;DB;DP=67;Dels=0.0;FS=2.074;HRun=0;HaplotypeScore=1.5317;MQ=60.0;MQ0=0;MQRankSum=-0.044;QD=13.25;ReadPosRankSum=0.196;SNPEFF_AMINO_ACID_CHANGE=M113V;SNPEFF_CODON_CHANGE=Atg/Gtg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_120129821_120130116;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DBI;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000535617 GT:AD:DP:GQ:PL 0/1:29,38:67:99:918,0,896
2 120187344 rs11123523 A G 113.64 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.41;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM37;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000306406 GT:AD:DP:GQ:PL 1/1:0,4:4:12.01:146,12,0
2 120194651 rs3217464 A AGTGTGC 6365.88 PASS AC=2;AF=1.00;AN=2;DB;DP=58;FS=0.0;HRun=0;HaplotypeScore=247.1653;IndelType=I;MQ=36.16;MQ0=0;QD=109.76;SNPEFF_AMINO_ACID_CHANGE=T70SVP;SNPEFF_CODON_CHANGE=acg/aGTGTGCcg;SNPEFF_EFFECT=CODON_CHANGE_PLUS_CODON_INSERTION;SNPEFF_EXON_ID=exon_2_120194465_120196096;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM37;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000306406 GT:AD:DP:GQ:PL 1/1:10,40:58:99:6366,175,0
2 120195182 rs2278565 C G 150.97 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.16;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCTR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000019103 GT:AD:DP:GQ:PL 1/1:0,6:6:15.04:184,15,0
2 120197670 rs1042656 G A 69.93 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=1.159;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=0.729;QD=7.77;ReadPosRankSum=-0.361;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM37;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000306406 GT:AD:DP:GQ:PL 0/1:5,4:9:99:100,0,163
2 120199140 rs1530100 A G 570.84 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.71;SNPEFF_AMINO_ACID_CHANGE=N392;SNPEFF_CODON_CHANGE=aaT/aaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_120199134_120199175;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCTR;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000019103 GT:AD:DP:GQ:PL 1/1:0,18:18:45.15:604,45,0
2 120204123 rs59283690 T C 92.13 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.71;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCTR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000019103 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:124,9,0
2 120204617 rs6748349 G A 47.34 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.67;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCTR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000019103 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
2 120204630 rs2276595 T A 49.41 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.7;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCTR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000019103 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
2 120209689 rs2587692 A G 238.03 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=56.62;MQ0=0;QD=34.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCTR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000019103 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:271,21,0
2 120219690 rs893610 C T 80.31 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=20.08;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCTR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000019103 GT:AD:DP:GQ:PL 0/1:1,3:4:18.55:110,0,19
2 120221481 rs2253872 T C 53.16 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCTR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000019103 GT:AD:DP:GQ:PL 1/1:0,2:3:6.02:84,6,0
2 120221585 rs2253870 G A 178.64 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.387;DB;DP=11;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.387;QD=16.24;ReadPosRankSum=-0.466;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCTR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000019103 GT:AD:DP:GQ:PL 0/1:5,6:11:99:209,0,174
2 120221861 rs57757577 G A 181.54 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.213;DB;DP=30;Dels=0.0;FS=2.674;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.131;QD=6.05;ReadPosRankSum=-0.407;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCTR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000019103 GT:AD:DP:GQ:PL 0/1:21,9:30:99:212,0,699
2 120221984 rs2579647 A C 63.13 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.04;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCTR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000019103 GT:AD:DP:GQ:PL 1/1:0,3:3:9.02:95,9,0
2 120230901 rs2579640 C T 129.40 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.35;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCTR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000019103 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:162,12,0
2 120230998 rs2579641 G A 370.20 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.65;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCTR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000019103 GT:AD:DP:GQ:PL 1/1:0,11:11:30.10:403,30,0
2 120231165 rs2587701 T C 744.94 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.95;MQ0=0;QD=33.86;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCTR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000019103 GT:AD:DP:GQ:PL 1/1:0,22:22:63.19:778,63,0
2 120236332 rs41279776 A C 125.22 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=1.408;DB;DP=11;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.9665;MQ=60.0;MQ0=0;MQRankSum=-1.031;QD=11.38;ReadPosRankSum=-0.466;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCTR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000019103 GT:AD:DP:GQ:PL 0/1:5,6:11:99:155,0,175
2 120362407 rs1568540 C T 2018.93 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.81;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC069154.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475569 GT:AD:DP:GQ:PL 1/1:0,58:58:99:2052,156,0
2 120362897 rs1521914 T A 771.85 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.99;MQ0=0;QD=33.56;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC069154.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475569 GT:AD:DP:GQ:PL 1/1:0,23:23:63.18:805,63,0
2 120366057 rs11398750 G GT 1683.35 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.348;DB;DP=79;FS=0.0;HRun=12;HaplotypeScore=298.5482;IndelType=I;MQ=57.36;MQ0=0;MQRankSum=-0.129;QD=21.31;ReadPosRankSum=0.166;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC069154.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475569 GT:AD:DP:GQ:PL 1/1:13,60:79:68.18:1725,68,0
2 120369300 rs10864986 T C 984.17 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9973;MQ=60.0;MQ0=0;QD=28.95;SNPEFF_AMINO_ACID_CHANGE=V145;SNPEFF_CODON_CHANGE=gtT/gtC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_120369229_120369318;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC069154.2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000295220 GT:AD:DP:GQ:PL 1/1:0,34:34:78.25:1017,78,0
2 120385094 rs72249539 GATATAT G 334.93 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.747;DB;DP=15;FS=0.0;HRun=0;HaplotypeScore=106.2961;IndelType=D;MQ=45.07;MQ0=0;MQRankSum=0.747;QD=22.33;ReadPosRankSum=0.747;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC069154.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295220 GT:AD:DP:GQ:PL 1/1:7,6:15:19.62:377,20,0
2 120387637 rs12711931 G C 280.68 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.09;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC069154.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295220 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:314,24,0
2 120387640 rs2272056 T C 63.89 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.937;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=9.13;ReadPosRankSum=1.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC069154.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295220 GT:AD:DP:GQ:PL 0/1:4,3:7:93.88:94,0,137
2 120388412 rs2272058 G A 3416.28 PASS AC=2;AF=1.00;AN=2;DB;DP=97;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.8533;MQ=59.52;MQ0=0;QD=35.22;SNPEFF_AMINO_ACID_CHANGE=V351I;SNPEFF_CODON_CHANGE=Gtc/Atc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_120388343_120388477;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC069154.2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000295220 GT:AD:DP:GQ:PL 1/1:0,97:97:99:3416,256,0
2 120395657 rs939770 A G 121.83 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.46;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC069154.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295220 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:154,12,0
2 120396174 rs939771 C T 84.28 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.95;MQ0=0;QD=21.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC069154.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295220 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:116,9,0
2 120404629 rs138582717 AT A 319.42 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.164;DB;DP=40;FS=4.031;HRun=14;HaplotypeScore=194.9029;IndelType=D;MQ=57.66;MQ0=0;MQRankSum=1.473;QD=7.99;ReadPosRankSum=1.146;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC069154.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295220 GT:AD:DP:GQ:PL 1/1:15,24:40:11.53:361,12,0
2 120409430 rs1521912 A G 124.53 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.13;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC069154.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295220 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:157,12,0
2 120414083 rs6761357 C T 510.08 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.43;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC069154.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464578 GT:AD:DP:GQ:PL 1/1:0,14:14:39.13:543,39,0
2 120438523 rs13011768 A G 1727.44 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.55;MQ0=0;QD=33.87;SNPEFF_AMINO_ACID_CHANGE=I32V;SNPEFF_CODON_CHANGE=Atc/Gtc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_120438408_120439694;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM177;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000272521 GT:AD:DP:GQ:PL 1/1:0,51:51:99:1760,132,0
2 120438696 rs939777 A G 7593.25 PASS AC=2;AF=1.00;AN=2;DB;DP=226;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.9627;MQ=59.69;MQ0=0;QD=33.6;SNPEFF_AMINO_ACID_CHANGE=Q89;SNPEFF_CODON_CHANGE=caA/caG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_120438408_120439694;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM177;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000272521 GT:AD:DP:GQ:PL 1/1:0,226:226:99:7593,563,0
2 120439230 rs1983406 C G 1494.36 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.5;SNPEFF_AMINO_ACID_CHANGE=D234E;SNPEFF_CODON_CHANGE=gaC/gaG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_120439135_120439242;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM177;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000415646 GT:AD:DP:GQ:PL 1/1:0,49:49:99:1527,117,0
2 120439459 rs4849797 C A 534.82 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.85;MQ0=0;QD=35.65;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM177;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000415646 GT:AD:DP:GQ:PL 1/1:0,15:15:42.14:568,42,0
2 120443014 rs2177095 T C 81.64 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.21;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM177;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272521 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:114,9,0
2 120443443 rs939778 A G 747.73 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.39;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM177;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272521 GT:AD:DP:GQ:PL 1/1:0,20:20:57.19:781,57,0
2 120634767 rs60021522 A AT 214.84 PASS AB=0.735;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.16;DB;DP=25;FS=0.0;HRun=7;HaplotypeScore=52.8808;IndelType=I;MQ=60.43;MQ0=0;MQRankSum=-1.133;QD=8.59;ReadPosRankSum=-1.371;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263708 GT:AD:DP:GQ:PL 0/1:16,9:25:99:254,0,361
2 120635205 rs3768914 G A 246.69 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.489;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.555;QD=13.7;ReadPosRankSum=-0.666;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263708 GT:AD:DP:GQ:PL 0/1:10,8:18:99:277,0,356
2 120643280 rs74866537 G GT 497.47 PASS AB=0.691;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.538;DB;DP=38;FS=0.0;HRun=6;HaplotypeScore=85.2419;IndelType=I;MQ=60.0;MQ0=0;MQRankSum=0.875;QD=13.09;ReadPosRankSum=0.05;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485247 GT:AD:DP:GQ:PL 0/1:21,17:38:99:537,0,446
2 120658143 rs3106241 G T 37.36 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.231;QD=7.47;ReadPosRankSum=-1.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263708 GT:AD:DP:GQ:PL 0/1:3,2:5:67.36:67,0,110
2 120703842 rs2289581 A G 279.09 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.949;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=-1.282;QD=10.73;ReadPosRankSum=0.41;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263708 GT:AD:DP:GQ:PL 0/1:13,13:26:99:309,0,477
2 120704164 rs3214717 A AT 987.90 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=6.669;DB;DP=80;FS=0.0;HRun=1;HaplotypeScore=320.7111;IndelType=I;MQ=60.25;MQ0=0;MQRankSum=1.295;QD=12.35;ReadPosRankSum=0.086;SNPEFF_EFFECT=FRAME_SHIFT;SNPEFF_EXON_ID=exon_2_120704094_120704246;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPN4;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000431283 GT:AD:DP:GQ:PL 0/1:48,32:80:99:1027,0,1543
2 120714401 rs76723123 CT C 33.96 QDFilter2 AB=0.775;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.488;DB;DP=107;FS=7.371;HRun=16;HaplotypeScore=700.8337;IndelType=D;MQ=52.99;MQ0=0;MQRankSum=-0.813;QD=0.32;ReadPosRankSum=1.404;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263708 GT:AD:DP:GQ:PL 0/1:69,29:107:72.99:73,0,724
2 120718322 rs12618050 A G 450.28 PASS AB=0.528;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.254;DB;DP=36;Dels=0.0;FS=2.27;HRun=0;HaplotypeScore=0.0;MQ=59.36;MQ0=0;MQRankSum=-0.444;QD=12.51;ReadPosRankSum=-0.063;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263708 GT:AD:DP:GQ:PL 0/1:19,17:36:99:480,0,645
2 120718672 rs6737776 T G 236.38 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263708 GT:AD:DP:GQ:PL 1/1:0,8:8:21.07:269,21,0
2 120725704 rs10194955 A G 212.11 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.3;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469511 GT:AD:DP:GQ:PL 1/1:0,7:7:18.06:245,18,0
2 120734737 rs3832049 C CA 571 PASS AB=0.671;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.85;DB;DP=47;FS=3.575;HRun=10;HaplotypeScore=116.1917;IndelType=I;MQ=60.3;MQ0=0;MQRankSum=0.985;QD=12.15;ReadPosRankSum=-0.328;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263708 GT:AD:DP:GQ:PL 0/1:23,23:47:99:610,0,302
2 120776972 rs3216703 TG T 332.67 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=2.657;DB;DP=16;FS=0.0;HRun=1;HaplotypeScore=40.9295;IndelType=D;MQ=61.34;MQ0=0;MQRankSum=0.054;QD=20.79;ReadPosRankSum=-0.054;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPB41L5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263713 GT:AD:DP:GQ:PL 0/1:6,10:16:99:372,0,240
2 120830815 rs3738970 A G 882.26 PASS AB=0.522;AC=1;AF=0.50;AN=2;BaseQRankSum=0.646;DB;DP=67;Dels=0.0;FS=2.143;HRun=0;HaplotypeScore=0.9469;MQ=59.86;MQ0=0;MQRankSum=1.387;QD=13.17;ReadPosRankSum=0.722;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPB41L5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263713 GT:AD:DP:GQ:PL 0/1:35,32:67:99:912,0,1084
2 120851010 rs1599893 G T 420.76 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.25;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPB41L5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263713 GT:AD:DP:GQ:PL 1/1:0,11:11:33.11:454,33,0
2 120885310 rs1034489 G A 1123.35 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.1;DB;DP=90;Dels=0.0;FS=2.741;HRun=2;HaplotypeScore=1.9862;MQ=60.0;MQ0=0;MQRankSum=1.368;QD=12.48;ReadPosRankSum=0.166;SNPEFF_AMINO_ACID_CHANGE=A462T;SNPEFF_CODON_CHANGE=Gca/Aca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_120885264_120885427;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPB41L5;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000263713 GT:AD:DP:GQ:PL 0/1:50,40:90:99:1153,0,1568
2 120889173 rs3738968 G C 780.35 PASS AB=0.473;AC=1;AF=0.50;AN=2;BaseQRankSum=2.294;DB;DP=56;Dels=0.02;FS=1.301;HRun=2;HaplotypeScore=4.9642;MQ=57.98;MQ0=0;MQRankSum=-0.84;QD=13.45;ReadPosRankSum=0.407;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPB41L5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461128 GT:AD:DP:GQ:PL 0/1:26,29:56:99:810,0,864
2 120900405 rs11123544 G A 116.73 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.18;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPB41L5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263713 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:149,12,0
2 120900736 rs75582263 T C 570.14 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.699;DB;DP=51;Dels=0.0;FS=2.512;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.019;QD=11.18;ReadPosRankSum=-0.398;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPB41L5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263713 GT:AD:DP:GQ:PL 0/1:24,27:51:99:600,0,716
2 120918585 rs12617570 A C 783.42 PASS AB=0.491;AC=1;AF=0.50;AN=2;BaseQRankSum=1.445;DB;DP=57;Dels=0.0;FS=1.514;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.062;QD=13.74;ReadPosRankSum=0.279;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPB41L5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263713 GT:AD:DP:GQ:PL 0/1:28,29:57:99:813,0,1005
2 120918726 rs7584816 T C 134.23 PASS AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=22.37;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPB41L5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263713 GT:AD:DP:GQ:PL 0/1:1,5:6:17.20:164,0,17
2 121036333 rs11545293 G A 577.78 PASS AB=0.528;AC=1;AF=0.50;AN=2;BaseQRankSum=0.321;DB;DP=53;Dels=0.0;FS=1.109;HRun=0;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=0.064;QD=10.9;ReadPosRankSum=1.074;SNPEFF_AMINO_ACID_CHANGE=T31;SNPEFF_CODON_CHANGE=acG/acA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_121036194_121036354;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RALB;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000272519 GT:AD:DP:GQ:PL 0/1:28,25:53:99:608,0,813
2 121036385 rs62168280 T G 314.57 PASS AB=0.561;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.095;DB;DP=41;Dels=0.0;FS=1.681;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.095;QD=7.67;ReadPosRankSum=-0.639;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RALB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272519 GT:AD:DP:GQ:PL 0/1:23,18:41:99:345,0,683
2 121036386 rs12711940 T A 313.52 PASS AB=0.55;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.651;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.15;QD=7.65;ReadPosRankSum=-0.693;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RALB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272519 GT:AD:DP:GQ:PL 0/1:22,18:40:99:344,0,688
2 121043403 rs4091515 G A 235.53 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.804;DB;DP=26;Dels=0.0;FS=3.979;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=-0.582;QD=9.06;ReadPosRankSum=0.971;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RALB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272519 GT:AD:DP:GQ:PL 0/1:16,10:26:99:266,0,552
2 121050560 rs2278505 A G 81.49 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=20.37;ReadPosRankSum=-0.727;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RALB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000412383 GT:AD:DP:GQ:PL 0/1:1,3:4:29.72:111,0,30
2 121708663 rs10864866 A G 195.64 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.62;MQ0=0;QD=27.95;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GLI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000314490 GT:AD:DP:GQ:PL 1/1:0,7:7:21.04:229,21,0
2 121709091 rs11681136 G A 243.36 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.77;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GLI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000482119 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:276,21,0
2 121713022 rs6718382 C G 226.49 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.05;MQ0=0;QD=28.31;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GLI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472722 GT:AD:DP:GQ:PL 1/1:0,8:8:21.06:259,21,0
2 121713030 rs12614482 G A 189.75 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.62;MQ0=0;QD=27.11;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GLI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472722 GT:AD:DP:GQ:PL 1/1:0,7:7:18.04:223,18,0
2 121713041 rs12617878 T C 131.62 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.91;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GLI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472722 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:164,12,0
2 121726447 rs2592595 G A 1496.12 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.97;MQ0=0;QD=32.52;SNPEFF_AMINO_ACID_CHANGE=G130S;SNPEFF_CODON_CHANGE=Ggc/Agc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_121726290_121726491;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GLI2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000360874 GT:AD:DP:GQ:PL 1/1:0,46:46:99:1529,117,0
2 121727842 rs1867906 G A 52.28 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GLI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000314490 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
2 121729360 rs2592592 T C 83.65 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.91;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GLI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360874 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:116,9,0
2 121729490 rs2592591 C T 1210.83 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=59.39;MQ0=0;QD=31.86;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GLI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360874 GT:AD:DP:GQ:PL 1/1:0,38:38:93.28:1244,93,0
2 121729686 rs2592590 T C 475.97 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.73;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GLI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360874 GT:AD:DP:GQ:PL 1/1:0,15:15:39.13:509,39,0
2 121730138 rs3106962 C G 905.50 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.83;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GLI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360874 GT:AD:DP:GQ:PL 1/1:0,26:26:72.22:939,72,0
2 121730478 rs280201 G T 85.86 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.62;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GLI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360874 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:118,9,0
2 121732355 rs3835754 AGT A 184.03 PASS AC=2;AF=1.00;AN=2;DB;DP=8;FS=0.0;HRun=0;HaplotypeScore=34.9157;IndelType=D;MQ=57.05;MQ0=0;QD=23.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GLI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360874 GT:AD:DP:GQ:PL 1/1:1,6:8:20.89:226,21,0
2 121740190 rs1968619 C T 419.19 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.33;MQ0=0;QD=29.94;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GLI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000314490 GT:AD:DP:GQ:PL 1/1:0,14:14:36.10:452,36,0
2 121740194 rs1530580 T G 387.42 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=58.2;MQ0=0;QD=29.8;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GLI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000314490 GT:AD:DP:GQ:PL 1/1:0,13:13:36.10:420,36,0
2 121740220 rs113032961 G A 204.52 PASS AB=0.579;AC=1;AF=0.50;AN=2;BaseQRankSum=2.069;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9159;MQ=58.78;MQ0=0;MQRankSum=-1.01;QD=10.76;ReadPosRankSum=-2.261;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GLI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000314490 GT:AD:DP:GQ:PL 0/1:11,8:19:99:235,0,254
2 121740493 rs41279790 G A 493.17 PASS AB=0.406;AC=1;AF=0.50;AN=2;BaseQRankSum=0.36;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=59.42;MQ0=0;MQRankSum=0.021;QD=15.41;ReadPosRankSum=-1.545;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GLI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000314490 GT:AD:DP:GQ:PL 0/1:13,19:32:99:523,0,364
2 121740505 rs280196 C T 872.89 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=59.36;MQ0=0;QD=30.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GLI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000314490 GT:AD:DP:GQ:PL 1/1:1,26:29:66.22:906,66,0
2 121740609 rs72293080 CTT C 325.67 PASS AC=2;AF=1.00;AN=2;DB;DP=9;FS=0.0;HRun=3;HaplotypeScore=68.9802;IndelType=D;MQ=60.0;MQ0=0;QD=36.19;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GLI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000314490 GT:AD:DP:GQ:PL 1/1:1,8:9:24.08:368,24,0
2 121741811 rs3820720 C T 139.25 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=51.77;MQ0=0;QD=15.47;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GLI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000314490 GT:AD:DP:GQ:PL 1/1:0,9:9:15.04:172,15,0
2 121741843 rs3820719 A G 575 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=56.04;MQ0=0;QD=23.96;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GLI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000314490 GT:AD:DP:GQ:PL 1/1:0,24:24:54.13:608,54,0
2 121744225 rs2276553 A G 668.34 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.66;MQ0=0;QD=33.42;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GLI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000435313 GT:AD:DP:GQ:PL 1/1:0,20:20:54.17:701,54,0
2 121746956 rs3738880 G T 596.98 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.12;SNPEFF_AMINO_ACID_CHANGE=A1156S;SNPEFF_CODON_CHANGE=Gcc/Tcc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_121745784_121750228;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GLI2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000361492 GT:AD:DP:GQ:PL 1/1:0,17:17:48.14:630,48,0
2 121747406 rs12711538 G A 386.90 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.04;MQ0=0;QD=32.24;SNPEFF_AMINO_ACID_CHANGE=D1306N;SNPEFF_CODON_CHANGE=Gat/Aat;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_121745784_121750228;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GLI2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000361492 GT:AD:DP:GQ:PL 1/1:0,12:12:33.10:420,33,0
2 121747429 rs10167980 A G 428.71 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.05;MQ0=0;QD=35.73;SNPEFF_AMINO_ACID_CHANGE=P1313;SNPEFF_CODON_CHANGE=ccA/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_121745784_121750228;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GLI2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000361492 GT:AD:DP:GQ:PL 1/1:0,12:12:36.11:462,36,0
2 121792609 rs2592607 T G 43.95 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=47.12;MQ0=0;QD=21.98;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AC016764.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408394 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:75,6,0
2 121792804 rs145169658 TTTG T 6151.31 PASS AC=2;AF=1.00;AN=2;DB;DP=139;FS=0.0;HRun=0;HaplotypeScore=617.5643;IndelType=D;MQ=60.25;MQ0=0;QD=44.25;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AC016764.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408394 GT:AD:DP:GQ:PL 1/1:6,133:139:99:6151,397,0
2 121793137 rs2677538 T C 39.24 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=19.62;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AC016764.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408394 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:70,6,0
2 121981950 rs11890430 A G 176.49 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=0.323;DB;DP=15;Dels=0.0;FS=2.363;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-2.001;QD=11.77;ReadPosRankSum=0.839;SNPEFF_AMINO_ACID_CHANGE=D22;SNPEFF_CODON_CHANGE=gaT/gaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_121981167_121981963;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TFCP2L1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000537910 GT:AD:DP:GQ:PL 0/1:8,7:15:99:206,0,219
2 121982011 rs4384798 T A 40.37 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=3.979;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=8.07;ReadPosRankSum=-0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TFCP2L1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263707 GT:AD:DP:GQ:PL 0/1:2,3:5:67.92:70,0,68
2 121989489 rs2304667 G A 751.53 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=1.55;DB;DP=52;Dels=0.0;FS=1.145;HRun=1;HaplotypeScore=0.9894;MQ=60.0;MQ0=0;MQRankSum=-0.25;QD=14.45;ReadPosRankSum=0.99;SNPEFF_AMINO_ACID_CHANGE=I418;SNPEFF_CODON_CHANGE=atC/atT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_121989402_121989544;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TFCP2L1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000263707 GT:AD:DP:GQ:PL 0/1:24,28:52:99:782,0,602
2 121997330 rs11692478 C G 62.61 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=0.55;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=8.94;ReadPosRankSum=-1.754;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TFCP2L1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263707 GT:AD:DP:GQ:PL 0/1:4,3:7:92.61:93,0,136
2 122004596 rs2252862 C G 213.98 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=1.107;DB;DP=17;Dels=0.0;FS=6.864;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.491;QD=12.59;ReadPosRankSum=1.01;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TFCP2L1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263707 GT:AD:DP:GQ:PL 0/1:8,9:17:99:244,0,272
2 122006700 rs7562700 G C 54.74 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.55;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.9889;MQ=60.0;MQ0=0;MQRankSum=1.3;QD=7.82;ReadPosRankSum=-1.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TFCP2L1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263707 GT:AD:DP:GQ:PL 0/1:3,4:7:84.73:85,0,94
2 122042759 rs140736460 C T 77.85 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.727;QD=19.46;ReadPosRankSum=0.727;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_2_122042624_122042783;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TFCP2L1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263707 GT:AD:DP:GQ:PL 0/1:1,3:4:20.46:108,0,20
2 124439681 rs2670606 A G 463.04 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.24;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AC092646.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408762 GT:AD:DP:GQ:PL 1/1:0,17:17:39.12:496,39,0
2 124979469 rs75221672 C T 352.57 PASS AB=0.478;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.031;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.092;QD=15.33;ReadPosRankSum=1.385;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CNTNAP5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000431078 GT:AD:DP:GQ:PL 0/1:11,12:23:99:383,0,344
2 125192068 rs1425745 T C 2897.11 PASS AC=2;AF=1.00;AN=2;DB;DP=78;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.76;MQ0=0;QD=37.14;SNPEFF_AMINO_ACID_CHANGE=D179;SNPEFF_CODON_CHANGE=gaT/gaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_125192061_125192264;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CNTNAP5;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000431078 GT:AD:DP:GQ:PL 1/1:0,78:78:99:2930,223,0
2 125204192 rs61231472 A G 187.64 PASS AB=0.385;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.927;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.533;QD=14.43;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CNTNAP5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000431078 GT:AD:DP:GQ:PL 0/1:5,8:13:99:218,0,163
2 125232609 rs4411700 G T 169.77 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.388;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.452;QD=12.13;ReadPosRankSum=-0.71;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CNTNAP5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000431078 GT:AD:DP:GQ:PL 0/1:8,6:14:99:200,0,287
2 125281910 rs17727261 C T 1499.59 PASS AB=0.514;AC=1;AF=0.50;AN=2;BaseQRankSum=3.342;DB;DP=107;Dels=0.0;FS=3.707;HRun=1;HaplotypeScore=0.5784;MQ=59.78;MQ0=0;MQRankSum=-1.359;QD=14.01;ReadPosRankSum=1.001;SNPEFF_AMINO_ACID_CHANGE=S452L;SNPEFF_CODON_CHANGE=tCg/tTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_125281880_125282029;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CNTNAP5;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000431078 GT:AD:DP:GQ:PL 0/1:55,52:107:99:1530,0,1448
2 125405302 rs924802 C T 1010.56 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CNTNAP5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000431078 GT:AD:DP:GQ:PL 1/1:0,26:26:75.25:1044,75,0
2 125521945 rs962200 C T 71.91 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9469;MQ=55.21;MQ0=0;MQRankSum=0.358;QD=14.38;ReadPosRankSum=1.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CNTNAP5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000431078 GT:AD:DP:GQ:PL 0/1:2,3:5:59.73:102,0,60
2 125669260 rs2602655 A G 33.33 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=11.11;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CNTNAP5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000431078 GT:AD:DP:GQ:PL 0/1:1,2:3:32.73:63,0,33
2 125671544 rs1840205 G A 775.04 PASS AB=0.415;AC=1;AF=0.50;AN=2;BaseQRankSum=5.173;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=-0.172;QD=18.9;ReadPosRankSum=-0.384;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CNTNAP5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000431078 GT:AD:DP:GQ:PL 0/1:17,24:41:99:805,0,444
2 127432037 . G C 51.94 PASS AC=2;AF=1.00;AN=2;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.866;MQ=55.21;MQ0=0;QD=10.39;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GYPC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259254 GT:AD:DP:GQ:PL 1/1:0,5:5:9.01:84,9,0
2 127447763 rs111829101 G A 251.04 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.473;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.103;QD=15.69;ReadPosRankSum=0.788;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GYPC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259254 GT:AD:DP:GQ:PL 0/1:8,8:16:99:281,0,235
2 127453386 rs1530148 C T 69.60 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=1.754;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.937;QD=9.94;ReadPosRankSum=0.937;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GYPC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259254 GT:AD:DP:GQ:PL 0/1:4,3:7:99:100,0,141
2 127453479 rs4538146 G A 332.68 PASS AB=0.593;AC=1;AF=0.50;AN=2;BaseQRankSum=1.653;DB;DP=27;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.123;QD=12.32;ReadPosRankSum=1.505;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GYPC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259254 GT:AD:DP:GQ:PL 0/1:16,11:27:99:363,0,497
2 127453664 rs1050967 A C 624.93 PASS AB=0.391;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.063;DB;DP=46;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.519;QD=13.59;ReadPosRankSum=-2.082;SNPEFF_AMINO_ACID_CHANGE=G111;SNPEFF_CODON_CHANGE=ggA/ggC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_127453522_127454246;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GYPC;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000259254 GT:AD:DP:GQ:PL 0/1:18,28:46:99:655,0,578
2 127808226 rs2071270 A T 72.92 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.406;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=12.15;ReadPosRankSum=0.988;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BIN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259238 GT:AD:DP:GQ:PL 0/1:3,3:6:99:103,0,101
2 127808532 rs2043798 G A 367.33 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.116;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.193;QD=18.37;ReadPosRankSum=-0.656;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BIN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259238 GT:AD:DP:GQ:PL 0/1:8,12:20:99:397,0,232
2 127808909 rs6745677 G A 73.83 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.537;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.406;QD=12.31;ReadPosRankSum=0.406;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BIN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259238 GT:AD:DP:GQ:PL 0/1:3,3:6:99:104,0,109
2 127821453 rs78935905 G A 388.09 PASS AB=0.391;AC=1;AF=0.50;AN=2;BaseQRankSum=1.426;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.475;QD=16.87;ReadPosRankSum=0.713;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BIN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259238 GT:AD:DP:GQ:PL 0/1:9,14:23:99:418,0,191
2 127821499 rs72481904 T C 509.82 PASS AB=0.447;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.939;DB;DP=38;Dels=0.0;FS=2.984;HRun=1;HaplotypeScore=0.0;MQ=59.39;MQ0=0;MQRankSum=-1.162;QD=13.42;ReadPosRankSum=0.334;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BIN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259238 GT:AD:DP:GQ:PL 0/1:17,21:38:99:540,0,521
2 127826632 rs67327804 A G 184.20 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.813;DB;DP=12;Dels=0.0;FS=3.424;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.869;QD=15.35;ReadPosRankSum=2.426;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BIN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259238 GT:AD:DP:GQ:PL 0/1:6,6:12:99:214,0,137
2 127944781 rs11384285 A AC 965.32 PASS AB=0.662;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.537;DB;DP=45;FS=12.777;HRun=0;HaplotypeScore=100.709;IndelType=I;MQ=59.97;MQ0=0;MQRankSum=0.153;QD=21.45;ReadPosRankSum=0.318;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYP27C1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000335247 GT:AD:DP:GQ:PL 0/1:22,23:45:99:1004,0,707
2 127953054 rs7568070 A C 509.49 PASS AB=0.343;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.407;DB;DP=35;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.93;MQ0=0;MQRankSum=-0.087;QD=14.56;ReadPosRankSum=-0.156;SNPEFF_AMINO_ACID_CHANGE=T192;SNPEFF_CODON_CHANGE=acT/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_127952911_127953077;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYP27C1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000335247 GT:AD:DP:GQ:PL 0/1:12,23:35:99:539,0,399
2 128015367 rs4662718 C T 209.96 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=1.466;DB;DP=18;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9958;MQ=60.0;MQ0=0;MQRankSum=1.2;QD=11.66;ReadPosRankSum=0.311;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ERCC3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000285398 GT:AD:DP:GQ:PL 0/1:8,10:18:99:240,0,279
2 128028792 rs4150499 T C 1517.35 PASS AB=0.523;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.876;DB;DP=107;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9967;MQ=59.13;MQ0=0;MQRankSum=-0.01;QD=14.18;ReadPosRankSum=1.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ERCC3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000285398 GT:AD:DP:GQ:PL 0/1:56,51:107:99:1547,0,1760
2 128029065 rs34670030 GA G 406.37 PASS AB=0.692;AC=1;AF=0.50;AN=2;BaseQRankSum=2.969;DB;DP=54;FS=4.59;HRun=11;HaplotypeScore=159.5482;IndelType=D;MQ=59.75;MQ0=0;MQRankSum=-0.032;QD=7.53;ReadPosRankSum=-0.181;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ERCC3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000285398 GT:AD:DP:GQ:PL 0/1:28,24:54:99:445,0,560
2 128046548 rs4150416 C A 509.65 PASS AB=0.36;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.481;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9867;MQ=60.0;MQ0=0;MQRankSum=0.028;QD=20.39;ReadPosRankSum=-0.708;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ERCC3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460485 GT:AD:DP:GQ:PL 0/1:9,16:25:99:540,0,280
2 128050000 rs4150404 A G 53.01 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.422;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9999;MQ=60.0;MQ0=0;MQRankSum=-1.203;QD=5.3;ReadPosRankSum=-0.248;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ERCC3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000490062 GT:AD:DP:GQ:PL 0/1:6,4:10:83:83,0,209
2 128050068 rs4150403 C T 485.78 PASS AB=0.304;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.033;DB;DP=23;Dels=0.0;FS=6.788;HRun=0;HaplotypeScore=0.9995;MQ=60.0;MQ0=0;MQRankSum=-0.902;QD=21.12;ReadPosRankSum=-0.635;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ERCC3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000285398 GT:AD:DP:GQ:PL 0/1:7,16:23:99:516,0,151
2 128050134 rs4150402 T C 267.13 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=0.203;DB;DP=40;Dels=0.0;FS=3.189;HRun=2;HaplotypeScore=1.8606;MQ=60.0;MQ0=0;MQRankSum=0.609;QD=6.68;ReadPosRankSum=1.171;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ERCC3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000285398 GT:AD:DP:GQ:PL 0/1:30,10:40:99:297,0,790
2 128065931 . G C 62.06 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.231;QD=12.41;ReadPosRankSum=-0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAP3K2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344908 GT:AD:DP:GQ:PL 0/1:2,3:5:69.43:92,0,69
2 128075399 rs77307198 T C 374.44 PASS AB=0.634;AC=1;AF=0.50;AN=2;BaseQRankSum=1.015;DB;DP=41;Dels=0.0;FS=8.565;HRun=1;HaplotypeScore=0.0;MQ=59.54;MQ0=0;MQRankSum=0.311;QD=9.13;ReadPosRankSum=-1.177;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAP3K2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344908 GT:AD:DP:GQ:PL 0/1:26,15:41:99:404,0,846
2 128075624 rs67601380 C CT 183.81 PASS AB=0.796;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.83;DB;DP=39;FS=0.0;HRun=14;HaplotypeScore=341.8264;IndelType=I;MQ=52.45;MQ0=0;MQRankSum=-0.454;QD=4.71;ReadPosRankSum=1.537;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAP3K2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344908 GT:AD:DP:GQ:PL 0/1:24,9:39:99:223,0,278
2 128079806 rs3732209 A G 964.81 PASS AB=0.484;AC=1;AF=0.50;AN=2;BaseQRankSum=0.645;DB;DP=64;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.64;MQ0=0;MQRankSum=-0.752;QD=15.08;ReadPosRankSum=-1.169;SNPEFF_AMINO_ACID_CHANGE=A287;SNPEFF_CODON_CHANGE=gcT/gcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_128079622_128079828;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAP3K2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000344908 GT:AD:DP:GQ:PL 0/1:31,33:64:99:995,0,977
2 128087651 rs61422716 C T 556.57 PASS AB=0.574;AC=1;AF=0.50;AN=2;BaseQRankSum=3.217;DB;DP=47;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.797;QD=11.84;ReadPosRankSum=0.269;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAP3K2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344908 GT:AD:DP:GQ:PL 0/1:27,20:47:99:587,0,901
2 128183914 rs2069928 G T 69.37 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.55;DB;DP=9;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=-0.55;QD=7.71;ReadPosRankSum=-0.937;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=PROC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000419985 GT:AD:DP:GQ:PL 0/1:4,4:9:99:99,0,106
2 128184770 rs5937 T C 974.31 PASS AB=0.479;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.788;DB;DP=73;Dels=0.0;FS=2.741;HRun=0;HaplotypeScore=2.8424;MQ=59.68;MQ0=0;MQRankSum=-0.818;QD=13.35;ReadPosRankSum=-1.01;SNPEFF_AMINO_ACID_CHANGE=D215;SNPEFF_CODON_CHANGE=gaT/gaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_128184681_128184798;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=PROC;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000537436 GT:AD:DP:GQ:PL 0/1:35,38:73:99:1004,0,1088
2 128247640 rs334156 T C 348.43 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.84;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=IWS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000455721 GT:AD:DP:GQ:PL 1/1:0,10:10:30.09:381,30,0
2 128249441 rs334152 C T 709.45 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.01;MQ0=0;QD=37.34;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=IWS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000455721 GT:AD:DP:GQ:PL 1/1:0,19:19:54.18:742,54,0
2 128263476 rs334143 C T 86.33 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.78;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=IWS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295321 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:118,9,0
2 128281469 rs2303947 C T 458.55 PASS AB=0.481;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.412;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=59.14;MQ0=0;MQRankSum=1.771;QD=16.98;ReadPosRankSum=2.208;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=IWS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295321 GT:AD:DP:GQ:PL 0/1:13,14:27:99:489,0,442
2 128339456 rs4662740 G T 792.64 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.081;DB;DP=63;Dels=0.0;FS=1.158;HRun=1;HaplotypeScore=0.6651;MQ=58.89;MQ0=0;MQRankSum=-0.096;QD=12.58;ReadPosRankSum=1.815;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYO7B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272666 GT:AD:DP:GQ:PL 0/1:35,28:63:99:823,0,967
2 128339758 rs17015424 C G 378.15 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.898;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=0.908;QD=15.76;ReadPosRankSum=2.137;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYO7B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272666 GT:AD:DP:GQ:PL 0/1:10,14:24:99:408,0,338
2 128340253 rs10194727 T C 85.08 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYO7B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272666 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:117,9,0
2 128341603 rs10928772 T G 365.65 PASS AB=0.52;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.952;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.86;MQ0=0;MQRankSum=-0.136;QD=14.63;ReadPosRankSum=-0.19;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYO7B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272666 GT:AD:DP:GQ:PL 0/1:13,12:25:99:396,0,457
2 128342547 rs4662741 G A 2758.96 PASS AC=2;AF=1.00;AN=2;DB;DP=78;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9973;MQ=59.7;MQ0=0;QD=35.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYO7B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272666 GT:AD:DP:GQ:PL 1/1:0,78:78:99:2792,205,0
2 128342735 rs35971939 T C 42.68 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.34;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYO7B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272666 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:74,6,0
2 128345960 rs10928773 T C 411.34 PASS AB=0.44;AC=1;AF=0.50;AN=2;BaseQRankSum=1.232;DB;DP=25;Dels=0.0;FS=2.481;HRun=2;HaplotypeScore=0.0;MQ=59.07;MQ0=0;MQRankSum=-0.137;QD=16.45;ReadPosRankSum=-0.301;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYO7B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272666 GT:AD:DP:GQ:PL 0/1:11,14:25:99:441,0,376
2 128346228 rs11673952 A C 453.50 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.88;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYO7B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272666 GT:AD:DP:GQ:PL 1/1:0,13:13:39.11:487,39,0
2 128350551 rs11678239 G A 69.23 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=0.956;DB;DP=8;Dels=0.0;FS=4.26;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=0.322;QD=8.65;ReadPosRankSum=-1.517;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYO7B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272666 GT:AD:DP:GQ:PL 0/1:5,3:8:99:99,0,173
2 128350578 rs111486874 T TG 260.65 PASS AC=2;AF=1.00;AN=2;DB;DP=7;FS=0.0;HRun=2;HaplotypeScore=23.6143;IndelType=I;MQ=60.0;MQ0=0;QD=37.24;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYO7B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272666 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:303,21,0
2 128351346 rs7558838 T C 81.04 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.017;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=10.13;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYO7B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272666 GT:AD:DP:GQ:PL 0/1:4,4:8:99:111,0,137
2 128363530 rs77250827 G GC 347.12 PASS AC=2;AF=1.00;AN=2;DB;DP=10;FS=0.0;HRun=2;HaplotypeScore=49.0776;IndelType=I;MQ=57.66;MQ0=0;QD=34.71;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYO7B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272666 GT:AD:DP:GQ:PL 1/1:0,9:10:27.09:389,27,0
2 128367092 rs777432 G A 496.85 PASS AB=0.553;AC=1;AF=0.50;AN=2;BaseQRankSum=3.141;DB;DP=38;Dels=0.0;FS=3.169;HRun=2;HaplotypeScore=1.9705;MQ=59.51;MQ0=0;MQRankSum=0.235;QD=13.07;ReadPosRankSum=0.558;SNPEFF_AMINO_ACID_CHANGE=S942;SNPEFF_CODON_CHANGE=tcG/tcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_128367081_128367290;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYO7B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000389524 GT:AD:DP:GQ:PL 0/1:21,17:38:99:527,0,605
2 128369896 rs777435 A G 40 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYO7B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272666 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:71,6,0
2 128370200 rs705092 G A 716.39 PASS AB=0.381;AC=1;AF=0.50;AN=2;BaseQRankSum=2.163;DB;DP=42;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.531;QD=17.06;ReadPosRankSum=-0.298;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYO7B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272666 GT:AD:DP:GQ:PL 0/1:16,26:42:99:746,0,429
2 128377833 rs2248519 C G 1377.95 PASS AB=0.424;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.807;DB;DP=85;Dels=0.0;FS=2.646;HRun=0;HaplotypeScore=2.7787;MQ=59.46;MQ0=0;MQRankSum=0.244;QD=16.21;ReadPosRankSum=0.853;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYO7B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272666 GT:AD:DP:GQ:PL 0/1:36,49:85:99:1408,0,1013
2 128381594 rs13015157 C T 34.68 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.34;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYO7B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272666 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:66,6,0
2 128382859 rs2245297 C T 84.20 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.07;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYO7B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000437387 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:116,9,0
2 128385340 rs79948094 C A 106.83 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.466;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.031;QD=9.71;ReadPosRankSum=-0.387;SNPEFF_AMINO_ACID_CHANGE=S408Y;SNPEFF_CODON_CHANGE=tCt/tAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_128385312_128385388;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYO7B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000272666 GT:AD:DP:GQ:PL 0/1:5,6:11:99:137,0,161
2 128388790 rs13025791 G A 221.85 PASS AB=0.591;AC=1;AF=0.50;AN=2;BaseQRankSum=0.467;DB;DP=22;Dels=0.0;FS=1.792;HRun=2;HaplotypeScore=0.0;MQ=57.87;MQ0=0;MQRankSum=0.067;QD=10.08;ReadPosRankSum=-0.601;SNPEFF_AMINO_ACID_CHANGE=E1623;SNPEFF_CODON_CHANGE=gaG/gaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_128388781_128388935;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYO7B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000389524 GT:AD:DP:GQ:PL 0/1:13,9:22:99:252,0,419
2 128388862 rs13025959 G C 638.45 PASS AB=0.511;AC=1;AF=0.50;AN=2;BaseQRankSum=2.38;DB;DP=45;Dels=0.0;FS=2.963;HRun=2;HaplotypeScore=0.0;MQ=58.55;MQ0=0;MQRankSum=0.541;QD=14.19;ReadPosRankSum=1.247;SNPEFF_AMINO_ACID_CHANGE=E1647D;SNPEFF_CODON_CHANGE=gaG/gaC;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_128388781_128388935;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYO7B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000389524 GT:AD:DP:GQ:PL 0/1:23,22:45:99:668,0,613
2 128389343 rs10208043 C T 305.86 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=1.022;DB;DP=18;Dels=0.0;FS=5.614;HRun=0;HaplotypeScore=0.9992;MQ=58.96;MQ0=0;MQRankSum=-0.133;QD=16.99;ReadPosRankSum=-0.578;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYO7B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272666 GT:AD:DP:GQ:PL 0/1:8,10:18:99:336,0,234
2 128390689 rs2009707 A G 39.34 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.231;QD=7.87;ReadPosRankSum=-0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYO7B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272666 GT:AD:DP:GQ:PL 0/1:2,3:5:33.20:69,0,33
2 128392468 rs4662749 A G 47.98 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=15.99;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LIMS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000324938 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:79,6,0
2 128392547 rs4662750 A C 254.91 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.28;MQ0=0;QD=36.42;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LIMS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000324938 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:288,21,0
2 128393261 rs2255178 T C 115.80 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=0.597;DB;DP=11;Dels=0.0;FS=3.09;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.278;QD=10.53;ReadPosRankSum=-0.896;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LIMS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000324938 GT:AD:DP:GQ:PL 0/1:4,7:11:99:146,0,132
2 128393289 rs2255177 T C 100.10 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=0.143;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.825;QD=9.1;ReadPosRankSum=1.186;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LIMS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000324938 GT:AD:DP:GQ:PL 0/1:6,5:11:99:130,0,199
2 128393390 rs61748909 G A 109.24 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=2.219;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.361;QD=12.14;ReadPosRankSum=0.361;SNPEFF_AMINO_ACID_CHANGE=D1946N;SNPEFF_CODON_CHANGE=Gac/Aac;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_128393297_128393482;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYO7B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000409816 GT:AD:DP:GQ:PL 0/1:5,4:9:99:139,0,132
2 128393715 rs189985430 G A 382.50 PASS AB=0.435;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.279;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.99;MQ0=0;MQRankSum=0.899;QD=16.63;ReadPosRankSum=-0.589;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LIMS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000324938 GT:AD:DP:GQ:PL 0/1:10,13:23:99:412,0,304
2 128393800 rs2255161 T C 621.54 PASS AB=0.579;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.169;DB;DP=57;Dels=0.0;FS=1.105;HRun=0;HaplotypeScore=0.734;MQ=58.93;MQ0=0;MQRankSum=1.374;QD=10.9;ReadPosRankSum=-0.077;SNPEFF_AMINO_ACID_CHANGE=Y1982;SNPEFF_CODON_CHANGE=taT/taC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_128393783_128393899;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYO7B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000409816 GT:AD:DP:GQ:PL 0/1:33,24:57:99:652,0,954
2 128394758 rs2255039 T C 199.69 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.28;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LIMS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000324938 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:233,18,0
2 128394955 rs11686946 A G 131.65 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.573;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9469;MQ=57.39;MQ0=0;MQRankSum=-0.573;QD=14.63;ReadPosRankSum=0.573;SNPEFF_AMINO_ACID_CHANGE=Q2105R;SNPEFF_CODON_CHANGE=cAg/cGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_128394891_128395303;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYO7B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000409816 GT:AD:DP:GQ:PL 0/1:3,6:9:99:162,0,100
2 128396807 rs891515 A G 717.90 PASS AB=0.491;AC=1;AF=0.50;AN=2;BaseQRankSum=-6.28;DB;DP=57;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.19;MQ0=0;MQRankSum=0.9;QD=12.59;ReadPosRankSum=-1.695;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LIMS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000422034 GT:AD:DP:GQ:PL 0/1:28,29:57:99:748,0,937
2 128411934 rs6707277 A G 1432.16 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.33;MQ0=0;QD=34.1;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272644 GT:AD:DP:GQ:PL 1/1:0,42:42:99:1465,114,0
2 128411950 rs6707282 A G 1183.43 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.8667;MQ=57.87;MQ0=0;QD=26.9;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272644 GT:AD:DP:GQ:PL 1/1:1,43:44:99:1216,114,0
2 128463618 rs2923 C G 48.08 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.04;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SFT2D3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310981 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
2 128495645 rs6754215 G A 375.32 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=0.334;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.466;QD=14.44;ReadPosRankSum=-0.797;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR33;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000322313 GT:AD:DP:GQ:PL 0/1:12,14:26:99:405,0,383
2 128526579 . T TTAAA 670.03 PASS AC=2;AF=1.00;AN=2;DP=29;FS=0.0;HRun=0;HaplotypeScore=126.3445;IndelType=I;MQ=58.57;MQ0=0;QD=23.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR33;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000322313 GT:AD:DP:GQ:PL 1/1:18,9:29:33.11:712,33,0
2 128528694 rs116634293 C G 52.75 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR33;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000322313 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
2 128699833 rs1370229 C T 478.39 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=56.85;MQ0=0;QD=31.89;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SAP130;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259234 GT:AD:DP:GQ:PL 1/1:0,15:15:39.13:511,39,0
2 128708063 rs2461463 T C 141.57 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.31;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SAP130;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259234 GT:AD:DP:GQ:PL 1/1:0,5:5:15.04:174,15,0
2 128744580 rs2948068 A G 929.50 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.17;MQ0=0;QD=33.2;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SAP130;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259234 GT:AD:DP:GQ:PL 1/1:0,28:28:75.20:963,75,0
2 128753854 rs1550174 T C 1394.69 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.4101;MQ=59.46;MQ0=0;QD=32.43;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SAP130;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259234 GT:AD:DP:GQ:PL 1/1:0,43:43:99:1428,111,0
2 128757294 . C T 111.23 PASS AB=0.762;AC=1;AF=0.50;AN=2;BaseQRankSum=0.867;DP=21;Dels=0.0;FS=9.41;HRun=0;HaplotypeScore=0.0;MQ=58.89;MQ0=0;MQRankSum=0.124;QD=5.3;ReadPosRankSum=-0.95;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SAP130;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259234 GT:AD:DP:GQ:PL 0/1:16,5:21:99:141,0,560
2 128757804 rs10928793 C T 663.58 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.78;MQ0=0;QD=34.93;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SAP130;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259234 GT:AD:DP:GQ:PL 1/1:0,19:19:51.17:697,51,0
2 128855267 rs10928803 T C 600.76 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.71;MQ0=0;QD=33.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=UGGT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259253 GT:AD:DP:GQ:PL 1/1:0,18:18:51.13:634,51,0
2 128865858 rs6736472 A G 35.63 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=29.0;MQ0=0;QD=17.81;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=UGGT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000430075 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:67,6,0
2 128870808 rs4662775 T C 2276.05 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9469;MQ=60.0;MQ0=0;QD=35.02;SNPEFF_AMINO_ACID_CHANGE=N200;SNPEFF_CODON_CHANGE=aaT/aaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_128870658_128870832;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=UGGT1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000375990 GT:AD:DP:GQ:PL 1/1:0,65:65:99:2309,172,0
2 128870952 rs4662776 C T 204.70 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.12;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=UGGT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259253 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:238,18,0
2 128874061 rs10210598 G A 210.26 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.82;MQ0=0;QD=35.04;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=UGGT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259253 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:243,18,0
2 128877837 rs4662593 G C 1037.48 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.33;MQ0=0;QD=37.05;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=UGGT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259253 GT:AD:DP:GQ:PL 1/1:0,28:28:78.26:1070,78,0
2 128878014 rs4662594 G A 5436.02 PASS AC=2;AF=1.00;AN=2;DB;DP=177;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=3.2971;MQ=59.61;MQ0=0;QD=30.54;SNPEFF_AMINO_ACID_CHANGE=K295;SNPEFF_CODON_CHANGE=aaG/aaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_128877930_128878030;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=UGGT1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000375990 GT:AD:DP:GQ:PL 1/1:0,176:177:99:5436,433,0
2 128878667 rs6430990 T C 462.36 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.03;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=UGGT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259253 GT:AD:DP:GQ:PL 1/1:0,14:14:39.09:495,39,0
2 128879022 rs6430991 G C 40 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=53.58;MQ0=0;QD=20.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=UGGT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259253 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:71,6,0
2 128880899 rs4480941 T A 318.54 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.39;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=UGGT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259253 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:352,27,0
2 128890878 rs34066685 T TG 3173.39 PASS AC=2;AF=1.00;AN=2;DB;DP=72;FS=0.0;HRun=1;HaplotypeScore=143.5934;IndelType=I;MQ=60.17;MQ0=0;QD=44.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=UGGT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259253 GT:AD:DP:GQ:PL 1/1:0,72:72:99:3215,217,0
2 128891067 rs11903649 C T 84.51 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.13;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=UGGT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259253 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:117,9,0
2 129075877 . G T 61.30 MQFilter40 AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.4;DP=15;Dels=0.0;FS=2.533;HRun=1;HaplotypeScore=0.0;MQ=26.64;MQ0=1;MQRankSum=-0.933;QD=4.09;ReadPosRankSum=0.4;SNPEFF_AMINO_ACID_CHANGE=D87E;SNPEFF_CODON_CHANGE=gaC/gaA;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_129075611_129076151;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HS6ST1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000259241 GT:AD:DP:GQ:PL 0/1:10,5:15:91.30:91,0,182
2 129075961 rs61732881 T C 103.37 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=29.71;MQ0=0;QD=14.77;SNPEFF_AMINO_ACID_CHANGE=T59;SNPEFF_CODON_CHANGE=acA/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_129075611_129076151;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HS6ST1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000259241 GT:AD:DP:GQ:PL 1/1:0,7:7:14.99:136,15,0
2 129276232 rs2247927 A G 1099.77 PASS AB=0.518;AC=1;AF=0.50;AN=2;BaseQRankSum=-7.04;DB;DP=85;Dels=0.0;FS=3.118;HRun=0;HaplotypeScore=3.2779;MQ=58.74;MQ0=0;MQRankSum=-0.717;QD=12.94;ReadPosRankSum=0.708;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=ISCA1P6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427740 GT:AD:DP:GQ:PL 0/1:44,41:85:99:1130,0,1421
2 129276233 rs2247926 A T 1211.78 PASS AB=0.518;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.756;DB;DP=85;Dels=0.0;FS=3.135;HRun=1;HaplotypeScore=3.2779;MQ=58.74;MQ0=0;MQRankSum=0.708;QD=14.26;ReadPosRankSum=0.655;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=ISCA1P6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427740 GT:AD:DP:GQ:PL 0/1:44,41:85:99:1242,0,1436
2 129276720 rs841094 T C 355.10 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.895;DB;DP=45;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=41.93;MQ0=2;MQRankSum=-2.383;QD=7.89;ReadPosRankSum=0.666;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=ISCA1P6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427740 GT:AD:DP:GQ:PL 0/1:25,20:45:99:385,0,829
2 129276784 rs1814530 C T 160.50 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=1.954;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=42.33;MQ0=0;MQRankSum=1.369;QD=12.35;ReadPosRankSum=2.627;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=ISCA1P6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427740 GT:AD:DP:GQ:PL 0/1:7,6:13:99:190,0,159
2 129999882 rs1251175 C T 35.98 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.99;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AC079586.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375987 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:67,6,0
2 130000040 rs1251176 G C 257.42 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.74;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AC079586.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375987 GT:AD:DP:GQ:PL 1/1:0,10:10:24.07:290,24,0
2 130681407 rs7591781 G C 87.24 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.08;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_unprocessed_pseudogene;SNPEFF_GENE_NAME=AC079776.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000433290 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:119,9,0
2 130681447 rs11897873 G A 46.65 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=15.55;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_unprocessed_pseudogene;SNPEFF_GENE_NAME=AC079776.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000433290 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:78,6,0
2 130683344 rs10928942 G A 618.53 PASS AB=0.528;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.347;DB;DP=53;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.042;QD=11.67;ReadPosRankSum=0.187;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_unprocessed_pseudogene;SNPEFF_GENE_NAME=AC079776.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000433290 GT:AD:DP:GQ:PL 0/1:28,25:53:99:649,0,898
2 130738163 rs144773989 G A 1583.71 MQFilter40 AB=0.597;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.196;DB;DP=191;Dels=0.0;FS=2.64;HRun=4;HaplotypeScore=3.9776;MQ=31.41;MQ0=57;MQRankSum=-0.501;QD=8.29;ReadPosRankSum=-0.574;SNPEFF_AMINO_ACID_CHANGE=A159T;SNPEFF_CODON_CHANGE=Gct/Act;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_130737235_130740311;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RAB6C;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000410061 GT:AD:DP:GQ:PL 0/1:114,77:191:99:1614,0,1616
2 130750446 . C A 453.08 MQFilter40 AB=0.487;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.33;DP=76;Dels=0.0;FS=7.322;HRun=0;HaplotypeScore=0.0;MQ=21.34;MQ0=21;MQRankSum=-0.763;QD=5.96;ReadPosRankSum=1.856;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC018865.8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000440931 GT:AD:DP:GQ:PL 0/1:37,39:76:99:483,0,540
2 130751121 rs4362508 A T 449.98 PASS AB=0.486;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.37;DB;DP=35;Dels=0.0;FS=5.287;HRun=0;HaplotypeScore=0.7887;MQ=58.71;MQ0=0;MQRankSum=0.281;QD=12.86;ReadPosRankSum=-1.469;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=AC018865.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401540 GT:AD:DP:GQ:PL 0/1:17,18:35:99:480,0,558
2 130751141 rs4493197 C A 486.87 PASS AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=0.044;DB;DP=38;Dels=0.0;FS=2.987;HRun=0;HaplotypeScore=0.0;MQ=58.82;MQ0=0;MQRankSum=-0.921;QD=12.81;ReadPosRankSum=-1.184;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=AC018865.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401540 GT:AD:DP:GQ:PL 0/1:20,18:38:99:517,0,579
2 130784955 rs7595853 T A 147.80 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.246;DB;DP=11;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=41.97;MQ0=0;MQRankSum=-1.663;QD=13.44;ReadPosRankSum=0.597;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC018865.8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000449736 GT:AD:DP:GQ:PL 0/1:4,7:11:99:178,0,134
2 130785180 rs4444464 C T 421.24 PASS AB=0.406;AC=1;AF=0.50;AN=2;BaseQRankSum=2.656;DB;DP=32;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8321;MQ=46.38;MQ0=0;MQRankSum=-3.589;QD=13.16;ReadPosRankSum=-0.426;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC018865.8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000449736 GT:AD:DP:GQ:PL 0/1:13,19:32:99:451,0,394
2 130792213 rs13022989 T G 253.32 PASS AB=0.654;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.755;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.132;QD=9.74;ReadPosRankSum=1.347;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC018865.8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000428123 GT:AD:DP:GQ:PL 0/1:17,9:26:99:283,0,605
2 130831551 . G A 50.76 MQFilter40 AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=1.754;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=22.5;MQ0=0;MQRankSum=-0.55;QD=7.25;ReadPosRankSum=1.3;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POTEF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360967 GT:AD:DP:GQ:PL 0/1:3,4:7:42.83:81,0,43
2 130831636 . C T 30.83 MQFilter40;QDFilter2 AB=0.68;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.69;DP=25;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=18.12;MQ0=7;MQRankSum=1.009;QD=1.23;ReadPosRankSum=-0.372;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POTEF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360967 GT:AD:DP:GQ:PL 0/1:17,8:25:60.82:61,0,180
2 130832185 . G A 335.31 MQFilter40 AB=0.734;AC=1;AF=0.50;AN=2;BaseQRankSum=3.035;DP=143;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9159;MQ=10.82;MQ0=105;MQRankSum=-0.955;QD=2.34;ReadPosRankSum=-0.743;SNPEFF_AMINO_ACID_CHANGE=R954W;SNPEFF_CODON_CHANGE=Cgg/Tgg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_130831108_130833145;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POTEF;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000357462 GT:AD:DP:GQ:PL 0/1:105,38:143:46.73:365,0,47
2 130832292 rs75775141 T A 1241.12 FSFilter60;MQFilter40 AB=0.367;AC=1;AF=0.50;AN=2;BaseQRankSum=1.843;DB;DP=98;Dels=0.0;FS=64.315;HRun=1;HaplotypeScore=0.0;MQ=25.21;MQ0=16;MQRankSum=1.35;QD=12.66;ReadPosRankSum=2.206;SNPEFF_AMINO_ACID_CHANGE=Y918F;SNPEFF_CODON_CHANGE=tAt/tTt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_130831108_130833145;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POTEF;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000357462 GT:AD:DP:GQ:PL 0/1:36,62:98:99:1271,0,477
2 130832358 . T C 304.09 MQFilter40 AB=0.689;AC=1;AF=0.50;AN=2;BaseQRankSum=1.025;DP=74;Dels=0.0;FS=30.575;HRun=0;HaplotypeScore=0.8941;MQ=32.16;MQ0=7;MQRankSum=1.908;QD=4.11;ReadPosRankSum=0.441;SNPEFF_AMINO_ACID_CHANGE=H896R;SNPEFF_CODON_CHANGE=cAt/cGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_130831108_130833145;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POTEF;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000357462 GT:AD:DP:GQ:PL 0/1:51,23:74:99:334,0,1244
2 130832389 . G T 401.94 MQFilter40 AB=0.727;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.499;DP=77;Dels=0.0;FS=35.414;HRun=0;HaplotypeScore=3.6415;MQ=32.88;MQ0=4;MQRankSum=1.464;QD=5.22;ReadPosRankSum=-0.415;SNPEFF_AMINO_ACID_CHANGE=P886T;SNPEFF_CODON_CHANGE=Cct/Act;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_130831108_130833145;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POTEF;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000357462 GT:AD:DP:GQ:PL 0/1:56,21:77:99:432,0,1397
2 130832444 rs2599794 C A 1578.28 MQFilter40 AB=0.481;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.144;DB;DP=135;Dels=0.0;FS=33.549;HRun=0;HaplotypeScore=2.4558;MQ=36.45;MQ0=6;MQRankSum=-3.05;QD=11.69;ReadPosRankSum=-0.426;SNPEFF_AMINO_ACID_CHANGE=E867D;SNPEFF_CODON_CHANGE=gaG/gaT;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_130831108_130833145;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POTEF;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000357462 GT:AD:DP:GQ:PL 0/1:65,70:135:99:1608,0,1804
2 130832531 rs2122977 A G 430.04 QDFilter2 AB=0.8;AC=1;AF=0.50;AN=2;BaseQRankSum=-6.195;DB;DP=250;DS;Dels=0.0;FS=32.677;HRun=1;HaplotypeScore=3.3453;MQ=44.56;MQ0=9;MQRankSum=-5.183;QD=1.72;ReadPosRankSum=-2.444;SNPEFF_AMINO_ACID_CHANGE=A838;SNPEFF_CODON_CHANGE=gcT/gcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_130831108_130833145;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POTEF;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000357462 GT:AD:DP:GQ:PL 0/1:200,50:250:99:460,0,6114
2 130832669 . G A 226.10 QDFilter2 AB=0.846;AC=1;AF=0.50;AN=2;BaseQRankSum=2.555;DP=156;Dels=0.0;FS=39.511;HRun=0;HaplotypeScore=1.6553;MQ=42.74;MQ0=8;MQRankSum=-5.495;QD=1.45;ReadPosRankSum=1.764;SNPEFF_AMINO_ACID_CHANGE=N792;SNPEFF_CODON_CHANGE=aaC/aaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_130831108_130833145;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POTEF;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000357462 GT:AD:DP:GQ:PL 0/1:132,24:156:99:256,0,3608
2 130833159 . G A 764.87 MQFilter40 AB=0.709;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.408;DP=172;Dels=0.0;FS=2.021;HRun=3;HaplotypeScore=7.3332;MQ=23.52;MQ0=61;MQRankSum=0.973;QD=4.45;ReadPosRankSum=-0.217;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POTEF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357462 GT:AD:DP:GQ:PL 0/1:122,50:172:99:795,0,1398
2 130868253 . T C 46.24 MQFilter40;QDFilter2 AB=0.972;AC=1;AF=0.50;AN=2;BaseQRankSum=1.221;DP=106;Dels=0.0;FS=7.068;HRun=1;HaplotypeScore=0.0;MQ=7.97;MQ0=98;MQRankSum=-0.322;QD=0.44;ReadPosRankSum=-0.956;SNPEFF_AMINO_ACID_CHANGE=R306;SNPEFF_CODON_CHANGE=agA/agG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_130868116_130868253;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POTEF;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000357462 GT:AD:DP:GQ:PL 0/1:103,3:106:76.24:76,0,143
2 130872658 . A T 653.10 MQFilter40 AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.235;DP=207;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=11.494;MQ=16.25;MQ0=115;MQRankSum=0.706;QD=3.16;ReadPosRankSum=-0.73;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POTEF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357462 GT:AD:DP:GQ:PL 0/1:138,69:207:99:683,0,659
2 130877752 rs77273091 T C 829.79 PASS AB=0.524;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.968;DB;DP=229;Dels=0.0;FS=15.215;HRun=1;HaplotypeScore=2.6514;MQ=44.44;MQ0=27;MQRankSum=-11.623;QD=3.62;ReadPosRankSum=1.652;SNPEFF_AMINO_ACID_CHANGE=S113G;SNPEFF_CODON_CHANGE=Agc/Ggc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_130877568_130878182;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POTEF;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000357462 GT:AD:DP:GQ:PL 0/1:120,109:229:99:860,0,3964
2 130897055 rs28751929 G A 130.37 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=0.103;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.09;MQ0=0;MQRankSum=1.098;QD=11.85;ReadPosRankSum=0.103;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CCDC74B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409128 GT:AD:DP:GQ:PL 0/1:6,5:11:99:160,0,162
2 130897218 rs13006246 T C 54.63 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.475;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=54.08;MQ0=0;MQRankSum=-0.919;QD=3.9;ReadPosRankSum=-0.778;SNPEFF_AMINO_ACID_CHANGE=H245R;SNPEFF_CODON_CHANGE=cAc/cGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_130897175_130897251;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CCDC74B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000409488 GT:AD:DP:GQ:PL 0/1:10,4:14:84.62:85,0,307
2 130898054 . G C 45.52 MQFilter40 AB=0.778;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.377;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=17.2;MQ0=6;MQRankSum=1.931;QD=2.53;ReadPosRankSum=0.382;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CCDC74B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409128 GT:AD:DP:GQ:PL 0/1:14,4:18:68.76:76,0,69
2 130899804 rs138331089 T C 111.16 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=17.7;MQ0=5;QD=11.12;SNPEFF_AMINO_ACID_CHANGE=H149R;SNPEFF_CODON_CHANGE=cAt/cGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_130899706_130899954;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CCDC74B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000310463 GT:AD:DP:GQ:PL 1/1:0,10:10:15.01:144,15,0
2 130948314 rs71396588 G GT 596.11 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.484;DB;DP=48;FS=0.0;HRun=12;HaplotypeScore=299.3284;IndelType=I;MQ=57.93;MQ0=0;MQRankSum=-0.207;QD=12.42;ReadPosRankSum=0.277;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MZT2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281871 GT:AD:DP:GQ:PL 1/1:18,28:48:27.52:638,28,0
2 130949411 rs10208844 G T 3033.79 PASS AC=2;AF=1.00;AN=2;DB;DP=101;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8941;MQ=42.34;MQ0=1;QD=30.04;SNPEFF_AMINO_ACID_CHANGE=A449E;SNPEFF_CODON_CHANGE=gCa/gAa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_130949318_130949700;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TUBA3E;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000312988 GT:AD:DP:GQ:PL 1/1:0,101:101:99:3067,247,0
2 130951548 rs1052319 G A 3734.15 PASS AC=2;AF=1.00;AN=2;DB;DP=107;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=55.61;MQ0=0;QD=34.9;SNPEFF_AMINO_ACID_CHANGE=A289;SNPEFF_CODON_CHANGE=gcC/gcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_130951359_130952039;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TUBA3E;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000312988 GT:AD:DP:GQ:PL 1/1:0,107:107:99:3734,280,0
2 130951566 rs7340193 G A 1614.28 PASS AB=0.465;AC=1;AF=0.50;AN=2;BaseQRankSum=1.602;DB;DP=101;Dels=0.0;FS=8.147;HRun=0;HaplotypeScore=0.734;MQ=56.07;MQ0=0;MQRankSum=1.623;QD=15.98;ReadPosRankSum=0.849;SNPEFF_AMINO_ACID_CHANGE=H283;SNPEFF_CODON_CHANGE=caC/caT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_130951359_130952039;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TUBA3E;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000312988 GT:AD:DP:GQ:PL 0/1:47,54:101:99:1644,0,1390
2 131100496 rs11542416 G A 1216.43 PASS AB=0.439;AC=1;AF=0.50;AN=2;BaseQRankSum=1.067;DB;DP=82;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.2949;MQ=60.0;MQ0=0;MQRankSum=-0.504;QD=14.83;ReadPosRankSum=0.708;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IMP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460766 GT:AD:DP:GQ:PL 0/1:36,46:82:99:1246,0,1079
2 131100734 rs11542411 G A 173.40 PASS AB=0.682;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.306;DB;DP=22;Dels=0.0;FS=2.73;HRun=1;HaplotypeScore=0.0;MQ=58.95;MQ0=0;MQRankSum=-1.007;QD=7.88;ReadPosRankSum=-1.38;SNPEFF_AMINO_ACID_CHANGE=E27K;SNPEFF_CODON_CHANGE=Gag/Aag;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_131100659_131100767;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IMP4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000259239 GT:AD:DP:GQ:PL 0/1:15,7:22:99:203,0,497
2 131116404 rs7568956 T C 722.41 PASS AB=0.525;AC=1;AF=0.50;AN=2;BaseQRankSum=3.358;DB;DP=61;Dels=0.0;FS=1.098;HRun=1;HaplotypeScore=0.9332;MQ=59.24;MQ0=0;MQRankSum=-0.931;QD=11.84;ReadPosRankSum=-0.397;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPN18;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000175756 GT:AD:DP:GQ:PL 0/1:32,29:61:99:752,0,1008
2 131117120 rs55841189 G A 255.78 PASS AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.939;DB;DP=19;Dels=0.0;FS=1.871;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=-1.184;QD=13.46;ReadPosRankSum=1.184;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPN18;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000175756 GT:AD:DP:GQ:PL 0/1:10,9:19:99:286,0,299
2 131130678 rs10189689 T C 55.99 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.639;DB;DP=20;Dels=0.0;FS=1.952;HRun=1;HaplotypeScore=0.0;MQ=55.21;MQ0=0;MQRankSum=0.702;QD=2.8;ReadPosRankSum=-1.358;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPN18;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000428843 GT:AD:DP:GQ:PL 0/1:12,8:20:85.98:86,0,393
2 131221102 rs139258542 T C 260.43 MQFilter40;QDFilter2 AC=2;AF=1.00;AN=2;BaseQRankSum=1.654;DB;DP=135;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=9.75;MQ0=91;MQRankSum=-0.866;QD=1.93;ReadPosRankSum=0.866;SNPEFF_AMINO_ACID_CHANGE=M839V;SNPEFF_CODON_CHANGE=Atg/Gtg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_131217028_131221717;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POTEI;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000451531 GT:AD:DP:GQ:PL 1/1:3,132:135:33.01:293,33,0
2 131221170 rs144934754 C T 525.12 MQFilter40 AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.36;DB;DP=139;Dels=0.0;FS=2.071;HRun=0;HaplotypeScore=0.5784;MQ=20.99;MQ0=43;MQRankSum=-0.657;QD=3.78;ReadPosRankSum=-0.939;SNPEFF_AMINO_ACID_CHANGE=R816H;SNPEFF_CODON_CHANGE=cGc/cAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_131217028_131221717;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POTEI;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000451531 GT:AD:DP:GQ:PL 0/1:69,69:139:99:555,0,904
2 131221445 . G A 112 MQFilter40;QDFilter2 AB=0.793;AC=1;AF=0.50;AN=2;BaseQRankSum=0.529;DP=199;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=4.78;MQ0=187;MQRankSum=2.533;QD=0.56;ReadPosRankSum=1.788;SNPEFF_AMINO_ACID_CHANGE=D724;SNPEFF_CODON_CHANGE=gaC/gaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_131217028_131221717;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POTEI;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000451531 GT:AD:DP:GQ:PL 0/1:157,41:199:23.36:142,0,23
2 131221622 . C T 475.16 MQFilter40 AC=2;AF=1.00;AN=2;BaseQRankSum=-3.723;DP=74;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=14.34;MQ0=46;MQRankSum=3.667;QD=6.42;ReadPosRankSum=-3.723;SNPEFF_AMINO_ACID_CHANGE=M665I;SNPEFF_CODON_CHANGE=atG/atA;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_131217028_131221717;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POTEI;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000451531 GT:AD:DP:GQ:PL 1/1:28,46:74:53.98:508,54,0
2 131232387 . A G 38.01 MQFilter40;QDFilter2 AC=2;AF=1.00;AN=2;DP=70;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=4.05;MQ0=66;QD=0.54;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POTEI;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000451531 GT:AD:DP:GQ:PL 1/1:15,55:70:8.97:70,9,0
2 131232617 . G T 241.41 MQFilter40 AB=0.654;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.723;DP=78;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.8401;MQ=11.7;MQ0=47;MQRankSum=-0.395;QD=3.09;ReadPosRankSum=2.099;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POTEI;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000451531 GT:AD:DP:GQ:PL 0/1:51,27:78:99:271,0,209
2 131254320 . C T 256.99 MQFilter40 AB=0.423;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.457;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9159;MQ=28.19;MQ0=5;MQRankSum=-1.457;QD=9.88;ReadPosRankSum=-0.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POTEI;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000451531 GT:AD:DP:GQ:PL 0/1:11,15:26:99:287,0,263
2 131266530 rs10737928 C A 3204.34 MQFilter40 AB=0.508;AC=1;AF=0.50;AN=2;BaseQRankSum=5.508;DB;DP=250;DS;Dels=0.0;FS=6.753;HRun=0;HaplotypeScore=0.6651;MQ=38.0;MQ0=1;MQRankSum=3.131;QD=12.82;ReadPosRankSum=1.172;SNPEFF_AMINO_ACID_CHANGE=T93;SNPEFF_CODON_CHANGE=acG/acT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_131266288_131267239;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POTEI;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000451531 GT:AD:DP:GQ:PL 0/1:127,123:250:99:3234,0,3023
2 131266584 rs28754532 A G 610.40 MQFilter40 AB=0.765;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.254;DB;DP=244;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.1017;MQ=38.71;MQ0=4;MQRankSum=-7.199;QD=2.5;ReadPosRankSum=-0.754;SNPEFF_AMINO_ACID_CHANGE=S75;SNPEFF_CODON_CHANGE=agT/agC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_131266288_131267239;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POTEI;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000451531 GT:AD:DP:GQ:PL 0/1:186,57:244:99:640,0,5548
2 131266746 rs62163654 C T 1672.23 MQFilter40 AB=0.287;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.298;DB;DP=244;DS;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=16.1;MQ0=139;MQRankSum=-0.627;QD=6.85;ReadPosRankSum=0.219;SNPEFF_AMINO_ACID_CHANGE=R21;SNPEFF_CODON_CHANGE=agG/agA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_131266288_131267239;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POTEI;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000451531 GT:AD:DP:GQ:PL 0/1:70,174:244:99:1702,0,327
2 131377707 . A G 50.96 MQFilter40;QDFilter2 AC=2;AF=1.00;AN=2;BaseQRankSum=0.727;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=7.59;MQ0=26;MQRankSum=0.727;QD=1.64;ReadPosRankSum=0.727;SNPEFF_AMINO_ACID_CHANGE=A263;SNPEFF_CODON_CHANGE=gcA/gcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_131377618_131377724;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POTEJ;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000409602 GT:AD:DP:GQ:PL 1/1:2,28:31:9.01:83,9,0
2 131379209 . T C 1000.88 MQFilter40 AB=0.523;AC=1;AF=0.50;AN=2;BaseQRankSum=-6.861;DP=239;DS;Dels=0.0;FS=2.379;HRun=1;HaplotypeScore=1.9468;MQ=17.71;MQ0=78;MQRankSum=-0.936;QD=4.19;ReadPosRankSum=-0.94;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POTEJ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409602 GT:AD:DP:GQ:PL 0/1:125,114:239:99:1031,0,1884
2 131403183 rs141545589 C T 118.15 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=15.0;MQ0=18;QD=5.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POTEJ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409602 GT:AD:DP:GQ:PL 1/1:17,5:22:12.04:151,12,0
2 131403217 . C A 39.17 MQFilter40;QDFilter2 AC=2;AF=1.00;AN=2;DP=54;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=8.14;MQ0=51;QD=0.73;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POTEJ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409602 GT:AD:DP:GQ:PL 1/1:33,21:54:6.02:70,6,0
2 131407692 rs62165268 T C 846.23 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=35.94;MQ0=4;QD=24.89;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POTEJ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409602 GT:AD:DP:GQ:PL 1/1:0,34:34:72.15:879,72,0
2 131407943 . T G 63.39 MQFilter40 AC=2;AF=1.00;AN=2;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=22.51;MQ0=1;QD=10.57;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POTEJ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409602 GT:AD:DP:GQ:PL 1/1:0,6:6:9.01:95,9,0
2 131414061 rs62165274 A G 471.78 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=25.63;MQ0=4;QD=18.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POTEJ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409602 GT:AD:DP:GQ:PL 1/1:0,25:25:45.12:505,45,0
2 131414073 rs62165275 T A 663.21 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=28.37;MQ0=4;QD=20.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POTEJ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409602 GT:AD:DP:GQ:PL 1/1:0,33:33:66.08:696,66,0
2 131414176 rs62165276 C T 3689.28 PASS AC=2;AF=1.00;AN=2;DB;DP=118;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=41.7;MQ0=2;QD=31.27;SNPEFF_AMINO_ACID_CHANGE=R615W;SNPEFF_CODON_CHANGE=Cgg/Tgg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_131414122_131415664;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POTEJ;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000409602 GT:AD:DP:GQ:PL 1/1:0,118:118:99:3689,298,0
2 131414394 . C T 222.39 MQFilter40 AC=2;AF=1.00;AN=2;BaseQRankSum=-0.868;DP=42;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=14.43;MQ0=26;MQRankSum=0.217;QD=5.3;ReadPosRankSum=0.0;SNPEFF_AMINO_ACID_CHANGE=D687;SNPEFF_CODON_CHANGE=gaC/gaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_131414122_131415664;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POTEJ;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000409602 GT:AD:DP:GQ:PL 1/1:2,40:42:10.28:255,10,0
2 131460674 . G A 68.38 MQFilter40 AC=2;AF=1.00;AN=2;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=11.85;MQ0=16;QD=3.6;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_unprocessed_pseudogene;SNPEFF_GENE_NAME=AC140481.7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000425151 GT:AD:DP:GQ:PL 1/1:6,13:19:9.02:100,9,0
2 131487673 rs272128 A C 1413.57 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.45;MQ0=0;QD=33.66;SNPEFF_AMINO_ACID_CHANGE=T317P;SNPEFF_CODON_CHANGE=Aca/Cca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_131486643_131487909;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR148;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000309926 GT:AD:DP:GQ:PL 1/1:0,42:42:99:1447,108,0
2 131520178 rs77687733 C G 779.13 PASS AB=0.453;AC=1;AF=0.50;AN=2;BaseQRankSum=2.082;DB;DP=53;Dels=0.0;FS=2.433;HRun=2;HaplotypeScore=0.0;MQ=59.56;MQ0=0;MQRankSum=-0.098;QD=14.7;ReadPosRankSum=-0.205;SNPEFF_AMINO_ACID_CHANGE=A178G;SNPEFF_CODON_CHANGE=gCg/gGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_131519627_131522659;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM123C;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000321420 GT:AD:DP:GQ:PL 0/1:24,29:53:99:809,0,690
2 131520663 rs1905235 T C 1152.26 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.92;SNPEFF_AMINO_ACID_CHANGE=S340P;SNPEFF_CODON_CHANGE=Tcc/Ccc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_131519627_131522659;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM123C;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000321420 GT:AD:DP:GQ:PL 1/1:0,35:35:90.28:1185,90,0
2 131672271 rs6752724 T C 47.50 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.75;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_2_131671559_131675071;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ARHGEF4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000409359 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
2 131672950 rs12464119 A G 727.01 PASS AB=0.468;AC=1;AF=0.50;AN=2;BaseQRankSum=0.565;DB;DP=47;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.51;MQ0=0;MQRankSum=0.394;QD=15.47;ReadPosRankSum=0.544;SNPEFF_AMINO_ACID_CHANGE=Q147;SNPEFF_CODON_CHANGE=caA/caG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_131671559_131675071;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ARHGEF4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000409359 GT:AD:DP:GQ:PL 0/1:22,25:47:99:757,0,606
2 131673316 rs3739129 C T 670.98 PASS AB=0.276;AC=1;AF=0.50;AN=2;BaseQRankSum=2.494;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.52;MQ=58.39;MQ0=0;MQRankSum=0.531;QD=23.14;ReadPosRankSum=-0.424;SNPEFF_AMINO_ACID_CHANGE=P269;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_131671559_131675071;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ARHGEF4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000409359 GT:AD:DP:GQ:PL 0/1:8,21:29:99:701,0,142
2 131673702 rs62178867 G A 36.08 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.04;SNPEFF_AMINO_ACID_CHANGE=S398N;SNPEFF_CODON_CHANGE=aGc/aAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_131671559_131675071;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ARHGEF4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000409359 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:67,6,0
2 131674285 rs3739127 A G 586.17 PASS AB=0.371;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.905;DB;DP=35;Dels=0.0;FS=1.348;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.69;QD=16.75;ReadPosRankSum=0.051;SNPEFF_AMINO_ACID_CHANGE=S592;SNPEFF_CODON_CHANGE=tcA/tcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_131671559_131675071;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ARHGEF4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000409359 GT:AD:DP:GQ:PL 0/1:13,22:35:99:616,0,407
2 131688382 rs72861463 G T 114.39 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.55;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.55;QD=16.34;ReadPosRankSum=0.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ARHGEF4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326016 GT:AD:DP:GQ:PL 0/1:3,4:7:97.28:144,0,97
2 131688587 rs6718816 G A 751.53 PASS AB=0.544;AC=1;AF=0.50;AN=2;BaseQRankSum=2.892;DB;DP=57;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=-0.505;QD=13.18;ReadPosRankSum=0.136;SNPEFF_AMINO_ACID_CHANGE=A199;SNPEFF_CODON_CHANGE=gcG/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_131688525_131688830;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ARHGEF4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000438985 GT:AD:DP:GQ:PL 0/1:31,26:57:99:782,0,821
2 131688783 rs61750360 G A 346.31 PASS AB=0.409;AC=1;AF=0.50;AN=2;BaseQRankSum=0.107;DB;DP=22;Dels=0.0;FS=4.018;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.604;QD=15.74;ReadPosRankSum=0.533;SNPEFF_AMINO_ACID_CHANGE=V265I;SNPEFF_CODON_CHANGE=Gtc/Atc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_131688525_131688830;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ARHGEF4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000438985 GT:AD:DP:GQ:PL 0/1:9,13:22:99:376,0,224
2 131703968 rs67022442 G C 484.84 PASS AB=0.3;AC=1;AF=0.50;AN=2;BaseQRankSum=1.691;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.289;QD=24.24;ReadPosRankSum=0.289;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ARHGEF4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326016 GT:AD:DP:GQ:PL 0/1:6,14:20:99:515,0,181
2 131769237 rs13023338 G A 1078.25 PASS AB=0.403;AC=1;AF=0.50;AN=2;BaseQRankSum=4.319;DB;DP=62;Dels=0.0;FS=6.783;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=-0.918;QD=17.39;ReadPosRankSum=-0.775;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ARHGEF4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326016 GT:AD:DP:GQ:PL 0/1:25,37:62:99:1108,0,682
2 131813442 rs10167343 A G 151.26 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.16;MQ0=0;QD=30.25;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM168B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354183 GT:AD:DP:GQ:PL 1/1:0,5:5:15.03:184,15,0
2 131976272 rs62177515 G C 2705.47 MQFilter40 AC=2;AF=1.00;AN=2;BaseQRankSum=-0.974;DB;DP=207;Dels=0.0;FS=3.203;HRun=0;HaplotypeScore=2.5439;MQ=22.81;MQ0=76;MQRankSum=-1.218;QD=13.07;ReadPosRankSum=-0.92;SNPEFF_AMINO_ACID_CHANGE=G99;SNPEFF_CODON_CHANGE=ggG/ggC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_131975882_131976496;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC131180.1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000356920 GT:AD:DP:GQ:PL 1/1:2,205:207:99:2738,255,0
2 131988269 rs4850270 T C 61.18 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=14.3;MQ0=3;QD=8.74;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC131180.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356920 GT:AD:DP:GQ:PL 1/1:0,7:7:11.95:94,12,0
2 131994230 rs143181131 C A 239.09 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=13.17;MQ0=10;QD=10.4;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC131180.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356920 GT:AD:DP:GQ:PL 1/1:5,18:23:35.84:272,36,0
2 132021023 . G A 255.19 MQFilter40;QDFilter2 AB=0.709;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.42;DP=248;DS;Dels=0.0;FS=6.177;HRun=3;HaplotypeScore=7.6443;MQ=21.84;MQ0=72;MQRankSum=-4.873;QD=1.03;ReadPosRankSum=-2.268;SNPEFF_AMINO_ACID_CHANGE=M665I;SNPEFF_CODON_CHANGE=atG/atA;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_132020928_132022965;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC131180.1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000356920 GT:AD:DP:GQ:PL 0/1:175,72:248:99:285,0,2881
2 132021404 . C T 503.74 MQFilter40 AB=0.565;AC=1;AF=0.50;AN=2;BaseQRankSum=0.638;DP=207;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.4326;MQ=28.05;MQ0=58;MQRankSum=-7.125;QD=2.43;ReadPosRankSum=-1.863;SNPEFF_AMINO_ACID_CHANGE=N792;SNPEFF_CODON_CHANGE=aaC/aaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_132020928_132022965;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC131180.1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000356920 GT:AD:DP:GQ:PL 0/1:117,90:207:99:534,0,2316
2 132021475 rs11546936 G A 440.61 MQFilter40 AB=0.673;AC=1;AF=0.50;AN=2;BaseQRankSum=3.44;DB;DP=217;Dels=0.0;FS=13.231;HRun=0;HaplotypeScore=2.7752;MQ=35.46;MQ0=36;MQRankSum=-7.89;QD=2.03;ReadPosRankSum=0.243;SNPEFF_AMINO_ACID_CHANGE=R816H;SNPEFF_CODON_CHANGE=cGc/cAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_132020928_132022965;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC131180.1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000356920 GT:AD:DP:GQ:PL 0/1:146,71:217:99:471,0,3182
2 132021815 . G A 1041.93 MQFilter40 AB=0.668;AC=1;AF=0.50;AN=2;BaseQRankSum=3.498;DP=248;DS;Dels=0.0;FS=7.554;HRun=0;HaplotypeScore=4.3559;MQ=28.45;MQ0=15;MQRankSum=-5.403;QD=4.2;ReadPosRankSum=1.405;SNPEFF_AMINO_ACID_CHANGE=T929;SNPEFF_CODON_CHANGE=acG/acA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_132020928_132022965;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC131180.1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000356920 GT:AD:DP:GQ:PL 0/1:165,82:248:99:1072,0,3780
2 132021857 . C T 669.44 MQFilter40 AB=0.679;AC=1;AF=0.50;AN=2;BaseQRankSum=7.095;DP=250;DS;Dels=0.0;FS=2.509;HRun=0;HaplotypeScore=10.0633;MQ=23.85;MQ0=59;MQRankSum=-1.334;QD=2.68;ReadPosRankSum=1.065;SNPEFF_AMINO_ACID_CHANGE=P943;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_132020928_132022965;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC131180.1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000356920 GT:AD:DP:GQ:PL 0/1:169,80:250:99:699,0,2780
2 132021908 . G A 68.61 MQFilter40;QDFilter2 AB=0.839;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.87;DP=219;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=10.56;MQ0=139;MQRankSum=-1.584;QD=0.31;ReadPosRankSum=1.561;SNPEFF_AMINO_ACID_CHANGE=A960;SNPEFF_CODON_CHANGE=gcG/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_132020928_132022965;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC131180.1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000356920 GT:AD:DP:GQ:PL 0/1:182,35:219:98.60:99,0,507
2 132044746 rs76191423 C A 91.65 MQFilter40;QDFilter2 AB=0.879;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.364;DB;DP=116;Dels=0.0;FS=2.916;HRun=0;HaplotypeScore=1.445;MQ=38.29;MQ0=13;MQRankSum=-1.342;QD=0.79;ReadPosRankSum=-2.668;SNPEFF_AMINO_ACID_CHANGE=A22D;SNPEFF_CODON_CHANGE=gCc/gAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_132044330_132045143;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYP4F31P;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000416266 GT:AD:DP:GQ:PL 0/1:102,14:116:99:122,0,2407
2 132044787 rs112500726 G A 79.21 QDFilter2 AB=0.878;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.467;DB;DP=123;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.7052;MQ=43.96;MQ0=6;MQRankSum=-2.934;QD=0.64;ReadPosRankSum=3.63;SNPEFF_AMINO_ACID_CHANGE=V36M;SNPEFF_CODON_CHANGE=Gtg/Atg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_132044330_132045143;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYP4F31P;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000416266 GT:AD:DP:GQ:PL 0/1:108,15:123:99:109,0,2891
2 132044797 . C A 82.18 QDFilter2 AB=0.878;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.582;DP=123;Dels=0.0;FS=1.195;HRun=0;HaplotypeScore=2.5395;MQ=44.72;MQ0=5;MQRankSum=-3.076;QD=0.67;ReadPosRankSum=1.945;SNPEFF_AMINO_ACID_CHANGE=A39D;SNPEFF_CODON_CHANGE=gCc/gAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_132044330_132045143;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYP4F31P;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000416266 GT:AD:DP:GQ:PL 0/1:108,15:123:99:112,0,3099
2 132044992 rs4850179 T C 1233.68 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=26.56;MQ0=10;QD=18.98;SNPEFF_AMINO_ACID_CHANGE=I104T;SNPEFF_CODON_CHANGE=aTt/aCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_132044330_132045143;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYP4F31P;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000416266 GT:AD:DP:GQ:PL 1/1:0,65:65:99:1267,123,0
2 132045098 rs4850180 C G 425.98 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=21.62;MQ0=6;QD=15.21;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEKHB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303908 GT:AD:DP:GQ:PL 1/1:0,28:28:47.92:459,48,0
2 132060690 rs7421366 G T 645.04 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.11;MQ0=0;QD=32.25;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEKHB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303908 GT:AD:DP:GQ:PL 1/1:0,20:20:51.15:678,51,0
2 132066470 rs57075481 TC T 950.59 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.733;DB;DP=28;FS=7.482;HRun=2;HaplotypeScore=180.0593;IndelType=D;MQ=53.34;MQ0=4;MQRankSum=1.609;QD=28.81;ReadPosRankSum=-1.362;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEKHB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303908 GT:AD:DP:GQ:PL 1/1:6,27:28:39.27:993,39,0
2 132110123 rs34283659 G A 905.42 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.6617;MQ=59.42;MQ0=0;QD=28.29;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEKHB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303908 GT:AD:DP:GQ:PL 1/1:0,32:32:78.21:938,78,0
2 132110463 rs12477219 G C 1958.88 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=51.46;MQ0=0;QD=32.65;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEKHB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303908 GT:AD:DP:GQ:PL 1/1:0,60:60:99:1992,165,0
2 132110862 . G C 35.63 MQFilter40 AC=2;AF=1.00;AN=2;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=29.0;MQ0=0;QD=17.81;SNPEFF_AMINO_ACID_CHANGE=P231;SNPEFF_CODON_CHANGE=ccG/ccC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_132110593_132111099;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEKHB2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000303908 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:67,6,0
2 132120501 rs146351322 C CT 3118.38 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.538;DB;DP=97;FS=0.0;HRun=7;HaplotypeScore=254.9019;IndelType=I;MQ=48.6;MQ0=0;MQRankSum=-0.681;QD=32.15;ReadPosRankSum=0.603;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=AC073869.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484914 GT:AD:DP:GQ:PL 1/1:9,88:97:99:3160,239,0
2 132248584 rs10182785 T C 148.58 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=50.69;MQ0=0;QD=21.23;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MZT2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309451 GT:AD:DP:GQ:PL 1/1:0,7:7:15.05:181,15,0
2 132349222 rs6711357 A C 4437.20 PASS AC=2;AF=1.00;AN=2;DB;DP=130;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.6176;MQ=53.92;MQ0=0;QD=34.13;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=POTEKP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397487 GT:AD:DP:GQ:PL 1/1:0,130:130:99:4437,349,0
2 132349224 rs6751575 G C 4225.26 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.607;DB;DP=140;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.6176;MQ=54.08;MQ0=0;MQRankSum=-0.511;QD=30.18;ReadPosRankSum=1.358;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=POTEKP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397487 GT:AD:DP:GQ:PL 1/1:1,139:140:99:4225,317,0
2 132349413 rs6751827 G A 7134.23 PASS AC=2;AF=1.00;AN=2;DB;DP=211;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.57;MQ=58.72;MQ0=0;QD=33.81;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=POTEKP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397487 GT:AD:DP:GQ:PL 1/1:0,210:211:99:7134,548,0
2 132349509 rs12994124 G T 1827.86 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.505;DB;DP=151;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.7333;MQ=59.19;MQ0=0;MQRankSum=0.329;QD=12.03;ReadPosRankSum=-0.9;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=POTEKP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397487 GT:AD:DP:GQ:PL 0/1:80,70:151:99:1858,0,2569
2 132349648 rs13029900 T G 2472.53 PASS AB=0.446;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.344;DB;DP=168;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.9663;MQ=59.32;MQ0=0;MQRankSum=-1.462;QD=14.72;ReadPosRankSum=0.353;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=POTEKP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397487 GT:AD:DP:GQ:PL 0/1:75,93:168:99:2503,0,2326
2 132354365 rs2136463 G C 7843.40 PASS AC=2;AF=1.00;AN=2;DB;DP=250;DS;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9867;MQ=46.24;MQ0=6;QD=31.37;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=POTEKP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397487 GT:AD:DP:GQ:PL 1/1:1,249:250:99:7843,629,0
2 132354479 rs6704592 C A 6413.46 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=244;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.4725;MQ=35.21;MQ0=17;QD=26.28;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=POTEKP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397487 GT:AD:DP:GQ:PL 1/1:0,244:244:99:6413,559,0
2 132354586 rs6710546 A G 4735.94 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=200;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.2223;MQ=31.46;MQ0=25;QD=23.68;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=POTEKP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397487 GT:AD:DP:GQ:PL 1/1:13,187:200:99:4736,444,0
2 132354807 rs6705059 C T 3923.77 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.289;DB;DP=140;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9025;MQ=42.52;MQ0=13;MQRankSum=1.4;QD=28.03;ReadPosRankSum=-1.178;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=POTEKP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397487 GT:AD:DP:GQ:PL 1/1:7,133:140:99:3924,300,0
2 132354853 rs6705083 C G 2138.01 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.427;DB;DP=68;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9867;MQ=47.91;MQ0=0;MQRankSum=1.223;QD=31.44;ReadPosRankSum=0.815;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=POTEKP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397487 GT:AD:DP:GQ:PL 1/1:1,67:68:99:2171,156,0
2 132357474 rs1848717 C T 1214.45 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=36.44;MQ0=1;QD=28.24;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=POTEKP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397487 GT:AD:DP:GQ:PL 1/1:0,43:43:99:1247,108,0
2 132357667 rs4107587 A G 3766.76 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=159;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.7447;MQ=32.07;MQ0=10;QD=23.69;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=POTEKP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397487 GT:AD:DP:GQ:PL 1/1:1,156:159:99:3767,330,0
2 132357850 rs6430893 T C 872.11 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=50.87;MQ0=0;QD=36.34;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=POTEKP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397487 GT:AD:DP:GQ:PL 1/1:0,24:24:69.20:905,69,0
2 132358779 rs6430894 G A 89.85 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.44;MQ0=0;QD=29.95;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=POTEKP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397487 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:122,9,0
2 132358911 rs6430895 G A 1664.20 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=52.03;MQ0=0;QD=36.18;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=POTEKP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397487 GT:AD:DP:GQ:PL 1/1:0,46:46:99:1697,126,0
2 132359034 rs6430896 A G 5167.37 PASS AC=2;AF=1.00;AN=2;DB;DP=171;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=43.82;MQ0=6;QD=30.22;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=POTEKP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397487 GT:AD:DP:GQ:PL 1/1:0,171:171:99:5167,409,0
2 132359063 rs60230063 A G 6488.89 PASS AC=2;AF=1.00;AN=2;DB;DP=194;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=49.85;MQ0=0;QD=33.45;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=POTEKP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397487 GT:AD:DP:GQ:PL 1/1:0,192:194:99:6489,487,0
2 132359089 rs60809087 C A 6521.97 PASS AC=2;AF=1.00;AN=2;DB;DP=194;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=6.169;MQ=52.65;MQ0=0;QD=33.62;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=POTEKP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397487 GT:AD:DP:GQ:PL 1/1:0,194:194:99:6522,491,0
2 132359185 rs62176601 T C 1296.17 PASS AB=0.54;AC=1;AF=0.50;AN=2;BaseQRankSum=3.014;DB;DP=113;Dels=0.0;FS=1.243;HRun=0;HaplotypeScore=2.4328;MQ=51.11;MQ0=4;MQRankSum=-0.689;QD=11.47;ReadPosRankSum=0.071;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=POTEKP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397487 GT:AD:DP:GQ:PL 0/1:61,52:113:99:1326,0,1862
2 132359263 rs60766309 T C 744.01 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=37.76;MQ0=3;QD=23.25;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=POTEKP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397487 GT:AD:DP:GQ:PL 1/1:0,32:32:66.18:777,66,0
2 132359348 rs59469665 T C 143.23 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=37.32;MQ0=0;QD=28.65;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=POTEKP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397487 GT:AD:DP:GQ:PL 1/1:0,5:5:15.04:176,15,0
2 132359357 rs57124140 T C 173.61 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=36.07;MQ0=0;QD=28.94;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=POTEKP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397487 GT:AD:DP:GQ:PL 1/1:0,6:6:18.05:206,18,0
2 132359416 rs13026912 G T 35.63 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=29.0;MQ0=0;QD=17.81;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=POTEKP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397487 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:67,6,0
2 132361453 rs6720928 T C 213.07 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.51;MQ0=0;QD=35.51;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=snRNA;SNPEFF_GENE_NAME=U6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000516147 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:246,18,0
2 132361518 rs6757779 G A 1193.63 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.11;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=snRNA;SNPEFF_GENE_NAME=U6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000516147 GT:AD:DP:GQ:PL 1/1:0,34:34:93.23:1227,93,0
2 132361543 rs6717542 A G 2010.90 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.67;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=snRNA;SNPEFF_GENE_NAME=U6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000516147 GT:AD:DP:GQ:PL 1/1:0,52:52:99:2044,147,0
2 132361854 rs10153598 G A 49.99 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=snRNA;SNPEFF_GENE_NAME=U6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000516147 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
2 132366923 rs1979998 G T 4142.92 MQFilter40 AC=2;AF=1.00;AN=2;BaseQRankSum=-1.252;DB;DP=163;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.5784;MQ=34.04;MQ0=9;MQRankSum=2.361;QD=25.42;ReadPosRankSum=-0.555;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=POTEKP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397487 GT:AD:DP:GQ:PL 1/1:4,158:163:99:4143,315,0
2 132366994 rs1979997 A G 5885.32 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=230;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.8208;MQ=37.6;MQ0=8;QD=25.59;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=POTEKP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397487 GT:AD:DP:GQ:PL 1/1:0,230:230:99:5885,511,0
2 132367062 rs113349055 G GT 1415.31 PASS AB=0.631;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.768;DB;DP=96;FS=0.0;HRun=11;HaplotypeScore=428.8117;IndelType=I;MQ=48.82;MQ0=1;MQRankSum=0.216;QD=14.3;ReadPosRankSum=-0.664;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=POTEKP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397487 GT:AD:DP:GQ:PL 0/1:40,57:96:99:1454,0,101
2 132368575 rs34671251 T TTTAA 1002.64 PASS AC=2;AF=1.00;AN=2;DB;DP=16;FS=0.0;HRun=0;HaplotypeScore=50.468;IndelType=I;MQ=33.62;MQ0=2;QD=50.13;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=POTEKP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397487 GT:AD:DP:GQ:PL 1/1:3,16:16:42.14:1045,42,0
2 132368971 rs13024022 C T 548.76 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9987;MQ=59.82;MQ0=0;QD=34.3;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=POTEKP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397487 GT:AD:DP:GQ:PL 1/1:0,16:16:45.13:582,45,0
2 132369178 rs6752868 T C 8607 PASS AC=2;AF=1.00;AN=2;DB;DP=250;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.6418;MQ=57.46;MQ0=0;QD=34.43;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=POTEKP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397487 GT:AD:DP:GQ:PL 1/1:0,250:250:99:8607,647,0
2 132369332 rs6743830 C T 5387.50 PASS AC=2;AF=1.00;AN=2;DB;DP=146;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=58.02;MQ0=0;QD=36.9;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=POTEKP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397487 GT:AD:DP:GQ:PL 1/1:1,145:146:99:5387,400,0
2 132369440 rs10754930 A C 1089.74 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.65;MQ0=0;QD=36.32;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=POTEKP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397487 GT:AD:DP:GQ:PL 1/1:0,30:30:90.26:1123,90,0
2 132369476 rs10754931 A G 787.68 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.43;MQ0=0;QD=37.51;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=POTEKP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397487 GT:AD:DP:GQ:PL 1/1:0,21:21:63.18:821,63,0
2 132381804 rs56236195 C T 115.28 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=2.793;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=41.47;MQ0=0;MQRankSum=-0.529;QD=9.61;ReadPosRankSum=0.135;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=POTEKP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397487 GT:AD:DP:GQ:PL 0/1:7,5:12:99:145,0,209
2 132381821 rs55988855 G T 208.47 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=54.61;MQ0=0;QD=34.75;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=POTEKP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397487 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:241,18,0
2 132384339 rs13011244 C T 2677.77 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.221;DB;DP=89;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.9298;MQ=58.95;MQ0=0;MQRankSum=-2.384;QD=30.09;ReadPosRankSum=-0.268;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=POTEKP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397487 GT:AD:DP:GQ:PL 1/1:4,85:89:99:2711,133,0
2 132384381 rs12991373 G A 1582.84 PASS AB=0.441;AC=1;AF=0.50;AN=2;BaseQRankSum=3.099;DB;DP=93;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8321;MQ=58.72;MQ0=0;MQRankSum=2.107;QD=17.02;ReadPosRankSum=0.76;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=POTEKP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397487 GT:AD:DP:GQ:PL 0/1:41,52:93:99:1613,0,1205
2 132384588 rs13011674 C G 2081.64 PASS AB=0.551;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.538;DB;DP=178;Dels=0.0;FS=7.598;HRun=0;HaplotypeScore=1.9385;MQ=56.62;MQ0=0;MQRankSum=2.228;QD=11.69;ReadPosRankSum=-0.024;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=POTEKP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397487 GT:AD:DP:GQ:PL 0/1:98,80:178:99:2112,0,2796
2 132384682 rs12692060 T C 4840.61 PASS AC=2;AF=1.00;AN=2;DB;DP=190;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.565;MQ=45.88;MQ0=4;QD=25.48;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=POTEKP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397487 GT:AD:DP:GQ:PL 1/1:0,190:190:99:4841,397,0
2 132384683 rs12692061 T G 4991.19 PASS AC=2;AF=1.00;AN=2;DB;DP=186;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.565;MQ=44.9;MQ0=5;QD=26.83;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=POTEKP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397487 GT:AD:DP:GQ:PL 1/1:0,186:186:99:4991,397,0
2 132491544 rs7599401 C G 1859.63 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.03;MQ0=1;QD=30.49;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf27A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355171 GT:AD:DP:GQ:PL 1/1:0,61:61:99:1893,141,0
2 132491708 rs10191790 G T 89.85 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.95;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf27A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355171 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:122,9,0
2 132508859 rs75157466 A G 41.82 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.683;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=47.21;MQ0=1;MQRankSum=-2.054;QD=4.18;ReadPosRankSum=0.248;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf27A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466372 GT:AD:DP:GQ:PL 0/1:6,4:10:71.81:72,0,226
2 132508861 rs79941793 T G 44.03 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.422;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=47.21;MQ0=1;MQRankSum=-2.054;QD=4.4;ReadPosRankSum=0.248;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf27A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466372 GT:AD:DP:GQ:PL 0/1:6,4:10:74.02:74,0,221
2 132558335 rs12992187 G T 326.47 PASS AB=0.353;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.055;DB;DP=17;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=54.57;MQ0=0;MQRankSum=1.357;QD=19.2;ReadPosRankSum=1.658;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf27B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303798 GT:AD:DP:GQ:PL 0/1:6,11:17:99:356,0,181
2 132586674 rs9282966 C G 104.40 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DB;DP=5;Dels=0.0;FS=3.979;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.731;QD=20.88;ReadPosRankSum=0.731;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC103564.6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000432853 GT:AD:DP:GQ:PL 0/1:1,4:5:20.21:134,0,20
2 132586953 rs7370086 C T 71.03 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=0.956;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.221;QD=8.88;ReadPosRankSum=0.322;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC103564.6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000432853 GT:AD:DP:GQ:PL 0/1:5,3:8:99:101,0,141
2 132860647 rs62164214 C T 80.67 QDFilter2 AB=0.822;AC=1;AF=0.50;AN=2;BaseQRankSum=1.347;DB;DP=101;Dels=0.0;FS=21.415;HRun=0;HaplotypeScore=9.3021;MQ=47.21;MQ0=0;MQRankSum=-5.901;QD=0.8;ReadPosRankSum=-1.075;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC098826.4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000433943 GT:AD:DP:GQ:PL 0/1:83,18:101:99:111,0,2541
2 132860794 rs149354523 T C 130.32 MQFilter40;QDFilter2 AB=0.73;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.742;DB;DP=89;Dels=0.0;FS=5.885;HRun=0;HaplotypeScore=0.9159;MQ=33.11;MQ0=3;MQRankSum=-4.263;QD=1.46;ReadPosRankSum=-0.311;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC098826.4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000433943 GT:AD:DP:GQ:PL 0/1:65,24:89:99:160,0,1750
2 132860798 . C T 70.90 MQFilter40;QDFilter2 AB=0.742;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.879;DP=89;Dels=0.0;FS=3.739;HRun=0;HaplotypeScore=0.9998;MQ=31.99;MQ0=5;MQRankSum=-4.338;QD=0.8;ReadPosRankSum=-0.717;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC098826.4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000433943 GT:AD:DP:GQ:PL 0/1:66,23:89:99:101,0,1686
2 132861547 . T A 156.85 MQFilter40;QDFilter2 AB=0.829;AC=1;AF=0.50;AN=2;BaseQRankSum=2.965;DP=188;Dels=0.0;FS=9.863;HRun=2;HaplotypeScore=0.0;MQ=17.1;MQ0=84;MQRankSum=0.177;QD=0.83;ReadPosRankSum=0.54;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC098826.4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000433943 GT:AD:DP:GQ:PL 0/1:155,32:188:99:187,0,1584
2 132861599 rs62164215 G T 349.75 MQFilter40;QDFilter2 AB=0.649;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.892;DB;DP=188;Dels=0.0;FS=6.021;HRun=1;HaplotypeScore=0.0;MQ=13.8;MQ0=121;MQRankSum=-0.955;QD=1.86;ReadPosRankSum=0.968;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC098826.4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000433943 GT:AD:DP:GQ:PL 0/1:122,66:188:99:380,0,680
2 132861606 . G A 412.65 MQFilter40 AB=0.646;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.818;DP=192;Dels=0.0;FS=3.153;HRun=0;HaplotypeScore=0.0;MQ=14.82;MQ0=118;MQRankSum=-0.506;QD=2.15;ReadPosRankSum=0.228;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC098826.4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000433943 GT:AD:DP:GQ:PL 0/1:124,68:192:99:443,0,748
2 132861700 rs75693475 G C 991.67 MQFilter40 AB=0.635;AC=1;AF=0.50;AN=2;BaseQRankSum=0.831;DB;DP=197;Dels=0.0;FS=16.865;HRun=0;HaplotypeScore=2.6639;MQ=30.03;MQ0=65;MQRankSum=-0.258;QD=5.03;ReadPosRankSum=0.272;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC098826.4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000433943 GT:AD:DP:GQ:PL 0/1:125,72:197:99:1022,0,2085
2 132861737 rs72483724 G A 1260.14 MQFilter40 AB=0.632;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.591;DB;DP=154;Dels=0.0;FS=21.704;HRun=2;HaplotypeScore=2.7822;MQ=37.43;MQ0=22;MQRankSum=-1.172;QD=8.18;ReadPosRankSum=0.091;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC098826.4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000433943 GT:AD:DP:GQ:PL 0/1:96,56:154:99:1290,0,2463
2 132861786 rs74206111 C A 349.21 MQFilter40 AB=0.809;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.126;DB;DP=110;Dels=0.0;FS=15.356;HRun=0;HaplotypeScore=1.9733;MQ=39.45;MQ0=0;MQRankSum=-0.388;QD=3.17;ReadPosRankSum=0.167;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC098826.4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000433943 GT:AD:DP:GQ:PL 0/1:89,21:110:99:379,0,2510
2 132905579 . G T 216.82 MQFilter40 AB=0.609;AC=1;AF=0.50;AN=2;BaseQRankSum=0.664;DP=46;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=32.26;MQ0=6;MQRankSum=-1.668;QD=4.71;ReadPosRankSum=0.339;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ANKRD30BL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465868 GT:AD:DP:GQ:PL 0/1:28,18:46:99:247,0,760
2 132905601 . T C 227.19 MQFilter40 AB=0.694;AC=1;AF=0.50;AN=2;BaseQRankSum=3.636;DP=72;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.5003;MQ=39.36;MQ0=7;MQRankSum=-3.464;QD=3.16;ReadPosRankSum=1.347;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ANKRD30BL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465868 GT:AD:DP:GQ:PL 0/1:50,22:72:99:257,0,1546
2 132905626 . A G 285.70 PASS AB=0.692;AC=1;AF=0.50;AN=2;BaseQRankSum=-6.796;DP=104;Dels=0.0;FS=4.709;HRun=0;HaplotypeScore=0.0;MQ=41.7;MQ0=7;MQRankSum=-5.837;QD=2.75;ReadPosRankSum=-1.032;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ANKRD30BL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465868 GT:AD:DP:GQ:PL 0/1:72,32:104:99:316,0,2396
2 132905664 . G T 176.48 QDFilter2 AB=0.808;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.321;DP=177;Dels=0.0;FS=11.472;HRun=3;HaplotypeScore=12.8627;MQ=46.69;MQ0=6;MQRankSum=-7.241;QD=1.0;ReadPosRankSum=0.141;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ANKRD30BL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465868 GT:AD:DP:GQ:PL 0/1:143,34:177:99:206,0,4303
2 132905682 . T C 395.34 QDFilter2 AB=0.784;AC=1;AF=0.50;AN=2;BaseQRankSum=0.519;DP=222;Dels=0.0;FS=3.351;HRun=0;HaplotypeScore=2.0463;MQ=47.05;MQ0=5;MQRankSum=-7.679;QD=1.78;ReadPosRankSum=-4.663;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ANKRD30BL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465868 GT:AD:DP:GQ:PL 0/1:174,48:222:99:425,0,5127
2 132905693 rs150889759 T C 354.53 QDFilter2 AB=0.799;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.423;DB;DP=234;Dels=0.0;FS=4.633;HRun=0;HaplotypeScore=3.1751;MQ=48.02;MQ0=5;MQRankSum=-7.035;QD=1.52;ReadPosRankSum=-3.705;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ANKRD30BL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465868 GT:AD:DP:GQ:PL 0/1:187,47:234:99:385,0,5520
2 132905703 rs144342094 C G 423.50 QDFilter2 AB=0.789;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.267;DB;DP=247;DS;Dels=0.0;FS=13.133;HRun=0;HaplotypeScore=2.6515;MQ=48.28;MQ0=3;MQRankSum=-7.859;QD=1.71;ReadPosRankSum=-3.307;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ANKRD30BL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465868 GT:AD:DP:GQ:PL 0/1:195,52:247:99:453,0,6024
2 132905706 rs142209162 A G 432.84 QDFilter2 AB=0.784;AC=1;AF=0.50;AN=2;BaseQRankSum=2.03;DB;DP=250;DS;Dels=0.0;FS=31.047;HRun=0;HaplotypeScore=1.581;MQ=48.31;MQ0=3;MQRankSum=-7.132;QD=1.73;ReadPosRankSum=-3.306;SNPEFF_AMINO_ACID_CHANGE=*259Q;SNPEFF_CODON_CHANGE=Tag/Cag;SNPEFF_EFFECT=STOP_LOST;SNPEFF_EXON_ID=exon_2_132905480_132905801;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ANKRD30BL;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000409867 GT:AD:DP:GQ:PL 0/1:196,54:250:99:463,0,5902
2 132905741 rs111770980 G A 516.19 PASS AB=0.8;AC=1;AF=0.50;AN=2;BaseQRankSum=5.317;DB;DP=250;DS;Dels=0.0;FS=17.634;HRun=0;HaplotypeScore=2.5585;MQ=49.41;MQ0=1;MQRankSum=-7.813;QD=2.06;ReadPosRankSum=4.143;SNPEFF_AMINO_ACID_CHANGE=T247M;SNPEFF_CODON_CHANGE=aCg/aTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_132905480_132905801;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ANKRD30BL;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000409867 GT:AD:DP:GQ:PL 0/1:200,50:250:99:546,0,5626
2 132905792 rs189049364 G C 75.97 QDFilter2 AB=0.856;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.404;DB;DP=175;DS;Dels=0.0;FS=3.792;HRun=0;HaplotypeScore=3.0564;MQ=52.58;MQ0=2;MQRankSum=-6.566;QD=0.43;ReadPosRankSum=-4.095;SNPEFF_AMINO_ACID_CHANGE=S230C;SNPEFF_CODON_CHANGE=tCt/tGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_132905480_132905801;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ANKRD30BL;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000409867 GT:AD:DP:GQ:PL 0/1:149,25:175:99:106,0,4880
2 132914561 rs79828184 G A 790.44 MQFilter40 AB=0.572;AC=1;AF=0.50;AN=2;BaseQRankSum=5.75;DB;DP=250;DS;Dels=0.0;FS=17.102;HRun=1;HaplotypeScore=1.9849;MQ=39.69;MQ0=53;MQRankSum=-10.131;QD=3.16;ReadPosRankSum=-0.93;SNPEFF_AMINO_ACID_CHANGE=I164;SNPEFF_CODON_CHANGE=atC/atT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_132914546_132914719;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ANKRD30BL;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000409867 GT:AD:DP:GQ:PL 0/1:143,107:250:99:820,0,4142
2 133014431 rs72869460 C T 34.65 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.86;MQ0=0;MQRankSum=0.736;QD=11.55;ReadPosRankSum=0.736;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ANKRD30BL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470729 GT:AD:DP:GQ:PL 0/1:1,2:3:31.62:65,0,32
2 133014476 rs62165008 A G 37.99 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=56.21;MQ0=0;MQRankSum=-0.358;QD=7.6;ReadPosRankSum=-1.231;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ANKRD30BL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470729 GT:AD:DP:GQ:PL 0/1:2,3:5:58.83:68,0,59
2 133014497 . G C 74.93 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=0.684;DP=8;Dels=0.0;FS=3.332;HRun=0;HaplotypeScore=0.0;MQ=54.59;MQ0=0;MQRankSum=-1.92;QD=9.37;ReadPosRankSum=-0.956;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ANKRD30BL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470729 GT:AD:DP:GQ:PL 0/1:3,5:8:90.89:105,0,91
2 133014504 rs79813268 G T 74.92 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.322;DB;DP=8;Dels=0.0;FS=3.332;HRun=0;HaplotypeScore=0.9789;MQ=54.59;MQ0=0;MQRankSum=-1.92;QD=9.37;ReadPosRankSum=-0.684;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ANKRD30BL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470729 GT:AD:DP:GQ:PL 0/1:3,5:8:99:105,0,104
2 133014510 rs9287404 T C 61.70 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=7;Dels=0.0;FS=3.68;HRun=2;HaplotypeScore=0.9789;MQ=55.22;MQ0=0;MQRankSum=-0.55;QD=8.81;ReadPosRankSum=0.55;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ANKRD30BL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470729 GT:AD:DP:GQ:PL 0/1:3,4:7:91.69:92,0,107
2 133014602 rs75245503 G C 30.75 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.55;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=46.38;MQ0=0;MQRankSum=-1.754;QD=3.84;ReadPosRankSum=-0.937;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ANKRD30BL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470729 GT:AD:DP:GQ:PL 0/1:4,4:8:60.74:61,0,132
2 133014612 rs74853538 A C 64.92 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=2.219;DB;DP=11;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9983;MQ=47.91;MQ0=0;MQRankSum=-2.219;QD=5.9;ReadPosRankSum=-0.729;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ANKRD30BL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470729 GT:AD:DP:GQ:PL 0/1:5,6:11:94.91:95,0,155
2 133066642 rs2598822 T C 32.64 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.61;MQ0=0;MQRankSum=-1.231;QD=6.53;ReadPosRankSum=-1.231;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=ZNF806;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000424130 GT:AD:DP:GQ:PL 0/1:3,2:5:62.63:63,0,74
2 133066724 rs140656838 AGAT A 307.67 PASS AB=0.609;AC=1;AF=0.50;AN=2;BaseQRankSum=2.637;DB;DP=13;FS=0.0;HRun=0;HaplotypeScore=60.9271;IndelType=D;MQ=50.0;MQ0=0;MQRankSum=-1.239;QD=21.98;ReadPosRankSum=1.932;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=ZNF806;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000424130 GT:AD:DP:GQ:PL 0/1:5,9:13:99:347,0,216
2 133066879 rs2677610 G A 1067.22 PASS AB=0.544;AC=1;AF=0.50;AN=2;BaseQRankSum=4.799;DB;DP=103;Dels=0.0;FS=4.006;HRun=0;HaplotypeScore=2.6297;MQ=52.99;MQ0=1;MQRankSum=-3.031;QD=10.36;ReadPosRankSum=0.581;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=ZNF806;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000424130 GT:AD:DP:GQ:PL 0/1:56,47:103:99:1097,0,1549
2 133066967 rs57269088 A AGGT 1092.95 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.958;DB;DP=54;FS=0.0;HRun=0;HaplotypeScore=253.7626;IndelType=I;MQ=48.87;MQ0=0;MQRankSum=-4.159;QD=17.35;ReadPosRankSum=2.757;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=ZNF806;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000424130 GT:AD:DP:GQ:PL 0/1:36,27:54:99:1132,0,1429
2 133067025 rs2459643 C G 170.99 PASS AB=0.656;AC=1;AF=0.50;AN=2;BaseQRankSum=0.992;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.4551;MQ=50.01;MQ0=0;MQRankSum=-2.341;QD=5.34;ReadPosRankSum=-0.079;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=ZNF806;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000424130 GT:AD:DP:GQ:PL 0/1:21,11:32:99:201,0,674
2 133067049 rs2443274 T C 407.57 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=49.94;MQ0=0;QD=25.47;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=ZNF806;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000424130 GT:AD:DP:GQ:PL 1/1:0,16:16:36.11:441,36,0
2 133067122 rs2598821 A G 47.51 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.95;MQ0=0;MQRankSum=0.727;QD=11.88;ReadPosRankSum=0.727;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=ZNF806;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000424130 GT:AD:DP:GQ:PL 0/1:1,3:4:24.41:77,0,24
2 133074683 rs7355726 T C 601.05 PASS AB=0.465;AC=1;AF=0.50;AN=2;BaseQRankSum=1.398;DB;DP=43;Dels=0.0;FS=1.571;HRun=0;HaplotypeScore=0.9734;MQ=50.99;MQ0=1;MQRankSum=-3.74;QD=13.98;ReadPosRankSum=1.725;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=ZNF806;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000424130 GT:AD:DP:GQ:PL 0/1:20,23:43:99:631,0,592
2 133074718 rs4953961 A C 899.95 PASS AB=0.362;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.403;DB;DP=58;Dels=0.0;FS=2.605;HRun=0;HaplotypeScore=0.8941;MQ=47.23;MQ0=2;MQRankSum=-3.805;QD=15.52;ReadPosRankSum=-1.898;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=ZNF806;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000424130 GT:AD:DP:GQ:PL 0/1:21,37:58:99:930,0,680
2 133074727 rs74763985 T G 990.24 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.792;DB;DP=66;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.6828;MQ=46.83;MQ0=2;MQRankSum=-5.218;QD=15.0;ReadPosRankSum=-1.577;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=ZNF806;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000424130 GT:AD:DP:GQ:PL 0/1:24,42:66:99:1020,0,735
2 133074745 rs7355686 A T 1082.32 PASS AB=0.394;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.988;DB;DP=71;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9159;MQ=47.69;MQ0=2;MQRankSum=-5.065;QD=15.24;ReadPosRankSum=0.532;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=ZNF806;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000424130 GT:AD:DP:GQ:PL 0/1:28,43:71:99:1112,0,845
2 133074759 rs62169564 A C 1148.69 PASS AB=0.45;AC=1;AF=0.50;AN=2;BaseQRankSum=2.581;DB;DP=80;Dels=0.0;FS=2.022;HRun=0;HaplotypeScore=2.7477;MQ=48.93;MQ0=2;MQRankSum=-5.879;QD=14.36;ReadPosRankSum=2.09;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=ZNF806;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000424130 GT:AD:DP:GQ:PL 0/1:36,44:80:99:1179,0,1104
2 133074851 rs7355688 A T 1367.32 PASS AB=0.49;AC=1;AF=0.50;AN=2;BaseQRankSum=3.424;DB;DP=98;Dels=0.0;FS=3.836;HRun=1;HaplotypeScore=3.7088;MQ=55.79;MQ0=0;MQRankSum=-1.439;QD=13.95;ReadPosRankSum=-0.321;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=ZNF806;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000424130 GT:AD:DP:GQ:PL 0/1:48,50:98:99:1397,0,1496
2 133074876 rs7355689 A G 1278.42 PASS AB=0.451;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.428;DB;DP=91;Dels=0.0;FS=1.787;HRun=0;HaplotypeScore=0.0;MQ=57.08;MQ0=0;MQRankSum=0.572;QD=14.05;ReadPosRankSum=-0.202;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=ZNF806;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000424130 GT:AD:DP:GQ:PL 0/1:41,50:91:99:1308,0,1281
2 133075027 rs7349198 G A 1320.21 PASS AB=0.534;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.845;DB;DP=104;Dels=0.0;FS=9.736;HRun=2;HaplotypeScore=1.7608;MQ=59.39;MQ0=0;MQRankSum=0.064;QD=12.69;ReadPosRankSum=1.733;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=ZNF806;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000424130 GT:AD:DP:GQ:PL 0/1:55,48:104:99:1350,0,1778
2 133075069 rs72991565 A G 576.13 PASS AB=0.723;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.56;DB;DP=83;Dels=0.0;FS=2.106;HRun=0;HaplotypeScore=0.0;MQ=59.46;MQ0=0;MQRankSum=-1.28;QD=6.94;ReadPosRankSum=0.888;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=ZNF806;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000424130 GT:AD:DP:GQ:PL 0/1:60,23:83:99:606,0,2015
2 133075104 rs7349364 C T 850.88 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=3.78;DB;DP=70;Dels=0.0;FS=4.834;HRun=0;HaplotypeScore=0.9958;MQ=58.99;MQ0=0;MQRankSum=-0.777;QD=12.16;ReadPosRankSum=-0.077;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=ZNF806;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000424130 GT:AD:DP:GQ:PL 0/1:40,30:70:99:881,0,1121
2 133075207 rs7349365 C T 754.99 PASS AB=0.639;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.217;DB;DP=72;Dels=0.0;FS=2.1;HRun=0;HaplotypeScore=0.9578;MQ=58.32;MQ0=0;MQRankSum=-1.366;QD=10.49;ReadPosRankSum=-0.029;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=ZNF806;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000424130 GT:AD:DP:GQ:PL 0/1:46,26:72:99:785,0,1434
2 133402607 rs1131671 C T 517.26 PASS AB=0.348;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.903;DB;DP=23;Dels=0.0;FS=10.414;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.634;QD=22.49;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LYPD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000345008 GT:AD:DP:GQ:PL 0/1:8,15:23:99:547,0,229
2 133403433 rs10179785 G A 31.76 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=15.88;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR39;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470071 GT:AD:DP:GQ:PL 1/1:0,2:2:6:63,6,0
2 133425912 rs2709533 C T 583.01 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.29;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NCKAP5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317721 GT:AD:DP:GQ:PL 1/1:0,17:17:48.15:616,48,0
2 133426183 rs2709532 G C 326.47 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.65;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NCKAP5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317721 GT:AD:DP:GQ:PL 1/1:0,10:10:27.09:359,27,0
2 133489401 rs17397142 A G 912.07 PASS AB=0.529;AC=1;AF=0.50;AN=2;BaseQRankSum=2.404;DB;DP=68;Dels=0.0;FS=0.945;HRun=0;HaplotypeScore=0.9997;MQ=59.45;MQ0=0;MQRankSum=0.797;QD=13.41;ReadPosRankSum=0.985;SNPEFF_AMINO_ACID_CHANGE=D1784;SNPEFF_CODON_CHANGE=gaT/gaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_133489310_133489624;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NCKAP5;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000317721 GT:AD:DP:GQ:PL 0/1:36,32:68:99:942,0,1054
2 133489601 rs56284623 A G 897.95 PASS AB=0.58;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.371;DB;DP=69;Dels=0.0;FS=1.981;HRun=0;HaplotypeScore=0.0;MQ=59.06;MQ0=0;MQRankSum=1.903;QD=13.01;ReadPosRankSum=1.586;SNPEFF_AMINO_ACID_CHANGE=L1718;SNPEFF_CODON_CHANGE=Ttg/Ctg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_133489310_133489624;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NCKAP5;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000317721 GT:AD:DP:GQ:PL 0/1:40,29:69:99:928,0,1241
2 133539375 rs12991144 T A 557.02 PASS AB=0.323;AC=1;AF=0.50;AN=2;BaseQRankSum=2.768;DB;DP=31;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.993;QD=17.97;ReadPosRankSum=1.247;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NCKAP5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317721 GT:AD:DP:GQ:PL 0/1:10,21:31:99:587,0,323
2 133539460 rs6717116 A T 1447.56 PASS AB=0.523;AC=1;AF=0.50;AN=2;BaseQRankSum=1.608;DB;DP=128;Dels=0.0;FS=1.333;HRun=4;HaplotypeScore=2.5568;MQ=59.82;MQ0=0;MQRankSum=-1.121;QD=11.31;ReadPosRankSum=-1.536;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NCKAP5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317721 GT:AD:DP:GQ:PL 0/1:67,61:128:99:1478,0,2261
2 133539566 rs6730282 G A 3304.59 PASS AB=0.548;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.249;DB;DP=250;DS;Dels=0.0;FS=0.465;HRun=0;HaplotypeScore=1.7337;MQ=59.74;MQ0=0;MQRankSum=0.475;QD=13.22;ReadPosRankSum=-0.76;SNPEFF_AMINO_ACID_CHANGE=H1606;SNPEFF_CODON_CHANGE=caC/caT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_133539513_133543291;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NCKAP5;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000317721 GT:AD:DP:GQ:PL 0/1:137,113:250:99:3305,0,4372
2 133540605 rs13016342 G T 1961.69 PASS AB=0.479;AC=1;AF=0.50;AN=2;BaseQRankSum=1.552;DB;DP=119;Dels=0.0;FS=7.27;HRun=1;HaplotypeScore=0.734;MQ=59.61;MQ0=0;MQRankSum=0.243;QD=16.48;ReadPosRankSum=1.083;SNPEFF_AMINO_ACID_CHANGE=P1260Q;SNPEFF_CODON_CHANGE=cCa/cAa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_133539513_133543291;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NCKAP5;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000317721 GT:AD:DP:GQ:PL 0/1:57,62:119:99:1992,0,1725
2 133541444 rs12691829 T C 1451.44 PASS AB=0.451;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.165;DB;DP=91;Dels=0.0;FS=4.088;HRun=1;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=0.367;QD=15.95;ReadPosRankSum=0.994;SNPEFF_AMINO_ACID_CHANGE=P980;SNPEFF_CODON_CHANGE=ccA/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_133539513_133543291;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NCKAP5;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000317721 GT:AD:DP:GQ:PL 0/1:41,50:91:99:1481,0,1303
2 133541454 rs12691830 A G 1466.92 PASS AB=0.409;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.8;DB;DP=88;Dels=0.0;FS=2.929;HRun=0;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=-0.554;QD=16.67;ReadPosRankSum=-0.527;SNPEFF_AMINO_ACID_CHANGE=I977T;SNPEFF_CODON_CHANGE=aTt/aCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_133539513_133543291;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NCKAP5;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000317721 GT:AD:DP:GQ:PL 0/1:36,52:88:99:1497,0,1184
2 133541575 rs12611515 C T 587.27 PASS AB=0.558;AC=1;AF=0.50;AN=2;BaseQRankSum=2.433;DB;DP=43;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=59.57;MQ0=0;MQRankSum=0.599;QD=13.66;ReadPosRankSum=-1.113;SNPEFF_AMINO_ACID_CHANGE=V937I;SNPEFF_CODON_CHANGE=Gtc/Atc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_133539513_133543291;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NCKAP5;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000317721 GT:AD:DP:GQ:PL 0/1:24,19:43:99:617,0,722
2 133542014 rs12616282 T C 2512.84 PASS AB=0.51;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.785;DB;DP=199;Dels=0.0;FS=7.258;HRun=0;HaplotypeScore=7.1875;MQ=59.77;MQ0=0;MQRankSum=-1.943;QD=12.63;ReadPosRankSum=-1.066;SNPEFF_AMINO_ACID_CHANGE=A790;SNPEFF_CODON_CHANGE=gcA/gcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_133539513_133543291;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NCKAP5;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000317721 GT:AD:DP:GQ:PL 0/1:101,97:199:99:2543,0,3036
2 133542545 rs10191147 G A 1882.76 PASS AB=0.491;AC=1;AF=0.50;AN=2;BaseQRankSum=4.679;DB;DP=114;Dels=0.0;FS=0.72;HRun=0;HaplotypeScore=0.9159;MQ=59.6;MQ0=0;MQRankSum=0.066;QD=16.52;ReadPosRankSum=1.571;SNPEFF_AMINO_ACID_CHANGE=S613;SNPEFF_CODON_CHANGE=tcC/tcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_133539513_133543291;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NCKAP5;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000317721 GT:AD:DP:GQ:PL 0/1:56,58:114:99:1913,0,1640
2 133542585 rs17325719 C G 1494.57 PASS AB=0.554;AC=1;AF=0.50;AN=2;BaseQRankSum=0.15;DB;DP=112;Dels=0.0;FS=2.494;HRun=0;HaplotypeScore=1.6988;MQ=59.42;MQ0=0;MQRankSum=0.174;QD=13.34;ReadPosRankSum=-1.251;SNPEFF_AMINO_ACID_CHANGE=S600T;SNPEFF_CODON_CHANGE=aGt/aCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_133539513_133543291;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NCKAP5;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000317721 GT:AD:DP:GQ:PL 0/1:62,50:112:99:1525,0,1920
2 133554288 rs1868076 A G 1028.02 PASS AB=0.547;AC=1;AF=0.50;AN=2;BaseQRankSum=2.879;DB;DP=76;Dels=0.0;FS=1.888;HRun=1;HaplotypeScore=1.6649;MQ=60.0;MQ0=0;MQRankSum=-0.357;QD=13.53;ReadPosRankSum=1.687;SNPEFF_AMINO_ACID_CHANGE=R274;SNPEFF_CODON_CHANGE=cgT/cgC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_133554201_133554302;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NCKAP5;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000317721 GT:AD:DP:GQ:PL 0/1:41,34:76:99:1058,0,1307
2 133618220 rs1447549 A G 202.51 PASS AB=0.792;AC=1;AF=0.50;AN=2;BaseQRankSum=2.728;DB;DP=54;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.9011;MQ=59.57;MQ0=0;MQRankSum=0.638;QD=3.75;ReadPosRankSum=0.174;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NCKAP5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317721 GT:AD:DP:GQ:PL 0/1:42,11:54:99:233,0,1360
2 133618332 rs1447548 G T 35.41 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.38;QD=5.9;ReadPosRankSum=0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NCKAP5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317721 GT:AD:DP:GQ:PL 0/1:4,2:6:65.40:65,0,147
2 133618363 rs1447547 T C 39.99 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=19.99;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NCKAP5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317721 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:71,6,0
2 133626706 rs17326258 T C 30.88 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=10.29;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NCKAP5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317721 GT:AD:DP:GQ:PL 0/1:1,2:3:32.74:61,0,33
2 133721169 rs76742066 T C 227.43 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=0.347;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.582;QD=11.37;ReadPosRankSum=-0.964;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NCKAP5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317721 GT:AD:DP:GQ:PL 0/1:12,8:20:99:257,0,420
2 133881425 rs2278457 G A 81.16 PASS AB=0.733;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.371;DB;DP=15;Dels=0.0;FS=2.869;HRun=1;HaplotypeScore=0.8667;MQ=58.75;MQ0=0;MQRankSum=0.588;QD=5.41;ReadPosRankSum=-0.326;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NCKAP5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317721 GT:AD:DP:GQ:PL 0/1:11,4:15:99:111,0,378
2 133971448 rs13393624 T A 212.72 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.359;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.04;MQ0=0;MQRankSum=0.6;QD=17.73;ReadPosRankSum=-0.289;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NCKAP5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317721 GT:AD:DP:GQ:PL 0/1:4,8:12:83.36:243,0,83
2 134060719 rs7604084 T C 930.29 PASS AB=0.56;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.208;DB;DP=85;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9332;MQ=59.73;MQ0=0;MQRankSum=-1.15;QD=10.94;ReadPosRankSum=-1.223;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NCKAP5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317721 GT:AD:DP:GQ:PL 0/1:47,37:85:99:960,0,1515
2 135076046 rs4954132 T G 419.67 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.98;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MGAT5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281923 GT:AD:DP:GQ:PL 1/1:0,14:14:36.11:453,36,0
2 135076090 rs4954133 C T 778.74 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;QD=33.86;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MGAT5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281923 GT:AD:DP:GQ:PL 1/1:0,23:23:60.20:812,60,0
2 135076111 rs4954134 C G 1155.75 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9578;MQ=58.13;MQ0=0;QD=33.02;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MGAT5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281923 GT:AD:DP:GQ:PL 1/1:0,35:35:96.29:1189,96,0
2 135095637 rs12621027 C G 85.77 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.59;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MGAT5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281923 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:118,9,0
2 135096097 rs7598410 T C 387.45 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.29;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MGAT5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281923 GT:AD:DP:GQ:PL 1/1:0,12:12:33.08:420,33,0
2 135160755 rs3748900 G A 207.99 PASS AB=0.69;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.003;DB;DP=29;Dels=0.0;FS=1.987;HRun=0;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=-0.354;QD=7.17;ReadPosRankSum=0.778;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MGAT5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281923 GT:AD:DP:GQ:PL 0/1:20,9:29:99:238,0,715
2 135629927 rs12469941 C T 58.53 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=11.71;ReadPosRankSum=-0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACMSD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283054 GT:AD:DP:GQ:PL 0/1:2,3:5:59.65:89,0,60
2 135677471 rs3841862 A AGTTT 2195.39 PASS AB=0.703;AC=1;AF=0.50;AN=2;BaseQRankSum=-6.218;DB;DP=70;FS=0.0;HRun=0;HaplotypeScore=250.0415;IndelType=I;MQ=57.55;MQ0=0;MQRankSum=0.132;QD=30.92;ReadPosRankSum=0.207;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CCNT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264157 GT:AD:DP:GQ:PL 0/1:41,30:70:99:2234,0,1829
2 135694354 rs1823118 G C 241.95 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=0.193;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.5774;MQ=60.0;MQ0=0;MQRankSum=0.225;QD=16.13;ReadPosRankSum=-0.193;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CCNT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264157 GT:AD:DP:GQ:PL 0/1:6,8:15:99:272,0,197
2 135694379 rs1374289 C T 319.54 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.457;DB;DP=21;Dels=0.0;FS=3.136;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.675;QD=15.22;ReadPosRankSum=-1.528;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CCNT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264157 GT:AD:DP:GQ:PL 0/1:9,12:21:99:350,0,316
2 135700151 rs3816339 A T 242.06 PASS AB=0.56;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.903;DB;DP=25;Dels=0.0;FS=2.054;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.56;QD=9.68;ReadPosRankSum=0.082;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CCNT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264157 GT:AD:DP:GQ:PL 0/1:14,11:25:99:272,0,439
2 135710322 rs10166142 A G 1580.52 PASS AB=0.495;AC=1;AF=0.50;AN=2;BaseQRankSum=2.637;DB;DP=97;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.617;QD=16.29;ReadPosRankSum=-0.754;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CCNT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264157 GT:AD:DP:GQ:PL 0/1:48,49:97:99:1611,0,1552
2 135711516 rs3814355 C T 752.02 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.61;DB;DP=50;Dels=0.0;FS=1.093;HRun=0;HaplotypeScore=0.9832;MQ=59.25;MQ0=0;MQRankSum=-1.75;QD=15.04;ReadPosRankSum=-0.41;SNPEFF_AMINO_ACID_CHANGE=D322;SNPEFF_CODON_CHANGE=gaC/gaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_135710800_135711949;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CCNT2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000537343 GT:AD:DP:GQ:PL 0/1:25,25:50:99:782,0,860
2 135711657 rs3814354 G A 1593.66 PASS AB=0.436;AC=1;AF=0.50;AN=2;BaseQRankSum=0.808;DB;DP=101;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.94;MQ0=0;MQRankSum=-0.279;QD=15.78;ReadPosRankSum=1.147;SNPEFF_AMINO_ACID_CHANGE=K369;SNPEFF_CODON_CHANGE=aaG/aaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_135710800_135711949;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CCNT2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000537343 GT:AD:DP:GQ:PL 0/1:44,57:101:99:1624,0,1247
2 135740863 rs79960383 C A 2991.88 PASS AB=0.453;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.21;DB;DP=181;Dels=0.0;FS=0.671;HRun=0;HaplotypeScore=0.9997;MQ=59.79;MQ0=0;MQRankSum=-0.181;QD=16.53;ReadPosRankSum=-2.844;SNPEFF_AMINO_ACID_CHANGE=Q1104H;SNPEFF_CODON_CHANGE=caG/caT;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_135740750_135740901;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=YSK4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000392915 GT:AD:DP:GQ:PL 0/1:82,99:181:99:3022,0,2584
2 135741061 rs12623713 G A 34.94 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.72;QD=5.82;ReadPosRankSum=-0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=YSK4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315513 GT:AD:DP:GQ:PL 0/1:4,2:6:64.93:65,0,144
2 135741425 rs16831223 C A 536.31 PASS AB=0.614;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.636;DB;DP=57;Dels=0.0;FS=1.261;HRun=1;HaplotypeScore=1.3123;MQ=58.78;MQ0=0;MQRankSum=0.294;QD=9.41;ReadPosRankSum=-1.367;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=YSK4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315513 GT:AD:DP:GQ:PL 0/1:35,22:57:99:566,0,1082
2 135744007 rs3905317 T C 881.28 PASS AB=0.485;AC=1;AF=0.50;AN=2;BaseQRankSum=1.43;DB;DP=66;Dels=0.0;FS=8.59;HRun=1;HaplotypeScore=0.9987;MQ=59.65;MQ0=0;MQRankSum=-0.638;QD=13.35;ReadPosRankSum=0.222;SNPEFF_AMINO_ACID_CHANGE=E202G;SNPEFF_CODON_CHANGE=gAa/gGa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_135743370_135744611;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=YSK4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000437365 GT:AD:DP:GQ:PL 0/1:32,34:66:99:911,0,1071
2 135744416 rs1112542 C G 1579.93 PASS AB=0.485;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.814;DB;DP=103;Dels=0.0;FS=6.251;HRun=0;HaplotypeScore=1.367;MQ=59.78;MQ0=0;MQRankSum=0.657;QD=15.34;ReadPosRankSum=-0.769;SNPEFF_AMINO_ACID_CHANGE=E563Q;SNPEFF_CODON_CHANGE=Gag/Cag;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_135743370_135745823;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=YSK4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000358371 GT:AD:DP:GQ:PL 0/1:50,53:103:99:1610,0,1610
2 135745545 rs11899779 C T 704.71 PASS AB=0.478;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.936;DB;DP=46;Dels=0.0;FS=1.113;HRun=0;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=-0.011;QD=15.32;ReadPosRankSum=-0.341;SNPEFF_AMINO_ACID_CHANGE=R186;SNPEFF_CODON_CHANGE=agG/agA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_135743370_135745823;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=YSK4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000358371 GT:AD:DP:GQ:PL 0/1:22,24:46:99:735,0,718
2 135745722 rs10928526 A G 2111.80 PASS AB=0.447;AC=1;AF=0.50;AN=2;BaseQRankSum=2.897;DB;DP=123;Dels=0.0;FS=0.719;HRun=1;HaplotypeScore=3.8363;MQ=60.0;MQ0=0;MQRankSum=0.069;QD=17.17;ReadPosRankSum=-0.633;SNPEFF_AMINO_ACID_CHANGE=S127;SNPEFF_CODON_CHANGE=agT/agC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_135743370_135745823;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=YSK4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000358371 GT:AD:DP:GQ:PL 0/1:55,68:123:99:2142,0,1645
2 136467164 rs2304367 C A 465.29 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.02;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=R3HDM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264160 GT:AD:DP:GQ:PL 1/1:0,15:15:39.11:498,39,0
2 136511575 rs3213889 A G 205.63 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.7;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBXN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272638 GT:AD:DP:GQ:PL 1/1:0,8:8:21.06:239,21,0
2 136527443 rs113881162 G GTGAT 3486.93 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.525;DB;DP=64;FS=9.208;HRun=0;HaplotypeScore=203.7113;IndelType=I;MQ=53.61;MQ0=1;MQRankSum=0.069;QD=53.65;ReadPosRankSum=0.554;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBXN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272638 GT:AD:DP:GQ:PL 1/1:16,46:64:97.49:3487,97,0
2 136545844 rs1042712 C G 4909.72 PASS AC=2;AF=1.00;AN=2;DB;DP=134;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.5226;MQ=59.47;MQ0=0;QD=36.64;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBXN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272638 GT:AD:DP:GQ:PL 1/1:0,134:134:99:4910,364,0
2 136546110 rs2278544 A G 2913.52 PASS AC=2;AF=1.00;AN=2;DB;DP=90;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9997;MQ=59.74;MQ0=0;QD=32.37;SNPEFF_AMINO_ACID_CHANGE=A1856;SNPEFF_CODON_CHANGE=gcT/gcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_136545410_136546114;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LCT;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000264162 GT:AD:DP:GQ:PL 1/1:0,89:90:99:2947,223,0
2 136548116 rs892717 G C 84.06 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.02;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LCT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000452974 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:116,9,0
2 136548169 rs892716 A G 247.87 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.54;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LCT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000452974 GT:AD:DP:GQ:PL 1/1:0,9:9:21.07:281,21,0
2 136548192 rs1808756 G A 497.03 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.06;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LCT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000452974 GT:AD:DP:GQ:PL 1/1:0,16:16:42.13:530,42,0
2 136552512 rs76196399 A AC 227.91 PASS AC=2;AF=1.00;AN=2;DB;DP=6;FS=0.0;HRun=1;HaplotypeScore=21.6032;IndelType=I;MQ=60.0;MQ0=0;QD=37.99;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LCT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000455227 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:270,18,0
2 136552526 rs3816155 A C 76.33 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.44;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LCT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000455227 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:108,9,0
2 136555659 rs2322659 T C 1818.75 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=59.14;MQ0=0;QD=33.68;SNPEFF_AMINO_ACID_CHANGE=N1639S;SNPEFF_CODON_CHANGE=aAt/aGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_136555599_136555708;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LCT;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000264162 GT:AD:DP:GQ:PL 1/1:0,54:54:99:1852,138,0
2 136558157 rs748841 C T 1233.71 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.47;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LCT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264162 GT:AD:DP:GQ:PL 1/1:0,38:38:96.31:1267,96,0
2 136561557 rs2304371 G A 937.04 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.619;DB;DP=28;Dels=0.0;FS=4.058;HRun=1;HaplotypeScore=0.0;MQ=59.33;MQ0=0;MQRankSum=1.609;QD=33.47;ReadPosRankSum=0.619;SNPEFF_AMINO_ACID_CHANGE=L1536;SNPEFF_CODON_CHANGE=Ctg/Ttg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_136561500_136561698;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LCT;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000264162 GT:AD:DP:GQ:PL 1/1:1,27:28:38.25:970,38,0
2 136565028 rs10928549 C G 1276.30 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.13;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LCT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264162 GT:AD:DP:GQ:PL 1/1:0,41:41:96.32:1309,96,0
2 136567633 rs6430591 A G 91.49 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.95;MQ0=0;QD=22.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LCT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264162 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:124,9,0
2 136569848 rs12988076 C A 1866.45 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.94;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LCT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264162 GT:AD:DP:GQ:PL 1/1:0,55:55:99:1899,147,0
2 136575199 rs6719488 G T 902.73 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.11;SNPEFF_AMINO_ACID_CHANGE=G473;SNPEFF_CODON_CHANGE=ggC/ggA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_136574911_136575631;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LCT;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000264162 GT:AD:DP:GQ:PL 1/1:0,25:25:69.22:936,69,0
2 136575534 rs4954449 T C 2675.01 PASS AC=2;AF=1.00;AN=2;DB;DP=83;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9983;MQ=59.44;MQ0=0;QD=32.23;SNPEFF_AMINO_ACID_CHANGE=I362V;SNPEFF_CODON_CHANGE=Atc/Gtc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_136574911_136575631;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LCT;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000264162 GT:AD:DP:GQ:PL 1/1:0,83:83:99:2708,202,0
2 136581354 rs895284 T G 167.63 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.53;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LCT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264162 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:200,15,0
2 136586958 rs10186843 C A 78.80 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.27;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LCT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264162 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:111,9,0
2 136594158 rs2236783 G A 1759.54 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.82;SNPEFF_AMINO_ACID_CHANGE=T194;SNPEFF_CODON_CHANGE=acC/acT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_136594100_136594750;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LCT;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000264162 GT:AD:DP:GQ:PL 1/1:0,59:59:99:1793,132,0
2 136602246 . C T 899.23 PASS AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=2.198;DP=57;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=1.446;QD=15.78;ReadPosRankSum=1.239;SNPEFF_AMINO_ACID_CHANGE=E740K;SNPEFF_CODON_CHANGE=Gag/Aag;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_136602115_136602254;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MCM6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000264156 GT:AD:DP:GQ:PL 0/1:30,27:57:99:929,0,820
2 136610598 rs4988226 A G 404.59 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MCM6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264156 GT:AD:DP:GQ:PL 1/1:0,12:12:36.10:438,36,0
2 136614255 rs309180 G A 1052.81 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MCM6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264156 GT:AD:DP:GQ:PL 1/1:0,29:29:78.26:1086,78,0
2 136616754 rs182549 C T 120.27 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MCM6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264156 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:153,12,0
2 136622825 rs309177 A G 767.39 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.54;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MCM6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264156 GT:AD:DP:GQ:PL 1/1:0,21:21:60.18:800,60,0
2 136873549 rs2680880 A T 466.51 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=58.84;MQ0=0;QD=19.44;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CXCR4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000241393 GT:AD:DP:GQ:PL 1/1:0,24:24:51.07:500,51,0
2 137402954 rs1446102 A C 1453.22 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;QD=34.6;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AC092786.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408835 GT:AD:DP:GQ:PL 1/1:0,42:42:99:1486,114,0
2 137639616 rs1465612 C T 1103.01 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=39.39;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=THSD7B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409968 GT:AD:DP:GQ:PL 1/1:0,28:28:84.28:1136,84,0
2 137640006 rs11298935 CT C 421.62 PASS AC=2;AF=1.00;AN=2;DB;DP=17;FS=0.0;HRun=8;HaplotypeScore=41.304;IndelType=D;MQ=60.0;MQ0=0;QD=24.8;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=THSD7B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272643 GT:AD:DP:GQ:PL 1/1:1,16:17:48.08:464,48,0
2 137814477 rs17727482 C G 4570.94 PASS AC=2;AF=1.00;AN=2;DB;DP=147;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=59.59;MQ0=0;QD=31.09;SNPEFF_AMINO_ACID_CHANGE=P178;SNPEFF_CODON_CHANGE=ccC/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_137813990_137814800;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=THSD7B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000413152 GT:AD:DP:GQ:PL 1/1:2,145:147:99:4571,382,0
2 137872992 rs745908 A G 82.87 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.62;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=THSD7B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272643 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:115,9,0
2 137917922 rs4954474 T A 3153.47 PASS AC=2;AF=1.00;AN=2;DB;DP=93;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.75;MQ0=0;QD=33.91;SNPEFF_AMINO_ACID_CHANGE=D472E;SNPEFF_CODON_CHANGE=gaT/gaA;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_137917783_137917938;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=THSD7B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000413152 GT:AD:DP:GQ:PL 1/1:0,93:93:99:3186,244,0
2 138000226 rs7605259 T C 967.09 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=4.899;MQ=59.49;MQ0=0;QD=21.49;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=THSD7B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272643 GT:AD:DP:GQ:PL 1/1:0,45:45:96.16:1000,96,0
2 138163391 rs1551281 T C 1984.18 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.141;DB;DP=64;Dels=0.0;FS=4.934;HRun=0;HaplotypeScore=1.4942;MQ=59.71;MQ0=0;MQRankSum=-0.135;QD=31.0;ReadPosRankSum=-0.598;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=THSD7B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272643 GT:AD:DP:GQ:PL 1/1:2,62:64:99:2017,156,0
2 138163542 rs1551280 A T 171.92 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.65;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=THSD7B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272643 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:205,15,0
2 138169158 rs1463285 T C 4898.10 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.258;DB;DP=148;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.685;QD=33.1;ReadPosRankSum=0.997;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=THSD7B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272643 GT:AD:DP:GQ:PL 1/1:2,146:148:99:4898,324,0
2 138208631 rs1453302 G T 1177.09 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9469;MQ=60.0;MQ0=0;QD=32.7;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=THSD7B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272643 GT:AD:DP:GQ:PL 1/1:0,36:36:93.27:1210,93,0
2 138378351 rs58339575 AG A 2010.85 PASS AB=0.671;AC=1;AF=0.50;AN=2;BaseQRankSum=8.274;DB;DP=116;FS=2.008;HRun=1;HaplotypeScore=412.8767;IndelType=D;MQ=60.29;MQ0=0;MQRankSum=0.754;QD=17.33;ReadPosRankSum=-0.249;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=THSD7B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272643 GT:AD:DP:GQ:PL 0/1:59,57:116:99:2050,0,2362
2 138378388 rs1448922 A G 1014.82 PASS AB=0.493;AC=1;AF=0.50;AN=2;BaseQRankSum=5.281;DB;DP=67;Dels=0.0;FS=3.08;HRun=3;HaplotypeScore=0.5784;MQ=59.86;MQ0=0;MQRankSum=-1.004;QD=15.15;ReadPosRankSum=0.597;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=THSD7B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272643 GT:AD:DP:GQ:PL 0/1:33,34:67:99:1045,0,1045
2 138420996 rs10206850 A G 2439.29 PASS AC=2;AF=1.00;AN=2;DB;DP=69;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=59.73;MQ0=0;QD=35.35;SNPEFF_AMINO_ACID_CHANGE=K1473R;SNPEFF_CODON_CHANGE=aAa/aGa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_138420953_138421145;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=THSD7B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000413152 GT:AD:DP:GQ:PL 1/1:0,69:69:99:2472,187,0
2 138434431 rs76999641 T C 43.12 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.56;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=THSD7B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272643 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:74,6,0
2 139308397 rs3086067 T TTC 324.02 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.168;DB;DP=27;FS=0.0;HRun=0;HaplotypeScore=93.7348;IndelType=I;MQ=57.56;MQ0=0;MQRankSum=-0.036;QD=12.0;ReadPosRankSum=1.173;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPOPL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000280098 GT:AD:DP:GQ:PL 0/1:18,9:27:99:363,0,358
2 139318315 rs66551604 T C 374.26 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=2.31;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.62;MQ0=0;MQRankSum=0.817;QD=17.82;ReadPosRankSum=0.036;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPOPL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000280098 GT:AD:DP:GQ:PL 0/1:9,12:21:99:404,0,298
2 139322129 rs16840717 G A 250.95 PASS AB=0.385;AC=1;AF=0.50;AN=2;BaseQRankSum=2.927;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.2;MQ0=0;MQRankSum=0.533;QD=19.3;ReadPosRankSum=-0.437;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPOPL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000280098 GT:AD:DP:GQ:PL 0/1:5,8:13:99:281,0,133
2 139326879 rs2889266 G C 129.24 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.31;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPOPL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420679 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:162,12,0
2 139429068 rs10803570 G A 3973.62 PASS AC=2;AF=1.00;AN=2;DB;DP=117;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7791;MQ=59.8;MQ0=0;QD=33.96;SNPEFF_AMINO_ACID_CHANGE=Y73;SNPEFF_CODON_CHANGE=taC/taT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_139428342_139429235;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NXPH2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000272641 GT:AD:DP:GQ:PL 1/1:0,117:117:99:3974,301,0
2 139429286 rs60855564 C T 902.39 PASS AB=0.509;AC=1;AF=0.50;AN=2;BaseQRankSum=4.167;DB;DP=55;Dels=0.0;FS=1.519;HRun=0;HaplotypeScore=1.9157;MQ=59.58;MQ0=0;MQRankSum=0.497;QD=16.41;ReadPosRankSum=0.059;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NXPH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272641 GT:AD:DP:GQ:PL 0/1:28,27:55:99:932,0,823
2 140584027 rs9789641 T A 88.62 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.16;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AC078851.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000415918 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:121,9,0
2 140992337 rs13387241 C A 331.78 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=2.957;DB;DP=24;Dels=0.0;FS=3.949;HRun=2;HaplotypeScore=0.0;MQ=59.03;MQ0=0;MQRankSum=0.732;QD=13.82;ReadPosRankSum=-1.786;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389484 GT:AD:DP:GQ:PL 0/1:10,14:24:99:362,0,295
2 141004513 rs11895946 C T 126.74 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.69;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389484 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:159,12,0
2 141004529 rs2129483 A G 146.55 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.31;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389484 GT:AD:DP:GQ:PL 1/1:0,5:5:15.04:179,15,0
2 141026986 rs12477489 G A 884.36 PASS AB=0.473;AC=1;AF=0.50;AN=2;BaseQRankSum=1.627;DB;DP=55;Dels=0.0;FS=10.237;HRun=0;HaplotypeScore=0.9159;MQ=60.0;MQ0=0;MQRankSum=0.11;QD=16.08;ReadPosRankSum=0.464;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389484 GT:AD:DP:GQ:PL 0/1:26,29:55:99:914,0,726
2 141027159 rs7581796 T C 69.54 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.937;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.55;QD=9.93;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389484 GT:AD:DP:GQ:PL 0/1:4,3:7:99:100,0,146
2 141032088 rs1386356 C T 677.10 PASS AB=0.447;AC=1;AF=0.50;AN=2;BaseQRankSum=0.839;DB;DP=47;Dels=0.0;FS=1.184;HRun=0;HaplotypeScore=0.0;MQ=59.6;MQ0=0;MQRankSum=-1.069;QD=14.41;ReadPosRankSum=1.827;SNPEFF_AMINO_ACID_CHANGE=T4287;SNPEFF_CODON_CHANGE=acG/acA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_141031993_141032167;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP1B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000544579 GT:AD:DP:GQ:PL 0/1:21,26:47:99:707,0,553
2 141083159 rs654051 T G 68.03 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=13.61;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389484 GT:AD:DP:GQ:PL 0/1:2,3:5:28.61:98,0,29
2 141113798 rs13017246 G A 240.20 PASS AB=0.412;AC=1;AF=0.50;AN=2;BaseQRankSum=3.269;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=55.8;MQ0=0;MQRankSum=0.244;QD=14.13;ReadPosRankSum=2.098;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389484 GT:AD:DP:GQ:PL 0/1:7,10:17:99:270,0,232
2 141130501 rs77729177 T C 899.74 PASS AB=0.534;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.216;DB;DP=58;Dels=0.0;FS=6.189;HRun=1;HaplotypeScore=0.0;MQ=59.6;MQ0=0;MQRankSum=0.281;QD=15.51;ReadPosRankSum=1.185;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389484 GT:AD:DP:GQ:PL 0/1:31,27:58:99:930,0,1097
2 141201763 rs4992954 T C 554.85 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.55;MQ0=0;QD=34.68;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389484 GT:AD:DP:GQ:PL 1/1:1,15:16:45.14:588,45,0
2 141253408 rs11683334 T C 87.78 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389484 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:120,9,0
2 141260668 rs4444457 A G 637.38 PASS AB=0.522;AC=1;AF=0.50;AN=2;BaseQRankSum=0.847;DB;DP=46;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.48;MQ0=0;MQRankSum=-0.539;QD=13.86;ReadPosRankSum=-0.385;SNPEFF_AMINO_ACID_CHANGE=Y2780;SNPEFF_CODON_CHANGE=taT/taC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_141260532_141260672;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP1B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000544579 GT:AD:DP:GQ:PL 0/1:24,22:46:99:667,0,760
2 141267744 rs1948051 T C 333.87 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.68;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389484 GT:AD:DP:GQ:PL 1/1:0,13:13:33.09:367,33,0
2 141272057 rs6430906 T A 75.88 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=53.95;MQ0=0;MQRankSum=0.727;QD=18.97;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389484 GT:AD:DP:GQ:PL 0/1:1,3:4:21.40:106,0,21
2 141274295 rs1542655 C T 32.05 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=55.21;MQ0=0;MQRankSum=-0.358;QD=6.41;ReadPosRankSum=-1.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389484 GT:AD:DP:GQ:PL 0/1:2,3:5:62.04:62,0,74
2 141274576 rs4954672 T C 1127.35 PASS AB=0.362;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.354;DB;DP=69;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9159;MQ=59.67;MQ0=0;MQRankSum=0.905;QD=16.34;ReadPosRankSum=-0.069;SNPEFF_AMINO_ACID_CHANGE=Q2615;SNPEFF_CODON_CHANGE=caA/caG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_141274458_141274580;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP1B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000544579 GT:AD:DP:GQ:PL 0/1:25,44:69:99:1157,0,772
2 141283603 rs1352047 T G 397.18 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389484 GT:AD:DP:GQ:PL 1/1:0,12:12:33.11:430,33,0
2 141284041 rs7562323 A G 122.55 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.64;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389484 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:155,12,0
2 141291841 rs10928755 T A 74.23 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.231;QD=12.37;ReadPosRankSum=1.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389484 GT:AD:DP:GQ:PL 0/1:2,4:6:62.75:104,0,63
2 141291878 rs11695464 C T 89.85 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.46;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389484 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:122,9,0
2 141294285 . G GA 102.38 PASS AB=0.796;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.342;DP=39;FS=5.228;HRun=13;HaplotypeScore=150.9119;IndelType=I;MQ=59.97;MQ0=0;MQRankSum=-0.171;QD=2.63;ReadPosRankSum=-1.342;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389484 GT:AD:DP:GQ:PL 0/1:25,10:39:99:141,0,276
2 141298467 rs6729619 A C 555.92 PASS AB=0.486;AC=1;AF=0.50;AN=2;BaseQRankSum=0.137;DB;DP=37;Dels=0.0;FS=2.191;HRun=1;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=-1.17;QD=15.02;ReadPosRankSum=0.289;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389484 GT:AD:DP:GQ:PL 0/1:18,19:37:99:586,0,604
2 141298674 rs13013854 T C 380.74 PASS AB=0.605;AC=1;AF=0.50;AN=2;BaseQRankSum=3.375;DB;DP=38;Dels=0.0;FS=6.671;HRun=0;HaplotypeScore=0.8941;MQ=58.9;MQ0=0;MQRankSum=1.463;QD=10.02;ReadPosRankSum=0.687;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389484 GT:AD:DP:GQ:PL 0/1:23,15:38:99:411,0,774
2 141298682 rs11694934 G C 305.68 PASS AB=0.606;AC=1;AF=0.50;AN=2;BaseQRankSum=1.64;DB;DP=33;Dels=0.0;FS=7.389;HRun=0;HaplotypeScore=0.0;MQ=58.73;MQ0=0;MQRankSum=0.313;QD=9.26;ReadPosRankSum=0.276;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389484 GT:AD:DP:GQ:PL 0/1:20,13:33:99:336,0,704
2 141298749 rs11694970 G C 102.24 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.536;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=2.18;QD=8.52;ReadPosRankSum=0.289;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389484 GT:AD:DP:GQ:PL 0/1:8,4:12:99:132,0,287
2 141299317 rs9287535 A G 934.62 PASS AB=0.459;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.615;DB;DP=61;Dels=0.0;FS=3.937;HRun=0;HaplotypeScore=1.7791;MQ=60.0;MQ0=0;MQRankSum=0.585;QD=15.32;ReadPosRankSum=-1.43;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389484 GT:AD:DP:GQ:PL 0/1:28,33:61:99:965,0,955
2 141457904 . G A 1753.07 PASS AB=0.464;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.216;DP=112;Dels=0.0;FS=2.496;HRun=0;HaplotypeScore=3.3271;MQ=60.0;MQ0=0;MQRankSum=1.246;QD=15.65;ReadPosRankSum=0.021;SNPEFF_AMINO_ACID_CHANGE=T2176;SNPEFF_CODON_CHANGE=acC/acT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_141457819_141458190;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP1B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000544579 GT:AD:DP:GQ:PL 0/1:52,60:112:99:1783,0,1522
2 141527013 rs13002947 A G 72.09 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.573;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.248;QD=8.01;ReadPosRankSum=0.573;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389484 GT:AD:DP:GQ:PL 0/1:6,3:9:99:102,0,188
2 141527190 rs10928069 A T 49.41 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.7;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389484 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
2 141528592 rs7599219 T C 499.02 PASS AB=0.474;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.078;DB;DP=38;Dels=0.0;FS=1.854;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.623;QD=13.13;ReadPosRankSum=-0.073;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389484 GT:AD:DP:GQ:PL 0/1:18,20:38:99:529,0,561
2 141533573 rs13009144 A G 56.34 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=1.386;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.296;QD=5.63;ReadPosRankSum=0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389484 GT:AD:DP:GQ:PL 0/1:7,3:10:86.33:86,0,249
2 141533662 rs996361 T C 613.16 PASS AB=0.371;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.358;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.47;MQ0=0;MQRankSum=0.119;QD=17.52;ReadPosRankSum=-0.119;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389484 GT:AD:DP:GQ:PL 0/1:13,22:35:99:643,0,434
2 141570937 rs3828265 G T 44.89 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=49.84;MQ0=0;QD=22.45;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389484 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:76,6,0
2 141571329 rs3749010 T C 2096.80 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=59.65;MQ0=0;QD=31.77;SNPEFF_AMINO_ACID_CHANGE=S1690;SNPEFF_CODON_CHANGE=tcA/tcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_141571226_141571375;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP1B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000544579 GT:AD:DP:GQ:PL 1/1:0,66:66:99:2130,175,0
2 141571440 rs17575847 C G 529.04 PASS AB=0.515;AC=1;AF=0.50;AN=2;BaseQRankSum=2.468;DB;DP=33;Dels=0.0;FS=6.435;HRun=0;HaplotypeScore=3.5579;MQ=60.0;MQ0=0;MQRankSum=-0.558;QD=16.03;ReadPosRankSum=0.306;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389484 GT:AD:DP:GQ:PL 0/1:17,16:33:99:559,0,498
2 141571456 rs78112099 G GA 254.34 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=3.752;DB;DP=25;FS=0.0;HRun=7;HaplotypeScore=129.9789;IndelType=I;MQ=60.0;MQ0=0;MQRankSum=-0.775;QD=10.17;ReadPosRankSum=0.589;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389484 GT:AD:DP:GQ:PL 0/1:15,10:25:99:293,0,307
2 141571480 rs17575875 A G 250.47 PASS AB=0.529;AC=1;AF=0.50;AN=2;BaseQRankSum=0.241;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.203;QD=14.73;ReadPosRankSum=-1.203;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389484 GT:AD:DP:GQ:PL 0/1:9,8:17:99:280,0,315
2 141598473 rs35745624 A AT 1913.05 PASS AC=2;AF=1.00;AN=2;DB;DP=49;FS=0.0;HRun=0;HaplotypeScore=106.0632;IndelType=I;MQ=61.07;MQ0=0;QD=39.04;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389484 GT:AD:DP:GQ:PL 1/1:1,48:49:99:1955,144,0
2 141625410 rs12987572 A C 537.62 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=3.591;DB;DP=38;Dels=0.0;FS=3.35;HRun=0;HaplotypeScore=0.0;MQ=59.01;MQ0=0;MQRankSum=-0.029;QD=14.15;ReadPosRankSum=0.35;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389484 GT:AD:DP:GQ:PL 0/1:19,19:38:99:568,0,629
2 141707694 rs1980343 C T 233.99 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.43;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389484 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:267,21,0
2 141709419 rs1429348 T G 781.29 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.07;MQ0=0;QD=31.25;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389484 GT:AD:DP:GQ:PL 1/1:0,25:25:66.20:814,66,0
2 141762830 rs13413663 C T 628.22 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.9;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389484 GT:AD:DP:GQ:PL 1/1:0,18:18:51.17:661,51,0
2 141771058 rs3791766 T A 910.27 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.03;MQ0=0;QD=37.93;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389484 GT:AD:DP:GQ:PL 1/1:0,24:24:72.23:943,72,0
2 141777763 rs12615322 G T 365.54 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389484 GT:AD:DP:GQ:PL 1/1:0,10:10:30.10:399,30,0
2 141806410 rs2140871 A C 367.74 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.43;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389484 GT:AD:DP:GQ:PL 1/1:0,11:11:30.10:401,30,0
2 141816621 rs1525579 A G 2863.08 PASS AC=2;AF=1.00;AN=2;DB;DP=88;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.74;MQ0=0;QD=32.53;SNPEFF_AMINO_ACID_CHANGE=V351;SNPEFF_CODON_CHANGE=gtT/gtC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_141816452_141816623;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP1B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000544579 GT:AD:DP:GQ:PL 1/1:0,88:88:99:2896,214,0
2 141816731 rs1525580 C T 149.11 PASS AB=0.63;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.23;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7338;MQ=59.14;MQ0=0;MQRankSum=1.08;QD=5.52;ReadPosRankSum=-0.025;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389484 GT:AD:DP:GQ:PL 0/1:17,10:27:99:179,0,629
2 141945949 rs1249434 C T 1498.81 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=39.44;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389484 GT:AD:DP:GQ:PL 1/1:0,38:38:99:1532,111,0
2 142012027 rs431809 G T 419.64 PASS AB=0.622;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.657;DB;DP=37;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=-0.783;QD=11.34;ReadPosRankSum=0.929;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389484 GT:AD:DP:GQ:PL 0/1:23,14:37:99:450,0,613
2 142012301 rs373757 T C 67.15 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=16.79;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389484 GT:AD:DP:GQ:PL 0/1:1,3:4:30.19:97,0,30
2 142237868 rs4264514 G A 102.44 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.866;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.036;QD=10.24;ReadPosRankSum=-0.365;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389484 GT:AD:DP:GQ:PL 0/1:6,4:10:99:132,0,222
2 142567737 rs4996425 G A 92.49 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=1.246;DB;DP=11;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=57.87;MQ0=0;MQRankSum=0.278;QD=8.41;ReadPosRankSum=0.896;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389484 GT:AD:DP:GQ:PL 0/1:7,4:11:99:122,0,211
2 142567738 rs28529494 G T 167.06 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.398;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.87;MQ0=0;MQRankSum=-1.034;QD=15.19;ReadPosRankSum=-1.034;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389484 GT:AD:DP:GQ:PL 0/1:4,7:11:99:197,0,127
2 143746494 rs10496935 C G 606.18 PASS AB=0.367;AC=1;AF=0.50;AN=2;BaseQRankSum=0.382;DB;DP=30;Dels=0.0;FS=1.9;HRun=0;HaplotypeScore=0.9983;MQ=60.0;MQ0=0;MQRankSum=-0.742;QD=20.21;ReadPosRankSum=1.416;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KYNU;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264170 GT:AD:DP:GQ:PL 0/1:11,19:30:99:636,0,372
2 143763491 rs694239 A G 1059.12 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KYNU;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264170 GT:AD:DP:GQ:PL 1/1:0,30:30:81.26:1092,81,0
2 143787161 rs6429999 C A 112.19 PASS AB=0.591;AC=1;AF=0.50;AN=2;BaseQRankSum=0.868;DB;DP=22;Dels=0.0;FS=0.0;HRun=7;HaplotypeScore=0.9332;MQ=60.0;MQ0=0;MQRankSum=1.202;QD=5.1;ReadPosRankSum=-1.269;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KYNU;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264170 GT:AD:DP:GQ:PL 0/1:13,9:22:99:142,0,472
2 143787274 rs6430000 C T 1481.43 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.92;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KYNU;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264170 GT:AD:DP:GQ:PL 1/1:0,45:45:99:1514,108,0
2 143791014 rs2304700 G T 129.19 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.416;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.412;QD=8.61;ReadPosRankSum=0.059;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KYNU;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264170 GT:AD:DP:GQ:PL 0/1:9,6:15:99:159,0,337
2 143798189 rs9013 A G 324.11 PASS AB=0.458;AC=1;AF=0.50;AN=2;BaseQRankSum=1.101;DB;DP=24;Dels=0.0;FS=1.81;HRun=0;HaplotypeScore=1.445;MQ=60.0;MQ0=0;MQRankSum=1.738;QD=13.5;ReadPosRankSum=-0.521;SNPEFF_AMINO_ACID_CHANGE=K412E;SNPEFF_CODON_CHANGE=Aaa/Gaa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_143797997_143798227;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KYNU;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000264170 GT:AD:DP:GQ:PL 0/1:11,13:24:99:354,0,391
2 143799907 rs3816193 G A 119.72 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.731;QD=23.94;ReadPosRankSum=0.731;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KYNU;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264170 GT:AD:DP:GQ:PL 0/1:1,4:5:26.18:150,0,26
2 143913004 rs2580857 T G 451.56 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.74;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGAP15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295095 GT:AD:DP:GQ:PL 1/1:0,13:13:36.12:485,36,0
2 143973860 rs1451805 G A 356.60 PASS AB=0.45;AC=1;AF=0.50;AN=2;BaseQRankSum=2.887;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.988;QD=17.83;ReadPosRankSum=0.532;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGAP15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295095 GT:AD:DP:GQ:PL 0/1:9,11:20:99:387,0,270
2 144193151 rs71885418 C CT 467.02 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.37;DB;DP=39;FS=2.716;HRun=14;HaplotypeScore=256.7627;IndelType=I;MQ=55.08;MQ0=0;MQRankSum=-0.835;QD=11.97;ReadPosRankSum=-0.969;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGAP15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295095 GT:AD:DP:GQ:PL 1/1:18,10:39:44.81:509,45,0
2 144194565 rs17230746 C T 446.58 PASS AB=0.548;AC=1;AF=0.50;AN=2;BaseQRankSum=1.29;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.655;QD=14.41;ReadPosRankSum=-0.655;SNPEFF_AMINO_ACID_CHANGE=Y219;SNPEFF_CODON_CHANGE=taC/taT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_144194482_144194611;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGAP15;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000295095 GT:AD:DP:GQ:PL 0/1:17,14:31:99:477,0,563
2 144314247 rs6734367 T G 180.02 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGAP15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295095 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:213,15,0
2 144899559 rs3731958 C A 1129.23 PASS AB=0.391;AC=1;AF=0.50;AN=2;BaseQRankSum=1.974;DB;DP=64;Dels=0.0;FS=5.368;HRun=1;HaplotypeScore=0.5784;MQ=59.64;MQ0=0;MQRankSum=0.899;QD=17.64;ReadPosRankSum=0.432;SNPEFF_AMINO_ACID_CHANGE=M137I;SNPEFF_CODON_CHANGE=atG/atT;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_144899449_144899622;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GTDC1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000241391 GT:AD:DP:GQ:PL 0/1:25,39:64:99:1159,0,695
2 145155731 rs10185359 T C 94.19 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.55;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZEB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392861 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:126,9,0
2 147596973 rs4411641 A G 347.78 PASS AB=0.294;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.791;DB;DP=17;Dels=0.0;FS=2.077;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.845;QD=20.46;ReadPosRankSum=-0.896;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AC103881.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000450667 GT:AD:DP:GQ:PL 0/1:5,12:17:99:378,0,165
2 148602544 rs111368945 C CT 351.73 PASS AC=2;AF=1.00;AN=2;DB;DP=16;FS=0.0;HRun=12;HaplotypeScore=68.3709;IndelType=I;MQ=45.26;MQ0=0;QD=21.98;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ACVR2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000404590 GT:AD:DP:GQ:PL 1/1:2,13:16:41.90:394,42,0
2 148657589 rs2288190 A G 329.52 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.61;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ACVR2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462659 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:363,27,0
2 148675779 rs4972315 G A 87.41 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ACVR2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000241416 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:119,9,0
2 148676144 . A C 130.72 PASS AB=0.357;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.085;DP=56;Dels=0.0;FS=43.012;HRun=2;HaplotypeScore=8.8949;MQ=51.61;MQ0=0;MQRankSum=-2.549;QD=2.33;ReadPosRankSum=2.575;SNPEFF_AMINO_ACID_CHANGE=K207N;SNPEFF_CODON_CHANGE=aaA/aaC;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_148676016_148676161;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ACVR2A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000535787 GT:AD:DP:GQ:PL 0/1:20,36:56:99:161,0,629
2 148680762 rs2303391 A G 236.60 PASS AB=0.222;AC=1;AF=0.50;AN=2;BaseQRankSum=1.666;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9933;MQ=60.0;MQ0=0;MQRankSum=-0.067;QD=26.29;ReadPosRankSum=0.762;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ACVR2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000241416 GT:AD:DP:GQ:PL 0/1:2,7:9:51.12:267,0,51
2 148683919 rs12620026 A T 81.64 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.21;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ACVR2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000241416 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:114,9,0
2 148731252 rs1378081 T C 41.87 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.93;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ORC4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264169 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:73,6,0
2 149240657 rs150706298 GT G 1403.15 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.808;DB;DP=87;FS=0.0;HRun=13;HaplotypeScore=297.0828;IndelType=D;MQ=60.22;MQ0=0;MQRankSum=0.393;QD=16.13;ReadPosRankSum=-0.393;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MBD5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000404807 GT:AD:DP:GQ:PL 1/1:12,68:87:99:1445,186,0
2 149243260 rs2121344 G A 290.28 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.11;MQ0=0;QD=29.03;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MBD5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000404807 GT:AD:DP:GQ:PL 1/1:0,10:10:24.08:323,24,0
2 149270710 rs16828708 A G 36.84 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9996;MQ=60.0;MQ0=0;MQRankSum=-1.231;QD=7.37;ReadPosRankSum=-1.231;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MBD5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000496893 GT:AD:DP:GQ:PL 0/1:3,2:5:66.83:67,0,109
2 149520186 rs12622667 T C 532.85 PASS AB=0.578;AC=1;AF=0.50;AN=2;BaseQRankSum=4.171;DB;DP=45;Dels=0.0;FS=3.002;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.172;QD=11.84;ReadPosRankSum=0.264;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397424 GT:AD:DP:GQ:PL 0/1:26,19:45:99:563,0,843
2 149520214 rs10193313 C A 800.12 PASS AB=0.534;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.648;DB;DP=58;Dels=0.0;FS=4.97;HRun=0;HaplotypeScore=0.9894;MQ=59.6;MQ0=0;MQRankSum=0.577;QD=13.8;ReadPosRankSum=-0.873;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397424 GT:AD:DP:GQ:PL 0/1:31,27:58:99:830,0,963
2 149522849 rs16829245 G T 33.99 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.38;QD=5.66;ReadPosRankSum=1.38;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397424 GT:AD:DP:GQ:PL 0/1:4,2:6:63.98:64,0,111
2 149529083 rs4972266 T C 784.02 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.33;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258484 GT:AD:DP:GQ:PL 1/1:0,21:21:63.18:817,63,0
2 149529095 rs13022974 A G 205.65 PASS AB=0.611;AC=1;AF=0.50;AN=2;BaseQRankSum=2.808;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.091;QD=11.42;ReadPosRankSum=0.996;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258484 GT:AD:DP:GQ:PL 0/1:11,7:18:99:236,0,376
2 149539054 rs2289995 G A 58.49 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.573;DB;DP=9;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.422;QD=6.5;ReadPosRankSum=0.248;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258484 GT:AD:DP:GQ:PL 0/1:6,3:9:88.49:88,0,198
2 149539060 rs2289996 T G 170.97 PASS AB=0.3;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.001;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.001;QD=17.1;ReadPosRankSum=0.248;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258484 GT:AD:DP:GQ:PL 0/1:3,7:10:98.14:201,0,98
2 149679958 rs4346318 A T 223.80 PASS AB=0.385;AC=1;AF=0.50;AN=2;BaseQRankSum=0.212;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.67;QD=17.22;ReadPosRankSum=-0.817;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF5C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000451033 GT:AD:DP:GQ:PL 0/1:5,8:13:99:254,0,167
2 149793551 rs73966655 A C 51.64 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.82;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF5C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000414838 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:83,6,0
2 149793612 rs73966656 A T 242.42 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=0.34;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.75;MQ0=0;MQRankSum=-1.22;QD=16.16;ReadPosRankSum=1.555;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF5C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000414838 GT:AD:DP:GQ:PL 0/1:7,8:15:99:272,0,243
2 149798213 rs73970609 G A 280.44 PASS AB=0.45;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.355;DB;DP=20;Dels=0.0;FS=6.607;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.836;QD=14.02;ReadPosRankSum=0.228;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF5C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334436 GT:AD:DP:GQ:PL 0/1:9,11:20:99:310,0,326
2 149799216 rs61734995 T C 677.04 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.775;DB;DP=43;Dels=0.0;FS=7.61;HRun=3;HaplotypeScore=1.7621;MQ=59.03;MQ0=0;MQRankSum=0.644;QD=15.75;ReadPosRankSum=0.381;SNPEFF_AMINO_ACID_CHANGE=P177;SNPEFF_CODON_CHANGE=ccT/ccC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_149799187_149799274;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF5C;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000435030 GT:AD:DP:GQ:PL 0/1:18,24:43:99:707,0,551
2 149803357 rs73962006 A T 922.33 PASS AB=0.485;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.776;DB;DP=68;Dels=0.0;FS=3.184;HRun=2;HaplotypeScore=1.8938;MQ=60.0;MQ0=0;MQRankSum=-0.571;QD=13.56;ReadPosRankSum=-1.789;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF5C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334436 GT:AD:DP:GQ:PL 0/1:33,35:68:99:952,0,1090
2 149806388 rs60169973 C T 1335.45 PASS AB=0.47;AC=1;AF=0.50;AN=2;BaseQRankSum=3.864;DB;DP=83;Dels=0.0;FS=0.839;HRun=0;HaplotypeScore=0.0;MQ=59.5;MQ0=0;MQRankSum=1.229;QD=16.09;ReadPosRankSum=-0.222;SNPEFF_AMINO_ACID_CHANGE=D153;SNPEFF_CODON_CHANGE=gaC/gaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_149806353_149806457;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF5C;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000334436 GT:AD:DP:GQ:PL 0/1:39,44:83:99:1365,0,983
2 149838132 rs11901442 T G 81.84 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=16.37;ReadPosRankSum=0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF5C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334436 GT:AD:DP:GQ:PL 0/1:2,3:5:59.03:112,0,59
2 149853960 rs6738277 A G 554.48 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.66;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF5C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334436 GT:AD:DP:GQ:PL 1/1:0,16:16:48.15:587,48,0
2 150016809 rs16826652 T C 657.86 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.96;MQ0=0;QD=36.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=LYPD6B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409029 GT:AD:DP:GQ:PL 1/1:0,18:18:51.17:691,51,0
2 150325416 rs1196660 A G 199.30 PASS AB=0.652;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.452;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.19;MQ0=0;MQRankSum=-1.13;QD=8.67;ReadPosRankSum=-1.517;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LYPD6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334166 GT:AD:DP:GQ:PL 0/1:15,8:23:99:229,0,545
2 150426399 rs6742604 A G 453.98 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.27;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MMADHC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303319 GT:AD:DP:GQ:PL 1/1:0,15:15:39.10:487,39,0
2 150427516 rs4500908 C T 415.77 PASS AB=0.517;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.382;DB;DP=29;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.153;QD=14.34;ReadPosRankSum=-0.589;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MMADHC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303319 GT:AD:DP:GQ:PL 0/1:15,14:29:99:446,0,553
2 150432377 rs12232959 C G 430.22 PASS AB=0.36;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.537;QD=17.21;ReadPosRankSum=0.656;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MMADHC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303319 GT:AD:DP:GQ:PL 0/1:9,16:25:99:460,0,310
2 150432469 rs10932467 G T 35.61 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.358;QD=7.12;ReadPosRankSum=0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MMADHC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303319 GT:AD:DP:GQ:PL 0/1:3,2:5:65.60:66,0,109
2 150432976 rs11545261 C T 2484 PASS AC=2;AF=1.00;AN=2;DB;DP=77;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.26;SNPEFF_AMINO_ACID_CHANGE=Q151;SNPEFF_CODON_CHANGE=caG/caA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_150432951_150433056;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MMADHC;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000303319 GT:AD:DP:GQ:PL 1/1:0,77:77:99:2517,187,0
2 150433128 rs11680630 C G 143.17 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.702;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.96;MQ0=0;MQRankSum=1.639;QD=7.95;ReadPosRankSum=-0.328;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MMADHC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303319 GT:AD:DP:GQ:PL 0/1:12,6:18:99:173,0,424
2 150435889 rs36108609 C CAA 560.60 PASS AB=0.676;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.563;DB;DP=25;FS=0.0;HRun=2;HaplotypeScore=63.2376;IndelType=I;MQ=59.07;MQ0=0;MQRankSum=-0.462;QD=22.42;ReadPosRankSum=1.006;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MMADHC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303319 GT:AD:DP:GQ:PL 0/1:13,12:25:99:600,0,499
2 150443689 rs4667420 C G 830.74 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.61;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MMADHC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303319 GT:AD:DP:GQ:PL 1/1:1,22:24:63.21:864,63,0
2 150443813 rs4667419 C T 48.08 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.04;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MMADHC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303319 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
2 150714893 rs1561312 A G 3782.53 PASS AC=2;AF=1.00;AN=2;DB;DP=109;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=58.76;MQ0=0;QD=34.7;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AC007364.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295052 GT:AD:DP:GQ:PL 1/1:0,109:109:99:3783,280,0
2 150715515 rs6437112 C T 2713.87 PASS AC=2;AF=1.00;AN=2;DB;DP=71;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;QD=38.22;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AC007364.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295052 GT:AD:DP:GQ:PL 1/1:0,71:71:99:2747,202,0
2 151326862 rs13000209 T C 159.46 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.246;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.246;QD=14.5;ReadPosRankSum=0.597;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RND3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000439275 GT:AD:DP:GQ:PL 0/1:4,7:11:99:189,0,131
2 151326953 rs12692713 C A 48.77 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.38;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RND3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000439275 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:80,6,0
2 151328284 rs35755012 GA G 426.88 PASS AC=2;AF=1.00;AN=2;DB;DP=24;FS=0.0;HRun=12;HaplotypeScore=95.5403;IndelType=D;MQ=59.73;MQ0=0;QD=17.79;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RND3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000439275 GT:AD:DP:GQ:PL 1/1:2,21:24:61.78:469,62,0
2 151900223 rs7589036 T C 4078.67 PASS AC=2;AF=1.00;AN=2;DB;DP=127;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9966;MQ=55.68;MQ0=0;QD=32.12;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC023469.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409243 GT:AD:DP:GQ:PL 1/1:0,127:127:99:4079,322,0
2 151900390 rs67803515 TAAAAACAAAAAC T 2861.17 PASS AC=2;AF=1.00;AN=2;DB;DP=54;FS=0.0;HRun=0;HaplotypeScore=583.6127;IndelType=D;MQ=44.26;MQ0=0;QD=52.98;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC023469.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409243 GT:AD:DP:GQ:PL 1/1:26,28:54:87.29:2903,87,0
2 152107214 rs289884 T C 78.84 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.28;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RBM43;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331426 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:111,9,0
2 152108261 rs4665119 T G 590.13 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.71;MQ0=0;QD=32.78;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RBM43;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331426 GT:AD:DP:GQ:PL 1/1:0,18:18:48.15:623,48,0
2 152109159 rs289885 C T 575.94 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RBM43;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331426 GT:AD:DP:GQ:PL 1/1:0,17:18:48.15:609,48,0
2 152111931 rs35043333 C CA 244.94 PASS AC=2;AF=1.00;AN=2;DB;DP=10;FS=0.0;HRun=10;HaplotypeScore=24.3378;IndelType=I;MQ=57.66;MQ0=0;QD=24.49;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RBM43;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331426 GT:AD:DP:GQ:PL 1/1:1,8:10:27.07:287,27,0
2 152117780 rs2271811 T C 230.66 PASS AB=0.55;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.286;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.122;QD=11.53;ReadPosRankSum=-0.776;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RBM43;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331426 GT:AD:DP:GQ:PL 0/1:11,9:20:99:261,0,339
2 152118271 rs55775354 G A 182.68 PASS AB=0.143;AC=1;AF=0.50;AN=2;BaseQRankSum=0.742;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.742;QD=26.1;ReadPosRankSum=-0.742;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_2_152118239_152118393;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RBM43;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331426 GT:AD:DP:GQ:PL 0/1:1,6:7:15.06:213,0,15
2 152118275 rs56376752 A G 185.55 PASS AB=0.125;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.747;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.747;QD=23.19;ReadPosRankSum=-0.747;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_2_152118239_152118393;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RBM43;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000331426 GT:AD:DP:GQ:PL 0/1:1,7:8:21.16:216,0,21
2 152138522 rs3771886 T C 917.08 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.568;DB;DP=74;Dels=0.0;FS=0.911;HRun=0;HaplotypeScore=2.2633;MQ=60.0;MQ0=0;MQRankSum=0.634;QD=12.39;ReadPosRankSum=0.403;SNPEFF_AMINO_ACID_CHANGE=Q39;SNPEFF_CODON_CHANGE=caA/caG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_152138462_152138557;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NMI;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000243346 GT:AD:DP:GQ:PL 0/1:37,37:74:99:947,0,1005
2 152139271 rs10169816 C T 76.06 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.406;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9734;MQ=60.0;MQ0=0;MQRankSum=-0.988;QD=12.68;ReadPosRankSum=0.406;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NMI;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477072 GT:AD:DP:GQ:PL 0/1:3,3:6:99:106,0,107
2 152139416 rs1048135 G A 1001.78 PASS AB=0.479;AC=1;AF=0.50;AN=2;BaseQRankSum=2.653;DB;DP=71;Dels=0.0;FS=0.912;HRun=2;HaplotypeScore=2.3656;MQ=59.41;MQ0=0;MQRankSum=0.178;QD=14.11;ReadPosRankSum=0.927;SNPEFF_AMINO_ACID_CHANGE=S16L;SNPEFF_CODON_CHANGE=tCg/tTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_152139382_152139468;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NMI;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000243346 GT:AD:DP:GQ:PL 0/1:34,37:71:99:1032,0,957
2 152139493 rs10182245 A G 905.03 PASS AB=0.412;AC=1;AF=0.50;AN=2;BaseQRankSum=0.373;DB;DP=51;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.718;QD=17.75;ReadPosRankSum=1.024;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NMI;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000243346 GT:AD:DP:GQ:PL 0/1:21,30:51:99:935,0,649
2 152236045 rs71403164 TA T 313.99 PASS AB=0.694;AC=1;AF=0.50;AN=2;BaseQRankSum=1.402;DB;DP=68;FS=9.304;HRun=14;HaplotypeScore=306.4154;IndelType=D;MQ=57.32;MQ0=0;MQRankSum=0.31;QD=4.62;ReadPosRankSum=0.546;SNPEFF_EFFECT=FRAME_SHIFT;SNPEFF_EXON_ID=exon_2_152235878_152236560;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNFAIP6;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000243347 GT:AD:DP:GQ:PL 0/1:37,26:68:99:353,0,400
2 152267072 rs4664045 T G 71.50 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=1.422;DB;DP=10;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=0.248;QD=7.15;ReadPosRankSum=-1.001;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RIF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000243326 GT:AD:DP:GQ:PL 0/1:3,6:10:81:101,0,81
2 152267672 rs7585604 G A 583.03 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.55;MQ0=0;QD=36.44;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RIF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000243326 GT:AD:DP:GQ:PL 1/1:0,16:16:48.15:616,48,0
2 152267721 rs142753017 AT A 373.94 PASS AB=0.662;AC=1;AF=0.50;AN=2;BaseQRankSum=0.887;DB;DP=43;FS=0.0;HRun=11;HaplotypeScore=158.9041;IndelType=D;MQ=59.18;MQ0=0;MQRankSum=1.883;QD=8.7;ReadPosRankSum=0.134;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RIF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000243326 GT:AD:DP:GQ:PL 0/1:20,22:43:99:413,0,525
2 152267897 rs147345000 G GT 430.80 PASS AB=0.683;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.422;DB;DP=43;FS=0.0;HRun=11;HaplotypeScore=151.5825;IndelType=I;MQ=58.05;MQ0=0;MQRankSum=1.268;QD=10.02;ReadPosRankSum=1.363;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RIF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000243326 GT:AD:DP:GQ:PL 0/1:23,20:43:99:470,0,269
2 152273503 rs6735771 G A 105.45 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.45;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.66;MQ0=0;MQRankSum=-0.47;QD=10.54;ReadPosRankSum=-0.676;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RIF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420714 GT:AD:DP:GQ:PL 0/1:5,5:10:99:135,0,186
2 152289767 rs72860233 G A 497.69 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.021;DB;DP=30;Dels=0.0;FS=3.776;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.164;QD=16.59;ReadPosRankSum=-0.402;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RIF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000243326 GT:AD:DP:GQ:PL 0/1:12,18:30:99:528,0,400
2 152292169 rs113447149 GA G 375.02 PASS AB=0.718;AC=1;AF=0.50;AN=2;BaseQRankSum=4.397;DB;DP=51;FS=2.387;HRun=9;HaplotypeScore=126.917;IndelType=D;MQ=60.21;MQ0=0;MQRankSum=-1.131;QD=7.35;ReadPosRankSum=-0.628;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RIF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000243326 GT:AD:DP:GQ:PL 0/1:31,20:51:99:414,0,731
2 152293620 rs2444272 C T 315.04 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.9;MQ0=0;QD=35.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RIF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000243326 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:348,27,0
2 152295141 rs16830036 A G 219.19 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.826;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.265;QD=12.18;ReadPosRankSum=-0.971;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RIF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000243326 GT:AD:DP:GQ:PL 0/1:9,9:18:99:249,0,288
2 152303171 rs2432941 G A 1089.61 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.57;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RIF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000433166 GT:AD:DP:GQ:PL 1/1:0,29:29:84.25:1123,84,0
2 152311570 rs2444263 G A 2922.10 PASS AC=2;AF=1.00;AN=2;DB;DP=78;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;QD=37.46;SNPEFF_AMINO_ACID_CHANGE=G836S;SNPEFF_CODON_CHANGE=Ggc/Agc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_152311409_152311673;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RIF1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000243326 GT:AD:DP:GQ:PL 1/1:0,78:78:99:2955,217,0
2 152314385 rs16830047 G A 856.98 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.373;DB;DP=50;Dels=0.0;FS=1.198;HRun=0;HaplotypeScore=0.0;MQ=59.54;MQ0=0;MQRankSum=0.0;QD=17.14;ReadPosRankSum=-1.033;SNPEFF_AMINO_ACID_CHANGE=L921;SNPEFF_CODON_CHANGE=ctG/ctA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_152314275_152314477;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RIF1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000243326 GT:AD:DP:GQ:PL 0/1:20,30:50:99:887,0,546
2 152314547 rs76540687 C CA 459.84 PASS AC=2;AF=1.00;AN=2;DB;DP=12;FS=0.0;HRun=3;HaplotypeScore=22.0696;IndelType=I;MQ=60.9;MQ0=0;QD=38.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RIF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000243326 GT:AD:DP:GQ:PL 1/1:0,12:12:36.12:502,36,0
2 152315549 rs2444260 G T 205.54 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RIF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000243326 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:238,18,0
2 152317531 rs2045025 T C 78.06 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.537;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=13.01;ReadPosRankSum=-1.537;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RIF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000243326 GT:AD:DP:GQ:PL 0/1:3,3:6:99:108,0,100
2 152318031 rs4664438 G A 61.14 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=49.96;MQ0=0;MQRankSum=-0.358;QD=12.23;ReadPosRankSum=-0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RIF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000243326 GT:AD:DP:GQ:PL 0/1:2,3:5:68.95:91,0,69
2 152318713 rs147746961 TATC T 217.86 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=2.637;DB;DP=12;FS=0.0;HRun=0;HaplotypeScore=47.1174;IndelType=D;MQ=57.0;MQ0=0;MQRankSum=-0.143;QD=18.16;ReadPosRankSum=0.717;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RIF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000243326 GT:AD:DP:GQ:PL 0/1:6,6:12:99:257,0,306
2 152320118 rs2123465 G A 2213.45 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.462;DB;DP=64;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9997;MQ=60.0;MQ0=0;MQRankSum=-1.083;QD=34.59;ReadPosRankSum=0.0;SNPEFF_AMINO_ACID_CHANGE=V1362M;SNPEFF_CODON_CHANGE=Gtg/Atg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_152319398_152322634;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RIF1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000243326 GT:AD:DP:GQ:PL 1/1:1,63:64:99:2246,132,0
2 152322095 rs2444257 A T 962.23 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.31;MQ0=0;QD=35.64;SNPEFF_AMINO_ACID_CHANGE=N2021Y;SNPEFF_CODON_CHANGE=Aat/Tat;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_152319398_152322634;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RIF1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000243326 GT:AD:DP:GQ:PL 1/1:0,27:27:75.23:995,75,0
2 152324789 rs2444274 G C 577.91 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.12;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RIF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000243326 GT:AD:DP:GQ:PL 1/1:0,16:16:45.15:611,45,0
2 152331418 rs1065177 C G 1190.38 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.3;MQ0=0;QD=36.07;SNPEFF_AMINO_ACID_CHANGE=L2392V;SNPEFF_CODON_CHANGE=Ctg/Gtg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_152331371_152331902;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RIF1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000428287 GT:AD:DP:GQ:PL 1/1:0,33:33:90.27:1223,90,0
2 152342481 rs16830090 A G 899.53 PASS AB=0.548;AC=1;AF=0.50;AN=2;BaseQRankSum=1.291;DB;DP=73;Dels=0.0;FS=2.563;HRun=0;HaplotypeScore=0.0;MQ=59.74;MQ0=0;MQRankSum=-0.427;QD=12.32;ReadPosRankSum=0.05;SNPEFF_EFFECT=INTRAGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RIF1;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 0/1:40,33:73:99:930,0,1358
2 152346979 rs1061305 T C 414.78 PASS AB=0.514;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.435;DB;DP=35;Dels=0.0;FS=1.4;HRun=0;HaplotypeScore=0.0;MQ=59.34;MQ0=0;MQRankSum=-0.378;QD=11.85;ReadPosRankSum=0.038;SNPEFF_AMINO_ACID_CHANGE=I2502V;SNPEFF_CODON_CHANGE=Atc/Gtc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_152346886_152347032;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000397342 GT:AD:DP:GQ:PL 0/1:18,17:35:99:445,0,564
2 152348842 rs2288193 T A 1157.34 PASS AB=0.568;AC=1;AF=0.50;AN=2;BaseQRankSum=2.115;DB;DP=95;Dels=0.0;FS=1.812;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.018;QD=12.18;ReadPosRankSum=0.642;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000424585 GT:AD:DP:GQ:PL 0/1:54,41:95:99:1187,0,1804
2 152349026 rs2288195 G A 3445.82 PASS AC=2;AF=1.00;AN=2;DB;DP=92;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=59.55;MQ0=0;QD=37.45;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000424585 GT:AD:DP:GQ:PL 1/1:1,91:92:99:3446,253,0
2 152350462 rs4664455 T C 575.17 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.45;MQ0=0;QD=38.34;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000424585 GT:AD:DP:GQ:PL 1/1:0,15:15:45.15:608,45,0
2 152352843 rs7575451 C G 3322.42 PASS AC=2;AF=1.00;AN=2;DB;DP=91;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.7172;MQ=59.79;MQ0=0;QD=36.51;SNPEFF_AMINO_ACID_CHANGE=A120P;SNPEFF_CODON_CHANGE=Gct/Cct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_152352790_152352882;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000397336 GT:AD:DP:GQ:PL 1/1:0,91:91:99:3322,244,0
2 152353395 rs10497081 T G 583.14 PASS AB=0.564;AC=1;AF=0.50;AN=2;BaseQRankSum=1.366;DB;DP=55;Dels=0.0;FS=3.602;HRun=0;HaplotypeScore=0.9998;MQ=58.81;MQ0=0;MQRankSum=0.195;QD=10.6;ReadPosRankSum=1.01;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000172853 GT:AD:DP:GQ:PL 0/1:31,24:55:99:613,0,1062
2 152369117 rs13023600 T C 1402.76 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.97;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000483418 GT:AD:DP:GQ:PL 1/1:0,36:36:99:1436,105,0
2 152374800 rs16830136 G A 5385.60 PASS AC=2;AF=1.00;AN=2;DB;DP=151;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.4679;MQ=59.57;MQ0=0;QD=35.67;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000172853 GT:AD:DP:GQ:PL 1/1:0,151:151:99:5386,397,0
2 152375935 rs13391309 C T 51.64 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.82;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000172853 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:83,6,0
2 152381622 rs187522643 T G 1268.33 PASS AB=0.546;AC=1;AF=0.50;AN=2;BaseQRankSum=0.423;DB;DP=97;Dels=0.0;FS=1.02;HRun=0;HaplotypeScore=1.4725;MQ=59.28;MQ0=0;MQRankSum=-0.415;QD=13.08;ReadPosRankSum=0.842;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000172853 GT:AD:DP:GQ:PL 0/1:53,44:97:99:1298,0,1762
2 152381895 rs2288196 G A 1871.52 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.62;MQ0=0;QD=38.19;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000172853 GT:AD:DP:GQ:PL 1/1:0,49:49:99:1905,141,0
2 152382199 rs7585717 A G 78.88 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.29;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000480784 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:111,9,0
2 152382329 rs7597735 G A 1212.42 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.64;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000480784 GT:AD:DP:GQ:PL 1/1:0,35:35:99:1245,99,0
2 152382454 rs6721666 C G 4369.23 PASS AC=2;AF=1.00;AN=2;DB;DP=139;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=2.7337;MQ=60.0;MQ0=0;QD=31.43;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000480784 GT:AD:DP:GQ:PL 1/1:0,138:139:99:4369,361,0
2 152383913 rs2288198 T C 1132.76 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.54;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420924 GT:AD:DP:GQ:PL 1/1:0,31:31:87.26:1166,87,0
2 152384377 rs10930688 T C 49.30 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.65;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420924 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
2 152387553 rs4664475 T C 3460.81 PASS AC=2;AF=1.00;AN=2;DB;DP=112;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.4679;MQ=59.21;MQ0=0;QD=30.9;SNPEFF_AMINO_ACID_CHANGE=T1543;SNPEFF_CODON_CHANGE=acA/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_152387508_152387615;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000397342 GT:AD:DP:GQ:PL 1/1:0,112:112:99:3461,277,0
2 152387762 rs6433481 T C 241.91 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.933;MQ=51.13;MQ0=0;QD=17.28;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420924 GT:AD:DP:GQ:PL 1/1:0,14:14:21.07:275,21,0
2 152388228 rs60806638 G C 708.77 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.42;MQ0=0;QD=35.44;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420924 GT:AD:DP:GQ:PL 1/1:0,20:20:54.18:742,54,0
2 152388415 rs112094961 AT A 3298.65 PASS AC=2;AF=1.00;AN=2;DB;DP=86;FS=0.0;HRun=2;HaplotypeScore=247.2593;IndelType=D;MQ=59.97;MQ0=0;QD=38.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000172853 GT:AD:DP:GQ:PL 1/1:1,85:86:99:3299,256,0
2 152394106 rs13425109 G C 52.75 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000172853 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
2 152394534 rs3732310 T G 2780.96 PASS AC=2;AF=1.00;AN=2;DB;DP=84;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.23;MQ0=0;QD=33.11;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000172853 GT:AD:DP:GQ:PL 1/1:0,84:84:99:2814,214,0
2 152396726 rs76710630 T TA 353.07 PASS AC=2;AF=1.00;AN=2;DB;DP=11;FS=0.0;HRun=7;HaplotypeScore=28.8229;IndelType=I;MQ=58.88;MQ0=0;QD=32.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000172853 GT:AD:DP:GQ:PL 1/1:0,11:11:33.10:395,33,0
2 152402515 rs72523010 T TA 571.40 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.295;DB;DP=66;FS=4.325;HRun=17;HaplotypeScore=582.8278;IndelType=I;MQ=54.83;MQ0=0;MQRankSum=-0.676;QD=8.66;ReadPosRankSum=-1.265;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000172853 GT:AD:DP:GQ:PL 1/1:30,25:66:38.91:613,39,0
2 152402711 rs3213818 A G 518.68 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.45;MQ0=0;QD=34.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000172853 GT:AD:DP:GQ:PL 1/1:0,15:15:45.14:552,45,0
2 152403014 rs4664486 C T 1285.07 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.94;MQ0=0;QD=31.34;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000172853 GT:AD:DP:GQ:PL 1/1:0,36:41:99:1318,99,0
2 152404294 rs2288201 C T 1710.24 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.3123;MQ=59.59;MQ0=0;QD=37.18;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000172853 GT:AD:DP:GQ:PL 1/1:0,46:46:99:1743,132,0
2 152409416 rs2288203 C T 768.05 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.4;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000172853 GT:AD:DP:GQ:PL 1/1:0,20:20:60.18:801,60,0
2 152409809 rs4575719 C A 510.47 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000172853 GT:AD:DP:GQ:PL 1/1:0,19:19:45.14:543,45,0
2 152410732 rs6731486 A G 51 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.5;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000172853 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
2 152417064 rs2288206 G A 105.99 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.72;QD=17.67;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000172853 GT:AD:DP:GQ:PL 0/1:2,4:6:57.53:136,0,58
2 152417311 rs3214502 T TC 372.26 PASS AB=0.645;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.367;DB;DP=20;FS=0.0;HRun=3;HaplotypeScore=42.4191;IndelType=I;MQ=60.54;MQ0=0;MQRankSum=1.357;QD=18.61;ReadPosRankSum=0.653;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000172853 GT:AD:DP:GQ:PL 0/1:9,11:20:99:411,0,165
2 152417999 rs7424331 C T 205.42 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=15.8;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000172853 GT:AD:DP:GQ:PL 1/1:0,13:13:18.06:238,18,0
2 152418022 rs7419413 T C 214.28 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.79;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000172853 GT:AD:DP:GQ:PL 1/1:0,8:8:21.06:247,21,0
2 152421357 rs6433504 G A 168.17 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.02;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000172853 GT:AD:DP:GQ:PL 1/1:0,7:7:15.05:201,15,0
2 152421937 rs7602715 A G 865.06 PASS AB=0.473;AC=1;AF=0.50;AN=2;BaseQRankSum=1.037;DB;DP=55;Dels=0.0;FS=7.158;HRun=0;HaplotypeScore=0.0;MQ=59.58;MQ0=0;MQRankSum=-0.211;QD=15.73;ReadPosRankSum=-0.615;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000172853 GT:AD:DP:GQ:PL 0/1:26,29:55:99:895,0,787
2 152422076 rs2288210 C G 4923.96 PASS AC=2;AF=1.00;AN=2;DB;DP=135;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=59.31;MQ0=0;QD=36.47;SNPEFF_AMINO_ACID_CHANGE=R4401T;SNPEFF_CODON_CHANGE=aGa/aCa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_152422015_152422119;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000172853 GT:AD:DP:GQ:PL 1/1:0,135:135:99:4924,361,0
2 152422087 rs2288211 A G 1655.07 PASS AB=0.547;AC=1;AF=0.50;AN=2;BaseQRankSum=1.157;DB;DP=139;Dels=0.0;FS=0.64;HRun=2;HaplotypeScore=0.734;MQ=59.5;MQ0=0;MQRankSum=0.501;QD=11.91;ReadPosRankSum=-1.293;SNPEFF_AMINO_ACID_CHANGE=Y4397;SNPEFF_CODON_CHANGE=taT/taC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_152422015_152422119;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000172853 GT:AD:DP:GQ:PL 0/1:76,63:139:99:1685,0,2456
2 152423459 rs7557092 T A 30.88 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=7;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=10.29;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000172853 GT:AD:DP:GQ:PL 1/1:1,2:3:6.01:62,6,0
2 152424933 rs71929825 T TA 1381.12 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.828;DB;DP=96;FS=0.0;HRun=13;HaplotypeScore=409.6336;IndelType=I;MQ=58.0;MQ0=0;MQRankSum=0.542;QD=14.39;ReadPosRankSum=1.589;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000172853 GT:AD:DP:GQ:PL 1/1:33,61:96:36.80:1423,37,0
2 152425692 rs3732312 T C 910.99 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=1.647;DB;DP=72;Dels=0.0;FS=1.653;HRun=0;HaplotypeScore=0.9832;MQ=60.0;MQ0=0;MQRankSum=0.456;QD=12.65;ReadPosRankSum=0.653;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000172853 GT:AD:DP:GQ:PL 0/1:40,32:72:99:941,0,1255
2 152427249 rs7568873 A G 583.36 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.89;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000172853 GT:AD:DP:GQ:PL 1/1:0,15:15:45.15:616,45,0
2 152432481 rs3771901 G A 320.45 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.741;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.023;QD=11.44;ReadPosRankSum=-0.534;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000172853 GT:AD:DP:GQ:PL 0/1:16,12:28:99:350,0,581
2 152432886 rs61254943 G A 1433.92 PASS AB=0.447;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.095;DB;DP=95;Dels=0.0;FS=1.251;HRun=1;HaplotypeScore=1.9994;MQ=60.0;MQ0=0;MQRankSum=-0.384;QD=15.09;ReadPosRankSum=1.517;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000172853 GT:AD:DP:GQ:PL 0/1:42,52:95:99:1464,0,1323
2 152447845 . G GC 498.38 PASS AB=0.837;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.015;DP=105;FS=4.132;HRun=0;HaplotypeScore=260.9691;IndelType=I;MQ=23.37;MQ0=5;MQRankSum=-0.013;QD=4.22;ReadPosRankSum=1.815;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000172853 GT:AD:DP:GQ:PL 0/1:95,23:105:99:537,0,3154
2 152466728 rs58909595 T C 219.30 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=0.921;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.945;QD=9.97;ReadPosRankSum=-0.034;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000172853 GT:AD:DP:GQ:PL 0/1:14,8:22:99:249,0,503
2 152472417 rs62174707 C T 511.48 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=0.395;DB;DP=30;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.145;QD=17.05;ReadPosRankSum=1.018;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000172853 GT:AD:DP:GQ:PL 0/1:14,16:30:99:541,0,433
2 152474001 rs4303716 A G 226.61 PASS AB=0.479;AC=1;AF=0.50;AN=2;BaseQRankSum=0.913;DB;DP=48;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=5.9592;MQ=53.9;MQ0=0;MQRankSum=2.496;QD=4.72;ReadPosRankSum=0.864;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000172853 GT:AD:DP:GQ:PL 0/1:23,25:48:99:257,0,330
2 152475938 rs10186656 T G 874.02 PASS AB=0.524;AC=1;AF=0.50;AN=2;BaseQRankSum=0.888;DB;DP=63;Dels=0.0;FS=1.151;HRun=1;HaplotypeScore=0.5784;MQ=59.34;MQ0=0;MQRankSum=1.741;QD=13.87;ReadPosRankSum=-0.007;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000172853 GT:AD:DP:GQ:PL 0/1:33,30:63:99:904,0,1036
2 152476028 rs10172023 C G 2102.55 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.214;DB;DP=138;Dels=0.0;FS=5.319;HRun=0;HaplotypeScore=4.3881;MQ=60.0;MQ0=0;MQRankSum=0.21;QD=15.24;ReadPosRankSum=-0.21;SNPEFF_AMINO_ACID_CHANGE=W3360C;SNPEFF_CODON_CHANGE=tgG/tgC;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_152475965_152476276;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000172853 GT:AD:DP:GQ:PL 0/1:64,73:138:99:2133,0,1851
2 152481846 rs4599105 G A 208.84 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.83;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000172853 GT:AD:DP:GQ:PL 1/1:0,7:7:18.06:242,18,0
2 152481977 rs10186482 A G 1692.81 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.11;MQ0=0;QD=32.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000172853 GT:AD:DP:GQ:PL 1/1:0,52:52:99:1726,144,0
2 152487574 rs4233653 T C 2027.47 PASS AB=0.522;AC=1;AF=0.50;AN=2;BaseQRankSum=2.056;DB;DP=134;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.9089;MQ=59.66;MQ0=0;MQRankSum=0.857;QD=15.13;ReadPosRankSum=0.506;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000172853 GT:AD:DP:GQ:PL 0/1:70,64:134:99:2057,0,2323
2 152490219 rs6709886 A G 5279.31 PASS AC=2;AF=1.00;AN=2;DB;DP=175;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.74;MQ0=0;QD=30.17;SNPEFF_AMINO_ACID_CHANGE=P3121;SNPEFF_CODON_CHANGE=ccT/ccC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_152490168_152490479;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000397345 GT:AD:DP:GQ:PL 1/1:0,174:175:99:5279,430,0
2 152490458 rs6710212 A G 5456.95 PASS AC=2;AF=1.00;AN=2;DB;DP=154;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.7675;MQ=60.0;MQ0=0;QD=35.43;SNPEFF_AMINO_ACID_CHANGE=C3042R;SNPEFF_CODON_CHANGE=Tgc/Cgc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_152490168_152490479;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000397345 GT:AD:DP:GQ:PL 1/1:0,154:154:99:5457,409,0
2 152500449 rs13013209 C G 8661.77 PASS AC=2;AF=1.00;AN=2;DB;DP=250;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.7;MQ0=0;QD=34.65;SNPEFF_AMINO_ACID_CHANGE=K2613N;SNPEFF_CODON_CHANGE=aaG/aaC;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_152500332_152500643;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000172853 GT:AD:DP:GQ:PL 1/1:0,248:250:99:8662,644,0
2 152500957 rs78226234 A G 1900.45 PASS AB=0.478;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.066;DB;DP=115;Dels=0.0;FS=3.795;HRun=0;HaplotypeScore=2.3565;MQ=59.31;MQ0=0;MQRankSum=1.078;QD=16.53;ReadPosRankSum=1.124;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000172853 GT:AD:DP:GQ:PL 0/1:55,60:115:99:1930,0,1661
2 152512761 . T C 3436.27 PASS AB=0.478;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.153;DP=207;DS;Dels=0.0;FS=2.648;HRun=0;HaplotypeScore=1.7287;MQ=59.78;MQ0=0;MQRankSum=-0.738;QD=16.6;ReadPosRankSum=0.552;SNPEFF_AMINO_ACID_CHANGE=N2134S;SNPEFF_CODON_CHANGE=aAc/aGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_152512667_152512978;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000172853 GT:AD:DP:GQ:PL 0/1:99,108:207:99:3436,0,3092
2 152520535 rs67814419 AT A 80.93 PASS AC=2;AF=1.00;AN=2;DB;DP=5;FS=0.0;HRun=11;HaplotypeScore=16.3686;IndelType=D;MQ=64.19;MQ0=0;QD=16.19;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484968 GT:AD:DP:GQ:PL 1/1:0,5:5:14.98:123,15,0
2 152527572 rs7426114 C T 4619.66 PASS AC=2;AF=1.00;AN=2;DB;DP=138;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.67;MQ0=0;QD=33.48;SNPEFF_AMINO_ACID_CHANGE=V1491M;SNPEFF_CODON_CHANGE=Gtg/Atg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_152527537_152527743;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000172853 GT:AD:DP:GQ:PL 1/1:0,138:138:99:4620,337,0
2 152531077 rs6711382 A G 3294.92 PASS AC=2;AF=1.00;AN=2;DB;DP=89;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.49;MQ0=0;QD=36.61;SNPEFF_AMINO_ACID_CHANGE=Y1301H;SNPEFF_CODON_CHANGE=Tat/Cat;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_152530991_152531098;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000172853 GT:AD:DP:GQ:PL 1/1:0,89:89:99:3295,238,0
2 152536498 rs6735208 T A 2575.84 PASS AC=2;AF=1.00;AN=2;DB;DP=82;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9332;MQ=59.15;MQ0=0;QD=31.41;SNPEFF_AMINO_ACID_CHANGE=K1027N;SNPEFF_CODON_CHANGE=aaA/aaT;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_152536432_152536536;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000172853 GT:AD:DP:GQ:PL 1/1:0,82:82:99:2609,202,0
2 152539550 rs4453694 T C 81.12 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.44;MQ0=0;QD=27.04;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000172853 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:113,9,0
2 152541134 rs7564674 T C 159.81 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.96;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000489048 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:193,15,0
2 152552062 rs6433569 A C 3788.64 PASS AC=2;AF=1.00;AN=2;DB;DP=115;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.8;MQ0=0;QD=32.94;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000172853 GT:AD:DP:GQ:PL 1/1:0,115:115:99:3789,277,0
2 152566433 rs12464543 A G 389.83 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.99;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000172853 GT:AD:DP:GQ:PL 1/1:0,13:13:33.11:423,33,0
2 152573902 rs34733773 A AGGC 5646.16 PASS AC=2;AF=1.00;AN=2;DB;DP=91;FS=0.0;HRun=0;HaplotypeScore=315.0473;IndelType=I;MQ=56.53;MQ0=0;QD=62.05;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000172853 GT:AD:DP:GQ:PL 1/1:5,85:91:99:5646,259,0
2 152573981 rs4611637 A G 4181.97 PASS AC=2;AF=1.00;AN=2;DB;DP=129;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.22;MQ0=0;QD=32.42;SNPEFF_AMINO_ACID_CHANGE=A257;SNPEFF_CODON_CHANGE=gcT/gcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_152573930_152574034;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000172853 GT:AD:DP:GQ:PL 1/1:0,129:129:99:4182,334,0
2 152574284 rs4413159 G A 44.87 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.44;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000172853 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:76,6,0
2 152581866 rs4300824 T C 1484.30 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=39.06;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000172853 GT:AD:DP:GQ:PL 1/1:0,38:38:99:1517,114,0
2 152584153 rs4664499 A C 1435.30 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.01;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000172853 GT:AD:DP:GQ:PL 1/1:0,41:41:99:1468,111,0
2 152668750 rs2030588 C A 252.06 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.01;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ARL5A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295087 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:285,21,0
2 152684704 rs67347668 A AC 294.25 PASS AB=0.561;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.794;DB;DP=23;FS=2.963;HRun=9;HaplotypeScore=132.1502;IndelType=I;MQ=61.58;MQ0=0;MQRankSum=0.65;QD=12.79;ReadPosRankSum=1.804;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNB4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360283 GT:AD:DP:GQ:PL 0/1:5,17:23:33.06:333,0,33
2 152717360 . C A 258.09 PASS AB=0.507;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.452;DP=75;Dels=0.0;FS=52.899;HRun=2;HaplotypeScore=6.6321;MQ=57.17;MQ0=0;MQRankSum=-0.956;QD=3.44;ReadPosRankSum=1.415;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNB4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470066 GT:AD:DP:GQ:PL 0/1:38,37:75:99:288,0,704
2 152729138 rs770609 T C 450.16 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.63;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNB4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000434468 GT:AD:DP:GQ:PL 1/1:0,13:13:36.12:483,36,0
2 152739506 rs2680972 T C 34.68 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=11.56;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNB4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475848 GT:AD:DP:GQ:PL 1/1:0,3:3:6.01:66,6,0
2 152827973 rs7567588 A G 1181.07 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.74;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNB4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000201943 GT:AD:DP:GQ:PL 1/1:0,35:35:90.28:1214,90,0
2 152828281 rs7607341 C G 37.20 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.6;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNB4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000201943 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:68,6,0
2 153192324 rs2003332 C T 335.52 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMNL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288670 GT:AD:DP:GQ:PL 1/1:0,10:10:30.07:369,30,0
2 153378459 rs4664114 T C 2369.34 PASS AC=2;AF=1.00;AN=2;DB;DP=71;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7074;MQ=59.68;MQ0=0;QD=33.37;SNPEFF_AMINO_ACID_CHANGE=N40;SNPEFF_CODON_CHANGE=aaT/aaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_153378457_153378540;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMNL2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000288670 GT:AD:DP:GQ:PL 1/1:0,71:71:99:2402,178,0
2 153378574 rs4664592 A G 1550.88 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMNL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288670 GT:AD:DP:GQ:PL 1/1:0,47:47:99:1584,132,0
2 153378652 rs4664593 G A 495.22 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMNL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288670 GT:AD:DP:GQ:PL 1/1:0,14:14:39.13:528,39,0
2 153399594 rs2678301 G A 89.05 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.68;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMNL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288670 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:121,9,0
2 153415170 rs6705427 A C 95.62 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.268;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=63.17;MQ0=0;MQRankSum=0.103;QD=9.56;ReadPosRankSum=-0.336;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMNL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288670 GT:AD:DP:GQ:PL 0/1:5,5:10:99:126,0,186
2 153415234 . T TG 587.81 PASS AB=0.619;AC=1;AF=0.50;AN=2;BaseQRankSum=2.041;DP=39;FS=5.942;HRun=0;HaplotypeScore=231.4246;IndelType=I;MQ=61.48;MQ0=0;MQRankSum=0.814;QD=15.07;ReadPosRankSum=0.357;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMNL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288670 GT:AD:DP:GQ:PL 0/1:15,23:39:99:627,0,325
2 153415376 rs6434098 T G 547.53 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=0.397;DB;DP=34;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.018;QD=16.1;ReadPosRankSum=0.19;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMNL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288670 GT:AD:DP:GQ:PL 0/1:16,18:34:99:578,0,529
2 153417325 rs6713836 A G 94.87 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=0.529;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.135;QD=7.91;ReadPosRankSum=-1.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMNL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288670 GT:AD:DP:GQ:PL 0/1:7,5:12:99:125,0,234
2 153435288 rs12693407 G A 154.28 PASS AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=25.71;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMNL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288670 GT:AD:DP:GQ:PL 0/1:1,5:6:24.17:184,0,24
2 153463984 rs5835438 TAC T 442.19 PASS AB=0.717;AC=1;AF=0.50;AN=2;BaseQRankSum=0.527;DB;DP=43;FS=0.0;HRun=0;HaplotypeScore=173.1064;IndelType=D;MQ=61.25;MQ0=0;MQRankSum=1.23;QD=10.28;ReadPosRankSum=-0.527;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMNL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288670 GT:AD:DP:GQ:PL 0/1:26,17:43:99:481,0,363
2 153467862 rs10931191 C A 305.50 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=8;HaplotypeScore=0.0;MQ=58.05;MQ0=0;QD=25.46;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMNL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000492942 GT:AD:DP:GQ:PL 1/1:0,12:12:30.08:338,30,0
2 153468107 rs35776654 C T 1662.58 PASS AB=0.56;AC=1;AF=0.50;AN=2;BaseQRankSum=5.269;DB;DP=141;Dels=0.0;FS=6.3;HRun=0;HaplotypeScore=1.9998;MQ=59.34;MQ0=0;MQRankSum=-0.359;QD=11.79;ReadPosRankSum=0.248;SNPEFF_AMINO_ACID_CHANGE=D350;SNPEFF_CODON_CHANGE=gaC/gaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_153468009_153468119;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMNL2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000288670 GT:AD:DP:GQ:PL 0/1:79,62:141:99:1693,0,2077
2 153468404 rs4260194 A G 173.55 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.71;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMNL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000492942 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:206,15,0
2 153471200 rs13023975 T C 70.49 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.46;MQ0=0;MQRankSum=0.55;QD=8.81;ReadPosRankSum=1.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMNL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288670 GT:AD:DP:GQ:PL 0/1:4,4:8:99:100,0,140
2 153471255 rs70974877 T TCAAAACAAAACAAAACAAAA 1278.51 PASS AB=0.865;AC=1;AF=0.50;AN=2;BaseQRankSum=0.239;DB;DP=32;FS=0.0;HRun=0;HaplotypeScore=438.3024;IndelType=I;MQ=56.63;MQ0=0;MQRankSum=-2.044;QD=39.95;ReadPosRankSum=0.611;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMNL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288670 GT:AD:DP:GQ:PL 0/1:27,4:32:99:1318,0,2658
2 153473435 rs7596408 G A 178.70 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=1.031;DB;DP=12;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.8317;MQ=60.0;MQ0=0;MQRankSum=0.387;QD=14.89;ReadPosRankSum=1.031;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMNL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288670 GT:AD:DP:GQ:PL 0/1:5,6:12:99:209,0,171
2 153473521 rs12693415 A C 804.71 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=2.74;DB;DP=60;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=-0.903;QD=13.41;ReadPosRankSum=0.493;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMNL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288670 GT:AD:DP:GQ:PL 0/1:32,28:60:99:835,0,952
2 153473794 rs2304556 T G 720.68 PASS AB=0.353;AC=1;AF=0.50;AN=2;BaseQRankSum=3.946;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.27;QD=21.2;ReadPosRankSum=0.883;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMNL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288670 GT:AD:DP:GQ:PL 0/1:12,22:34:99:751,0,362
2 153476066 rs5835439 G GCCA 612.26 PASS AC=2;AF=1.00;AN=2;DB;DP=13;FS=0.0;HRun=0;HaplotypeScore=79.6911;IndelType=I;MQ=46.37;MQ0=0;QD=47.1;SNPEFF_AMINO_ACID_CHANGE=-558P;SNPEFF_CODON_CHANGE=-/CCA;SNPEFF_EFFECT=CODON_INSERTION;SNPEFF_EXON_ID=exon_2_153476023_153476232;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMNL2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000288670 GT:AD:DP:GQ:PL 1/1:2,10:13:36.10:654,36,0
2 153481943 rs2346532 T C 2866.26 PASS AC=2;AF=1.00;AN=2;DB;DP=79;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.367;MQ=59.42;MQ0=0;QD=36.28;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMNL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288670 GT:AD:DP:GQ:PL 1/1:0,79:79:99:2899,220,0
2 153482128 rs12478681 G A 1874.44 PASS AB=0.433;AC=1;AF=0.50;AN=2;BaseQRankSum=2.605;DB;DP=105;Dels=0.0;FS=3.188;HRun=0;HaplotypeScore=2.5105;MQ=59.78;MQ0=0;MQRankSum=-0.374;QD=17.85;ReadPosRankSum=-0.105;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMNL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288670 GT:AD:DP:GQ:PL 0/1:45,59:105:99:1904,0,1398
2 153483257 rs7604573 T C 1563.95 PASS AB=0.424;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.931;DB;DP=92;Dels=0.0;FS=3.882;HRun=0;HaplotypeScore=0.9159;MQ=60.0;MQ0=0;MQRankSum=-1.098;QD=17.0;ReadPosRankSum=-0.205;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMNL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000497192 GT:AD:DP:GQ:PL 0/1:39,53:92:99:1594,0,1231
2 153484685 rs3811570 G A 112.80 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=0.933;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.133;QD=8.06;ReadPosRankSum=-0.533;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMNL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000497192 GT:AD:DP:GQ:PL 0/1:9,5:14:99:143,0,276
2 153492910 rs1561267 G T 2201.42 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;QD=33.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMNL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288670 GT:AD:DP:GQ:PL 1/1:0,65:65:99:2234,175,0
2 153497168 rs1465818 C T 337.48 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.5;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMNL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288670 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:370,27,0
2 153504371 rs182064759 T G 2093.18 PASS AB=0.497;AC=1;AF=0.50;AN=2;BaseQRankSum=0.211;DB;DP=193;Dels=0.0;FS=8.571;HRun=1;HaplotypeScore=5.0616;MQ=57.53;MQ0=0;MQRankSum=-0.448;QD=10.85;ReadPosRankSum=0.094;SNPEFF_AMINO_ACID_CHANGE=F1077L;SNPEFF_CODON_CHANGE=ttT/ttG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_153504310_153506348;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FMNL2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000288670 GT:AD:DP:GQ:PL 0/1:96,97:193:99:2123,0,2805
2 153504552 rs12693429 G A 190.96 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=0.171;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.467;QD=8.68;ReadPosRankSum=1.058;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRPF40A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000410080 GT:AD:DP:GQ:PL 0/1:14,8:22:99:221,0,488
2 153514583 rs6713779 G C 1867.38 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.56;MQ0=0;QD=35.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRPF40A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356402 GT:AD:DP:GQ:PL 1/1:0,52:52:99:1900,138,0
2 153514610 rs12999331 T C 302.14 PASS AB=0.581;AC=1;AF=0.50;AN=2;BaseQRankSum=1.301;DB;DP=31;Dels=0.0;FS=3.774;HRun=1;HaplotypeScore=0.0;MQ=59.25;MQ0=0;MQRankSum=1.141;QD=9.75;ReadPosRankSum=-0.02;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRPF40A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356402 GT:AD:DP:GQ:PL 0/1:18,13:31:99:332,0,646
2 153514689 rs6746079 C T 169.70 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.068;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.78;QD=12.12;ReadPosRankSum=-0.91;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRPF40A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472760 GT:AD:DP:GQ:PL 0/1:7,7:14:99:200,0,247
2 153519524 rs1036526 A G 2867.72 PASS AC=2;AF=1.00;AN=2;DB;DP=83;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.72;MQ0=0;QD=34.55;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRPF40A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472760 GT:AD:DP:GQ:PL 1/1:0,83:83:99:2901,217,0
2 153520782 rs3762507 A G 4047.66 PASS AC=2;AF=1.00;AN=2;DB;DP=114;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=59.8;MQ0=0;QD=35.51;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRPF40A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356402 GT:AD:DP:GQ:PL 1/1:0,114:114:99:4048,292,0
2 153520819 rs3762506 C A 2821.96 PASS AC=2;AF=1.00;AN=2;DB;DP=74;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=59.69;MQ0=0;QD=38.13;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRPF40A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356402 GT:AD:DP:GQ:PL 1/1:0,74:74:99:2855,205,0
2 153525971 rs6727279 A C 134.95 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.49;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRPF40A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000545856 GT:AD:DP:GQ:PL 1/1:0,6:6:15.04:168,15,0
2 153527017 rs2118377 C T 999.48 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.46;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRPF40A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000545856 GT:AD:DP:GQ:PL 1/1:0,29:29:78.25:1032,78,0
2 153529361 rs2304559 T C 1406.64 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.8587;MQ=58.74;MQ0=0;QD=38.02;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRPF40A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000493468 GT:AD:DP:GQ:PL 1/1:0,37:37:99:1440,105,0
2 153534139 rs1437676 G A 367.55 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.76;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRPF40A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000448428 GT:AD:DP:GQ:PL 1/1:0,10:10:30.10:401,30,0
2 153535670 rs10166987 C T 1880.97 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.49;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRPF40A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356402 GT:AD:DP:GQ:PL 1/1:0,53:53:99:1914,144,0
2 153536173 rs6746321 A G 132.74 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.18;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRPF40A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356402 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:165,12,0
2 153549814 rs10172024 G C 51.75 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.87;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRPF40A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000450303 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:83,6,0
2 153572438 rs2346548 C T 3101.13 PASS AC=2;AF=1.00;AN=2;DB;DP=89;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=2.3893;MQ=59.74;MQ0=0;QD=34.84;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRPF40A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000486100 GT:AD:DP:GQ:PL 1/1:0,88:89:99:3134,238,0
2 153572800 rs17400715 G C 50.63 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRPF40A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356402 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
2 153577013 rs9646744 G A 782.77 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ARL6IP6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326446 GT:AD:DP:GQ:PL 1/1:0,22:22:60.20:816,60,0
2 153591378 rs10931263 C G 354.96 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.839;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.854;QD=16.13;ReadPosRankSum=0.066;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ARL6IP6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326446 GT:AD:DP:GQ:PL 0/1:11,11:22:99:385,0,390
2 154800874 rs4318348 A G 227.09 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.362;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.22;MQ0=0;MQRankSum=-0.724;QD=9.46;ReadPosRankSum=-0.976;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GALNT13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392825 GT:AD:DP:GQ:PL 0/1:15,9:24:99:257,0,522
2 155098390 rs2059335 G C 52.75 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GALNT13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392825 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
2 155099090 rs10166119 G A 51.16 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GALNT13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392825 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
2 155265623 rs1405936 G A 898.25 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.08;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GALNT13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392825 GT:AD:DP:GQ:PL 1/1:0,28:28:69.20:931,69,0
2 155295072 rs11352693 AT A 504.12 PASS AB=0.684;AC=1;AF=0.50;AN=2;BaseQRankSum=5.583;DB;DP=52;FS=1.796;HRun=8;HaplotypeScore=120.082;IndelType=D;MQ=60.18;MQ0=0;MQRankSum=2.146;QD=9.69;ReadPosRankSum=0.456;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GALNT13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392825 GT:AD:DP:GQ:PL 0/1:28,24:52:99:543,0,788
2 155295380 rs697647 T C 198.64 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.62;MQ0=0;QD=28.38;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GALNT13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000487047 GT:AD:DP:GQ:PL 1/1:0,7:7:18.05:232,18,0
2 155306885 rs697648 C T 1360.94 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.78;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GALNT13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392825 GT:AD:DP:GQ:PL 1/1:0,37:37:99:1394,102,0
2 155711357 rs17642086 T C 1177.40 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.594;DB;DP=88;Dels=0.0;FS=0.816;HRun=0;HaplotypeScore=0.9159;MQ=60.0;MQ0=0;MQRankSum=0.22;QD=13.38;ReadPosRankSum=0.41;SNPEFF_AMINO_ACID_CHANGE=H346;SNPEFF_CODON_CHANGE=caT/caC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_155711239_155714863;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNJ3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000295101 GT:AD:DP:GQ:PL 0/1:44,44:88:99:1207,0,1377
2 157183211 rs67201721 TC T 3145.63 PASS AB=0.701;AC=1;AF=0.50;AN=2;BaseQRankSum=11.189;DB;DP=246;DS;FS=4.475;HRun=3;HaplotypeScore=611.1554;IndelType=D;MQ=59.86;MQ0=0;MQRankSum=1.151;QD=12.79;ReadPosRankSum=1.246;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NR4A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421709 GT:AD:DP:GQ:PL 0/1:141,105:246:99:3185,0,5082
2 157370018 rs56102423 GT G 180.13 PASS AB=0.654;AC=1;AF=0.50;AN=2;BaseQRankSum=1.417;DB;DP=34;FS=0.0;HRun=14;HaplotypeScore=177.9903;IndelType=D;MQ=57.23;MQ0=0;MQRankSum=0.22;QD=5.3;ReadPosRankSum=1.039;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000415049 GT:AD:DP:GQ:PL 0/1:14,17:34:99:219,0,168
2 157406249 rs2116665 G A 1404.71 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.39;MQ0=0;QD=36.97;SNPEFF_AMINO_ACID_CHANGE=R264H;SNPEFF_CODON_CHANGE=cGt/cAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_157406120_157406284;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPD2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000310454 GT:AD:DP:GQ:PL 1/1:0,38:38:99:1438,108,0
2 157406296 rs2116664 A C 737.03 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.78;MQ0=0;QD=38.79;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310454 GT:AD:DP:GQ:PL 1/1:0,19:19:57.19:770,57,0
2 157407180 . G A 633.72 PASS AB=0.432;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.449;DP=37;Dels=0.0;FS=1.926;HRun=0;HaplotypeScore=1.748;MQ=60.0;MQ0=0;MQRankSum=-0.462;QD=17.13;ReadPosRankSum=-0.971;SNPEFF_AMINO_ACID_CHANGE=R298H;SNPEFF_CODON_CHANGE=cGc/cAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_157407114_157407258;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPD2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000310454 GT:AD:DP:GQ:PL 0/1:16,21:37:99:664,0,499
2 157413751 rs56243710 T C 238.97 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310454 GT:AD:DP:GQ:PL 1/1:0,7:7:21.06:272,21,0
2 157425502 rs111632658 C CT 250.77 PASS AB=0.838;AC=1;AF=0.50;AN=2;BaseQRankSum=0.647;DB;DP=57;FS=12.409;HRun=16;HaplotypeScore=541.9665;IndelType=I;MQ=47.89;MQ0=0;MQRankSum=-0.717;QD=4.4;ReadPosRankSum=-0.332;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310454 GT:AD:DP:GQ:PL 0/1:45,9:57:94:290,0,94
2 157425801 rs67602053 A G 72.93 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=1.3;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.55;QD=10.42;ReadPosRankSum=-0.937;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310454 GT:AD:DP:GQ:PL 0/1:4,3:7:97.29:103,0,97
2 157427593 rs1469652 T C 1730.64 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.6;MQ0=0;QD=36.82;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310454 GT:AD:DP:GQ:PL 1/1:0,47:47:99:1764,132,0
2 157427837 rs1469651 C A 1284.93 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9967;MQ=59.36;MQ0=0;QD=35.69;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310454 GT:AD:DP:GQ:PL 1/1:0,36:36:96.32:1318,96,0
2 157427850 rs1469650 G A 1088.69 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.2;MQ0=0;QD=37.54;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310454 GT:AD:DP:GQ:PL 1/1:0,29:29:81.27:1122,81,0
2 158140717 rs2289942 C T 117.26 PASS AB=0.737;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.898;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.139;QD=6.17;ReadPosRankSum=0.88;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GALNT5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259056 GT:AD:DP:GQ:PL 0/1:14,5:19:99:147,0,526
2 158141079 rs2289941 T C 79.69 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=19.92;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GALNT5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259056 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:112,9,0
2 158152046 rs71915235 GA G 240.49 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.306;DB;DP=19;FS=0.0;HRun=13;HaplotypeScore=104.2138;IndelType=D;MQ=56.86;MQ0=0;MQRankSum=0.51;QD=12.66;ReadPosRankSum=-0.714;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GALNT5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259056 GT:AD:DP:GQ:PL 1/1:2,16:19:19.54:282,20,0
2 158157361 rs3214040 C T 953.28 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.11;MQ0=0;QD=36.66;SNPEFF_AMINO_ACID_CHANGE=H763;SNPEFF_CODON_CHANGE=caC/caT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_158157188_158157511;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GALNT5;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000259056 GT:AD:DP:GQ:PL 1/1:0,26:26:75.23:986,75,0
2 158162475 rs3214039 C T 48.31 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.16;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GALNT5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461704 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:80,6,0
2 158162521 rs3816595 T G 52.22 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.11;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GALNT5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461704 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:83,6,0
2 158164859 rs6437053 T C 921.51 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.19;MQ0=0;QD=40.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GALNT5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259056 GT:AD:DP:GQ:PL 1/1:0,23:23:69.23:955,69,0
2 158164885 rs6437054 A G 1707.25 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.59;MQ0=0;QD=37.94;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GALNT5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259056 GT:AD:DP:GQ:PL 1/1:0,45:45:99:1740,132,0
2 158165004 rs6728956 C T 7578.68 PASS AC=2;AF=1.00;AN=2;DB;DP=227;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.748;MQ=59.7;MQ0=0;QD=33.39;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GALNT5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259056 GT:AD:DP:GQ:PL 1/1:0,227:227:99:7579,563,0
2 158275111 rs71402390 T TA 163.79 PASS AB=0.812;AC=1;AF=0.50;AN=2;BaseQRankSum=1.309;DB;DP=56;FS=1.786;HRun=17;HaplotypeScore=445.1765;IndelType=I;MQ=51.04;MQ0=0;MQRankSum=-1.226;QD=2.92;ReadPosRankSum=0.145;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYTIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264192 GT:AD:DP:GQ:PL 0/1:40,11:56:99:203,0,113
2 158283710 rs155614 A G 128.71 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.18;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYTIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000439355 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:161,12,0
2 158284056 rs155613 C T 83.18 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.73;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYTIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000439355 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:115,9,0
2 158291107 rs70987792 T TAG 176.80 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.198;DB;DP=8;FS=0.0;HRun=0;HaplotypeScore=36.726;IndelType=I;MQ=58.46;MQ0=0;MQRankSum=-0.198;QD=22.1;ReadPosRankSum=-0.922;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYTIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000435117 GT:AD:DP:GQ:PL 0/1:3,5:8:49.65:216,0,50
2 158291188 rs11904180 A C 609.36 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.78;MQ0=0;QD=32.07;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYTIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000435117 GT:AD:DP:GQ:PL 1/1:0,19:19:51.16:642,51,0
2 158298105 rs7605373 T C 2084.23 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.7849;MQ=42.09;MQ0=0;QD=31.11;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYTIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264192 GT:AD:DP:GQ:PL 1/1:0,67:67:99:2117,178,0
2 158298115 rs112695012 TACACAC T 2432.89 PASS AC=2;AF=1.00;AN=2;DB;DP=70;FS=0.0;HRun=0;HaplotypeScore=727.2039;IndelType=D;MQ=42.58;MQ0=0;QD=34.76;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYTIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264192 GT:AD:DP:GQ:PL 1/1:26,42:70:99:2475,129,0
2 158300581 rs72906487 G C 354.95 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.888;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.136;QD=11.09;ReadPosRankSum=0.525;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYTIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000435117 GT:AD:DP:GQ:PL 0/1:20,12:32:99:385,0,697
2 158394813 rs6437105 T C 52.75 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACVR1C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000243349 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
2 158395079 rs77015367 C G 2204.39 PASS AC=2;AF=1.00;AN=2;DB;DP=75;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.4972;MQ=59.69;MQ0=0;QD=29.39;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACVR1C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000243349 GT:AD:DP:GQ:PL 1/1:0,74:75:99:2237,175,0
2 158399510 rs4254465 T A 512.84 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.75;MQ0=0;QD=34.19;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACVR1C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000243349 GT:AD:DP:GQ:PL 1/1:0,15:15:42.13:546,42,0
2 158399514 rs4461222 G T 408.58 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=58.75;MQ0=0;QD=27.24;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACVR1C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000243349 GT:AD:DP:GQ:PL 1/1:0,15:15:36.11:442,36,0
2 158399577 rs45501693 G A 37.98 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.026;QD=9.49;ReadPosRankSum=1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACVR1C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000243349 GT:AD:DP:GQ:PL 0/1:2,2:4:67.97:68,0,70
2 158400806 rs10432555 C A 85.12 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACVR1C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000243349 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:117,9,0
2 158400908 rs6728987 C T 949.51 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;QD=37.98;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACVR1C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000243349 GT:AD:DP:GQ:PL 1/1:0,25:25:75.24:983,75,0
2 158401137 rs10432556 T C 979.70 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.6;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACVR1C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000243349 GT:AD:DP:GQ:PL 1/1:0,31:31:81.25:1013,81,0
2 158412542 rs13010956 T C 193.62 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=2.257;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.562;QD=12.91;ReadPosRankSum=-2.025;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACVR1C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000243349 GT:AD:DP:GQ:PL 0/1:8,7:15:99:224,0,274
2 158443889 rs4556933 G A 1940.66 PASS AB=0.469;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.096;DB;DP=130;Dels=0.0;FS=0.817;HRun=2;HaplotypeScore=0.9989;MQ=59.86;MQ0=0;MQRankSum=-0.134;QD=14.93;ReadPosRankSum=0.725;SNPEFF_AMINO_ACID_CHANGE=F38;SNPEFF_CODON_CHANGE=ttC/ttT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_158443699_158443929;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACVR1C;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000243349 GT:AD:DP:GQ:PL 0/1:61,69:130:99:1971,0,1921
2 158626980 rs1146031 C T 2640.11 PASS AC=2;AF=1.00;AN=2;DB;DP=86;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.73;MQ0=0;QD=30.7;SNPEFF_AMINO_ACID_CHANGE=E230;SNPEFF_CODON_CHANGE=gaG/gaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_158626880_158627026;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACVR1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000263640 GT:AD:DP:GQ:PL 1/1:0,86:86:99:2673,205,0
2 158636910 rs2227861 G A 1065.38 PASS AB=0.47;AC=1;AF=0.50;AN=2;BaseQRankSum=2.274;DB;DP=66;Dels=0.0;FS=6.623;HRun=0;HaplotypeScore=2.7992;MQ=59.65;MQ0=0;MQRankSum=-0.385;QD=16.14;ReadPosRankSum=-0.128;SNPEFF_AMINO_ACID_CHANGE=A90;SNPEFF_CODON_CHANGE=gcC/gcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_158636849_158637112;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACVR1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000263640 GT:AD:DP:GQ:PL 0/1:31,35:66:99:1095,0,976
2 158637137 rs1866885 A G 287.25 PASS AB=0.452;AC=1;AF=0.50;AN=2;BaseQRankSum=0.395;DB;DP=31;Dels=0.03;FS=0.0;HRun=4;HaplotypeScore=6.8128;MQ=57.05;MQ0=0;MQRankSum=-0.686;QD=8.98;ReadPosRankSum=0.021;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACVR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263640 GT:AD:DP:GQ:PL 0/1:14,17:31:99:317,0,233
2 158655883 rs68110751 C CAA 370.06 PASS AB=0.725;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.862;DB;DP=29;FS=3.203;HRun=11;HaplotypeScore=123.476;IndelType=I;MQ=57.57;MQ0=0;MQRankSum=0.4;QD=12.76;ReadPosRankSum=-1.016;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACVR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000413751 GT:AD:DP:GQ:PL 0/1:18,11:29:99:409,0,280
2 158974155 rs10176046 T G 216.79 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.97;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UPP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000005756 GT:AD:DP:GQ:PL 1/1:0,7:7:18.06:250,18,0
2 158978178 rs10804389 C G 1135.56 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9159;MQ=59.28;MQ0=0;QD=35.49;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UPP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000005756 GT:AD:DP:GQ:PL 1/1:0,32:32:87.24:1169,87,0
2 158980577 rs6437135 A T 128.01 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.6;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UPP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000005756 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:161,12,0
2 158980662 rs6437136 A G 51.75 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UPP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000005756 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:83,6,0
2 158980689 rs6437137 T C 51.08 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.54;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UPP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000005756 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
2 158991346 rs144945330 C T 955.31 PASS AB=0.53;AC=1;AF=0.50;AN=2;BaseQRankSum=3.328;DB;DP=67;Dels=0.0;FS=2.056;HRun=0;HaplotypeScore=4.9606;MQ=59.66;MQ0=0;MQRankSum=0.668;QD=14.26;ReadPosRankSum=0.411;SNPEFF_AMINO_ACID_CHANGE=R300W;SNPEFF_CODON_CHANGE=Cgg/Tgg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_158991260_158992478;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UPP2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000005756 GT:AD:DP:GQ:PL 0/1:35,31:67:99:985,0,976
2 159028800 rs2222390 A G 662.10 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.95;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC148;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283233 GT:AD:DP:GQ:PL 1/1:0,17:17:51.17:695,51,0
2 159077019 rs958671 A C 530.44 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;QD=29.47;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC148;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283233 GT:AD:DP:GQ:PL 1/1:0,18:18:45.12:563,45,0
2 159077407 rs11896761 G A 124.24 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.06;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC148;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283233 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:157,12,0
2 159107659 rs10933464 A G 52.75 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC148;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283233 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
2 159166069 rs7559772 T C 1810.37 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.54;MQ0=0;QD=36.21;SNPEFF_AMINO_ACID_CHANGE=K177R;SNPEFF_CODON_CHANGE=aAg/aGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_159165945_159166151;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC148;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000375617 GT:AD:DP:GQ:PL 1/1:0,50:50:99:1843,141,0
2 159312733 rs1111212 C T 43.46 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.73;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC148;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283233 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:75,6,0
2 159490456 rs917242 C A 374.67 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.06;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PKP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389757 GT:AD:DP:GQ:PL 1/1:0,11:11:30.10:408,30,0
2 159498850 rs2253652 A G 213.88 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.65;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PKP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000494945 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:247,18,0
2 159498940 rs2253537 A T 722.64 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.13;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PKP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000494945 GT:AD:DP:GQ:PL 1/1:0,20:20:57.19:756,57,0
2 159520085 rs3771679 G C 242.17 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.6;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PKP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389756 GT:AD:DP:GQ:PL 1/1:0,7:7:21.06:275,21,0
2 159522879 rs2248854 C G 1498.82 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.56;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PKP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389756 GT:AD:DP:GQ:PL 1/1:0,41:41:99:1532,111,0
2 159530651 rs2711034 A T 472.46 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.5;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PKP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000495123 GT:AD:DP:GQ:PL 1/1:0,15:15:39.13:505,39,0
2 159663599 rs9869 T C 1846.39 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.39;SNPEFF_AMINO_ACID_CHANGE=L60P;SNPEFF_CODON_CHANGE=cTg/cCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_159663567_159663627;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DAPL1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000309950 GT:AD:DP:GQ:PL 1/1:0,57:57:99:1879,138,0
2 159672168 rs1515922 G A 2124.29 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.82;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DAPL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309950 GT:AD:DP:GQ:PL 1/1:0,61:61:99:2157,160,0
2 159672252 rs61740878 G A 2914.92 PASS AC=2;AF=1.00;AN=2;DB;DP=84;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=59.73;MQ0=0;QD=34.7;SNPEFF_AMINO_ACID_CHANGE=A81;SNPEFF_CODON_CHANGE=gcG/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_159672217_159672505;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DAPL1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000309950 GT:AD:DP:GQ:PL 1/1:0,84:84:99:2948,220,0
2 159672442 rs10016 G A 524.87 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.49;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DAPL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409042 GT:AD:DP:GQ:PL 1/1:0,14:14:42.14:558,42,0
2 159718996 rs10169584 C T 4367.69 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.048;DB;DP=131;Dels=0.0;FS=2.765;HRun=0;HaplotypeScore=0.0;MQ=47.92;MQ0=2;MQRankSum=-1.681;QD=33.34;ReadPosRankSum=0.183;SNPEFF_EFFECT=INTRAGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DAPL1;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 1/1:3,128:131:99:4368,292,0
2 159731466 rs10186922 A G 5103.90 PASS AC=2;AF=1.00;AN=2;DB;DP=156;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=54.88;MQ0=0;QD=32.72;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=AC064843.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000454836 GT:AD:DP:GQ:PL 1/1:0,156:156:99:5104,403,0
2 159731808 rs13420835 G A 2867.18 PASS AC=2;AF=1.00;AN=2;DB;DP=81;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.34;MQ0=0;QD=35.4;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=AC064843.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000454836 GT:AD:DP:GQ:PL 1/1:0,81:81:99:2900,214,0
2 159732154 rs12694985 A T 1059.08 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=55.15;MQ0=0;QD=35.3;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=AC064843.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000454836 GT:AD:DP:GQ:PL 1/1:0,30:30:84.23:1092,84,0
2 159954420 rs13414916 C T 1404.56 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.01;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TANC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263635 GT:AD:DP:GQ:PL 1/1:0,39:39:99:1438,108,0
2 159992560 rs35231270 T TGTGC 238.63 PASS AC=2;AF=1.00;AN=2;DB;DP=12;FS=0.0;HRun=0;HaplotypeScore=102.0125;IndelType=I;MQ=58.68;MQ0=0;QD=19.89;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TANC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263635 GT:AD:DP:GQ:PL 1/1:4,7:12:29.95:281,30,0
2 159992572 rs35935932 C T 197.99 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.734;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9983;MQ=59.25;MQ0=0;MQRankSum=1.561;QD=9.43;ReadPosRankSum=-1.214;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TANC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263635 GT:AD:DP:GQ:PL 1/1:2,19:21:26.97:231,27,0
2 160005515 rs7583577 G C 842.50 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.8216;MQ=59.07;MQ0=0;QD=33.7;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TANC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263635 GT:AD:DP:GQ:PL 1/1:0,24:25:66.22:876,66,0
2 160019863 rs12466551 A G 1465.06 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7005;MQ=60.0;MQ0=0;QD=32.56;SNPEFF_AMINO_ACID_CHANGE=N145S;SNPEFF_CODON_CHANGE=aAc/aGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_160019794_160020057;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TANC1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000454300 GT:AD:DP:GQ:PL 1/1:0,45:45:99:1498,114,0
2 160033174 rs759034 A G 150.41 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.08;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TANC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263635 GT:AD:DP:GQ:PL 1/1:0,5:5:15.03:183,15,0
2 160034919 rs4665031 A G 419.91 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.17;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TANC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263635 GT:AD:DP:GQ:PL 1/1:0,11:11:33.11:453,33,0
2 160035207 rs6748288 T C 1544.72 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.92;SNPEFF_AMINO_ACID_CHANGE=N575;SNPEFF_CODON_CHANGE=aaT/aaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_160035067_160035674;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TANC1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000454300 GT:AD:DP:GQ:PL 1/1:0,43:43:99:1578,120,0
2 160042430 rs13389867 G A 445.01 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.81;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TANC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263635 GT:AD:DP:GQ:PL 1/1:0,16:16:39.07:478,39,0
2 160055448 rs13430891 T A 982.78 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.14;MQ0=0;QD=36.4;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TANC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263635 GT:AD:DP:GQ:PL 1/1:0,27:27:75.25:1016,75,0
2 160073762 rs1035056 A G 43.44 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=14.48;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TANC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263635 GT:AD:DP:GQ:PL 0/1:1,2:3:27.95:73,0,28
2 160073768 rs1035057 A G 30.55 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=10.18;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TANC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263635 GT:AD:DP:GQ:PL 0/1:1,2:3:31.62:61,0,32
2 160073881 rs1035058 C T 532.12 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.292;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=-0.837;QD=16.63;ReadPosRankSum=2.316;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TANC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263635 GT:AD:DP:GQ:PL 0/1:12,20:32:99:562,0,413
2 160073895 rs4665042 G C 365.47 PASS AB=0.61;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.227;DB;DP=41;Dels=0.0;FS=5.825;HRun=0;HaplotypeScore=2.3972;MQ=60.0;MQ0=0;MQRankSum=-1.59;QD=8.91;ReadPosRankSum=-1.136;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TANC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263635 GT:AD:DP:GQ:PL 0/1:25,16:41:99:395,0,808
2 160074181 rs2288107 G C 164.51 PASS AB=0.619;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.919;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9469;MQ=58.89;MQ0=0;MQRankSum=-0.833;QD=7.83;ReadPosRankSum=-0.76;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TANC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263635 GT:AD:DP:GQ:PL 0/1:13,8:21:99:195,0,418
2 160074271 rs2288108 C A 102.01 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.529;DB;DP=12;Dels=0.0;FS=3.802;HRun=0;HaplotypeScore=0.0;MQ=58.43;MQ0=0;MQRankSum=-0.529;QD=8.5;ReadPosRankSum=0.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TANC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263635 GT:AD:DP:GQ:PL 0/1:7,5:12:99:132,0,257
2 160075886 rs3214491 G GC 653.01 PASS AB=0.747;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.21;DB;DP=62;FS=1.098;HRun=3;HaplotypeScore=137.8329;IndelType=I;MQ=60.17;MQ0=0;MQRankSum=-0.259;QD=10.53;ReadPosRankSum=0.032;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TANC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263635 GT:AD:DP:GQ:PL 0/1:41,21:62:99:692,0,1158
2 160076026 rs2303334 C G 128.20 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.098;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.268;QD=12.82;ReadPosRankSum=1.098;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TANC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263635 GT:AD:DP:GQ:PL 0/1:5,5:10:99:158,0,174
2 160076077 rs2303335 T A 146.54 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=1.532;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.8332;MQ=58.05;MQ0=0;MQRankSum=-0.466;QD=12.21;ReadPosRankSum=1.186;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TANC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263635 GT:AD:DP:GQ:PL 0/1:5,6:12:99:177,0,164
2 160082354 rs12692544 C T 168.24 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.568;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.633;QD=16.82;ReadPosRankSum=-0.365;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TANC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263635 GT:AD:DP:GQ:PL 0/1:4,6:10:99:198,0,139
2 160082364 rs34344829 A G 112.03 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.922;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.421;QD=14.0;ReadPosRankSum=-0.421;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TANC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263635 GT:AD:DP:GQ:PL 0/1:4,4:8:99:142,0,134
2 160082384 rs13419975 T A 98.89 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=14.13;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TANC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263635 GT:AD:DP:GQ:PL 0/1:3,4:7:94.36:129,0,94
2 160084224 rs2042494 G A 148.01 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.45;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.103;QD=14.8;ReadPosRankSum=-0.336;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TANC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263635 GT:AD:DP:GQ:PL 0/1:5,5:10:99:178,0,153
2 160084263 rs2042495 A G 141.01 PASS AB=0.647;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.261;DB;DP=17;Dels=0.0;FS=4.523;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.251;QD=8.29;ReadPosRankSum=-0.251;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TANC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263635 GT:AD:DP:GQ:PL 0/1:11,6:17:99:171,0,397
2 160084534 rs2288111 A G 682.43 PASS AB=0.52;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.719;DB;DP=50;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.9258;MQ=59.54;MQ0=0;MQRankSum=0.553;QD=13.65;ReadPosRankSum=-0.825;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TANC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263635 GT:AD:DP:GQ:PL 0/1:26,24:50:99:712,0,897
2 160087535 rs3821301 T G 475.32 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=3.486;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=-0.019;QD=14.85;ReadPosRankSum=1.074;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDSUB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358147 GT:AD:DP:GQ:PL 0/1:16,16:32:99:505,0,504
2 160092703 rs72203422 T TA 189.64 PASS AB=0.723;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.581;DB;DP=34;FS=0.0;HRun=12;HaplotypeScore=99.8444;IndelType=I;MQ=59.64;MQ0=0;MQRankSum=0.519;QD=5.58;ReadPosRankSum=0.415;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TANC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263635 GT:AD:DP:GQ:PL 0/1:21,12:34:99:229,0,250
2 160104896 rs73004952 C A 453.49 PASS AB=0.609;AC=1;AF=0.50;AN=2;BaseQRankSum=2.104;DB;DP=46;Dels=0.0;FS=11.996;HRun=0;HaplotypeScore=0.0;MQ=59.59;MQ0=0;MQRankSum=-1.272;QD=9.86;ReadPosRankSum=-1.429;SNPEFF_AMINO_ACID_CHANGE=P328;SNPEFF_CODON_CHANGE=ccG/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_160104883_160105023;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDSUB1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000358147 GT:AD:DP:GQ:PL 0/1:28,18:46:99:483,0,879
2 160112881 rs7591849 G T 1534.91 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.44;SNPEFF_AMINO_ACID_CHANGE=R228S;SNPEFF_CODON_CHANGE=Cgc/Agc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_160112707_160112886;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDSUB1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000358147 GT:AD:DP:GQ:PL 1/1:0,41:41:99:1568,117,0
2 160114437 rs3213715 G A 341.10 PASS AB=0.52;AC=1;AF=0.50;AN=2;BaseQRankSum=1.115;DB;DP=25;Dels=0.0;FS=6.455;HRun=2;HaplotypeScore=0.0;MQ=59.07;MQ0=0;MQRankSum=-0.082;QD=13.64;ReadPosRankSum=1.496;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDSUB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358147 GT:AD:DP:GQ:PL 0/1:13,12:25:99:371,0,417
2 160116281 rs4665052 A G 111.76 PASS AB=0.611;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.717;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.3123;MQ=60.0;MQ0=0;MQRankSum=-1.177;QD=6.21;ReadPosRankSum=0.634;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDSUB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358147 GT:AD:DP:GQ:PL 0/1:11,7:18:99:142,0,336
2 160128202 rs11891627 A C 808.13 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.932;DB;DP=60;Dels=0.0;FS=4.433;HRun=2;HaplotypeScore=1.8316;MQ=60.0;MQ0=0;MQRankSum=0.523;QD=13.47;ReadPosRankSum=-0.129;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDSUB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358147 GT:AD:DP:GQ:PL 0/1:30,30:60:99:838,0,905
2 160128343 rs11902271 C A 393.93 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.242;DB;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=0.034;QD=17.91;ReadPosRankSum=1.058;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDSUB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358147 GT:AD:DP:GQ:PL 0/1:8,14:22:99:424,0,273
2 160128520 rs7602019 A G 43.76 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.88;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDSUB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358147 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:75,6,0
2 160132089 rs16843852 T G 1337.54 PASS AB=0.518;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.469;DB;DP=112;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=59.55;MQ0=0;MQRankSum=-0.744;QD=11.94;ReadPosRankSum=0.284;SNPEFF_AMINO_ACID_CHANGE=K215T;SNPEFF_CODON_CHANGE=aAa/aCa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_160132057_160132149;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDSUB1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000358147 GT:AD:DP:GQ:PL 0/1:58,54:112:99:1368,0,1775
2 160132196 rs35620648 A AC 972.21 PASS AC=2;AF=1.00;AN=2;DB;DP=38;FS=0.0;HRun=7;HaplotypeScore=82.2974;IndelType=I;MQ=60.0;MQ0=0;QD=25.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDSUB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358147 GT:AD:DP:GQ:PL 1/1:10,28:38:84.26:1014,84,0
2 160136214 rs13399245 T C 495.78 PASS AB=0.486;AC=1;AF=0.50;AN=2;BaseQRankSum=0.248;DB;DP=35;Dels=0.0;FS=6.41;HRun=0;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=0.974;QD=14.17;ReadPosRankSum=-0.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDSUB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358147 GT:AD:DP:GQ:PL 0/1:17,18:35:99:526,0,596
2 160136337 rs174264 G A 1906.93 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.24;MQ0=0;QD=34.67;SNPEFF_AMINO_ACID_CHANGE=P173L;SNPEFF_CODON_CHANGE=cCg/cTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_160136272_160136456;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDSUB1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000358147 GT:AD:DP:GQ:PL 1/1:0,55:55:99:1940,141,0
2 160139048 rs10490001 C T 301.07 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.306;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=-1.55;QD=15.05;ReadPosRankSum=0.794;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDSUB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358147 GT:AD:DP:GQ:PL 0/1:10,10:20:99:331,0,342
2 160176943 rs174229 A C 1134.56 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.52;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BAZ2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000548440 GT:AD:DP:GQ:PL 1/1:0,36:36:87.28:1168,87,0
2 160182074 rs440241 T A 555.33 PASS AB=0.407;AC=1;AF=0.50;AN=2;BaseQRankSum=1.653;DB;DP=27;Dels=0.0;FS=3.9;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.518;QD=19.83;ReadPosRankSum=-0.962;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BAZ2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474437 GT:AD:DP:GQ:PL 0/1:11,16:27:99:585,0,342
2 160182302 rs415793 C T 1166.18 PASS AB=0.613;AC=1;AF=0.50;AN=2;BaseQRankSum=0.772;DB;DP=106;Dels=0.0;FS=0.753;HRun=1;HaplotypeScore=1.9731;MQ=60.0;MQ0=0;MQRankSum=1.356;QD=11.0;ReadPosRankSum=-0.065;SNPEFF_AMINO_ACID_CHANGE=S1924N;SNPEFF_CODON_CHANGE=aGt/aAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_160182164_160182429;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BAZ2B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000343439 GT:AD:DP:GQ:PL 0/1:65,41:106:99:1196,0,2101
2 160203934 rs965163 A C 620.66 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.2;MQ0=0;QD=21.4;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BAZ2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343439 GT:AD:DP:GQ:PL 1/1:0,17:29:48.16:654,48,0
2 160231108 rs6742788 A G 69.43 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=0.55;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.937;QD=9.92;ReadPosRankSum=1.754;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BAZ2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343439 GT:AD:DP:GQ:PL 0/1:4,3:7:99:99,0,139
2 160231317 rs73967854 A G 306.20 PASS AB=0.381;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.326;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.543;QD=14.58;ReadPosRankSum=-1.267;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BAZ2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343439 GT:AD:DP:GQ:PL 0/1:8,13:21:99:336,0,275
2 160231354 rs17577396 T G 178.61 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.073;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.259;QD=14.88;ReadPosRankSum=1.517;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BAZ2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343439 GT:AD:DP:GQ:PL 0/1:6,6:12:99:209,0,212
2 160239112 rs967997 T C 103.83 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.72;QD=17.31;ReadPosRankSum=-0.72;SNPEFF_AMINO_ACID_CHANGE=K1221;SNPEFF_CODON_CHANGE=aaA/aaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_160239070_160239313;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BAZ2B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000343439 GT:AD:DP:GQ:PL 0/1:2,4:6:62.59:134,0,63
2 160239378 rs2302927 A G 280.57 PASS AB=0.308;AC=1;AF=0.50;AN=2;BaseQRankSum=0.386;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.07;MQ0=0;MQRankSum=-0.231;QD=21.58;ReadPosRankSum=-0.386;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BAZ2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485917 GT:AD:DP:GQ:PL 0/1:4,9:13:91.65:311,0,92
2 160240333 rs13399308 G A 79.59 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=15.92;ReadPosRankSum=-0.358;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BAZ2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485917 GT:AD:DP:GQ:PL 0/1:2,3:5:69.72:110,0,70
2 160241936 rs1469015 A G 381.98 PASS AB=0.35;AC=1;AF=0.50;AN=2;BaseQRankSum=2.857;DB;DP=20;Dels=0.0;FS=4.771;HRun=0;HaplotypeScore=0.0;MQ=59.13;MQ0=0;MQRankSum=-1.171;QD=19.1;ReadPosRankSum=0.234;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BAZ2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343439 GT:AD:DP:GQ:PL 0/1:7,13:20:99:412,0,149
2 160241998 rs5835743 C CTT 175.51 PASS AC=2;AF=1.00;AN=2;DB;DP=7;FS=0.0;HRun=9;HaplotypeScore=49.9408;IndelType=I;MQ=57.47;MQ0=0;QD=25.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BAZ2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343439 GT:AD:DP:GQ:PL 1/1:2,5:7:15.05:217,15,0
2 160245640 rs77557920 A C 30.55 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.231;QD=6.11;ReadPosRankSum=0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BAZ2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343439 GT:AD:DP:GQ:PL 0/1:3,2:5:60.54:61,0,111
2 160261721 rs35567166 T C 57.30 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.754;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9983;MQ=61.53;MQ0=0;MQRankSum=-0.937;QD=8.19;ReadPosRankSum=-0.937;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BAZ2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343439 GT:AD:DP:GQ:PL 0/1:3,4:7:87.29:87,0,104
2 160285060 rs57144725 C T 210.88 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.101;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.493;QD=16.22;ReadPosRankSum=-1.369;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BAZ2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000546335 GT:AD:DP:GQ:PL 0/1:6,7:13:99:241,0,202
2 160285575 rs12473781 C T 43.97 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=14.66;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BAZ2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000546335 GT:AD:DP:GQ:PL 0/1:1,2:3:33.20:74,0,33
2 160285660 rs10754963 T A 529.36 PASS AB=0.36;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.236;DB;DP=25;Dels=0.0;FS=13.945;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.425;QD=21.17;ReadPosRankSum=-0.991;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BAZ2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000546335 GT:AD:DP:GQ:PL 0/1:9,16:25:99:559,0,196
2 160289911 rs10187471 A G 404.31 PASS AB=0.559;AC=1;AF=0.50;AN=2;BaseQRankSum=1.318;DB;DP=34;Dels=0.0;FS=1.725;HRun=0;HaplotypeScore=0.0;MQ=58.76;MQ0=0;MQRankSum=0.208;QD=11.89;ReadPosRankSum=0.069;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BAZ2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467184 GT:AD:DP:GQ:PL 0/1:19,15:34:99:434,0,620
2 160294779 rs3213791 T C 237.46 PASS AB=0.64;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.085;DB;DP=25;Dels=0.0;FS=2.072;HRun=0;HaplotypeScore=0.0;MQ=59.07;MQ0=0;MQRankSum=-0.425;QD=9.5;ReadPosRankSum=-0.198;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BAZ2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000482503 GT:AD:DP:GQ:PL 0/1:16,9:25:99:267,0,452
2 160294842 rs3213790 A G 352.40 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.334;DB;DP=30;Dels=0.0;FS=6.043;HRun=0;HaplotypeScore=0.0;MQ=59.23;MQ0=0;MQRankSum=0.191;QD=11.75;ReadPosRankSum=0.995;SNPEFF_AMINO_ACID_CHANGE=L359S;SNPEFF_CODON_CHANGE=tTa/tCa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_160294814_160295206;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BAZ2B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000546335 GT:AD:DP:GQ:PL 0/1:18,12:30:99:382,0,605
2 160295297 rs2302923 C A 1436.86 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=59.41;MQ0=0;QD=36.84;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BAZ2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343439 GT:AD:DP:GQ:PL 1/1:0,39:39:99:1470,111,0
2 160295732 rs13417010 C T 795.31 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=5.389;DB;DP=60;Dels=0.0;FS=2.957;HRun=0;HaplotypeScore=0.0;MQ=59.62;MQ0=0;MQRankSum=0.288;QD=13.26;ReadPosRankSum=-0.806;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BAZ2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343439 GT:AD:DP:GQ:PL 0/1:30,30:60:99:825,0,787
2 160304741 rs12470533 A T 521.07 PASS AB=0.487;AC=1;AF=0.50;AN=2;BaseQRankSum=1.401;DB;DP=39;Dels=0.0;FS=1.594;HRun=1;HaplotypeScore=0.0;MQ=59.52;MQ0=0;MQRankSum=-0.029;QD=13.36;ReadPosRankSum=-0.496;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BAZ2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000437839 GT:AD:DP:GQ:PL 0/1:19,20:39:99:551,0,612
2 160310246 rs10202670 A G 425.19 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.921;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.08;MQ0=0;MQRankSum=0.648;QD=19.33;ReadPosRankSum=1.263;SNPEFF_AMINO_ACID_CHANGE=M71T;SNPEFF_CODON_CHANGE=aTg/aCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_160310124_160310312;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BAZ2B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000343439 GT:AD:DP:GQ:PL 0/1:8,14:22:99:455,0,262
2 160335315 rs72947590 T C 178.41 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.741;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.365;QD=17.84;ReadPosRankSum=1.036;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BAZ2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343439 GT:AD:DP:GQ:PL 0/1:4,6:10:99:208,0,134
2 160585398 rs3732289 G C 116.54 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.72;QD=19.42;ReadPosRankSum=-0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MARCH7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259050 GT:AD:DP:GQ:PL 0/1:2,4:6:51.55:147,0,52
2 160585740 rs3821299 C A 247.49 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.237;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.002;QD=16.5;ReadPosRankSum=1.237;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MARCH7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259050 GT:AD:DP:GQ:PL 0/1:6,9:15:99:277,0,168
2 160602258 rs59109898 A G 433.36 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=0.369;DB;DP=42;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.8245;MQ=60.0;MQ0=0;MQRankSum=-0.597;QD=10.32;ReadPosRankSum=1.538;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MARCH7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421037 GT:AD:DP:GQ:PL 0/1:24,18:42:99:463,0,822
2 160604452 rs11555185 C T 632.63 PASS AB=0.604;AC=1;AF=0.50;AN=2;BaseQRankSum=0.718;DB;DP=53;Dels=0.0;FS=2.535;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.864;QD=11.94;ReadPosRankSum=-1.246;SNPEFF_AMINO_ACID_CHANGE=D161;SNPEFF_CODON_CHANGE=gaC/gaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_160604316_160605414;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MARCH7;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000539065 GT:AD:DP:GQ:PL 0/1:32,21:53:99:663,0,943
2 160604812 rs1427329 C T 410.92 PASS AB=0.651;AC=1;AF=0.50;AN=2;BaseQRankSum=2.434;DB;DP=43;Dels=0.0;FS=15.726;HRun=0;HaplotypeScore=0.0;MQ=59.46;MQ0=0;MQRankSum=-0.319;QD=9.56;ReadPosRankSum=1.134;SNPEFF_AMINO_ACID_CHANGE=P281;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_160604316_160605414;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MARCH7;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000539065 GT:AD:DP:GQ:PL 0/1:28,15:43:99:441,0,920
2 160605268 rs1365803 T C 6898.53 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.653;DB;DP=222;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=7.028;MQ=59.63;MQ0=0;MQRankSum=1.178;QD=31.07;ReadPosRankSum=-0.34;SNPEFF_AMINO_ACID_CHANGE=P433;SNPEFF_CODON_CHANGE=ccT/ccC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_160604316_160605414;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MARCH7;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000539065 GT:AD:DP:GQ:PL 1/1:1,221:222:99:6899,519,0
2 160619233 rs7569562 T G 155.56 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.11;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MARCH7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259050 GT:AD:DP:GQ:PL 1/1:0,5:5:15.04:188,15,0
2 160623590 rs12617546 G A 33.70 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.231;QD=6.74;ReadPosRankSum=0.358;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD302;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259053 GT:AD:DP:GQ:PL 0/1:3,2:5:63.69:64,0,110
2 160634564 rs35013477 ACC A 148.66 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=2.667;DB;DP=15;FS=0.0;HRun=3;HaplotypeScore=73.4429;IndelType=D;MQ=55.99;MQ0=0;MQRankSum=-1.467;QD=9.91;ReadPosRankSum=0.533;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD302;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259053 GT:AD:DP:GQ:PL 0/1:10,5:15:99:188,0,458
2 160637267 rs2303552 C A 170.53 PASS AB=0.579;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.537;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.702;QD=8.98;ReadPosRankSum=-2.436;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD302;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259053 GT:AD:DP:GQ:PL 0/1:11,8:19:99:201,0,398
2 160637324 rs2303551 A G 1214.23 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.8136;MQ=58.71;MQ0=0;QD=33.73;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD302;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259053 GT:AD:DP:GQ:PL 1/1:0,36:36:99:1247,99,0
2 160637621 rs2303550 G A 136.83 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=0.143;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=1.186;QD=12.44;ReadPosRankSum=0.717;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD302;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259053 GT:AD:DP:GQ:PL 0/1:6,5:11:99:167,0,207
2 160639970 rs2114626 T C 688.12 PASS AB=0.491;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.704;DB;DP=53;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=0.405;QD=12.98;ReadPosRankSum=2.044;SNPEFF_AMINO_ACID_CHANGE=S1611;SNPEFF_CODON_CHANGE=tcA/tcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_160639870_160639980;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LY75-CD302;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000505052 GT:AD:DP:GQ:PL 0/1:26,27:53:99:718,0,705
2 160663435 rs12463589 T C 320.68 PASS AB=0.657;AC=1;AF=0.50;AN=2;BaseQRankSum=0.921;DB;DP=35;Dels=0.0;FS=1.64;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.608;QD=9.16;ReadPosRankSum=1.164;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LY75-CD302;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000504764 GT:AD:DP:GQ:PL 0/1:23,12:35:99:351,0,712
2 160663678 rs7566887 T C 747.43 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.9;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LY75-CD302;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000504764 GT:AD:DP:GQ:PL 1/1:0,25:25:66.17:780,66,0
2 160664697 rs1346327 A G 45.91 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.96;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LY75-CD302;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000504764 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:77,6,0
2 160672235 rs7577691 T A 96.09 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=16.01;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LY75-CD302;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000504764 GT:AD:DP:GQ:PL 0/1:2,4:6:64.36:126,0,64
2 160673526 rs2059696 A G 439.06 PASS AB=0.548;AC=1;AF=0.50;AN=2;BaseQRankSum=0.935;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.25;MQ0=0;MQRankSum=0.145;QD=14.16;ReadPosRankSum=1.808;SNPEFF_AMINO_ACID_CHANGE=Y1391H;SNPEFF_CODON_CHANGE=Tat/Cat;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_160673317_160673543;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LY75-CD302;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000504764 GT:AD:DP:GQ:PL 0/1:17,14:31:99:469,0,503
2 160676427 rs12692566 C A 992.49 PASS AB=0.466;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=58;Dels=0.0;FS=6.984;HRun=1;HaplotypeScore=0.0;MQ=59.87;MQ0=0;MQRankSum=-0.218;QD=17.11;ReadPosRankSum=0.39;SNPEFF_AMINO_ACID_CHANGE=K1321N;SNPEFF_CODON_CHANGE=aaG/aaT;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_160676237_160676431;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LY75-CD302;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000504764 GT:AD:DP:GQ:PL 0/1:27,31:58:99:1022,0,864
2 160676445 rs36120198 A AT 663.34 PASS AB=0.676;AC=1;AF=0.50;AN=2;BaseQRankSum=2.471;DB;DP=46;FS=0.0;HRun=6;HaplotypeScore=180.4491;IndelType=I;MQ=60.07;MQ0=0;MQRankSum=-0.013;QD=14.42;ReadPosRankSum=-2.392;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LY75-CD302;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000504764 GT:AD:DP:GQ:PL 0/1:24,22:46:99:702,0,458
2 160688351 rs6755783 C T 486.30 PASS AB=0.528;AC=1;AF=0.50;AN=2;BaseQRankSum=0.982;DB;DP=36;Dels=0.0;FS=3.122;HRun=2;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=0.665;QD=13.14;ReadPosRankSum=-0.824;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LY75-CD302;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000504764 GT:AD:DP:GQ:PL 0/1:19,17:36:99:516,0,665
2 160697636 rs11690117 G T 58.61 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.754;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.55;QD=8.37;ReadPosRankSum=0.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LY75-CD302;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000504764 GT:AD:DP:GQ:PL 0/1:4,3:7:88.61:89,0,149
2 160698700 rs41265133 A C 361.47 PASS AB=0.567;AC=1;AF=0.50;AN=2;BaseQRankSum=3.881;DB;DP=30;Dels=0.0;FS=2.418;HRun=0;HaplotypeScore=0.0;MQ=59.23;MQ0=0;MQRankSum=0.636;QD=12.05;ReadPosRankSum=1.074;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LY75-CD302;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000504764 GT:AD:DP:GQ:PL 0/1:17,13:30:99:391,0,536
2 160708645 rs2162500 C G 357.90 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.077;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9578;MQ=60.0;MQ0=0;MQRankSum=-1.945;QD=16.27;ReadPosRankSum=-0.824;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LY75-CD302;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000504764 GT:AD:DP:GQ:PL 0/1:10,12:22:99:388,0,361
2 160710216 rs41264211 A G 521.83 PASS AB=0.549;AC=1;AF=0.50;AN=2;BaseQRankSum=0.786;DB;DP=52;Dels=0.0;FS=3.896;HRun=0;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=0.331;QD=10.04;ReadPosRankSum=0.161;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LY75-CD302;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000504764 GT:AD:DP:GQ:PL 0/1:28,23:52:99:552,0,807
2 160710922 rs2729705 T C 694.18 PASS AB=0.567;AC=1;AF=0.50;AN=2;BaseQRankSum=1.066;DB;DP=60;Dels=0.0;FS=5.852;HRun=0;HaplotypeScore=0.0;MQ=59.62;MQ0=0;MQRankSum=1.296;QD=11.57;ReadPosRankSum=-0.406;SNPEFF_AMINO_ACID_CHANGE=A848;SNPEFF_CODON_CHANGE=gcA/gcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_160710871_160711046;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LY75-CD302;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000504764 GT:AD:DP:GQ:PL 0/1:34,26:60:99:724,0,935
2 160711045 rs3951216 G C 451.53 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=1.003;DB;DP=26;Dels=0.0;FS=2.187;HRun=0;HaplotypeScore=0.0;MQ=59.11;MQ0=0;MQRankSum=0.283;QD=17.37;ReadPosRankSum=-0.489;SNPEFF_AMINO_ACID_CHANGE=D807E;SNPEFF_CODON_CHANGE=gaC/gaG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_160710871_160711046;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LY75-CD302;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000504764 GT:AD:DP:GQ:PL 0/1:12,14:26:99:482,0,356
2 160711556 rs975490 T G 282.76 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.05;MQ0=0;QD=35.34;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LY75-CD302;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000504764 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:316,24,0
2 160729134 rs1397705 A C 2708.03 PASS AC=2;AF=1.00;AN=2;DB;DP=75;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.515;MQ=60.0;MQ0=0;QD=36.11;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LY75-CD302;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000504764 GT:AD:DP:GQ:PL 1/1:0,75:75:99:2741,202,0
2 160729186 rs10168271 T C 605.85 PASS AB=0.313;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.373;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.675;QD=18.93;ReadPosRankSum=1.893;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LY75-CD302;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000504764 GT:AD:DP:GQ:PL 0/1:10,22:32:99:636,0,275
2 160729239 rs41264215 A G 247.75 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=1.555;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.75;MQ0=0;MQRankSum=0.428;QD=16.52;ReadPosRankSum=1.555;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LY75-CD302;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000504764 GT:AD:DP:GQ:PL 0/1:7,8:15:99:278,0,235
2 160734668 rs17828159 T C 74.21 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.406;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=12.37;ReadPosRankSum=0.988;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LY75-CD302;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000504764 GT:AD:DP:GQ:PL 0/1:3,3:6:99:104,0,102
2 160737495 rs2729712 A C 694.92 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.71;MQ0=0;QD=38.61;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LY75-CD302;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000504764 GT:AD:DP:GQ:PL 1/1:0,18:18:54.17:728,54,0
2 160737560 rs2729711 G T 2153.54 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.5239;MQ=59.28;MQ0=0;QD=33.65;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LY75-CD302;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000504764 GT:AD:DP:GQ:PL 1/1:0,63:64:99:2187,166,0
2 160737857 rs3835165 T TGTA 444.08 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.165;DB;DP=14;FS=0.0;HRun=0;HaplotypeScore=39.2464;IndelType=I;MQ=58.33;MQ0=0;MQRankSum=0.386;QD=31.72;ReadPosRankSum=0.193;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LY75-CD302;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000504764 GT:AD:DP:GQ:PL 0/1:6,8:14:99:483,0,243
2 160738509 rs66496937 A G 142.58 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.52;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LY75-CD302;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000504764 GT:AD:DP:GQ:PL 1/1:0,5:5:15.04:175,15,0
2 160743040 rs2271381 T A 598.67 PASS AB=0.474;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.33;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.39;MQ0=0;MQRankSum=-0.19;QD=15.75;ReadPosRankSum=0.307;SNPEFF_AMINO_ACID_CHANGE=E268D;SNPEFF_CODON_CHANGE=gaA/gaT;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_160742931_160743041;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LY75-CD302;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000504764 GT:AD:DP:GQ:PL 0/1:18,20:38:99:629,0,524
2 160805993 rs6726923 C G 214.25 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.78;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PLA2R1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283243 GT:AD:DP:GQ:PL 1/1:0,8:8:21.06:247,21,0
2 160807742 rs952184 A T 689.36 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.33;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PLA2R1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283243 GT:AD:DP:GQ:PL 1/1:0,22:22:54.18:722,54,0
2 160808075 rs3828323 C T 401.56 PASS AB=0.682;AC=1;AF=0.50;AN=2;BaseQRankSum=3.616;DB;DP=45;Dels=0.0;FS=3.006;HRun=0;HaplotypeScore=1.367;MQ=60.0;MQ0=0;MQRankSum=2.054;QD=8.92;ReadPosRankSum=-0.416;SNPEFF_AMINO_ACID_CHANGE=G1106S;SNPEFF_CODON_CHANGE=Ggt/Agt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_160807851_160808089;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PLA2R1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000283243 GT:AD:DP:GQ:PL 0/1:30,14:45:99:432,0,823
2 160808255 rs6432569 A G 39.26 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=13.09;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PLA2R1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283243 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:71,6,0
2 160832996 rs3749114 A T 35.61 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.231;QD=7.12;ReadPosRankSum=-1.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PLA2R1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283243 GT:AD:DP:GQ:PL 0/1:3,2:5:65.60:66,0,113
2 160833188 rs2715918 A G 588.36 PASS AB=0.554;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.464;DB;DP=56;Dels=0.0;FS=1.045;HRun=0;HaplotypeScore=1.3302;MQ=59.59;MQ0=0;MQRankSum=-0.77;QD=10.51;ReadPosRankSum=-1.592;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PLA2R1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283243 GT:AD:DP:GQ:PL 0/1:31,25:56:99:618,0,1073
2 160840370 rs5835784 AC A 254.73 PASS AB=0.688;AC=1;AF=0.50;AN=2;BaseQRankSum=3.33;DB;DP=22;FS=3.424;HRun=4;HaplotypeScore=51.33;IndelType=D;MQ=60.49;MQ0=0;MQRankSum=0.297;QD=11.58;ReadPosRankSum=0.297;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PLA2R1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283243 GT:AD:DP:GQ:PL 0/1:12,10:22:99:294,0,428
2 160862094 rs2667004 G A 172.16 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.466;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=-0.143;QD=15.65;ReadPosRankSum=-1.186;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PLA2R1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283243 GT:AD:DP:GQ:PL 0/1:5,6:11:99:202,0,138
2 160872989 rs143201024 GGT G 331.41 PASS AB=0.645;AC=1;AF=0.50;AN=2;BaseQRankSum=2.532;DB;DP=19;FS=0.0;HRun=0;HaplotypeScore=100.6588;IndelType=D;MQ=57.45;MQ0=1;MQRankSum=0.133;QD=16.57;ReadPosRankSum=1.288;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PLA2R1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283243 GT:AD:DP:GQ:PL 0/1:9,11:19:99:370,0,342
2 160873021 rs2715939 G A 454.79 PASS AB=0.441;AC=1;AF=0.50;AN=2;BaseQRankSum=0.271;DB;DP=34;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.86;MQ0=0;MQRankSum=1.5;QD=13.38;ReadPosRankSum=-0.09;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PLA2R1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283243 GT:AD:DP:GQ:PL 0/1:15,19:34:99:485,0,482
2 160873270 rs2667040 A G 462.09 PASS AB=0.543;AC=1;AF=0.50;AN=2;BaseQRankSum=4.652;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.578;MQ=59.65;MQ0=0;MQRankSum=0.878;QD=13.2;ReadPosRankSum=0.712;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PLA2R1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283243 GT:AD:DP:GQ:PL 0/1:19,16:35:99:492,0,507
2 160873294 rs35931317 T TA 183.94 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=2.621;DB;DP=20;FS=0.0;HRun=8;HaplotypeScore=84.0242;IndelType=I;MQ=59.39;MQ0=0;MQRankSum=-0.133;QD=9.2;ReadPosRankSum=-0.666;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PLA2R1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283243 GT:AD:DP:GQ:PL 0/1:12,8:20:99:223,0,221
2 160876827 rs1511213 A G 321.63 PASS AB=0.412;AC=1;AF=0.50;AN=2;BaseQRankSum=1.317;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9469;MQ=60.0;MQ0=0;MQRankSum=1.61;QD=18.92;ReadPosRankSum=1.22;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PLA2R1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283243 GT:AD:DP:GQ:PL 0/1:7,10:17:99:352,0,235
2 160885418 rs35771982 G C 632.29 PASS AB=0.457;AC=1;AF=0.50;AN=2;BaseQRankSum=1.057;DB;DP=46;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.51;MQ0=0;MQRankSum=0.376;QD=13.45;ReadPosRankSum=-0.094;SNPEFF_AMINO_ACID_CHANGE=H300D;SNPEFF_CODON_CHANGE=Cac/Gac;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_160885361_160885474;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PLA2R1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000283243 GT:AD:DP:GQ:PL 0/1:21,25:46:99:662,0,636
2 160885442 rs3749117 T C 557.95 PASS AB=0.475;AC=1;AF=0.50;AN=2;BaseQRankSum=2.871;DB;DP=40;Dels=0.0;FS=1.238;HRun=2;HaplotypeScore=0.5784;MQ=59.42;MQ0=0;MQRankSum=0.515;QD=13.95;ReadPosRankSum=-0.244;SNPEFF_AMINO_ACID_CHANGE=M292V;SNPEFF_CODON_CHANGE=Atg/Gtg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_160885361_160885474;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PLA2R1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000283243 GT:AD:DP:GQ:PL 0/1:19,21:40:99:588,0,559
2 160889673 rs2203053 G A 655.50 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.883;DB;DP=33;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8667;MQ=59.3;MQ0=0;MQRankSum=0.363;QD=19.86;ReadPosRankSum=-0.516;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PLA2R1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283243 GT:AD:DP:GQ:PL 0/1:11,22:33:99:685,0,376
2 160898583 . G T 34.68 QDFilter2 AB=0.721;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.596;DP=61;Dels=0.0;FS=29.538;HRun=2;HaplotypeScore=1.4972;MQ=56.9;MQ0=0;MQRankSum=-0.582;QD=0.57;ReadPosRankSum=-0.326;SNPEFF_AMINO_ACID_CHANGE=T207K;SNPEFF_CODON_CHANGE=aCa/aAa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_160898536_160898709;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PLA2R1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000283243 GT:AD:DP:GQ:PL 0/1:44,17:61:64.67:65,0,1056
2 160901517 rs4665143 A G 579.57 PASS AB=0.41;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.814;DB;DP=40;Dels=0.0;FS=1.357;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.443;QD=14.49;ReadPosRankSum=-2.013;SNPEFF_AMINO_ACID_CHANGE=S87;SNPEFF_CODON_CHANGE=agT/agC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_160901285_160901668;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PLA2R1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000283243 GT:AD:DP:GQ:PL 0/1:16,23:40:99:610,0,420
2 160919020 rs3749119 C T 45.53 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.77;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_2_160918806_160919121;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PLA2R1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000283243 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:77,6,0
2 160958349 rs34330288 GA G 421.43 PASS AC=2;AF=1.00;AN=2;DB;DP=24;FS=0.0;HRun=12;HaplotypeScore=90.3262;IndelType=D;MQ=60.79;MQ0=0;QD=17.56;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGB6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283249 GT:AD:DP:GQ:PL 1/1:1,23:24:59.74:463,60,0
2 160968743 rs66470452 CA C 436.51 PASS AB=0.674;AC=1;AF=0.50;AN=2;BaseQRankSum=2.24;DB;DP=31;FS=0.0;HRun=3;HaplotypeScore=81.8134;IndelType=D;MQ=59.61;MQ0=0;MQRankSum=-0.995;QD=14.08;ReadPosRankSum=-1.41;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGB6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283249 GT:AD:DP:GQ:PL 0/1:16,15:31:99:476,0,585
2 160993800 rs35720878 A T 140.15 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.221;DB;DP=8;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.956;QD=17.52;ReadPosRankSum=0.322;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGB6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485635 GT:AD:DP:GQ:PL 0/1:3,5:8:97.81:170,0,98
2 161028992 rs1037694 T C 457.07 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=3.932;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.4105;MQ=60.0;MQ0=0;MQRankSum=-0.475;QD=14.28;ReadPosRankSum=0.589;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGB6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283249 GT:AD:DP:GQ:PL 0/1:18,14:32:99:487,0,545
2 161029218 rs2305818 G A 1261.79 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.785;DB;DP=106;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=5.1452;MQ=59.61;MQ0=0;MQRankSum=0.361;QD=11.9;ReadPosRankSum=-0.222;SNPEFF_AMINO_ACID_CHANGE=D219;SNPEFF_CODON_CHANGE=gaC/gaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_161029080_161029241;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGB6;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000428609 GT:AD:DP:GQ:PL 0/1:56,49:106:99:1292,0,1762
2 161135000 rs1870106 G C 138.36 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.377;DB;DP=13;Dels=0.0;FS=7.16;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.555;QD=10.64;ReadPosRankSum=-0.66;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RBMS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000348849 GT:AD:DP:GQ:PL 0/1:6,7:13:99:168,0,177
2 161169828 rs10929977 C G 146.79 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.796;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9916;MQ=58.71;MQ0=0;MQRankSum=-0.047;QD=8.16;ReadPosRankSum=0.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RBMS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000348849 GT:AD:DP:GQ:PL 0/1:12,6:18:99:177,0,382
2 161174693 rs1430 C T 487.02 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=1.775;DB;DP=44;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9665;MQ=51.57;MQ0=0;MQRankSum=1.553;QD=11.07;ReadPosRankSum=-0.032;SNPEFF_AMINO_ACID_CHANGE=T66;SNPEFF_CODON_CHANGE=acG/acA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_161174680_161174738;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RBMS1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000409075 GT:AD:DP:GQ:PL 0/1:20,24:44:99:517,0,544
2 161223688 rs12692594 T A 245.62 PASS AB=0.476;AC=1;AF=0.50;AN=2;BaseQRankSum=0.669;DB;DP=21;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.9159;MQ=60.0;MQ0=0;MQRankSum=-1.373;QD=11.7;ReadPosRankSum=-0.387;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RBMS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000348849 GT:AD:DP:GQ:PL 0/1:10,11:21:99:276,0,317
2 161797329 rs1524626 C T 42.27 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=10.57;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTERGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 0/1:2,2:4:32.73:72,0,33
2 161797513 rs1524625 A G 828.23 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.629;DB;DP=48;Dels=0.0;FS=4.361;HRun=0;HaplotypeScore=0.0;MQ=59.52;MQ0=0;MQRankSum=0.011;QD=17.25;ReadPosRankSum=-0.755;SNPEFF_EFFECT=INTERGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 0/1:16,32:48:99:858,0,511
2 162059817 rs1267075 G A 130.68 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.67;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TANK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259075 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:163,12,0
2 162059969 rs11884495 A T 1327.71 PASS AB=0.506;AC=1;AF=0.50;AN=2;BaseQRankSum=2.573;DB;DP=89;Dels=0.0;FS=0.905;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.882;QD=14.92;ReadPosRankSum=-0.094;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TANK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259075 GT:AD:DP:GQ:PL 0/1:45,44:89:99:1358,0,1365
2 162061565 rs1267050 C G 52.75 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.37;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TANK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000403609 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
2 162091836 rs3754970 T C 723.64 PASS AB=0.55;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.282;DB;DP=61;Dels=0.0;FS=0.982;HRun=0;HaplotypeScore=0.0;MQ=59.62;MQ0=0;MQRankSum=1.428;QD=11.86;ReadPosRankSum=0.802;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TANK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000429217 GT:AD:DP:GQ:PL 0/1:33,27:61:99:754,0,1107
2 162175290 rs1116165 T C 2777.57 PASS AC=2;AF=1.00;AN=2;DB;DP=84;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.5;MQ0=0;QD=33.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSMD14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409682 GT:AD:DP:GQ:PL 1/1:0,84:84:99:2811,217,0
2 162224193 rs76686031 G GT 1683.44 PASS AC=2;AF=1.00;AN=2;DB;DP=45;FS=0.0;HRun=5;HaplotypeScore=91.9955;IndelType=I;MQ=61.66;MQ0=0;QD=37.41;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSMD14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409682 GT:AD:DP:GQ:PL 1/1:1,44:45:99:1725,132,0
2 162242226 rs10193429 C T 173.78 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.76;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSMD14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409682 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:207,15,0
2 162247772 rs1921674 C T 373.25 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.33;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSMD14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409682 GT:AD:DP:GQ:PL 1/1:0,10:10:30.10:406,30,0
2 162251437 rs11886577 T C 82.13 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.53;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSMD14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409682 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:114,9,0
2 162280748 rs890076 G A 95.56 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.66;MQ0=0;QD=9.56;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TBR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000411412 GT:AD:DP:GQ:PL 1/1:0,8:10:12.02:128,12,0
2 162359983 rs12620974 T C 2501.88 PASS AC=2;AF=1.00;AN=2;DB;DP=76;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.89;MQ0=0;QD=32.92;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SLC4A10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000482861 GT:AD:DP:GQ:PL 1/1:0,76:76:99:2535,196,0
2 162661031 . G A 1963.97 PASS AB=0.44;AC=1;AF=0.50;AN=2;BaseQRankSum=2.275;DP=125;Dels=0.0;FS=2.313;HRun=0;HaplotypeScore=2.5698;MQ=59.63;MQ0=0;MQRankSum=-1.43;QD=15.71;ReadPosRankSum=-0.614;SNPEFF_AMINO_ACID_CHANGE=R68H;SNPEFF_CODON_CHANGE=cGt/cAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_162660959_162661105;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SLC4A10;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000272716 GT:AD:DP:GQ:PL 0/1:55,70:125:99:1994,0,1570
2 162730312 rs35292746 T C 365.66 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.57;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SLC4A10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272716 GT:AD:DP:GQ:PL 1/1:0,10:10:30.09:399,30,0
2 162757676 rs6754546 A G 678.35 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.7;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SLC4A10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000493021 GT:AD:DP:GQ:PL 1/1:0,19:19:54.15:711,54,0
2 162803883 rs13421039 C T 174.42 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.88;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SLC4A10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272716 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:207,15,0
2 162813807 rs10221808 A G 1930.08 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.859;DB;DP=60;Dels=0.0;FS=5.049;HRun=0;HaplotypeScore=3.8355;MQ=59.23;MQ0=0;MQRankSum=0.272;QD=32.17;ReadPosRankSum=0.398;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SLC4A10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272716 GT:AD:DP:GQ:PL 1/1:2,57:60:99:1963,115,0
2 162852079 rs4140685 G T 49.30 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.65;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DPP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360534 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
2 162873188 rs2970931 T C 982.93 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=39.32;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DPP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468903 GT:AD:DP:GQ:PL 1/1:0,25:25:75.23:1016,75,0
2 162876828 rs71907837 CA C 120.75 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=0.065;DB;DP=18;FS=0.0;HRun=14;HaplotypeScore=152.9449;IndelType=D;MQ=38.13;MQ0=0;MQRankSum=-0.588;QD=6.71;ReadPosRankSum=0.457;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DPP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360534 GT:AD:DP:GQ:PL 0/1:8,9:18:21.72:160,0,22
2 162877028 rs12692646 T A 403.92 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.95;MQ0=0;QD=33.66;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DPP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360534 GT:AD:DP:GQ:PL 1/1:0,12:12:33.11:437,33,0
2 162879452 rs2302873 T C 199.24 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.21;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DPP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360534 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:232,18,0
2 162890175 rs1558957 T C 395.79 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.61;MQ0=0;QD=20.83;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DPP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461836 GT:AD:DP:GQ:PL 1/1:1,18:19:36.08:429,36,0
2 162890196 rs111263347 C CA 215.92 PASS AC=2;AF=1.00;AN=2;DB;DP=15;FS=0.0;HRun=12;HaplotypeScore=168.5189;IndelType=I;MQ=48.45;MQ0=0;QD=14.39;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DPP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461836 GT:AD:DP:GQ:PL 1/1:6,5:15:32.39:258,32,0
2 162890217 rs7608798 G A 243.41 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=46.42;MQ0=0;QD=18.72;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DPP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461836 GT:AD:DP:GQ:PL 1/1:0,13:13:21.07:276,21,0
2 162891848 rs6432708 C T 1186.65 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.8;MQ0=0;QD=33.9;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DPP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000413651 GT:AD:DP:GQ:PL 1/1:0,35:35:93.27:1220,93,0
2 162894766 rs10930040 A G 1264.18 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.39;MQ0=0;QD=33.27;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DPP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000413651 GT:AD:DP:GQ:PL 1/1:0,38:38:99:1297,99,0
2 162930725 rs13015258 T G 50.63 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.32;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DPP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000413651 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
2 163030336 rs3764917 T C 727.37 PASS AB=0.573;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.908;DB;DP=75;Dels=0.0;FS=1.139;HRun=0;HaplotypeScore=0.9734;MQ=59.38;MQ0=0;MQRankSum=-0.766;QD=9.7;ReadPosRankSum=-0.037;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=FAP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000188790 GT:AD:DP:GQ:PL 0/1:43,32:75:99:757,0,1485
2 163128824 rs3747517 T C 310.76 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.615;DB;DP=32;Dels=0.0;FS=1.393;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=1.109;QD=9.71;ReadPosRankSum=1.304;SNPEFF_AMINO_ACID_CHANGE=H843R;SNPEFF_CODON_CHANGE=cAt/cGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_163128736_163128897;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IFIH1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000263642 GT:AD:DP:GQ:PL 0/1:20,12:32:99:341,0,664
2 163694878 rs4667768 C G 377.79 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.05;MQ0=0;QD=31.48;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNH7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328032 GT:AD:DP:GQ:PL 1/1:0,12:12:33.08:411,33,0
2 163694886 rs4667769 G A 370.16 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=57.87;MQ0=0;QD=33.65;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNH7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328032 GT:AD:DP:GQ:PL 1/1:0,11:11:30.10:403,30,0
2 164468328 rs2231901 G T 226.19 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.244;DB;DP=27;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.464;QD=8.38;ReadPosRankSum=0.171;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FIGN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000333129 GT:AD:DP:GQ:PL 0/1:15,12:27:99:256,0,548
2 165349459 rs1051160 G A 692.81 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.49;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=GRB14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000446413 GT:AD:DP:GQ:PL 1/1:0,18:18:54.17:726,54,0
2 165349463 rs11765 T C 321.16 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=2.011;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.286;QD=14.6;ReadPosRankSum=1.615;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=GRB14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000446413 GT:AD:DP:GQ:PL 0/1:12,10:22:99:351,0,390
2 165351208 rs1451892 C T 50.63 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.32;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=GRB14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000446413 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
2 165353712 rs8192673 C T 385.68 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.66;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.303;QD=9.89;ReadPosRankSum=-0.245;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=GRB14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263915 GT:AD:DP:GQ:PL 0/1:24,15:39:99:416,0,884
2 165358655 rs7584035 T A 70.58 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.55;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.55;QD=10.08;ReadPosRankSum=-1.754;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=GRB14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263915 GT:AD:DP:GQ:PL 0/1:3,4:7:99:101,0,107
2 165358672 rs4667463 A G 291.61 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.16;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=GRB14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263915 GT:AD:DP:GQ:PL 1/1:0,10:10:27.08:325,27,0
2 165364887 rs8192674 G A 418.50 PASS AB=0.235;AC=1;AF=0.50;AN=2;BaseQRankSum=2.887;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9987;MQ=60.0;MQ0=0;MQRankSum=0.623;QD=24.62;ReadPosRankSum=-1.868;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=GRB14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469573 GT:AD:DP:GQ:PL 0/1:4,13:17:91.40:448,0,91
2 165378427 rs13015232 C A 601.87 PASS AB=0.387;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.007;DB;DP=31;Dels=0.0;FS=12.325;HRun=2;HaplotypeScore=0.0;MQ=59.25;MQ0=0;MQRankSum=1.034;QD=19.42;ReadPosRankSum=-0.831;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=GRB14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000424693 GT:AD:DP:GQ:PL 0/1:12,19:31:99:632,0,403
2 165476253 rs61748245 A T 1727.76 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.7882;MQ=59.56;MQ0=0;QD=32.6;SNPEFF_AMINO_ACID_CHANGE=F32I;SNPEFF_CODON_CHANGE=Ttt/Att;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_165476197_165476467;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=GRB14;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000424693 GT:AD:DP:GQ:PL 1/1:0,52:53:99:1761,138,0
2 165551404 rs17244632 G A 709.77 PASS AB=0.566;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.606;DB;DP=53;Dels=0.0;FS=1.078;HRun=1;HaplotypeScore=1.9765;MQ=60.0;MQ0=0;MQRankSum=1.104;QD=13.39;ReadPosRankSum=-0.96;SNPEFF_AMINO_ACID_CHANGE=T833I;SNPEFF_CODON_CHANGE=aCt/aTt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_165550779_165552346;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=COBLL1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000375458 GT:AD:DP:GQ:PL 0/1:30,23:53:99:740,0,953
2 165557318 rs6712203 C T 562.03 PASS AB=0.537;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.02;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9578;MQ=60.0;MQ0=0;MQRankSum=-0.353;QD=13.71;ReadPosRankSum=-0.144;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=COBLL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000434366 GT:AD:DP:GQ:PL 0/1:22,19:41:99:592,0,788
2 165578581 rs6414069 A G 1002.05 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.37;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=COBLL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456693 GT:AD:DP:GQ:PL 1/1:0,33:33:81.25:1035,81,0
2 165579159 rs6432802 G C 360.58 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.06;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=COBLL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000194871 GT:AD:DP:GQ:PL 1/1:0,10:10:30.09:394,30,0
2 165584407 rs12692743 C T 536.04 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.74;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=COBLL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000414843 GT:AD:DP:GQ:PL 1/1:0,15:15:42.14:569,42,0
2 165636332 rs355897 T C 292.01 PASS AB=0.567;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.319;DB;DP=30;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.23;MQ0=0;MQRankSum=0.58;QD=9.73;ReadPosRankSum=-1.416;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=COBLL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000194871 GT:AD:DP:GQ:PL 0/1:17,13:30:99:322,0,531
2 165809426 rs17353791 T C 133.19 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC38A11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303735 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:166,12,0
2 165811554 rs71902389 GA G 33.43 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=6;FS=0.0;HRun=16;HaplotypeScore=17.319;IndelType=D;MQ=56.04;MQ0=0;MQRankSum=0.736;QD=5.57;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC38A11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303735 GT:AD:DP:GQ:PL 0/1:1,5:6:7.48:72,0,7
2 166012203 rs3731760 C T 389.51 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.961;DB;DP=25;Dels=0.0;FS=2.43;HRun=0;HaplotypeScore=0.9734;MQ=59.07;MQ0=0;MQRankSum=0.465;QD=15.58;ReadPosRankSum=0.465;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN3A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283254 GT:AD:DP:GQ:PL 0/1:10,15:25:99:420,0,269
2 166152185 rs2075704 A G 210.90 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.15;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283256 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:244,18,0
2 166153499 rs7593568 A G 1034.29 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.67;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283256 GT:AD:DP:GQ:PL 1/1:0,29:29:78.25:1067,78,0
2 166167166 rs7560348 T A 105.16 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=8;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.922;QD=13.15;ReadPosRankSum=0.421;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283256 GT:AD:DP:GQ:PL 0/1:4,4:8:99:135,0,143
2 166170127 rs2121371 T C 2104.30 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.65;MQ0=0;QD=31.88;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000486878 GT:AD:DP:GQ:PL 1/1:0,66:66:99:2137,156,0
2 166172317 rs1838846 A G 2654.90 PASS AC=2;AF=1.00;AN=2;DB;DP=82;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.38;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000424833 GT:AD:DP:GQ:PL 1/1:0,82:82:99:2688,217,0
2 166179650 rs1867864 C T 421.23 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.892;DB;DP=42;Dels=0.0;FS=1.391;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.446;QD=10.03;ReadPosRankSum=1.732;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283256 GT:AD:DP:GQ:PL 0/1:27,15:42:99:451,0,816
2 166221569 rs67198220 TG T 61.17 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=1.453;DB;DP=10;FS=0.0;HRun=10;HaplotypeScore=23.6459;IndelType=D;MQ=60.0;MQ0=0;MQRankSum=2.45;QD=6.12;ReadPosRankSum=0.676;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283256 GT:AD:DP:GQ:PL 0/1:5,5:10:99:100,0,136
2 166224047 rs2304010 G A 53.83 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.94;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283256 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:85,6,0
2 166226581 rs72874371 A G 547.65 PASS AB=0.231;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.952;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.335;QD=21.06;ReadPosRankSum=-0.03;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283256 GT:AD:DP:GQ:PL 0/1:6,20:26:99:578,0,175
2 166226978 rs2304012 A G 91.07 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283256 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:123,9,0
2 166229922 rs6432821 T C 1002.53 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.33;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283256 GT:AD:DP:GQ:PL 1/1:0,32:32:84.26:1036,84,0
2 166229930 rs2304014 T A 400.14 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.811;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.022;QD=13.34;ReadPosRankSum=-0.196;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283256 GT:AD:DP:GQ:PL 0/1:15,15:30:99:430,0,499
2 166234076 rs1864885 A G 522.57 PASS AB=0.314;AC=1;AF=0.50;AN=2;BaseQRankSum=2.692;DB;DP=35;Dels=0.0;FS=1.917;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.286;QD=14.93;ReadPosRankSum=-1.356;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283256 GT:AD:DP:GQ:PL 0/1:11,24:35:99:553,0,325
2 166237497 rs7578237 T C 133.50 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283256 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:166,12,0
2 166514594 rs10803800 A G 80.59 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.231;QD=16.12;ReadPosRankSum=-0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CSRNP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000314499 GT:AD:DP:GQ:PL 0/1:2,3:5:67.41:111,0,67
2 166532660 rs777342 T C 639.63 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.97;MQ0=0;QD=27.81;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CSRNP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000314499 GT:AD:DP:GQ:PL 1/1:0,23:23:57.17:673,57,0
2 166535883 rs61738743 G C 382.33 PASS AB=0.641;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.767;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.659;QD=9.8;ReadPosRankSum=-2.035;SNPEFF_AMINO_ACID_CHANGE=V460L;SNPEFF_CODON_CHANGE=Gtc/Ctc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_166535211_166545917;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CSRNP3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000314499 GT:AD:DP:GQ:PL 0/1:25,14:39:99:412,0,850
2 166611774 rs6705649 C G 87.31 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.1;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GALNT3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000412248 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:119,9,0
2 166615555 rs4667835 C T 87.41 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.48;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GALNT3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392701 GT:AD:DP:GQ:PL 1/1:0,5:5:9.03:119,9,0
2 166621354 rs2113840 T C 1877 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=59.56;MQ0=0;QD=36.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GALNT3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392701 GT:AD:DP:GQ:PL 1/1:0,52:52:99:1910,141,0
2 166626606 rs4667836 G A 129.53 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.91;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GALNT3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000414977 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:162,12,0
2 166670948 rs68019364 C T 1261.26 PASS AB=0.596;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.39;DB;DP=109;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.76;MQ0=0;MQRankSum=0.556;QD=11.57;ReadPosRankSum=0.747;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AC009495.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408307 GT:AD:DP:GQ:PL 0/1:65,44:109:99:1291,0,1865
2 166671038 rs113668839 G GGGAA 334.85 PASS AB=0.829;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.367;DB;DP=29;FS=0.0;HRun=0;HaplotypeScore=174.4548;IndelType=I;MQ=61.07;MQ0=0;MQRankSum=3.166;QD=11.55;ReadPosRankSum=0.955;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AC009495.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408307 GT:AD:DP:GQ:PL 0/1:23,6:29:99:374,0,371
2 166671061 rs75796012 A G 298.24 PASS AB=0.381;AC=1;AF=0.50;AN=2;BaseQRankSum=2.493;DB;DP=21;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9665;MQ=59.29;MQ0=0;MQRankSum=-2.493;QD=14.2;ReadPosRankSum=-0.634;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AC009495.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408307 GT:AD:DP:GQ:PL 0/1:8,13:21:0.34:327,0,0
2 166780911 rs2163648 A G 314.49 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=1.849;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-2.034;QD=26.21;ReadPosRankSum=1.849;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=TTC21B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464374 GT:AD:DP:GQ:PL 0/1:3,9:12:86.12:344,0,86
2 166786973 rs1560597 A C 85.86 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.47;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=TTC21B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000243344 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:118,9,0
2 166788336 rs7592429 T C 885.74 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.17;MQ0=0;QD=31.63;SNPEFF_AMINO_ACID_CHANGE=T276A;SNPEFF_CODON_CHANGE=Aca/Gca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_166788268_166788366;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=TTC21B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000243344 GT:AD:DP:GQ:PL 1/1:0,28:28:66.22:919,66,0
2 166797444 rs12623658 T A 255.24 PASS AB=0.353;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.658;DB;DP=17;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.055;QD=15.01;ReadPosRankSum=0.151;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=TTC21B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000243344 GT:AD:DP:GQ:PL 0/1:6,11:17:99:285,0,200
2 166797450 rs7592392 C A 485.87 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.57;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=TTC21B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000243344 GT:AD:DP:GQ:PL 1/1:0,19:19:48.12:519,48,0
2 166797646 rs1432273 C T 1759.51 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.62;MQ0=0;QD=35.91;SNPEFF_AMINO_ACID_CHANGE=V201M;SNPEFF_CODON_CHANGE=Gtg/Atg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_166797537_166797694;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=TTC21B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000243344 GT:AD:DP:GQ:PL 1/1:0,49:49:99:1793,132,0
2 166799596 rs13000534 T C 93.72 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.24;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=TTC21B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000243344 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:126,9,0
2 166799893 rs10930190 G A 600.28 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.31;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=TTC21B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000243344 GT:AD:DP:GQ:PL 1/1:0,17:17:48.16:633,48,0
2 166801924 rs6432853 C G 345.67 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.41;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=TTC21B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000476227 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:379,27,0
2 166810373 rs1347041 A G 35.98 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=39.12;MQ0=0;QD=9.0;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=TTC21B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000243344 GT:AD:DP:GQ:PL 1/1:0,4:4:6.01:67,6,0
2 166870600 rs568376 A G 111.44 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.86;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303395 GT:AD:DP:GQ:PL 1/1:0,4:4:12.03:144,12,0
2 166871905 rs577306 C A 69.37 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.406;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.537;QD=11.56;ReadPosRankSum=0.406;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303395 GT:AD:DP:GQ:PL 0/1:3,3:6:99:99,0,107
2 166892444 rs67326210 TAAA T 296.91 PASS AB=0.639;AC=1;AF=0.50;AN=2;BaseQRankSum=3.132;DB;DP=23;FS=0.0;HRun=15;HaplotypeScore=159.3829;IndelType=D;MQ=55.86;MQ0=0;MQRankSum=-1.154;QD=12.91;ReadPosRankSum=0.363;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303395 GT:AD:DP:GQ:PL 0/1:10,12:23:99:336,0,453
2 166892788 rs2298771 C T 523.86 PASS AB=0.66;AC=1;AF=0.50;AN=2;BaseQRankSum=1.399;DB;DP=53;Dels=0.0;FS=2.623;HRun=1;HaplotypeScore=1.5678;MQ=59.56;MQ0=0;MQRankSum=-0.235;QD=9.88;ReadPosRankSum=0.197;SNPEFF_AMINO_ACID_CHANGE=A1039T;SNPEFF_CODON_CHANGE=Gca/Aca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_166892558_166893040;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN1A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000409050 GT:AD:DP:GQ:PL 0/1:35,18:53:99:554,0,1205
2 166893081 rs7601520 G A 474.55 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.638;DB;DP=25;Dels=0.0;FS=4.465;HRun=0;HaplotypeScore=0.0;MQ=59.25;MQ0=0;MQRankSum=0.028;QD=18.98;ReadPosRankSum=0.86;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303395 GT:AD:DP:GQ:PL 0/1:10,15:25:99:505,0,238
2 166894165 rs67819222 CT C 56.21 PASS AB=0.737;AC=1;AF=0.50;AN=2;BaseQRankSum=1.067;DB;DP=14;FS=0.0;HRun=9;HaplotypeScore=95.7297;IndelType=D;MQ=56.62;MQ0=0;MQRankSum=-0.4;QD=4.01;ReadPosRankSum=1.333;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303395 GT:AD:DP:GQ:PL 0/1:9,5:14:95.24:95,0,270
2 166894209 rs116647099 T C 687.24 PASS AB=0.447;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.029;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.78;MQ0=0;MQRankSum=0.44;QD=18.09;ReadPosRankSum=0.411;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303395 GT:AD:DP:GQ:PL 0/1:17,21:38:99:717,0,559
2 166894230 rs2020318 T C 703.12 PASS AB=0.564;AC=1;AF=0.50;AN=2;BaseQRankSum=3.759;DB;DP=55;Dels=0.0;FS=3.602;HRun=0;HaplotypeScore=0.0;MQ=59.58;MQ0=0;MQRankSum=0.28;QD=12.78;ReadPosRankSum=0.484;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303395 GT:AD:DP:GQ:PL 0/1:31,24:55:99:733,0,1039
2 166895761 rs1019723 A G 121.72 PASS AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=52.61;MQ0=0;MQRankSum=0.736;QD=20.29;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303395 GT:AD:DP:GQ:PL 0/1:1,5:6:21.95:152,0,22
2 166895913 rs72051642 CTTT C 209.81 PASS AB=0.632;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.678;DB;DP=36;FS=0.0;HRun=17;HaplotypeScore=274.0193;IndelType=D;MQ=56.0;MQ0=0;MQRankSum=0.215;QD=5.83;ReadPosRankSum=2.453;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303395 GT:AD:DP:GQ:PL 0/1:13,13:36:99:249,0,602
2 166896143 rs2126152 T G 316.77 PASS AB=0.542;AC=1;AF=0.50;AN=2;BaseQRankSum=1.043;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=-1.101;QD=13.2;ReadPosRankSum=0.232;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303395 GT:AD:DP:GQ:PL 0/1:13,11:24:99:347,0,425
2 166896178 rs490317 C T 108.24 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.47;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.103;QD=10.82;ReadPosRankSum=0.851;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303395 GT:AD:DP:GQ:PL 0/1:5,5:10:99:138,0,175
2 166897864 rs6432860 A G 1417.71 PASS AB=0.495;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.104;DB;DP=103;Dels=0.0;FS=13.934;HRun=0;HaplotypeScore=1.788;MQ=56.6;MQ0=0;MQRankSum=0.572;QD=13.76;ReadPosRankSum=-0.378;SNPEFF_AMINO_ACID_CHANGE=V736;SNPEFF_CODON_CHANGE=gtT/gtC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_166897741_166897979;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN1A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000409050 GT:AD:DP:GQ:PL 0/1:51,52:103:99:1448,0,1448
2 166897989 rs11394960 G GA 1062.17 PASS AB=0.824;AC=1;AF=0.50;AN=2;BaseQRankSum=0.861;DB;DP=140;FS=3.212;HRun=14;HaplotypeScore=794.264;IndelType=I;MQ=56.27;MQ0=0;MQRankSum=-0.436;QD=7.59;ReadPosRankSum=-4.645;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303395 GT:AD:DP:GQ:PL 0/1:104,26:140:99:1101,0,446
2 166900606 rs6753355 A C 223.29 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.263;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.683;QD=13.96;ReadPosRankSum=0.473;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303395 GT:AD:DP:GQ:PL 0/1:8,8:16:99:253,0,239
2 166902103 rs992894 A T 82.55 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.52;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303395 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:115,9,0
2 166903188 rs538921 A C 571.60 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.62;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303395 GT:AD:DP:GQ:PL 1/1:1,16:17:48.12:605,48,0
2 166903445 rs7580482 T C 1386.31 PASS AB=0.316;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.849;DB;DP=76;Dels=0.0;FS=4.97;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.746;QD=18.24;ReadPosRankSum=0.006;SNPEFF_AMINO_ACID_CHANGE=V404;SNPEFF_CODON_CHANGE=gtA/gtG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_166903280_166903486;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN1A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000303395 GT:AD:DP:GQ:PL 0/1:24,52:76:99:1416,0,758
2 166904346 rs1461193 G A 397.33 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.115;DB;DP=35;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.455;QD=11.35;ReadPosRankSum=-0.69;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303395 GT:AD:DP:GQ:PL 0/1:21,14:35:99:427,0,747
2 166905480 rs994399 G A 223.50 PASS AB=0.694;AC=1;AF=0.50;AN=2;BaseQRankSum=2.008;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=0.373;QD=6.21;ReadPosRankSum=-1.475;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303395 GT:AD:DP:GQ:PL 0/1:25,11:36:99:253,0,719
2 166909559 rs3812719 C A 956.02 PASS AB=0.534;AC=1;AF=0.50;AN=2;BaseQRankSum=2.216;DB;DP=73;Dels=0.0;FS=0.981;HRun=0;HaplotypeScore=1.7621;MQ=60.0;MQ0=0;MQRankSum=0.186;QD=13.1;ReadPosRankSum=0.592;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303395 GT:AD:DP:GQ:PL 0/1:39,34:73:99:986,0,1189
2 166915014 rs8191987 A G 214.33 PASS AB=0.55;AC=1;AF=0.50;AN=2;BaseQRankSum=1.14;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9332;MQ=60.0;MQ0=0;MQRankSum=0.304;QD=10.72;ReadPosRankSum=-0.456;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303395 GT:AD:DP:GQ:PL 0/1:11,9:20:99:244,0,303
2 166915335 rs10930201 C A 35.77 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.026;QD=8.94;ReadPosRankSum=1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303395 GT:AD:DP:GQ:PL 0/1:2,2:4:65.76:66,0,66
2 166929347 . C CTTT 123.49 PASS AB=0.8;AC=1;AF=0.50;AN=2;BaseQRankSum=0.185;DP=24;FS=0.0;HRun=20;HaplotypeScore=241.282;IndelType=I;MQ=49.42;MQ0=0;MQRankSum=0.925;QD=5.15;ReadPosRankSum=-2.589;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303395 GT:AD:DP:GQ:PL 0/1:15,6:24:25.33:163,0,25
2 166930214 rs566839 T A 761.63 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.89;MQ0=0;QD=36.27;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303395 GT:AD:DP:GQ:PL 1/1:0,21:21:57.19:795,57,0
2 167060449 rs10180721 A T 770.27 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.49;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN9A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303354 GT:AD:DP:GQ:PL 1/1:0,23:23:60.20:803,60,0
2 167060980 rs77944059 GAAAC G 3610 PASS AC=2;AF=1.00;AN=2;DB;DP=79;FS=0.0;HRun=0;HaplotypeScore=400.4085;IndelType=D;MQ=57.96;MQ0=0;QD=45.7;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN9A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303354 GT:AD:DP:GQ:PL 1/1:11,68:79:99:3610,205,0
2 167082978 rs7595255 T C 195.93 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.49;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN9A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303354 GT:AD:DP:GQ:PL 1/1:0,8:8:18.05:229,18,0
2 167084429 rs3793936 C T 51.22 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.61;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN9A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303354 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
2 167085079 rs68017887 GTT G 1139.89 PASS AC=2;AF=1.00;AN=2;DB;DP=28;FS=0.0;HRun=4;HaplotypeScore=285.2433;IndelType=D;MQ=47.12;MQ0=0;QD=40.71;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN9A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303354 GT:AD:DP:GQ:PL 1/1:5,23:28:84.27:1182,84,0
2 167085124 rs10199799 T G 2436.74 PASS AC=2;AF=1.00;AN=2;DB;DP=69;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=50.99;MQ0=0;QD=35.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN9A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303354 GT:AD:DP:GQ:PL 1/1:0,69:69:99:2470,199,0
2 167085141 rs58519838 CTT C 4954.54 PASS AC=2;AF=1.00;AN=2;DB;DP=102;FS=0.0;HRun=2;HaplotypeScore=704.921;IndelType=D;MQ=53.42;MQ0=0;QD=48.57;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN9A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303354 GT:AD:DP:GQ:PL 1/1:3,99:102:99:4955,307,0
2 167089713 . A ATATG 698.94 PASS AC=2;AF=1.00;AN=2;DP=10;FS=0.0;HRun=0;HaplotypeScore=35.0418;IndelType=I;MQ=58.11;MQ0=0;QD=69.89;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN9A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303354 GT:AD:DP:GQ:PL 1/1:0,9:10:30.10:741,30,0
2 167090042 rs722204 G A 811.90 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.9;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN9A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303354 GT:AD:DP:GQ:PL 1/1:0,22:22:63.21:845,63,0
2 167099158 rs6746030 A G 2661.86 PASS AC=2;AF=1.00;AN=2;DB;DP=74;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.6543;MQ=59.12;MQ0=0;QD=35.97;SNPEFF_AMINO_ACID_CHANGE=W1150R;SNPEFF_CODON_CHANGE=Tgg/Cgg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_167099012_167099166;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN9A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000409672 GT:AD:DP:GQ:PL 1/1:0,74:74:99:2695,202,0
2 167137120 rs4525717 C T 634.85 PASS AB=0.56;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.313;DB;DP=50;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.772;QD=12.7;ReadPosRankSum=-1.163;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN9A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000452182 GT:AD:DP:GQ:PL 0/1:28,22:50:99:665,0,978
2 167149693 rs7588632 G A 282.19 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.241;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.375;QD=11.76;ReadPosRankSum=0.664;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN9A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303354 GT:AD:DP:GQ:PL 0/1:12,12:24:99:312,0,397
2 167159946 rs13017637 C T 55.47 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.406;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.988;QD=9.25;ReadPosRankSum=-0.406;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN9A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303354 GT:AD:DP:GQ:PL 0/1:3,3:6:85.47:85,0,105
2 167160029 rs12994338 T C 31.82 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=15.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN9A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303354 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:63,6,0
2 167162277 rs4429487 G A 1714.53 PASS AB=0.549;AC=1;AF=0.50;AN=2;BaseQRankSum=4.513;DB;DP=134;Dels=0.0;FS=0.709;HRun=0;HaplotypeScore=5.3459;MQ=59.48;MQ0=0;MQRankSum=-1.817;QD=12.79;ReadPosRankSum=0.513;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN9A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303354 GT:AD:DP:GQ:PL 0/1:73,60:134:99:1745,0,2081
2 167163043 rs9646771 T C 408.54 PASS AB=0.679;AC=1;AF=0.50;AN=2;BaseQRankSum=0.61;DB;DP=56;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=59.67;MQ0=0;MQRankSum=0.902;QD=7.3;ReadPosRankSum=-0.319;SNPEFF_AMINO_ACID_CHANGE=P13;SNPEFF_CODON_CHANGE=ccA/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_167163020_167163081;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN9A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000452182 GT:AD:DP:GQ:PL 0/1:38,18:56:99:439,0,1089
2 167163663 rs4447616 C T 259.10 PASS AB=0.524;AC=1;AF=0.50;AN=2;BaseQRankSum=1.373;DB;DP=21;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.035;QD=12.34;ReadPosRankSum=1.796;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN9A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303354 GT:AD:DP:GQ:PL 0/1:11,10:21:99:289,0,390
2 167167892 rs6432899 T A 34 PASS AB=0.692;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.077;DB;DP=13;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.231;QD=2.62;ReadPosRankSum=-0.077;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN9A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303354 GT:AD:DP:GQ:PL 0/1:9,4:13:63.99:64,0,332
2 167167917 rs6432900 T C 222.46 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=0.817;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=-0.107;QD=10.59;ReadPosRankSum=-1.599;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN9A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303354 GT:AD:DP:GQ:PL 0/1:12,9:21:99:252,0,420
2 167168093 rs6432901 C T 2156.35 PASS AB=0.564;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.766;DB;DP=163;Dels=0.0;FS=2.81;HRun=1;HaplotypeScore=4.5537;MQ=59.89;MQ0=0;MQRankSum=0.765;QD=13.23;ReadPosRankSum=0.008;SNPEFF_AMINO_ACID_CHANGE=Q58;SNPEFF_CODON_CHANGE=caG/caA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_167168009_167168316;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN9A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000303354 GT:AD:DP:GQ:PL 0/1:92,71:163:99:2186,0,2992
2 167266465 . G A 876.65 PASS AB=0.529;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.164;DP=68;Dels=0.0;FS=0.977;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.051;QD=12.89;ReadPosRankSum=-1.173;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN7A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259060 GT:AD:DP:GQ:PL 0/1:36,32:68:99:907,0,1143
2 167273037 rs10930221 C G 74.77 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.727;QD=18.69;ReadPosRankSum=-0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN7A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259060 GT:AD:DP:GQ:PL 0/1:1,3:4:30.19:105,0,30
2 167279922 rs6738031 C A 1670.73 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.1;SNPEFF_AMINO_ACID_CHANGE=M958I;SNPEFF_CODON_CHANGE=atG/atT;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_167279769_167279942;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN7A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000259060 GT:AD:DP:GQ:PL 1/1:0,49:49:99:1704,129,0
2 167284520 rs3748895 T C 493.87 PASS AB=0.568;AC=1;AF=0.50;AN=2;BaseQRankSum=0.64;DB;DP=44;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.687;QD=11.22;ReadPosRankSum=0.071;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN7A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000419992 GT:AD:DP:GQ:PL 0/1:25,19:44:99:524,0,811
2 167300262 rs66554856 GAC G 168.50 PASS AB=0.727;AC=1;AF=0.50;AN=2;BaseQRankSum=2.843;DB;DP=16;FS=0.0;HRun=0;HaplotypeScore=50.2943;IndelType=D;MQ=58.55;MQ0=0;MQRankSum=-0.869;QD=10.53;ReadPosRankSum=-0.259;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN7A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259060 GT:AD:DP:GQ:PL 0/1:10,6:16:99:208,0,280
2 167313451 rs11888208 T C 653.06 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.257;DB;DP=56;Dels=0.0;FS=1.098;HRun=0;HaplotypeScore=1.4679;MQ=57.99;MQ0=0;MQRankSum=0.935;QD=11.66;ReadPosRankSum=0.24;SNPEFF_AMINO_ACID_CHANGE=I407V;SNPEFF_CODON_CHANGE=Ata/Gta;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_167313380_167313586;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN7A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000259060 GT:AD:DP:GQ:PL 0/1:32,24:56:99:683,0,859
2 167322522 rs7593452 G A 597.85 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.318;DB;DP=27;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.129;QD=22.14;ReadPosRankSum=1.466;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN7A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259060 GT:AD:DP:GQ:PL 0/1:9,18:27:99:628,0,302
2 167327064 rs12992062 A G 227.23 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.475;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=0.386;QD=16.23;ReadPosRankSum=1.468;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN7A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259060 GT:AD:DP:GQ:PL 0/1:6,8:14:99:257,0,215
2 167328750 rs2293567 C T 1326.16 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.38;MQ0=0;QD=35.84;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN7A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259060 GT:AD:DP:GQ:PL 1/1:0,36:37:99:1359,105,0
2 167328754 rs36063236 C T 458.31 PASS AB=0.595;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.655;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=59.39;MQ0=0;MQRankSum=-0.139;QD=12.06;ReadPosRankSum=-1.129;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN7A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259060 GT:AD:DP:GQ:PL 0/1:22,15:38:99:488,0,788
2 167333840 rs16852172 G A 78.65 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.72;QD=13.11;ReadPosRankSum=-1.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN7A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259060 GT:AD:DP:GQ:PL 0/1:2,4:6:61.32:109,0,61
2 167334085 rs7565062 G T 1545.29 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.79;SNPEFF_AMINO_ACID_CHANGE=T41N;SNPEFF_CODON_CHANGE=aCt/aAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_167333973_167334220;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN7A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000259060 GT:AD:DP:GQ:PL 1/1:0,42:42:99:1578,117,0
2 167334234 rs16852181 T C 630.79 PASS AB=0.574;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.286;DB;DP=54;Dels=0.0;FS=6.166;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.455;QD=11.68;ReadPosRankSum=-2.099;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN7A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259060 GT:AD:DP:GQ:PL 0/1:31,23:54:99:661,0,1023
2 167759948 rs7599152 C T 432.30 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=0.209;DB;DP=28;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.5784;MQ=59.17;MQ0=0;MQRankSum=-0.766;QD=15.44;ReadPosRankSum=-1.509;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XIRP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409043 GT:AD:DP:GQ:PL 0/1:12,16:28:99:462,0,420
2 167760451 rs5836125 AG A 288.34 PASS AB=0.711;AC=1;AF=0.50;AN=2;BaseQRankSum=2.946;DB;DP=27;FS=3.132;HRun=1;HaplotypeScore=115.4201;IndelType=D;MQ=59.5;MQ0=0;MQRankSum=0.899;QD=10.68;ReadPosRankSum=-0.403;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XIRP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295237 GT:AD:DP:GQ:PL 0/1:16,11:27:99:327,0,555
2 168572093 rs10168562 G T 1665.14 PASS AB=0.582;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.032;DB;DP=153;Dels=0.0;FS=3.165;HRun=1;HaplotypeScore=1.9248;MQ=59.5;MQ0=0;MQRankSum=-0.979;QD=10.88;ReadPosRankSum=-0.255;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=CTAGE14P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397819 GT:AD:DP:GQ:PL 0/1:89,64:153:99:1695,0,2899
2 168572098 rs10192010 A G 1780.37 PASS AB=0.588;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.685;DB;DP=153;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9248;MQ=59.5;MQ0=0;MQRankSum=0.284;QD=11.64;ReadPosRankSum=0.135;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=CTAGE14P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397819 GT:AD:DP:GQ:PL 0/1:90,63:153:99:1810,0,2962
2 168572438 rs4667969 G A 2643.68 PASS AC=2;AF=1.00;AN=2;DB;DP=80;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=46.95;MQ0=2;QD=33.05;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=CTAGE14P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397819 GT:AD:DP:GQ:PL 1/1:0,80:80:99:2677,211,0
2 168726659 rs12466817 A C 53.22 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.61;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=B3GALT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000305861 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
2 168931610 rs3739115 G A 1033.08 PASS AB=0.547;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.663;DB;DP=75;Dels=0.0;FS=8.828;HRun=0;HaplotypeScore=1.7465;MQ=59.44;MQ0=0;MQRankSum=0.005;QD=13.77;ReadPosRankSum=-0.765;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=STK39;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355999 GT:AD:DP:GQ:PL 0/1:41,34:75:99:1063,0,1288
2 168985875 rs12618884 A G 49.99 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=49.84;MQ0=0;QD=25.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=STK39;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355999 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
2 168986154 rs925846 A G 2437.27 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.08;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=STK39;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355999 GT:AD:DP:GQ:PL 1/1:0,64:64:99:2470,178,0
2 168986376 rs2246258 T G 726.15 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.22;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=STK39;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355999 GT:AD:DP:GQ:PL 1/1:0,19:19:57.17:759,57,0
2 169020404 . C G 273.24 PASS AB=0.679;AC=1;AF=0.50;AN=2;BaseQRankSum=1.279;DP=28;Dels=0.0;FS=4.301;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=9.76;ReadPosRankSum=0.394;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=STK39;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355999 GT:AD:DP:GQ:PL 0/1:19,9:28:99:303,0,631
2 169487610 rs67474503 GT G 1133.03 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.577;DB;DP=66;FS=0.0;HRun=11;HaplotypeScore=260.6733;IndelType=D;MQ=59.78;MQ0=0;MQRankSum=0.102;QD=17.17;ReadPosRankSum=-0.51;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CERS6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000305747 GT:AD:DP:GQ:PL 1/1:15,50:66:99:1175,120,0
2 169487668 rs4667585 A C 898.63 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.14;MQ0=0;QD=32.09;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CERS6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000305747 GT:AD:DP:GQ:PL 1/1:0,28:28:69.23:932,69,0
2 169681278 rs11374385 T TTTTGTTTG 541.70 PASS AB=0.821;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.067;DB;DP=23;FS=0.0;HRun=0;HaplotypeScore=135.6499;IndelType=I;MQ=54.77;MQ0=0;MQRankSum=-3.067;QD=23.55;ReadPosRankSum=2.133;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOSTRIN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317647 GT:AD:DP:GQ:PL 0/1:18,5:23:99:581,0,567
2 169699350 rs518337 G A 101.66 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=1.881;DB;DP=9;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=11.3;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOSTRIN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317647 GT:AD:DP:GQ:PL 0/1:4,5:9:99:132,0,134
2 169707428 rs540652 C T 1504.25 PASS AB=0.463;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.183;DB;DP=96;Dels=0.0;FS=3.862;HRun=0;HaplotypeScore=1.6208;MQ=59.28;MQ0=0;MQRankSum=-0.72;QD=15.67;ReadPosRankSum=-1.474;SNPEFF_AMINO_ACID_CHANGE=T238I;SNPEFF_CODON_CHANGE=aCa/aTa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_169707346_169707516;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOSTRIN;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000444448 GT:AD:DP:GQ:PL 0/1:44,51:96:99:1534,0,1314
2 169707552 rs488621 A G 1307.52 PASS AB=0.506;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.957;DB;DP=87;Dels=0.0;FS=3.153;HRun=0;HaplotypeScore=1.7876;MQ=59.74;MQ0=0;MQRankSum=-0.913;QD=15.03;ReadPosRankSum=0.964;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOSTRIN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317647 GT:AD:DP:GQ:PL 0/1:44,43:87:99:1338,0,1465
2 169717179 rs72091244 T TA 101.07 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.186;DB;DP=14;FS=0.0;HRun=12;HaplotypeScore=114.7772;IndelType=I;MQ=53.38;MQ0=0;MQRankSum=1.932;QD=7.22;ReadPosRankSum=-1.031;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOSTRIN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317647 GT:AD:DP:GQ:PL 0/1:7,5:14:51.95:140,0,52
2 169717541 rs2632372 T C 226.22 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.308;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.813;QD=14.14;ReadPosRankSum=0.597;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOSTRIN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000495202 GT:AD:DP:GQ:PL 0/1:6,10:16:99:256,0,203
2 169717624 rs2685800 C T 70.52 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=14.1;ReadPosRankSum=-1.231;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOSTRIN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000495202 GT:AD:DP:GQ:PL 0/1:2,3:5:70.60:101,0,71
2 169721377 rs479661 G A 629.29 PASS AB=0.476;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.69;DB;DP=42;Dels=0.0;FS=4.741;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.516;QD=14.98;ReadPosRankSum=-1.725;SNPEFF_AMINO_ACID_CHANGE=G395E;SNPEFF_CODON_CHANGE=gGa/gAa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_169721344_169721480;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOSTRIN;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000397206 GT:AD:DP:GQ:PL 0/1:20,22:42:99:659,0,650
2 169727879 rs11420514 G GA 504.30 PASS AB=0.673;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.129;DB;DP=37;FS=0.0;HRun=7;HaplotypeScore=85.6248;IndelType=I;MQ=58.76;MQ0=0;MQRankSum=0.111;QD=13.63;ReadPosRankSum=-0.395;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SPC25;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479309 GT:AD:DP:GQ:PL 0/1:19,18:37:99:543,0,413
2 169728069 rs112677478 GAAA G 970.09 PASS AB=0.696;AC=1;AF=0.50;AN=2;BaseQRankSum=1.127;DB;DP=96;FS=0.977;HRun=14;HaplotypeScore=528.5657;IndelType=D;MQ=57.16;MQ0=0;MQRankSum=1.718;QD=10.11;ReadPosRankSum=2.218;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SPC25;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282074 GT:AD:DP:GQ:PL 0/1:53,37:96:99:1009,0,1742
2 169763148 rs560887 T C 4244.21 PASS AC=2;AF=1.00;AN=2;DB;DP=118;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.5981;MQ=59.8;MQ0=0;QD=35.97;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=G6PC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375363 GT:AD:DP:GQ:PL 1/1:0,118:118:99:4244,319,0
2 169763804 rs3821117 T C 40.05 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=47.12;MQ0=0;QD=20.03;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=G6PC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375363 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:71,6,0
2 169764176 rs492594 G C 2579.26 PASS AC=2;AF=1.00;AN=2;DB;DP=74;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;QD=34.85;SNPEFF_AMINO_ACID_CHANGE=V219L;SNPEFF_CODON_CHANGE=Gtt/Ctt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_169764078_169764643;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=G6PC2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000375363 GT:AD:DP:GQ:PL 1/1:0,74:74:99:2612,193,0
2 169764546 rs2232328 C G 1208.57 PASS AB=0.591;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.971;DB;DP=93;Dels=0.0;FS=1.752;HRun=0;HaplotypeScore=1.893;MQ=59.75;MQ0=0;MQRankSum=-0.504;QD=13.0;ReadPosRankSum=-0.892;SNPEFF_AMINO_ACID_CHANGE=S342C;SNPEFF_CODON_CHANGE=tCt/tGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_169764078_169764643;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=G6PC2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000375363 GT:AD:DP:GQ:PL 0/1:55,38:93:99:1239,0,1822
2 169780366 rs579275 T C 364.90 PASS AB=0.464;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.441;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=-0.507;QD=13.03;ReadPosRankSum=1.981;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCB11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263817 GT:AD:DP:GQ:PL 0/1:13,15:28:99:395,0,420
2 169780961 rs519035 T C 47.34 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.67;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCB11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263817 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
2 169789016 rs497692 T C 1138.42 PASS AB=0.548;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.202;DB;DP=104;Dels=0.0;FS=6.829;HRun=0;HaplotypeScore=0.734;MQ=59.26;MQ0=0;MQRankSum=0.62;QD=10.95;ReadPosRankSum=-0.925;SNPEFF_AMINO_ACID_CHANGE=A1028;SNPEFF_CODON_CHANGE=gcA/gcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_169788887_169789043;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCB11;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000263817 GT:AD:DP:GQ:PL 0/1:57,47:104:99:1168,0,1748
2 169791438 rs552976 A G 95.58 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.9;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCB11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263817 GT:AD:DP:GQ:PL 1/1:0,4:4:12.03:128,12,0
2 169792171 rs3755157 C T 73.26 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.537;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.537;QD=12.21;ReadPosRankSum=0.406;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCB11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263817 GT:AD:DP:GQ:PL 0/1:3,3:6:80.85:103,0,81
2 169792188 rs3755158 C G 34.26 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=8.57;ReadPosRankSum=1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCB11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263817 GT:AD:DP:GQ:PL 0/1:2,2:4:64.25:64,0,72
2 169801488 rs853789 A G 650.23 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;QD=36.12;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCB11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263817 GT:AD:DP:GQ:PL 1/1:0,18:18:51.17:683,51,0
2 169801628 rs860510 A C 38.88 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=12.96;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCB11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263817 GT:AD:DP:GQ:PL 0/1:1,2:3:32.20:69,0,32
2 169814347 rs853773 A G 427.06 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.5;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCB11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263817 GT:AD:DP:GQ:PL 1/1:0,14:14:39.12:460,39,0
2 169814655 rs853772 G T 1306.75 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.096;DB;DP=98;Dels=0.0;FS=2.853;HRun=2;HaplotypeScore=1.5362;MQ=60.0;MQ0=0;MQRankSum=-0.393;QD=13.33;ReadPosRankSum=0.047;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCB11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263817 GT:AD:DP:GQ:PL 0/1:49,49:98:99:1337,0,1485
2 169820618 rs4148796 A G 235.75 PASS AB=0.351;AC=1;AF=0.50;AN=2;BaseQRankSum=2.55;DB;DP=57;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.27;MQ0=0;MQRankSum=0.66;QD=4.14;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCB11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263817 GT:AD:DP:GQ:PL 0/1:20,37:57:99:266,0,673
2 169820619 rs4148795 T C 253.88 PASS AB=0.351;AC=1;AF=0.50;AN=2;BaseQRankSum=2.048;DB;DP=57;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.27;MQ0=0;MQRankSum=1.079;QD=4.45;ReadPosRankSum=0.644;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCB11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263817 GT:AD:DP:GQ:PL 0/1:20,37:57:99:284,0,723
2 169826877 rs2193831 C T 43.44 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=14.48;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCB11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263817 GT:AD:DP:GQ:PL 0/1:1,2:3:27.95:73,0,28
2 169828277 rs2241341 G A 681.19 PASS AB=0.477;AC=1;AF=0.50;AN=2;BaseQRankSum=2.471;DB;DP=44;Dels=0.0;FS=2.292;HRun=2;HaplotypeScore=0.9983;MQ=58.95;MQ0=0;MQRankSum=-1.132;QD=15.48;ReadPosRankSum=0.207;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCB11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263817 GT:AD:DP:GQ:PL 0/1:21,23:44:99:711,0,612
2 169828325 rs2241340 A G 1309.72 PASS AB=0.464;AC=1;AF=0.50;AN=2;BaseQRankSum=1.592;DB;DP=84;Dels=0.0;FS=3.282;HRun=1;HaplotypeScore=0.9983;MQ=58.05;MQ0=0;MQRankSum=0.033;QD=15.59;ReadPosRankSum=-0.385;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCB11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263817 GT:AD:DP:GQ:PL 0/1:39,45:84:99:1340,0,1054
2 169830051 rs2389605 C T 163.17 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.194;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=-0.71;QD=11.65;ReadPosRankSum=0.194;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCB11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263817 GT:AD:DP:GQ:PL 0/1:8,6:14:99:193,0,289
2 169830155 rs2287623 G A 1688.68 PASS AB=0.459;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.49;DB;DP=98;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9999;MQ=59.76;MQ0=0;MQRankSum=1.233;QD=17.23;ReadPosRankSum=-1.747;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCB11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263817 GT:AD:DP:GQ:PL 0/1:45,53:98:99:1719,0,1496
2 169830328 rs2287622 A G 1680.50 PASS AB=0.43;AC=1;AF=0.50;AN=2;BaseQRankSum=2.534;DB;DP=100;Dels=0.0;FS=0.881;HRun=1;HaplotypeScore=1.9891;MQ=60.0;MQ0=0;MQRankSum=-0.508;QD=16.8;ReadPosRankSum=0.209;SNPEFF_AMINO_ACID_CHANGE=V444A;SNPEFF_CODON_CHANGE=gTc/gCc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_169830225_169830350;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCB11;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000263817 GT:AD:DP:GQ:PL 0/1:43,57:100:99:1710,0,1303
2 169830515 rs2287621 G A 81.85 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.28;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCB11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263817 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:114,9,0
2 169842809 rs2287618 T C 1077.23 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.137;DB;DP=96;Dels=0.0;FS=8.922;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.602;QD=11.22;ReadPosRankSum=-0.225;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCB11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263817 GT:AD:DP:GQ:PL 0/1:54,42:96:99:1107,0,1503
2 169997051 rs990626 G A 221.51 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=0.896;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.29;MQ0=0;MQRankSum=0.597;QD=20.14;ReadPosRankSum=0.278;SNPEFF_AMINO_ACID_CHANGE=I4371;SNPEFF_CODON_CHANGE=atC/atT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_169996965_169997055;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000263816 GT:AD:DP:GQ:PL 0/1:4,7:11:99:252,0,123
2 170003508 rs41268687 G A 73.10 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=0.322;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.322;QD=9.14;ReadPosRankSum=0.322;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263816 GT:AD:DP:GQ:PL 0/1:5,3:8:99:103,0,147
2 170007683 rs17848195 G A 82.41 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=1.599;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.825;QD=6.87;ReadPosRankSum=-0.536;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263816 GT:AD:DP:GQ:PL 0/1:8,4:12:99:112,0,287
2 170010985 rs2075252 T C 665.93 PASS AB=0.46;AC=1;AF=0.50;AN=2;BaseQRankSum=0.475;DB;DP=50;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9789;MQ=60.0;MQ0=0;MQRankSum=0.33;QD=13.32;ReadPosRankSum=0.124;SNPEFF_AMINO_ACID_CHANGE=K4094E;SNPEFF_CODON_CHANGE=Aag/Gag;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_170010970_170011113;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000263816 GT:AD:DP:GQ:PL 0/1:23,27:50:99:696,0,750
2 170019207 rs115587365 A G 150.11 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=0.684;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.322;QD=18.76;ReadPosRankSum=-0.684;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263816 GT:AD:DP:GQ:PL 0/1:3,5:8:97.64:180,0,98
2 170025340 rs2239602 C T 53.30 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.65;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263816 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:85,6,0
2 170050472 rs2075248 T C 484.35 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.6;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263816 GT:AD:DP:GQ:PL 1/1:0,14:14:39.11:517,39,0
2 170053580 rs2302696 C T 332.85 PASS AB=0.368;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.211;DB;DP=19;Dels=0.0;FS=2.199;HRun=0;HaplotypeScore=1.4942;MQ=60.0;MQ0=0;MQRankSum=-1.056;QD=17.52;ReadPosRankSum=-0.127;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263816 GT:AD:DP:GQ:PL 0/1:7,12:19:99:363,0,155
2 170055255 rs16823023 T C 301.21 PASS AB=0.567;AC=1;AF=0.50;AN=2;BaseQRankSum=0.251;DB;DP=30;Dels=0.0;FS=1.497;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.795;QD=10.04;ReadPosRankSum=-0.251;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263816 GT:AD:DP:GQ:PL 0/1:17,13:30:99:331,0,520
2 170058538 rs115363091 A G 93.66 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.22;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263816 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:126,9,0
2 170059190 rs2239599 T C 360.91 PASS AB=0.381;AC=1;AF=0.50;AN=2;BaseQRankSum=0.181;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=-0.471;QD=17.19;ReadPosRankSum=-0.76;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263816 GT:AD:DP:GQ:PL 0/1:8,13:21:99:391,0,275
2 170062201 rs71936282 T TA 81.97 PASS AB=0.733;AC=1;AF=0.50;AN=2;BaseQRankSum=0.201;DB;DP=22;FS=0.0;HRun=14;HaplotypeScore=149.0784;IndelType=I;MQ=58.38;MQ0=0;MQRankSum=-0.201;QD=3.73;ReadPosRankSum=-0.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263816 GT:AD:DP:GQ:PL 0/1:13,7:22:68.09:121,0,68
2 170070539 rs2302695 G C 38.66 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=12.89;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263816 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:70,6,0
2 170082013 rs2075246 A G 554.59 PASS AB=0.553;AC=1;AF=0.50;AN=2;BaseQRankSum=3.512;DB;DP=47;Dels=0.0;FS=1.453;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.695;QD=11.8;ReadPosRankSum=-1.85;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263816 GT:AD:DP:GQ:PL 0/1:26,21:47:99:585,0,833
2 170082773 rs13383183 C A 100.52 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=0.633;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=9.14;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263816 GT:AD:DP:GQ:PL 0/1:6,5:11:99:131,0,218
2 170082776 rs35836996 A T 101.85 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=0.741;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.036;QD=9.26;ReadPosRankSum=0.365;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263816 GT:AD:DP:GQ:PL 0/1:6,5:11:99:132,0,211
2 170083248 rs112160178 C A 51.22 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.61;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263816 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
2 170088046 rs4668128 G A 244.48 PASS AB=0.412;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.634;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.146;QD=14.38;ReadPosRankSum=0.537;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263816 GT:AD:DP:GQ:PL 0/1:7,10:17:99:274,0,241
2 170088351 rs2302694 G A 169.25 PASS AB=0.771;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.727;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.727;QD=4.84;ReadPosRankSum=-0.923;SNPEFF_AMINO_ACID_CHANGE=S1700;SNPEFF_CODON_CHANGE=tcC/tcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_170088224_170088352;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000263816 GT:AD:DP:GQ:PL 0/1:27,8:35:99:199,0,860
2 170088477 rs2302693 T C 36.55 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=7.31;ReadPosRankSum=-0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263816 GT:AD:DP:GQ:PL 0/1:3,2:5:66.54:67,0,70
2 170089824 rs2239596 T C 112.13 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=2.533;DB;DP=14;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.6;QD=8.01;ReadPosRankSum=1.333;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263816 GT:AD:DP:GQ:PL 0/1:9,5:14:99:142,0,324
2 170090139 rs78750385 C G 432.21 PASS AB=0.517;AC=1;AF=0.50;AN=2;BaseQRankSum=2.073;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.157;QD=14.9;ReadPosRankSum=-0.938;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263816 GT:AD:DP:GQ:PL 0/1:15,14:29:99:462,0,462
2 170092395 rs2229267 A G 448.21 PASS AB=0.438;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.973;DB;DP=32;Dels=0.0;FS=11.748;HRun=0;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=-0.139;QD=14.01;ReadPosRankSum=-0.853;SNPEFF_AMINO_ACID_CHANGE=C1625;SNPEFF_CODON_CHANGE=tgT/tgC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_170092350_170092578;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000263816 GT:AD:DP:GQ:PL 0/1:14,18:32:99:478,0,467
2 170096095 rs34915742 C G 624.94 PASS AB=0.564;AC=1;AF=0.50;AN=2;BaseQRankSum=0.721;DB;DP=55;Dels=0.0;FS=2.277;HRun=0;HaplotypeScore=1.7334;MQ=59.58;MQ0=0;MQRankSum=-0.195;QD=11.36;ReadPosRankSum=0.127;SNPEFF_AMINO_ACID_CHANGE=R1412;SNPEFF_CODON_CHANGE=cgG/cgC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_170096037_170096285;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000263816 GT:AD:DP:GQ:PL 0/1:31,24:55:99:655,0,947
2 170096291 rs76714416 A G 445.17 PASS AB=0.514;AC=1;AF=0.50;AN=2;BaseQRankSum=0.349;DB;DP=37;Dels=0.0;FS=1.463;HRun=0;HaplotypeScore=0.9734;MQ=59.38;MQ0=0;MQRankSum=1.443;QD=12.03;ReadPosRankSum=-0.198;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443831 GT:AD:DP:GQ:PL 0/1:19,18:37:99:475,0,530
2 170097930 rs116483740 T C 351.54 PASS AB=0.543;AC=1;AF=0.50;AN=2;BaseQRankSum=2.312;DB;DP=35;Dels=0.0;FS=3.153;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.099;QD=10.04;ReadPosRankSum=-0.771;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263816 GT:AD:DP:GQ:PL 0/1:19,16:35:99:382,0,532
2 170099400 rs74705514 A C 404.06 PASS AB=0.694;AC=1;AF=0.50;AN=2;BaseQRankSum=0.702;DB;DP=62;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.25;MQ0=0;MQRankSum=-0.076;QD=6.52;ReadPosRankSum=-1.115;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263816 GT:AD:DP:GQ:PL 0/1:43,19:62:99:434,0,1486
2 170099446 rs831041 T G 839.34 PASS AB=0.649;AC=1;AF=0.50;AN=2;BaseQRankSum=3.018;DB;DP=94;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=4.1266;MQ=59.75;MQ0=0;MQRankSum=0.531;QD=8.93;ReadPosRankSum=0.261;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263816 GT:AD:DP:GQ:PL 0/1:61,33:94:99:869,0,1918
2 170099895 rs2075255 A C 477.53 PASS AB=0.535;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.864;DB;DP=43;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=0.353;QD=11.11;ReadPosRankSum=0.597;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263816 GT:AD:DP:GQ:PL 0/1:23,20:43:99:508,0,650
2 170099899 rs2075254 G A 504.31 PASS AB=0.568;AC=1;AF=0.50;AN=2;BaseQRankSum=3.293;DB;DP=44;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=-0.071;QD=11.46;ReadPosRankSum=1.351;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263816 GT:AD:DP:GQ:PL 0/1:25,19:44:99:534,0,696
2 170100011 rs150552608 G A 695.24 PASS AB=0.525;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.25;DB;DP=59;Dels=0.0;FS=1.033;HRun=1;HaplotypeScore=0.0;MQ=59.68;MQ0=0;MQRankSum=-0.767;QD=11.78;ReadPosRankSum=-0.858;SNPEFF_AMINO_ACID_CHANGE=P1014L;SNPEFF_CODON_CHANGE=cCt/cTt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_170099913_170100032;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000443831 GT:AD:DP:GQ:PL 0/1:31,28:59:99:725,0,1064
2 170101156 rs116792402 T A 746.70 PASS AB=0.432;AC=1;AF=0.50;AN=2;BaseQRankSum=1.611;DB;DP=44;Dels=0.0;FS=1.407;HRun=0;HaplotypeScore=0.0;MQ=58.95;MQ0=0;MQRankSum=0.142;QD=16.97;ReadPosRankSum=-0.166;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263816 GT:AD:DP:GQ:PL 0/1:19,25:44:99:777,0,600
2 170102994 rs114779248 A T 59.28 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.684;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.221;QD=7.41;ReadPosRankSum=-0.322;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263816 GT:AD:DP:GQ:PL 0/1:5,3:8:89.27:89,0,186
2 170103336 rs831043 T C 769.14 PASS AB=0.516;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.003;DB;DP=62;Dels=0.0;FS=1.219;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.267;QD=12.41;ReadPosRankSum=0.353;SNPEFF_AMINO_ACID_CHANGE=T1023;SNPEFF_CODON_CHANGE=acA/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_170103215_170103496;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000263816 GT:AD:DP:GQ:PL 0/1:32,30:62:99:799,0,1052
2 170113396 rs830960 C T 139.29 PASS AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=23.21;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263816 GT:AD:DP:GQ:PL 0/1:1,5:6:21.95:169,0,22
2 170115382 rs144193618 T C 51.66 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=2.166;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.731;QD=4.7;ReadPosRankSum=0.296;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263816 GT:AD:DP:GQ:PL 0/1:7,4:11:81.66:82,0,259
2 170115588 rs2241190 T C 993.53 PASS AB=0.565;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.639;DB;DP=92;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.8653;MQ=59.75;MQ0=0;MQRankSum=-0.658;QD=10.8;ReadPosRankSum=-1.63;SNPEFF_AMINO_ACID_CHANGE=T683;SNPEFF_CODON_CHANGE=acA/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_170115535_170115727;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000443831 GT:AD:DP:GQ:PL 0/1:52,40:92:99:1024,0,1770
2 170129528 rs830994 G A 1936.22 PASS AB=0.507;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.961;DB;DP=134;DS;Dels=0.0;FS=0.96;HRun=1;HaplotypeScore=6.2417;MQ=59.45;MQ0=0;MQRankSum=0.532;QD=14.45;ReadPosRankSum=-0.3;SNPEFF_AMINO_ACID_CHANGE=V606;SNPEFF_CODON_CHANGE=gtC/gtT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_170129437_170129577;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000443831 GT:AD:DP:GQ:PL 0/1:68,66:134:99:1966,0,2411
2 170129636 rs830995 A G 1159.08 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.3;MQ0=0;QD=35.12;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263816 GT:AD:DP:GQ:PL 1/1:0,33:33:90.26:1192,90,0
2 170134191 rs831003 G C 950.89 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;QD=36.57;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263816 GT:AD:DP:GQ:PL 1/1:0,26:26:72.24:984,72,0
2 170136180 rs12991585 A C 117.56 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=19.59;ReadPosRankSum=0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263816 GT:AD:DP:GQ:PL 0/1:2,4:6:63.18:148,0,63
2 170137190 rs831005 A G 53.22 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.61;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263816 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
2 170139180 rs831009 G A 31.03 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=10.34;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263816 GT:AD:DP:GQ:PL 1/1:0,3:3:6:62,6,0
2 170139346 rs831010 C T 1882.90 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.43;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263816 GT:AD:DP:GQ:PL 1/1:0,49:49:99:1916,141,0
2 170139639 rs831011 A G 892.14 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.07;MQ0=0;QD=35.69;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263816 GT:AD:DP:GQ:PL 1/1:0,25:25:69.21:925,69,0
2 170145273 rs2161039 C T 51.75 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263816 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:83,6,0
2 170151354 rs2673173 G A 311.67 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=51.77;MQ0=0;QD=34.63;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263816 GT:AD:DP:GQ:PL 1/1:0,9:9:27.08:345,27,0
2 170163768 rs2247506 T C 807.05 PASS AB=0.509;AC=1;AF=0.50;AN=2;BaseQRankSum=1.895;DB;DP=55;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=59.16;MQ0=0;MQRankSum=0.649;QD=14.67;ReadPosRankSum=0.774;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263816 GT:AD:DP:GQ:PL 0/1:28,27:55:99:837,0,829
2 170175109 rs861239 T C 41.96 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.026;QD=10.49;ReadPosRankSum=1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263816 GT:AD:DP:GQ:PL 0/1:2,2:4:71.48:72,0,71
2 170175334 rs2229263 T C 658.78 PASS AB=0.442;AC=1;AF=0.50;AN=2;BaseQRankSum=1.69;DB;DP=43;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=59.46;MQ0=0;MQRankSum=1.004;QD=15.32;ReadPosRankSum=1.334;SNPEFF_AMINO_ACID_CHANGE=N83S;SNPEFF_CODON_CHANGE=aAc/aGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_170175272_170175394;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000263816 GT:AD:DP:GQ:PL 0/1:19,24:43:99:689,0,559
2 170218816 rs1559013 T C 85.39 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=53.95;MQ0=0;QD=21.35;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263816 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:117,9,0
2 170218847 rs1559014 C G 82.05 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=53.95;MQ0=0;QD=20.51;SNPEFF_AMINO_ACID_CHANGE=A21;SNPEFF_CODON_CHANGE=gcG/gcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_170218831_170219195;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRP2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000263816 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:114,9,0
2 170336024 rs1879466 G C 587.35 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.55;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BBS5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469980 GT:AD:DP:GQ:PL 1/1:0,17:17:45.15:620,45,0
2 170338584 rs11369633 C CA 220.22 PASS AC=2;AF=1.00;AN=2;DB;DP=6;FS=0.0;HRun=1;HaplotypeScore=12.084;IndelType=I;MQ=61.78;MQ0=0;QD=36.7;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BBS5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295240 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:262,18,0
2 170339003 rs2353187 C A 375.49 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BBS5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295240 GT:AD:DP:GQ:PL 1/1:0,11:11:30.10:408,30,0
2 170355944 rs12692909 A T 487.30 PASS AB=0.486;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.271;DB;DP=35;Dels=0.0;FS=4.715;HRun=1;HaplotypeScore=0.0;MQ=59.34;MQ0=0;MQRankSum=-0.545;QD=13.92;ReadPosRankSum=-0.248;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BBS5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443151 GT:AD:DP:GQ:PL 0/1:17,18:35:99:517,0,502
2 170360765 rs72885849 G C 642.33 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=3.228;DB;DP=52;Dels=0.0;FS=2.929;HRun=1;HaplotypeScore=0.9469;MQ=60.0;MQ0=0;MQRankSum=0.312;QD=12.35;ReadPosRankSum=-0.464;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BBS5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295240 GT:AD:DP:GQ:PL 0/1:28,24:52:99:672,0,832
2 170361334 rs111736834 A G 81.68 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.754;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.28;MQ0=0;MQRankSum=0.55;QD=11.67;ReadPosRankSum=-0.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BBS5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000554017 GT:AD:DP:GQ:PL 0/1:3,4:7:94.88:112,0,95
2 170367099 rs28763868 G A 1325.90 PASS AB=0.476;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.298;DB;DP=82;Dels=0.0;FS=0.926;HRun=0;HaplotypeScore=0.9665;MQ=60.0;MQ0=0;MQRankSum=2.276;QD=16.17;ReadPosRankSum=1.235;SNPEFF_AMINO_ACID_CHANGE=A271T;SNPEFF_CODON_CHANGE=Gcg/Acg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_170366212_170367398;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KBTBD10;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000284669 GT:AD:DP:GQ:PL 0/1:39,43:82:99:1356,0,1172
2 170374607 rs13012306 C T 174.23 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.633;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.633;QD=17.42;ReadPosRankSum=1.133;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KBTBD10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000480330 GT:AD:DP:GQ:PL 0/1:4,6:10:99:204,0,131
2 170377737 rs6738934 A G 32.05 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.026;QD=8.01;ReadPosRankSum=-1.026;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KBTBD10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463400 GT:AD:DP:GQ:PL 0/1:2,2:4:62.04:62,0,73
2 170393925 rs2683423 G A 83.17 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.163;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.437;QD=6.4;ReadPosRankSum=-0.978;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FASTKD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000453153 GT:AD:DP:GQ:PL 0/1:8,5:13:99:113,0,282
2 170394487 rs2290005 T A 1331.22 PASS AB=0.453;AC=1;AF=0.50;AN=2;BaseQRankSum=5.348;DB;DP=75;Dels=0.0;FS=6.082;HRun=2;HaplotypeScore=1.5983;MQ=60.0;MQ0=0;MQRankSum=-1.123;QD=17.75;ReadPosRankSum=2.102;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FASTKD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000453153 GT:AD:DP:GQ:PL 0/1:34,41:75:99:1361,0,1162
2 170394876 rs1838903 C T 115.28 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=1.92;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.684;QD=14.41;ReadPosRankSum=-0.322;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FASTKD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000453153 GT:AD:DP:GQ:PL 0/1:3,5:8:81.82:145,0,82
2 170401045 rs2592819 C T 50.52 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FASTKD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000453153 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
2 170402485 rs2683425 A C 50.63 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FASTKD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000453153 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
2 170402629 rs13013167 C T 340.53 PASS AB=0.52;AC=1;AF=0.50;AN=2;BaseQRankSum=1.01;DB;DP=25;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.375;QD=13.62;ReadPosRankSum=-0.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FASTKD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000453153 GT:AD:DP:GQ:PL 0/1:13,12:25:99:371,0,424
2 170403030 rs2253680 T C 859.17 PASS AB=0.42;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.678;DB;DP=50;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9999;MQ=59.07;MQ0=0;MQRankSum=0.092;QD=17.18;ReadPosRankSum=1.414;SNPEFF_AMINO_ACID_CHANGE=M467V;SNPEFF_CODON_CHANGE=Atg/Gtg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_170402728_170403214;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FASTKD1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000453153 GT:AD:DP:GQ:PL 0/1:21,29:50:99:889,0,674
2 170403429 rs2683426 T C 103.95 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.99;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FASTKD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000453153 GT:AD:DP:GQ:PL 1/1:0,4:4:12.01:136,12,0
2 170411693 rs2683455 T C 612.17 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=1.092;DB;DP=52;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.174;QD=11.77;ReadPosRankSum=-1.496;SNPEFF_AMINO_ACID_CHANGE=L385;SNPEFF_CODON_CHANGE=ttA/ttG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_170411634_170411765;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FASTKD1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000453153 GT:AD:DP:GQ:PL 0/1:28,24:52:99:642,0,931
2 170413524 rs11289947 CA C 81.40 PASS AC=2;AF=1.00;AN=2;DB;DP=5;FS=0.0;HRun=11;HaplotypeScore=19.7065;IndelType=D;MQ=62.13;MQ0=0;QD=16.28;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FASTKD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000417376 GT:AD:DP:GQ:PL 1/1:0,5:5:14.98:123,15,0
2 170413601 rs2592824 A T 282.38 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.818;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.63;MQ0=0;MQRankSum=-0.722;QD=16.61;ReadPosRankSum=-0.722;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FASTKD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000417376 GT:AD:DP:GQ:PL 0/1:8,9:17:99:312,0,264
2 170413897 rs78472290 G GA 146.32 PASS AB=0.774;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.578;DB;DP=24;FS=0.0;HRun=8;HaplotypeScore=49.8341;IndelType=I;MQ=60.0;MQ0=0;MQRankSum=-1.986;QD=6.1;ReadPosRankSum=-0.465;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FASTKD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000417376 GT:AD:DP:GQ:PL 0/1:17,7:24:99:185,0,272
2 170419652 rs35894297 C G 127.86 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.927;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.271;QD=9.84;ReadPosRankSum=-2.524;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FASTKD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000417376 GT:AD:DP:GQ:PL 0/1:8,5:13:99:158,0,296
2 170428127 rs4668146 T G 510.33 PASS AB=0.19;AC=1;AF=0.50;AN=2;BaseQRankSum=1.209;DB;DP=21;Dels=0.0;FS=10.569;HRun=0;HaplotypeScore=0.9332;MQ=60.0;MQ0=0;MQRankSum=0.313;QD=24.3;ReadPosRankSum=0.045;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FASTKD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000438035 GT:AD:DP:GQ:PL 0/1:4,17:21:99:540,0,109
2 170460823 rs41268691 T G 55.94 QDFilter2 AB=0.724;AC=1;AF=0.50;AN=2;BaseQRankSum=1.126;DB;DP=30;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=4.6642;MQ=49.96;MQ0=0;MQRankSum=0.785;QD=1.86;ReadPosRankSum=1.74;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPIG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260970 GT:AD:DP:GQ:PL 0/1:21,8:30:85.93:86,0,447
2 170463551 rs2592813 T G 950.62 PASS AB=0.472;AC=1;AF=0.50;AN=2;BaseQRankSum=0.812;DB;DP=72;Dels=0.0;FS=5.017;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.035;QD=13.2;ReadPosRankSum=-0.494;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPIG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418888 GT:AD:DP:GQ:PL 0/1:34,38:72:99:981,0,1138
2 170487154 rs4668149 C G 143.59 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=0.322;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.956;QD=17.95;ReadPosRankSum=0.322;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPIG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260970 GT:AD:DP:GQ:PL 0/1:3,5:8:99:174,0,102
2 170488454 rs3754921 A G 147 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=1.031;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.143;QD=13.36;ReadPosRankSum=-1.186;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPIG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000414307 GT:AD:DP:GQ:PL 0/1:6,5:11:99:177,0,216
2 170492567 rs2290007 A G 586.79 PASS AB=0.52;AC=1;AF=0.50;AN=2;BaseQRankSum=1.432;DB;DP=50;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.16;MQ0=0;MQRankSum=0.691;QD=11.74;ReadPosRankSum=0.511;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPIG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462903 GT:AD:DP:GQ:PL 0/1:26,24:50:99:617,0,822
2 170492584 rs2290008 T C 652.79 PASS AB=0.536;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.228;DB;DP=56;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.8667;MQ=59.25;MQ0=0;MQRankSum=0.904;QD=11.66;ReadPosRankSum=0.786;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPIG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462903 GT:AD:DP:GQ:PL 0/1:30,26:56:99:683,0,930
2 170493103 rs1050354 T A 753.17 PASS AB=0.534;AC=1;AF=0.50;AN=2;BaseQRankSum=1.718;DB;DP=58;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=0.519;QD=12.99;ReadPosRankSum=-0.471;SNPEFF_AMINO_ACID_CHANGE=D430E;SNPEFF_CODON_CHANGE=gaT/gaA;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_170492923_170494221;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPIG;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000409714 GT:AD:DP:GQ:PL 0/1:31,27:58:99:783,0,943
2 170493863 rs8207 A G 750.76 PASS AB=0.586;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.939;DB;DP=70;Dels=0.0;FS=0.918;HRun=0;HaplotypeScore=2.5714;MQ=59.4;MQ0=0;MQRankSum=0.213;QD=10.73;ReadPosRankSum=-0.261;SNPEFF_AMINO_ACID_CHANGE=N684D;SNPEFF_CODON_CHANGE=Aat/Gat;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_170492923_170494221;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPIG;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000409714 GT:AD:DP:GQ:PL 0/1:41,29:70:99:781,0,1273
2 170502919 rs4668150 A G 84.91 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf77;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000447353 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:117,9,0
2 170505684 rs3213946 G A 605.71 PASS AB=0.576;AC=1;AF=0.50;AN=2;BaseQRankSum=2.585;DB;DP=59;Dels=0.0;FS=8.321;HRun=1;HaplotypeScore=0.0;MQ=59.61;MQ0=0;MQRankSum=2.032;QD=10.27;ReadPosRankSum=0.054;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPIG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000530133 GT:AD:DP:GQ:PL 0/1:34,25:59:99:636,0,1147
2 170510374 rs13011829 C T 39.20 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.026;QD=9.8;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf77;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000447353 GT:AD:DP:GQ:PL 0/1:2,2:4:69.20:69,0,72
2 170531572 rs11682248 T C 909.36 PASS AB=0.404;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.196;DB;DP=57;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9332;MQ=59.6;MQ0=0;MQRankSum=-0.903;QD=15.95;ReadPosRankSum=0.48;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf77;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000419478 GT:AD:DP:GQ:PL 0/1:23,34:57:99:939,0,746
2 170531614 rs11688600 A G 513.73 PASS AB=0.385;AC=1;AF=0.50;AN=2;BaseQRankSum=0.817;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.42;MQ0=0;MQRankSum=-0.659;QD=19.76;ReadPosRankSum=-0.448;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf77;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000419478 GT:AD:DP:GQ:PL 0/1:10,16:26:99:544,0,336
2 170550727 rs11690884 G T 412.72 PASS AB=0.438;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.701;DB;DP=32;Dels=0.0;FS=4.467;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.38;QD=12.9;ReadPosRankSum=-0.861;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf77;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421028 GT:AD:DP:GQ:PL 0/1:14,18:32:99:443,0,403
2 170550839 rs3820952 A G 592.28 PASS AB=0.382;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.318;DB;DP=34;Dels=0.0;FS=5.862;HRun=1;HaplotypeScore=0.9983;MQ=60.0;MQ0=0;MQRankSum=-0.805;QD=17.42;ReadPosRankSum=0.879;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KLHL23;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272797 GT:AD:DP:GQ:PL 0/1:13,21:34:99:622,0,366
2 170550956 rs1446901 A C 118.36 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.495;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.922;QD=16.91;ReadPosRankSum=0.198;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf77;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421028 GT:AD:DP:GQ:PL 0/1:2,5:7:61.82:148,0,62
2 170557350 rs3829806 A G 62.19 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=2.404;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.925;QD=5.18;ReadPosRankSum=0.555;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PHOSPHO2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000476919 GT:AD:DP:GQ:PL 0/1:9,3:12:92.18:92,0,323
2 170558231 rs11685651 T C 359.45 PASS AB=0.481;AC=1;AF=0.50;AN=2;BaseQRankSum=0.18;DB;DP=27;Dels=0.0;FS=2.366;HRun=1;HaplotypeScore=0.0;MQ=58.27;MQ0=0;MQRankSum=0.386;QD=13.31;ReadPosRankSum=0.026;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PHOSPHO2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359744 GT:AD:DP:GQ:PL 0/1:13,14:27:99:389,0,398
2 170603399 rs6760734 T C 176.36 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.27;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KLHL23;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272797 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:209,15,0
2 170603578 rs6745705 C A 464.53 PASS AB=0.651;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.854;DB;DP=43;Dels=0.0;FS=1.236;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.007;QD=10.8;ReadPosRankSum=0.242;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KLHL23;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272797 GT:AD:DP:GQ:PL 0/1:28,15:43:99:495,0,885
2 170605981 rs4667607 C T 1200.11 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.3;SNPEFF_AMINO_ACID_CHANGE=G472;SNPEFF_CODON_CHANGE=ggC/ggT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_170605932_170606314;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KLHL23;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000272797 GT:AD:DP:GQ:PL 1/1:0,34:34:96.30:1233,96,0
2 170606450 rs79825047 C T 36 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=41.96;MQ0=0;QD=12.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KLHL23;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272797 GT:AD:DP:GQ:PL 1/1:0,3:3:8.96:68,9,0
2 170606588 rs10164488 A G 98.40 MQFilter40 AC=2;AF=1.00;AN=2;BaseQRankSum=0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=29.0;MQ0=0;MQRankSum=-0.731;QD=19.68;ReadPosRankSum=-0.731;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KLHL23;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272797 GT:AD:DP:GQ:PL 1/1:1,4:5:12.03:131,12,0
2 170606724 rs10164599 A G 862.97 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=53.67;MQ0=0;QD=37.52;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KLHL23;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272797 GT:AD:DP:GQ:PL 1/1:0,23:23:69.22:896,69,0
2 170632960 rs66726148 C CA 650.88 PASS AC=2;AF=1.00;AN=2;DB;DP=23;FS=0.0;HRun=8;HaplotypeScore=162.8095;IndelType=I;MQ=50.2;MQ0=0;QD=28.3;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KLHL23;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000437875 GT:AD:DP:GQ:PL 1/1:4,18:23:62.54:693,63,0
2 170633023 rs79777563 T TA 940.08 PASS AC=2;AF=1.00;AN=2;DB;DP=22;FS=0.0;HRun=4;HaplotypeScore=164.7846;IndelType=I;MQ=49.71;MQ0=0;QD=42.73;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KLHL23;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000437875 GT:AD:DP:GQ:PL 1/1:2,20:22:66.22:982,66,0
2 170633067 rs6745191 G T 501.13 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=51.77;MQ0=0;QD=33.41;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KLHL23;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000437875 GT:AD:DP:GQ:PL 1/1:0,15:15:42.13:534,42,0
2 170633103 rs72542576 GA G 304.11 PASS AC=2;AF=1.00;AN=2;DB;DP=10;FS=0.0;HRun=2;HaplotypeScore=74.0205;IndelType=D;MQ=49.96;MQ0=0;QD=30.41;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KLHL23;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000437875 GT:AD:DP:GQ:PL 1/1:2,8:10:27.09:346,27,0
2 170661912 rs3754914 T C 322.85 PASS AB=0.412;AC=1;AF=0.50;AN=2;BaseQRankSum=2.001;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.22;QD=18.99;ReadPosRankSum=-0.927;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=METTL5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409837 GT:AD:DP:GQ:PL 0/1:7,10:17:99:353,0,227
2 170663800 rs3135036 C G 37.52 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=12.51;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=METTL5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260953 GT:AD:DP:GQ:PL 0/1:1,2:3:16.66:67,0,17
2 170664904 rs72878180 T G 265.05 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=0.471;DB;DP=26;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.693;QD=10.19;ReadPosRankSum=0.471;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=METTL5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260953 GT:AD:DP:GQ:PL 0/1:15,10:26:99:295,0,542
2 170665108 rs2556352 G A 378.38 PASS AB=0.567;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.055;DB;DP=30;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.335;QD=12.61;ReadPosRankSum=1.925;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=METTL5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260953 GT:AD:DP:GQ:PL 0/1:17,13:30:99:408,0,614
2 170666813 rs3754913 T C 594.89 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.592;DB;DP=34;Dels=0.0;FS=6.054;HRun=0;HaplotypeScore=0.0;MQ=58.63;MQ0=0;MQRankSum=-0.63;QD=17.5;ReadPosRankSum=-0.248;SNPEFF_AMINO_ACID_CHANGE=I230;SNPEFF_CODON_CHANGE=atT/atC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_170666793_170666933;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SSB;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000260956 GT:AD:DP:GQ:PL 0/1:11,22:34:99:625,0,333
2 170668106 rs2246149 G A 1049.38 PASS AB=0.492;AC=1;AF=0.50;AN=2;BaseQRankSum=1.533;DB;DP=63;Dels=0.0;FS=3.08;HRun=1;HaplotypeScore=0.9665;MQ=58.97;MQ0=0;MQRankSum=1.065;QD=16.66;ReadPosRankSum=-0.846;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=METTL5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260953 GT:AD:DP:GQ:PL 0/1:31,32:63:99:1079,0,1043
2 170668813 rs3731674 C T 432.07 PASS AB=0.391;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.378;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.99;MQ0=0;MQRankSum=-0.102;QD=18.79;ReadPosRankSum=-0.239;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=METTL5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000538491 GT:AD:DP:GQ:PL 0/1:9,14:23:99:462,0,267
2 170676227 rs1541776 T C 453.71 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.9;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=METTL5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471560 GT:AD:DP:GQ:PL 1/1:0,13:13:36.12:487,36,0
2 170677492 rs2162516 A G 56.35 PASS AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=9.39;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=METTL5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471560 GT:AD:DP:GQ:PL 0/1:1,5:6:28.61:86,0,29
2 170677855 rs34089373 G GT 105.31 PASS AB=0.769;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.44;DB;DP=20;FS=0.0;HRun=10;HaplotypeScore=54.0443;IndelType=I;MQ=60.0;MQ0=0;MQRankSum=-0.922;QD=5.27;ReadPosRankSum=-1.139;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=METTL5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471560 GT:AD:DP:GQ:PL 0/1:14,6:20:99:144,0,185
2 170680879 rs3769767 G A 207.95 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=1.769;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.246;QD=18.9;ReadPosRankSum=1.398;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=METTL5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260953 GT:AD:DP:GQ:PL 0/1:4,7:11:99:238,0,125
2 170762487 rs10171268 C T 2747.45 PASS AC=2;AF=1.00;AN=2;DB;DP=77;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9772;MQ=59.7;MQ0=0;QD=35.68;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBR3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272793 GT:AD:DP:GQ:PL 1/1:0,77:77:99:2780,202,0
2 170782037 rs1461958 C T 338.18 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBR3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272793 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:371,27,0
2 170782338 rs13016918 C T 111.92 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.017;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.922;QD=13.99;ReadPosRankSum=0.421;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBR3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272793 GT:AD:DP:GQ:PL 0/1:4,4:8:99:142,0,113
2 170783092 rs138954381 CAAAAACA C 1587.15 PASS AC=2;AF=1.00;AN=2;DB;DP=28;FS=0.0;HRun=0;HaplotypeScore=211.4701;IndelType=D;MQ=37.77;MQ0=0;QD=56.68;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBR3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272793 GT:AD:DP:GQ:PL 1/1:4,24:28:72.25:1629,72,0
2 170784004 rs6723655 T C 92.65 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.365;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.036;QD=9.27;ReadPosRankSum=1.036;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBR3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272793 GT:AD:DP:GQ:PL 0/1:6,4:10:99:123,0,220
2 170784049 rs898851 G A 172.88 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBR3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272793 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:206,15,0
2 170785129 rs898849 A G 168.83 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBR3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272793 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:202,15,0
2 170785484 rs10165565 G A 351.88 PASS AB=0.542;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.275;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=14.66;ReadPosRankSum=2.144;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBR3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272793 GT:AD:DP:GQ:PL 0/1:13,11:24:99:382,0,457
2 170821289 rs17556553 G A 131.94 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=0.143;DB;DP=11;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.143;QD=11.99;ReadPosRankSum=-0.825;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBR3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272793 GT:AD:DP:GQ:PL 0/1:6,5:11:99:162,0,195
2 170843469 rs2061620 T C 83.87 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.96;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBR3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272793 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:116,9,0
2 170850738 rs1461959 T C 836.11 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.44;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBR3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272793 GT:AD:DP:GQ:PL 1/1:0,25:25:66.21:869,66,0
2 170857653 rs6747881 G T 46.12 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.06;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBR3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272793 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:77,6,0
2 170865588 rs10205516 G T 146.39 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.922;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.198;QD=20.91;ReadPosRankSum=0.198;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBR3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272793 GT:AD:DP:GQ:PL 0/1:2,5:7:60.48:176,0,60
2 170871976 rs13028230 A G 32.50 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.72;QD=5.42;ReadPosRankSum=-0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBR3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272793 GT:AD:DP:GQ:PL 0/1:4,2:6:62.49:62,0,148
2 170917648 rs10203212 A G 903.07 PASS AB=0.492;AC=1;AF=0.50;AN=2;BaseQRankSum=1.808;DB;DP=63;Dels=0.0;FS=5.067;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.505;QD=14.33;ReadPosRankSum=-0.406;SNPEFF_AMINO_ACID_CHANGE=L1615;SNPEFF_CODON_CHANGE=ctA/ctG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_170917589_170917696;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBR3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000272793 GT:AD:DP:GQ:PL 0/1:31,32:63:99:933,0,964
2 170917983 rs66965733 CT C 942.18 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.051;DB;DP=62;FS=5.584;HRun=12;HaplotypeScore=243.0266;IndelType=D;MQ=57.71;MQ0=0;MQRankSum=0.758;QD=15.2;ReadPosRankSum=1.532;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBR3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272793 GT:AD:DP:GQ:PL 1/1:12,48:62:37.90:984,38,0
2 170929880 rs10202446 G A 387.85 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.613;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.678;QD=9.94;ReadPosRankSum=-0.765;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBR3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272793 GT:AD:DP:GQ:PL 0/1:24,15:39:99:418,0,818
2 170930241 rs3217724 G GA 166.65 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.742;DB;DP=8;FS=0.0;HRun=6;HaplotypeScore=33.3466;IndelType=I;MQ=57.05;MQ0=0;MQRankSum=-0.742;QD=20.83;ReadPosRankSum=0.742;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBR3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272793 GT:AD:DP:GQ:PL 0/1:2,6:8:9.55:205,0,10
2 171055942 rs35521414 T A 136.70 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=0.198;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.198;QD=19.53;ReadPosRankSum=0.198;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=MYO3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317915 GT:AD:DP:GQ:PL 0/1:2,5:7:61.40:167,0,61
2 171056569 rs6756347 T A 174.68 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=21;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.77;MQ0=0;MQRankSum=0.112;QD=8.32;ReadPosRankSum=-0.634;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=MYO3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317915 GT:AD:DP:GQ:PL 0/1:14,7:21:99:205,0,474
2 171070810 rs67994603 G T 246.02 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=3.022;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.652;QD=16.4;ReadPosRankSum=-0.993;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=MYO3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317915 GT:AD:DP:GQ:PL 0/1:7,8:15:99:276,0,193
2 171070850 rs13423313 G T 410.82 PASS AB=0.48;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.985;DB;DP=25;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.952;QD=16.43;ReadPosRankSum=-0.517;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=MYO3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317915 GT:AD:DP:GQ:PL 0/1:12,13:25:99:441,0,413
2 171070912 rs13385825 T C 681.48 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.175;DB;DP=52;Dels=0.0;FS=2.307;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.285;QD=13.11;ReadPosRankSum=0.211;SNPEFF_AMINO_ACID_CHANGE=T114;SNPEFF_CODON_CHANGE=acT/acC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_171070889_171070993;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=MYO3B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000317915 GT:AD:DP:GQ:PL 0/1:24,28:52:99:711,0,798
2 171071369 rs4667626 C T 378.07 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=MYO3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317915 GT:AD:DP:GQ:PL 1/1:0,11:11:30.10:411,30,0
2 171073887 rs2161916 G A 2388.86 PASS AB=0.558;AC=1;AF=0.50;AN=2;BaseQRankSum=0.841;DB;DP=183;Dels=0.0;FS=6.068;HRun=0;HaplotypeScore=8.0179;MQ=59.24;MQ0=0;MQRankSum=0.51;QD=13.05;ReadPosRankSum=0.823;SNPEFF_AMINO_ACID_CHANGE=P194;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_171073829_171073905;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=MYO3B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000317915 GT:AD:DP:GQ:PL 0/1:101,80:183:99:2419,0,2966
2 171074008 rs6713360 G C 362.56 PASS AB=0.435;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.83;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9832;MQ=58.99;MQ0=0;MQRankSum=-1.333;QD=15.76;ReadPosRankSum=-1.147;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=MYO3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317915 GT:AD:DP:GQ:PL 0/1:10,13:23:99:393,0,346
2 171092363 rs6433185 G A 338.24 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=MYO3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317915 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:371,27,0
2 171092445 rs1035625 A G 1239.40 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.56;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=MYO3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317915 GT:AD:DP:GQ:PL 1/1:0,33:33:96.31:1272,96,0
2 171192084 rs12466203 G A 147.42 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.48;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=MYO3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317915 GT:AD:DP:GQ:PL 1/1:0,5:5:15.03:180,15,0
2 171225841 rs4668246 A G 513.90 PASS AB=0.548;AC=1;AF=0.50;AN=2;BaseQRankSum=0.614;DB;DP=42;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=58.89;MQ0=0;MQRankSum=0.693;QD=12.24;ReadPosRankSum=0.98;SNPEFF_AMINO_ACID_CHANGE=K308E;SNPEFF_CODON_CHANGE=Aag/Gag;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_171225732_171225887;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=MYO3B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000317915 GT:AD:DP:GQ:PL 0/1:23,19:42:99:544,0,715
2 171239560 rs12471568 A G 1164.16 PASS AB=0.371;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.089;DB;DP=70;Dels=0.0;FS=2.262;HRun=0;HaplotypeScore=1.8997;MQ=60.0;MQ0=0;MQRankSum=0.082;QD=16.63;ReadPosRankSum=-0.423;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=MYO3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317915 GT:AD:DP:GQ:PL 0/1:26,44:70:99:1194,0,759
2 171240249 rs11675394 C T 1088.91 PASS AB=0.537;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.19;DB;DP=83;Dels=0.0;FS=3.549;HRun=0;HaplotypeScore=0.7887;MQ=59.72;MQ0=0;MQRankSum=-0.763;QD=13.12;ReadPosRankSum=0.175;SNPEFF_AMINO_ACID_CHANGE=R404;SNPEFF_CODON_CHANGE=cgC/cgT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_171240220_171240324;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=MYO3B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000317915 GT:AD:DP:GQ:PL 0/1:44,38:83:99:1119,0,1168
2 171248778 rs62170829 G A 119.61 PASS AB=0.684;AC=1;AF=0.50;AN=2;BaseQRankSum=1.009;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.395;QD=6.3;ReadPosRankSum=1.71;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=MYO3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317915 GT:AD:DP:GQ:PL 0/1:13,6:19:99:150,0,438
2 171249093 rs2013102 C T 523.38 PASS AB=0.424;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.893;DB;DP=33;Dels=0.0;FS=10.916;HRun=0;HaplotypeScore=0.0;MQ=59.3;MQ0=0;MQRankSum=0.741;QD=15.86;ReadPosRankSum=0.513;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=MYO3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317915 GT:AD:DP:GQ:PL 0/1:14,19:33:99:553,0,383
2 171256597 rs7561268 A C 196.89 PASS AB=0.55;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.583;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9987;MQ=58.84;MQ0=0;MQRankSum=-1.064;QD=9.84;ReadPosRankSum=-0.456;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=MYO3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317915 GT:AD:DP:GQ:PL 0/1:11,9:20:99:227,0,333
2 171257945 rs7568041 A T 325.21 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.341;DB;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.297;QD=14.78;ReadPosRankSum=0.626;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=MYO3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317915 GT:AD:DP:GQ:PL 0/1:10,12:22:99:355,0,284
2 171260708 rs10930425 C A 3078.37 PASS AC=2;AF=1.00;AN=2;DB;DP=101;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9159;MQ=59.36;MQ0=0;QD=30.48;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=MYO3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317915 GT:AD:DP:GQ:PL 1/1:0,100:101:99:3111,235,0
2 171260787 rs6736609 G A 3101.87 PASS AC=2;AF=1.00;AN=2;DB;DP=92;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=59.5;MQ0=0;QD=33.72;SNPEFF_AMINO_ACID_CHANGE=V769I;SNPEFF_CODON_CHANGE=Gta/Ata;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_171260757_171260910;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=MYO3B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000317915 GT:AD:DP:GQ:PL 1/1:0,92:92:99:3135,241,0
2 171260797 rs33962844 A G 860.95 PASS AB=0.56;AC=1;AF=0.50;AN=2;BaseQRankSum=0.822;DB;DP=84;Dels=0.0;FS=4.77;HRun=2;HaplotypeScore=0.7887;MQ=59.45;MQ0=0;MQRankSum=0.308;QD=10.25;ReadPosRankSum=0.188;SNPEFF_AMINO_ACID_CHANGE=E772G;SNPEFF_CODON_CHANGE=gAa/gGa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_171260757_171260910;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=MYO3B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000317915 GT:AD:DP:GQ:PL 0/1:47,37:84:99:891,0,1495
2 171260820 rs6751520 T C 2265.89 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.66;MQ0=0;QD=33.32;SNPEFF_AMINO_ACID_CHANGE=L780;SNPEFF_CODON_CHANGE=Ttg/Ctg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_171260757_171260910;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=MYO3B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000317915 GT:AD:DP:GQ:PL 1/1:0,67:68:99:2299,178,0
2 171261021 rs6751781 T G 338.43 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.43;MQ0=0;QD=28.2;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=MYO3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317915 GT:AD:DP:GQ:PL 1/1:0,12:12:30.09:371,30,0
2 171264091 . T TGCTCTGGATATGAAA 3361.52 PASS AC=2;AF=1.00;AN=2;DP=22;FS=0.0;HRun=0;HaplotypeScore=199.8947;IndelType=I;MQ=43.17;MQ0=0;QD=152.8;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=MYO3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317915 GT:AD:DP:GQ:PL 1/1:11,10:22:54.19:3362,54,0
2 171264482 rs1561393 G C 247.62 PASS AB=0.52;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.215;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.169;QD=9.9;ReadPosRankSum=-0.354;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=MYO3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317915 GT:AD:DP:GQ:PL 0/1:13,12:25:99:278,0,474
2 171264541 rs1370936 C A 161.21 PASS AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=26.87;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=MYO3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317915 GT:AD:DP:GQ:PL 0/1:1,5:6:16.29:191,0,16
2 171300575 rs17426211 C A 1338.51 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;QD=32.65;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=MYO3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317915 GT:AD:DP:GQ:PL 1/1:0,41:41:99:1372,102,0
2 171300648 rs4667639 T A 688.45 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.25;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=MYO3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317915 GT:AD:DP:GQ:PL 1/1:0,18:18:54.16:721,54,0
2 171319658 rs13023539 C T 104.14 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.04;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=MYO3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317915 GT:AD:DP:GQ:PL 1/1:0,4:4:12.01:137,12,0
2 171323328 rs4359605 T C 162.71 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.12;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=MYO3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317915 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:195,15,0
2 171323416 rs2164963 A C 50.52 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=16.84;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=MYO3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317915 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:82,6,0
2 171355198 rs6761297 A G 2485.54 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.36;MQ0=0;QD=38.24;SNPEFF_AMINO_ACID_CHANGE=V1036;SNPEFF_CODON_CHANGE=gtA/gtG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_171355102_171355213;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=MYO3B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000317915 GT:AD:DP:GQ:PL 1/1:0,65:65:99:2519,184,0
2 171355329 rs6733198 G C 187.47 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.24;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=MYO3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317915 GT:AD:DP:GQ:PL 1/1:0,6:6:18.04:220,18,0
2 171356051 rs66474378 TTATTTA T 318.91 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=1.589;DB;DP=9;FS=0.0;HRun=0;HaplotypeScore=58.541;IndelType=D;MQ=48.54;MQ0=0;MQRankSum=-0.572;QD=35.43;ReadPosRankSum=-1.589;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=MYO3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317915 GT:AD:DP:GQ:PL 0/1:4,5:9:99:358,0,190
2 171356274 rs10185178 G A 1488.37 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=57.79;MQ0=0;QD=28.08;SNPEFF_AMINO_ACID_CHANGE=R1081K;SNPEFF_CODON_CHANGE=aGg/aAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_171356156_171356318;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=MYO3B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000317915 GT:AD:DP:GQ:PL 1/1:1,52:53:99:1521,126,0
2 171356423 rs9752383 T C 202.14 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=56.62;MQ0=0;QD=28.88;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=MYO3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484338 GT:AD:DP:GQ:PL 1/1:0,7:7:18.06:235,18,0
2 171358211 rs7593940 G A 334.09 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.41;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=MYO3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484338 GT:AD:DP:GQ:PL 1/1:0,10:10:27.09:367,27,0
2 171358474 rs7608168 T A 53.64 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=13.41;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=MYO3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484338 GT:AD:DP:GQ:PL 1/1:0,4:4:6.02:85,6,0
2 171508490 rs67792340 CA C 681.17 PASS AC=2;AF=1.00;AN=2;DB;DP=26;FS=0.0;HRun=8;HaplotypeScore=68.5108;IndelType=D;MQ=60.42;MQ0=0;QD=26.2;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=MYO3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317915 GT:AD:DP:GQ:PL 1/1:1,25:26:75.12:723,75,0
2 171524901 rs1157200 T C 813.58 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.07;MQ0=0;QD=32.54;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC007277.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000428156 GT:AD:DP:GQ:PL 1/1:1,24:25:63.21:847,63,0
2 171539261 rs1035150 C T 406.20 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.193;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.27;QD=20.31;ReadPosRankSum=0.887;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC007277.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000428156 GT:AD:DP:GQ:PL 0/1:8,12:20:99:436,0,259
2 171539416 rs13430227 G T 407.71 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.263;DB;DP=32;Dels=0.0;FS=4.041;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=-0.66;QD=12.74;ReadPosRankSum=-0.471;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC007277.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000428156 GT:AD:DP:GQ:PL 0/1:16,16:32:99:438,0,535
2 171608172 rs34002163 T C 158.60 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=55.21;MQ0=0;QD=31.72;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC007405.4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000442456 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:191,15,0
2 171632225 rs17694506 C T 32.79 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=47.12;MQ0=0;QD=16.39;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AC007405.6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426475 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:64,6,0
2 171632385 rs10626619 C CTT 5208.09 PASS AC=2;AF=1.00;AN=2;DB;DP=87;FS=0.0;HRun=0;HaplotypeScore=523.776;IndelType=I;MQ=57.0;MQ0=0;QD=59.86;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AC007405.6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426475 GT:AD:DP:GQ:PL 1/1:7,80:87:99:5208,256,0
2 171632401 rs13028382 C T 3276.44 PASS AC=2;AF=1.00;AN=2;DB;DP=102;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.34;MQ0=0;QD=32.12;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AC007405.6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426475 GT:AD:DP:GQ:PL 1/1:0,102:102:99:3276,241,0
2 171634347 rs11334749 TA T 376.02 PASS AC=2;AF=1.00;AN=2;DB;DP=10;FS=0.0;HRun=1;HaplotypeScore=24.2694;IndelType=D;MQ=62.13;MQ0=0;QD=37.6;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AC007405.6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000429172 GT:AD:DP:GQ:PL 1/1:0,10:10:30.10:418,30,0
2 171638632 rs66805205 CTATT C 423.36 PASS AC=2;AF=1.00;AN=2;DB;DP=8;FS=0.0;HRun=0;HaplotypeScore=41.1014;IndelType=D;MQ=50.65;MQ0=0;QD=52.92;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC007405.7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409885 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:465,24,0
2 171649402 rs3764916 C T 1761.17 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.55;MQ0=0;QD=34.53;SNPEFF_AMINO_ACID_CHANGE=Y82;SNPEFF_CODON_CHANGE=taC/taT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_171649373_171649430;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC007405.7;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000409885 GT:AD:DP:GQ:PL 1/1:0,51:51:99:1794,132,0
2 171649644 rs3764915 G A 47.97 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.98;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC007405.7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409885 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
2 171654663 rs2287111 A C 491.56 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.55;MQ0=0;QD=30.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC007405.7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409885 GT:AD:DP:GQ:PL 1/1:0,16:16:39.13:525,39,0
2 171818289 rs2557804 G A 1730.60 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GORASP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234160 GT:AD:DP:GQ:PL 1/1:0,49:49:99:1764,129,0
2 171822466 rs4668356 C T 1793.98 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.3375;MQ=59.3;MQ0=0;QD=27.18;SNPEFF_AMINO_ACID_CHANGE=S395;SNPEFF_CODON_CHANGE=tcC/tcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_171822300_171823639;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GORASP2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000234160 GT:AD:DP:GQ:PL 1/1:0,65:66:99:1827,150,0
2 171863724 rs2557795 C T 154.32 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.86;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TLK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360843 GT:AD:DP:GQ:PL 1/1:0,5:5:15.02:187,15,0
2 171902604 rs6751462 A T 927 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.11;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TLK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360843 GT:AD:DP:GQ:PL 1/1:0,28:28:75.24:960,75,0
2 171912911 rs17283147 A T 605.99 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.86;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TLK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360843 GT:AD:DP:GQ:PL 1/1:0,21:21:51.16:639,51,0
2 171913207 rs71399595 CAA C 164.26 PASS AC=2;AF=1.00;AN=2;DB;DP=8;FS=0.0;HRun=12;HaplotypeScore=29.6479;IndelType=D;MQ=63.93;MQ0=0;QD=20.53;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TLK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360843 GT:AD:DP:GQ:PL 1/1:1,7:8:21.03:206,21,0
2 171916371 rs3731990 C T 548.07 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.45;MQ0=0;QD=36.54;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TLK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360843 GT:AD:DP:GQ:PL 1/1:0,15:15:42.14:581,42,0
2 171916664 rs2676130 A T 681.08 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.569;DB;DP=21;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.073;QD=32.43;ReadPosRankSum=0.083;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TLK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360843 GT:AD:DP:GQ:PL 1/1:1,20:21:57.18:714,57,0
2 171939400 . AT A 456.54 PASS AB=0.734;AC=1;AF=0.50;AN=2;BaseQRankSum=5.93;DP=58;FS=0.0;HRun=7;HaplotypeScore=133.7347;IndelType=D;MQ=60.19;MQ0=0;MQRankSum=1.283;QD=7.87;ReadPosRankSum=0.96;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TLK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360843 GT:AD:DP:GQ:PL 0/1:37,21:58:99:496,0,906
2 172180771 rs10205459 A G 2291.17 PASS AC=2;AF=1.00;AN=2;DB;DP=70;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.34;MQ0=0;QD=32.73;SNPEFF_AMINO_ACID_CHANGE=*379R;SNPEFF_CODON_CHANGE=Tga/Cga;SNPEFF_EFFECT=STOP_LOST;SNPEFF_EXON_ID=exon_2_172180297_172180872;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=METTL8;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000375258 GT:AD:DP:GQ:PL 1/1:0,70:70:99:2324,178,0
2 172195545 rs1733487 G A 509.04 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.45;MQ0=0;QD=33.94;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=METTL8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000442541 GT:AD:DP:GQ:PL 1/1:0,15:15:42.11:542,42,0
2 172291616 rs6751956 C T 625.23 PASS AB=0.51;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.433;DB;DP=49;Dels=0.0;FS=1.157;HRun=1;HaplotypeScore=0.5784;MQ=59.05;MQ0=0;MQRankSum=0.949;QD=12.76;ReadPosRankSum=-0.206;SNPEFF_AMINO_ACID_CHANGE=V50;SNPEFF_CODON_CHANGE=gtC/gtT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_172291593_172291696;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=DCAF17;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000375255 GT:AD:DP:GQ:PL 0/1:25,24:49:99:655,0,770
2 172305092 rs17220419 T C 260.05 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=1.78;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.63;MQ0=0;MQRankSum=0.048;QD=15.3;ReadPosRankSum=0.144;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=DCAF17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375255 GT:AD:DP:GQ:PL 0/1:8,9:17:99:290,0,283
2 172305175 . C CT 270.21 PASS AB=0.766;AC=1;AF=0.50;AN=2;BaseQRankSum=3.504;DP=49;FS=1.268;HRun=1;HaplotypeScore=277.7353;IndelType=I;MQ=57.02;MQ0=0;MQRankSum=-0.977;QD=5.51;ReadPosRankSum=-0.793;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=DCAF17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375255 GT:AD:DP:GQ:PL 0/1:34,15:49:99:309,0,796
2 172309506 rs3731985 T A 222.05 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=1.398;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.597;QD=20.19;ReadPosRankSum=-0.278;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=DCAF17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000480855 GT:AD:DP:GQ:PL 0/1:4,7:11:99:252,0,117
2 172314644 rs113919155 AT A 457.23 PASS AB=0.705;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.639;DB;DP=67;FS=0.0;HRun=11;HaplotypeScore=264.4932;IndelType=D;MQ=59.8;MQ0=0;MQRankSum=-0.13;QD=6.82;ReadPosRankSum=-0.531;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=DCAF17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375255 GT:AD:DP:GQ:PL 0/1:17,28:67:99:496,0,183
2 172315211 rs4458186 C T 51.75 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=DCAF17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375255 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:83,6,0
2 172329458 rs36112363 G T 1215.02 PASS AB=0.354;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.327;DB;DP=65;Dels=0.0;FS=5.694;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.899;QD=18.69;ReadPosRankSum=-0.171;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=DCAF17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375255 GT:AD:DP:GQ:PL 0/1:23,42:65:99:1245,0,707
2 172330393 rs3731983 A G 157.26 PASS AB=0.784;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.384;DB;DP=37;Dels=0.0;FS=1.642;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.35;QD=4.25;ReadPosRankSum=1.088;SNPEFF_AMINO_ACID_CHANGE=Q333;SNPEFF_CODON_CHANGE=caA/caG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_172330376_172330485;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=DCAF17;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000375255 GT:AD:DP:GQ:PL 0/1:29,8:37:99:187,0,926
2 172333295 rs4668387 C T 254.74 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.648;DB;DP=15;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.237;QD=16.98;ReadPosRankSum=0.412;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=DCAF17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000493106 GT:AD:DP:GQ:PL 0/1:6,9:15:99:285,0,209
2 172336541 rs3731981 C T 527.30 PASS AB=0.644;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.427;DB;DP=59;Dels=0.0;FS=2.428;HRun=1;HaplotypeScore=1.9865;MQ=59.68;MQ0=0;MQRankSum=0.162;QD=8.94;ReadPosRankSum=-0.76;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=DCAF17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375255 GT:AD:DP:GQ:PL 0/1:38,21:59:99:557,0,1170
2 172373731 . CTTT C 147.28 PASS AC=2;AF=1.00;AN=2;DP=13;FS=0.0;HRun=17;HaplotypeScore=101.8717;IndelType=D;MQ=50.97;MQ0=0;QD=9.82;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=AC007969.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397084 GT:AD:DP:GQ:PL 1/1:2,11:13:20.47:189,20,0
2 172374000 rs6433295 T G 189.56 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=25.43;MQ0=0;QD=17.23;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYBRD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000321348 GT:AD:DP:GQ:PL 1/1:0,11:11:21.05:222,21,0
2 172374078 rs6433296 C G 68.27 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=29.0;MQ0=0;QD=17.07;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYBRD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000321348 GT:AD:DP:GQ:PL 1/1:0,4:4:9.02:100,9,0
2 172374120 rs6724344 G A 42.20 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=33.24;MQ0=0;QD=21.1;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYBRD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000321348 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:73,6,0
2 172410874 rs2111719 C T 293.21 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.58;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYBRD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468308 GT:AD:DP:GQ:PL 1/1:0,9:9:24.08:326,24,0
2 172549248 rs6433311 A G 292.52 PASS AB=0.706;AC=1;AF=0.50;AN=2;BaseQRankSum=0.472;DB;DP=34;Dels=0.0;FS=1.937;HRun=0;HaplotypeScore=0.9933;MQ=60.0;MQ0=0;MQRankSum=-0.094;QD=8.6;ReadPosRankSum=0.019;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DYNC1I2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263811 GT:AD:DP:GQ:PL 0/1:24,10:34:99:323,0,702
2 172549630 rs6757773 T A 214.28 PASS AB=0.3;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.166;DB;DP=10;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.546;QD=21.43;ReadPosRankSum=-0.895;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DYNC1I2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471482 GT:AD:DP:GQ:PL 0/1:3,7:10:97.79:244,0,98
2 172563922 rs312925 G A 1555.22 PASS AB=0.47;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.204;DB;DP=101;Dels=0.0;FS=3.526;HRun=2;HaplotypeScore=1.7998;MQ=59.59;MQ0=0;MQRankSum=-1.076;QD=15.4;ReadPosRankSum=-0.697;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DYNC1I2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263811 GT:AD:DP:GQ:PL 0/1:47,53:101:99:1585,0,1534
2 172564021 rs312924 A T 264.14 PASS AB=0.56;AC=1;AF=0.50;AN=2;BaseQRankSum=0.849;DB;DP=25;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.07;MQ0=0;MQRankSum=0.027;QD=10.57;ReadPosRankSum=-0.027;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DYNC1I2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263811 GT:AD:DP:GQ:PL 0/1:14,11:25:99:294,0,480
2 172569134 rs5836347 AT A 91.21 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=2.088;DB;DP=20;FS=0.0;HRun=12;HaplotypeScore=102.9967;IndelType=D;MQ=58.77;MQ0=0;MQRankSum=2.088;QD=4.56;ReadPosRankSum=-0.044;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DYNC1I2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263811 GT:AD:DP:GQ:PL 0/1:12,8:20:99:130,0,244
2 172569587 rs312918 G C 52.05 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.02;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DYNC1I2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000430778 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:83,6,0
2 172582111 rs35175731 T TG 342.63 PASS AB=0.732;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.364;DB;DP=30;FS=0.0;HRun=0;HaplotypeScore=174.2912;IndelType=I;MQ=51.99;MQ0=0;MQRankSum=1.161;QD=11.42;ReadPosRankSum=0.871;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DYNC1I2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263811 GT:AD:DP:GQ:PL 0/1:19,11:30:99:382,0,371
2 172582281 rs148511744 A ATTAC 1989.52 PASS AC=2;AF=1.00;AN=2;DB;DP=29;FS=0.0;HRun=0;HaplotypeScore=102.9835;IndelType=I;MQ=47.23;MQ0=0;QD=68.6;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DYNC1I2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000422646 GT:AD:DP:GQ:PL 1/1:6,23:29:78.27:2032,78,0
2 172582344 rs139881666 AAC A 466.84 PASS AB=0.732;AC=1;AF=0.50;AN=2;BaseQRankSum=1.29;DB;DP=30;FS=7.04;HRun=0;HaplotypeScore=139.873;IndelType=D;MQ=54.65;MQ0=0;MQRankSum=-0.046;QD=15.56;ReadPosRankSum=-0.046;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DYNC1I2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000422646 GT:AD:DP:GQ:PL 0/1:19,11:30:99:506,0,786
2 172586567 rs2292814 G A 216.74 PASS AB=0.125;AC=1;AF=0.50;AN=2;BaseQRankSum=0.747;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.63;MQ0=0;MQRankSum=0.747;QD=27.09;ReadPosRankSum=0.747;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DYNC1I2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000422646 GT:AD:DP:GQ:PL 0/1:1,7:8:10.28:247,0,10
2 172642057 rs12692973 C T 238.16 PASS AB=0.565;AC=1;AF=0.50;AN=2;BaseQRankSum=3.472;DB;DP=23;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.334;QD=10.35;ReadPosRankSum=-0.467;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC25A12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392592 GT:AD:DP:GQ:PL 0/1:13,10:23:99:268,0,358
2 172644229 rs2292813 T C 1720.90 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.13;MQ0=0;QD=32.47;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC25A12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392592 GT:AD:DP:GQ:PL 1/1:0,52:53:99:1754,138,0
2 172650382 rs6745143 G A 228.69 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.893;DB;DP=16;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.053;QD=14.29;ReadPosRankSum=0.578;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC25A12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392592 GT:AD:DP:GQ:PL 0/1:8,8:16:99:259,0,280
2 172712107 rs3836018 T TG 182.62 PASS AC=2;AF=1.00;AN=2;DB;DP=5;FS=0.0;HRun=1;HaplotypeScore=9.3682;IndelType=I;MQ=62.13;MQ0=0;QD=36.52;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC25A12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464063 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:224,15,0
2 172712480 rs2056202 T C 3855.27 PASS AC=2;AF=1.00;AN=2;DB;DP=105;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.5592;MQ=59.56;MQ0=0;QD=36.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC25A12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392592 GT:AD:DP:GQ:PL 1/1:0,105:105:99:3855,286,0
2 172725301 rs1878583 A G 1622.65 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=60.0;MQ0=0;QD=33.81;SNPEFF_AMINO_ACID_CHANGE=Y33;SNPEFF_CODON_CHANGE=taT/taC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_172725191_172725333;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC25A12;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000422440 GT:AD:DP:GQ:PL 1/1:0,47:48:99:1656,120,0
2 172821739 rs1982288 G T 342.51 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.06;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=HAT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264108 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:375,27,0
2 172864695 rs6729945 C G 94.21 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=1.226;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=44.98;MQ0=0;MQRankSum=0.581;QD=6.73;ReadPosRankSum=1.097;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_2_172864490_172864916;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=METAP1D;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000315796 GT:AD:DP:GQ:PL 0/1:8,6:14:76.24:124,0,76
2 172944748 rs58045367 G A 138.84 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=2.219;DB;DP=10;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=13.88;ReadPosRankSum=1.159;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=METAP1D;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315796 GT:AD:DP:GQ:PL 0/1:4,6:10:99:169,0,134
2 172952532 rs705868 A C 284.51 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.61;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DLX1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361609 GT:AD:DP:GQ:PL 1/1:0,9:9:27.06:317,27,0
2 172966250 rs2228184 T C 233.26 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=0.146;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.1593;MQ=57.1;MQ0=0;MQRankSum=-0.673;QD=8.97;ReadPosRankSum=1.493;SNPEFF_AMINO_ACID_CHANGE=Q175;SNPEFF_CODON_CHANGE=caA/caG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_172966190_172966374;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DLX2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000234198 GT:AD:DP:GQ:PL 0/1:16,10:26:99:263,0,414
2 173333720 rs17676773 G A 116.38 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.731;QD=23.28;ReadPosRankSum=0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGA6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264106 GT:AD:DP:GQ:PL 0/1:1,4:5:22.75:146,0,23
2 173334161 . T TATGATTTAGTACC 2103.67 PASS AB=0.737;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.943;DP=28;FS=3.565;HRun=0;HaplotypeScore=232.1988;IndelType=I;MQ=51.53;MQ0=0;MQRankSum=-2.436;QD=75.13;ReadPosRankSum=-0.52;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGA6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264106 GT:AD:DP:GQ:PL 0/1:18,9:28:99:2143,0,1159
2 173339808 rs11895564 G A 1198.69 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.32;MQ0=0;QD=35.26;SNPEFF_AMINO_ACID_CHANGE=A261T;SNPEFF_CODON_CHANGE=Gca/Aca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_173339657_173339850;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGA6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000409532 GT:AD:DP:GQ:PL 1/1:0,34:34:93.29:1232,93,0
2 173340200 rs11464370 C CA 193.66 PASS AB=0.71;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.139;DB;DP=22;FS=0.0;HRun=9;HaplotypeScore=48.9852;IndelType=I;MQ=60.49;MQ0=0;MQRankSum=0.935;QD=8.8;ReadPosRankSum=1.469;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGA6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000412899 GT:AD:DP:GQ:PL 0/1:13,9:22:99:233,0,272
2 173344474 rs1920979 A G 3693.93 PASS AC=2;AF=1.00;AN=2;DB;DP=107;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.4304;MQ=60.0;MQ0=0;QD=34.52;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGA6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000412899 GT:AD:DP:GQ:PL 1/1:0,105:107:99:3694,283,0
2 173352103 rs2293649 C T 522.55 PASS AB=0.635;AC=1;AF=0.50;AN=2;BaseQRankSum=2.603;DB;DP=52;Dels=0.0;FS=11.221;HRun=0;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=-0.703;QD=10.05;ReadPosRankSum=-1.007;SNPEFF_AMINO_ACID_CHANGE=D575;SNPEFF_CODON_CHANGE=gaC/gaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_173351992_173352181;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGA6;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000409532 GT:AD:DP:GQ:PL 0/1:33,19:52:99:553,0,953
2 173353060 rs1319059 G A 214.93 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.82;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGA6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264106 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:248,18,0
2 173369000 rs61499296 A AT 315.33 PASS AB=0.87;AC=1;AF=0.50;AN=2;BaseQRankSum=0.299;DB;DP=40;FS=0.0;HRun=0;HaplotypeScore=125.3378;IndelType=I;MQ=58.84;MQ0=0;MQRankSum=-0.239;QD=7.88;ReadPosRankSum=-1.374;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGA6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000442250 GT:AD:DP:GQ:PL 0/1:34,6:40:99:354,0,818
2 173369000 rs17286988 A T 68.94 QDFilter2 AB=0.775;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.95;DB;DP=40;Dels=0.0;FS=1.652;HRun=0;HaplotypeScore=9.994;MQ=58.84;MQ0=0;MQRankSum=0.383;QD=1.72;ReadPosRankSum=-0.083;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGA6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000442250 GT:AD:DP:GQ:PL 0/1:31,9:40:98.94:99,0,931
2 173427053 rs10176813 T G 504.99 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=3.637;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.6;MQ0=0;MQRankSum=-0.312;QD=16.83;ReadPosRankSum=1.102;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282077 GT:AD:DP:GQ:PL 0/1:14,16:30:99:535,0,477
2 173460640 rs12693005 T C 366.99 PASS AB=0.516;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.233;DB;DP=31;Dels=0.0;FS=1.862;HRun=0;HaplotypeScore=0.9332;MQ=59.25;MQ0=0;MQRankSum=1.206;QD=11.84;ReadPosRankSum=-0.731;SNPEFF_AMINO_ACID_CHANGE=D263;SNPEFF_CODON_CHANGE=gaT/gaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_173460557_173460746;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDK1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000544863 GT:AD:DP:GQ:PL 0/1:16,15:31:99:397,0,425
2 173659913 rs7585729 T C 2448.33 PASS AC=2;AF=1.00;AN=2;DB;DP=79;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9907;MQ=59.18;MQ0=0;QD=30.99;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RAPGEF4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264111 GT:AD:DP:GQ:PL 1/1:1,78:79:99:2481,208,0
2 173662354 rs6433382 A G 291.13 PASS AB=0.45;AC=1;AF=0.50;AN=2;BaseQRankSum=0.836;DB;DP=20;Dels=0.0;FS=2.35;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.228;QD=14.56;ReadPosRankSum=-0.076;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RAPGEF4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264111 GT:AD:DP:GQ:PL 0/1:9,11:20:99:321,0,274
2 173686663 rs2258180 G T 295.86 PASS AB=0.688;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.102;DB;DP=32;Dels=0.0;FS=6.057;HRun=0;HaplotypeScore=0.0;MQ=59.28;MQ0=0;MQRankSum=-0.183;QD=9.25;ReadPosRankSum=-0.549;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RAPGEF4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264111 GT:AD:DP:GQ:PL 0/1:22,10:32:99:326,0,724
2 173686798 rs2258175 A G 391.87 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=2.649;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9734;MQ=60.0;MQ0=0;MQRankSum=0.18;QD=15.07;ReadPosRankSum=1.312;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RAPGEF4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264111 GT:AD:DP:GQ:PL 0/1:14,12:26:99:422,0,492
2 173848200 rs72364676 C CT 156.73 PASS AB=0.786;AC=1;AF=0.50;AN=2;BaseQRankSum=0.352;DB;DP=44;FS=8.455;HRun=13;HaplotypeScore=222.619;IndelType=I;MQ=56.75;MQ0=0;MQRankSum=-0.117;QD=3.56;ReadPosRankSum=-0.285;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RAPGEF4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264111 GT:AD:DP:GQ:PL 0/1:30,10:44:99:196,0,347
2 173861340 rs2290374 G A 431.18 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.083;DB;DP=32;Dels=0.0;FS=2.127;HRun=4;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=-0.665;QD=13.47;ReadPosRankSum=-0.171;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RAPGEF4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264111 GT:AD:DP:GQ:PL 0/1:18,14:32:99:461,0,583
2 173861450 rs2290375 A T 41.53 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=-0.727;QD=10.38;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RAPGEF4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264111 GT:AD:DP:GQ:PL 0/1:1,3:4:30.98:72,0,31
2 173861456 rs5010643 G C 112.82 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;QD=28.2;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RAPGEF4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264111 GT:AD:DP:GQ:PL 1/1:0,4:4:12.03:145,12,0
2 173865976 rs71403346 G GT 523.64 PASS AB=0.683;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.703;DB;DP=43;FS=0.0;HRun=7;HaplotypeScore=98.48;IndelType=I;MQ=60.47;MQ0=0;MQRankSum=0.716;QD=12.18;ReadPosRankSum=0.076;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RAPGEF4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264111 GT:AD:DP:GQ:PL 0/1:23,19:43:99:563,0,382
2 173866203 rs2028934 C T 292 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.5;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RAPGEF4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264111 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:325,24,0
2 174047568 . T C 262.34 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=2.473;DP=22;Dels=0.0;FS=2.43;HRun=2;HaplotypeScore=1.891;MQ=58.95;MQ0=0;MQRankSum=0.692;QD=11.92;ReadPosRankSum=0.824;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC013461.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000338983 GT:AD:DP:GQ:PL 0/1:10,12:22:99:292,0,308
2 174055646 rs35853276 T C 1173.95 PASS AB=0.532;AC=1;AF=0.50;AN=2;BaseQRankSum=0.454;DB;DP=77;Dels=0.0;FS=0.887;HRun=0;HaplotypeScore=1.8675;MQ=59.7;MQ0=0;MQRankSum=-1.924;QD=15.25;ReadPosRankSum=-1.21;SNPEFF_AMINO_ACID_CHANGE=L147;SNPEFF_CODON_CHANGE=Ttg/Ctg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_174055623_174055651;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC013461.1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000338983 GT:AD:DP:GQ:PL 0/1:41,36:77:99:1204,0,1244
2 174062595 rs3754740 A G 90.30 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.72;QD=15.05;ReadPosRankSum=-1.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC013461.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000338983 GT:AD:DP:GQ:PL 0/1:2,4:6:49.92:120,0,50
2 174068513 rs11899707 G C 1996.47 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.57;MQ0=0;QD=30.71;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC013461.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000338983 GT:AD:DP:GQ:PL 1/1:0,65:65:99:2029,147,0
2 174085741 rs11690597 A G 84.19 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=14.03;ReadPosRankSum=0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC013461.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000338983 GT:AD:DP:GQ:PL 0/1:2,4:6:65.42:114,0,65
2 174086285 rs74417392 C T 107.07 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.3;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=56.62;MQ0=0;MQRankSum=0.55;QD=15.3;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC013461.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375213 GT:AD:DP:GQ:PL 0/1:3,4:7:99:137,0,105
2 174094345 rs10193498 A T 234.49 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.315;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.4972;MQ=58.89;MQ0=0;MQRankSum=0.675;QD=11.17;ReadPosRankSum=1.102;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC013461.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000338983 GT:AD:DP:GQ:PL 0/1:12,9:21:99:264,0,382
2 174094500 rs16861404 G A 251.30 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.908;DB;DP=24;Dels=0.0;FS=4.465;HRun=1;HaplotypeScore=0.0;MQ=59.22;MQ0=0;MQRankSum=0.381;QD=10.47;ReadPosRankSum=-0.439;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC013461.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000338983 GT:AD:DP:GQ:PL 0/1:14,10:24:99:281,0,440
2 174104211 . G A 183.44 PASS AB=0.771;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.709;DP=35;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.884;QD=5.24;ReadPosRankSum=1.041;SNPEFF_AMINO_ACID_CHANGE=G449E;SNPEFF_CODON_CHANGE=gGa/gAa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_174104132_174104224;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC013461.1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000375213 GT:AD:DP:GQ:PL 0/1:27,8:35:99:213,0,855
2 174123399 rs820008 A G 131.70 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.377;DB;DP=13;Dels=0.0;FS=2.522;HRun=0;HaplotypeScore=1.97;MQ=58.2;MQ0=0;MQRankSum=0.935;QD=10.13;ReadPosRankSum=-0.377;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC013461.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375213 GT:AD:DP:GQ:PL 0/1:7,6:13:99:162,0,247
2 174128513 rs3769148 C T 460.57 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.444;DB;DP=36;Dels=0.0;FS=5.849;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.931;QD=12.79;ReadPosRankSum=-0.802;SNPEFF_AMINO_ACID_CHANGE=S531L;SNPEFF_CODON_CHANGE=tCg/tTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_174128473_174128623;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC013461.1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000375213 GT:AD:DP:GQ:PL 0/1:21,15:36:99:491,0,751
2 174223675 rs11675433 C T 183.28 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.843;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.813;QD=15.27;ReadPosRankSum=-0.467;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDCA7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000306721 GT:AD:DP:GQ:PL 0/1:6,6:12:99:213,0,182
2 174224355 rs10168943 G A 417.69 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.81;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDCA7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000306721 GT:AD:DP:GQ:PL 1/1:0,12:12:33.11:451,33,0
2 174227876 rs767074 A G 268.61 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.899;DB;DP=30;Dels=0.0;FS=6.68;HRun=0;HaplotypeScore=0.0;MQ=59.23;MQ0=0;MQRankSum=-2.032;QD=8.95;ReadPosRankSum=0.124;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDCA7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000306721 GT:AD:DP:GQ:PL 0/1:15,15:30:99:299,0,471
2 174228418 rs4972555 C T 533.65 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.12;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDCA7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000306721 GT:AD:DP:GQ:PL 1/1:0,14:14:42.14:567,42,0
2 174228744 rs1529887 T C 264.87 PASS AB=0.591;AC=1;AF=0.50;AN=2;BaseQRankSum=1.669;DB;DP=22;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.134;QD=12.04;ReadPosRankSum=0.067;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDCA7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000306721 GT:AD:DP:GQ:PL 0/1:13,9:22:99:295,0,439
2 174229348 rs1045401 G A 77.58 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=49.96;MQ0=0;QD=15.52;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDCA7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000306721 GT:AD:DP:GQ:PL 1/1:0,5:5:9.03:110,9,0
2 174230153 rs2288993 C G 1465.07 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=60.0;MQ0=0;QD=34.88;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDCA7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000435616 GT:AD:DP:GQ:PL 1/1:0,42:42:99:1498,108,0
2 174230983 rs76436583 G GT 1643.83 PASS AC=2;AF=1.00;AN=2;DB;DP=58;FS=0.0;HRun=8;HaplotypeScore=162.0853;IndelType=I;MQ=60.9;MQ0=0;QD=28.34;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDCA7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000435616 GT:AD:DP:GQ:PL 1/1:15,40:58:99:1686,150,0
2 174232622 rs3210728 C T 170.38 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.08;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDCA7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000410101 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:203,15,0
2 174777699 rs34336652 ATC A 263.87 PASS AB=0.65;AC=1;AF=0.50;AN=2;BaseQRankSum=3.016;DB;DP=13;FS=0.0;HRun=0;HaplotypeScore=44.3325;IndelType=D;MQ=60.83;MQ0=0;MQRankSum=-0.811;QD=20.3;ReadPosRankSum=0.377;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310015 GT:AD:DP:GQ:PL 0/1:6,7:13:99:303,0,327
2 174940280 rs72920507 A G 178.12 PASS AB=0.579;AC=1;AF=0.50;AN=2;BaseQRankSum=2.849;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.61;QD=9.37;ReadPosRankSum=1.362;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OLA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284719 GT:AD:DP:GQ:PL 0/1:11,8:19:99:208,0,301
2 174943685 rs11675247 C T 329.28 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.824;DB;DP=22;Dels=0.0;FS=1.707;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.824;QD=14.97;ReadPosRankSum=0.956;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OLA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000429575 GT:AD:DP:GQ:PL 0/1:10,12:22:99:359,0,336
2 174946760 rs11558990 T C 710.20 PASS AB=0.544;AC=1;AF=0.50;AN=2;BaseQRankSum=0.761;DB;DP=57;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7825;MQ=60.0;MQ0=0;MQRankSum=0.729;QD=12.46;ReadPosRankSum=-0.393;SNPEFF_AMINO_ACID_CHANGE=Y254C;SNPEFF_CODON_CHANGE=tAt/tGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_174946652_174946792;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OLA1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000284719 GT:AD:DP:GQ:PL 0/1:31,26:57:99:740,0,880
2 174988189 rs10930639 C T 183.92 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.52;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.896;QD=16.72;ReadPosRankSum=0.278;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OLA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284719 GT:AD:DP:GQ:PL 0/1:4,7:11:99:214,0,136
2 175093901 rs6752755 C G 71.32 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.731;QD=14.26;ReadPosRankSum=-0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OLA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284719 GT:AD:DP:GQ:PL 0/1:1,4:5:30.19:101,0,30
2 175199895 rs3856434 G A 458.87 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.78;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SP9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000394967 GT:AD:DP:GQ:PL 1/1:0,14:14:36.12:492,36,0
2 175202199 . A G 41.50 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DP=5;Dels=0.0;FS=3.979;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=8.3;ReadPosRankSum=0.358;SNPEFF_AMINO_ACID_CHANGE=A462;SNPEFF_CODON_CHANGE=gcA/gcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_175200835_175203220;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SP9;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000394967 GT:AD:DP:GQ:PL 0/1:2,3:5:53.31:71,0,53
2 175215287 rs67384376 G A 372.98 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CIR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342016 GT:AD:DP:GQ:PL 1/1:0,10:10:30.10:406,30,0
2 175234613 . G A 180.24 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=1.749;DP=11;Dels=0.0;FS=3.424;HRun=2;HaplotypeScore=1.9775;MQ=60.0;MQ0=0;MQRankSum=-0.387;QD=16.39;ReadPosRankSum=2.181;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CIR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342016 GT:AD:DP:GQ:PL 0/1:5,6:11:99:210,0,137
2 175244756 rs2358666 T C 42.59 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.29;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CIR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342016 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:74,6,0
2 175262970 rs41270193 C T 738.81 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.58;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=SCRN3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000488349 GT:AD:DP:GQ:PL 1/1:0,22:22:60.19:772,60,0
2 175263335 rs34027857 C T 332.56 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.95;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=SCRN3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000435964 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:366,27,0
2 175264627 rs113297055 CTTTT C 612.62 PASS AC=2;AF=1.00;AN=2;DB;DP=27;FS=0.0;HRun=18;HaplotypeScore=168.6279;IndelType=D;MQ=51.55;MQ0=0;QD=21.88;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=SCRN3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000435964 GT:AD:DP:GQ:PL 1/1:6,21:27:54.73:655,55,0
2 175265614 rs13017310 G A 161.11 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.85;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=SCRN3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000424069 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:194,15,0
2 175265666 rs13016842 A G 370.77 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.52;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=SCRN3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000424069 GT:AD:DP:GQ:PL 1/1:0,13:13:33.10:404,33,0
2 175268763 rs2358672 A G 594.24 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=39.62;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=SCRN3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000424069 GT:AD:DP:GQ:PL 1/1:0,15:15:45.15:627,45,0
2 175287778 rs2290158 G A 1506.80 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.6006;MQ=59.46;MQ0=0;QD=35.04;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=SCRN3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272732 GT:AD:DP:GQ:PL 1/1:0,43:43:99:1540,117,0
2 175289144 rs3739150 C A 651.60 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.33;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=SCRN3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272732 GT:AD:DP:GQ:PL 1/1:0,17:17:51.15:685,51,0
2 175292364 rs17256082 T C 281 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.66;MQ0=0;QD=28.1;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR155;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392552 GT:AD:DP:GQ:PL 1/1:0,10:10:24.08:314,24,0
2 175292580 rs145699077 TTCAAATTTATCAG T 2214.24 PASS AC=2;AF=1.00;AN=2;DB;DP=28;FS=0.0;HRun=0;HaplotypeScore=362.1002;IndelType=D;MQ=39.93;MQ0=0;QD=79.08;SNPEFF_EFFECT=FRAME_SHIFT;SNPEFF_EXON_ID=exon_2_175292441_175294303;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=SCRN3;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000272732 GT:AD:DP:GQ:PL 1/1:3,25:28:75.25:2256,75,0
2 175300997 rs6757461 G A 3224.61 PASS AC=2;AF=1.00;AN=2;DB;DP=95;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=59.51;MQ0=0;QD=33.94;SNPEFF_AMINO_ACID_CHANGE=N820;SNPEFF_CODON_CHANGE=aaC/aaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_175299872_175301144;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR155;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000295500 GT:AD:DP:GQ:PL 1/1:0,95:95:99:3258,241,0
2 175306691 rs35594437 G A 248.29 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.04;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR155;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295500 GT:AD:DP:GQ:PL 1/1:0,8:8:21.07:281,21,0
2 175309792 rs34291465 T C 916.25 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.54;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR155;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295500 GT:AD:DP:GQ:PL 1/1:0,30:30:72.23:949,72,0
2 175311194 rs1562756 T A 486.40 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.43;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR155;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295500 GT:AD:DP:GQ:PL 1/1:0,15:15:42.13:519,42,0
2 175318387 . C CA 461.02 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.326;DP=49;FS=0.0;HRun=8;HaplotypeScore=712.8805;IndelType=I;MQ=35.58;MQ0=0;MQRankSum=-1.117;QD=9.41;ReadPosRankSum=-0.698;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR155;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295500 GT:AD:DP:GQ:PL 1/1:32,11:49:76.53:503,77,0
2 175335076 rs2358637 G T 759.27 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.96;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR155;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295500 GT:AD:DP:GQ:PL 1/1:0,20:20:57.19:792,57,0
2 175431707 rs2163236 C G 490.84 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.195;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.391;QD=18.18;ReadPosRankSum=-1.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WIPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409415 GT:AD:DP:GQ:PL 0/1:12,15:27:99:521,0,414
2 175432056 rs2303891 G A 131.03 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.729;DB;DP=9;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.876;QD=14.56;ReadPosRankSum=0.361;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WIPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409415 GT:AD:DP:GQ:PL 0/1:4,5:9:99:161,0,139
2 175432098 rs3815969 G A 85.30 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.731;QD=17.06;ReadPosRankSum=-0.731;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WIPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409415 GT:AD:DP:GQ:PL 0/1:1,4:5:26.20:115,0,26
2 175436940 rs4972450 G A 1673.94 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.16;SNPEFF_AMINO_ACID_CHANGE=P198L;SNPEFF_CODON_CHANGE=cCg/cTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_175436404_175437174;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WIPF1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000272746 GT:AD:DP:GQ:PL 1/1:0,49:49:99:1707,126,0
2 175439512 rs1367218 T C 896.79 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.92;MQ0=0;QD=38.99;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WIPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000436221 GT:AD:DP:GQ:PL 1/1:0,23:23:69.22:930,69,0
2 175439536 rs12624277 G A 745.30 PASS AB=0.421;AC=1;AF=0.50;AN=2;BaseQRankSum=5.011;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=57.53;MQ0=0;MQRankSum=0.281;QD=19.61;ReadPosRankSum=0.695;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WIPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000436221 GT:AD:DP:GQ:PL 0/1:16,22:38:99:775,0,368
2 175439681 rs71407130 T TA 438.37 PASS AB=0.711;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.492;DB;DP=64;FS=2.861;HRun=13;HaplotypeScore=225.5049;IndelType=I;MQ=58.41;MQ0=0;MQRankSum=-0.009;QD=6.85;ReadPosRankSum=-0.277;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WIPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000436221 GT:AD:DP:GQ:PL 0/1:35,25:64:99:477,0,384
2 175440316 rs11675139 G A 277.82 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.236;DB;DP=18;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=58.78;MQ0=0;MQRankSum=-0.53;QD=14.62;ReadPosRankSum=-0.53;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WIPF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272746 GT:AD:DP:GQ:PL 0/1:9,9:18:99:308,0,298
2 175584977 . T C 39.66 MQFilter40;QDFilter2 AB=0.758;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.203;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=15.68;MQ0=24;MQRankSum=0.573;QD=1.2;ReadPosRankSum=-0.573;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=AC018890.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000316450 GT:AD:DP:GQ:PL 0/1:25,8:33:69.65:70,0,124
2 175584979 rs13020091 C G 41.73 MQFilter40;QDFilter2 AB=0.727;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.92;DB;DP=33;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=15.2;MQ0=25;MQRankSum=0.684;QD=1.26;ReadPosRankSum=-0.684;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=AC018890.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000316450 GT:AD:DP:GQ:PL 0/1:24,9:33:71.72:72,0,100
2 175613115 rs2255918 G A 216.52 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.09;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHRNA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409323 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:249,18,0
2 175613169 rs2305414 A C 126.09 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.52;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHRNA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409323 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:159,12,0
2 175613600 rs2646159 T C 509.81 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.99;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHRNA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409323 GT:AD:DP:GQ:PL 1/1:0,15:15:39.13:543,39,0
2 175614908 rs67309103 CAA C 185.87 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.0;DB;DP=22;FS=0.0;HRun=17;HaplotypeScore=155.6979;IndelType=D;MQ=45.77;MQ0=0;MQRankSum=-0.579;QD=8.45;ReadPosRankSum=0.579;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHRNA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409323 GT:AD:DP:GQ:PL 1/1:8,10:22:25.90:228,26,0
2 175622178 rs11327107 TG T 292.84 PASS AC=2;AF=1.00;AN=2;DB;DP=9;FS=0.0;HRun=3;HaplotypeScore=27.2104;IndelType=D;MQ=60.0;MQ0=0;QD=32.54;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHRNA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000261007 GT:AD:DP:GQ:PL 1/1:0,9:9:27.08:335,27,0
2 175622788 rs2646164 G A 1101.46 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.91;MQ0=0;QD=35.53;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHRNA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000261007 GT:AD:DP:GQ:PL 1/1:0,31:31:84.25:1134,84,0
2 175622907 rs2600687 T C 411.76 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.89;MQ0=0;QD=31.67;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHRNA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000261007 GT:AD:DP:GQ:PL 1/1:0,13:13:36.11:445,36,0
2 175624107 rs34695580 GA G 1285.66 PASS AC=2;AF=1.00;AN=2;DB;DP=50;FS=0.0;HRun=9;HaplotypeScore=156.3334;IndelType=D;MQ=61.77;MQ0=0;QD=25.71;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHRNA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000261007 GT:AD:DP:GQ:PL 1/1:1,49:50:99:1328,147,0
2 175629021 rs7560774 C A 107.79 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.56;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHRNA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000261007 GT:AD:DP:GQ:PL 1/1:0,5:5:12.02:140,12,0
2 175665215 rs2600673 A G 77.95 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.231;QD=15.59;ReadPosRankSum=0.358;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409089 GT:AD:DP:GQ:PL 0/1:2,3:5:66.24:108,0,66
2 175666656 rs2646153 G A 521.29 PASS AB=0.568;AC=1;AF=0.50;AN=2;BaseQRankSum=0.506;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.935;QD=14.09;ReadPosRankSum=0.628;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295497 GT:AD:DP:GQ:PL 0/1:21,16:37:99:551,0,750
2 175677022 rs12613075 C T 4014.15 PASS AC=2;AF=1.00;AN=2;DB;DP=121;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.5362;MQ=59.81;MQ0=0;QD=33.17;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000444573 GT:AD:DP:GQ:PL 1/1:0,121:121:99:4014,292,0
2 175711942 rs14228 C T 712.52 PASS AB=0.511;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.851;DB;DP=45;Dels=0.0;FS=3.01;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.715;QD=15.83;ReadPosRankSum=-0.352;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_2_175711608_175712277;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHN1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000295497 GT:AD:DP:GQ:PL 0/1:23,22:45:99:743,0,755
2 176043618 rs268223 C T 128.76 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.19;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP5G3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472782 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:161,12,0
2 176044136 rs268224 A T 87.94 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.31;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP5G3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472782 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:120,9,0
2 176046257 rs268227 C T 122.63 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.66;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP5G3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284727 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:155,12,0
2 176190259 rs6729868 T C 2096.82 PASS AC=2;AF=1.00;AN=2;DB;DP=73;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=49.38;MQ0=0;QD=28.72;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AC096649.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000438963 GT:AD:DP:GQ:PL 1/1:0,72:73:99:2130,180,0
2 176857275 rs2885117 T C 134.56 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=0.198;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.62;MQ0=0;MQRankSum=1.495;QD=19.22;ReadPosRankSum=0.198;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA1715;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466445 GT:AD:DP:GQ:PL 0/1:2,5:7:24.19:165,0,24
2 176947268 rs72919090 G C 98.75 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.678;DB;DP=11;Dels=0.0;FS=3.09;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.896;QD=8.98;ReadPosRankSum=-0.278;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EVX2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000308618 GT:AD:DP:GQ:PL 0/1:7,4:11:99:129,0,214
2 176983598 rs143151088 CAAAACCAAAACA C 433.41 PASS AB=0.696;AC=1;AF=0.50;AN=2;BaseQRankSum=3.281;DB;DP=16;FS=0.0;HRun=0;HaplotypeScore=167.2286;IndelType=D;MQ=59.46;MQ0=0;MQRankSum=0.423;QD=27.09;ReadPosRankSum=0.635;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=HOXD10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000249501 GT:AD:DP:GQ:PL 0/1:9,7:16:99:472,0,1123
2 176989023 rs711822 C T 71.10 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=2.82;DB;DP=24;Dels=0.0;FS=0.0;HRun=11;HaplotypeScore=0.9159;MQ=58.05;MQ0=0;MQRankSum=-0.141;QD=2.96;ReadPosRankSum=-0.916;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC009336.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313266 GT:AD:DP:GQ:PL 0/1:15,9:24:99:101,0,451
2 176996023 rs4972804 C T 1228.84 PASS AB=0.579;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.769;DB;DP=121;Dels=0.0;FS=2.061;HRun=0;HaplotypeScore=5.511;MQ=59.66;MQ0=0;MQRankSum=-0.134;QD=10.16;ReadPosRankSum=0.816;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HOXD8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313173 GT:AD:DP:GQ:PL 0/1:70,51:121:99:1259,0,2342
2 177202070 rs818363 T C 30.18 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=0.198;DB;DP=7;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.922;QD=4.31;ReadPosRankSum=-0.922;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MTX2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000249442 GT:AD:DP:GQ:PL 0/1:5,2:7:60.17:60,0,189
2 177202115 rs818364 A G 225.48 PASS AB=0.591;AC=1;AF=0.50;AN=2;BaseQRankSum=0.467;DB;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=-0.935;QD=10.25;ReadPosRankSum=-0.067;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MTX2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000249442 GT:AD:DP:GQ:PL 0/1:13,9:22:99:255,0,442
2 177465595 rs17343601 T C 1036.02 PASS AB=0.492;AC=1;AF=0.50;AN=2;BaseQRankSum=4.406;DB;DP=63;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.337;QD=16.44;ReadPosRankSum=0.818;SNPEFF_EFFECT=INTERGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 0/1:31,32:63:99:1066,0,1024
2 177502117 rs2594945 T A 52.75 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.58;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AC017048.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295549 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:84,6,0
2 177502651 rs2969357 G C 36.43 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.22;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AC017048.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295549 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:68,6,0
2 178085137 rs9068 G A 443.43 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.052;DB;DP=35;Dels=0.0;FS=3.003;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.472;QD=12.67;ReadPosRankSum=0.017;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HNRNPA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392524 GT:AD:DP:GQ:PL 0/1:21,14:35:99:473,0,669
2 178298861 rs76827775 G A 51.16 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGPS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264167 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
2 178301428 rs3754989 C T 1079.69 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.99;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGPS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264167 GT:AD:DP:GQ:PL 1/1:0,30:30:81.27:1113,81,0
2 178307330 rs4893951 C T 86.50 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.83;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGPS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460342 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:119,9,0
2 178326838 rs1979059 C G 147.35 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.47;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGPS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264167 GT:AD:DP:GQ:PL 1/1:0,5:5:15.04:180,15,0
2 178326847 rs1979058 G A 117.69 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.731;QD=23.54;ReadPosRankSum=0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGPS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264167 GT:AD:DP:GQ:PL 0/1:1,4:5:26.18:148,0,26
2 178358072 rs1348849 C T 100.82 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.937;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=14.4;ReadPosRankSum=-0.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGPS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264167 GT:AD:DP:GQ:PL 0/1:3,4:7:99:131,0,101
2 178362572 rs12468046 G A 256.10 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.01;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGPS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264167 GT:AD:DP:GQ:PL 1/1:0,8:8:21.07:289,21,0
2 178378452 rs2364854 T A 293.84 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.73;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGPS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264167 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:327,24,0
2 178402786 rs3213945 G T 748.42 PASS AB=0.569;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.178;DB;DP=58;Dels=0.0;FS=2.379;HRun=5;HaplotypeScore=0.7887;MQ=59.6;MQ0=0;MQRankSum=0.361;QD=12.9;ReadPosRankSum=1.664;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGPS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264167 GT:AD:DP:GQ:PL 0/1:33,25:58:99:778,0,1070
2 178417142 rs11694988 C T 3825.45 PASS AC=2;AF=1.00;AN=2;DB;DP=104;DS;Dels=0.01;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.56;MQ0=0;QD=36.43;SNPEFF_AMINO_ACID_CHANGE=R117H;SNPEFF_CODON_CHANGE=cGc/cAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_178414973_178417742;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC30B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000408939 GT:AD:DP:GQ:PL 1/1:0,104:104:99:3825,286,0
2 178417225 rs11695035 C T 1467.52 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=58.95;MQ0=0;QD=36.69;SNPEFF_AMINO_ACID_CHANGE=L42;SNPEFF_CODON_CHANGE=ctG/ctA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_178414890_178417314;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC30B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000500357 GT:AD:DP:GQ:PL 1/1:0,40:40:99:1501,117,0
2 178481818 rs10497497 G T 5793.01 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.712;DB;DP=178;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.5666;MQ=47.43;MQ0=1;MQRankSum=-1.237;QD=32.55;ReadPosRankSum=1.079;SNPEFF_AMINO_ACID_CHANGE=R538;SNPEFF_CODON_CHANGE=Cgg/Agg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_178479026_178483694;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC30A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000355689 GT:AD:DP:GQ:PL 1/1:1,176:178:99:5793,490,0
2 178482094 rs28630685 C T 1978.46 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=76;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=25.93;MQ0=15;QD=26.03;SNPEFF_AMINO_ACID_CHANGE=V446I;SNPEFF_CODON_CHANGE=Gtc/Atc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_178479026_178483694;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC30A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000355689 GT:AD:DP:GQ:PL 1/1:0,76:76:99:2011,183,0
2 178482594 rs61742858 G T 1498.13 PASS AB=0.53;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.164;DB;DP=115;Dels=0.0;FS=8.675;HRun=0;HaplotypeScore=1.1567;MQ=54.87;MQ0=0;MQRankSum=1.836;QD=13.03;ReadPosRankSum=-1.4;SNPEFF_AMINO_ACID_CHANGE=P279H;SNPEFF_CODON_CHANGE=cCc/cAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_178479026_178483694;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC30A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000355689 GT:AD:DP:GQ:PL 0/1:61,54:115:99:1528,0,1822
2 178482596 rs3813257 T G 1699.94 PASS AB=0.46;AC=1;AF=0.50;AN=2;BaseQRankSum=3.744;DB;DP=113;Dels=0.0;FS=7.303;HRun=3;HaplotypeScore=1.1567;MQ=54.78;MQ0=0;MQRankSum=-0.623;QD=15.04;ReadPosRankSum=0.889;SNPEFF_AMINO_ACID_CHANGE=P278;SNPEFF_CODON_CHANGE=ccA/ccC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_178479026_178483694;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC30A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000355689 GT:AD:DP:GQ:PL 0/1:52,61:113:99:1730,0,1562
2 178494012 rs6734683 C G 154.78 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.827;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.45;MQ0=0;MQRankSum=-0.412;QD=10.32;ReadPosRankSum=0.53;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDE11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000449286 GT:AD:DP:GQ:PL 0/1:9,6:15:99:185,0,295
2 178494173 rs3830637 G GGGA 2436.15 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.975;DB;DP=98;FS=2.817;HRun=0;HaplotypeScore=326.0975;IndelType=I;MQ=58.11;MQ0=0;MQRankSum=-0.012;QD=24.86;ReadPosRankSum=-0.158;SNPEFF_AMINO_ACID_CHANGE=S112SP;SNPEFF_CODON_CHANGE=tcc/tcTCCc;SNPEFF_EFFECT=CODON_CHANGE_PLUS_CODON_INSERTION;SNPEFF_EXON_ID=exon_2_178493340_178494290;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDE11A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000450799 GT:AD:DP:GQ:PL 0/1:56,41:98:99:2475,0,2003
2 178528703 rs13025391 C T 1151.03 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.38;MQ0=0;QD=31.11;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDE11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000286063 GT:AD:DP:GQ:PL 1/1:0,37:37:87.27:1184,87,0
2 178528789 rs13025904 G A 342.79 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.87;MQ0=0;QD=31.16;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDE11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000286063 GT:AD:DP:GQ:PL 1/1:0,11:11:30.09:376,30,0
2 178534110 rs2222711 G T 511.59 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=1.285;DB;DP=21;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.895;QD=24.36;ReadPosRankSum=0.662;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDE11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466790 GT:AD:DP:GQ:PL 0/1:6,15:21:99:542,0,167
2 178534324 rs6433687 A G 2487.24 PASS AC=2;AF=1.00;AN=2;DB;DP=69;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.12;MQ0=0;QD=36.05;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDE11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000286063 GT:AD:DP:GQ:PL 1/1:0,69:69:99:2520,187,0
2 178534534 rs1358327 G C 169.10 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=56.04;MQ0=0;QD=28.18;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDE11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000286063 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:202,15,0
2 178540293 rs3770016 A G 683.34 PASS AB=0.371;AC=1;AF=0.50;AN=2;BaseQRankSum=0.085;DB;DP=35;Dels=0.0;FS=1.391;HRun=0;HaplotypeScore=0.0;MQ=59.34;MQ0=0;MQRankSum=-0.188;QD=19.52;ReadPosRankSum=1.178;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDE11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000286063 GT:AD:DP:GQ:PL 0/1:13,22:35:99:713,0,390
2 178545403 rs2886423 T C 33.49 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=11.16;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDE11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000286063 GT:AD:DP:GQ:PL 0/1:1,2:3:30.29:63,0,30
2 178545713 rs4538242 C T 289.65 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.39;MQ0=0;QD=32.18;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDE11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000286063 GT:AD:DP:GQ:PL 1/1:0,9:9:24.08:323,24,0
2 178561865 rs2365623 T C 46.65 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDE11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000286063 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:78,6,0
2 178561947 rs2886424 G C 195.90 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.572;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.067;QD=24.49;ReadPosRankSum=-1.067;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDE11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000286063 GT:AD:DP:GQ:PL 0/1:2,6:8:57.88:226,0,58
2 178565815 rs10201180 T C 343.34 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.907;DB;DP=28;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.17;MQ0=0;MQRankSum=0.942;QD=12.26;ReadPosRankSum=-0.207;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDE11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000286063 GT:AD:DP:GQ:PL 0/1:14,14:28:99:373,0,442
2 178576681 rs13428806 G A 196.76 PASS AB=0.143;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.742;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.742;QD=28.11;ReadPosRankSum=-0.742;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDE11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000286063 GT:AD:DP:GQ:PL 0/1:1,6:7:21.58:227,0,22
2 178633945 rs34543540 A C 193.64 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.276;DB;DP=14;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9789;MQ=60.0;MQ0=0;MQRankSum=-0.299;QD=13.83;ReadPosRankSum=0.299;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDE11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000286063 GT:AD:DP:GQ:PL 0/1:7,7:14:99:224,0,245
2 178681716 rs1438059 G C 726.73 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.28;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDE11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000286063 GT:AD:DP:GQ:PL 1/1:0,24:24:66.16:760,66,0
2 178769992 rs2695096 T C 502.03 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.47;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDE11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000286063 GT:AD:DP:GQ:PL 1/1:0,15:15:42.13:535,42,0
2 178936373 rs1435573 T G 2151.92 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.87;SNPEFF_AMINO_ACID_CHANGE=T264;SNPEFF_CODON_CHANGE=acA/acC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_178936253_178937482;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDE11A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000286063 GT:AD:DP:GQ:PL 1/1:0,60:60:99:2185,169,0
2 178936614 rs6433711 C T 1842.96 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.57;MQ0=0;QD=34.13;SNPEFF_AMINO_ACID_CHANGE=R184Q;SNPEFF_CODON_CHANGE=cGg/cAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_178936253_178937482;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDE11A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000286063 GT:AD:DP:GQ:PL 1/1:0,54:54:99:1876,138,0
2 178936993 . TA T 283.73 PASS AB=0.63;AC=1;AF=0.50;AN=2;BaseQRankSum=3.281;DP=17;FS=2.246;HRun=1;HaplotypeScore=46.1237;IndelType=D;MQ=61.26;MQ0=0;MQRankSum=0.106;QD=16.69;ReadPosRankSum=-0.635;SNPEFF_EFFECT=FRAME_SHIFT;SNPEFF_EXON_ID=exon_2_178936253_178937482;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDE11A;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000286063 GT:AD:DP:GQ:PL 0/1:7,10:17:99:323,0,288
2 178977620 rs2276622 C G 105.35 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=1.036;DB;DP=11;Dels=0.0;FS=3.522;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.365;QD=9.58;ReadPosRankSum=-1.133;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=RBM45;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000286070 GT:AD:DP:GQ:PL 0/1:7,4:11:99:135,0,170
2 178990941 rs147830313 CAT C 295.59 PASS AB=0.719;AC=1;AF=0.50;AN=2;BaseQRankSum=3.162;DB;DP=23;FS=0.0;HRun=0;HaplotypeScore=87.2903;IndelType=D;MQ=58.99;MQ0=0;MQRankSum=-0.32;QD=12.85;ReadPosRankSum=1.03;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=RBM45;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000493048 GT:AD:DP:GQ:PL 0/1:14,9:23:99:335,0,611
2 179185051 rs12478760 A G 552.63 PASS AB=0.475;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.377;DB;DP=40;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=0.132;QD=13.82;ReadPosRankSum=-0.541;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OSBPL6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000190611 GT:AD:DP:GQ:PL 0/1:19,21:40:99:583,0,610
2 179185282 rs78476484 G A 152.71 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.191;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.467;QD=12.73;ReadPosRankSum=-0.583;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OSBPL6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000190611 GT:AD:DP:GQ:PL 0/1:6,6:12:99:183,0,212
2 179189012 rs1434083 C T 269.70 PASS AB=0.353;AC=1;AF=0.50;AN=2;BaseQRankSum=2.764;DB;DP=17;Dels=0.0;FS=2.884;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.352;QD=15.86;ReadPosRankSum=-0.854;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OSBPL6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000190611 GT:AD:DP:GQ:PL 0/1:6,11:17:99:300,0,179
2 179192684 rs76724983 A C 91.49 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.5;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OSBPL6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000190611 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:124,9,0
2 179196233 rs12471790 G A 502.13 PASS AB=0.459;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.229;DB;DP=37;Dels=0.0;FS=5.412;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=2.027;QD=13.57;ReadPosRankSum=-0.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OSBPL6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000190611 GT:AD:DP:GQ:PL 0/1:17,20:37:99:532,0,602
2 179197251 rs12464806 A G 164.33 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=0.412;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7885;MQ=60.0;MQ0=0;MQRankSum=0.177;QD=10.96;ReadPosRankSum=-0.884;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OSBPL6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000190611 GT:AD:DP:GQ:PL 0/1:9,6:15:99:194,0,264
2 179200947 rs6760059 C T 1476.68 PASS AB=0.436;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.068;DB;DP=78;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=5.3627;MQ=59.41;MQ0=0;MQRankSum=1.92;QD=18.93;ReadPosRankSum=0.331;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OSBPL6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477097 GT:AD:DP:GQ:PL 0/1:34,44:78:99:1507,0,939
2 179203797 rs1434087 G A 1109.83 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.63;SNPEFF_AMINO_ACID_CHANGE=S269;SNPEFF_CODON_CHANGE=tcG/tcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_179203718_179203821;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OSBPL6;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000315022 GT:AD:DP:GQ:PL 1/1:0,33:33:81.27:1143,81,0
2 179204568 rs9646740 C T 159.02 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=1.495;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.198;QD=22.72;ReadPosRankSum=0.922;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OSBPL6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000190611 GT:AD:DP:GQ:PL 0/1:2,5:7:14.44:189,0,14
2 179208974 rs12464380 G A 236.63 PASS AB=0.56;AC=1;AF=0.50;AN=2;BaseQRankSum=3.37;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=59.28;MQ0=0;MQRankSum=-0.598;QD=9.1;ReadPosRankSum=-0.031;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OSBPL6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000190611 GT:AD:DP:GQ:PL 0/1:14,11:26:99:267,0,377
2 179213792 rs1812550 T C 217.91 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.289;DB;DP=12;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.239;QD=18.16;ReadPosRankSum=0.289;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OSBPL6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000190611 GT:AD:DP:GQ:PL 0/1:4,8:12:99:248,0,133
2 179213872 rs964165 C T 949.17 PASS AB=0.442;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.169;DB;DP=52;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=59.56;MQ0=0;MQRankSum=-1.419;QD=18.25;ReadPosRankSum=0.24;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OSBPL6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000190611 GT:AD:DP:GQ:PL 0/1:23,29:52:99:979,0,808
2 179238866 rs36060642 A G 934.32 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OSBPL6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000190611 GT:AD:DP:GQ:PL 1/1:0,25:25:69.23:967,69,0
2 179247468 rs77450626 C T 257.67 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.289;DB;DP=12;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.6;QD=21.47;ReadPosRankSum=-1.468;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OSBPL6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000190611 GT:AD:DP:GQ:PL 0/1:4,8:12:99:288,0,133
2 179250397 rs2276617 A G 100.44 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=0.55;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.62;MQ0=0;MQRankSum=1.754;QD=14.35;ReadPosRankSum=-0.55;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OSBPL6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357080 GT:AD:DP:GQ:PL 0/1:3,4:7:60.68:130,0,61
2 179258923 rs919177 C T 779.77 PASS AB=0.343;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.651;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.261;QD=22.28;ReadPosRankSum=-0.851;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OSBPL6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000190611 GT:AD:DP:GQ:PL 0/1:12,23:35:99:810,0,394
2 179260226 . C T 528.98 PASS AB=0.512;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.013;DP=41;Dels=0.0;FS=2.755;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.222;QD=12.9;ReadPosRankSum=-1.526;SNPEFF_AMINO_ACID_CHANGE=T879;SNPEFF_CODON_CHANGE=acC/acT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_179260178_179260499;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OSBPL6;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000359685 GT:AD:DP:GQ:PL 0/1:21,20:41:99:559,0,689
2 179260382 rs2304340 A G 1714.85 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.5731;MQ=51.17;MQ0=0;QD=29.07;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OSBPL6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315022 GT:AD:DP:GQ:PL 1/1:0,59:59:99:1748,153,0
2 179296821 rs3997876 G A 326.83 PASS AB=0.696;AC=1;AF=0.50;AN=2;BaseQRankSum=1.468;DB;DP=46;Dels=0.0;FS=5.319;HRun=1;HaplotypeScore=0.9665;MQ=56.7;MQ0=0;MQRankSum=-2.447;QD=7.11;ReadPosRankSum=1.301;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRKRA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474793 GT:AD:DP:GQ:PL 0/1:32,14:46:99:357,0,890
2 179296984 . G A 68.14 QDFilter2 AB=0.778;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.096;DP=45;Dels=0.0;FS=8.624;HRun=0;HaplotypeScore=0.0;MQ=55.87;MQ0=0;MQRankSum=-3.563;QD=1.51;ReadPosRankSum=-4.518;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRKRA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474793 GT:AD:DP:GQ:PL 0/1:35,10:45:98.13:98,0,1159
2 179300971 rs62176107 G A 667.89 PASS AB=0.756;AC=1;AF=0.50;AN=2;BaseQRankSum=1.576;DB;DP=135;Dels=0.0;FS=1.631;HRun=1;HaplotypeScore=0.6651;MQ=55.16;MQ0=0;MQRankSum=-6.087;QD=4.95;ReadPosRankSum=2.263;SNPEFF_AMINO_ACID_CHANGE=L116;SNPEFF_CODON_CHANGE=Ctg/Ttg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_179300872_179301046;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRKRA;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000438687 GT:AD:DP:GQ:PL 0/1:102,33:135:99:698,0,3242
2 179300979 rs77419724 A T 621.91 PASS AB=0.76;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.501;DB;DP=129;Dels=0.0;FS=2.715;HRun=1;HaplotypeScore=0.6651;MQ=55.27;MQ0=0;MQRankSum=-6.185;QD=4.82;ReadPosRankSum=1.802;SNPEFF_AMINO_ACID_CHANGE=I113N;SNPEFF_CODON_CHANGE=aTc/aAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_179300872_179301046;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRKRA;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000438687 GT:AD:DP:GQ:PL 0/1:98,31:129:99:652,0,3093
2 179315734 rs141354030 GGC G 235.60 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=0.747;DB;DP=8;FS=9.031;HRun=0;HaplotypeScore=84.3657;IndelType=D;MQ=37.52;MQ0=0;MQRankSum=0.747;QD=29.45;ReadPosRankSum=0.747;SNPEFF_EFFECT=FRAME_SHIFT;SNPEFF_EXON_ID=exon_2_179315693_179315958;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRKRA;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000325748 GT:AD:DP:GQ:PL 0/1:2,6:8:29:275,0,29
2 179315757 rs75383501 T G 246.13 MQFilter40 AB=0.111;AC=1;AF=0.50;AN=2;BaseQRankSum=0.751;DB;DP=9;Dels=0.0;FS=9.031;HRun=2;HaplotypeScore=0.9983;MQ=37.47;MQ0=0;MQRankSum=0.751;QD=27.35;ReadPosRankSum=-0.751;SNPEFF_AMINO_ACID_CHANGE=M1L;SNPEFF_CODON_CHANGE=Atg/Ctg;SNPEFF_EFFECT=NON_SYNONYMOUS_START;SNPEFF_EXON_ID=exon_2_179315693_179315958;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRKRA;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000325748 GT:AD:DP:GQ:PL 0/1:1,8:9:6.37:276,0,6
2 179315781 rs62176113 C T 384.49 MQFilter40 AC=2;AF=1.00;AN=2;BaseQRankSum=1.448;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=36.22;MQ0=0;MQRankSum=0.869;QD=29.58;ReadPosRankSum=-0.29;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRKRA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463882 GT:AD:DP:GQ:PL 1/1:2,11:13:33.10:417,33,0
2 179319391 rs6753709 G A 103.65 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.731;QD=20.73;ReadPosRankSum=-0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DFNB59;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375129 GT:AD:DP:GQ:PL 0/1:1,4:5:27.61:134,0,28
2 179323117 rs2288322 C T 315.31 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.39;MQ0=0;QD=35.03;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DFNB59;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375129 GT:AD:DP:GQ:PL 1/1:0,9:9:27.08:348,27,0
2 179325735 rs17304212 C G 1846.25 PASS AB=0.422;AC=1;AF=0.50;AN=2;BaseQRankSum=0.187;DB;DP=109;Dels=0.0;FS=3.683;HRun=1;HaplotypeScore=0.0;MQ=57.19;MQ0=0;MQRankSum=0.144;QD=16.94;ReadPosRankSum=0.463;SNPEFF_AMINO_ACID_CHANGE=R265G;SNPEFF_CODON_CHANGE=Cgt/Ggt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_179325709_179326001;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DFNB59;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000375129 GT:AD:DP:GQ:PL 0/1:46,63:109:99:1876,0,1382
2 179330468 rs71867054 TA T 57.98 PASS AB=0.706;AC=1;AF=0.50;AN=2;BaseQRankSum=2.181;DB;DP=12;FS=3.424;HRun=11;HaplotypeScore=39.0854;IndelType=D;MQ=58.05;MQ0=0;MQRankSum=-0.387;QD=4.83;ReadPosRankSum=-0.387;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DFNB59;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000375129 GT:AD:DP:GQ:PL 0/1:7,5:12:97.01:97,0,128
2 179337628 . GT G 91.76 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.248;DP=16;FS=0.0;HRun=16;HaplotypeScore=187.0237;IndelType=D;MQ=45.26;MQ0=0;MQRankSum=-1.488;QD=5.74;ReadPosRankSum=-0.992;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FKBP7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000350591 GT:AD:DP:GQ:PL 1/1:8,6:16:11.27:133,11,0
2 179341953 rs6704545 G A 650.47 PASS AB=0.549;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.205;DB;DP=51;Dels=0.0;FS=4.784;HRun=5;HaplotypeScore=1.8218;MQ=59.55;MQ0=0;MQRankSum=-1.391;QD=12.75;ReadPosRankSum=0.899;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FKBP7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000350591 GT:AD:DP:GQ:PL 0/1:28,23:51:99:680,0,883
2 179350252 rs115094730 G A 161.53 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.068;DB;DP=14;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.33;MQ0=0;MQRankSum=-0.201;QD=11.54;ReadPosRankSum=-0.201;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEKHA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234453 GT:AD:DP:GQ:PL 0/1:7,7:14:99:192,0,237
2 179363807 rs71393429 A AT 222.68 PASS AC=2;AF=1.00;AN=2;DB;DP=9;FS=0.0;HRun=9;HaplotypeScore=48.8546;IndelType=I;MQ=57.39;MQ0=0;QD=24.74;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEKHA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000453653 GT:AD:DP:GQ:PL 1/1:1,8:9:24.06:265,24,0
2 179366093 rs2303537 C T 576.40 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.02;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEKHA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234453 GT:AD:DP:GQ:PL 1/1:0,16:16:45.15:609,45,0
2 179407763 rs58609542 CT C 93.57 QDFilter2 AB=0.843;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.968;DB;DP=204;FS=2.631;HRun=15;HaplotypeScore=1817.8268;IndelType=D;MQ=49.94;MQ0=0;MQRankSum=3.05;QD=0.46;ReadPosRankSum=2.814;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342175 GT:AD:DP:GQ:PL 0/1:154,33:204:99:133,0,2233
2 179419223 . G C 289.49 FSFilter60 AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.945;DP=96;Dels=0.0;FS=84.262;HRun=2;HaplotypeScore=8.582;MQ=47.87;MQ0=0;MQRankSum=-3.295;QD=2.98;ReadPosRankSum=-1.508;SNPEFF_AMINO_ACID_CHANGE=G20549;SNPEFF_CODON_CHANGE=ggC/ggG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_179419180_179419479;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTN;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000356127 GT:AD:DP:GQ:PL 0/1:56,40:96:99:319,0,1344
2 179424048 rs55972010 T C 1656.80 PASS AB=0.582;AC=1;AF=0.50;AN=2;BaseQRankSum=1.756;DB;DP=153;Dels=0.0;FS=2.202;HRun=0;HaplotypeScore=8.2146;MQ=59.85;MQ0=0;MQRankSum=1.849;QD=10.83;ReadPosRankSum=-0.629;SNPEFF_AMINO_ACID_CHANGE=V19869;SNPEFF_CODON_CHANGE=gtA/gtG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_179424038_179425388;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTN;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000356127 GT:AD:DP:GQ:PL 0/1:89,64:153:99:1687,0,2886
2 179442292 rs148238009 TA T 1833.31 PASS AC=2;AF=1.00;AN=2;DB;DP=79;FS=0.0;HRun=10;HaplotypeScore=221.2817;IndelType=D;MQ=60.55;MQ0=0;QD=23.21;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342175 GT:AD:DP:GQ:PL 1/1:5,74:79:99:1875,216,0
2 179444768 rs4145333 C G 5793.23 PASS AC=2;AF=1.00;AN=2;DB;DP=167;Dels=0.01;FS=0.0;HRun=1;HaplotypeScore=2.9162;MQ=59.61;MQ0=0;QD=34.48;SNPEFF_AMINO_ACID_CHANGE=A13349P;SNPEFF_CODON_CHANGE=Gct/Cct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_179444666_179444956;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTN;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000356127 GT:AD:DP:GQ:PL 1/1:0,167:167:99:5793,424,0
2 179482347 rs72677235 CTAAG C 798.85 PASS AC=2;AF=1.00;AN=2;DB;DP=17;FS=0.0;HRun=0;HaplotypeScore=98.3012;IndelType=D;MQ=48.77;MQ0=0;QD=46.99;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342175 GT:AD:DP:GQ:PL 1/1:1,16:17:45.15:841,45,0
2 179498042 rs6723526 T C 5027.52 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.43;DB;DP=153;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.6519;MQ=59.4;MQ0=0;MQRankSum=-1.709;QD=32.86;ReadPosRankSum=1.569;SNPEFF_AMINO_ACID_CHANGE=K11752E;SNPEFF_CODON_CHANGE=Aaa/Gaa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_179497914_179498053;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTN;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000342992 GT:AD:DP:GQ:PL 1/1:1,151:153:99:5028,353,0
2 179518911 rs139167585 TAGC T 6083.37 PASS AC=2;AF=1.00;AN=2;DB;DP=123;FS=0.0;HRun=0;HaplotypeScore=558.6095;IndelType=D;MQ=48.51;MQ0=0;QD=43.77;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342175 GT:AD:DP:GQ:PL 1/1:2,137:123:99:6083,363,0
2 179566146 rs2251987 T G 887.74 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.88;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342175 GT:AD:DP:GQ:PL 1/1:0,27:27:78.23:921,78,0
2 179578108 rs71393436 T TACAAA 1018.68 PASS AB=0.717;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.218;DB;DP=38;FS=0.0;HRun=0;HaplotypeScore=161.0391;IndelType=I;MQ=61.1;MQ0=0;MQRankSum=1.505;QD=26.81;ReadPosRankSum=-1.038;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342175 GT:AD:DP:GQ:PL 0/1:23,13:38:99:1058,0,502
2 179583317 rs72648978 G A 3576.70 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.334;DB;DP=110;Dels=0.0;FS=3.174;HRun=3;HaplotypeScore=0.9999;MQ=59.07;MQ0=0;MQRankSum=1.478;QD=32.52;ReadPosRankSum=-0.238;SNPEFF_AMINO_ACID_CHANGE=T6928;SNPEFF_CODON_CHANGE=acC/acT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_179583049_179583327;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTN;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000342992 GT:AD:DP:GQ:PL 1/1:1,109:110:99:3577,255,0
2 179585266 rs2562831 C T 2949.21 PASS AC=2;AF=1.00;AN=2;DB;DP=86;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.97;MQ0=0;QD=34.29;SNPEFF_AMINO_ACID_CHANGE=Q6497;SNPEFF_CODON_CHANGE=caG/caA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_179585112_179585390;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTN;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000342992 GT:AD:DP:GQ:PL 1/1:0,86:86:99:2982,229,0
2 179586604 rs72648970 C G 3684.48 PASS AB=0.479;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.665;DB;DP=238;Dels=0.0;FS=7.118;HRun=0;HaplotypeScore=3.3879;MQ=59.55;MQ0=0;MQRankSum=-0.125;QD=15.48;ReadPosRankSum=-0.325;SNPEFF_AMINO_ACID_CHANGE=D6352H;SNPEFF_CODON_CHANGE=Gac/Cac;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_179586574_179586861;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTN;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000342992 GT:AD:DP:GQ:PL 0/1:114,124:238:99:3684,0,3577
2 179593558 . T TA 1824.67 PASS AB=0.684;AC=1;AF=0.50;AN=2;BaseQRankSum=-6.729;DP=108;FS=6.471;HRun=3;HaplotypeScore=253.1676;IndelType=I;MQ=59.6;MQ0=0;MQRankSum=2.453;QD=16.9;ReadPosRankSum=0.332;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342175 GT:AD:DP:GQ:PL 0/1:58,50:108:99:1864,0,1526
2 179600563 rs2742348 G A 4275.59 PASS AC=2;AF=1.00;AN=2;DB;DP=117;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=59.41;MQ0=0;QD=36.54;SNPEFF_AMINO_ACID_CHANGE=S3626;SNPEFF_CODON_CHANGE=tcC/tcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_179600238_179600801;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTN;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000342992 GT:AD:DP:GQ:PL 1/1:0,117:117:99:4276,316,0
2 179614952 rs10803917 A G 2353.75 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9578;MQ=59.66;MQ0=0;QD=34.61;SNPEFF_AMINO_ACID_CHANGE=L4059;SNPEFF_CODON_CHANGE=Tta/Cta;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_179610047_179616766;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTN;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000360870 GT:AD:DP:GQ:PL 1/1:0,68:68:99:2387,178,0
2 179615887 rs922984 T C 2475.52 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.734;MQ=60.0;MQ0=0;QD=36.95;SNPEFF_AMINO_ACID_CHANGE=D3747G;SNPEFF_CODON_CHANGE=gAc/gGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_179610047_179616766;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTN;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000360870 GT:AD:DP:GQ:PL 1/1:0,67:67:99:2509,187,0
2 179615931 rs922985 C G 2301.21 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.4;SNPEFF_AMINO_ACID_CHANGE=L3732F;SNPEFF_CODON_CHANGE=ttG/ttC;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_179610047_179616766;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTN;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000360870 GT:AD:DP:GQ:PL 1/1:0,65:65:99:2334,172,0
2 179615994 rs922986 T C 2462.18 PASS AC=2;AF=1.00;AN=2;DB;DP=76;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.4;SNPEFF_AMINO_ACID_CHANGE=T3711;SNPEFF_CODON_CHANGE=acA/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_179610047_179616766;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTN;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000360870 GT:AD:DP:GQ:PL 1/1:0,76:76:99:2495,190,0
2 179616770 rs66641728 GAA G 1413.75 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.808;DB;DP=83;FS=0.0;HRun=15;HaplotypeScore=394.4066;IndelType=D;MQ=57.08;MQ0=0;MQRankSum=1.213;QD=16.83;ReadPosRankSum=-0.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342175 GT:AD:DP:GQ:PL 1/1:20,57:83:99:1456,169,0
2 179618019 rs3754953 T A 490.68 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.05;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342175 GT:AD:DP:GQ:PL 1/1:0,14:14:39.13:524,39,0
2 179620951 rs7585334 C T 3589.78 PASS AC=2;AF=1.00;AN=2;DB;DP=102;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.19;SNPEFF_AMINO_ACID_CHANGE=G3580D;SNPEFF_CODON_CHANGE=gGt/gAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_179620949_179621524;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTN;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000342175 GT:AD:DP:GQ:PL 1/1:0,102:102:99:3590,265,0
2 179621477 rs6433728 C T 3838.21 PASS AC=2;AF=1.00;AN=2;DB;DP=111;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7465;MQ=60.0;MQ0=0;QD=34.58;SNPEFF_AMINO_ACID_CHANGE=A3405T;SNPEFF_CODON_CHANGE=Gcc/Acc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_179620949_179621524;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTN;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000342175 GT:AD:DP:GQ:PL 1/1:0,111:111:99:3838,283,0
2 179623758 rs2291310 C T 1613.43 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.52;SNPEFF_AMINO_ACID_CHANGE=S24N;SNPEFF_CODON_CHANGE=aGt/aAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_179623711_179623828;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTN;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000446208 GT:AD:DP:GQ:PL 1/1:0,43:43:99:1646,120,0
2 179623939 rs6705594 T C 1031.84 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.27;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342175 GT:AD:DP:GQ:PL 1/1:0,33:33:87.26:1065,87,0
2 179628680 rs1484119 G C 91.49 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342175 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:124,9,0
2 179629363 rs4894043 T C 3688.03 PASS AC=2;AF=1.00;AN=2;DB;DP=108;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9367;MQ=59.14;MQ0=0;QD=34.15;SNPEFF_AMINO_ACID_CHANGE=E3247;SNPEFF_CODON_CHANGE=gaA/gaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_179629254_179629538;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTN;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000342175 GT:AD:DP:GQ:PL 1/1:0,108:108:99:3688,274,0
2 179629461 rs2291311 C T 2601.56 PASS AC=2;AF=1.00;AN=2;DB;DP=78;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.11;MQ0=0;QD=33.35;SNPEFF_AMINO_ACID_CHANGE=V3215M;SNPEFF_CODON_CHANGE=Gtg/Atg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_179629254_179629538;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTN;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000342175 GT:AD:DP:GQ:PL 1/1:0,78:78:99:2635,202,0
2 179632710 rs2291313 T C 1428.08 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.8625;MQ=59.45;MQ0=0;QD=34.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342175 GT:AD:DP:GQ:PL 1/1:0,42:42:99:1461,108,0
2 179633298 rs4471922 G T 204.78 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.82;MQ0=0;QD=34.13;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342175 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:238,18,0
2 179634376 rs113022889 GTA G 804.05 PASS AC=2;AF=1.00;AN=2;DB;DP=23;FS=0.0;HRun=0;HaplotypeScore=184.0177;IndelType=D;MQ=42.03;MQ0=0;QD=34.96;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342175 GT:AD:DP:GQ:PL 1/1:0,23:23:69.22:846,69,0
2 179634421 . T G 224.12 PASS AB=0.308;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.217;DP=65;Dels=0.0;FS=9.048;HRun=3;HaplotypeScore=1.7262;MQ=48.78;MQ0=0;MQRankSum=-1.939;QD=3.45;ReadPosRankSum=4.771;SNPEFF_AMINO_ACID_CHANGE=T2917P;SNPEFF_CODON_CHANGE=Acc/Ccc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_179634406_179634666;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTN;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000342175 GT:AD:DP:GQ:PL 0/1:20,45:65:99:254,0,527
2 179635789 rs4893854 A T 320.81 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.65;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342175 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:354,27,0
2 179635882 rs4894047 C T 842.27 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.69;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342175 GT:AD:DP:GQ:PL 1/1:0,25:25:63.21:875,63,0
2 179638238 rs2291306 G A 1566.56 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.33;SNPEFF_AMINO_ACID_CHANGE=Y2469;SNPEFF_CODON_CHANGE=taC/taT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_179638189_179638452;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTN;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000342175 GT:AD:DP:GQ:PL 1/1:0,47:47:99:1600,120,0
2 179639297 rs3816781 C T 167.88 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342175 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:201,15,0
2 179639498 rs4894049 C G 49.83 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.92;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342175 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
2 179642425 rs719201 G A 1741.79 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.6;MQ0=0;QD=37.06;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342175 GT:AD:DP:GQ:PL 1/1:0,47:47:99:1775,132,0
2 179643886 rs2291302 A G 861.76 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.47;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342175 GT:AD:DP:GQ:PL 1/1:0,25:25:72.22:895,72,0
2 179643934 rs2291301 A G 1114.38 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.32;MQ0=0;QD=32.78;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342175 GT:AD:DP:GQ:PL 1/1:0,33:34:87.24:1147,87,0
2 179644035 rs1552280 G A 1444.22 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.5;MQ0=0;QD=31.4;SNPEFF_AMINO_ACID_CHANGE=S1249L;SNPEFF_CODON_CHANGE=tCa/tTa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_179643956_179644189;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTN;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000342175 GT:AD:DP:GQ:PL 1/1:0,46:46:99:1477,108,0
2 179644304 rs2035496 G A 286.79 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.85;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342175 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:320,24,0
2 179644855 rs10497520 T C 2987.40 PASS AC=2;AF=1.00;AN=2;DB;DP=91;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.6988;MQ=60.0;MQ0=0;QD=32.83;SNPEFF_AMINO_ACID_CHANGE=K1155E;SNPEFF_CODON_CHANGE=Aaa/Gaa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_179644727_179644932;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTN;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000342175 GT:AD:DP:GQ:PL 1/1:0,91:91:99:3020,229,0
2 179645106 rs12693168 A T 229.73 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.82;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342175 GT:AD:DP:GQ:PL 1/1:0,7:7:21.06:263,21,0
2 179664840 rs900772 T C 88.09 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.36;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000412264 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:120,9,0
2 179698844 rs78585114 G A 350.61 PASS AB=0.478;AC=1;AF=0.50;AN=2;BaseQRankSum=3.662;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=-0.092;QD=15.24;ReadPosRankSum=0.215;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC141;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295723 GT:AD:DP:GQ:PL 0/1:11,12:23:99:381,0,274
2 179702268 rs1032283 A G 1102.75 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=58.67;MQ0=0;QD=31.51;SNPEFF_AMINO_ACID_CHANGE=P1226;SNPEFF_CODON_CHANGE=ccT/ccC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_179701621_179702471;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC141;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000420890 GT:AD:DP:GQ:PL 1/1:0,35:35:90.28:1136,90,0
2 179702577 rs5836659 A AGG 797.65 PASS AC=2;AF=1.00;AN=2;DB;DP=15;FS=0.0;HRun=2;HaplotypeScore=46.028;IndelType=I;MQ=61.43;MQ0=0;QD=53.18;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC141;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295723 GT:AD:DP:GQ:PL 1/1:0,14:15:45.15:840,45,0
2 179702610 rs2078403 C T 75.63 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=61.78;MQ0=0;MQRankSum=0.0;QD=12.61;ReadPosRankSum=-0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC141;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295723 GT:AD:DP:GQ:PL 0/1:2,4:6:53.58:106,0,54
2 179710550 rs17453403 C G 288.73 PASS AB=0.389;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.64;MQ0=0;MQRankSum=1.177;QD=16.04;ReadPosRankSum=-0.815;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC141;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295723 GT:AD:DP:GQ:PL 0/1:7,11:18:99:319,0,242
2 179714675 rs4894055 C T 729.13 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC141;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295723 GT:AD:DP:GQ:PL 1/1:0,21:21:60.19:762,60,0
2 179721032 rs12464157 C T 1316.74 PASS AB=0.488;AC=1;AF=0.50;AN=2;BaseQRankSum=3.555;DB;DP=87;Dels=0.0;FS=0.794;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.35;QD=15.13;ReadPosRankSum=-0.134;SNPEFF_AMINO_ACID_CHANGE=A364;SNPEFF_CODON_CHANGE=gcG/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_179720984_179721124;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC141;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000295723 GT:AD:DP:GQ:PL 0/1:42,44:87:99:1347,0,1287
2 179721264 rs71226087 C CCTCT 300.58 PASS AC=2;AF=1.00;AN=2;DB;DP=7;FS=0.0;HRun=0;HaplotypeScore=24.285;IndelType=I;MQ=64.48;MQ0=0;QD=42.94;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC141;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295723 GT:AD:DP:GQ:PL 1/1:1,6:7:18.06:342,18,0
2 179730852 rs79220514 A G 111.11 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.731;QD=22.22;ReadPosRankSum=0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC141;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295723 GT:AD:DP:GQ:PL 0/1:1,4:5:25.60:141,0,26
2 179732980 rs10165177 A G 1128.41 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.4;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC141;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409284 GT:AD:DP:GQ:PL 1/1:0,31:31:87.28:1161,87,0
2 179733011 rs76209803 A T 151.45 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=0.059;DB;DP=15;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.884;QD=10.1;ReadPosRankSum=0.648;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC141;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409284 GT:AD:DP:GQ:PL 0/1:9,6:15:99:181,0,285
2 179735946 rs1565287 A G 130.40 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.6;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC141;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409284 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:163,12,0
2 179736006 rs6731864 T G 169.69 PASS AB=0.529;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.684;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.107;QD=9.98;ReadPosRankSum=-0.433;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC141;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409284 GT:AD:DP:GQ:PL 0/1:9,8:17:99:200,0,328
2 179737144 rs12693170 C A 335.37 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.26;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC141;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409284 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:368,27,0
2 179742996 rs13400020 A G 92.19 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.73;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC141;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295723 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:124,9,0
2 179751817 rs4894060 T A 47.20 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.6;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC141;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409284 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:78,6,0
2 179753245 rs7573293 C T 2662.53 PASS AC=2;AF=1.00;AN=2;DB;DP=73;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.47;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC141;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409284 GT:AD:DP:GQ:PL 1/1:0,73:73:99:2696,196,0
2 179753549 rs1873164 G A 198.75 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.84;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC141;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409284 GT:AD:DP:GQ:PL 1/1:0,8:8:18.06:232,18,0
2 179783696 rs12467323 C A 168.38 PASS AB=0.3;AC=1;AF=0.50;AN=2;BaseQRankSum=0.296;DB;DP=10;Dels=0.0;FS=5.229;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.546;QD=16.84;ReadPosRankSum=1.818;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC141;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409284 GT:AD:DP:GQ:PL 0/1:3,7:10:86.01:198,0,86
2 179825838 rs78770428 TG T 179.62 PASS AB=0.72;AC=1;AF=0.50;AN=2;BaseQRankSum=1.902;DB;DP=18;FS=0.0;HRun=2;HaplotypeScore=42.534;IndelType=D;MQ=60.0;MQ0=0;MQRankSum=0.362;QD=9.98;ReadPosRankSum=0.906;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC141;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409284 GT:AD:DP:GQ:PL 0/1:11,7:18:99:219,0,428
2 179826241 rs6725028 A G 600.51 PASS AB=0.3;AC=1;AF=0.50;AN=2;BaseQRankSum=0.543;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.588;QD=20.02;ReadPosRankSum=-0.181;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC141;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409284 GT:AD:DP:GQ:PL 0/1:9,21:30:99:631,0,214
2 179839728 rs143596162 A G 363.54 PASS AB=0.435;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.442;DB;DP=23;Dels=0.0;FS=4.669;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.217;QD=15.81;ReadPosRankSum=1.023;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC141;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409284 GT:AD:DP:GQ:PL 0/1:10,13:23:99:394,0,310
2 179914640 rs61397643 G A 687.29 PASS AB=0.465;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.144;DB;DP=43;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.484;QD=15.98;ReadPosRankSum=1.268;SNPEFF_AMINO_ACID_CHANGE=A10V;SNPEFF_CODON_CHANGE=gCg/gTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_179914567_179914786;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC141;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000409284 GT:AD:DP:GQ:PL 0/1:20,23:43:99:717,0,560
2 179977723 rs17454087 C G 370.68 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.89;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SESTD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000428443 GT:AD:DP:GQ:PL 1/1:0,12:12:30.09:404,30,0
2 179980070 rs2044479 G A 195.79 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.63;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SESTD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000428443 GT:AD:DP:GQ:PL 1/1:0,6:6:18.04:229,18,0
2 179982125 rs71815273 AAGAT A 326.82 PASS AC=2;AF=1.00;AN=2;DB;DP=7;FS=0.0;HRun=0;HaplotypeScore=35.9789;IndelType=D;MQ=56.42;MQ0=0;QD=46.69;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SESTD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426988 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:369,21,0
2 179988395 rs5836671 T TA 735.18 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-2.064;DB;DP=43;FS=3.443;HRun=13;HaplotypeScore=180.0003;IndelType=I;MQ=57.73;MQ0=0;MQRankSum=0.85;QD=17.1;ReadPosRankSum=0.668;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SESTD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000428443 GT:AD:DP:GQ:PL 1/1:11,31:43:53.37:777,53,0
2 179989039 rs2289992 G A 695.37 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.84;MQ0=0;QD=34.77;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SESTD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000428443 GT:AD:DP:GQ:PL 1/1:0,20:20:54.18:728,54,0
2 179997177 rs3214766 AT A 2234.11 PASS AC=2;AF=1.00;AN=2;DB;DP=79;FS=0.0;HRun=6;HaplotypeScore=241.0889;IndelType=D;MQ=61.39;MQ0=0;QD=28.28;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SESTD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000428443 GT:AD:DP:GQ:PL 1/1:8,71:79:99:2276,214,0
2 180047746 rs1446673 G C 760.55 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.89;MQ0=0;QD=36.22;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SESTD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000428443 GT:AD:DP:GQ:PL 1/1:0,20:21:60.19:794,60,0
2 180047908 rs6757681 T C 912.93 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.14;MQ0=0;QD=33.81;SNPEFF_AMINO_ACID_CHANGE=K21;SNPEFF_CODON_CHANGE=aaA/aaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_180047807_180047915;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SESTD1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000428443 GT:AD:DP:GQ:PL 1/1:0,27:27:78.23:946,78,0
2 180048071 rs12693176 T C 76.28 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.43;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SESTD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000428443 GT:AD:DP:GQ:PL 1/1:0,3:3:9.02:108,9,0
2 180307879 rs67439986 TG T 215.19 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=2.404;DB;DP=12;FS=0.0;HRun=6;HaplotypeScore=31.7468;IndelType=D;MQ=60.0;MQ0=0;MQRankSum=0.925;QD=17.93;ReadPosRankSum=-0.74;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ZNF385B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000457304 GT:AD:DP:GQ:PL 0/1:3,9:12:82.36:254,0,82
2 180310604 rs12623873 C T 58.22 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.231;QD=11.64;ReadPosRankSum=0.358;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ZNF385B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475539 GT:AD:DP:GQ:PL 0/1:2,3:5:58.08:88,0,58
2 180311207 rs2271760 G A 315.99 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.67;DB;DP=21;Dels=0.0;FS=3.468;HRun=0;HaplotypeScore=0.0;MQ=59.11;MQ0=0;MQRankSum=0.675;QD=15.05;ReadPosRankSum=0.888;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ZNF385B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475539 GT:AD:DP:GQ:PL 0/1:9,12:21:99:346,0,276
2 180383498 rs4567894 C A 171.76 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.323;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.097;QD=12.27;ReadPosRankSum=0.581;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ZNF385B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336917 GT:AD:DP:GQ:PL 0/1:8,6:14:99:202,0,276
2 180409496 rs80000888 C A 711.04 PASS AB=0.557;AC=1;AF=0.50;AN=2;BaseQRankSum=2.603;DB;DP=61;Dels=0.0;FS=3.504;HRun=3;HaplotypeScore=0.0;MQ=59.62;MQ0=0;MQRankSum=0.813;QD=11.66;ReadPosRankSum=-0.53;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ZNF385B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463918 GT:AD:DP:GQ:PL 0/1:34,27:61:99:741,0,1119
2 180810180 rs59139193 C T 8117.81 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.496;DB;DP=238;DS;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=5.3842;MQ=59.9;MQ0=0;MQRankSum=-1.113;QD=34.11;ReadPosRankSum=-0.744;SNPEFF_AMINO_ACID_CHANGE=A801;SNPEFF_CODON_CHANGE=gcG/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_180809856_180810442;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CWC22;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000295749 GT:AD:DP:GQ:PL 1/1:1,236:238:99:8118,568,0
2 180810264 rs6433818 A T 8984.56 PASS AC=2;AF=1.00;AN=2;DB;DP=250;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=4.9376;MQ=59.91;MQ0=0;QD=35.94;SNPEFF_AMINO_ACID_CHANGE=S773R;SNPEFF_CODON_CHANGE=agT/agA;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_180809856_180810442;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CWC22;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000295749 GT:AD:DP:GQ:PL 1/1:0,250:250:99:8985,656,0
2 180815528 rs2304858 A T 3546.28 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.282;DB;DP=98;Dels=0.0;FS=2.682;HRun=1;HaplotypeScore=2.9155;MQ=60.0;MQ0=0;MQRankSum=0.774;QD=36.19;ReadPosRankSum=0.038;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CWC22;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295749 GT:AD:DP:GQ:PL 1/1:2,96:98:99:3546,223,0
2 180823590 rs10497553 C T 44.35 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=14.78;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CWC22;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295749 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:76,6,0
2 180830958 rs6733426 A G 38.36 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=19.18;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CWC22;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295749 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:70,6,0
2 180835589 rs4894140 A G 3471.85 PASS AC=2;AF=1.00;AN=2;DB;DP=107;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.45;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CWC22;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295749 GT:AD:DP:GQ:PL 1/1:0,107:107:99:3472,280,0
2 180835792 rs3768837 T A 1699.88 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.69;SNPEFF_AMINO_ACID_CHANGE=V272;SNPEFF_CODON_CHANGE=gtA/gtT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_180835668_180835803;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CWC22;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000295749 GT:AD:DP:GQ:PL 1/1:0,49:49:99:1733,132,0
2 180835992 rs3768839 G A 92.19 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.73;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CWC22;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295749 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:124,9,0
2 180837806 rs6433821 T A 247.64 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.11;MQ0=0;QD=24.76;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CWC22;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295749 GT:AD:DP:GQ:PL 1/1:0,10:10:21.07:281,21,0
2 180843126 rs2367990 C T 574.13 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.28;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CWC22;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295749 GT:AD:DP:GQ:PL 1/1:0,15:15:45.12:607,45,0
2 180846743 rs3738943 G T 682.47 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=6;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.92;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CWC22;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295749 GT:AD:DP:GQ:PL 1/1:0,19:19:57.17:715,57,0
2 181927362 rs193281538 A G 73.19 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.537;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=12.2;ReadPosRankSum=0.988;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBE2E3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000411535 GT:AD:DP:GQ:PL 0/1:3,3:6:90.81:103,0,91
2 182340214 rs2305591 A T 37.45 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.72;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484404 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:69,6,0
2 182344846 rs113209523 G GT 1396.32 PASS AC=2;AF=1.00;AN=2;DB;DP=48;FS=0.0;HRun=10;HaplotypeScore=122.9736;IndelType=I;MQ=58.64;MQ0=0;QD=29.09;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000339307 GT:AD:DP:GQ:PL 1/1:3,45:48:99:1438,135,0
2 182346954 rs155098 C T 131.52 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.92;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478440 GT:AD:DP:GQ:PL 1/1:0,6:6:12.04:164,12,0
2 182350447 rs155102 A G 90.95 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233573 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:123,9,0
2 182350743 rs155103 A G 1352.95 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9867;MQ=59.39;MQ0=0;QD=35.6;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233573 GT:AD:DP:GQ:PL 1/1:0,38:38:99:1386,105,0
2 182359613 rs165419 G A 903.07 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.05;MQ0=0;QD=37.63;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233573 GT:AD:DP:GQ:PL 1/1:0,24:24:69.23:936,69,0
2 182363613 rs1349196 T A 322.85 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.87;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473002 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:356,27,0
2 182374179 rs2368211 T C 116.99 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.16;MQ0=0;QD=29.25;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233573 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:149,12,0
2 182374534 rs1143674 A G 1775.61 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8321;MQ=59.56;MQ0=0;QD=34.15;SNPEFF_AMINO_ACID_CHANGE=T615;SNPEFF_CODON_CHANGE=acA/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_182374385_182374534;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGA4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000397033 GT:AD:DP:GQ:PL 1/1:1,51:52:99:1809,138,0
2 182376546 rs1466109 T G 1850.31 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.91;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233573 GT:AD:DP:GQ:PL 1/1:0,53:53:99:1883,147,0
2 182387133 rs7602504 A G 1129.98 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9578;MQ=60.0;MQ0=0;QD=32.29;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397033 GT:AD:DP:GQ:PL 1/1:0,34:35:87.27:1163,87,0
2 182394145 rs3770104 C T 134.21 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.55;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000476824 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:167,12,0
2 182395345 rs1143676 G A 2747.53 PASS AC=2;AF=1.00;AN=2;DB;DP=75;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;QD=36.63;SNPEFF_AMINO_ACID_CHANGE=R878Q;SNPEFF_CODON_CHANGE=cGg/cAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_182395251_182395376;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGA4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000397033 GT:AD:DP:GQ:PL 1/1:0,75:75:99:2781,202,0
2 182399097 rs7562325 T C 672.85 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.58;SNPEFF_AMINO_ACID_CHANGE=H961;SNPEFF_CODON_CHANGE=caT/caC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_182398999_182399097;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGA4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000397033 GT:AD:DP:GQ:PL 1/1:0,22:22:60.17:706,60,0
2 182399497 rs11418738 A ATTT 762.54 PASS AC=2;AF=1.00;AN=2;DB;DP=21;FS=0.0;HRun=11;HaplotypeScore=105.77;IndelType=I;MQ=50.41;MQ0=0;QD=36.31;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CERKL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000339098 GT:AD:DP:GQ:PL 1/1:2,9:21:57.02:805,57,0
2 182399523 . A T 60.63 PASS AB=0.767;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.167;DP=30;Dels=0.0;FS=2.754;HRun=5;HaplotypeScore=5.8827;MQ=53.47;MQ0=0;MQRankSum=-1.326;QD=2.02;ReadPosRankSum=-0.531;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CERKL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000339098 GT:AD:DP:GQ:PL 0/1:23,7:30:90.62:91,0,511
2 182399638 rs2124443 A G 2771.86 PASS AC=2;AF=1.00;AN=2;DB;DP=75;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.81;MQ0=0;QD=36.96;SNPEFF_AMINO_ACID_CHANGE=L993;SNPEFF_CODON_CHANGE=ctA/ctG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_182399543_182399662;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGA4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000397033 GT:AD:DP:GQ:PL 1/1:0,75:75:99:2805,208,0
2 182399986 rs4666787 A G 34.39 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=11.46;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CERKL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000339098 GT:AD:DP:GQ:PL 1/1:0,3:3:6.01:66,6,0
2 182402790 rs6747500 G A 341.21 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.91;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CERKL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000339098 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:374,27,0
2 182403792 rs57234957 A AT 1877.59 PASS AC=2;AF=1.00;AN=2;DB;DP=42;FS=0.0;HRun=0;HaplotypeScore=217.5735;IndelType=I;MQ=59.13;MQ0=0;QD=44.7;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397033 GT:AD:DP:GQ:PL 1/1:4,38:42:99:1920,120,0
2 182403851 rs10180793 G A 2278.27 PASS AC=2;AF=1.00;AN=2;DB;DP=73;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.9832;MQ=59.03;MQ0=0;QD=31.21;SNPEFF_AMINO_ACID_CHANGE=D389;SNPEFF_CODON_CHANGE=gaC/gaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_182403819_182403991;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CERKL;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000374969 GT:AD:DP:GQ:PL 1/1:0,73:73:99:2311,175,0
2 182412633 . G GACACACACACACAC 11564.86 PASS AC=2;AF=1.00;AN=2;DP=86;FS=0.0;HRun=0;HaplotypeScore=858.3916;IndelType=I;MQ=40.06;MQ0=0;QD=134.48;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CERKL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000339098 GT:AD:DP:GQ:PL 1/1:45,17:86:99:11565,205,0
2 182412723 rs78496639 C CGT 239.44 PASS AC=2;AF=1.00;AN=2;DB;DP=6;FS=0.0;HRun=0;HaplotypeScore=13.8212;IndelType=I;MQ=60.0;MQ0=0;QD=39.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CERKL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000339098 GT:AD:DP:GQ:PL 1/1:1,5:6:15.05:281,15,0
2 182413259 rs12997453 A G 626.04 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.77;MQ0=0;QD=32.95;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CERKL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000339098 GT:AD:DP:GQ:PL 1/1:0,19:19:51.15:659,51,0
2 182413602 rs13003064 A T 966.49 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.38;MQ0=0;QD=32.22;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CERKL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000339098 GT:AD:DP:GQ:PL 1/1:0,30:30:78.25:999,78,0
2 182430120 rs7604902 C A 1027.47 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9665;MQ=60.0;MQ0=0;QD=35.43;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CERKL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460319 GT:AD:DP:GQ:PL 1/1:0,29:29:84.22:1060,84,0
2 182438716 rs10427195 A G 795.11 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.19;MQ0=0;QD=34.57;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CERKL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000339098 GT:AD:DP:GQ:PL 1/1:0,23:23:63.20:828,63,0
2 182521578 rs1473295 G A 476.54 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.66;SNPEFF_AMINO_ACID_CHANGE=F52;SNPEFF_CODON_CHANGE=ttC/ttT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_182521496_182521733;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CERKL;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000339098 GT:AD:DP:GQ:PL 1/1:0,13:13:39.13:510,39,0
2 182543455 rs1801262 T C 987.74 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.99;SNPEFF_AMINO_ACID_CHANGE=T45A;SNPEFF_CODON_CHANGE=Acc/Gcc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_182541194_182543598;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NEUROD1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000295108 GT:AD:DP:GQ:PL 1/1:0,26:26:78.24:1021,78,0
2 182767178 rs34087767 C G 408.89 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.397;DB;DP=35;Dels=0.0;FS=4.393;HRun=0;HaplotypeScore=0.9999;MQ=60.0;MQ0=0;MQRankSum=-0.387;QD=11.68;ReadPosRankSum=0.253;SNPEFF_AMINO_ACID_CHANGE=S313;SNPEFF_CODON_CHANGE=tcC/tcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_182766493_182767193;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SSFA2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000428267 GT:AD:DP:GQ:PL 0/1:21,14:35:99:439,0,628
2 182792965 rs34728960 G A 707.62 PASS AB=0.639;AC=1;AF=0.50;AN=2;BaseQRankSum=3.288;DB;DP=72;Dels=0.0;FS=9.55;HRun=0;HaplotypeScore=1.5592;MQ=59.42;MQ0=0;MQRankSum=0.428;QD=9.83;ReadPosRankSum=1.917;SNPEFF_AMINO_ACID_CHANGE=A1076;SNPEFF_CODON_CHANGE=gcG/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_182792888_182793005;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SSFA2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000428267 GT:AD:DP:GQ:PL 0/1:46,26:72:99:738,0,1297
2 182794534 rs1051085 G A 112.44 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=0.361;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.361;QD=12.49;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SSFA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000428267 GT:AD:DP:GQ:PL 0/1:4,5:9:99:142,0,138
2 182926144 rs3754930 T C 253.05 PASS AB=0.529;AC=1;AF=0.50;AN=2;BaseQRankSum=0.529;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9987;MQ=60.0;MQ0=0;MQRankSum=0.529;QD=14.89;ReadPosRankSum=-0.241;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PPP1R1C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000280295 GT:AD:DP:GQ:PL 0/1:9,8:17:99:283,0,281
2 182928555 rs1196161 G C 2756.30 PASS AC=2;AF=1.00;AN=2;DB;DP=79;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.6649;MQ=60.0;MQ0=0;QD=34.89;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PPP1R1C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000280295 GT:AD:DP:GQ:PL 1/1:0,79:79:99:2789,211,0
2 182981846 rs1882211 G C 443.87 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.04;MQ0=0;QD=36.99;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PPP1R1C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000280295 GT:AD:DP:GQ:PL 1/1:0,12:12:36.12:477,36,0
2 182981968 rs1882212 A G 492.37 PASS AB=0.488;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.582;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.8962;MQ=58.87;MQ0=0;MQRankSum=-0.582;QD=12.01;ReadPosRankSum=-0.203;SNPEFF_AMINO_ACID_CHANGE=A92;SNPEFF_CODON_CHANGE=gcA/gcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_182981934_182982028;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PPP1R1C;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000409137 GT:AD:DP:GQ:PL 0/1:20,21:41:99:522,0,609
2 183033020 rs78156757 GA G 306.58 PASS AB=0.704;AC=1;AF=0.50;AN=2;BaseQRankSum=3.044;DB;DP=50;FS=0.0;HRun=12;HaplotypeScore=205.4081;IndelType=D;MQ=58.69;MQ0=0;MQRankSum=-0.629;QD=6.13;ReadPosRankSum=-0.201;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDE1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331935 GT:AD:DP:GQ:PL 0/1:28,20:50:99:346,0,498
2 183050386 rs1864855 G C 35.68 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.84;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDE1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456212 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:67,6,0
2 183050963 rs1368216 C G 111.20 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.731;QD=22.24;ReadPosRankSum=0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDE1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331935 GT:AD:DP:GQ:PL 0/1:1,4:5:26.18:141,0,26
2 183051421 rs7597711 A G 568.52 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.53;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDE1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331935 GT:AD:DP:GQ:PL 1/1:0,16:16:45.14:602,45,0
2 183051449 rs10930991 T C 90.77 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.278;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.678;QD=8.25;ReadPosRankSum=1.034;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDE1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331935 GT:AD:DP:GQ:PL 0/1:7,4:11:99:121,0,192
2 183070619 rs1344773 A T 420.42 PASS AB=0.515;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.057;DB;DP=33;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.433;QD=12.74;ReadPosRankSum=0.735;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDE1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331935 GT:AD:DP:GQ:PL 0/1:17,16:33:99:450,0,536
2 183070911 rs55747252 G A 170.02 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.244;DB;DP=12;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.05;MQ0=0;MQRankSum=-1.635;QD=14.17;ReadPosRankSum=0.831;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDE1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331935 GT:AD:DP:GQ:PL 0/1:5,7:12:99:200,0,164
2 183088584 rs3754929 G A 250.51 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.945;DB;DP=15;Dels=0.0;FS=3.136;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.295;QD=16.7;ReadPosRankSum=-0.412;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDE1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000482538 GT:AD:DP:GQ:PL 0/1:6,9:15:99:280,0,212
2 183106427 rs2623435 C G 177.32 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.524;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.936;QD=12.67;ReadPosRankSum=0.663;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDE1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331935 GT:AD:DP:GQ:PL 0/1:7,7:14:99:207,0,241
2 183106758 rs2568667 T G 161.96 PASS AB=0.611;AC=1;AF=0.50;AN=2;BaseQRankSum=1.54;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.181;QD=9.0;ReadPosRankSum=-1.087;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDE1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331935 GT:AD:DP:GQ:PL 0/1:11,7:18:99:192,0,403
2 183129242 rs10930999 A G 193.24 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=2.072;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.447;QD=19.32;ReadPosRankSum=-0.365;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDE1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331935 GT:AD:DP:GQ:PL 0/1:4,6:10:99:223,0,137
2 183583130 rs2118591 A G 335.95 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.33;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAJC10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264065 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:369,27,0
2 183584755 rs6729801 G A 1622.53 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;QD=33.8;SNPEFF_AMINO_ACID_CHANGE=D76N;SNPEFF_CODON_CHANGE=Gat/Aat;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_183584734_183584896;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAJC10;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000264065 GT:AD:DP:GQ:PL 1/1:0,48:48:99:1656,123,0
2 183593451 rs3832045 AT A 962.22 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.733;DB;DP=43;FS=5.798;HRun=9;HaplotypeScore=130.3213;IndelType=D;MQ=60.29;MQ0=0;MQRankSum=1.641;QD=22.38;ReadPosRankSum=1.368;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAJC10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469118 GT:AD:DP:GQ:PL 1/1:6,37:43:99:1004,103,0
2 183593697 rs288280 C T 1302.79 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.21;SNPEFF_AMINO_ACID_CHANGE=S203;SNPEFF_CODON_CHANGE=agC/agT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_183593590_183593721;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAJC10;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000264065 GT:AD:DP:GQ:PL 1/1:0,37:37:99:1336,99,0
2 183594362 rs67313165 G GA 173.65 PASS AC=2;AF=1.00;AN=2;DB;DP=5;FS=0.0;HRun=2;HaplotypeScore=22.3802;IndelType=I;MQ=55.21;MQ0=0;QD=34.73;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAJC10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469118 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:215,15,0
2 183597063 rs288282 T G 168.37 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.67;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAJC10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469118 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:201,15,0
2 183597318 rs825660 A G 1684.87 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.1;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAJC10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469118 GT:AD:DP:GQ:PL 1/1:0,48:48:99:1718,126,0
2 183597462 rs17356762 G A 50.63 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=16.88;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAJC10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469118 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:82,6,0
2 183616150 rs386134 T C 51.64 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.82;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAJC10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264065 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:83,6,0
2 183616543 rs192892884 A G 2038.89 PASS AB=0.503;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.406;DB;DP=143;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.516;QD=14.26;ReadPosRankSum=-0.688;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAJC10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264065 GT:AD:DP:GQ:PL 0/1:72,71:143:99:2069,0,2245
2 183616592 rs3098359 C T 3310.21 PASS AC=2;AF=1.00;AN=2;DB;DP=91;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.8255;MQ=59.75;MQ0=0;QD=36.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAJC10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264065 GT:AD:DP:GQ:PL 1/1:0,91:91:99:3310,250,0
2 183616748 rs3115425 G C 1483.85 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.601;DB;DP=49;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9995;MQ=59.53;MQ0=0;MQRankSum=-1.45;QD=30.28;ReadPosRankSum=-0.177;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAJC10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264065 GT:AD:DP:GQ:PL 1/1:1,48:49:91.58:1517,92,0
2 183622319 rs141152570 AATAAT A 1026.68 PASS AC=2;AF=1.00;AN=2;DB;DP=18;FS=0.0;HRun=0;HaplotypeScore=110.1048;IndelType=D;MQ=51.35;MQ0=0;QD=57.04;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAJC10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264065 GT:AD:DP:GQ:PL 1/1:0,18:18:54.18:1069,54,0
2 183622547 rs288334 T G 995.19 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.8;MQ0=0;QD=31.1;SNPEFF_AMINO_ACID_CHANGE=H600Q;SNPEFF_CODON_CHANGE=caT/caG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_183622419_183622552;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAJC10;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000392392 GT:AD:DP:GQ:PL 1/1:0,32:32:78.25:1028,78,0
2 183627504 rs192618 A G 1984.14 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.07;SNPEFF_AMINO_ACID_CHANGE=K701;SNPEFF_CODON_CHANGE=aaA/aaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_183627409_183627528;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAJC10;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000392392 GT:AD:DP:GQ:PL 1/1:0,60:60:99:2017,150,0
2 183627619 rs190830 C G 1064.51 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.02;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAJC10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264065 GT:AD:DP:GQ:PL 1/1:0,28:28:78.26:1098,78,0
2 183653727 rs288304 C A 544.28 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.55;MQ0=0;QD=34.02;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAJC10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392392 GT:AD:DP:GQ:PL 1/1:0,16:16:45.14:577,45,0
2 183723722 rs6433992 A G 490.25 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.71;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FRZB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295113 GT:AD:DP:GQ:PL 1/1:0,13:13:39.11:523,39,0
2 183793383 rs9333279 T C 49.99 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NCKAP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471640 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
2 183793398 rs9333280 A G 43.46 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.73;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NCKAP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471640 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:75,6,0
2 183799558 rs9288088 G C 516.37 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.274;DB;DP=19;Dels=0.0;FS=5.006;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.004;QD=27.18;ReadPosRankSum=1.552;SNPEFF_AMINO_ACID_CHANGE=V927;SNPEFF_CODON_CHANGE=gtC/gtG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_183799480_183799560;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NCKAP1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000361354 GT:AD:DP:GQ:PL 1/1:1,18:19:26.04:549,26,0
2 183827018 rs2271671 G A 551.62 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.77;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NCKAP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360982 GT:AD:DP:GQ:PL 1/1:0,15:15:45.15:585,45,0
2 183832100 . C CA 209.85 PASS AB=0.769;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.441;DP=40;FS=1.72;HRun=12;HaplotypeScore=186.79;IndelType=I;MQ=58.67;MQ0=0;MQRankSum=-0.534;QD=5.25;ReadPosRankSum=0.673;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NCKAP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360982 GT:AD:DP:GQ:PL 0/1:27,11:40:99:249,0,249
2 183851058 rs10185562 C T 235.53 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.65;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NCKAP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360982 GT:AD:DP:GQ:PL 1/1:0,7:7:21.06:268,21,0
2 183859473 rs16823914 T C 694.34 PASS AB=0.603;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.057;DB;DP=58;Dels=0.0;FS=1.934;HRun=0;HaplotypeScore=0.0;MQ=59.28;MQ0=0;MQRankSum=0.171;QD=11.97;ReadPosRankSum=-0.545;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NCKAP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360982 GT:AD:DP:GQ:PL 0/1:35,23:58:99:724,0,1203
2 183960522 rs13399265 T C 117.72 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.43;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DUSP19;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469344 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:150,12,0
2 183988984 rs2705719 C G 162.09 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.42;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NUP35;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472844 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:195,15,0
2 183998366 rs34264626 CT C 110.18 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=0.567;DB;DP=20;FS=0.0;HRun=17;HaplotypeScore=152.0112;IndelType=D;MQ=58.77;MQ0=0;MQRankSum=0.063;QD=5.51;ReadPosRankSum=0.315;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NUP35;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000442895 GT:AD:DP:GQ:PL 0/1:8,10:20:26.13:149,0,26
2 184022015 rs3791249 G C 306.84 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.09;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NUP35;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295119 GT:AD:DP:GQ:PL 1/1:0,9:9:24.08:340,24,0
2 184023295 rs13410455 G A 88.22 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.41;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NUP35;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295119 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:120,9,0
2 185463535 rs73041379 G A 31.42 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.95;MQ0=0;MQRankSum=-1.026;QD=7.86;ReadPosRankSum=0.0;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_2_185463093_185463797;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF804A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302277 GT:AD:DP:GQ:PL 0/1:2,2:4:54.65:61,0,55
2 185463815 . C CCT 1231.06 PASS AC=2;AF=1.00;AN=2;DP=33;FS=0.0;HRun=0;HaplotypeScore=99.3442;IndelType=I;MQ=59.12;MQ0=0;QD=37.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF804A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302277 GT:AD:DP:GQ:PL 1/1:7,26:33:78.27:1273,78,0
2 185798504 rs4667000 A C 148.28 PASS AB=0.611;AC=1;AF=0.50;AN=2;BaseQRankSum=0.543;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.181;QD=8.24;ReadPosRankSum=1.087;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF804A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302277 GT:AD:DP:GQ:PL 0/1:11,7:18:99:178,0,359
2 185800905 rs12476147 A T 945.28 PASS AB=0.558;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.831;DB;DP=77;Dels=0.0;FS=0.882;HRun=0;HaplotypeScore=0.9987;MQ=60.0;MQ0=0;MQRankSum=-1.081;QD=12.28;ReadPosRankSum=-0.851;SNPEFF_AMINO_ACID_CHANGE=Q261L;SNPEFF_CODON_CHANGE=cAa/cTa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_185800510_185804219;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF804A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000302277 GT:AD:DP:GQ:PL 0/1:43,34:77:99:975,0,1336
2 185801747 rs4667001 G A 844.36 PASS AB=0.492;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.873;DB;DP=59;Dels=0.0;FS=3.586;HRun=1;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=-1.827;QD=14.31;ReadPosRankSum=-0.569;SNPEFF_AMINO_ACID_CHANGE=E542K;SNPEFF_CODON_CHANGE=Gag/Aag;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_185800510_185804219;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF804A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000302277 GT:AD:DP:GQ:PL 0/1:29,30:59:99:874,0,977
2 185801755 rs4667002 A G 780.11 PASS AB=0.482;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.279;DB;DP=56;Dels=0.0;FS=3.786;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.23;QD=13.93;ReadPosRankSum=0.098;SNPEFF_AMINO_ACID_CHANGE=T544;SNPEFF_CODON_CHANGE=acA/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_185800510_185804219;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF804A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000302277 GT:AD:DP:GQ:PL 0/1:27,29:56:99:810,0,940
2 185802211 rs5836928 C CACA 843.66 PASS AB=0.767;AC=1;AF=0.50;AN=2;BaseQRankSum=0.858;DB;DP=56;FS=0.0;HRun=0;HaplotypeScore=238.7016;IndelType=I;MQ=58.29;MQ0=0;MQRankSum=-0.293;QD=15.07;ReadPosRankSum=-0.956;SNPEFF_AMINO_ACID_CHANGE=-697T;SNPEFF_CODON_CHANGE=-/ACA;SNPEFF_EFFECT=CODON_INSERTION;SNPEFF_EXON_ID=exon_2_185800510_185804219;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF804A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000302277 GT:AD:DP:GQ:PL 0/1:39,16:56:99:883,0,1535
2 185802243 rs1366842 C A 431.32 PASS AB=0.66;AC=1;AF=0.50;AN=2;BaseQRankSum=1.376;DB;DP=50;Dels=0.0;FS=8.805;HRun=2;HaplotypeScore=0.0;MQ=58.35;MQ0=0;MQRankSum=0.914;QD=8.63;ReadPosRankSum=-1.04;SNPEFF_AMINO_ACID_CHANGE=T707K;SNPEFF_CODON_CHANGE=aCa/aAa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_185800510_185804219;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF804A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000302277 GT:AD:DP:GQ:PL 0/1:33,17:50:99:461,0,1059
2 185802363 rs12477430 A G 885.82 PASS AB=0.476;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.993;DB;DP=63;Dels=0.0;FS=7.09;HRun=0;HaplotypeScore=0.0;MQ=59.04;MQ0=0;MQRankSum=-0.062;QD=14.06;ReadPosRankSum=1.92;SNPEFF_AMINO_ACID_CHANGE=H747R;SNPEFF_CODON_CHANGE=cAc/cGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_185800510_185804219;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF804A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000302277 GT:AD:DP:GQ:PL 0/1:30,33:63:99:916,0,927
2 186412592 rs4233785 G A 119.44 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.16;MQ0=0;QD=29.86;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=AC080125.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000414888 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:152,12,0
2 186610344 rs11884004 T G 393.40 PASS AB=0.568;AC=1;AF=0.50;AN=2;BaseQRankSum=1.894;DB;DP=37;Dels=0.0;FS=8.889;HRun=0;HaplotypeScore=0.0;MQ=58.74;MQ0=0;MQRankSum=-0.493;QD=10.63;ReadPosRankSum=0.844;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FSIP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465275 GT:AD:DP:GQ:PL 0/1:21,16:37:99:423,0,625
2 186610388 rs17813736 G A 206 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=0.133;DB;DP=18;Dels=0.0;FS=3.522;HRun=0;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=-0.844;QD=11.44;ReadPosRankSum=-1.022;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FSIP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465275 GT:AD:DP:GQ:PL 0/1:10,8:18:99:236,0,351
2 186611566 rs6758484 C A 2030.72 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.9748;MQ=60.0;MQ0=0;QD=35.63;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FSIP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465275 GT:AD:DP:GQ:PL 1/1:0,57:57:99:2064,157,0
2 186611938 rs12618129 G A 500.87 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.028;DB;DP=25;Dels=0.0;FS=3.01;HRun=0;HaplotypeScore=0.0;MQ=59.25;MQ0=0;MQRankSum=-1.581;QD=20.03;ReadPosRankSum=0.638;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FSIP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465275 GT:AD:DP:GQ:PL 0/1:10,15:25:99:531,0,330
2 186625645 rs71411142 TTTGA T 865.93 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.326;DB;DP=30;FS=0.0;HRun=0;HaplotypeScore=198.1899;IndelType=D;MQ=56.38;MQ0=0;MQRankSum=-0.022;QD=28.86;ReadPosRankSum=0.382;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FSIP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326147 GT:AD:DP:GQ:PL 0/1:12,18:30:99:905,0,805
2 186625670 rs143288982 TAA T 253.45 PASS AB=0.72;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.096;DB;DP=36;FS=0.0;HRun=14;HaplotypeScore=259.1647;IndelType=D;MQ=56.68;MQ0=0;MQRankSum=0.361;QD=7.04;ReadPosRankSum=0.399;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FSIP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326147 GT:AD:DP:GQ:PL 0/1:21,13:36:99:292,0,596
2 186625770 rs7562137 A G 795.57 PASS AB=0.514;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.546;DB;DP=70;Dels=0.0;FS=0.889;HRun=0;HaplotypeScore=0.0;MQ=58.67;MQ0=0;MQRankSum=0.076;QD=11.37;ReadPosRankSum=-1.322;SNPEFF_AMINO_ACID_CHANGE=K378;SNPEFF_CODON_CHANGE=aaA/aaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_186625715_186625830;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FSIP2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000326147 GT:AD:DP:GQ:PL 0/1:36,34:70:99:826,0,1030
2 186627943 rs17228441 T C 1821.45 PASS AB=0.504;AC=1;AF=0.50;AN=2;BaseQRankSum=1.406;DB;DP=128;Dels=0.0;FS=5.395;HRun=0;HaplotypeScore=0.9578;MQ=60.0;MQ0=0;MQRankSum=2.158;QD=14.23;ReadPosRankSum=0.379;SNPEFF_AMINO_ACID_CHANGE=I425T;SNPEFF_CODON_CHANGE=aTt/aCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_186627910_186628016;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FSIP2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000326147 GT:AD:DP:GQ:PL 0/1:64,63:128:99:1851,0,1923
2 186628203 rs17228483 G A 218.62 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=0.555;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.101;QD=16.82;ReadPosRankSum=1.2;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FSIP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326147 GT:AD:DP:GQ:PL 0/1:6,7:13:99:249,0,205
2 186629191 rs12998112 T G 642.24 PASS AB=0.359;AC=1;AF=0.50;AN=2;BaseQRankSum=1.361;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.52;MQ0=0;MQRankSum=0.747;QD=16.47;ReadPosRankSum=0.425;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FSIP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326147 GT:AD:DP:GQ:PL 0/1:14,25:39:99:672,0,399
2 186629349 rs1986166 G A 300.33 PASS AB=0.607;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.196;DB;DP=28;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9332;MQ=59.31;MQ0=0;MQRankSum=0.814;QD=10.73;ReadPosRankSum=0.123;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FSIP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326147 GT:AD:DP:GQ:PL 0/1:17,11:28:99:330,0,577
2 186654592 rs992822 A G 430.46 PASS AB=0.541;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.512;DB;DP=37;Dels=0.0;FS=8.415;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.557;QD=11.63;ReadPosRankSum=-1.13;SNPEFF_AMINO_ACID_CHANGE=N910S;SNPEFF_CODON_CHANGE=aAt/aGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_186653370_186662257;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FSIP2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000326147 GT:AD:DP:GQ:PL 0/1:20,17:37:99:460,0,707
2 186655726 rs10931199 G A 2917.49 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.689;DB;DP=81;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=4.6174;MQ=59.43;MQ0=0;MQRankSum=1.386;QD=36.02;ReadPosRankSum=-0.563;SNPEFF_AMINO_ACID_CHANGE=R1288Q;SNPEFF_CODON_CHANGE=cGa/cAa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_186653370_186662257;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FSIP2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000326147 GT:AD:DP:GQ:PL 1/1:1,80:81:99:2950,220,0
2 186656657 rs10173807 C T 1511.89 PASS AB=0.485;AC=1;AF=0.50;AN=2;BaseQRankSum=1.689;DB;DP=101;Dels=0.0;FS=7.926;HRun=0;HaplotypeScore=0.6651;MQ=59.77;MQ0=0;MQRankSum=-0.062;QD=14.97;ReadPosRankSum=-0.359;SNPEFF_AMINO_ACID_CHANGE=N1598;SNPEFF_CODON_CHANGE=aaC/aaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_186653370_186662257;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FSIP2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000326147 GT:AD:DP:GQ:PL 0/1:49,52:101:99:1542,0,1476
2 186656840 rs17815052 T C 2134.83 PASS AB=0.466;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.448;DB;DP=147;Dels=0.0;FS=10.204;HRun=0;HaplotypeScore=1.4972;MQ=60.0;MQ0=0;MQRankSum=-0.733;QD=14.52;ReadPosRankSum=0.745;SNPEFF_AMINO_ACID_CHANGE=N1659;SNPEFF_CODON_CHANGE=aaT/aaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_186653370_186662257;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FSIP2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000326147 GT:AD:DP:GQ:PL 0/1:68,78:147:99:2165,0,2120
2 186656956 rs17229201 T C 1214.60 PASS AB=0.574;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.122;DB;DP=109;Dels=0.0;FS=5.257;HRun=0;HaplotypeScore=0.9665;MQ=60.0;MQ0=0;MQRankSum=0.544;QD=11.14;ReadPosRankSum=-0.687;SNPEFF_AMINO_ACID_CHANGE=M1698T;SNPEFF_CODON_CHANGE=aTg/aCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_186653370_186662257;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FSIP2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000326147 GT:AD:DP:GQ:PL 0/1:62,46:109:99:1245,0,2164
2 186657089 rs17229222 C A 1021.53 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.713;DB;DP=76;Dels=0.0;FS=1.891;HRun=0;HaplotypeScore=0.9916;MQ=59.75;MQ0=0;MQRankSum=-0.09;QD=13.44;ReadPosRankSum=0.112;SNPEFF_AMINO_ACID_CHANGE=S1742;SNPEFF_CODON_CHANGE=tcC/tcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_186653370_186662257;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FSIP2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000326147 GT:AD:DP:GQ:PL 0/1:40,35:76:99:1052,0,1301
2 186658056 rs60029104 G A 1558.54 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=1.717;DB;DP=91;Dels=0.0;FS=3.964;HRun=1;HaplotypeScore=1.6609;MQ=60.0;MQ0=0;MQRankSum=0.946;QD=17.13;ReadPosRankSum=-0.808;SNPEFF_AMINO_ACID_CHANGE=D2065N;SNPEFF_CODON_CHANGE=Gat/Aat;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_186653370_186662257;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FSIP2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000326147 GT:AD:DP:GQ:PL 0/1:40,50:91:99:1589,0,1197
2 186658438 rs10490391 C T 1702.18 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=3.777;DB;DP=122;Dels=0.0;FS=7.063;HRun=0;HaplotypeScore=1.8055;MQ=59.62;MQ0=0;MQRankSum=0.133;QD=13.95;ReadPosRankSum=0.003;SNPEFF_AMINO_ACID_CHANGE=T2192M;SNPEFF_CODON_CHANGE=aCg/aTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_186653370_186662257;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FSIP2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000326147 GT:AD:DP:GQ:PL 0/1:65,57:122:99:1732,0,1966
2 186658565 rs10490392 G T 1155.61 PASS AB=0.541;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.126;DB;DP=85;Dels=0.0;FS=4.183;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.116;QD=13.6;ReadPosRankSum=-0.049;SNPEFF_AMINO_ACID_CHANGE=E2234D;SNPEFF_CODON_CHANGE=gaG/gaT;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_186653370_186662257;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FSIP2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000326147 GT:AD:DP:GQ:PL 0/1:46,39:85:99:1186,0,1470
2 186659359 rs2161036 G T 1029.57 PASS AB=0.547;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.591;DB;DP=75;Dels=0.0;FS=0.893;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.251;QD=13.73;ReadPosRankSum=-0.623;SNPEFF_AMINO_ACID_CHANGE=R2499M;SNPEFF_CODON_CHANGE=aGg/aTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_186653370_186662257;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FSIP2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000326147 GT:AD:DP:GQ:PL 0/1:41,34:75:99:1060,0,1395
2 186661673 rs55938253 A G 1061.07 PASS AB=0.537;AC=1;AF=0.50;AN=2;BaseQRankSum=2.147;DB;DP=82;Dels=0.0;FS=5.938;HRun=0;HaplotypeScore=0.0;MQ=59.26;MQ0=0;MQRankSum=1.73;QD=12.94;ReadPosRankSum=-2.091;SNPEFF_AMINO_ACID_CHANGE=L3270;SNPEFF_CODON_CHANGE=ttA/ttG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_186653370_186662257;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FSIP2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000326147 GT:AD:DP:GQ:PL 0/1:44,38:82:99:1091,0,1466
2 186664368 . G T 167.66 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.794;DP=15;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.447;QD=11.18;ReadPosRankSum=-2.72;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FSIP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326147 GT:AD:DP:GQ:PL 0/1:8,7:15:99:198,0,254
2 186664473 rs11686997 T C 698.31 PASS AB=0.547;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.064;DB;DP=53;Dels=0.0;FS=2.91;HRun=0;HaplotypeScore=0.0;MQ=59.13;MQ0=0;MQRankSum=-0.063;QD=13.18;ReadPosRankSum=0.509;SNPEFF_AMINO_ACID_CHANGE=Y3480;SNPEFF_CODON_CHANGE=taT/taC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_186664424_186673860;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FSIP2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000424728 GT:AD:DP:GQ:PL 0/1:29,24:53:99:728,0,909
2 186664963 rs10931200 C A 1179.64 PASS AB=0.531;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.863;DB;DP=96;Dels=0.0;FS=5.234;HRun=0;HaplotypeScore=0.0;MQ=59.76;MQ0=0;MQRankSum=-0.848;QD=12.29;ReadPosRankSum=0.288;SNPEFF_AMINO_ACID_CHANGE=L3644I;SNPEFF_CODON_CHANGE=Ctt/Att;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_186664424_186673860;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FSIP2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000424728 GT:AD:DP:GQ:PL 0/1:51,45:96:99:1210,0,1541
2 186665432 rs36004074 G A 1666.59 PASS AB=0.496;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.871;DB;DP=129;Dels=0.0;FS=8.041;HRun=4;HaplotypeScore=1.786;MQ=59.46;MQ0=0;MQRankSum=1.764;QD=12.92;ReadPosRankSum=0.365;SNPEFF_AMINO_ACID_CHANGE=G3800E;SNPEFF_CODON_CHANGE=gGa/gAa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_186664424_186673860;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FSIP2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000424728 GT:AD:DP:GQ:PL 0/1:64,65:129:99:1697,0,2012
2 186665824 rs11695215 A G 744.62 PASS AB=0.59;AC=1;AF=0.50;AN=2;BaseQRankSum=1.063;DB;DP=61;Dels=0.0;FS=11.823;HRun=0;HaplotypeScore=1.9982;MQ=60.0;MQ0=0;MQRankSum=-2.002;QD=12.21;ReadPosRankSum=-0.858;SNPEFF_AMINO_ACID_CHANGE=N3931D;SNPEFF_CODON_CHANGE=Aac/Gac;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_186664424_186673860;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FSIP2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000424728 GT:AD:DP:GQ:PL 0/1:36,25:61:99:775,0,1124
2 186667121 rs7605884 T C 771.24 PASS AB=0.554;AC=1;AF=0.50;AN=2;BaseQRankSum=0.848;DB;DP=65;Dels=0.0;FS=4.975;HRun=0;HaplotypeScore=0.9332;MQ=60.0;MQ0=0;MQRankSum=-0.159;QD=11.69;ReadPosRankSum=-0.627;SNPEFF_AMINO_ACID_CHANGE=F4363S;SNPEFF_CODON_CHANGE=tTt/tCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_186664424_186673860;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FSIP2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000424728 GT:AD:DP:GQ:PL 0/1:36,29:65:99:801,0,1167
2 186668935 rs13003744 A G 863.74 PASS AB=0.45;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.62;DB;DP=60;Dels=0.0;FS=1.158;HRun=0;HaplotypeScore=0.5784;MQ=59.23;MQ0=0;MQRankSum=0.16;QD=14.4;ReadPosRankSum=-1.133;SNPEFF_AMINO_ACID_CHANGE=M4968V;SNPEFF_CODON_CHANGE=Atg/Gtg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_186664424_186673860;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FSIP2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000424728 GT:AD:DP:GQ:PL 0/1:27,33:60:99:894,0,886
2 186670104 rs7576532 A C 2835.74 PASS AC=2;AF=1.00;AN=2;DB;DP=85;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.73;MQ0=0;QD=33.36;SNPEFF_AMINO_ACID_CHANGE=E5357D;SNPEFF_CODON_CHANGE=gaA/gaC;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_186664424_186673860;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FSIP2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000424728 GT:AD:DP:GQ:PL 1/1:0,84:85:99:2869,223,0
2 186670780 rs16827154 T A 1189.38 PASS AB=0.494;AC=1;AF=0.50;AN=2;BaseQRankSum=2.081;DB;DP=83;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=-0.369;QD=14.33;ReadPosRankSum=0.824;SNPEFF_AMINO_ACID_CHANGE=Y5583N;SNPEFF_CODON_CHANGE=Tac/Aac;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_186664424_186673860;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FSIP2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000424728 GT:AD:DP:GQ:PL 0/1:41,42:83:99:1219,0,1274
2 186670979 rs4666689 T C 1475.74 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.89;SNPEFF_AMINO_ACID_CHANGE=I5649T;SNPEFF_CODON_CHANGE=aTt/aCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_186664424_186673860;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FSIP2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000424728 GT:AD:DP:GQ:PL 1/1:0,40:40:99:1509,111,0
2 186671256 rs17826498 T C 471.23 PASS AB=0.568;AC=1;AF=0.50;AN=2;BaseQRankSum=0.138;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9995;MQ=60.0;MQ0=0;MQRankSum=0.23;QD=12.74;ReadPosRankSum=-0.904;SNPEFF_AMINO_ACID_CHANGE=N5741;SNPEFF_CODON_CHANGE=aaT/aaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_186664424_186673860;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FSIP2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000424728 GT:AD:DP:GQ:PL 0/1:21,16:37:99:501,0,704
2 186671357 rs17826534 G A 904.87 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=2.568;DB;DP=54;Dels=0.0;FS=3.958;HRun=1;HaplotypeScore=0.0;MQ=59.57;MQ0=0;MQRankSum=-0.548;QD=16.76;ReadPosRankSum=-1.419;SNPEFF_AMINO_ACID_CHANGE=R5775Q;SNPEFF_CODON_CHANGE=cGa/cAa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_186664424_186673860;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FSIP2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000424728 GT:AD:DP:GQ:PL 0/1:24,30:54:99:935,0,625
2 186671912 rs1862066 G A 1244.99 PASS AB=0.464;AC=1;AF=0.50;AN=2;BaseQRankSum=4.269;DB;DP=84;Dels=0.0;FS=4.373;HRun=0;HaplotypeScore=0.9998;MQ=60.0;MQ0=0;MQRankSum=-0.269;QD=14.82;ReadPosRankSum=-0.888;SNPEFF_AMINO_ACID_CHANGE=R5960H;SNPEFF_CODON_CHANGE=cGt/cAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_186664424_186673860;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FSIP2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000424728 GT:AD:DP:GQ:PL 0/1:39,45:84:99:1275,0,1150
2 186672527 rs72900086 T A 674.03 PASS AB=0.478;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.033;DB;DP=46;Dels=0.0;FS=1.145;HRun=1;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=-0.407;QD=14.65;ReadPosRankSum=1.176;SNPEFF_AMINO_ACID_CHANGE=L6165Q;SNPEFF_CODON_CHANGE=cTa/cAa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_186664424_186673860;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FSIP2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000424728 GT:AD:DP:GQ:PL 0/1:22,24:46:99:704,0,700
2 186672897 rs4666690 A G 646.98 PASS AB=0.607;AC=1;AF=0.50;AN=2;BaseQRankSum=1.803;DB;DP=56;Dels=0.0;FS=7.711;HRun=0;HaplotypeScore=0.9947;MQ=60.0;MQ0=0;MQRankSum=-1.502;QD=11.55;ReadPosRankSum=-0.696;SNPEFF_AMINO_ACID_CHANGE=L6288;SNPEFF_CODON_CHANGE=ttA/ttG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_186664424_186673860;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FSIP2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000424728 GT:AD:DP:GQ:PL 0/1:34,22:56:99:677,0,1026
2 186678241 rs79464337 A AT 591.80 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.148;DB;DP=36;FS=0.0;HRun=4;HaplotypeScore=84.5906;IndelType=I;MQ=60.0;MQ0=0;MQRankSum=1.629;QD=16.44;ReadPosRankSum=0.016;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FSIP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343098 GT:AD:DP:GQ:PL 0/1:18,18:36:99:631,0,504
2 186678633 rs17826666 C T 997.94 PASS AB=0.492;AC=1;AF=0.50;AN=2;BaseQRankSum=0.462;DB;DP=59;Dels=0.0;FS=1.053;HRun=1;HaplotypeScore=0.9987;MQ=60.0;MQ0=0;MQRankSum=-0.114;QD=16.91;ReadPosRankSum=0.114;SNPEFF_AMINO_ACID_CHANGE=T6730I;SNPEFF_CODON_CHANGE=aCt/aTt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_186678272_186678769;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FSIP2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000424728 GT:AD:DP:GQ:PL 0/1:29,30:59:99:1028,0,839
2 186678887 rs2161035 T C 72.06 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.637;DB;DP=12;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.536;QD=6.0;ReadPosRankSum=-1.599;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FSIP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343098 GT:AD:DP:GQ:PL 0/1:8,4:12:99:102,0,300
2 186680041 rs2287606 G T 200.07 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.599;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.932;QD=16.67;ReadPosRankSum=-2.18;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FSIP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343098 GT:AD:DP:GQ:PL 0/1:4,8:12:99:230,0,135
2 186697876 rs1468999 A G 1758.57 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.42;SNPEFF_AMINO_ACID_CHANGE=T6883A;SNPEFF_CODON_CHANGE=Act/Gct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_186697817_186698017;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FSIP2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000424728 GT:AD:DP:GQ:PL 1/1:0,47:47:99:1792,132,0
2 187364811 rs4144786 G A 335.22 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.25;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZC3H15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477672 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:368,27,0
2 187364878 rs4144785 A G 157.69 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.042;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.039;QD=7.88;ReadPosRankSum=-0.656;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZC3H15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477672 GT:AD:DP:GQ:PL 0/1:12,8:20:99:188,0,412
2 187369013 rs80210458 T TG 820.37 PASS AC=2;AF=1.00;AN=2;DB;DP=21;FS=0.0;HRun=4;HaplotypeScore=49.9259;IndelType=I;MQ=55.94;MQ0=0;QD=39.07;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC018867.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000396985 GT:AD:DP:GQ:PL 1/1:0,21:21:63.21:862,63,0
2 187369037 rs11309895 GA G 87.25 PASS AB=0.684;AC=1;AF=0.50;AN=2;BaseQRankSum=0.741;DB;DP=13;FS=0.0;HRun=10;HaplotypeScore=71.1643;IndelType=D;MQ=52.45;MQ0=0;MQRankSum=-1.133;QD=6.71;ReadPosRankSum=-0.741;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC018867.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000396985 GT:AD:DP:GQ:PL 0/1:7,6:13:99:126,0,103
2 187370673 rs11690758 G C 99.66 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.91;SNPEFF_AMINO_ACID_CHANGE=W152C;SNPEFF_CODON_CHANGE=tgG/tgC;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_187370467_187370818;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZC3H15;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000544130 GT:AD:DP:GQ:PL 1/1:0,4:4:12.02:132,12,0
2 187373146 rs7558856 G A 87.83 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.28;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZC3H15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421536 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:120,9,0
2 187455278 rs9333287 C T 786.05 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.03;MQ0=0;QD=32.75;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGAV;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000261023 GT:AD:DP:GQ:PL 1/1:0,24:24:63.19:819,63,0
2 187487160 rs9333288 G A 1859.57 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.81;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGAV;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000261023 GT:AD:DP:GQ:PL 1/1:0,55:55:99:1893,138,0
2 187490371 rs2197787 T G 1977.13 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.385;DB;DP=86;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=8.838;MQ=43.08;MQ0=0;MQRankSum=0.503;QD=22.99;ReadPosRankSum=0.049;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGAV;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000261023 GT:AD:DP:GQ:PL 1/1:2,82:86:99:2010,168,0
2 187490388 rs5836986 G GT 1235.59 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.604;DB;DP=77;FS=3.321;HRun=1;HaplotypeScore=1122.6063;IndelType=I;MQ=41.02;MQ0=0;MQRankSum=-1.528;QD=16.05;ReadPosRankSum=1.739;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGAV;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000261023 GT:AD:DP:GQ:PL 1/1:71,6:77:99:1278,123,0
2 187490389 rs5836987 G GTGTGT 3333.67 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.877;DB;DP=75;FS=5.429;HRun=0;HaplotypeScore=1043.4352;IndelType=I;MQ=40.51;MQ0=0;MQRankSum=-0.752;QD=44.45;ReadPosRankSum=2.256;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGAV;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000261023 GT:AD:DP:GQ:PL 1/1:69,5:75:99:3334,124,0
2 187490389 rs28633327 G T 108.46 HaplotypeScoreFilter13;QDFilter2 AC=2;AF=1.00;AN=2;BaseQRankSum=-1.102;DB;DP=77;Dels=0.0;FS=2.36;HRun=0;HaplotypeScore=13.8103;MQ=41.02;MQ0=0;MQRankSum=1.193;QD=1.41;ReadPosRankSum=-2.686;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGAV;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000261023 GT:AD:DP:GQ:PL 1/1:7,70:77:12.03:141,12,0
2 187490405 rs5836988 T TGTGTGTGA 5472.58 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.236;DB;DP=64;FS=0.0;HRun=0;HaplotypeScore=832.712;IndelType=I;MQ=35.92;MQ0=0;MQRankSum=0.817;QD=85.51;ReadPosRankSum=-0.607;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGAV;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000261023 GT:AD:DP:GQ:PL 1/1:21,27:64:99:5473,158,0
2 187497988 rs56088351 A G 312 PASS AB=0.478;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.862;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=58.99;MQ0=0;MQRankSum=0.277;QD=13.57;ReadPosRankSum=1.385;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGAV;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000261023 GT:AD:DP:GQ:PL 0/1:11,12:23:99:342,0,372
2 187501648 rs13430921 A G 119.99 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=0.667;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.2;QD=8.57;ReadPosRankSum=-0.533;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGAV;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000261023 GT:AD:DP:GQ:PL 0/1:9,5:14:99:150,0,320
2 187501682 rs56136540 G A 335.78 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.286;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.55;MQ0=0;MQRankSum=-0.184;QD=20.99;ReadPosRankSum=-0.184;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGAV;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000261023 GT:AD:DP:GQ:PL 0/1:6,10:16:99:366,0,164
2 187502846 rs13422838 T C 41.43 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.026;QD=10.36;ReadPosRankSum=-1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGAV;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000261023 GT:AD:DP:GQ:PL 0/1:2,2:4:67.59:71,0,68
2 187503226 rs4667108 T C 650.64 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=1.254;DB;DP=39;Dels=0.0;FS=4.126;HRun=1;HaplotypeScore=0.0;MQ=58.2;MQ0=0;MQRankSum=0.831;QD=16.68;ReadPosRankSum=1.62;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGAV;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000261023 GT:AD:DP:GQ:PL 0/1:18,21:39:99:681,0,486
2 187505486 rs3816375 A G 32.21 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=10.74;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGAV;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000261023 GT:AD:DP:GQ:PL 0/1:1,2:3:32.20:62,0,32
2 187532010 rs41265951 G T 166.45 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=1.031;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.932;QD=15.13;ReadPosRankSum=2.637;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGAV;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000261023 GT:AD:DP:GQ:PL 0/1:5,6:11:99:196,0,171
2 187532373 rs2595391 T G 749.50 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=4.31;DB;DP=52;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.64;MQ0=0;MQRankSum=0.082;QD=14.41;ReadPosRankSum=0.302;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGAV;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000261023 GT:AD:DP:GQ:PL 0/1:26,26:52:99:779,0,825
2 187532417 rs2230616 G A 2688.44 PASS AC=2;AF=1.00;AN=2;DB;DP=79;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.47;MQ0=0;QD=34.03;SNPEFF_AMINO_ACID_CHANGE=V737I;SNPEFF_CODON_CHANGE=Gtc/Atc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_187532398_187532503;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGAV;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000433736 GT:AD:DP:GQ:PL 1/1:0,79:79:99:2721,199,0
2 187533741 rs2290083 T C 310.07 PASS AB=0.421;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.115;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.124;QD=16.32;ReadPosRankSum=1.445;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGAV;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460641 GT:AD:DP:GQ:PL 0/1:8,11:19:99:340,0,276
2 187558960 rs2276562 G A 251.44 PASS AB=0.214;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.713;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.401;QD=17.96;ReadPosRankSum=-0.778;SNPEFF_AMINO_ACID_CHANGE=L20;SNPEFF_CODON_CHANGE=ctG/ctA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_187558789_187559138;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM171B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000272804 GT:AD:DP:GQ:PL 0/1:3,11:14:88.16:281,0,88
2 187559047 rs2276563 G GCAA 449.66 PASS AC=2;AF=1.00;AN=2;DB;DP=12;FS=0.0;HRun=0;HaplotypeScore=46.0638;IndelType=I;MQ=62.65;MQ0=0;QD=37.47;SNPEFF_AMINO_ACID_CHANGE=-50Q;SNPEFF_CODON_CHANGE=-/CAA;SNPEFF_EFFECT=CODON_INSERTION;SNPEFF_EXON_ID=exon_2_187558789_187559138;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM171B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000272804 GT:AD:DP:GQ:PL 1/1:3,9:12:24.08:492,24,0
2 187604860 . G T 69.11 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.406;DP=6;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.988;QD=11.52;ReadPosRankSum=1.537;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM171B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272804 GT:AD:DP:GQ:PL 0/1:3,3:6:99:99,0,102
2 187608102 rs35021583 T TC 109.17 PASS AB=0.706;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.637;DB;DP=12;FS=0.0;HRun=7;HaplotypeScore=24.0278;IndelType=I;MQ=60.0;MQ0=0;MQRankSum=-0.387;QD=9.1;ReadPosRankSum=-0.387;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM171B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272804 GT:AD:DP:GQ:PL 0/1:7,5:12:99:148,0,141
2 187611748 rs2247924 G A 1572.89 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.8606;MQ=58.95;MQ0=0;QD=35.75;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM171B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272804 GT:AD:DP:GQ:PL 1/1:0,44:44:99:1606,126,0
2 187627567 rs2595381 G A 543.55 PASS AB=0.475;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.275;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9993;MQ=60.0;MQ0=0;MQRankSum=0.731;QD=13.59;ReadPosRankSum=-1.95;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM171B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272804 GT:AD:DP:GQ:PL 0/1:19,21:40:99:574,0,606
2 187692908 rs17852916 T G 742.63 PASS AB=0.447;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.273;DB;DP=47;Dels=0.0;FS=4.094;HRun=0;HaplotypeScore=0.0;MQ=56.47;MQ0=0;MQRankSum=0.974;QD=15.8;ReadPosRankSum=0.203;SNPEFF_AMINO_ACID_CHANGE=R569;SNPEFF_CODON_CHANGE=Aga/Cga;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_187692562_187693517;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZSWIM2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000295131 GT:AD:DP:GQ:PL 0/1:21,26:47:99:773,0,666
2 187692983 rs17856918 T C 521.48 PASS AB=0.512;AC=1;AF=0.50;AN=2;BaseQRankSum=0.228;DB;DP=43;Dels=0.0;FS=14.179;HRun=2;HaplotypeScore=1.6649;MQ=54.39;MQ0=0;MQRankSum=0.41;QD=12.13;ReadPosRankSum=-0.988;SNPEFF_AMINO_ACID_CHANGE=M544V;SNPEFF_CODON_CHANGE=Atg/Gtg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_187692562_187693517;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZSWIM2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000295131 GT:AD:DP:GQ:PL 0/1:22,21:43:99:551,0,597
2 187693003 rs10195632 A T 453.91 PASS AB=0.541;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.93;DB;DP=37;Dels=0.0;FS=10.736;HRun=0;HaplotypeScore=0.9469;MQ=52.72;MQ0=0;MQRankSum=0.276;QD=12.27;ReadPosRankSum=-0.069;SNPEFF_AMINO_ACID_CHANGE=F537Y;SNPEFF_CODON_CHANGE=tTt/tAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_187692562_187693517;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZSWIM2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000295131 GT:AD:DP:GQ:PL 0/1:20,17:37:99:484,0,569
2 187693044 rs17852915 C T 538.79 PASS AB=0.344;AC=1;AF=0.50;AN=2;BaseQRankSum=0.475;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=54.74;MQ0=0;MQRankSum=0.805;QD=16.84;ReadPosRankSum=-0.64;SNPEFF_AMINO_ACID_CHANGE=V523;SNPEFF_CODON_CHANGE=gtG/gtA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_187692562_187693517;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZSWIM2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000295131 GT:AD:DP:GQ:PL 0/1:11,21:32:99:569,0,342
2 187693104 rs10172225 C T 588.10 PASS AB=0.486;AC=1;AF=0.50;AN=2;BaseQRankSum=0.539;DB;DP=37;Dels=0.0;FS=9.491;HRun=0;HaplotypeScore=0.0;MQ=56.81;MQ0=0;MQRankSum=0.063;QD=15.89;ReadPosRankSum=-1.616;SNPEFF_AMINO_ACID_CHANGE=V503;SNPEFF_CODON_CHANGE=gtG/gtA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_187692562_187693517;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZSWIM2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000295131 GT:AD:DP:GQ:PL 0/1:18,19:37:99:618,0,536
2 187693155 rs10195758 A T 535.46 PASS AB=0.565;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.108;DB;DP=46;Dels=0.0;FS=6.662;HRun=1;HaplotypeScore=0.0;MQ=58.48;MQ0=0;MQRankSum=2.09;QD=11.64;ReadPosRankSum=0.697;SNPEFF_AMINO_ACID_CHANGE=D486E;SNPEFF_CODON_CHANGE=gaT/gaA;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_187692562_187693517;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZSWIM2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000295131 GT:AD:DP:GQ:PL 0/1:26,20:46:99:565,0,877
2 187693521 rs71953407 TA T 254.59 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=3.325;DB;DP=21;FS=6.107;HRun=8;HaplotypeScore=52.3472;IndelType=D;MQ=60.0;MQ0=0;MQRankSum=0.515;QD=12.12;ReadPosRankSum=-0.983;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZSWIM2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295131 GT:AD:DP:GQ:PL 0/1:9,12:21:99:294,0,163
2 187694410 rs6745572 C T 249.32 PASS AB=0.412;AC=1;AF=0.50;AN=2;BaseQRankSum=1.317;DB;DP=17;Dels=0.0;FS=2.271;HRun=1;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=0.049;QD=14.67;ReadPosRankSum=0.244;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZSWIM2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295131 GT:AD:DP:GQ:PL 0/1:7,10:17:99:279,0,210
2 187697883 rs10164815 A G 300.65 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.917;DB;DP=33;Dels=0.0;FS=4.232;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.094;QD=9.11;ReadPosRankSum=-0.468;SNPEFF_AMINO_ACID_CHANGE=I302T;SNPEFF_CODON_CHANGE=aTt/aCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_187697847_187697959;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZSWIM2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000295131 GT:AD:DP:GQ:PL 0/1:21,12:33:99:331,0,714
2 187697996 rs10188850 C T 131.61 PASS AB=0.688;AC=1;AF=0.50;AN=2;BaseQRankSum=3.059;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=8.23;ReadPosRankSum=0.906;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZSWIM2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295131 GT:AD:DP:GQ:PL 0/1:11,5:16:99:162,0,335
2 187698019 rs10189037 G T 145.96 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.103;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.103;QD=14.6;ReadPosRankSum=0.336;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZSWIM2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295131 GT:AD:DP:GQ:PL 0/1:5,5:10:99:176,0,161
2 187698037 rs7609183 G A 212.08 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.35;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZSWIM2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295131 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:245,18,0
2 187698053 rs10188869 C T 81.44 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9997;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=20.36;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZSWIM2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295131 GT:AD:DP:GQ:PL 0/1:1,3:4:27.28:111,0,27
2 187698707 rs6434197 C T 171.32 PASS AB=0.727;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.001;DB;DP=33;Dels=0.0;FS=1.527;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.384;QD=5.19;ReadPosRankSum=0.707;SNPEFF_AMINO_ACID_CHANGE=C265Y;SNPEFF_CODON_CHANGE=tGc/tAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_187698673_187698757;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZSWIM2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000295131 GT:AD:DP:GQ:PL 0/1:24,9:33:99:201,0,694
2 187712724 rs6750068 A T 44.87 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.44;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZSWIM2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295131 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:76,6,0
2 188216783 rs858744 C T 724.15 PASS AB=0.442;AC=1;AF=0.50;AN=2;BaseQRankSum=0.306;DB;DP=43;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.4725;MQ=59.46;MQ0=0;MQRankSum=-0.868;QD=16.84;ReadPosRankSum=0.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CALCRL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392370 GT:AD:DP:GQ:PL 0/1:19,24:43:99:754,0,621
2 188216807 rs858745 T C 1547.05 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9867;MQ=59.49;MQ0=0;QD=34.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CALCRL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392370 GT:AD:DP:GQ:PL 1/1:0,45:45:99:1580,123,0
2 188224057 rs1706287 A G 89.84 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.46;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CALCRL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392370 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:122,9,0
2 188227921 rs698582 A G 76.68 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=12.78;ReadPosRankSum=-0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CALCRL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392370 GT:AD:DP:GQ:PL 0/1:2,4:6:68.94:107,0,69
2 188243633 rs3771084 A G 900.71 PASS AB=0.459;AC=1;AF=0.50;AN=2;BaseQRankSum=2.887;DB;DP=61;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.8053;MQ=59.62;MQ0=0;MQRankSum=-0.485;QD=14.77;ReadPosRankSum=-0.311;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CALCRL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000410102 GT:AD:DP:GQ:PL 0/1:28,33:61:99:931,0,826
2 188245640 rs1511877 G A 47.34 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.67;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CALCRL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000410102 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
2 188250301 rs698577 T A 1404.94 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.6643;MQ=60.0;MQ0=0;QD=35.12;SNPEFF_AMINO_ACID_CHANGE=N8Y;SNPEFF_CODON_CHANGE=Aat/Tat;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_188250272_188250358;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CALCRL;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000392370 GT:AD:DP:GQ:PL 1/1:0,40:40:99:1438,105,0
2 188332692 rs8176592 A G 397.37 PASS AB=0.435;AC=1;AF=0.50;AN=2;BaseQRankSum=0.465;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=60.0;MQ0=0;MQRankSum=-0.403;QD=17.28;ReadPosRankSum=1.085;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TFPI;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233156 GT:AD:DP:GQ:PL 0/1:10,13:23:99:427,0,345
2 188343497 rs7586970 T C 328.36 PASS AB=0.594;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.11;DB;DP=32;Dels=0.0;FS=3.093;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.077;QD=10.26;ReadPosRankSum=-0.115;SNPEFF_AMINO_ACID_CHANGE=N221S;SNPEFF_CODON_CHANGE=aAt/aGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_188343312_188343530;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TFPI;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000339091 GT:AD:DP:GQ:PL 0/1:19,13:32:99:358,0,527
2 188348670 rs3213739 T G 83.18 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.73;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TFPI;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233156 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:115,9,0
2 189446818 rs1354906 T C 101.12 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.731;QD=20.22;ReadPosRankSum=0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GULP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359135 GT:AD:DP:GQ:PL 0/1:1,4:5:24.98:131,0,25
2 189448896 rs2048138 A T 1123.49 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.43;MQ0=0;QD=34.05;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GULP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359135 GT:AD:DP:GQ:PL 1/1:0,33:33:93.29:1156,93,0
2 189853350 . C G 470.29 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.78;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9933;MQ=60.0;MQ0=0;MQRankSum=0.684;QD=13.06;ReadPosRankSum=-0.653;SNPEFF_AMINO_ACID_CHANGE=P206R;SNPEFF_CODON_CHANGE=cCt/cGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_189853316_189853369;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL3A1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000304636 GT:AD:DP:GQ:PL 0/1:16,20:36:99:500,0,513
2 189862048 rs7579815 G C 700.96 PASS AB=0.603;AC=1;AF=0.50;AN=2;BaseQRankSum=0.861;DB;DP=63;Dels=0.0;FS=5.076;HRun=0;HaplotypeScore=1.9134;MQ=59.63;MQ0=0;MQRankSum=-1.004;QD=11.13;ReadPosRankSum=-1.148;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL3A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304636 GT:AD:DP:GQ:PL 0/1:38,25:63:99:731,0,1223
2 189862097 rs7579903 G A 863.10 PASS AB=0.531;AC=1;AF=0.50;AN=2;BaseQRankSum=3.464;DB;DP=64;Dels=0.0;FS=5.316;HRun=1;HaplotypeScore=0.7887;MQ=59.64;MQ0=0;MQRankSum=0.397;QD=13.49;ReadPosRankSum=1.85;SNPEFF_AMINO_ACID_CHANGE=Q617;SNPEFF_CODON_CHANGE=caG/caA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_189862062_189862115;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL3A1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000304636 GT:AD:DP:GQ:PL 0/1:34,30:64:99:893,0,1077
2 189862203 rs3134654 C T 611.06 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.55;MQ0=0;QD=38.19;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL3A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304636 GT:AD:DP:GQ:PL 1/1:0,16:16:48.16:644,48,0
2 189863389 rs13306272 C T 285.78 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.929;DB;DP=27;Dels=0.0;FS=1.598;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.591;QD=10.58;ReadPosRankSum=-1.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL3A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304636 GT:AD:DP:GQ:PL 0/1:15,12:27:99:316,0,447
2 189864080 rs1800255 G A 203.32 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.278;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.246;QD=16.94;ReadPosRankSum=2.228;SNPEFF_AMINO_ACID_CHANGE=A698T;SNPEFF_CODON_CHANGE=Gct/Act;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_189864011_189864109;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL3A1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000304636 GT:AD:DP:GQ:PL 0/1:4,8:12:99:233,0,114
2 189864582 rs1801184 T C 77.96 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=1.638;DB;DP=9;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.421;QD=8.66;ReadPosRankSum=0.922;SNPEFF_AMINO_ACID_CHANGE=G748;SNPEFF_CODON_CHANGE=ggT/ggC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_189864568_189864621;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL3A1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000304636 GT:AD:DP:GQ:PL 0/1:5,4:9:99:108,0,102
2 189866199 rs2271682 T A 2113.76 PASS AB=0.45;AC=1;AF=0.50;AN=2;BaseQRankSum=4.77;DB;DP=129;Dels=0.0;FS=6.631;HRun=1;HaplotypeScore=3.685;MQ=59.5;MQ0=0;MQRankSum=0.32;QD=16.39;ReadPosRankSum=-0.542;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL3A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304636 GT:AD:DP:GQ:PL 0/1:58,71:129:99:2144,0,1812
2 189874873 rs10204508 C A 497.71 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=1.387;DB;DP=36;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9867;MQ=60.0;MQ0=0;MQRankSum=-0.437;QD=13.83;ReadPosRankSum=0.551;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL3A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304636 GT:AD:DP:GQ:PL 0/1:15,20:36:99:528,0,451
2 189875421 rs1516446 T G 1908 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.58;MQ0=0;QD=34.69;SNPEFF_AMINO_ACID_CHANGE=H1050Q;SNPEFF_CODON_CHANGE=caT/caG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_189875374_189875616;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL3A1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000317840 GT:AD:DP:GQ:PL 1/1:0,55:55:99:1941,141,0
2 189899541 rs4666770 T C 690.76 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.54;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL5A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374866 GT:AD:DP:GQ:PL 1/1:0,20:20:54.17:724,54,0
2 189899572 rs7420715 T C 1002.09 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.4;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL5A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374866 GT:AD:DP:GQ:PL 1/1:0,30:30:75.25:1035,75,0
2 189901295 rs12693526 G A 345.34 PASS AB=0.353;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.151;DB;DP=17;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=-0.05;QD=20.31;ReadPosRankSum=-1.859;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL5A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374866 GT:AD:DP:GQ:PL 0/1:6,11:17:99:375,0,200
2 189904203 rs10208525 A G 354.96 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.381;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=2.02;QD=14.79;ReadPosRankSum=-0.732;SNPEFF_AMINO_ACID_CHANGE=Y1240;SNPEFF_CODON_CHANGE=taT/taC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_189903998_189904289;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL5A2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000374866 GT:AD:DP:GQ:PL 0/1:10,14:24:99:385,0,318
2 189904233 rs10197596 T G 309.21 PASS AB=0.423;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.958;DB;DP=26;Dels=0.0;FS=3.619;HRun=1;HaplotypeScore=0.9916;MQ=60.0;MQ0=0;MQRankSum=0.356;QD=11.89;ReadPosRankSum=1.177;SNPEFF_AMINO_ACID_CHANGE=T1230;SNPEFF_CODON_CHANGE=acA/acC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_189903998_189904289;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL5A2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000374866 GT:AD:DP:GQ:PL 0/1:11,15:26:99:339,0,339
2 189904413 rs72902330 C T 40.43 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=10.11;ReadPosRankSum=-1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL5A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374866 GT:AD:DP:GQ:PL 0/1:2,2:4:63.86:70,0,64
2 189907272 rs10207530 T C 44.27 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=14.76;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL5A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374866 GT:AD:DP:GQ:PL 0/1:1,2:3:32.20:74,0,32
2 189907676 rs13392501 A G 35.86 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.026;QD=8.96;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL5A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374866 GT:AD:DP:GQ:PL 0/1:2,2:4:65.85:66,0,71
2 189907937 rs6434312 A G 1218.06 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.05;SNPEFF_AMINO_ACID_CHANGE=G1137;SNPEFF_CODON_CHANGE=ggT/ggC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_189907877_189907984;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL5A2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000374866 GT:AD:DP:GQ:PL 1/1:0,38:38:96.29:1251,96,0
2 189910066 rs145676026 ATG A 107.64 PASS AB=0.722;AC=1;AF=0.50;AN=2;BaseQRankSum=1.453;DB;DP=13;FS=0.0;HRun=0;HaplotypeScore=54.6422;IndelType=D;MQ=58.2;MQ0=0;MQRankSum=-0.676;QD=8.28;ReadPosRankSum=-0.47;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL5A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374866 GT:AD:DP:GQ:PL 0/1:8,5:13:99:147,0,195
2 189917092 rs72902380 C T 64.48 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=2.054;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.573;QD=7.16;ReadPosRankSum=1.683;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL5A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470524 GT:AD:DP:GQ:PL 0/1:6,3:9:94.47:94,0,180
2 189918337 rs6750027 T C 329.31 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.93;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL5A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470524 GT:AD:DP:GQ:PL 1/1:0,10:10:27.09:362,27,0
2 189918787 rs6738371 C T 117.28 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.898;DB;DP=15;Dels=0.0;FS=9.961;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.674;QD=7.82;ReadPosRankSum=-0.061;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL5A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470524 GT:AD:DP:GQ:PL 0/1:10,5:15:99:147,0,361
2 189922920 rs72902385 A T 49.41 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.7;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL5A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374866 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
2 189923104 rs7556733 A G 749.26 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.89;MQ0=0;QD=35.68;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL5A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374866 GT:AD:DP:GQ:PL 1/1:0,21:21:60.18:782,60,0
2 189923401 rs10178611 T C 78.07 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.72;DB;DP=6;Dels=0.0;FS=3.31;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.72;QD=13.01;ReadPosRankSum=-0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL5A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374866 GT:AD:DP:GQ:PL 0/1:2,4:6:67.19:108,0,67
2 189923434 rs12989558 A C 35.86 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.026;QD=8.96;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL5A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374866 GT:AD:DP:GQ:PL 0/1:2,2:4:65.85:66,0,68
2 189923630 rs67306642 AT A 497.50 PASS AC=2;AF=1.00;AN=2;DB;DP=32;FS=0.0;HRun=12;HaplotypeScore=106.8299;IndelType=D;MQ=58.44;MQ0=0;QD=15.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL5A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374866 GT:AD:DP:GQ:PL 1/1:7,23:32:70.75:540,71,0
2 189925548 rs6414122 T A 913.60 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9832;MQ=58.45;MQ0=0;QD=27.68;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL5A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374866 GT:AD:DP:GQ:PL 1/1:0,33:33:69.23:947,69,0
2 189927506 rs7424947 C G 874.52 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.23;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL5A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374866 GT:AD:DP:GQ:PL 1/1:0,28:28:78.20:908,78,0
2 189928834 rs74497802 TG T 209.74 PASS AB=0.682;AC=1;AF=0.50;AN=2;BaseQRankSum=2.372;DB;DP=15;FS=0.0;HRun=1;HaplotypeScore=40.3714;IndelType=D;MQ=60.0;MQ0=0;MQRankSum=-0.637;QD=13.98;ReadPosRankSum=0.289;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL5A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374866 GT:AD:DP:GQ:PL 0/1:8,7:15:99:249,0,326
2 189930854 rs6434316 G A 46.38 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.19;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL5A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374866 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:78,6,0
2 189932831 rs2229495 T C 1988.65 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.2;MQ0=0;QD=34.29;SNPEFF_AMINO_ACID_CHANGE=P437;SNPEFF_CODON_CHANGE=ccA/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_189932741_189932839;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL5A2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000374866 GT:AD:DP:GQ:PL 1/1:0,58:58:99:2022,159,0
2 189933686 rs72904419 G A 116.93 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=1.3;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.55;QD=16.7;ReadPosRankSum=1.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL5A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374866 GT:AD:DP:GQ:PL 0/1:3,4:7:88.15:147,0,88
2 189936687 rs6434317 T G 149.44 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=1.652;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9832;MQ=60.0;MQ0=0;MQRankSum=0.361;QD=16.6;ReadPosRankSum=1.652;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL5A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374866 GT:AD:DP:GQ:PL 0/1:4,5:9:99:179,0,133
2 189943121 rs67456396 GA G 582.12 PASS AC=2;AF=1.00;AN=2;DB;DP=37;FS=0.0;HRun=12;HaplotypeScore=181.3952;IndelType=D;MQ=58.33;MQ0=0;QD=15.73;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL5A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374866 GT:AD:DP:GQ:PL 1/1:3,31:37:85.78:624,86,0
2 189945654 rs57206096 T G 453.17 PASS AB=0.575;AC=1;AF=0.50;AN=2;BaseQRankSum=1.423;DB;DP=40;Dels=0.0;FS=1.964;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.328;QD=11.33;ReadPosRankSum=0.629;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL5A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374866 GT:AD:DP:GQ:PL 0/1:23,17:40:99:483,0,780
2 189948549 rs55711740 T C 40.95 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=13.65;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL5A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374866 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:72,6,0
2 189948651 rs55963648 G T 209.34 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=0.42;DB;DP=24;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.613;QD=8.72;ReadPosRankSum=-1.001;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL5A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374866 GT:AD:DP:GQ:PL 0/1:15,9:24:99:239,0,517
2 189948696 rs56310996 G A 493.35 PASS AB=0.548;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.834;DB;DP=42;Dels=0.0;FS=6.94;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.101;QD=11.75;ReadPosRankSum=0.809;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL5A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374866 GT:AD:DP:GQ:PL 0/1:23,19:42:99:523,0,805
2 189949759 rs58532741 C T 43.38 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=14.46;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL5A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374866 GT:AD:DP:GQ:PL 0/1:1,2:3:33.20:73,0,33
2 189950556 rs60355473 G A 404.28 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.51;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.113;QD=13.48;ReadPosRankSum=-0.196;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL5A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374866 GT:AD:DP:GQ:PL 0/1:15,15:30:99:434,0,468
2 189953508 rs58106884 C T 482.78 PASS AB=0.609;AC=1;AF=0.50;AN=2;BaseQRankSum=2.446;DB;DP=46;Dels=0.0;FS=2.912;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.925;QD=10.5;ReadPosRankSum=-0.667;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL5A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374866 GT:AD:DP:GQ:PL 0/1:28,18:46:99:513,0,782
2 189953551 rs58243388 G A 428.55 PASS AB=0.531;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.576;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.139;QD=13.39;ReadPosRankSum=-0.734;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL5A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374866 GT:AD:DP:GQ:PL 0/1:17,15:32:99:459,0,598
2 189962199 rs72906358 A G 83.66 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=20.92;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL5A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374866 GT:AD:DP:GQ:PL 0/1:1,3:4:29.19:114,0,29
2 189964747 rs55977069 G T 218.57 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.312;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8941;MQ=58.33;MQ0=0;MQRankSum=-1.093;QD=15.61;ReadPosRankSum=0.101;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL5A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374866 GT:AD:DP:GQ:PL 0/1:6,8:14:99:249,0,208
2 189964891 rs56380683 A G 507.64 PASS AB=0.421;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.582;DB;DP=38;Dels=0.0;FS=3.268;HRun=0;HaplotypeScore=0.0;MQ=59.39;MQ0=0;MQRankSum=-0.961;QD=13.36;ReadPosRankSum=1.434;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL5A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374866 GT:AD:DP:GQ:PL 0/1:16,22:38:99:538,0,461
2 189964970 rs55765720 T A 48.14 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=0.296;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.386;QD=4.81;ReadPosRankSum=-0.546;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL5A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374866 GT:AD:DP:GQ:PL 0/1:7,3:10:78.13:78,0,241
2 189968808 rs147860045 TA T 154.37 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=1.813;DB;DP=12;FS=0.0;HRun=2;HaplotypeScore=28.7942;IndelType=D;MQ=61.78;MQ0=0;MQRankSum=0.869;QD=12.86;ReadPosRankSum=-0.583;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL5A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374866 GT:AD:DP:GQ:PL 0/1:6,6:12:99:193,0,213
2 189974794 rs4128538 G A 406.75 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.9;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL5A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374866 GT:AD:DP:GQ:PL 1/1:0,12:12:36.08:440,36,0
2 189974958 rs4128539 G T 2795.11 PASS AC=2;AF=1.00;AN=2;DB;DP=82;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.54;MQ0=0;QD=34.09;SNPEFF_AMINO_ACID_CHANGE=T105;SNPEFF_CODON_CHANGE=acC/acA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_189974951_189975175;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL5A2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000374866 GT:AD:DP:GQ:PL 1/1:0,82:82:99:2828,217,0
2 190313396 rs6738193 A G 104.32 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.717;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.09;MQ0=0;MQRankSum=-0.825;QD=9.48;ReadPosRankSum=-0.387;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR75;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000314761 GT:AD:DP:GQ:PL 0/1:6,5:11:99:134,0,212
2 190319990 rs1224958 A G 1037 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.2;MQ0=0;QD=35.76;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR75;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475596 GT:AD:DP:GQ:PL 1/1:0,29:29:81.26:1070,81,0
2 190323376 rs2289225 A G 189.61 PASS AB=0.65;AC=1;AF=0.50;AN=2;BaseQRankSum=1.664;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.84;MQ0=0;MQRankSum=0.792;QD=9.48;ReadPosRankSum=0.079;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR75;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472286 GT:AD:DP:GQ:PL 0/1:13,7:20:99:220,0,460
2 190327126 rs2304702 C G 643.67 PASS AB=0.412;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.332;DB;DP=34;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.6809;MQ=60.0;MQ0=0;MQRankSum=0.857;QD=18.93;ReadPosRankSum=0.927;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR75;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000314761 GT:AD:DP:GQ:PL 0/1:14,20:34:99:674,0,446
2 190327400 rs2304701 T C 594.95 PASS AB=0.512;AC=1;AF=0.50;AN=2;BaseQRankSum=1.656;DB;DP=41;Dels=0.0;FS=4.643;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.796;QD=14.51;ReadPosRankSum=0.117;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR75;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000314761 GT:AD:DP:GQ:PL 0/1:21,20:41:99:625,0,729
2 190437482 rs72209802 C CA 951.94 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.444;DB;DP=56;FS=7.621;HRun=11;HaplotypeScore=212.8915;IndelType=I;MQ=58.59;MQ0=0;MQRankSum=0.259;QD=17.0;ReadPosRankSum=1.849;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC40A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418714 GT:AD:DP:GQ:PL 1/1:14,38:56:17.57:994,18,0
2 190444392 rs1123109 T C 332.96 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC40A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427419 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:366,27,0
2 190444630 rs1439816 C G 1295.34 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.87;MQ0=0;QD=35.01;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC40A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000261024 GT:AD:DP:GQ:PL 1/1:0,37:37:96.31:1328,96,0
2 190445194 rs11568351 G C 1539.49 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9967;MQ=60.0;MQ0=0;QD=29.05;SNPEFF_AMINO_ACID_CHANGE=P72R;SNPEFF_CODON_CHANGE=cCt/cGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_190445144_190445288;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC40A1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000481497 GT:AD:DP:GQ:PL 1/1:0,52:53:99:1572,126,0
2 190445284 rs13008848 C G 820.36 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.29;SNPEFF_AMINO_ACID_CHANGE=C42S;SNPEFF_CODON_CHANGE=tGc/tCc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_190445144_190445288;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC40A1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000481497 GT:AD:DP:GQ:PL 1/1:0,22:22:63.21:853,63,0
2 190531426 rs1437880 G A 2777.81 PASS AC=2;AF=1.00;AN=2;DB;DP=79;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.82;MQ0=0;QD=35.16;SNPEFF_AMINO_ACID_CHANGE=G190R;SNPEFF_CODON_CHANGE=Gga/Aga;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_190530767_190532322;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASNSD1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000260952 GT:AD:DP:GQ:PL 1/1:0,79:79:99:2811,205,0
2 190535538 rs893782 C T 170.81 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.16;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASNSD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420250 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:204,15,0
2 190554759 rs62185872 T A 117.53 PASS AB=0.688;AC=1;AF=0.50;AN=2;BaseQRankSum=1.164;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9654;MQ=58.55;MQ0=0;MQRankSum=-1.164;QD=7.35;ReadPosRankSum=-0.551;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ANKAR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281412 GT:AD:DP:GQ:PL 0/1:11,5:16:99:148,0,376
2 190556898 rs16831873 C T 77.37 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.231;QD=15.47;ReadPosRankSum=-0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ANKAR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281412 GT:AD:DP:GQ:PL 0/1:2,3:5:67.83:107,0,68
2 190570001 rs11319823 TA T 895.20 PASS AC=2;AF=1.00;AN=2;DB;DP=40;FS=0.0;HRun=10;HaplotypeScore=109.3247;IndelType=D;MQ=60.77;MQ0=0;QD=22.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ANKAR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281412 GT:AD:DP:GQ:PL 1/1:4,36:40:99:937,108,0
2 190593168 rs3067424 ATTTTT A 565.92 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=3.062;DB;DP=20;FS=0.0;HRun=5;HaplotypeScore=114.292;IndelType=D;MQ=56.95;MQ0=0;MQRankSum=-1.096;QD=28.3;ReadPosRankSum=-0.643;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ANKAR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281412 GT:AD:DP:GQ:PL 0/1:10,10:20:99:605,0,875
2 190593311 rs1225087 C G 808.86 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.7;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ANKAR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281412 GT:AD:DP:GQ:PL 1/1:0,24:24:63.21:842,63,0
2 190595258 rs1225090 G T 1117.84 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.36;MQ0=0;QD=31.05;SNPEFF_AMINO_ACID_CHANGE=L1006F;SNPEFF_CODON_CHANGE=ttG/ttT;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_190595221_190595327;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ANKAR;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000431575 GT:AD:DP:GQ:PL 1/1:0,36:36:87.28:1151,87,0
2 190602513 rs1225099 T C 1685.17 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.57;MQ0=0;QD=31.21;SNPEFF_AMINO_ACID_CHANGE=F1105;SNPEFF_CODON_CHANGE=ttT/ttC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_190602409_190602567;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ANKAR;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000431575 GT:AD:DP:GQ:PL 1/1:0,54:54:99:1718,138,0
2 190603201 rs111580509 T TA 386.73 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.598;DB;DP=28;FS=0.0;HRun=10;HaplotypeScore=85.0928;IndelType=I;MQ=59.95;MQ0=0;MQRankSum=-1.462;QD=13.81;ReadPosRankSum=-1.091;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ANKAR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281412 GT:AD:DP:GQ:PL 0/1:12,16:28:99:426,0,212
2 190610796 rs2254144 A G 90.27 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.09;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OSGEPL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264151 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:122,9,0
2 190610890 rs2254146 G A 528.60 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.24;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OSGEPL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264151 GT:AD:DP:GQ:PL 1/1:0,15:15:42.13:562,42,0
2 190611084 rs13002216 T C 2596.32 PASS AB=0.518;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.284;DB;DP=195;Dels=0.0;FS=11.041;HRun=0;HaplotypeScore=5.2765;MQ=59.88;MQ0=0;MQRankSum=-0.945;QD=13.31;ReadPosRankSum=0.93;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OSGEPL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264151 GT:AD:DP:GQ:PL 0/1:101,94:195:99:2626,0,3069
2 190611414 rs2254166 T C 449 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.54;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ANKAR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281412 GT:AD:DP:GQ:PL 1/1:0,13:13:36.11:482,36,0
2 190611459 rs2254167 A G 152.12 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.35;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ANKAR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281412 GT:AD:DP:GQ:PL 1/1:0,5:6:15.05:185,15,0
2 190615176 rs67364820 AG A 226 PASS AC=2;AF=1.00;AN=2;DB;DP=11;FS=0.0;HRun=1;HaplotypeScore=69.5389;IndelType=D;MQ=60.0;MQ0=0;QD=20.55;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ANKAR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281412 GT:AD:DP:GQ:PL 1/1:0,11:11:32.94:268,33,0
2 190617643 rs2243876 A G 4979.64 PASS AC=2;AF=1.00;AN=2;DB;DP=146;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.3404;MQ=59.37;MQ0=0;QD=34.11;SNPEFF_AMINO_ACID_CHANGE=N342;SNPEFF_CODON_CHANGE=aaT/aaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_190617575_190617705;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OSGEPL1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000264151 GT:AD:DP:GQ:PL 1/1:0,145:146:99:4980,376,0
2 190620492 rs2244190 G A 174.78 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.96;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ANKAR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000476208 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:208,15,0
2 190620504 rs2278591 C G 75.02 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=18.76;ReadPosRankSum=0.727;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ANKAR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000476208 GT:AD:DP:GQ:PL 0/1:1,3:4:24.94:105,0,25
2 190636411 rs6942 C G 303.44 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.034;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.294;QD=25.29;ReadPosRankSum=0.37;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ORMDL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409519 GT:AD:DP:GQ:PL 0/1:3,9:12:90.93:333,0,91
2 190640475 rs3816196 A G 374.83 PASS AB=0.515;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.063;DB;DP=33;Dels=0.0;FS=3.581;HRun=0;HaplotypeScore=0.0;MQ=59.3;MQ0=0;MQRankSum=0.883;QD=11.36;ReadPosRankSum=-0.955;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC013468.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000424876 GT:AD:DP:GQ:PL 0/1:17,16:33:99:405,0,549
2 190647108 rs10168387 T C 433.94 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.05;MQ0=0;QD=36.16;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ORMDL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000325795 GT:AD:DP:GQ:PL 1/1:0,12:12:36.12:467,36,0
2 190660536 rs143323454 G T 224.03 PASS AB=0.658;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.625;DB;DP=38;Dels=0.0;FS=3.227;HRun=0;HaplotypeScore=0.9958;MQ=59.39;MQ0=0;MQRankSum=-0.939;QD=5.9;ReadPosRankSum=-0.684;SNPEFF_AMINO_ACID_CHANGE=G58;SNPEFF_CODON_CHANGE=ggG/ggT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_190660495_190660677;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PMS1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000374826 GT:AD:DP:GQ:PL 0/1:25,13:38:99:254,0,838
2 190660537 rs143265397 G A 223.99 PASS AB=0.658;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.448;DB;DP=38;Dels=0.0;FS=3.227;HRun=1;HaplotypeScore=0.9958;MQ=59.39;MQ0=0;MQRankSum=-0.652;QD=5.89;ReadPosRankSum=-0.62;SNPEFF_AMINO_ACID_CHANGE=E59K;SNPEFF_CODON_CHANGE=Gag/Aag;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_190660495_190660677;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PMS1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000374826 GT:AD:DP:GQ:PL 0/1:25,13:38:99:254,0,842
2 190670539 rs28381987 T TA 562 PASS AB=0.679;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.724;DB;DP=53;FS=6.559;HRun=11;HaplotypeScore=154.5454;IndelType=I;MQ=60.38;MQ0=0;MQRankSum=1.754;QD=10.6;ReadPosRankSum=-0.557;SNPEFF_EFFECT=FRAME_SHIFT;SNPEFF_EXON_ID=exon_2_190670378_190671780;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PMS1;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000409985 GT:AD:DP:GQ:PL 0/1:28,25:53:99:601,0,372
2 190670730 rs114656673 A G 183.01 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=22.88;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PMS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374826 GT:AD:DP:GQ:PL 0/1:2,6:8:56.36:213,0,56
2 190682632 rs3791773 G C 190.82 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.568;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.036;QD=19.08;ReadPosRankSum=1.447;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PMS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392338 GT:AD:DP:GQ:PL 0/1:4,6:10:99:221,0,135
2 190788844 rs35940796 T TC 3973.30 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.967;DB;DP=94;FS=3.979;HRun=0;HaplotypeScore=216.8565;IndelType=I;MQ=38.2;MQ0=14;MQRankSum=-0.604;QD=33.39;ReadPosRankSum=1.329;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C2orf88;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478197 GT:AD:DP:GQ:PL 1/1:9,110:94:99:3973,252,0
2 190926859 rs11333758 GT G 232.69 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=3.162;DB;DP=21;FS=0.0;HRun=3;HaplotypeScore=51.1552;IndelType=D;MQ=58.89;MQ0=0;MQRankSum=-0.462;QD=11.08;ReadPosRankSum=-0.604;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MSTN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260950 GT:AD:DP:GQ:PL 0/1:12,9:21:99:272,0,456
2 191159232 rs188339 A G 673.85 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.09;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HIBCH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359678 GT:AD:DP:GQ:PL 1/1:0,21:21:54.17:707,54,0
2 191161622 rs1058180 T C 1278.13 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;QD=31.95;SNPEFF_AMINO_ACID_CHANGE=T100A;SNPEFF_CODON_CHANGE=Acg/Gcg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_191161539_191161679;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HIBCH;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000409934 GT:AD:DP:GQ:PL 1/1:0,40:40:99:1311,102,0
2 191161845 rs2582743 C T 93.02 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.01;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HIBCH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359678 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:125,9,0
2 191175639 rs75794403 GT G 138.33 PASS AC=2;AF=1.00;AN=2;DB;DP=5;FS=0.0;HRun=4;HaplotypeScore=12.2317;IndelType=D;MQ=60.0;MQ0=0;QD=27.67;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HIBCH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359678 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:180,15,0
2 191184475 rs291466 A G 414.06 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.2;MQ0=0;QD=31.85;SNPEFF_AMINO_ACID_CHANGE=M1T;SNPEFF_CODON_CHANGE=aTg/aCg;SNPEFF_EFFECT=START_LOST;SNPEFF_EXON_ID=exon_2_191184442_191184771;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HIBCH;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000359678 GT:AD:DP:GQ:PL 1/1:0,12:13:36.11:447,36,0
2 191184524 rs3749022 C T 300.10 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.87;MQ0=0;QD=27.28;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_2_191184442_191184771;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HIBCH;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000359678 GT:AD:DP:GQ:PL 1/1:0,11:11:24.08:333,24,0
2 191301368 rs9646748 A G 611.88 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.445;DB;DP=54;Dels=0.0;FS=2.681;HRun=2;HaplotypeScore=1.3123;MQ=59.57;MQ0=0;MQRankSum=-0.296;QD=11.33;ReadPosRankSum=0.727;SNPEFF_AMINO_ACID_CHANGE=R205G;SNPEFF_CODON_CHANGE=Agg/Ggg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_191300621_191302287;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MFSD6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000281416 GT:AD:DP:GQ:PL 0/1:30,24:54:99:642,0,1019
2 191334459 . A ATTTTTAT 1396.38 PASS AC=2;AF=1.00;AN=2;DP=19;FS=0.0;HRun=0;HaplotypeScore=120.7151;IndelType=I;MQ=39.43;MQ0=0;QD=73.49;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MFSD6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281416 GT:AD:DP:GQ:PL 1/1:3,10:19:48.15:1438,48,0
2 191354491 rs3811609 T C 106.90 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=1.754;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.62;MQ0=0;MQRankSum=0.55;QD=15.27;ReadPosRankSum=0.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MFSD6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281416 GT:AD:DP:GQ:PL 0/1:3,4:7:94.52:137,0,95
2 191354658 rs59123011 C CCT 240.76 PASS AC=2;AF=1.00;AN=2;DB;DP=5;FS=0.0;HRun=0;HaplotypeScore=10.6861;IndelType=I;MQ=62.13;MQ0=0;QD=48.15;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MFSD6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281416 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:283,15,0
2 191373775 rs6707244 C T 963.44 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.22;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM194B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000414176 GT:AD:DP:GQ:PL 1/1:0,29:29:81.25:996,81,0
2 191375375 rs6712426 G A 97.76 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.181;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.825;QD=8.89;ReadPosRankSum=-0.466;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM194B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000444545 GT:AD:DP:GQ:PL 0/1:6,5:11:99:128,0,226
2 191379268 rs4586658 G A 491.64 PASS AB=0.585;AC=1;AF=0.50;AN=2;BaseQRankSum=1.094;DB;DP=42;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.8665;MQ=58.89;MQ0=0;MQRankSum=0.492;QD=11.71;ReadPosRankSum=-0.328;SNPEFF_AMINO_ACID_CHANGE=A288;SNPEFF_CODON_CHANGE=gcC/gcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_191379179_191379404;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM194B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000409150 GT:AD:DP:GQ:PL 0/1:24,17:42:99:522,0,725
2 191383348 rs12053190 A G 170.56 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.589;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.95;MQ0=0;MQRankSum=-1.589;QD=21.32;ReadPosRankSum=1.067;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM194B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421038 GT:AD:DP:GQ:PL 0/1:2,6:8:61.58:201,0,62
2 191390126 rs10931458 G A 1258.07 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.954;DB;DP=100;Dels=0.0;FS=3.775;HRun=0;HaplotypeScore=0.9993;MQ=60.0;MQ0=0;MQRankSum=-1.155;QD=12.58;ReadPosRankSum=-0.355;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM194B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409150 GT:AD:DP:GQ:PL 0/1:50,50:100:99:1288,0,1621
2 191535311 rs2109957 T C 407.74 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=1.804;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9665;MQ=58.45;MQ0=0;MQRankSum=-1.083;QD=27.18;ReadPosRankSum=1.083;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NAB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000337386 GT:AD:DP:GQ:PL 0/1:3,12:15:71.35:438,0,71
2 191537793 rs5837195 GT G 120.73 PASS AB=0.727;AC=1;AF=0.50;AN=2;BaseQRankSum=0.05;DB;DP=40;FS=0.0;HRun=15;HaplotypeScore=209.6618;IndelType=D;MQ=57.94;MQ0=0;MQRankSum=-1.45;QD=3.02;ReadPosRankSum=1.45;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NAB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000337386 GT:AD:DP:GQ:PL 0/1:22,13:40:99:160,0,375
2 191765206 rs3771313 T C 444.39 PASS AB=0.391;AC=1;AF=0.50;AN=2;BaseQRankSum=2.425;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=-0.22;QD=19.32;ReadPosRankSum=1.417;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GLS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479552 GT:AD:DP:GQ:PL 0/1:9,14:23:99:474,0,285
2 191818065 rs6434430 T C 55.29 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.43;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GLS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000320717 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:87,6,0
2 191818243 rs72239530 ATG A 888.88 PASS AB=0.694;AC=1;AF=0.50;AN=2;BaseQRankSum=4.276;DB;DP=59;FS=0.0;HRun=0;HaplotypeScore=194.7003;IndelType=D;MQ=60.73;MQ0=0;MQRankSum=2.119;QD=15.07;ReadPosRankSum=0.696;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GLS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000320717 GT:AD:DP:GQ:PL 0/1:33,26:59:99:928,0,1526
2 191839464 rs2066793 G A 261.31 PASS AB=0.385;AC=1;AF=0.50;AN=2;BaseQRankSum=2.68;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=-1.092;QD=20.1;ReadPosRankSum=0.817;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=STAT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392322 GT:AD:DP:GQ:PL 0/1:5,8:13:99:291,0,107
2 191841759 rs2066804 G A 230.74 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=0.561;DB;DP=27;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=-0.122;QD=8.55;ReadPosRankSum=-1.293;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=STAT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464072 GT:AD:DP:GQ:PL 0/1:15,12:27:99:261,0,513
2 191843830 rs2280235 A G 32.75 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=8.19;ReadPosRankSum=-1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=STAT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361099 GT:AD:DP:GQ:PL 0/1:2,2:4:54.83:63,0,55
2 191848312 rs12477076 T C 1783.05 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.15;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=STAT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361099 GT:AD:DP:GQ:PL 1/1:0,48:48:99:1816,132,0
2 191873553 rs10199181 A T 73.59 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.231;QD=14.72;ReadPosRankSum=0.358;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=STAT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000432058 GT:AD:DP:GQ:PL 0/1:2,3:5:69.83:104,0,70
2 191896045 rs1517351 T G 197.57 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.788;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.05;MQ0=0;MQRankSum=0.244;QD=16.46;ReadPosRankSum=-0.38;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STAT4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470708 GT:AD:DP:GQ:PL 0/1:5,7:12:99:228,0,173
2 191897540 rs925847 C T 70.58 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.406;DB;DP=6;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=11.76;ReadPosRankSum=1.537;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STAT4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470708 GT:AD:DP:GQ:PL 0/1:3,3:6:99:101,0,107
2 191898886 rs2459609 T C 44.35 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=14.78;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STAT4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470708 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:76,6,0
2 191922841 rs3024866 G A 852.19 PASS AB=0.326;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.916;DB;DP=43;Dels=0.0;FS=1.335;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.231;QD=19.82;ReadPosRankSum=-0.168;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STAT4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358470 GT:AD:DP:GQ:PL 0/1:14,29:43:99:882,0,477
2 191923026 rs1818625 T C 183.12 PASS AB=0.222;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.067;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.39;MQ0=0;MQRankSum=-1.666;QD=20.35;ReadPosRankSum=0.067;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STAT4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358470 GT:AD:DP:GQ:PL 0/1:2,7:9:59.39:213,0,59
2 191923064 rs1850442 T C 51.22 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STAT4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358470 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:82,6,0
2 191938124 rs3024840 T A 132.38 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.06;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STAT4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000413064 GT:AD:DP:GQ:PL 1/1:0,6:6:12.04:165,12,0
2 191996518 rs1551443 T C 632.02 PASS AB=0.31;AC=1;AF=0.50;AN=2;BaseQRankSum=0.825;DB;DP=29;Dels=0.0;FS=2.741;HRun=1;HaplotypeScore=0.0;MQ=59.2;MQ0=0;MQRankSum=-0.071;QD=21.79;ReadPosRankSum=0.118;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STAT4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358470 GT:AD:DP:GQ:PL 0/1:9,20:29:99:662,0,294
2 192161058 rs11397643 G GT 581.29 PASS AC=2;AF=1.00;AN=2;DB;DP=25;FS=0.0;HRun=8;HaplotypeScore=57.2822;IndelType=I;MQ=60.0;MQ0=0;QD=23.25;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYO1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420448 GT:AD:DP:GQ:PL 1/1:8,17:25:54.16:623,54,0
2 192214833 rs67146186 A T 544.66 PASS AB=0.529;AC=1;AF=0.50;AN=2;BaseQRankSum=1.466;DB;DP=34;Dels=0.0;FS=9.779;HRun=0;HaplotypeScore=0.0;MQ=59.32;MQ0=0;MQRankSum=-0.431;QD=16.02;ReadPosRankSum=1.949;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYO1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418908 GT:AD:DP:GQ:PL 0/1:18,16:34:99:575,0,565
2 192214966 rs59642822 T C 592.43 PASS AB=0.436;AC=1;AF=0.50;AN=2;BaseQRankSum=0.326;DB;DP=39;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.439;QD=15.19;ReadPosRankSum=-0.269;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYO1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418908 GT:AD:DP:GQ:PL 0/1:17,22:39:99:622,0,483
2 192225294 rs2138913 A G 905.32 PASS AB=0.534;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.843;DB;DP=73;Dels=0.0;FS=1.578;HRun=0;HaplotypeScore=0.734;MQ=59.05;MQ0=0;MQRankSum=-0.636;QD=12.4;ReadPosRankSum=-0.879;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYO1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304164 GT:AD:DP:GQ:PL 0/1:39,34:73:99:935,0,1357
2 192225477 rs71403288 G GTGTTGTTGT 1300.86 PASS AB=0.843;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.305;DB;DP=75;FS=0.0;HRun=0;HaplotypeScore=550.9215;IndelType=I;MQ=56.52;MQ0=0;MQRankSum=-0.021;QD=17.34;ReadPosRankSum=-0.935;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYO1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304164 GT:AD:DP:GQ:PL 0/1:60,9:75:99:1340,0,1179
2 192226908 rs2271769 G C 213.83 PASS AB=0.385;AC=1;AF=0.50;AN=2;BaseQRankSum=2.927;DB;DP=13;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.092;QD=16.45;ReadPosRankSum=-1.855;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYO1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304164 GT:AD:DP:GQ:PL 0/1:5,8:13:99:244,0,149
2 192247808 rs34460997 A G 52.28 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYO1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304164 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
2 192247836 rs4641883 C T 112.93 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.23;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYO1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304164 GT:AD:DP:GQ:PL 1/1:0,4:4:12.03:145,12,0
2 192250342 rs34785192 A T 44.42 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=47.12;MQ0=0;QD=22.21;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYO1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000496992 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:76,6,0
2 192250543 rs13000398 A G 2426.87 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.2064;MQ=59.66;MQ0=0;QD=35.69;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYO1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000496992 GT:AD:DP:GQ:PL 1/1:0,68:68:99:2460,187,0
2 192250568 rs13026888 T C 3963.30 PASS AC=2;AF=1.00;AN=2;DB;DP=110;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=59.79;MQ0=0;QD=36.03;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYO1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000496992 GT:AD:DP:GQ:PL 1/1:0,108:110:99:3963,292,0
2 192250726 rs13018796 G A 8440.73 PASS AC=2;AF=1.00;AN=2;DB;DP=248;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=3.0739;MQ=59.46;MQ0=0;QD=34.04;SNPEFF_AMINO_ACID_CHANGE=E490;SNPEFF_CODON_CHANGE=gaG/gaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_192250610_192250810;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYO1B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000304164 GT:AD:DP:GQ:PL 1/1:0,247:248:99:8441,623,0
2 192273583 rs2203749 A G 92.19 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.73;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYO1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304164 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:124,9,0
2 192279327 rs2271767 T C 1783.65 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.65;SNPEFF_AMINO_ACID_CHANGE=L1002;SNPEFF_CODON_CHANGE=Ttg/Ctg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_192279243_192279395;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYO1B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000392316 GT:AD:DP:GQ:PL 1/1:0,53:53:99:1817,132,0
2 192283457 rs4435396 C T 574.73 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYO1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304164 GT:AD:DP:GQ:PL 1/1:0,15:15:45.15:608,45,0
2 192548841 . TA T 48.55 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.6;DP=12;FS=0.0;HRun=15;HaplotypeScore=79.242;IndelType=D;MQ=58.05;MQ0=0;MQRankSum=0.0;QD=4.05;ReadPosRankSum=0.536;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=OBFC2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462712 GT:AD:DP:GQ:PL 0/1:5,5:12:60.77:88,0,61
2 192701393 rs10167187 A G 1325.34 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=60.0;MQ0=0;QD=34.88;SNPEFF_AMINO_ACID_CHANGE=G178;SNPEFF_CODON_CHANGE=ggT/ggC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_192699028_192701443;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SDPR;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000304141 GT:AD:DP:GQ:PL 1/1:0,38:38:99:1358,99,0
2 192711162 rs4471838 A C 255.83 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.98;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SDPR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304141 GT:AD:DP:GQ:PL 1/1:0,8:8:21.07:289,21,0
2 192815312 rs10194593 G C 172.95 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.683;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.39;MQ0=0;MQRankSum=-1.422;QD=19.22;ReadPosRankSum=-1.683;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEFF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272771 GT:AD:DP:GQ:PL 0/1:3,6:9:99:203,0,101
2 192815323 rs10170778 A G 143.12 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.322;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.05;MQ0=0;MQRankSum=-1.221;QD=17.89;ReadPosRankSum=-1.92;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEFF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272771 GT:AD:DP:GQ:PL 0/1:3,5:8:99:173,0,101
2 192820898 rs7606017 T G 114.87 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.866;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.21;MQ0=0;MQRankSum=-1.036;QD=11.49;ReadPosRankSum=1.133;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEFF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272771 GT:AD:DP:GQ:PL 0/1:4,6:10:99:145,0,140
2 192922256 rs3738883 T G 116.50 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.95;MQ0=0;QD=29.13;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEFF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272771 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:149,12,0
2 193048895 rs3738882 C G 600.36 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.52;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEFF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272771 GT:AD:DP:GQ:PL 1/1:0,16:16:48.15:633,48,0
2 193048968 . G T 165.33 PASS AB=0.396;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.983;DP=48;Dels=0.0;FS=25.092;HRun=2;HaplotypeScore=4.2298;MQ=49.5;MQ0=0;MQRankSum=-3.54;QD=3.44;ReadPosRankSum=3.088;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEFF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272771 GT:AD:DP:GQ:PL 0/1:19,29:48:99:195,0,452
2 194855680 rs7591690 C T 3537.42 PASS AC=2;AF=1.00;AN=2;DB;DP=103;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=2.7499;MQ=60.0;MQ0=0;QD=34.34;SNPEFF_EFFECT=INTERGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 1/1:0,103:103:99:3537,268,0
2 194856006 rs2884356 C T 895.27 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.3;SNPEFF_EFFECT=INTERGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 1/1:0,24:24:69.23:928,69,0
2 195052314 rs9808251 T C 1404 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.84;MQ0=0;QD=35.1;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=AC068129.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000453073 GT:AD:DP:GQ:PL 1/1:0,40:40:99:1437,105,0
2 195052367 rs9808060 C A 1840.45 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.05;MQ0=0;QD=37.56;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=AC068129.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000453073 GT:AD:DP:GQ:PL 1/1:0,49:49:99:1873,144,0
2 196544630 rs35514309 A C 110.10 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.368;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.421;QD=13.76;ReadPosRankSum=-0.421;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC39A10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359634 GT:AD:DP:GQ:PL 0/1:4,4:8:99:140,0,141
2 196581295 rs3841858 T TGTCTAG 949.91 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.065;DB;DP=20;FS=3.522;HRun=0;HaplotypeScore=88.9152;IndelType=I;MQ=49.57;MQ0=0;MQRankSum=-2.888;QD=47.5;ReadPosRankSum=-0.4;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC39A10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359634 GT:AD:DP:GQ:PL 0/1:10,8:20:99:989,0,523
2 196582816 rs842736 T C 87.29 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.1;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC39A10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465851 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:119,9,0
2 196602582 rs75708451 A AAAT 522.53 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.933;DB;DP=14;FS=0.0;HRun=0;HaplotypeScore=70.6638;IndelType=I;MQ=49.17;MQ0=0;MQRankSum=-2.133;QD=37.32;ReadPosRankSum=0.4;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000438565 GT:AD:DP:GQ:PL 0/1:6,8:14:99:562,0,182
2 196602614 . G GAAAT 303.31 PASS AB=0.8;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.253;DP=20;FS=5.563;HRun=0;HaplotypeScore=117.7735;IndelType=I;MQ=52.65;MQ0=0;MQRankSum=1.479;QD=15.17;ReadPosRankSum=0.197;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000438565 GT:AD:DP:GQ:PL 0/1:15,5:20:99:342,0,641
2 196619340 rs1866451 T G 275.51 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.44;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000312428 GT:AD:DP:GQ:PL 1/1:0,8:8:24.07:308,24,0
2 196636662 rs1145939 C G 836.87 PASS AB=0.481;AC=1;AF=0.50;AN=2;BaseQRankSum=1.982;DB;DP=54;Dels=0.0;FS=2.144;HRun=0;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=0.563;QD=15.5;ReadPosRankSum=-0.182;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000312428 GT:AD:DP:GQ:PL 0/1:26,28:54:99:867,0,863
2 196663997 rs7567285 T C 1188.69 PASS AB=0.465;AC=1;AF=0.50;AN=2;BaseQRankSum=0.859;DB;DP=71;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=0.144;QD=16.74;ReadPosRankSum=0.098;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000312428 GT:AD:DP:GQ:PL 0/1:33,38:71:99:1219,0,1042
2 196673533 rs13411834 A G 1478.39 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9989;MQ=59.53;MQ0=0;QD=30.17;SNPEFF_AMINO_ACID_CHANGE=L3319P;SNPEFF_CODON_CHANGE=cTt/cCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_196673406_196673600;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH7;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000312428 GT:AD:DP:GQ:PL 1/1:0,49:49:99:1511,126,0
2 196681284 rs2280452 A T 314.14 PASS AB=0.412;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.708;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.9;MQ0=0;MQRankSum=-0.244;QD=18.48;ReadPosRankSum=-1.122;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000493844 GT:AD:DP:GQ:PL 0/1:7,10:17:99:344,0,241
2 196682630 rs975417 C A 156.72 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.093;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.312;QD=12.06;ReadPosRankSum=0.101;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000312428 GT:AD:DP:GQ:PL 0/1:6,7:13:99:187,0,197
2 196722541 rs10497771 C G 108.07 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=0.55;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.28;MQ0=0;MQRankSum=0.0;QD=15.44;ReadPosRankSum=-0.937;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000312428 GT:AD:DP:GQ:PL 0/1:3,4:7:99:138,0,104
2 196756535 rs35147831 GA G 327.42 PASS AC=2;AF=1.00;AN=2;DB;DP=22;FS=0.0;HRun=11;HaplotypeScore=84.6798;IndelType=D;MQ=58.95;MQ0=0;QD=14.88;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475293 GT:AD:DP:GQ:PL 1/1:6,16:22:44.92:369,45,0
2 196791276 rs1489802 T G 495.22 PASS AB=0.654;AC=1;AF=0.50;AN=2;BaseQRankSum=0.069;DB;DP=52;Dels=0.0;FS=11.371;HRun=1;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=1.626;QD=9.52;ReadPosRankSum=2.296;SNPEFF_AMINO_ACID_CHANGE=A1162;SNPEFF_CODON_CHANGE=gcA/gcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_196791150_196791290;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH7;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000312428 GT:AD:DP:GQ:PL 0/1:34,18:52:99:525,0,998
2 196849453 rs17363011 C T 706.74 PASS AB=0.447;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.407;DB;DP=38;Dels=0.0;FS=5.132;HRun=0;HaplotypeScore=0.0;MQ=59.39;MQ0=0;MQRankSum=-0.117;QD=18.6;ReadPosRankSum=0.264;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000312428 GT:AD:DP:GQ:PL 0/1:17,21:38:99:737,0,554
2 196849517 rs17363053 T C 225.34 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.838;DB;DP=16;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.8941;MQ=58.55;MQ0=0;MQRankSum=0.263;QD=14.08;ReadPosRankSum=0.473;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000312428 GT:AD:DP:GQ:PL 0/1:8,8:16:99:255,0,267
2 196851911 rs10931715 G A 475.29 PASS AB=0.559;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.832;DB;DP=34;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.63;MQ0=0;MQRankSum=1.63;QD=13.98;ReadPosRankSum=0.52;SNPEFF_AMINO_ACID_CHANGE=R545C;SNPEFF_CODON_CHANGE=Cgt/Tgt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_196851790_196851917;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH7;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000312428 GT:AD:DP:GQ:PL 0/1:19,15:34:99:505,0,636
2 196866420 rs6434811 C T 2675.76 PASS AC=2;AF=1.00;AN=2;DB;DP=76;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=59.7;MQ0=0;QD=35.21;SNPEFF_AMINO_ACID_CHANGE=T384;SNPEFF_CODON_CHANGE=acG/acA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_196866399_196866582;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH7;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000312428 GT:AD:DP:GQ:PL 1/1:0,76:76:99:2709,196,0
2 196891449 rs1072600 T C 498.90 PASS AB=0.357;AC=1;AF=0.50;AN=2;BaseQRankSum=1.798;DB;DP=28;Dels=0.0;FS=5.764;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.846;QD=17.82;ReadPosRankSum=1.271;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427816 GT:AD:DP:GQ:PL 0/1:10,18:28:99:529,0,331
2 196912067 rs4850381 A G 816.06 PASS AB=0.547;AC=1;AF=0.50;AN=2;BaseQRankSum=3.257;DB;DP=64;Dels=0.0;FS=2.886;HRun=0;HaplotypeScore=1.5592;MQ=59.28;MQ0=0;MQRankSum=-0.505;QD=12.75;ReadPosRankSum=0.048;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000312428 GT:AD:DP:GQ:PL 0/1:35,29:64:99:846,0,1139
2 196915991 rs10174065 A G 1163.40 PASS AB=0.434;AC=1;AF=0.50;AN=2;BaseQRankSum=0.602;DB;DP=83;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.9578;MQ=60.0;MQ0=0;MQRankSum=0.482;QD=14.02;ReadPosRankSum=0.813;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000312428 GT:AD:DP:GQ:PL 0/1:36,47:83:99:1193,0,1282
2 197004185 rs11888166 G A 81.44 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=20.36;ReadPosRankSum=-0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STK17B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263955 GT:AD:DP:GQ:PL 0/1:1,3:4:24.94:111,0,25
2 197004439 rs1054537 A G 1505.69 PASS AB=0.486;AC=1;AF=0.50;AN=2;BaseQRankSum=0.944;DB;DP=111;Dels=0.0;FS=1.554;HRun=0;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=0.415;QD=13.56;ReadPosRankSum=-0.427;SNPEFF_AMINO_ACID_CHANGE=I247;SNPEFF_CODON_CHANGE=atT/atC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_197004344_197004523;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STK17B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000263955 GT:AD:DP:GQ:PL 0/1:54,57:111:99:1536,0,1652
2 197008529 rs1568368 C T 105.48 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.754;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.6803;MQ=56.62;MQ0=0;MQRankSum=0.937;QD=15.07;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STK17B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263955 GT:AD:DP:GQ:PL 0/1:3,4:7:99:135,0,105
2 197010527 rs2271887 A C 39.28 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.422;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.39;MQ0=0;MQRankSum=0.248;QD=4.36;ReadPosRankSum=-0.573;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STK17B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263955 GT:AD:DP:GQ:PL 0/1:6,3:9:69.27:69,0,229
2 197010823 rs2271888 C T 96.28 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=0.876;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=0.361;QD=10.7;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STK17B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263955 GT:AD:DP:GQ:PL 0/1:5,4:9:99:126,0,174
2 197021086 rs6712631 C T 160.05 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.568;DB;DP=10;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.036;QD=16.01;ReadPosRankSum=1.568;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STK17B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420683 GT:AD:DP:GQ:PL 0/1:4,6:10:99:190,0,132
2 197021141 rs6712829 G A 324.26 PASS AB=0.474;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.266;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.612;QD=17.07;ReadPosRankSum=-0.531;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STK17B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420683 GT:AD:DP:GQ:PL 0/1:9,10:19:99:354,0,317
2 197021276 rs10931726 T C 1011.02 PASS AB=0.485;AC=1;AF=0.50;AN=2;BaseQRankSum=1.199;DB;DP=68;Dels=0.0;FS=2.101;HRun=1;HaplotypeScore=0.0;MQ=59.39;MQ0=0;MQRankSum=-0.069;QD=14.87;ReadPosRankSum=0.483;SNPEFF_AMINO_ACID_CHANGE=R74;SNPEFF_CODON_CHANGE=cgA/cgG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_197021163_197021375;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STK17B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000263955 GT:AD:DP:GQ:PL 0/1:33,35:68:99:1041,0,1128
2 197021372 rs12478353 T A 946.59 PASS AB=0.494;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.911;DB;DP=77;Dels=0.0;FS=2.24;HRun=0;HaplotypeScore=4.2046;MQ=59.7;MQ0=0;MQRankSum=1.241;QD=12.14;ReadPosRankSum=-1.221;SNPEFF_AMINO_ACID_CHANGE=G42;SNPEFF_CODON_CHANGE=ggA/ggT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_197021163_197021375;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STK17B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000263955 GT:AD:DP:GQ:PL 0/1:38,39:77:99:977,0,1147
2 197027792 rs1519602 T G 111.06 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.731;QD=22.21;ReadPosRankSum=-0.731;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STK17B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000449152 GT:AD:DP:GQ:PL 0/1:1,4:5:26.71:141,0,27
2 197065889 rs3795921 A G 210.08 PASS AB=0.529;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.588;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.203;QD=12.36;ReadPosRankSum=1.203;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HECW2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260983 GT:AD:DP:GQ:PL 0/1:9,8:17:99:240,0,290
2 197065964 rs3820908 C A 441.25 PASS AB=0.543;AC=1;AF=0.50;AN=2;BaseQRankSum=0.712;DB;DP=35;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=0.182;QD=12.61;ReadPosRankSum=0.381;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HECW2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260983 GT:AD:DP:GQ:PL 0/1:19,16:35:99:471,0,563
2 197066175 rs4566380 T G 58.54 PASS AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=0.133;DB;DP=19;Dels=0.05;FS=0.0;HRun=2;HaplotypeScore=1.933;MQ=60.0;MQ0=0;MQRankSum=0.489;QD=2.93;ReadPosRankSum=-0.933;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HECW2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260983 GT:AD:DP:GQ:PL 0/1:10,9:19:88.54:89,0,352
2 197084587 rs1531113 T C 174.25 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.85;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HECW2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260983 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:207,15,0
2 197084595 rs1531114 T C 255.62 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.52;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HECW2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260983 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:289,21,0
2 197085179 rs3816516 C T 36.08 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.04;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HECW2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260983 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:67,6,0
2 197104929 rs10176696 G A 34.45 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.23;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HECW2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000498146 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:66,6,0
2 197106759 rs2045277 T C 2576.33 PASS AC=2;AF=1.00;AN=2;DB;DP=82;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=1.5678;MQ=60.0;MQ0=0;QD=31.42;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HECW2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260983 GT:AD:DP:GQ:PL 1/1:0,82:82:99:2609,202,0
2 197107082 rs2290511 A G 87.09 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.03;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HECW2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260983 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:119,9,0
2 197118729 rs4850690 C T 1569.27 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.03;MQ0=0;QD=36.49;SNPEFF_AMINO_ACID_CHANGE=S1148;SNPEFF_CODON_CHANGE=tcG/tcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_197118644_197118753;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HECW2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000260983 GT:AD:DP:GQ:PL 1/1:0,43:43:99:1602,120,0
2 197122493 rs6731238 T G 1542.64 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.734;MQ=60.0;MQ0=0;QD=37.63;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HECW2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260983 GT:AD:DP:GQ:PL 1/1:0,41:41:99:1576,117,0
2 197135806 rs4850693 T C 149.36 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.21;MQ0=0;QD=29.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HECW2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260983 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:182,15,0
2 197143029 rs4850391 G T 38.32 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=47.12;MQ0=0;QD=19.16;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HECW2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260983 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:70,6,0
2 197171104 rs6729640 G A 369.95 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HECW2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260983 GT:AD:DP:GQ:PL 1/1:0,10:10:30.10:403,30,0
2 197171175 rs4241189 C T 1066.51 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.9623;MQ=59.28;MQ0=0;QD=33.33;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HECW2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260983 GT:AD:DP:GQ:PL 1/1:0,32:32:84.25:1100,84,0
2 197171183 rs12468199 C T 1095.85 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.38;MQ0=0;QD=29.62;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HECW2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260983 GT:AD:DP:GQ:PL 1/1:0,37:37:90.26:1129,90,0
2 197172816 rs2305567 G A 396.05 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.448;DB;DP=12;Dels=0.0;FS=10.792;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.738;QD=33.0;ReadPosRankSum=-1.159;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HECW2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260983 GT:AD:DP:GQ:PL 1/1:1,11:12:6.49:427,6,0
2 197184321 rs1531111 C T 1192.21 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.52;MQ0=0;QD=30.57;SNPEFF_AMINO_ACID_CHANGE=P431;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_197183276_197184628;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HECW2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000260983 GT:AD:DP:GQ:PL 1/1:0,39:39:93.30:1225,93,0
2 197298222 rs2204641 T C 475 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.93;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HECW2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260983 GT:AD:DP:GQ:PL 1/1:0,14:14:39.12:508,39,0
2 197298232 rs2204640 C T 359.74 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.97;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HECW2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260983 GT:AD:DP:GQ:PL 1/1:0,10:10:30.10:393,30,0
2 197504545 rs1879128 C G 67.13 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=1.422;DB;DP=10;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=57.66;MQ0=0;MQRankSum=0.573;QD=6.71;ReadPosRankSum=0.573;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CCDC150;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272831 GT:AD:DP:GQ:PL 0/1:7,3:10:97.12:97,0,167
2 197521252 rs1519678 C T 430.45 PASS AB=0.595;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.976;DB;DP=42;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.56;MQ0=0;MQRankSum=1.082;QD=10.25;ReadPosRankSum=0.575;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CCDC150;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272831 GT:AD:DP:GQ:PL 0/1:25,17:42:99:460,0,879
2 197531737 rs2376098 C G 281.51 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=0.915;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9979;MQ=59.07;MQ0=0;MQRankSum=1.137;QD=11.26;ReadPosRankSum=0.25;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CCDC150;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272831 GT:AD:DP:GQ:PL 0/1:15,10:25:99:312,0,527
2 197531808 rs4850721 C G 32.85 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9958;MQ=60.0;MQ0=0;MQRankSum=-1.231;QD=6.57;ReadPosRankSum=0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CCDC150;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272831 GT:AD:DP:GQ:PL 0/1:3,2:5:62.84:63,0,109
2 197534692 rs7590083 C T 950.27 PASS AB=0.442;AC=1;AF=0.50;AN=2;BaseQRankSum=3.924;DB;DP=52;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.56;MQ0=0;MQRankSum=1.861;QD=18.27;ReadPosRankSum=1.437;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CCDC150;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471546 GT:AD:DP:GQ:PL 0/1:23,29:52:99:980,0,723
2 197566068 rs6725610 G A 36.92 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.231;QD=7.38;ReadPosRankSum=1.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CCDC150;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272831 GT:AD:DP:GQ:PL 0/1:3,2:5:66.91:67,0,98
2 197584504 rs2680970 C T 343.35 PASS AB=0.389;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.083;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.71;MQ0=0;MQRankSum=-0.272;QD=19.07;ReadPosRankSum=0.634;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CCDC150;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461825 GT:AD:DP:GQ:PL 0/1:7,11:18:99:373,0,201
2 197593787 rs2460436 C T 299.83 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.473;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.53;QD=19.99;ReadPosRankSum=1.827;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CCDC150;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463826 GT:AD:DP:GQ:PL 0/1:6,9:15:99:330,0,199
2 197594203 rs2577580 G C 762.63 PASS AB=0.51;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.494;DB;DP=51;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8321;MQ=59.63;MQ0=0;MQRankSum=1.804;QD=14.95;ReadPosRankSum=-0.058;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CCDC150;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463826 GT:AD:DP:GQ:PL 0/1:26,25:51:99:793,0,846
2 197595762 rs2680967 G A 279.05 PASS AB=0.474;AC=1;AF=0.50;AN=2;BaseQRankSum=0.612;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.78;MQ0=0;MQRankSum=-0.939;QD=14.69;ReadPosRankSum=2.572;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CCDC150;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463826 GT:AD:DP:GQ:PL 0/1:9,10:19:99:309,0,318
2 197629531 rs113641244 TA T 86.77 PASS AB=0.684;AC=1;AF=0.50;AN=2;BaseQRankSum=2.074;DB;DP=13;FS=0.0;HRun=9;HaplotypeScore=32.3655;IndelType=D;MQ=60.0;MQ0=0;MQRankSum=1.093;QD=6.67;ReadPosRankSum=-0.312;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CCDC150;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461243 GT:AD:DP:GQ:PL 0/1:7,6:13:99:126,0,186
2 197636379 rs62185599 A G 74.19 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=14.84;ReadPosRankSum=-1.231;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GTF3C3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000435252 GT:AD:DP:GQ:PL 0/1:2,3:5:67.36:104,0,67
2 197664521 rs6434886 A T 37.66 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.83;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GTF3C3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263956 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:69,6,0
2 197672487 rs11378936 G GT 251.94 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.747;DB;DP=8;FS=0.0;HRun=1;HaplotypeScore=24.9284;IndelType=I;MQ=60.0;MQ0=0;MQRankSum=0.747;QD=31.49;ReadPosRankSum=0.747;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf66;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342506 GT:AD:DP:GQ:PL 0/1:1,7:8:14.86:291,0,15
2 197737587 rs3795915 T G 90.84 PASS AB=0.733;AC=1;AF=0.50;AN=2;BaseQRankSum=2.807;DB;DP=15;Dels=0.0;FS=5.74;HRun=1;HaplotypeScore=0.0;MQ=58.45;MQ0=0;MQRankSum=0.718;QD=6.06;ReadPosRankSum=1.11;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PGAP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000482051 GT:AD:DP:GQ:PL 0/1:11,4:15:99:121,0,404
2 197750042 rs365342 G A 676.17 PASS AB=0.31;AC=1;AF=0.50;AN=2;BaseQRankSum=0.778;DB;DP=30;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=-0.354;QD=22.54;ReadPosRankSum=-0.118;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PGAP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374738 GT:AD:DP:GQ:PL 0/1:9,20:30:99:706,0,284
2 197757042 . A C 328.04 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=2.079;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.22;MQ0=0;MQRankSum=-0.088;QD=13.67;ReadPosRankSum=1.435;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PGAP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354764 GT:AD:DP:GQ:PL 0/1:10,14:24:99:358,0,350
2 197761824 rs332300 T C 292.27 PASS AB=0.412;AC=1;AF=0.50;AN=2;BaseQRankSum=0.927;DB;DP=17;Dels=0.0;FS=2.197;HRun=0;HaplotypeScore=0.0;MQ=58.9;MQ0=0;MQRankSum=-0.537;QD=17.19;ReadPosRankSum=0.927;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PGAP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354764 GT:AD:DP:GQ:PL 0/1:7,10:17:99:322,0,228
2 197777589 rs12693800 C T 335.20 PASS AB=0.519;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.694;DB;DP=27;Dels=0.0;FS=6.648;HRun=2;HaplotypeScore=0.0;MQ=58.27;MQ0=0;MQRankSum=1.672;QD=12.41;ReadPosRankSum=0.077;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PGAP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354764 GT:AD:DP:GQ:PL 0/1:14,13:27:99:365,0,457
2 197862903 rs2376209 T C 40.14 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD44;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282272 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:71,6,0
2 197863214 rs1966703 C T 124.28 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.141;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.244;QD=9.56;ReadPosRankSum=0.529;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD44;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282272 GT:AD:DP:GQ:PL 0/1:7,6:13:99:154,0,257
2 197863851 rs4850742 C T 451.47 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.73;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD44;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282272 GT:AD:DP:GQ:PL 1/1:0,13:13:36.12:484,36,0
2 197864996 rs6434897 A C 321.68 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.74;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD44;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282272 GT:AD:DP:GQ:PL 1/1:0,9:9:27.07:355,27,0
2 197866470 rs12478175 T A 2494.32 PASS AC=2;AF=1.00;AN=2;DB;DP=75;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD44;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282272 GT:AD:DP:GQ:PL 1/1:0,75:75:99:2527,184,0
2 197872727 rs113476694 T TTCTC 2022.64 PASS AC=2;AF=1.00;AN=2;DB;DP=26;FS=0.0;HRun=0;HaplotypeScore=81.2756;IndelType=I;MQ=47.4;MQ0=0;QD=77.79;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD44;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282272 GT:AD:DP:GQ:PL 1/1:4,22:26:78.27:2065,78,0
2 197873563 rs7565685 T C 586.14 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.63;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD44;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000422886 GT:AD:DP:GQ:PL 1/1:0,16:16:48.15:619,48,0
2 197878584 rs7584406 T A 233.47 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.35;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD44;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282272 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:266,21,0
2 197943489 rs61752172 T G 672.63 PASS AB=0.542;AC=1;AF=0.50;AN=2;BaseQRankSum=1.851;DB;DP=59;Dels=0.0;FS=5.593;HRun=1;HaplotypeScore=0.6651;MQ=59.22;MQ0=0;MQRankSum=-0.184;QD=11.4;ReadPosRankSum=-0.601;SNPEFF_AMINO_ACID_CHANGE=K205Q;SNPEFF_CODON_CHANGE=Aag/Cag;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_197943427_197943538;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD44;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000422886 GT:AD:DP:GQ:PL 0/1:32,27:59:99:703,0,909
2 197947823 rs930372 A C 73.96 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.65;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD44;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282272 GT:AD:DP:GQ:PL 1/1:0,3:3:9.02:106,9,0
2 197953372 rs67067011 TAAGTC T 4162.37 PASS AC=2;AF=1.00;AN=2;DB;DP=72;FS=0.0;HRun=0;HaplotypeScore=432.3195;IndelType=D;MQ=57.39;MQ0=1;QD=57.02;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD44;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473081 GT:AD:DP:GQ:PL 1/1:5,68:72:99:4162,208,0
2 197954780 rs4300850 A G 996.07 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.2;MQ0=0;QD=34.35;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD44;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282272 GT:AD:DP:GQ:PL 1/1:0,29:29:75.25:1029,75,0
2 197964689 rs56077856 G A 2089.90 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.026;DB;DP=124;Dels=0.0;FS=1.754;HRun=1;HaplotypeScore=2.9984;MQ=59.33;MQ0=0;MQRankSum=0.889;QD=16.85;ReadPosRankSum=0.033;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD44;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282272 GT:AD:DP:GQ:PL 0/1:55,69:124:99:2120,0,1636
2 197986048 rs2697270 T C 752.61 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.95;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD44;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443014 GT:AD:DP:GQ:PL 1/1:0,26:26:57.17:786,57,0
2 197989945 rs2579395 T C 82.02 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.51;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD44;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443014 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:114,9,0
2 197990509 rs2579394 G A 786.27 PASS AB=0.425;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.739;DB;DP=40;Dels=0.0;FS=7.586;HRun=0;HaplotypeScore=0.6651;MQ=59.42;MQ0=0;MQRankSum=-1.176;QD=19.66;ReadPosRankSum=-0.821;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD44;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443014 GT:AD:DP:GQ:PL 0/1:17,23:40:99:816,0,495
2 197990527 rs6434907 G A 544.23 PASS AB=0.532;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.507;DB;DP=47;Dels=0.0;FS=4.028;HRun=1;HaplotypeScore=1.665;MQ=59.51;MQ0=0;MQRankSum=0.11;QD=11.58;ReadPosRankSum=0.75;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD44;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443014 GT:AD:DP:GQ:PL 0/1:25,22:47:99:574,0,833
2 197990909 rs2918628 G A 91.74 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD44;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282272 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:124,9,0
2 198001319 rs3731569 A G 443.15 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.826;DB;DP=34;Dels=0.0;FS=3.436;HRun=0;HaplotypeScore=1.4105;MQ=59.32;MQ0=0;MQRankSum=0.271;QD=13.03;ReadPosRankSum=-0.343;SNPEFF_AMINO_ACID_CHANGE=S14;SNPEFF_CODON_CHANGE=agT/agC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_198001316_198001386;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD44;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000539527 GT:AD:DP:GQ:PL 0/1:16,18:34:99:473,0,470
2 198001443 rs2579387 C T 211.18 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.654;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.027;QD=15.08;ReadPosRankSum=0.663;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD44;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282272 GT:AD:DP:GQ:PL 0/1:7,7:14:99:241,0,201
2 198001621 rs73051382 A G 55.29 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.43;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD44;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282272 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:87,6,0
2 198011904 rs2249470 G A 505.42 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD44;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282272 GT:AD:DP:GQ:PL 1/1:0,14:14:39.13:538,39,0
2 198011937 rs77715921 G A 108.27 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.922;DB;DP=8;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=57.05;MQ0=0;MQRankSum=0.421;QD=13.53;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD44;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282272 GT:AD:DP:GQ:PL 0/1:4,4:8:98.33:138,0,98
2 198012407 rs11688574 G T 122.21 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.825;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9967;MQ=60.0;MQ0=0;MQRankSum=-0.466;QD=11.11;ReadPosRankSum=0.143;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD44;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282272 GT:AD:DP:GQ:PL 0/1:6,5:11:99:152,0,218
2 198244598 rs7603828 G A 336.88 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.956;DB;DP=36;Dels=0.0;FS=1.399;HRun=1;HaplotypeScore=0.7887;MQ=59.19;MQ0=0;MQRankSum=0.573;QD=9.36;ReadPosRankSum=0.782;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=AC010746.4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000399556 GT:AD:DP:GQ:PL 0/1:24,12:36:99:367,0,811
2 198257652 rs34965354 T TA 678.74 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.706;DB;DP=31;FS=0.0;HRun=12;HaplotypeScore=207.248;IndelType=I;MQ=58.72;MQ0=0;MQRankSum=1.348;QD=21.89;ReadPosRankSum=-0.706;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SF3B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000335508 GT:AD:DP:GQ:PL 1/1:2,29:31:60.28:721,60,0
2 198257795 rs4685 T C 1797.77 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.7;MQ0=0;QD=35.25;SNPEFF_AMINO_ACID_CHANGE=V1219;SNPEFF_CODON_CHANGE=gtA/gtG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_198257696_198257912;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SF3B1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000335508 GT:AD:DP:GQ:PL 1/1:0,51:51:99:1831,138,0
2 198263146 rs16865262 T C 991.66 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.506;DB;DP=63;Dels=0.0;FS=3.829;HRun=0;HaplotypeScore=0.9665;MQ=59.7;MQ0=0;MQRankSum=0.248;QD=15.74;ReadPosRankSum=-0.191;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SF3B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462613 GT:AD:DP:GQ:PL 0/1:28,35:63:99:1022,0,812
2 198264903 rs80320260 AAAT A 1242.22 PASS AB=0.681;AC=1;AF=0.50;AN=2;BaseQRankSum=4.985;DB;DP=62;FS=1.033;HRun=0;HaplotypeScore=249.2684;IndelType=D;MQ=56.33;MQ0=0;MQRankSum=-1.427;QD=20.04;ReadPosRankSum=-1.312;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SF3B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462613 GT:AD:DP:GQ:PL 0/1:33,29:62:99:1281,0,1662
2 198265173 rs788017 T A 1354.82 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.0;FS=0.0;HRun=8;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.57;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SF3B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462613 GT:AD:DP:GQ:PL 1/1:1,50:51:99:1388,123,0
2 198265526 rs788018 A G 2441.20 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.44;SNPEFF_AMINO_ACID_CHANGE=G877;SNPEFF_CODON_CHANGE=ggT/ggC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_198265439_198265660;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SF3B1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000335508 GT:AD:DP:GQ:PL 1/1:0,67:67:99:2474,181,0
2 198266943 rs788019 C T 935.40 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.28;MQ0=0;QD=35.98;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SF3B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000335508 GT:AD:DP:GQ:PL 1/1:0,26:26:75.21:968,75,0
2 198267770 rs2914980 G GAA 942.18 PASS AC=2;AF=1.00;AN=2;DB;DP=20;FS=0.0;HRun=4;HaplotypeScore=44.2018;IndelType=I;MQ=61.07;MQ0=0;QD=47.11;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SF3B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468925 GT:AD:DP:GQ:PL 1/1:1,19:20:57.19:984,57,0
2 198273347 rs77132083 T C 233.71 PASS AB=0.565;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.07;DB;DP=23;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.155;QD=10.16;ReadPosRankSum=-0.589;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SF3B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470268 GT:AD:DP:GQ:PL 0/1:13,10:23:99:264,0,444
2 198281743 rs699318 T C 827.76 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.99;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SF3B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000414174 GT:AD:DP:GQ:PL 1/1:0,23:23:69.21:861,69,0
2 198281776 rs699319 C A 544.83 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.92;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SF3B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000414174 GT:AD:DP:GQ:PL 1/1:0,14:14:42.14:578,42,0
2 198283305 rs788023 T C 853.19 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.47;SNPEFF_AMINO_ACID_CHANGE=K141;SNPEFF_CODON_CHANGE=aaA/aaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_198283233_198283312;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SF3B1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000335508 GT:AD:DP:GQ:PL 1/1:0,28:28:69.20:886,69,0
2 198285554 rs2565161 C G 86.31 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.77;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SF3B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000335508 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:118,9,0
2 198327314 rs3754822 G A 640.47 PASS AB=0.405;AC=1;AF=0.50;AN=2;BaseQRankSum=1.562;DB;DP=38;Dels=0.0;FS=1.988;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.108;QD=16.85;ReadPosRankSum=0.356;SNPEFF_AMINO_ACID_CHANGE=K102;SNPEFF_CODON_CHANGE=aaG/aaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_198327263_198327455;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COQ10B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000263960 GT:AD:DP:GQ:PL 0/1:15,22:38:99:670,0,462
2 198355135 . T TTG 418.53 PASS AC=2;AF=1.00;AN=2;DP=11;FS=0.0;HRun=0;HaplotypeScore=46.009;IndelType=I;MQ=57.87;MQ0=0;QD=38.05;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HSPD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000430176 GT:AD:DP:GQ:PL 1/1:3,8:11:27.09:461,27,0
2 198355153 rs11682567 T G 156.67 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.387;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.87;MQ0=0;MQRankSum=1.031;QD=14.24;ReadPosRankSum=0.717;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HSPD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000430176 GT:AD:DP:GQ:PL 0/1:5,6:11:99:187,0,170
2 198359027 rs7585486 G C 508.31 PASS AB=0.553;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.56;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.39;MQ0=0;MQRankSum=-1.426;QD=13.38;ReadPosRankSum=-0.138;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HSPD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418022 GT:AD:DP:GQ:PL 0/1:21,17:38:99:538,0,737
2 198359315 . CAGATAACTCAAACTTTTGATCATA C 729.84 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=2.243;DP=16;FS=0.0;HRun=0;HaplotypeScore=338.6594;IndelType=D;MQ=50.04;MQ0=0;MQRankSum=-1.516;QD=45.62;ReadPosRankSum=1.031;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HSPD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418022 GT:AD:DP:GQ:PL 0/1:6,10:16:99:769,0,909
2 198362018 rs8539 T C 1782.08 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.3123;MQ=59.67;MQ0=0;QD=31.82;SNPEFF_AMINO_ACID_CHANGE=K133;SNPEFF_CODON_CHANGE=aaA/aaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_198361892_198362116;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HSPD1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000426480 GT:AD:DP:GQ:PL 1/1:0,56:56:99:1815,138,0
2 198363504 rs1050347 A G 1400.69 PASS AB=0.342;AC=1;AF=0.50;AN=2;BaseQRankSum=0.738;DB;DP=76;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.9726;MQ=58.47;MQ0=0;MQRankSum=0.389;QD=18.43;ReadPosRankSum=-1.378;SNPEFF_AMINO_ACID_CHANGE=T23;SNPEFF_CODON_CHANGE=acT/acC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_198363399_198363574;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HSPD1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000345042 GT:AD:DP:GQ:PL 0/1:26,50:76:99:1431,0,699
2 198365043 rs1116734 C G 40.99 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=13.66;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HSPD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426480 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:72,6,0
2 198365788 rs2305560 C T 701.88 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.909;DB;DP=40;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.59;MQ0=0;MQRankSum=0.938;QD=17.55;ReadPosRankSum=0.996;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HSPD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426480 GT:AD:DP:GQ:PL 0/1:16,24:40:99:732,0,463
2 198498316 rs1979239 T G 320.52 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.61;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RFTN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295049 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:354,27,0
2 198508951 rs10497806 G A 4101.37 PASS AC=2;AF=1.00;AN=2;DB;DP=117;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9867;MQ=59.61;MQ0=0;QD=35.05;SNPEFF_AMINO_ACID_CHANGE=L123;SNPEFF_CODON_CHANGE=ctC/ctT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_198508882_198508996;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RFTN2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000295049 GT:AD:DP:GQ:PL 1/1:1,116:117:99:4101,298,0
2 198509058 rs16866940 C T 593.78 PASS AB=0.441;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.079;DB;DP=34;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9332;MQ=60.0;MQ0=0;MQRankSum=-0.307;QD=17.46;ReadPosRankSum=0.922;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RFTN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295049 GT:AD:DP:GQ:PL 0/1:15,19:34:99:624,0,454
2 198511086 rs16866970 G A 394.66 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.231;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.022;QD=17.94;ReadPosRankSum=1.22;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RFTN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295049 GT:AD:DP:GQ:PL 0/1:10,12:22:99:425,0,341
2 198623751 rs73054817 A G 325.92 PASS AB=0.541;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.628;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.43;MQ0=0;MQRankSum=-0.209;QD=8.81;ReadPosRankSum=-0.837;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC011997.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409845 GT:AD:DP:GQ:PL 0/1:20,17:37:99:356,0,529
2 198643631 rs700655 G A 218.63 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=3.016;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.377;QD=16.82;ReadPosRankSum=0.377;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC011997.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409845 GT:AD:DP:GQ:PL 0/1:6,7:13:99:249,0,182
2 198950029 rs2228135 A G 680.61 PASS AB=0.519;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.849;DB;DP=52;Dels=0.0;FS=1.13;HRun=0;HaplotypeScore=0.0;MQ=59.56;MQ0=0;MQRankSum=0.603;QD=13.09;ReadPosRankSum=-2.141;SNPEFF_AMINO_ACID_CHANGE=Q498;SNPEFF_CODON_CHANGE=caA/caG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_198948536_198950956;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PLCL1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000437704 GT:AD:DP:GQ:PL 0/1:27,25:52:99:711,0,862
2 198950968 rs3821243 A AT 684.73 PASS AB=0.617;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.387;DB;DP=28;FS=0.0;HRun=0;HaplotypeScore=59.1687;IndelType=I;MQ=59.58;MQ0=0;MQRankSum=-0.376;QD=23.61;ReadPosRankSum=-0.094;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PLCL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000487695 GT:AD:DP:GQ:PL 0/1:11,18:28:99:724,0,371
2 198953816 rs3213867 G A 647.84 PASS AB=0.442;AC=1;AF=0.50;AN=2;BaseQRankSum=1.235;DB;DP=43;Dels=0.02;FS=3.59;HRun=0;HaplotypeScore=9.338;MQ=58.95;MQ0=0;MQRankSum=-0.648;QD=14.72;ReadPosRankSum=-1.724;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PLCL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000487695 GT:AD:DP:GQ:PL 0/1:19,24:43:99:678,0,527
2 198966257 rs3732231 T C 73.70 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.57;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PLCL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000428675 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:106,9,0
2 200173684 rs10153730 T G 591.06 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.94;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SATB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260926 GT:AD:DP:GQ:PL 1/1:0,16:16:45.15:624,45,0
2 200245245 rs1348813 C G 1208.15 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.97;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SATB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260926 GT:AD:DP:GQ:PL 1/1:0,31:31:93.28:1241,93,0
2 200298313 rs7596597 A G 1444.40 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=58.98;MQ0=0;QD=35.23;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SATB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260926 GT:AD:DP:GQ:PL 1/1:0,41:41:99:1477,108,0
2 200800493 rs6435039 A G 71.64 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=1.067;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.933;MQ=54.65;MQ0=0;MQRankSum=1.067;QD=7.96;ReadPosRankSum=-1.067;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TYW5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354611 GT:AD:DP:GQ:PL 0/1:3,6:9:7.68:101,0,8
2 200808455 rs16832081 A G 339.05 PASS AB=0.478;AC=1;AF=0.50;AN=2;BaseQRankSum=0.523;DB;DP=23;Dels=0.0;FS=6.628;HRun=0;HaplotypeScore=1.8997;MQ=58.99;MQ0=0;MQRankSum=0.031;QD=14.74;ReadPosRankSum=0.892;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TYW5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354611 GT:AD:DP:GQ:PL 0/1:11,12:23:99:369,0,374
2 200820505 rs281766 T G 721.12 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.07;MQ0=0;QD=28.84;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf69;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491721 GT:AD:DP:GQ:PL 1/1:0,25:25:57.19:754,57,0
2 200872942 rs6414157 C T 89.28 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.017;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.95;MQ0=0;MQRankSum=-0.922;QD=11.16;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRAGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf47;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 0/1:4,4:8:99:119,0,144
2 200873144 rs113489455 AATACAAAAAAAACTTG A 530.12 PASS AB=0.808;AC=1;AF=0.50;AN=2;BaseQRankSum=2.731;DB;DP=21;FS=0.0;HRun=0;HaplotypeScore=284.0313;IndelType=D;MQ=53.79;MQ0=0;MQRankSum=-1.991;QD=25.24;ReadPosRankSum=0.509;SNPEFF_EFFECT=INTRAGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf47;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 0/1:16,5:21:99:569,0,2778
2 201173620 rs3769481 A G 76.20 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.38;QD=12.7;ReadPosRankSum=-0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPATS2L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358677 GT:AD:DP:GQ:PL 0/1:2,4:6:66.83:106,0,67
2 201194279 rs3739119 C A 388.14 PASS AB=0.576;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.058;DB;DP=34;Dels=0.0;FS=2.993;HRun=0;HaplotypeScore=2.6884;MQ=59.32;MQ0=0;MQRankSum=0.82;QD=11.42;ReadPosRankSum=0.127;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPATS2L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358677 GT:AD:DP:GQ:PL 0/1:19,14:34:99:418,0,586
2 201254049 rs3820881 G C 1414.39 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.15;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPATS2L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000428692 GT:AD:DP:GQ:PL 1/1:0,44:44:99:1447,117,0
2 201254171 rs4674015 A G 133.46 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.37;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPATS2L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000428692 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:166,12,0
2 201277011 rs11382442 CT C 36.76 QDFilter2 AB=0.828;AC=1;AF=0.50;AN=2;BaseQRankSum=1.307;DB;DP=48;FS=0.0;HRun=13;HaplotypeScore=231.4304;IndelType=D;MQ=59.03;MQ0=0;MQRankSum=0.277;QD=0.77;ReadPosRankSum=0.436;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPATS2L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358677 GT:AD:DP:GQ:PL 0/1:37,8:48:75.79:76,0,842
2 201277181 rs6706953 T C 619 PASS AB=0.551;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.216;DB;DP=49;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.6281;MQ=59.05;MQ0=0;MQRankSum=-0.774;QD=12.63;ReadPosRankSum=0.573;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPATS2L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000444012 GT:AD:DP:GQ:PL 0/1:27,22:49:99:649,0,945
2 201277321 rs2083119 C T 76.26 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.9313;MQ=57.39;MQ0=0;MQRankSum=0.358;QD=8.47;ReadPosRankSum=0.358;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPATS2L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000444012 GT:AD:DP:GQ:PL 0/1:4,5:9:64.96:106,0,65
2 201334404 rs17532280 C A 169.59 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.92;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPATS2L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000438761 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:202,15,0
2 201334852 rs17532294 A G 1398.95 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.12;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPATS2L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409397 GT:AD:DP:GQ:PL 1/1:0,41:41:99:1432,108,0
2 201337359 rs2241805 G C 121.69 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.731;QD=24.34;ReadPosRankSum=0.731;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPATS2L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409397 GT:AD:DP:GQ:PL 0/1:1,4:5:24.96:152,0,25
2 201354937 . AGGCGCGGT A 1183.49 PASS AB=0.719;AC=1;AF=0.50;AN=2;BaseQRankSum=4.091;DP=41;FS=3.069;HRun=0;HaplotypeScore=324.8754;IndelType=D;MQ=47.48;MQ0=0;MQRankSum=-4.919;QD=28.87;ReadPosRankSum=1.003;SNPEFF_EFFECT=FRAME_SHIFT;SNPEFF_EXON_ID=exon_2_201353675_201355339;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCTD18;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000359878 GT:AD:DP:GQ:PL 0/1:25,16:41:99:1223,0,2292
2 201355106 rs13018579 G A 459.28 PASS AB=0.512;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.995;DB;DP=42;Dels=0.0;FS=7.702;HRun=0;HaplotypeScore=0.0;MQ=57.2;MQ0=0;MQRankSum=-0.091;QD=10.94;ReadPosRankSum=-0.248;SNPEFF_AMINO_ACID_CHANGE=A333V;SNPEFF_CODON_CHANGE=gCc/gTc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_201353675_201355339;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCTD18;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000359878 GT:AD:DP:GQ:PL 0/1:21,20:42:99:489,0,681
2 201371768 rs3739116 G T 635.72 PASS AB=0.355;AC=1;AF=0.50;AN=2;BaseQRankSum=1.254;DB;DP=32;Dels=0.0;FS=1.661;HRun=0;HaplotypeScore=0.9993;MQ=57.05;MQ0=0;MQRankSum=-0.33;QD=19.87;ReadPosRankSum=1.518;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCTD18;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000447556 GT:AD:DP:GQ:PL 0/1:11,20:32:99:666,0,291
2 201397569 rs842940 G A 199.57 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SGOL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357799 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:232,18,0
2 201397647 rs842939 A C 1484.01 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.05;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SGOL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357799 GT:AD:DP:GQ:PL 1/1:0,39:39:99:1517,114,0
2 201437328 rs35987478 C A 477.10 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.747;DB;DP=38;Dels=0.0;FS=1.323;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=2.507;QD=12.56;ReadPosRankSum=0.441;SNPEFF_AMINO_ACID_CHANGE=I753;SNPEFF_CODON_CHANGE=atC/atA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_201435773_201438700;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SGOL2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000357799 GT:AD:DP:GQ:PL 0/1:19,19:38:99:507,0,566
2 201437334 rs12052989 T C 485.69 PASS AB=0.463;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.517;DB;DP=41;Dels=0.0;FS=1.303;HRun=3;HaplotypeScore=0.0;MQ=59.44;MQ0=0;MQRankSum=-2.14;QD=11.85;ReadPosRankSum=0.081;SNPEFF_AMINO_ACID_CHANGE=P755;SNPEFF_CODON_CHANGE=ccT/ccC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_201435773_201438700;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SGOL2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000357799 GT:AD:DP:GQ:PL 0/1:19,22:41:99:516,0,543
2 201440299 rs3764778 A G 182.04 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.78;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.068;QD=13.0;ReadPosRankSum=-0.421;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SGOL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357799 GT:AD:DP:GQ:PL 0/1:7,7:14:99:212,0,245
2 201464295 rs10179964 T C 582.32 PASS AB=0.389;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.051;DB;DP=36;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.195;QD=16.18;ReadPosRankSum=1.566;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AOX1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374700 GT:AD:DP:GQ:PL 0/1:14,22:36:99:612,0,386
2 201464565 rs12993144 C T 77.37 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=3.979;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.231;QD=15.47;ReadPosRankSum=1.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AOX1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374700 GT:AD:DP:GQ:PL 0/1:2,3:5:66.03:107,0,66
2 201470233 rs112079712 ATTT A 667.36 PASS AB=0.663;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.249;DB;DP=53;FS=4.236;HRun=15;HaplotypeScore=290.397;IndelType=D;MQ=57.34;MQ0=0;MQRankSum=-1.138;QD=12.59;ReadPosRankSum=1.539;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AOX1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000454629 GT:AD:DP:GQ:PL 0/1:21,23:53:99:706,0,782
2 201473674 rs2470902 G A 243.16 PASS AB=0.609;AC=1;AF=0.50;AN=2;BaseQRankSum=3.118;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.472;QD=10.57;ReadPosRankSum=1.732;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AOX1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374700 GT:AD:DP:GQ:PL 0/1:14,9:23:99:273,0,408
2 201474237 rs4672858 A G 580.11 PASS AB=0.111;AC=1;AF=0.50;AN=2;BaseQRankSum=1.194;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.211;QD=32.23;ReadPosRankSum=-0.211;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AOX1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374700 GT:AD:DP:GQ:PL 0/1:2,16:18:28.28:610,0,28
2 201485572 rs4672865 A G 368.53 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.995;DB;DP=28;Dels=0.0;FS=9.864;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.189;QD=13.16;ReadPosRankSum=-0.607;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AOX1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374700 GT:AD:DP:GQ:PL 0/1:14,14:28:99:399,0,402
2 201485649 rs4672866 T G 350.57 PASS AB=0.52;AC=1;AF=0.50;AN=2;BaseQRankSum=1.169;DB;DP=25;Dels=0.0;FS=3.834;HRun=0;HaplotypeScore=0.8941;MQ=59.25;MQ0=0;MQRankSum=-1.169;QD=14.02;ReadPosRankSum=-0.462;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AOX1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374700 GT:AD:DP:GQ:PL 0/1:13,12:25:99:381,0,460
2 201485747 rs6761252 G T 1027.85 PASS AB=0.377;AC=1;AF=0.50;AN=2;BaseQRankSum=1.444;DB;DP=61;Dels=0.0;FS=3.369;HRun=2;HaplotypeScore=0.0;MQ=59.62;MQ0=0;MQRankSum=-0.715;QD=16.85;ReadPosRankSum=-0.395;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AOX1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374700 GT:AD:DP:GQ:PL 0/1:23,38:61:99:1058,0,734
2 201485830 rs6761375 G A 1888.59 PASS AB=0.404;AC=1;AF=0.50;AN=2;BaseQRankSum=0.226;DB;DP=109;Dels=0.0;FS=11.245;HRun=0;HaplotypeScore=3.8999;MQ=59.79;MQ0=0;MQRankSum=-0.214;QD=17.33;ReadPosRankSum=0.494;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AOX1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374700 GT:AD:DP:GQ:PL 0/1:44,65:109:99:1919,0,1252
2 201488413 rs4035120 A G 478.86 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.2;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AOX1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374700 GT:AD:DP:GQ:PL 1/1:0,14:14:39.13:512,39,0
2 201488435 rs3795968 T C 292.28 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.854;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.618;QD=16.24;ReadPosRankSum=1.148;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AOX1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374700 GT:AD:DP:GQ:PL 0/1:9,9:18:99:322,0,300
2 201488758 rs2348021 A G 648.35 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.404;DB;DP=21;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.404;QD=30.87;ReadPosRankSum=0.083;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AOX1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374700 GT:AD:DP:GQ:PL 1/1:1,20:21:32.47:681,32,0
2 201515939 rs868810 T C 1099.04 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.7;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AOX1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374700 GT:AD:DP:GQ:PL 1/1:0,37:37:93.25:1132,93,0
2 201533215 rs6730363 C T 149.49 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.036;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.633;QD=14.95;ReadPosRankSum=-1.133;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AOX1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260930 GT:AD:DP:GQ:PL 0/1:4,6:10:99:179,0,139
2 201534136 rs2715907 C T 396.95 PASS AB=0.478;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.523;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=58.99;MQ0=0;MQRankSum=1.816;QD=17.26;ReadPosRankSum=-0.092;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AOX1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260930 GT:AD:DP:GQ:PL 0/1:11,12:23:99:427,0,383
2 201677454 rs2270281 C T 127.24 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.81;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BZW1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409226 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:160,12,0
2 201677791 rs2270280 T C 558.30 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.89;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BZW1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409226 GT:AD:DP:GQ:PL 1/1:0,16:16:45.13:591,45,0
2 201679931 rs12475785 G T 241.47 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.18;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BZW1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460660 GT:AD:DP:GQ:PL 1/1:0,8:8:21.07:274,21,0
2 201683695 rs2881880 T C 801.90 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.81;MQ0=0;QD=28.64;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BZW1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000410110 GT:AD:DP:GQ:PL 1/1:0,28:28:66.21:835,66,0
2 201686122 rs3815501 T C 2034.90 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.12;MQ0=0;QD=33.36;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BZW1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000410110 GT:AD:DP:GQ:PL 1/1:0,61:61:99:2068,163,0
2 201686666 rs6705053 C T 48.72 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.36;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BZW1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000410110 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:80,6,0
2 201719258 rs5837758 CA C 49.10 PASS AB=0.68;AC=1;AF=0.50;AN=2;BaseQRankSum=0.15;DB;DP=17;FS=0.0;HRun=16;HaplotypeScore=103.1981;IndelType=D;MQ=58.63;MQ0=0;MQRankSum=1.448;QD=2.89;ReadPosRankSum=1.324;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000321356 GT:AD:DP:GQ:PL 0/1:8,7:17:88.13:88,0,121
2 201724360 rs12465952 A G 814.75 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.95;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481641 GT:AD:DP:GQ:PL 1/1:0,24:24:63.20:848,63,0
2 201874011 rs187316762 A T 81.11 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.04;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=FAM126B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418596 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:113,9,0
2 201928485 rs10206365 A G 1345.25 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.58;MQ0=0;QD=32.81;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=FAM126B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418596 GT:AD:DP:GQ:PL 1/1:0,41:41:99:1378,111,0
2 202025131 rs2518142 G A 1889.48 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;QD=32.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CFLAR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309955 GT:AD:DP:GQ:PL 1/1:0,58:58:99:1922,141,0
2 202073764 rs5837767 C CT 108.72 PASS AB=0.826;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.913;DB;DP=37;FS=3.163;HRun=16;HaplotypeScore=343.4503;IndelType=I;MQ=41.81;MQ0=1;MQRankSum=-0.373;QD=2.86;ReadPosRankSum=1.286;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CASP10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000438843 GT:AD:DP:GQ:PL 0/1:30,6:37:99:148,0,136
2 202149416 . ACG A 332.94 PASS AC=2;AF=1.00;AN=2;DP=9;FS=0.0;HRun=0;HaplotypeScore=94.651;IndelType=D;MQ=43.65;MQ0=0;QD=36.99;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALS2CR12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000286190 GT:AD:DP:GQ:PL 1/1:2,7:9:24.08:375,24,0
2 202151388 rs41309822 G A 149.61 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.198;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.198;QD=21.37;ReadPosRankSum=-0.922;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALS2CR12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000286190 GT:AD:DP:GQ:PL 0/1:2,5:7:60.17:180,0,60
2 202151400 rs17860428 G A 120.66 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.13;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALS2CR12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000286190 GT:AD:DP:GQ:PL 1/1:1,4:5:12.04:153,12,0
2 202249060 rs2540328 C T 339.29 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.84;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRAK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000332624 GT:AD:DP:GQ:PL 1/1:0,11:11:30.07:372,30,0
2 202252478 rs35620793 A G 594.25 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.709;DB;DP=55;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.57;MQ=59.66;MQ0=0;MQRankSum=-0.271;QD=10.8;ReadPosRankSum=-0.184;SNPEFF_AMINO_ACID_CHANGE=S454;SNPEFF_CODON_CHANGE=agT/agC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_202252426_202252724;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRAK2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000542292 GT:AD:DP:GQ:PL 0/1:35,20:55:99:624,0,1034
2 202252539 rs2244438 G A 2388.74 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.32;SNPEFF_AMINO_ACID_CHANGE=T434I;SNPEFF_CODON_CHANGE=aCa/aTa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_202252426_202252724;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRAK2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000542292 GT:AD:DP:GQ:PL 1/1:0,64:64:99:2422,184,0
2 202252856 rs2540330 T C 245.32 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.66;MQ0=0;QD=24.53;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STRADB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000458269 GT:AD:DP:GQ:PL 1/1:0,10:10:21.05:278,21,0
2 202252873 rs2540331 A C 235.77 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.68;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STRADB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000458269 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:269,21,0
2 202260049 rs2256584 G A 2511.15 PASS AC=2;AF=1.00;AN=2;DB;DP=73;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.4;SNPEFF_AMINO_ACID_CHANGE=H202;SNPEFF_CODON_CHANGE=caC/caT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_202260037_202260167;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRAK2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000542292 GT:AD:DP:GQ:PL 1/1:0,73:73:99:2544,187,0
2 202272482 rs10689466 G GT 124.21 PASS AC=2;AF=1.00;AN=2;DB;DP=7;FS=0.0;HRun=9;HaplotypeScore=13.4746;IndelType=I;MQ=60.0;MQ0=0;QD=17.74;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STRADB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000458269 GT:AD:DP:GQ:PL 1/1:2,5:7:15.04:166,15,0
2 202342802 rs2243791 T C 1985.07 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.6651;MQ=58.99;MQ0=0;QD=33.08;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STRADB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000447698 GT:AD:DP:GQ:PL 1/1:0,60:60:99:2018,150,0
2 202344179 rs34469362 GT G 1180.85 PASS AC=2;AF=1.00;AN=2;DB;DP=50;FS=0.0;HRun=10;HaplotypeScore=145.1233;IndelType=D;MQ=60.1;MQ0=0;QD=23.62;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STRADB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000447698 GT:AD:DP:GQ:PL 1/1:2,48:50:99:1223,141,0
2 202352649 rs2714481 A G 583.70 PASS AB=0.357;AC=1;AF=0.50;AN=2;BaseQRankSum=1.894;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.558;QD=20.85;ReadPosRankSum=0.887;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALS2CR11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000286195 GT:AD:DP:GQ:PL 0/1:10,18:28:99:614,0,327
2 202352733 rs965675 A T 70.82 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.55;QD=10.12;ReadPosRankSum=1.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALS2CR11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000286195 GT:AD:DP:GQ:PL 0/1:4,3:7:99:101,0,144
2 202357949 rs2714482 A C 1485.93 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.77;SNPEFF_AMINO_ACID_CHANGE=C1039G;SNPEFF_CODON_CHANGE=Tgt/Ggt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_202355892_202359482;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALS2CR11;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000439140 GT:AD:DP:GQ:PL 1/1:0,44:44:99:1519,120,0
2 202439790 . A AGAG 126.57 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.422;DP=14;FS=0.0;HRun=0;HaplotypeScore=184.5183;IndelType=I;MQ=54.13;MQ0=0;MQRankSum=1.422;QD=9.04;ReadPosRankSum=-0.573;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALS2CR11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000286195 GT:AD:DP:GQ:PL 0/1:6,5:14:84.25:166,0,84
2 202447009 rs13425990 C T 745.30 PASS AB=0.525;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.851;DB;DP=59;Dels=0.0;FS=4.969;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.296;QD=12.63;ReadPosRankSum=0.264;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALS2CR11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000286195 GT:AD:DP:GQ:PL 0/1:31,28:59:99:775,0,878
2 202468136 rs10205247 T A 415.61 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.78;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALS2CR11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000286195 GT:AD:DP:GQ:PL 1/1:0,11:11:33.11:449,33,0
2 202469118 rs4673203 G A 35.68 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.84;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALS2CR11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000286195 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:67,6,0
2 202469361 rs12474206 C T 3196.82 PASS AC=2;AF=1.00;AN=2;DB;DP=93;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=60.0;MQ0=0;QD=34.37;SNPEFF_AMINO_ACID_CHANGE=T97;SNPEFF_CODON_CHANGE=acG/acA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_202469334_202469420;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALS2CR11;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000286195 GT:AD:DP:GQ:PL 1/1:0,93:93:99:3230,244,0
2 202469472 rs7572583 A G 1487.33 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.18;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALS2CR11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000286195 GT:AD:DP:GQ:PL 1/1:0,40:40:99:1520,114,0
2 202469533 rs7560158 T G 534.52 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9989;MQ=60.0;MQ0=0;QD=38.18;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALS2CR11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000286195 GT:AD:DP:GQ:PL 1/1:0,14:14:42.14:568,42,0
2 202491995 rs2540450 G A 372.41 PASS AB=0.595;AC=1;AF=0.50;AN=2;BaseQRankSum=1.748;DB;DP=37;Dels=0.0;FS=1.696;HRun=4;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=-0.789;QD=10.07;ReadPosRankSum=-0.696;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM237;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000432684 GT:AD:DP:GQ:PL 0/1:22,15:37:99:402,0,620
2 202501448 rs1208081 T C 287.93 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.345;DB;DP=32;Dels=0.0;FS=1.702;HRun=1;HaplotypeScore=0.9734;MQ=59.28;MQ0=0;MQRankSum=0.669;QD=9.0;ReadPosRankSum=0.588;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM237;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463205 GT:AD:DP:GQ:PL 0/1:20,12:32:99:318,0,674
2 202505740 rs2540424 T A 220.42 PASS AB=0.3;AC=1;AF=0.50;AN=2;BaseQRankSum=0.762;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.66;MQ0=0;MQRankSum=0.067;QD=22.04;ReadPosRankSum=0.067;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MPP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315506 GT:AD:DP:GQ:PL 0/1:3,7:10:52.47:250,0,52
2 202526353 rs12052740 T C 226.16 PASS AB=0.68;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.146;DB;DP=25;Dels=0.0;FS=2.782;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.728;QD=9.05;ReadPosRankSum=0.437;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MPP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000486212 GT:AD:DP:GQ:PL 0/1:17,8:25:99:256,0,552
2 202526366 rs62193397 G A 394.82 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=21;Dels=0.0;FS=2.831;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.187;QD=18.8;ReadPosRankSum=0.261;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MPP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000486212 GT:AD:DP:GQ:PL 0/1:7,14:21:99:425,0,232
2 202528830 rs74887695 A AT 573.74 PASS AB=0.654;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.818;DB;DP=34;FS=5.449;HRun=5;HaplotypeScore=78.0789;IndelType=I;MQ=60.0;MQ0=0;MQRankSum=0.095;QD=16.87;ReadPosRankSum=1.045;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MPP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000486212 GT:AD:DP:GQ:PL 0/1:16,18:34:99:613,0,353
2 202531136 rs17384314 G C 254.84 PASS AB=0.618;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.028;DB;DP=34;Dels=0.0;FS=7.61;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.071;QD=7.5;ReadPosRankSum=-0.815;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MPP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315506 GT:AD:DP:GQ:PL 0/1:21,13:34:99:285,0,695
2 202531264 rs62193398 T C 34.69 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.35;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MPP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315506 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:66,6,0
2 202546113 rs1208073 T C 799.89 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.09;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MPP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315506 GT:AD:DP:GQ:PL 1/1:0,21:21:63.20:833,63,0
2 202549666 rs1812932 A C 81.74 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.956;DB;DP=8;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9983;MQ=46.53;MQ0=0;MQRankSum=-0.322;QD=10.22;ReadPosRankSum=-1.221;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MPP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315506 GT:AD:DP:GQ:PL 0/1:3,5:8:94.26:112,0,94
2 202549975 rs28690266 C T 89.89 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=0.55;DB;DP=7;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=49.17;MQ0=0;MQRankSum=-1.3;QD=12.84;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MPP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315506 GT:AD:DP:GQ:PL 0/1:3,4:7:99:120,0,101
2 202549982 rs28524596 T A 52.25 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.537;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=47.12;MQ0=0;MQRankSum=-1.537;QD=8.71;ReadPosRankSum=0.406;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MPP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315506 GT:AD:DP:GQ:PL 0/1:3,3:6:82.25:82,0,105
2 202557702 rs6725443 C T 1163.07 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.28;MQ0=0;QD=36.35;SNPEFF_AMINO_ACID_CHANGE=G44S;SNPEFF_CODON_CHANGE=Ggc/Agc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_202557631_202557752;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MPP4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000315506 GT:AD:DP:GQ:PL 1/1:0,32:32:90.29:1196,90,0
2 202557904 rs2540425 C T 174.36 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MPP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315506 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:207,15,0
2 202558415 rs7590550 T C 286.81 PASS AB=0.438;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.318;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.423;QD=17.93;ReadPosRankSum=-0.953;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MPP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315506 GT:AD:DP:GQ:PL 0/1:7,9:16:99:317,0,239
2 202566741 rs7603563 T C 130.46 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.62;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264276 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:163,12,0
2 202569654 rs7598082 C A 50.63 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264276 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
2 202569992 rs3219171 A T 558.30 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.89;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264276 GT:AD:DP:GQ:PL 1/1:0,16:16:45.14:591,45,0
2 202570232 rs3219170 A G 770.73 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.51;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264276 GT:AD:DP:GQ:PL 1/1:0,23:23:60.20:804,60,0
2 202571562 rs3219169 C T 853.50 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.75;DB;DP=71;Dels=0.0;FS=0.967;HRun=0;HaplotypeScore=0.0;MQ=59.68;MQ0=0;MQRankSum=-0.331;QD=12.02;ReadPosRankSum=-0.934;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264276 GT:AD:DP:GQ:PL 0/1:40,31:71:99:883,0,1124
2 202572806 rs2058662 C G 968.92 PASS AB=0.515;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.237;DB;DP=69;Dels=0.0;FS=2.278;HRun=1;HaplotypeScore=1.8055;MQ=59.39;MQ0=0;MQRankSum=1.264;QD=14.04;ReadPosRankSum=0.443;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264276 GT:AD:DP:GQ:PL 0/1:35,33:69:99:999,0,1140
2 202572925 rs2058661 C T 405.48 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.79;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264276 GT:AD:DP:GQ:PL 1/1:0,12:12:33.11:438,33,0
2 202574825 rs1210940 C T 618.50 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.63;MQ0=0;QD=36.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264276 GT:AD:DP:GQ:PL 1/1:0,17:17:48.16:651,48,0
2 202575717 rs61757691 T C 978.55 PASS AB=0.507;AC=1;AF=0.50;AN=2;BaseQRankSum=3.706;DB;DP=67;Dels=0.0;FS=0.969;HRun=0;HaplotypeScore=0.0;MQ=59.66;MQ0=0;MQRankSum=-0.27;QD=14.61;ReadPosRankSum=0.796;SNPEFF_AMINO_ACID_CHANGE=I1373M;SNPEFF_CODON_CHANGE=atA/atG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_202575714_202575831;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALS2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000264276 GT:AD:DP:GQ:PL 0/1:34,33:67:99:1009,0,1092
2 202575821 rs3219168 G A 1680.34 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.34;SNPEFF_AMINO_ACID_CHANGE=L1339;SNPEFF_CODON_CHANGE=Ctg/Ttg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_202575714_202575831;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALS2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000264276 GT:AD:DP:GQ:PL 1/1:0,45:45:99:1713,126,0
2 202575907 rs2882231 A G 186.70 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=1.031;DB;DP=11;Dels=0.0;FS=7.404;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.387;QD=16.97;ReadPosRankSum=-0.143;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264276 GT:AD:DP:GQ:PL 0/1:5,6:11:99:217,0,162
2 202575942 rs10200479 C T 126.54 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.731;QD=25.31;ReadPosRankSum=0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264276 GT:AD:DP:GQ:PL 0/1:1,4:5:20.20:157,0,20
2 202580268 rs10469756 T C 162.66 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.53;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000489440 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:195,15,0
2 202580370 rs3219167 G A 1054.68 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.37;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000489440 GT:AD:DP:GQ:PL 1/1:0,29:29:81.26:1088,81,0
2 202587653 rs7572898 C T 213.28 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.421;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.299;QD=15.23;ReadPosRankSum=1.406;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000494017 GT:AD:DP:GQ:PL 0/1:7,7:14:99:243,0,244
2 202589257 rs3219163 T C 306.41 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=0.58;DB;DP=28;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=-0.905;QD=10.94;ReadPosRankSum=-0.162;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000483703 GT:AD:DP:GQ:PL 0/1:16,12:28:99:336,0,518
2 202593186 rs141560438 TA T 1060.94 PASS AB=0.677;AC=1;AF=0.50;AN=2;BaseQRankSum=3.973;DB;DP=65;FS=0.0;HRun=1;HaplotypeScore=170.7279;IndelType=D;MQ=59.53;MQ0=0;MQRankSum=0.65;QD=16.32;ReadPosRankSum=0.164;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000483703 GT:AD:DP:GQ:PL 0/1:34,31:65:99:1100,0,1420
2 202594039 rs13029960 A G 74.35 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.95;MQ0=0;MQRankSum=0.727;QD=18.59;ReadPosRankSum=-0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264276 GT:AD:DP:GQ:PL 0/1:1,3:4:27.97:104,0,28
2 202598113 rs2276615 C T 443.54 PASS AB=0.515;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.491;DB;DP=33;Dels=0.0;FS=3.256;HRun=2;HaplotypeScore=0.0;MQ=59.3;MQ0=0;MQRankSum=0.378;QD=13.44;ReadPosRankSum=-0.378;SNPEFF_AMINO_ACID_CHANGE=V134;SNPEFF_CODON_CHANGE=gtG/gtA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_202597999_202598161;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALS2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000457679 GT:AD:DP:GQ:PL 0/1:17,16:33:99:474,0,517
2 202606639 rs3731703 G A 74.69 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.221;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.92;QD=9.34;ReadPosRankSum=0.322;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264276 GT:AD:DP:GQ:PL 0/1:5,3:8:99:105,0,151
2 202608877 rs4673207 C A 285.71 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.148;DB;DP=18;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.1567;MQ=58.71;MQ0=0;MQRankSum=0.883;QD=15.87;ReadPosRankSum=0.353;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264276 GT:AD:DP:GQ:PL 0/1:9,9:18:99:316,0,274
2 202614632 rs41308828 T G 33.41 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=1.495;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.198;QD=4.77;ReadPosRankSum=1.495;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264276 GT:AD:DP:GQ:PL 0/1:5,2:7:63.40:63,0,168
2 202619175 rs41308820 G C 1089.29 PASS AB=0.466;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.006;DB;DP=73;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9734;MQ=60.0;MQ0=0;MQRankSum=0.448;QD=14.92;ReadPosRankSum=1.521;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264276 GT:AD:DP:GQ:PL 0/1:34,39:73:99:1119,0,996
2 202619413 . TG T 459.06 PASS AB=0.644;AC=1;AF=0.50;AN=2;BaseQRankSum=3.399;DP=29;FS=7.204;HRun=4;HaplotypeScore=77.3133;IndelType=D;MQ=60.74;MQ0=0;MQRankSum=-0.501;QD=15.83;ReadPosRankSum=-1.133;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467448 GT:AD:DP:GQ:PL 0/1:13,16:29:99:498,0,342
2 202622509 rs28729117 T C 410.63 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.33;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409632 GT:AD:DP:GQ:PL 1/1:0,11:11:33.11:444,33,0
2 202625615 rs3219156 C T 1539.63 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.46;MQ0=0;QD=35.81;SNPEFF_AMINO_ACID_CHANGE=V368M;SNPEFF_CODON_CHANGE=Gtg/Atg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_202625604_202626541;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALS2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000264276 GT:AD:DP:GQ:PL 1/1:0,43:43:99:1573,117,0
2 202626625 rs2075194 A C 494.23 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.02;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462747 GT:AD:DP:GQ:PL 1/1:0,13:13:39.13:527,39,0
2 202630424 rs1465320 G A 1311.85 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.46;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264276 GT:AD:DP:GQ:PL 1/1:0,37:37:99:1345,102,0
2 202630513 rs10194619 T C 1130.76 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;QD=34.27;SNPEFF_EFFECT=SPLICE_SITE_DONOR;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALS2;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000496244 GT:AD:DP:GQ:PL 1/1:0,33:33:84.28:1164,84,0
2 202633582 rs3219153 A G 1114.55 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=55.52;MQ0=0;QD=34.83;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264276 GT:AD:DP:GQ:PL 1/1:0,32:32:87.27:1148,87,0
2 202633725 rs10655798 T TA 57.22 PASS AC=2;AF=1.00;AN=2;DB;DP=9;FS=0.0;HRun=13;HaplotypeScore=110.4721;IndelType=I;MQ=43.65;MQ0=0;QD=6.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264276 GT:AD:DP:GQ:PL 1/1:2,6:9:11.89:99,12,0
2 202671381 rs2192672 C G 291.52 PASS AB=0.633;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.506;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.9276;MQ=60.0;MQ0=0;MQRankSum=-0.172;QD=9.72;ReadPosRankSum=0.516;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CDK15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260967 GT:AD:DP:GQ:PL 0/1:19,11:30:99:322,0,624
2 202672143 rs3214362 G GA 555.94 PASS AB=0.698;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.279;DB;DP=44;FS=0.0;HRun=6;HaplotypeScore=108.7421;IndelType=I;MQ=60.22;MQ0=0;MQRankSum=1.598;QD=12.63;ReadPosRankSum=0.65;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CDK15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260967 GT:AD:DP:GQ:PL 0/1:25,19:44:99:595,0,517
2 202688190 rs6435109 A G 91.49 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CDK15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260967 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:124,9,0
2 202688293 rs4675229 A G 552.16 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.51;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CDK15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260967 GT:AD:DP:GQ:PL 1/1:0,16:16:45.14:585,45,0
2 202712095 rs917958 A C 1765.67 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.03;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CDK15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260967 GT:AD:DP:GQ:PL 1/1:0,49:49:99:1799,132,0
2 202939654 rs10221698 T C 3087.47 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.753;DB;DP=100;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.5781;MQ=60.0;MQ0=0;MQRankSum=1.554;QD=30.87;ReadPosRankSum=0.709;SNPEFF_AMINO_ACID_CHANGE=V42A;SNPEFF_CODON_CHANGE=gTc/gCc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_202939614_202939898;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC079354.1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000295844 GT:AD:DP:GQ:PL 1/1:2,98:100:99:3120,195,0
2 202955454 rs1568535 G C 586.09 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.71;MQ0=0;QD=32.56;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC079354.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295844 GT:AD:DP:GQ:PL 1/1:0,18:18:48.15:619,48,0
2 202964380 rs2882486 G A 504.02 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=0.632;DB;DP=48;Dels=0.0;FS=1.113;HRun=1;HaplotypeScore=0.0;MQ=59.03;MQ0=0;MQRankSum=-0.587;QD=10.5;ReadPosRankSum=-0.632;SNPEFF_AMINO_ACID_CHANGE=E291;SNPEFF_CODON_CHANGE=gaG/gaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_202964336_202964519;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC079354.1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000541917 GT:AD:DP:GQ:PL 0/1:27,21:48:99:534,0,809
2 202964517 rs10197514 G C 232.89 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=0.424;DB;DP=21;Dels=0.0;FS=4.887;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=2.816;QD=11.09;ReadPosRankSum=1.967;SNPEFF_AMINO_ACID_CHANGE=S337T;SNPEFF_CODON_CHANGE=aGc/aCc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_202964336_202964519;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC079354.1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000541917 GT:AD:DP:GQ:PL 0/1:12,9:21:99:263,0,361
2 202964528 rs2350722 T C 257.93 PASS AB=0.412;AC=1;AF=0.50;AN=2;BaseQRankSum=2.001;DB;DP=17;Dels=0.0;FS=5.129;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.244;QD=15.17;ReadPosRankSum=-1.903;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC079354.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295844 GT:AD:DP:GQ:PL 0/1:7,10:17:99:288,0,201
2 202964986 rs6755174 C A 381.47 PASS AB=0.37;AC=1;AF=0.50;AN=2;BaseQRankSum=0.162;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.14;MQ0=0;MQRankSum=-0.377;QD=14.13;ReadPosRankSum=0.216;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC079354.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295844 GT:AD:DP:GQ:PL 0/1:10,17:27:99:411,0,251
2 202965222 rs6726731 A G 64.99 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.231;QD=13.0;ReadPosRankSum=0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC079354.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295844 GT:AD:DP:GQ:PL 0/1:2,3:5:67.94:95,0,68
2 202979615 . T TTGAA 1471.63 PASS AB=0.725;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.961;DP=58;FS=4.376;HRun=0;HaplotypeScore=231.6671;IndelType=I;MQ=60.12;MQ0=0;MQRankSum=-0.556;QD=25.37;ReadPosRankSum=-1.237;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC079354.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295844 GT:AD:DP:GQ:PL 0/1:36,20:58:99:1511,0,938
2 203029951 rs7582695 T A 159.32 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.86;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC079354.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000498697 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:192,15,0
2 203051886 rs6722588 C T 495.97 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.06;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC079354.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000498697 GT:AD:DP:GQ:PL 1/1:0,15:15:42.12:529,42,0
2 203052947 rs35468542 G A 536.26 PASS AB=0.486;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.271;DB;DP=35;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.578;QD=15.32;ReadPosRankSum=-1.436;SNPEFF_AMINO_ACID_CHANGE=E400K;SNPEFF_CODON_CHANGE=Gag/Aag;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_203052875_203052989;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC079354.1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000498697 GT:AD:DP:GQ:PL 0/1:17,18:35:99:566,0,534
2 203058861 rs34823131 A G 109.46 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.306;DB;DP=15;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.551;QD=7.3;ReadPosRankSum=1.898;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC079354.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000498697 GT:AD:DP:GQ:PL 0/1:10,5:15:99:139,0,369
2 203066048 rs12693962 G T 160.16 PASS AB=0.385;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.978;DB;DP=13;Dels=0.0;FS=6.64;HRun=1;HaplotypeScore=0.9958;MQ=58.2;MQ0=0;MQRankSum=0.212;QD=12.32;ReadPosRankSum=-2.927;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC079354.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469462 GT:AD:DP:GQ:PL 0/1:5,8:13:99:190,0,174
2 203066050 rs12693963 G C 205.05 PASS AB=0.357;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.133;DB;DP=14;Dels=0.0;FS=10.227;HRun=0;HaplotypeScore=0.9958;MQ=58.33;MQ0=0;MQRankSum=-1.867;QD=14.65;ReadPosRankSum=-3.067;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC079354.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469462 GT:AD:DP:GQ:PL 0/1:5,9:14:99:235,0,173
2 203066286 rs4673234 G T 1485.56 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.8757;MQ=51.3;MQ0=0;QD=30.95;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC079354.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469462 GT:AD:DP:GQ:PL 1/1:0,47:48:99:1519,117,0
2 203079307 rs3769817 T C 731.47 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.83;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SUMO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392244 GT:AD:DP:GQ:PL 1/1:0,21:21:60.18:764,60,0
2 203130632 rs148667174 G C 390.28 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=1.88;DB;DP=34;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.32;MQ0=0;MQRankSum=-0.776;QD=11.48;ReadPosRankSum=0.604;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOP58;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467734 GT:AD:DP:GQ:PL 0/1:16,18:34:99:420,0,501
2 203139738 rs11397579 A AC 273.01 PASS AC=2;AF=1.00;AN=2;DB;DP=8;FS=0.0;HRun=1;HaplotypeScore=14.7955;IndelType=I;MQ=60.0;MQ0=0;QD=34.13;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOP58;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264279 GT:AD:DP:GQ:PL 1/1:1,7:8:21.07:315,21,0
2 203152355 rs7572505 G A 433.56 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.25;DB;DP=36;Dels=0.0;FS=6.235;HRun=0;HaplotypeScore=0.9469;MQ=59.36;MQ0=0;MQRankSum=-0.283;QD=12.04;ReadPosRankSum=-1.017;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOP58;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426814 GT:AD:DP:GQ:PL 0/1:20,16:36:99:464,0,614
2 203155015 rs11310035 GT G 431.93 PASS AB=0.686;AC=1;AF=0.50;AN=2;BaseQRankSum=3.427;DB;DP=35;FS=5.059;HRun=4;HaplotypeScore=85.243;IndelType=D;MQ=60.31;MQ0=0;MQRankSum=-1.606;QD=12.34;ReadPosRankSum=0.878;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOP58;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264279 GT:AD:DP:GQ:PL 0/1:19,16:35:99:471,0,693
2 203168173 rs1054446 C T 515.80 PASS AB=0.485;AC=1;AF=0.50;AN=2;BaseQRankSum=4.016;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.6439;MQ=60.0;MQ0=0;MQRankSum=0.27;QD=15.17;ReadPosRankSum=-1.459;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NOP58;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000433543 GT:AD:DP:GQ:PL 0/1:16,17:34:99:546,0,460
2 203378398 rs10714063 CT C 374.76 PASS AB=0.686;AC=1;AF=0.50;AN=2;BaseQRankSum=3.847;DB;DP=35;FS=3.128;HRun=6;HaplotypeScore=87.5949;IndelType=D;MQ=60.31;MQ0=0;MQRankSum=1.535;QD=10.71;ReadPosRankSum=0.742;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BMPR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374574 GT:AD:DP:GQ:PL 0/1:19,16:35:99:414,0,608
2 203378616 rs7575056 C T 360.10 PASS AB=0.313;AC=1;AF=0.50;AN=2;BaseQRankSum=0.906;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.359;QD=22.51;ReadPosRankSum=1.359;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BMPR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374574 GT:AD:DP:GQ:PL 0/1:5,11:16:99:390,0,154
2 203384776 rs11390605 C CTT 1095.90 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.481;DB;DP=50;FS=0.0;HRun=12;HaplotypeScore=291.3324;IndelType=I;MQ=55.0;MQ0=0;MQRankSum=-0.619;QD=21.49;ReadPosRankSum=0.135;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BMPR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000374574 GT:AD:DP:GQ:PL 1/1:5,25:50:73.63:1138,74,0
2 203630019 rs57454651 T G 97.09 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=1.652;DB;DP=9;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.361;QD=10.79;ReadPosRankSum=-1.159;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM117B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303116 GT:AD:DP:GQ:PL 0/1:4,5:9:99:127,0,108
2 203630102 . C CT 106.55 PASS AB=0.852;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.869;DP=46;FS=3.636;HRun=14;HaplotypeScore=220.5661;IndelType=I;MQ=57.97;MQ0=0;MQRankSum=0.349;QD=2.32;ReadPosRankSum=0.683;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM117B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303116 GT:AD:DP:GQ:PL 0/1:34,8:46:99:146,0,413
2 203661779 rs6704822 A G 376.23 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.62;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ICA1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358299 GT:AD:DP:GQ:PL 1/1:0,10:10:30.10:409,30,0
2 203679306 rs72932767 T C 81.65 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.358;QD=16.33;ReadPosRankSum=1.231;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ICA1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000494560 GT:AD:DP:GQ:PL 0/1:2,3:5:64.17:112,0,64
2 203682304 rs72932772 C G 244.97 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.417;DB;DP=24;Dels=0.0;FS=4.26;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.67;QD=10.21;ReadPosRankSum=-1.848;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ICA1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000412210 GT:AD:DP:GQ:PL 0/1:15,9:24:99:275,0,535
2 203686234 rs143506102 GTTTCC G 416.83 PASS AB=0.692;AC=1;AF=0.50;AN=2;BaseQRankSum=2.573;DB;DP=18;FS=0.0;HRun=0;HaplotypeScore=97.039;IndelType=D;MQ=57.39;MQ0=0;MQRankSum=-1.733;QD=23.16;ReadPosRankSum=0.368;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ICA1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000411681 GT:AD:DP:GQ:PL 0/1:10,8:18:99:456,0,691
2 203690387 rs1344959 G A 698.06 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.7262;MQ=60.0;MQ0=0;QD=30.35;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ICA1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000411681 GT:AD:DP:GQ:PL 1/1:0,22:23:57.18:731,57,0
2 203693559 rs4675296 C G 1239.25 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.16;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ICA1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421334 GT:AD:DP:GQ:PL 1/1:0,44:44:99:1272,99,0
2 203747340 rs187539575 T C 426.37 PASS AB=0.435;AC=1;AF=0.50;AN=2;BaseQRankSum=2.264;DB;DP=23;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9979;MQ=60.0;MQ0=0;MQRankSum=0.279;QD=18.54;ReadPosRankSum=-0.651;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463824 GT:AD:DP:GQ:PL 0/1:10,13:23:99:456,0,336
2 203747522 rs72934751 A G 776.51 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=2.724;DB;DP=55;Dels=0.0;FS=4.65;HRun=0;HaplotypeScore=1.9727;MQ=60.0;MQ0=0;MQRankSum=0.409;QD=14.12;ReadPosRankSum=0.322;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463824 GT:AD:DP:GQ:PL 0/1:30,24:55:99:806,0,1003
2 203765756 rs35212307 T C 340.38 PASS AB=0.389;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.449;DB;DP=18;Dels=0.0;FS=4.708;HRun=0;HaplotypeScore=0.734;MQ=58.96;MQ0=0;MQRankSum=0.543;QD=18.91;ReadPosRankSum=-0.272;SNPEFF_AMINO_ACID_CHANGE=I75V;SNPEFF_CODON_CHANGE=Atc/Gtc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_203765748_203765842;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR12;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000261015 GT:AD:DP:GQ:PL 0/1:7,11:18:99:370,0,231
2 203806724 rs75869289 C T 194.07 PASS AB=0.56;AC=1;AF=0.50;AN=2;BaseQRankSum=1.341;DB;DP=25;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=59.07;MQ0=0;MQRankSum=-0.52;QD=7.76;ReadPosRankSum=1.013;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALS2CR8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000430899 GT:AD:DP:GQ:PL 0/1:14,11:25:99:224,0,441
2 203817257 . A AT 596.04 PASS AB=0.698;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.86;DP=67;FS=1.105;HRun=12;HaplotypeScore=241.9917;IndelType=I;MQ=58.14;MQ0=0;MQRankSum=0.68;QD=8.9;ReadPosRankSum=-0.221;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALS2CR8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000320443 GT:AD:DP:GQ:PL 0/1:36,28:67:99:635,0,430
2 203818575 rs6709618 A G 44.02 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.01;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALS2CR8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000414857 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:75,6,0
2 203820275 rs3731695 T C 76.64 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.988;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=12.77;ReadPosRankSum=-1.537;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALS2CR8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000414857 GT:AD:DP:GQ:PL 0/1:3,3:6:99:107,0,108
2 203836507 rs72928608 G C 120.92 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.731;QD=24.18;ReadPosRankSum=-0.731;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALS2CR8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456821 GT:AD:DP:GQ:PL 0/1:1,4:5:24.96:151,0,25
2 203838961 rs72928610 T C 150.54 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=1.749;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.143;QD=13.69;ReadPosRankSum=-0.387;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALS2CR8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456821 GT:AD:DP:GQ:PL 0/1:5,6:11:99:181,0,168
2 203846817 rs72932557 A T 558.72 PASS AB=0.574;AC=1;AF=0.50;AN=2;BaseQRankSum=3.614;DB;DP=47;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9997;MQ=60.0;MQ0=0;MQRankSum=0.446;QD=11.89;ReadPosRankSum=-0.848;SNPEFF_AMINO_ACID_CHANGE=Y469F;SNPEFF_CODON_CHANGE=tAc/tTc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_203846795_203847164;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALS2CR8;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000414439 GT:AD:DP:GQ:PL 0/1:27,20:47:99:589,0,784
2 203848402 rs72932561 G A 364.40 PASS AB=0.564;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.168;DB;DP=39;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=59.41;MQ0=0;MQRankSum=-0.163;QD=9.34;ReadPosRankSum=-0.103;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALS2CR8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000414439 GT:AD:DP:GQ:PL 0/1:22,17:39:99:394,0,733
2 203880992 rs2351524 T C 202.29 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.0;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.689;QD=16.86;ReadPosRankSum=-1.309;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NBEAL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478884 GT:AD:DP:GQ:PL 0/1:5,7:12:99:232,0,171
2 203921270 rs4673241 A G 617.56 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.6;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NBEAL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340268 GT:AD:DP:GQ:PL 1/1:0,16:16:48.16:651,48,0
2 203933339 rs72934514 A G 36.83 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.72;QD=6.14;ReadPosRankSum=0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NBEAL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340268 GT:AD:DP:GQ:PL 0/1:4,2:6:66.82:67,0,141
2 203990789 rs72934556 T G 913.14 PASS AB=0.426;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.434;DB;DP=55;Dels=0.0;FS=1.141;HRun=1;HaplotypeScore=0.9789;MQ=59.66;MQ0=0;MQRankSum=-0.665;QD=16.6;ReadPosRankSum=-0.805;SNPEFF_AMINO_ACID_CHANGE=V957;SNPEFF_CODON_CHANGE=gtT/gtG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_203990683_203990816;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NBEAL1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000340268 GT:AD:DP:GQ:PL 0/1:23,31:55:99:943,0,720
2 203991818 rs6715331 T C 177.23 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.54;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NBEAL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340268 GT:AD:DP:GQ:PL 1/1:0,6:6:18.05:210,18,0
2 203995078 rs189753012 G A 2709.72 PASS AB=0.469;AC=1;AF=0.50;AN=2;BaseQRankSum=4.753;DB;DP=175;Dels=0.0;FS=4.571;HRun=0;HaplotypeScore=0.6651;MQ=59.74;MQ0=0;MQRankSum=0.919;QD=15.48;ReadPosRankSum=-0.869;SNPEFF_AMINO_ACID_CHANGE=R1119H;SNPEFF_CODON_CHANGE=cGt/cAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_203995041_203995199;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NBEAL1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000340268 GT:AD:DP:GQ:PL 0/1:82,93:175:99:2740,0,2285
2 203996870 rs6748898 A G 2193.03 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.38;MQ0=0;QD=32.73;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NBEAL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340268 GT:AD:DP:GQ:PL 1/1:0,67:67:99:2226,163,0
2 204002809 rs10180815 A C 466.34 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.86;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NBEAL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340268 GT:AD:DP:GQ:PL 1/1:0,12:12:36.12:499,36,0
2 204031137 rs72934601 G A 72.88 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.731;QD=14.58;ReadPosRankSum=-0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NBEAL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340268 GT:AD:DP:GQ:PL 0/1:1,4:5:30.97:103,0,31
2 204036545 rs11452833 C CT 75.17 PASS AC=2;AF=1.00;AN=2;DB;DP=7;FS=0.0;HRun=14;HaplotypeScore=64.1127;IndelType=I;MQ=49.17;MQ0=0;QD=10.74;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NBEAL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340268 GT:AD:DP:GQ:PL 1/1:1,6:7:14.68:117,15,0
2 204054834 rs62182253 G A 116.84 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=49.96;MQ0=0;QD=23.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NBEAL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340268 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:149,12,0
2 204055916 . T A 238.98 PASS AB=0.769;AC=1;AF=0.50;AN=2;BaseQRankSum=1.667;DP=104;Dels=0.0;FS=1.03;HRun=0;HaplotypeScore=1.5661;MQ=45.55;MQ0=14;MQRankSum=-3.289;QD=2.3;ReadPosRankSum=3.279;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NBEAL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340268 GT:AD:DP:GQ:PL 0/1:80,24:104:99:269,0,2041
2 204062061 rs4675323 A G 2540.31 PASS AC=2;AF=1.00;AN=2;DB;DP=76;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.43;SNPEFF_AMINO_ACID_CHANGE=I2330V;SNPEFF_CODON_CHANGE=Atc/Gtc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_204062025_204062114;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NBEAL1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000449802 GT:AD:DP:GQ:PL 1/1:0,76:76:99:2573,202,0
2 204067268 rs2060388 A G 214.18 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.7;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NBEAL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340268 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:247,18,0
2 204090887 rs2351773 C G 1969.10 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.95;MQ0=0;QD=33.95;SNPEFF_EFFECT=INTRAGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NBEAL1;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 1/1:0,58:58:99:2002,147,0
2 204111394 rs13015873 T C 813.90 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=44.62;MQ0=0;QD=33.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYP20A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356079 GT:AD:DP:GQ:PL 1/1:0,24:24:69.21:847,69,0
2 204111398 rs10586509 GTTAA G 1174.23 PASS AC=2;AF=1.00;AN=2;DB;DP=22;FS=0.0;HRun=0;HaplotypeScore=247.385;IndelType=D;MQ=42.94;MQ0=0;QD=53.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYP20A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356079 GT:AD:DP:GQ:PL 1/1:0,22:22:63.22:1216,63,0
2 204111443 rs6435176 A G 1671.50 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.6281;MQ=51.19;MQ0=0;QD=31.54;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYP20A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356079 GT:AD:DP:GQ:PL 1/1:0,53:53:99:1705,135,0
2 204111705 rs6751894 T C 1186.15 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.81;MQ0=0;QD=30.41;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYP20A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356079 GT:AD:DP:GQ:PL 1/1:0,39:39:99:1219,105,0
2 204116660 rs3731694 A T 398.39 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.145;DB;DP=40;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.564;QD=9.96;ReadPosRankSum=0.67;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYP20A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356079 GT:AD:DP:GQ:PL 0/1:25,15:40:99:428,0,775
2 204116690 rs2043449 C T 1633.30 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.49;MQ0=0;QD=36.3;SNPEFF_AMINO_ACID_CHANGE=S97L;SNPEFF_CODON_CHANGE=tCg/tTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_204116690_204116832;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYP20A1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000356079 GT:AD:DP:GQ:PL 1/1:0,45:45:99:1666,123,0
2 204116887 rs2351771 T G 568.55 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.71;MQ0=0;QD=31.59;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYP20A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356079 GT:AD:DP:GQ:PL 1/1:0,18:18:48.15:602,48,0
2 204143126 rs2043444 T C 210.02 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=1.2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.66;QD=16.16;ReadPosRankSum=0.101;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYP20A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356079 GT:AD:DP:GQ:PL 0/1:6,7:13:99:240,0,210
2 204154325 rs7593677 G A 87.29 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.82;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYP20A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443941 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:119,9,0
2 204154552 rs1048013 C T 544.17 PASS AB=0.582;AC=1;AF=0.50;AN=2;BaseQRankSum=0.043;DB;DP=55;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.247;QD=9.89;ReadPosRankSum=0.196;SNPEFF_AMINO_ACID_CHANGE=L319F;SNPEFF_CODON_CHANGE=Ctt/Ttt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_204154488_204154599;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYP20A1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000421618 GT:AD:DP:GQ:PL 0/1:32,23:55:99:574,0,1003
2 204154677 rs114407963 A T 277.71 PASS AB=0.214;AC=1;AF=0.50;AN=2;BaseQRankSum=2.113;DB;DP=14;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.944;QD=19.84;ReadPosRankSum=0.254;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYP20A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443941 GT:AD:DP:GQ:PL 0/1:3,11:14:80.43:308,0,80
2 204154686 rs10170454 A G 215.93 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.99;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYP20A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443941 GT:AD:DP:GQ:PL 1/1:0,8:8:18.06:249,18,0
2 204157238 rs6727994 A G 88.09 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.02;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYP20A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356079 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:120,9,0
2 204246818 . CTTTTTTT C 435.49 PASS AB=0.696;AC=1;AF=0.50;AN=2;BaseQRankSum=3.281;DP=16;FS=0.0;HRun=7;HaplotypeScore=107.3211;IndelType=D;MQ=53.85;MQ0=0;MQRankSum=-1.482;QD=27.22;ReadPosRankSum=0.106;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000431886 GT:AD:DP:GQ:PL 0/1:9,7:16:99:475,0,946
2 204261723 rs3731652 G C 557.45 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.63;MQ0=0;QD=32.79;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000261016 GT:AD:DP:GQ:PL 1/1:0,17:17:45.12:590,45,0
2 204305093 rs3814365 T C 349.39 PASS AB=0.531;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.211;DB;DP=32;Dels=0.0;FS=3.637;HRun=0;HaplotypeScore=0.0;MQ=58.55;MQ0=0;MQRankSum=0.496;QD=10.92;ReadPosRankSum=-0.853;SNPEFF_AMINO_ACID_CHANGE=P940;SNPEFF_CODON_CHANGE=ccA/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_204298405_204306136;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RAPH1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000319170 GT:AD:DP:GQ:PL 0/1:17,15:32:99:379,0,474
2 204322298 rs2469953 T C 1193.09 PASS AB=0.513;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.456;DB;DP=113;Dels=0.0;FS=4.629;HRun=1;HaplotypeScore=0.0;MQ=59.67;MQ0=0;MQRankSum=-1.56;QD=10.56;ReadPosRankSum=-0.537;SNPEFF_AMINO_ACID_CHANGE=K371;SNPEFF_CODON_CHANGE=aaA/aaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_204322253_204322318;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RAPH1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000319170 GT:AD:DP:GQ:PL 0/1:58,55:113:99:1223,0,1643
2 204594058 rs3181109 C G 49.99 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=49.84;MQ0=0;QD=25.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD28;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000324106 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
2 204629421 rs1974996 C T 755.72 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.89;MQ0=0;QD=35.99;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AC125238.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000390147 GT:AD:DP:GQ:PL 1/1:0,21:21:57.19:789,57,0
2 204732714 rs231775 A G 459.44 PASS AB=0.513;AC=1;AF=0.50;AN=2;BaseQRankSum=2.47;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.278;QD=11.78;ReadPosRankSum=-1.242;SNPEFF_AMINO_ACID_CHANGE=T17A;SNPEFF_CODON_CHANGE=Acc/Gcc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_204732666_204732774;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CTLA4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000295854 GT:AD:DP:GQ:PL 0/1:20,19:39:99:489,0,551
2 204732850 rs231776 A G 258.37 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.71;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CTLA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295854 GT:AD:DP:GQ:PL 1/1:0,9:9:24.07:291,24,0
2 204824283 rs10172036 T G 398.04 PASS AB=0.458;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.29;DB;DP=24;Dels=0.0;FS=4.471;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.738;QD=16.58;ReadPosRankSum=0.348;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ICOS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000316386 GT:AD:DP:GQ:PL 0/1:11,13:24:99:428,0,308
2 205829991 rs236843 C T 865.44 PASS AB=0.473;AC=1;AF=0.50;AN=2;BaseQRankSum=3.582;DB;DP=55;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.037;QD=15.74;ReadPosRankSum=-0.312;SNPEFF_AMINO_ACID_CHANGE=A113;SNPEFF_CODON_CHANGE=gcC/gcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_205829875_205830046;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PARD3B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000349953 GT:AD:DP:GQ:PL 0/1:26,29:55:99:895,0,770
2 205969023 rs2289024 A C 367.74 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.43;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PARD3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000349953 GT:AD:DP:GQ:PL 1/1:0,11:11:33.09:401,33,0
2 205969220 rs2289025 G A 703.03 PASS AB=0.647;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.285;DB;DP=85;Dels=0.0;FS=2.083;HRun=2;HaplotypeScore=1.7552;MQ=59.01;MQ0=0;MQRankSum=-1.779;QD=8.27;ReadPosRankSum=-1.43;SNPEFF_AMINO_ACID_CHANGE=R192K;SNPEFF_CODON_CHANGE=aGa/aAa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_205969150_205969238;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PARD3B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000349953 GT:AD:DP:GQ:PL 0/1:55,30:85:99:733,0,1850
2 205986321 rs2289023 A G 792 PASS AB=0.517;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.109;DB;DP=60;Dels=0.0;FS=9.307;HRun=1;HaplotypeScore=1.8237;MQ=60.0;MQ0=0;MQRankSum=0.192;QD=13.2;ReadPosRankSum=-0.355;SNPEFF_AMINO_ACID_CHANGE=Q271;SNPEFF_CODON_CHANGE=caA/caG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_205986315_205986673;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PARD3B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000349953 GT:AD:DP:GQ:PL 0/1:31,29:60:99:822,0,985
2 206036918 rs736320 C T 464.54 PASS AB=0.558;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.289;DB;DP=43;Dels=0.0;FS=1.684;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.55;QD=10.8;ReadPosRankSum=-0.477;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PARD3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000349953 GT:AD:DP:GQ:PL 0/1:24,19:43:99:495,0,781
2 206050355 rs62172732 A G 252.28 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.04;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PARD3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000349953 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:285,21,0
2 206364487 rs11687914 T C 738.95 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.59;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PARD3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000349953 GT:AD:DP:GQ:PL 1/1:0,22:22:60.19:772,60,0
2 206364791 rs11683289 C G 2121.74 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.674;DB;DP=59;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=59.29;MQ0=0;MQRankSum=0.323;QD=35.96;ReadPosRankSum=-1.263;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PARD3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000349953 GT:AD:DP:GQ:PL 1/1:1,58:59:99:2155,126,0
2 206418032 rs6730102 G A 1393.06 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9926;MQ=59.56;MQ0=0;QD=33.17;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PARD3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000349953 GT:AD:DP:GQ:PL 1/1:0,42:42:99:1426,105,0
2 206562250 rs849558 C T 8705.15 PASS AC=2;AF=1.00;AN=2;DB;DP=248;DS;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.81;MQ0=0;QD=35.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NRP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272849 GT:AD:DP:GQ:PL 1/1:0,248:248:99:8705,662,0
2 206565500 rs3771051 C T 388.89 PASS AB=0.517;AC=1;AF=0.50;AN=2;BaseQRankSum=1.506;DB;DP=29;Dels=0.0;FS=7.732;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=1.113;QD=13.41;ReadPosRankSum=-0.153;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NRP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478013 GT:AD:DP:GQ:PL 0/1:15,14:29:99:419,0,515
2 206581033 rs849541 G A 2482.79 PASS AC=2;AF=1.00;AN=2;DB;DP=76;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9947;MQ=60.0;MQ0=0;QD=32.67;SNPEFF_AMINO_ACID_CHANGE=R123K;SNPEFF_CODON_CHANGE=aGg/aAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_206580917_206581098;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NRP2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000272849 GT:AD:DP:GQ:PL 1/1:0,75:76:99:2516,193,0
2 206590879 rs73064192 C T 166.40 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.488;DB;DP=16;Dels=0.0;FS=4.26;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.356;QD=10.4;ReadPosRankSum=1.356;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NRP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477199 GT:AD:DP:GQ:PL 0/1:10,6:16:99:196,0,363
2 206592534 rs2241157 T C 334.29 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.14;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NRP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477199 GT:AD:DP:GQ:PL 1/1:0,9:9:27.08:367,27,0
2 206605180 rs849575 T G 662.10 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.53;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NRP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272849 GT:AD:DP:GQ:PL 1/1:0,21:21:60.14:695,60,0
2 206605223 rs77781102 T C 472.61 PASS AB=0.535;AC=1;AF=0.50;AN=2;BaseQRankSum=1.775;DB;DP=43;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.6553;MQ=60.0;MQ0=0;MQRankSum=0.516;QD=10.99;ReadPosRankSum=0.214;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NRP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272849 GT:AD:DP:GQ:PL 0/1:23,20:43:99:503,0,669
2 206608039 rs849568 T C 4190.82 PASS AC=2;AF=1.00;AN=2;DB;DP=127;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.5655;MQ=59.27;MQ0=0;QD=33.0;SNPEFF_AMINO_ACID_CHANGE=V468;SNPEFF_CODON_CHANGE=gtT/gtC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_206607927_206608276;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NRP2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000272849 GT:AD:DP:GQ:PL 1/1:0,127:127:99:4191,334,0
2 206610502 rs849563 T G 79.79 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.6;SNPEFF_AMINO_ACID_CHANGE=P558;SNPEFF_CODON_CHANGE=ccT/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_206610470_206610614;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NRP2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000272849 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:112,9,0
2 206614646 rs10932123 T G 65.20 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=0.729;DB;DP=9;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.159;QD=7.24;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NRP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272849 GT:AD:DP:GQ:PL 0/1:5,4:9:95.20:95,0,178
2 206630073 rs35659576 A AAC 309.12 PASS AB=0.652;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.359;DB;DP=15;FS=0.0;HRun=0;HaplotypeScore=42.042;IndelType=I;MQ=56.85;MQ0=0;MQRankSum=-0.289;QD=20.61;ReadPosRankSum=1.134;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NRP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460987 GT:AD:DP:GQ:PL 0/1:7,8:15:99:348,0,108
2 206631601 rs151261485 TG T 305.70 PASS AB=0.745;AC=1;AF=0.50;AN=2;BaseQRankSum=3.216;DB;DP=41;FS=2.96;HRun=6;HaplotypeScore=105.0503;IndelType=D;MQ=60.26;MQ0=0;MQRankSum=-0.253;QD=7.46;ReadPosRankSum=-0.657;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NRP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460987 GT:AD:DP:GQ:PL 0/1:27,14:41:99:345,0,723
2 206884595 rs71410855 AT A 2399.74 PASS AC=2;AF=1.00;AN=2;DB;DP=99;FS=0.0;HRun=9;HaplotypeScore=261.9174;IndelType=D;MQ=60.67;MQ0=0;QD=24.24;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INO80D;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233270 GT:AD:DP:GQ:PL 1/1:10,89:99:99:2442,267,0
2 206884792 rs817998 G C 220.74 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.59;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INO80D;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233270 GT:AD:DP:GQ:PL 1/1:0,8:8:21.06:254,21,0
2 206911191 rs34828561 C CA 1642.56 PASS AC=2;AF=1.00;AN=2;DB;DP=61;FS=0.0;HRun=10;HaplotypeScore=160.0594;IndelType=I;MQ=61.19;MQ0=0;QD=26.93;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INO80D;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233270 GT:AD:DP:GQ:PL 1/1:7,53:61:99:1685,159,0
2 206911349 . G A 1493.30 PASS AB=0.46;AC=1;AF=0.50;AN=2;BaseQRankSum=0.004;DP=100;Dels=0.0;FS=3.618;HRun=1;HaplotypeScore=0.8667;MQ=59.77;MQ0=0;MQRankSum=1.191;QD=14.93;ReadPosRankSum=-0.207;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INO80D;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233270 GT:AD:DP:GQ:PL 0/1:46,54:100:99:1523,0,1462
2 206921451 rs818009 G A 2397.99 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9783;MQ=60.0;MQ0=0;QD=35.26;SNPEFF_AMINO_ACID_CHANGE=T145;SNPEFF_CODON_CHANGE=acC/acT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_206920922_206921667;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INO80D;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000233270 GT:AD:DP:GQ:PL 1/1:0,68:68:99:2431,178,0
2 206921763 rs17220727 C T 178.76 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=3.016;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.33;MQ0=0;MQRankSum=0.101;QD=12.77;ReadPosRankSum=0.101;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INO80D;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233270 GT:AD:DP:GQ:PL 0/1:7,7:14:99:209,0,210
2 206927850 rs17286674 G A 678.68 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INO80D;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233270 GT:AD:DP:GQ:PL 1/1:0,19:19:57.15:712,57,0
2 206989170 rs2045858 C A 49.41 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.7;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NDUFS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000498520 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
2 206992371 rs4147726 G A 324.60 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NDUFS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233190 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:358,27,0
2 206995010 rs4147725 A G 308.97 PASS AB=0.586;AC=1;AF=0.50;AN=2;BaseQRankSum=2.103;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.705;QD=10.65;ReadPosRankSum=0.376;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NDUFS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233190 GT:AD:DP:GQ:PL 0/1:17,12:29:99:339,0,533
2 207003438 rs4147729 TA T 217.97 PASS AB=0.579;AC=1;AF=0.50;AN=2;BaseQRankSum=0.751;DB;DP=11;FS=0.0;HRun=4;HaplotypeScore=25.6958;IndelType=D;MQ=60.98;MQ0=0;MQRankSum=0.751;QD=19.82;ReadPosRankSum=0.751;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NDUFS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233190 GT:AD:DP:GQ:PL 0/1:3,8:11:14.95:257,0,15
2 207006676 rs1801318 T C 370.66 PASS AB=0.659;AC=1;AF=0.50;AN=2;BaseQRankSum=0.894;DB;DP=41;Dels=0.0;FS=1.435;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.168;QD=9.04;ReadPosRankSum=0.371;SNPEFF_AMINO_ACID_CHANGE=R301;SNPEFF_CODON_CHANGE=agA/agG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_207006665_207006793;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NDUFS1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000457011 GT:AD:DP:GQ:PL 0/1:27,14:41:99:401,0,853
2 207006825 rs4147718 C A 930.81 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.8;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NDUFS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233190 GT:AD:DP:GQ:PL 1/1:0,26:26:72.23:964,72,0
2 207008554 rs140829024 G A 31.41 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=0.198;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.198;QD=4.49;ReadPosRankSum=0.922;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NDUFS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000454195 GT:AD:DP:GQ:PL 0/1:5,2:7:61.40:61,0,173
2 207008675 rs35409448 C CT 2130.48 PASS AC=2;AF=1.00;AN=2;DB;DP=49;FS=0.0;HRun=0;HaplotypeScore=131.8102;IndelType=I;MQ=61.53;MQ0=0;QD=43.48;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NDUFS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000454195 GT:AD:DP:GQ:PL 1/1:0,49:49:99:2173,147,0
2 207008763 rs1127566 C A 3847.42 PASS AC=2;AF=1.00;AN=2;DB;DP=115;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.56;MQ0=0;QD=33.46;SNPEFF_AMINO_ACID_CHANGE=A206;SNPEFF_CODON_CHANGE=gcG/gcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_207008742_207008856;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NDUFS1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000457011 GT:AD:DP:GQ:PL 1/1:0,115:115:99:3847,277,0
2 207024886 rs113729178 G GC 374.12 PASS AC=2;AF=1.00;AN=2;DB;DP=12;FS=0.0;HRun=3;HaplotypeScore=24.7248;IndelType=I;MQ=63.24;MQ0=0;QD=31.18;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EEF1B2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236957 GT:AD:DP:GQ:PL 1/1:1,11:12:33.07:416,33,0
2 207025444 rs11689362 T C 1413.91 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.49;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EEF1B2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236957 GT:AD:DP:GQ:PL 1/1:0,41:41:99:1447,105,0
2 207026471 rs3755229 C T 141.53 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.21;MQ0=0;QD=28.31;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EEF1B2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000415904 GT:AD:DP:GQ:PL 1/1:0,5:5:15.04:174,15,0
2 207026491 rs3755228 C T 134.35 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.495;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9983;MQ=49.17;MQ0=0;MQRankSum=0.198;QD=19.19;ReadPosRankSum=1.495;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EEF1B2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000415904 GT:AD:DP:GQ:PL 1/1:2,5:7:15.04:167,15,0
2 207027407 rs35430253 C CT 3344.78 PASS AC=2;AF=1.00;AN=2;DB;DP=72;FS=0.0;HRun=3;HaplotypeScore=180.194;IndelType=I;MQ=56.03;MQ0=0;QD=46.46;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EEF1B2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000415904 GT:AD:DP:GQ:PL 1/1:2,70:72:99:3345,211,0
2 207040777 rs112540540 T C 40.96 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.026;QD=10.24;ReadPosRankSum=1.026;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000411719 GT:AD:DP:GQ:PL 0/1:2,2:4:65.85:71,0,66
2 207041053 rs3732083 T C 2378.66 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.65;MQ0=0;QD=36.04;SNPEFF_AMINO_ACID_CHANGE=I307V;SNPEFF_CODON_CHANGE=Att/Gtt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_207040040_207041999;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000407325 GT:AD:DP:GQ:PL 1/1:0,66:66:99:2412,181,0
2 207041441 rs3732082 G A 594.30 PASS AB=0.475;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.135;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9973;MQ=60.0;MQ0=0;MQRankSum=-0.731;QD=14.86;ReadPosRankSum=-0.731;SNPEFF_AMINO_ACID_CHANGE=D177;SNPEFF_CODON_CHANGE=gaC/gaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_207040040_207041999;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000407325 GT:AD:DP:GQ:PL 0/1:19,21:40:99:624,0,575
2 207041933 rs3755227 T C 1860.97 PASS AB=0.436;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.206;DB;DP=117;Dels=0.0;FS=13.352;HRun=0;HaplotypeScore=3.4975;MQ=59.84;MQ0=0;MQRankSum=0.124;QD=15.91;ReadPosRankSum=0.69;SNPEFF_AMINO_ACID_CHANGE=E13;SNPEFF_CODON_CHANGE=gaA/gaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_207040040_207041999;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000407325 GT:AD:DP:GQ:PL 0/1:51,66:117:99:1891,0,1747
2 207169731 rs10932150 G A 3985.82 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.615;DB;DP=127;Dels=0.0;FS=4.051;HRun=4;HaplotypeScore=2.5747;MQ=59.52;MQ0=0;MQRankSum=-0.459;QD=31.38;ReadPosRankSum=1.474;SNPEFF_AMINO_ACID_CHANGE=R160K;SNPEFF_CODON_CHANGE=aGa/aAa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_207169441_207179148;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZDBF2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000374423 GT:AD:DP:GQ:PL 1/1:2,124:127:99:3986,283,0
2 207172627 rs7582864 A G 5140.94 PASS AC=2;AF=1.00;AN=2;DB;DP=148;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=59.84;MQ0=0;QD=34.74;SNPEFF_AMINO_ACID_CHANGE=Q1125;SNPEFF_CODON_CHANGE=caA/caG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_207169441_207179148;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZDBF2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000374423 GT:AD:DP:GQ:PL 1/1:0,148:148:99:5141,373,0
2 207174316 rs3732084 T C 4860.45 PASS AC=2;AF=1.00;AN=2;DB;DP=137;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8667;MQ=59.83;MQ0=0;QD=35.48;SNPEFF_AMINO_ACID_CHANGE=S1688;SNPEFF_CODON_CHANGE=agT/agC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_207169441_207179148;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZDBF2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000374423 GT:AD:DP:GQ:PL 1/1:0,137:137:99:4860,367,0
2 207345826 rs3213811 G A 103.68 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.937;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.55;QD=14.81;ReadPosRankSum=0.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADAM23;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264377 GT:AD:DP:GQ:PL 0/1:3,4:7:99:134,0,102
2 207452151 rs11330184 GT G 159.84 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=4.133;DB;DP=30;FS=0.0;HRun=9;HaplotypeScore=68.2979;IndelType=D;MQ=61.07;MQ0=0;MQRankSum=1.692;QD=5.33;ReadPosRankSum=-0.083;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADAM23;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264377 GT:AD:DP:GQ:PL 0/1:20,10:30:99:199,0,432
2 207557965 rs114709725 G A 1007 PASS AB=0.608;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.861;DB;DP=102;Dels=0.0;FS=3.162;HRun=0;HaplotypeScore=0.9734;MQ=59.77;MQ0=0;MQRankSum=1.266;QD=9.87;ReadPosRankSum=0.017;SNPEFF_AMINO_ACID_CHANGE=A305V;SNPEFF_CODON_CHANGE=gCa/gTa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_207557899_207558047;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DYTN;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000452335 GT:AD:DP:GQ:PL 0/1:62,40:102:99:1037,0,1981
2 207572341 rs16838641 T G 72.61 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.406;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.988;QD=12.1;ReadPosRankSum=-0.988;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DYTN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000452335 GT:AD:DP:GQ:PL 0/1:3,3:6:99:103,0,102
2 207572396 rs10490747 C A 37.36 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=7.47;ReadPosRankSum=0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DYTN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000452335 GT:AD:DP:GQ:PL 0/1:3,2:5:67.36:67,0,110
2 207621759 rs1990849 A G 1093.44 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9899;MQ=59.3;MQ0=0;QD=33.13;SNPEFF_AMINO_ACID_CHANGE=Y92;SNPEFF_CODON_CHANGE=taT/taC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_207621622_207621764;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MDH1B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000374412 GT:AD:DP:GQ:PL 1/1:0,33:33:81.27:1126,81,0
2 207634958 rs41272659 G A 48.50 PASS AB=0.824;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.441;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=58.63;MQ0=0;MQRankSum=-0.819;QD=2.85;ReadPosRankSum=-1.323;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FASTKD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418289 GT:AD:DP:GQ:PL 0/1:14,3:17:78.49:78,0,442
2 207820276 rs13420911 G A 402.11 PASS AB=0.604;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.03;DB;DP=48;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9947;MQ=59.03;MQ0=0;MQRankSum=0.661;QD=8.38;ReadPosRankSum=-1.355;SNPEFF_AMINO_ACID_CHANGE=M85I;SNPEFF_CODON_CHANGE=atG/atA;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_207820187_207820288;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CPO;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000272852 GT:AD:DP:GQ:PL 0/1:29,19:48:99:432,0,892
2 207824384 rs11903403 T G 572.91 PASS AB=0.488;AC=1;AF=0.50;AN=2;BaseQRankSum=1.839;DB;DP=41;Dels=0.0;FS=1.242;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.952;QD=13.97;ReadPosRankSum=-0.3;SNPEFF_AMINO_ACID_CHANGE=S134R;SNPEFF_CODON_CHANGE=agT/agG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_207824355_207824465;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CPO;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000272852 GT:AD:DP:GQ:PL 0/1:20,21:41:99:603,0,653
2 207824548 rs1453168 G A 132.79 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.56;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CPO;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272852 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:165,12,0
2 207825656 rs13397039 A T 1156.53 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=3.942;DB;DP=91;Dels=0.0;FS=2.959;HRun=1;HaplotypeScore=0.9916;MQ=59.54;MQ0=0;MQRankSum=-0.782;QD=12.71;ReadPosRankSum=-1.223;SNPEFF_AMINO_ACID_CHANGE=A188;SNPEFF_CODON_CHANGE=gcA/gcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_207825576_207825666;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CPO;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000272852 GT:AD:DP:GQ:PL 0/1:52,39:91:99:1187,0,1522
2 207833848 rs7582092 A G 1548.81 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.52;MQ0=0;QD=32.27;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CPO;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272852 GT:AD:DP:GQ:PL 1/1:0,48:48:99:1582,126,0
2 207833983 rs7582305 A G 475.24 PASS AB=0.514;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.869;DB;DP=37;Dels=0.0;FS=2.884;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.198;QD=12.84;ReadPosRankSum=-0.046;SNPEFF_AMINO_ACID_CHANGE=T316;SNPEFF_CODON_CHANGE=acA/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_207833898_207834198;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CPO;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000272852 GT:AD:DP:GQ:PL 0/1:19,18:37:99:505,0,587
2 207945785 rs113821778 ATG A 99.89 PASS AB=0.83;AC=1;AF=0.50;AN=2;BaseQRankSum=2.638;DB;DP=39;FS=0.0;HRun=0;HaplotypeScore=184.082;IndelType=D;MQ=57.42;MQ0=0;MQRankSum=-0.64;QD=2.56;ReadPosRankSum=0.56;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KLF7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467833 GT:AD:DP:GQ:PL 0/1:31,8:39:99:139,0,1250
2 207946141 rs2287507 A G 89.67 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=1.256;DB;DP=13;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.271;QD=6.9;ReadPosRankSum=-0.437;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KLF7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309446 GT:AD:DP:GQ:PL 0/1:8,5:13:99:120,0,279
2 207946164 rs2287506 T C 35.61 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=7.12;ReadPosRankSum=0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KLF7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309446 GT:AD:DP:GQ:PL 0/1:3,2:5:65.60:66,0,103
2 207988613 rs2700166 C T 2462.23 PASS AC=2;AF=1.00;AN=2;DB;DP=80;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.07;MQ0=0;QD=30.78;SNPEFF_AMINO_ACID_CHANGE=L173;SNPEFF_CODON_CHANGE=ctG/ctA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_207988498_207989128;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KLF7;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000421199 GT:AD:DP:GQ:PL 1/1:0,80:80:99:2495,196,0
2 208031992 rs1269424 T A 124.38 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.1;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KLF7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309446 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:157,12,0
2 208174631 rs13411919 T C 525.34 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.55;MQ0=0;QD=32.83;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AC009226.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401123 GT:AD:DP:GQ:PL 1/1:0,16:16:42.14:558,42,0
2 208174754 rs4675662 G A 597.23 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.66;MQ0=0;QD=29.86;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=antisense;SNPEFF_GENE_NAME=AC007879.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000412387 GT:AD:DP:GQ:PL 1/1:1,19:20:51.14:630,51,0
2 208432346 rs3730276 A G 57.72 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=0.546;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.895;QD=5.77;ReadPosRankSum=-0.546;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CREB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000452474 GT:AD:DP:GQ:PL 0/1:7,3:10:87.71:88,0,256
2 208461621 rs141571316 TC T 580.46 PASS AB=0.718;AC=1;AF=0.50;AN=2;BaseQRankSum=3.812;DB;DP=51;FS=1.172;HRun=2;HaplotypeScore=135.411;IndelType=D;MQ=59.97;MQ0=0;MQRankSum=0.743;QD=11.38;ReadPosRankSum=0.446;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CREB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236996 GT:AD:DP:GQ:PL 0/1:31,20:51:99:619,0,1192
2 208477852 rs2551949 G A 3107.74 PASS AC=2;AF=1.00;AN=2;DB;DP=85;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;QD=36.56;SNPEFF_AMINO_ACID_CHANGE=T192I;SNPEFF_CODON_CHANGE=aCt/aTt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_208477467_208478167;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=METTL21A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000406927 GT:AD:DP:GQ:PL 1/1:0,85:85:99:3141,229,0
2 208477956 rs2709416 C T 2575.36 PASS AC=2;AF=1.00;AN=2;DB;DP=78;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.76;MQ0=0;QD=33.02;SNPEFF_AMINO_ACID_CHANGE=Q157;SNPEFF_CODON_CHANGE=caG/caA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_208477467_208478167;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=METTL21A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000406927 GT:AD:DP:GQ:PL 1/1:0,78:78:99:2608,193,0
2 208478055 rs17520056 A G 688.38 PASS AB=0.593;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.424;DB;DP=59;Dels=0.0;FS=3.853;HRun=1;HaplotypeScore=0.0;MQ=59.61;MQ0=0;MQRankSum=0.826;QD=11.67;ReadPosRankSum=-0.363;SNPEFF_AMINO_ACID_CHANGE=T124;SNPEFF_CODON_CHANGE=acT/acC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_208477467_208478167;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=METTL21A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000406927 GT:AD:DP:GQ:PL 0/1:35,24:59:99:718,0,1164
2 208489101 rs4234080 C A 554.60 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.725;DB;DP=48;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.309;QD=11.55;ReadPosRankSum=1.746;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=METTL21A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471128 GT:AD:DP:GQ:PL 0/1:27,21:48:99:585,0,804
2 208606875 rs71896412 CA C 55.75 PASS AB=0.686;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=23;FS=0.0;HRun=17;HaplotypeScore=153.2245;IndelType=D;MQ=51.67;MQ0=0;MQRankSum=-0.684;QD=2.32;ReadPosRankSum=0.608;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCNYL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295414 GT:AD:DP:GQ:PL 0/1:12,9:23:94.78:95,0,133
2 208633413 rs4675711 T C 148.07 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.04;MQ0=0;QD=24.68;SNPEFF_AMINO_ACID_CHANGE=L17;SNPEFF_CODON_CHANGE=ctA/ctG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_208627310_208633718;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FZD5;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000295417 GT:AD:DP:GQ:PL 1/1:0,6:6:15.04:181,15,0
2 208693261 rs720632 C G 162.11 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.032;DB;DP=24;Dels=0.0;FS=4.586;HRun=1;HaplotypeScore=1.7653;MQ=60.0;MQ0=0;MQRankSum=0.742;QD=6.75;ReadPosRankSum=-0.807;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEKHM3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427836 GT:AD:DP:GQ:PL 0/1:16,8:24:99:192,0,528
2 208693307 rs720631 T C 43.03 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.221;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.684;QD=5.38;ReadPosRankSum=0.322;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEKHM3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427836 GT:AD:DP:GQ:PL 0/1:5,3:8:73.02:73,0,165
2 208811097 rs10932215 C T 3287.66 PASS AC=2;AF=1.00;AN=2;DB;DP=97;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=59.57;MQ0=0;QD=33.89;SNPEFF_AMINO_ACID_CHANGE=K562;SNPEFF_CODON_CHANGE=aaG/aaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_208811091_208811236;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEKHM3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000389247 GT:AD:DP:GQ:PL 1/1:0,97:97:99:3288,247,0
2 208811284 rs10932216 C T 731.94 PASS AB=0.51;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.73;DB;DP=49;Dels=0.0;FS=1.544;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.59;QD=14.94;ReadPosRankSum=0.43;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEKHM3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389247 GT:AD:DP:GQ:PL 0/1:25,24:49:99:762,0,772
2 208841964 rs4441448 A G 1830.41 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.24;MQ0=0;QD=30.01;SNPEFF_AMINO_ACID_CHANGE=N319;SNPEFF_CODON_CHANGE=aaT/aaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_208841375_208842310;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEKHM3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000389247 GT:AD:DP:GQ:PL 1/1:0,61:61:99:1863,150,0
2 208842394 rs2044971 A G 526.83 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.93;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEKHM3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389247 GT:AD:DP:GQ:PL 1/1:0,16:16:45.13:560,45,0
2 208842881 rs144876886 ACGTGCAACATCAACGGAG A 2236.93 PASS AB=0.682;AC=1;AF=0.50;AN=2;BaseQRankSum=5.038;DB;DP=45;FS=4.247;HRun=0;HaplotypeScore=673.8314;IndelType=D;MQ=48.97;MQ0=0;MQRankSum=-2.984;QD=49.71;ReadPosRankSum=-0.353;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLEKHM3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389247 GT:AD:DP:GQ:PL 0/1:24,21:45:99:2276,0,3317
2 208976955 rs10932241 A C 181.66 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=47.15;MQ0=0;QD=25.95;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_unprocessed_pseudogene;SNPEFF_GENE_NAME=AC093698.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000412192 GT:AD:DP:GQ:PL 1/1:0,7:7:18.05:215,18,0
2 208977135 rs35960349 A G 149.33 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=36.78;MQ0=1;QD=24.89;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_unprocessed_pseudogene;SNPEFF_GENE_NAME=AC093698.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000412192 GT:AD:DP:GQ:PL 1/1:0,6:6:15.04:182,15,0
2 208977323 rs11679871 A G 240.46 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.83;MQ0=0;QD=26.72;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_unprocessed_pseudogene;SNPEFF_GENE_NAME=AC093698.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000412192 GT:AD:DP:GQ:PL 1/1:0,9:9:21.05:273,21,0
2 208977362 rs34126491 C A 125.94 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=49.88;MQ0=0;QD=25.19;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_unprocessed_pseudogene;SNPEFF_GENE_NAME=AC093698.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000412192 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:158,12,0
2 208977388 rs11679917 A G 131.04 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=42.72;MQ0=0;QD=26.21;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_unprocessed_pseudogene;SNPEFF_GENE_NAME=AC093698.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000412192 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:164,12,0
2 208977402 rs55999272 A G 49.30 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=44.04;MQ0=0;QD=12.33;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_unprocessed_pseudogene;SNPEFF_GENE_NAME=AC093698.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000412192 GT:AD:DP:GQ:PL 1/1:0,4:4:6.02:81,6,0
2 208986385 rs2305429 A G 1132.78 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.83;MQ0=0;QD=31.47;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRYGD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264376 GT:AD:DP:GQ:PL 1/1:0,36:36:93.28:1166,93,0
2 208986637 rs2305430 T C 3698.63 PASS AC=2;AF=1.00;AN=2;DB;DP=116;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.6;MQ0=0;QD=31.88;SNPEFF_AMINO_ACID_CHANGE=R95;SNPEFF_CODON_CHANGE=agA/agG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_208986331_208986669;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRYGD;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000264376 GT:AD:DP:GQ:PL 1/1:0,116:116:99:3699,274,0
2 208986839 rs1470826 A G 114.72 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.68;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRYGD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264376 GT:AD:DP:GQ:PL 1/1:0,4:4:12.02:147,12,0
2 208989037 rs2242074 A G 489.12 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=44.26;MQ0=0;QD=32.61;SNPEFF_AMINO_ACID_CHANGE=Y17;SNPEFF_CODON_CHANGE=taT/taC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_208988836_208989078;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRYGD;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000264376 GT:AD:DP:GQ:PL 1/1:0,15:15:42.12:522,42,0
2 208994697 rs2242071 C T 595.74 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.55;MQ0=0;QD=37.23;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRYGC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282141 GT:AD:DP:GQ:PL 1/1:0,16:16:48.16:629,48,0
2 209007559 rs796287 T G 4006.87 PASS AC=2;AF=1.00;AN=2;DB;DP=111;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9578;MQ=59.79;MQ0=0;QD=36.1;SNPEFF_AMINO_ACID_CHANGE=I111L;SNPEFF_CODON_CHANGE=Atc/Ctc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_209007297_209007637;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRYGB;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000260988 GT:AD:DP:GQ:PL 1/1:0,111:111:99:4007,295,0
2 209007786 rs1124651 A G 205.26 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.66;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRYGB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260988 GT:AD:DP:GQ:PL 1/1:0,8:8:18.06:238,18,0
2 209010558 rs2854723 A G 1724.70 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=56.18;MQ0=0;QD=28.27;SNPEFF_AMINO_ACID_CHANGE=P64;SNPEFF_CODON_CHANGE=ccT/ccC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_209010498_209010740;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRYGB;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000260988 GT:AD:DP:GQ:PL 1/1:0,61:61:99:1758,147,0
2 209010891 rs2289917 G A 538.97 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.94;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_2_209010836_209010892;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRYGB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260988 GT:AD:DP:GQ:PL 1/1:0,18:18:42.14:572,42,0
2 209030572 rs6721025 A G 1435.91 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.9;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf80;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341287 GT:AD:DP:GQ:PL 1/1:0,40:40:99:1469,108,0
2 209032933 rs12694099 A T 585.28 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.58;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf80;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000423952 GT:AD:DP:GQ:PL 1/1:0,16:16:48.16:618,48,0
2 209033138 rs7589065 C T 754.84 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.74;SNPEFF_AMINO_ACID_CHANGE=R104K;SNPEFF_CODON_CHANGE=aGg/aAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_209033106_209033219;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf80;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000451342 GT:AD:DP:GQ:PL 1/1:0,20:20:60.20:788,60,0
2 209033173 rs7562540 A G 377.04 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.71;MQ0=0;QD=37.7;SNPEFF_AMINO_ACID_CHANGE=S92;SNPEFF_CODON_CHANGE=tcT/tcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_209033106_209033219;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf80;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000451342 GT:AD:DP:GQ:PL 1/1:0,10:10:30.10:410,30,0
2 209035485 rs6435420 T G 91.96 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.65;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf80;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000423952 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:124,9,0
2 209035658 rs6748431 C T 2618.07 PASS AC=2;AF=1.00;AN=2;DB;DP=75;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8321;MQ=59.44;MQ0=0;QD=34.91;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf80;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000423952 GT:AD:DP:GQ:PL 1/1:0,75:75:99:2651,199,0
2 209035849 rs4292037 A C 830.76 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.8;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.133;QD=30.77;ReadPosRankSum=-1.6;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf80;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341287 GT:AD:DP:GQ:PL 1/1:1,26:27:30.47:864,30,0
2 209036605 rs10932244 T C 2237.38 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.2;MQ0=0;QD=38.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf80;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341287 GT:AD:DP:GQ:PL 1/1:0,58:58:99:2270,169,0
2 209036712 rs10804166 T C 5926.01 PASS AC=2;AF=1.00;AN=2;DB;DP=177;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.755;MQ=59.35;MQ0=0;QD=33.48;SNPEFF_AMINO_ACID_CHANGE=S133G;SNPEFF_CODON_CHANGE=Agt/Ggt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_209036712_209036799;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf80;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000451346 GT:AD:DP:GQ:PL 1/1:0,177:177:99:5926,442,0
2 209036778 rs6435421 A G 4250.04 PASS AC=2;AF=1.00;AN=2;DB;DP=135;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.6583;MQ=59.31;MQ0=0;QD=31.48;SNPEFF_AMINO_ACID_CHANGE=C111R;SNPEFF_CODON_CHANGE=Tgc/Cgc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_209036712_209036799;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf80;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000451346 GT:AD:DP:GQ:PL 1/1:1,133:135:99:4250,325,0
2 209037005 rs7564942 T C 76.24 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.41;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf80;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341287 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:108,9,0
2 209045657 rs10208685 T C 402.24 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.05;MQ0=0;QD=33.52;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf80;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000449053 GT:AD:DP:GQ:PL 1/1:0,12:12:33.10:435,33,0
2 209045839 rs56342568 T C 372.72 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.88;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf80;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000449053 GT:AD:DP:GQ:PL 1/1:0,11:11:30.10:406,30,0
2 209049840 rs10804167 C T 474.49 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.45;MQ0=0;QD=31.63;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf80;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341287 GT:AD:DP:GQ:PL 1/1:0,15:15:39.12:507,39,0
2 209101905 rs67780981 GA G 198.41 PASS AC=2;AF=1.00;AN=2;DB;DP=10;FS=0.0;HRun=10;HaplotypeScore=27.2812;IndelType=D;MQ=61.07;MQ0=0;QD=19.84;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IDH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000345146 GT:AD:DP:GQ:PL 1/1:0,9:10:29.03:240,29,0
2 209138946 rs6705163 C T 550.35 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=39.31;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIKFYVE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264380 GT:AD:DP:GQ:PL 1/1:0,14:14:42.14:583,42,0
2 209153256 rs4673390 T C 79.59 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.53;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIKFYVE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000422495 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:112,9,0
2 209163556 rs7569723 C T 783.16 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.6;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIKFYVE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264380 GT:AD:DP:GQ:PL 1/1:0,22:22:63.20:816,63,0
2 209165487 rs6755550 A T 254.71 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.84;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIKFYVE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264380 GT:AD:DP:GQ:PL 1/1:0,8:8:21.07:288,21,0
2 209168853 rs893256 C T 1512.18 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.54;MQ0=0;QD=36.88;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIKFYVE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477200 GT:AD:DP:GQ:PL 1/1:0,41:41:99:1545,114,0
2 209176807 rs58958114 T G 82.75 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.69;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIKFYVE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264380 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:115,9,0
2 209184844 rs934712 A G 171.64 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.39;MQ0=0;QD=19.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIKFYVE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264380 GT:AD:DP:GQ:PL 1/1:1,8:9:15.05:204,15,0
2 209184980 rs10932258 G A 2730.63 PASS AC=2;AF=1.00;AN=2;DB;DP=74;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.7887;MQ=59.69;MQ0=0;QD=36.9;SNPEFF_AMINO_ACID_CHANGE=S272N;SNPEFF_CODON_CHANGE=aGt/aAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_209184976_209185083;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIKFYVE;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000392200 GT:AD:DP:GQ:PL 1/1:0,74:74:99:2764,205,0
2 209184999 rs10932259 C T 3154.59 PASS AC=2;AF=1.00;AN=2;DB;DP=97;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9578;MQ=59.28;MQ0=0;QD=32.52;SNPEFF_AMINO_ACID_CHANGE=P278;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_209184976_209185083;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIKFYVE;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000392200 GT:AD:DP:GQ:PL 1/1:0,97:97:99:3188,244,0
2 209189442 rs7355562 T C 110.79 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.7;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIKFYVE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264380 GT:AD:DP:GQ:PL 1/1:0,4:4:12.02:143,12,0
2 209189912 rs893255 A G 356.80 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.68;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIKFYVE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264380 GT:AD:DP:GQ:PL 1/1:0,10:10:30.10:390,30,0
2 209190330 rs2363468 T C 1969.50 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.572;DB;DP=66;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.8835;MQ=60.0;MQ0=0;MQRankSum=0.133;QD=29.84;ReadPosRankSum=1.412;SNPEFF_AMINO_ACID_CHANGE=L508S;SNPEFF_CODON_CHANGE=tTg/tCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_209189994_209191153;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIKFYVE;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000392200 GT:AD:DP:GQ:PL 1/1:1,65:66:99:2003,128,0
2 209190519 rs893254 A T 1693.71 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.57;SNPEFF_AMINO_ACID_CHANGE=Q571L;SNPEFF_CODON_CHANGE=cAg/cTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_209189994_209191153;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIKFYVE;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000392200 GT:AD:DP:GQ:PL 1/1:0,49:49:99:1727,129,0
2 209190528 rs893253 C G 1749.99 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.23;SNPEFF_AMINO_ACID_CHANGE=T574S;SNPEFF_CODON_CHANGE=aCt/aGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_209189994_209191153;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIKFYVE;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000392200 GT:AD:DP:GQ:PL 1/1:0,47:47:99:1783,132,0
2 209191082 rs1529979 C A 1414.95 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.51;SNPEFF_AMINO_ACID_CHANGE=Q1127K;SNPEFF_CODON_CHANGE=Caa/Aaa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_209189994_209191153;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIKFYVE;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000452564 GT:AD:DP:GQ:PL 1/1:0,41:41:99:1448,111,0
2 209191099 rs1529978 T C 1434.91 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.4105;MQ=59.46;MQ0=0;QD=33.37;SNPEFF_AMINO_ACID_CHANGE=N1132;SNPEFF_CODON_CHANGE=aaT/aaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_209189994_209191153;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIKFYVE;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000452564 GT:AD:DP:GQ:PL 1/1:0,43:43:99:1468,114,0
2 209193185 rs976247 C A 47.98 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.99;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIKFYVE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443896 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
2 209194696 rs1437414 G C 669.15 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;QD=39.36;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIKFYVE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443896 GT:AD:DP:GQ:PL 1/1:0,17:17:51.17:702,51,0
2 209195099 rs1866045 G A 1884.47 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.873;MQ=58.67;MQ0=0;QD=38.46;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIKFYVE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443896 GT:AD:DP:GQ:PL 1/1:0,49:49:99:1917,144,0
2 209195133 rs12694109 T C 2413.42 PASS AC=2;AF=1.00;AN=2;DB;DP=69;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.99;MQ0=0;QD=34.98;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIKFYVE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443896 GT:AD:DP:GQ:PL 1/1:0,69:69:99:2446,190,0
2 209195491 rs112938452 G GAGA 1800.96 PASS AC=2;AF=1.00;AN=2;DB;DP=31;FS=0.0;HRun=0;HaplotypeScore=124.2464;IndelType=I;MQ=46.54;MQ0=0;QD=58.1;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIKFYVE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443896 GT:AD:DP:GQ:PL 1/1:3,26:31:84.29:1843,84,0
2 209195645 rs1866044 C T 48.08 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.04;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIKFYVE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443896 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
2 209199945 rs2363469 A G 2102.70 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.25;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIKFYVE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264380 GT:AD:DP:GQ:PL 1/1:0,58:58:99:2136,166,0
2 209200394 rs6718402 A C 283.45 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.66;MQ0=0;QD=28.35;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIKFYVE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264380 GT:AD:DP:GQ:PL 1/1:0,10:10:24.07:316,24,0
2 209201054 rs6744236 T C 316.26 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.36;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIKFYVE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000452564 GT:AD:DP:GQ:PL 1/1:0,12:12:30.09:349,30,0
2 209201739 rs7596571 T C 257.78 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.64;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIKFYVE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000452564 GT:AD:DP:GQ:PL 1/1:0,9:9:24.07:291,24,0
2 209203122 rs4675756 C G 160.82 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.16;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIKFYVE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000452564 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:194,15,0
2 209209827 rs2304544 G A 988.05 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.88;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIKFYVE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264380 GT:AD:DP:GQ:PL 1/1:0,32:32:75.22:1021,75,0
2 209209997 rs2043718 C T 241.68 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.21;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIKFYVE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264380 GT:AD:DP:GQ:PL 1/1:0,8:8:21.07:275,21,0
2 209212707 rs2304545 G A 1350.96 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.55;SNPEFF_AMINO_ACID_CHANGE=T1778;SNPEFF_CODON_CHANGE=acG/acA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_209212583_209212747;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIKFYVE;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000264380 GT:AD:DP:GQ:PL 1/1:0,38:38:99:1384,102,0
2 209214574 rs1561240 G A 214.88 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.81;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIKFYVE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264380 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:248,18,0
2 209214770 rs2118297 A G 2251.79 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.32;MQ0=0;QD=33.11;SNPEFF_AMINO_ACID_CHANGE=T1799;SNPEFF_CODON_CHANGE=acA/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_209214748_209214807;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIKFYVE;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000264380 GT:AD:DP:GQ:PL 1/1:0,68:68:99:2285,172,0
2 209215448 rs994696 A G 1084.25 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.32;MQ0=0;QD=31.89;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIKFYVE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264380 GT:AD:DP:GQ:PL 1/1:0,33:34:84.25:1117,84,0
2 209215586 rs994697 A G 2049.07 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8321;MQ=58.82;MQ0=0;QD=34.73;SNPEFF_AMINO_ACID_CHANGE=E1842;SNPEFF_CODON_CHANGE=gaA/gaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_209215495_209215671;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIKFYVE;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000264380 GT:AD:DP:GQ:PL 1/1:0,59:59:99:2082,165,0
2 209219049 rs6435452 T A 205 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.28;MQ0=0;QD=29.29;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIKFYVE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264380 GT:AD:DP:GQ:PL 1/1:0,7:7:18.06:238,18,0
2 209219190 rs6435453 A G 740.70 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.03;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIKFYVE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264380 GT:AD:DP:GQ:PL 1/1:0,20:20:60.19:774,60,0
2 209220157 rs10208191 G T 659.30 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.96;MQ0=0;QD=36.63;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PTH2R;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000413482 GT:AD:DP:GQ:PL 1/1:0,18:18:51.17:692,51,0
2 209220238 rs10208295 G C 78.87 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.29;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PTH2R;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000413482 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:111,9,0
2 209224578 rs4675759 A G 45.77 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.89;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIKFYVE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264380 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:77,6,0
2 209224641 rs4675760 T A 169.53 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.91;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIKFYVE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264380 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:202,15,0
2 209224874 rs11357589 CA C 2799.46 PASS AC=2;AF=1.00;AN=2;DB;DP=74;FS=0.0;HRun=2;HaplotypeScore=211.8163;IndelType=D;MQ=60.17;MQ0=0;QD=37.83;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIKFYVE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264380 GT:AD:DP:GQ:PL 1/1:0,74:74:99:2841,220,0
2 209225223 rs11693993 G A 52.28 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=51.77;MQ0=0;QD=17.43;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIKFYVE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264380 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:84,6,0
2 209293168 rs962595 C T 85.86 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.62;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PTH2R;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272847 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:118,9,0
2 209315573 rs1370371 G A 1216.85 PASS AB=0.519;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.652;DB;DP=77;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9789;MQ=59.43;MQ0=0;MQRankSum=0.395;QD=15.8;ReadPosRankSum=-0.27;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PTH2R;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272847 GT:AD:DP:GQ:PL 0/1:40,37:77:99:1247,0,1223
2 209345666 rs1377907 T G 47.34 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.67;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PTH2R;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272847 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
2 209345944 rs68044812 CT C 55.91 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.747;DB;DP=16;FS=0.0;HRun=17;HaplotypeScore=138.3823;IndelType=D;MQ=48.92;MQ0=0;MQRankSum=0.747;QD=3.49;ReadPosRankSum=0.747;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PTH2R;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272847 GT:AD:DP:GQ:PL 0/1:7,8:16:0.45:93,0,0
2 209353656 rs112662846 GT G 88.22 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=1.568;DB;DP=10;FS=0.0;HRun=10;HaplotypeScore=37.4321;IndelType=D;MQ=60.0;MQ0=0;MQRankSum=-0.633;QD=8.82;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PTH2R;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272847 GT:AD:DP:GQ:PL 0/1:4,6:10:76.53:127,0,77
2 209358027 rs3820900 C T 157.52 PASS AB=0.722;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.588;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.566;QD=4.38;ReadPosRankSum=-0.602;SNPEFF_AMINO_ACID_CHANGE=N432;SNPEFF_CODON_CHANGE=aaC/aaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_209357989_209359231;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PTH2R;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000272847 GT:AD:DP:GQ:PL 0/1:26,10:36:99:188,0,884
2 210010203 rs113896177 A G 43.30 PASS AB=0.765;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.673;DB;DP=18;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=54.96;MQ0=1;MQRankSum=-2.691;QD=2.41;ReadPosRankSum=-0.673;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC013409.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418459 GT:AD:DP:GQ:PL 0/1:13,4:18:73.30:73,0,372
2 210010241 rs111258352 G C 44.30 PASS AB=0.765;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.404;DB;DP=17;Dels=0.0;FS=2.933;HRun=0;HaplotypeScore=0.0;MQ=54.6;MQ0=1;MQRankSum=-2.691;QD=2.61;ReadPosRankSum=0.538;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC013409.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418459 GT:AD:DP:GQ:PL 0/1:13,4:17:74.29:74,0,407
2 210517785 rs2254169 C T 296.81 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000199940 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:330,24,0
2 210517915 rs2271252 T C 289.62 PASS AB=0.676;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.79;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.122;QD=7.83;ReadPosRankSum=0.99;SNPEFF_AMINO_ACID_CHANGE=D7;SNPEFF_CODON_CHANGE=gaT/gaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_210517866_210518156;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAP2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000199940 GT:AD:DP:GQ:PL 0/1:25,12:37:99:320,0,703
2 210555264 rs3768813 A G 1109.91 PASS AB=0.316;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.834;DB;DP=57;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=0.798;QD=19.47;ReadPosRankSum=-0.314;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000199940 GT:AD:DP:GQ:PL 0/1:18,39:57:99:1140,0,603
2 210555776 rs3768812 C T 78.36 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.495;DB;DP=7;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.922;QD=11.19;ReadPosRankSum=-0.922;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000199940 GT:AD:DP:GQ:PL 0/1:2,5:7:68.41:108,0,68
2 210557380 rs6720659 C T 660.32 PASS AB=0.574;AC=1;AF=0.50;AN=2;BaseQRankSum=2.992;DB;DP=61;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.86;MQ0=0;MQRankSum=-0.166;QD=10.82;ReadPosRankSum=0.418;SNPEFF_AMINO_ACID_CHANGE=H158;SNPEFF_CODON_CHANGE=caC/caT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_210557361_210561074;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAP2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000447185 GT:AD:DP:GQ:PL 0/1:35,26:61:99:690,0,966
2 210557542 rs741007 G A 1082.30 PASS AB=0.525;AC=1;AF=0.50;AN=2;BaseQRankSum=3.81;DB;DP=80;Dels=0.0;FS=1.832;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.409;QD=13.53;ReadPosRankSum=1.103;SNPEFF_AMINO_ACID_CHANGE=T212;SNPEFF_CODON_CHANGE=acG/acA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_210557361_210561074;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAP2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000447185 GT:AD:DP:GQ:PL 0/1:42,38:80:99:1112,0,1212
2 210558162 rs741006 G A 713.66 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.766;DB;DP=60;Dels=0.0;FS=3.591;HRun=3;HaplotypeScore=0.0;MQ=59.15;MQ0=0;MQRankSum=1.357;QD=11.89;ReadPosRankSum=-1.054;SNPEFF_AMINO_ACID_CHANGE=R419K;SNPEFF_CODON_CHANGE=aGg/aAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_210557361_210561074;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAP2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000447185 GT:AD:DP:GQ:PL 0/1:30,30:60:99:744,0,1023
2 210559438 . C T 784.08 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.663;DP=63;Dels=0.0;FS=2.562;HRun=0;HaplotypeScore=4.7451;MQ=59.27;MQ0=0;MQRankSum=-0.201;QD=12.45;ReadPosRankSum=-1.231;SNPEFF_AMINO_ACID_CHANGE=P844;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_210557361_210561074;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAP2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000447185 GT:AD:DP:GQ:PL 0/1:27,36:63:99:814,0,784
2 210559960 rs2239672 G T 422.21 PASS AB=0.692;AC=1;AF=0.50;AN=2;BaseQRankSum=0.367;DB;DP=52;Dels=0.0;FS=1.181;HRun=1;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=-1.457;QD=8.12;ReadPosRankSum=0.763;SNPEFF_AMINO_ACID_CHANGE=V1018;SNPEFF_CODON_CHANGE=gtG/gtT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_210557361_210561074;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAP2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000447185 GT:AD:DP:GQ:PL 0/1:36,16:52:99:452,0,1108
2 210561533 rs3217099 C CAGA 1367.64 PASS AB=0.671;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.687;DB;DP=47;FS=6.439;HRun=0;HaplotypeScore=152.179;IndelType=I;MQ=53.52;MQ0=0;MQRankSum=-0.718;QD=29.1;ReadPosRankSum=0.986;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000445941 GT:AD:DP:GQ:PL 0/1:24,23:47:99:1407,0,836
2 210561928 rs5838180 C CT 125.60 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.495;DB;DP=7;FS=0.0;HRun=6;HaplotypeScore=17.2766;IndelType=I;MQ=61.53;MQ0=0;MQRankSum=0.198;QD=17.94;ReadPosRankSum=-1.495;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000445941 GT:AD:DP:GQ:PL 0/1:2,5:7:40.17:165,0,40
2 210569459 rs12619409 G A 395.36 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.077;DB;DP=33;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.3;MQ0=0;MQRankSum=-0.415;QD=11.98;ReadPosRankSum=-1.473;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000199940 GT:AD:DP:GQ:PL 0/1:18,15:33:99:425,0,613
2 210588500 rs2284359 A C 82.87 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000199940 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:115,9,0
2 210594540 rs4673486 A G 126.75 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=0.53;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=55.52;MQ0=0;MQRankSum=-0.648;QD=7.92;ReadPosRankSum=1.237;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000199940 GT:AD:DP:GQ:PL 0/1:9,7:16:99:157,0,315
2 210594717 rs11389149 C CT 121.02 PASS AB=0.737;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.067;DB;DP=14;FS=3.123;HRun=5;HaplotypeScore=111.1726;IndelType=I;MQ=55.69;MQ0=0;MQRankSum=0.4;QD=8.64;ReadPosRankSum=0.267;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475600 GT:AD:DP:GQ:PL 0/1:9,5:14:70.15:160,0,70
2 210594721 . T TAA 302.53 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.77;DP=15;FS=3.136;HRun=0;HaplotypeScore=107.3874;IndelType=I;MQ=55.99;MQ0=0;MQRankSum=-0.295;QD=20.17;ReadPosRankSum=-0.53;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475600 GT:AD:DP:GQ:PL 0/1:6,7:15:99:342,0,202
2 210594768 rs7594601 T C 106.31 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=0.825;DB;DP=11;Dels=0.0;FS=2.632;HRun=0;HaplotypeScore=0.0;MQ=58.88;MQ0=0;MQRankSum=0.143;QD=9.66;ReadPosRankSum=-0.387;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475600 GT:AD:DP:GQ:PL 0/1:6,5:11:99:136,0,191
2 210650504 rs57637604 A G 46.12 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.06;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=UNC80;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272845 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:77,6,0
2 210654225 rs35337581 C T 1545.68 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.518;DB;DP=110;Dels=0.0;FS=5.309;HRun=0;HaplotypeScore=1.8136;MQ=59.58;MQ0=0;MQRankSum=-1.87;QD=14.05;ReadPosRankSum=-0.225;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=UNC80;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272845 GT:AD:DP:GQ:PL 0/1:60,50:110:99:1576,0,2103
2 210678691 rs2159745 T G 403.09 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.59;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=UNC80;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272845 GT:AD:DP:GQ:PL 1/1:0,12:12:36.07:436,36,0
2 210745681 rs2370838 C A 2744.57 PASS AC=2;AF=1.00;AN=2;DB;DP=78;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.7;MQ0=0;QD=35.19;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=UNC80;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272845 GT:AD:DP:GQ:PL 1/1:0,78:78:99:2778,202,0
2 210786137 rs9288415 G A 403.51 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.87;MQ0=0;QD=36.68;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=UNC80;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272845 GT:AD:DP:GQ:PL 1/1:0,11:11:33.11:437,33,0
2 210843383 rs2075117 G A 80.06 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.741;QD=8.01;ReadPosRankSum=0.0;SNPEFF_AMINO_ACID_CHANGE=Q2952;SNPEFF_CODON_CHANGE=caG/caA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_210843253_210843432;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=UNC80;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000272845 GT:AD:DP:GQ:PL 0/1:6,4:10:99:110,0,203
2 210846867 rs2723222 A G 2242.14 PASS AC=2;AF=1.00;AN=2;DB;DP=72;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.68;MQ0=0;QD=31.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=UNC80;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272845 GT:AD:DP:GQ:PL 1/1:0,72:72:99:2275,166,0
2 210874246 rs3738934 T C 871.16 PASS AB=0.412;AC=1;AF=0.50;AN=2;BaseQRankSum=1.56;DB;DP=51;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=59.55;MQ0=0;MQRankSum=-0.469;QD=17.08;ReadPosRankSum=1.311;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RPE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354506 GT:AD:DP:GQ:PL 0/1:21,30:51:99:901,0,703
2 210880492 rs2723211 G A 52.75 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.37;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf67;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281772 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
2 210880893 rs7570090 C T 285.32 PASS AB=0.613;AC=1;AF=0.50;AN=2;BaseQRankSum=1.127;DB;DP=31;Dels=0.0;FS=1.562;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.839;QD=9.2;ReadPosRankSum=1.127;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf67;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281772 GT:AD:DP:GQ:PL 0/1:19,12:31:99:315,0,558
2 210882171 rs2075116 A T 797.10 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=2.136;DB;DP=45;Dels=0.0;FS=1.65;HRun=2;HaplotypeScore=0.0;MQ=59.49;MQ0=0;MQRankSum=-0.605;QD=17.71;ReadPosRankSum=-0.286;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf67;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281772 GT:AD:DP:GQ:PL 0/1:20,25:45:99:827,0,556
2 210889759 rs6435550 A G 310.01 PASS AB=0.552;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.951;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9951;MQ=60.0;MQ0=0;MQRankSum=-1.557;QD=10.69;ReadPosRankSum=1.732;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RPE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354506 GT:AD:DP:GQ:PL 0/1:16,13:29:99:340,0,579
2 211060050 rs2286963 T G 1004.08 PASS AB=0.446;AC=1;AF=0.50;AN=2;BaseQRankSum=1.696;DB;DP=65;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.65;MQ0=0;MQRankSum=0.917;QD=15.45;ReadPosRankSum=-0.838;SNPEFF_AMINO_ACID_CHANGE=K333Q;SNPEFF_CODON_CHANGE=Aaa/Caa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_211059935_211060062;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACADL;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000233710 GT:AD:DP:GQ:PL 0/1:29,36:65:99:1034,0,846
2 211069438 rs263677 G A 1224.57 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9159;MQ=59.32;MQ0=0;QD=36.02;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACADL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000482502 GT:AD:DP:GQ:PL 1/1:0,34:34:93.30:1258,93,0
2 211074909 rs3764913 T C 889.44 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=1.489;DB;DP=84;Dels=0.0;FS=0.917;HRun=0;HaplotypeScore=0.0;MQ=59.5;MQ0=0;MQRankSum=-1.342;QD=10.59;ReadPosRankSum=-1.711;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACADL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233710 GT:AD:DP:GQ:PL 0/1:48,36:84:99:919,0,1471
2 211082539 rs72990900 G A 129.08 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.466;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.5784;MQ=56.09;MQ0=0;MQRankSum=0.387;QD=11.73;ReadPosRankSum=-0.717;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACADL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000482523 GT:AD:DP:GQ:PL 0/1:6,5:11:99:159,0,209
2 211162998 rs7592060 G A 202.43 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.715;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=50.27;MQ0=0;MQRankSum=-0.225;QD=14.46;ReadPosRankSum=1.109;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341685 GT:AD:DP:GQ:PL 0/1:6,8:14:99:232,0,161
2 211163063 rs112894708 TAC T 109.27 PASS AB=0.73;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.351;DB;DP=24;FS=3.854;HRun=0;HaplotypeScore=232.5042;IndelType=D;MQ=42.73;MQ0=1;MQRankSum=3.442;QD=4.05;ReadPosRankSum=0.362;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341685 GT:AD:DP:GQ:PL 0/1:10,9:24:99:148,0,280
2 211167132 rs2292300 A T 155.62 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.034;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.278;QD=14.15;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341685 GT:AD:DP:GQ:PL 0/1:4,7:11:99:186,0,106
2 211168181 rs35179660 T TC 259.93 PASS AB=0.588;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.58;DB;DP=10;FS=0.0;HRun=0;HaplotypeScore=19.7074;IndelType=I;MQ=60.0;MQ0=0;MQRankSum=0.296;QD=25.99;ReadPosRankSum=-0.546;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341685 GT:AD:DP:GQ:PL 0/1:3,7:10:95.86:299,0,96
2 211168346 rs12469767 A C 76.51 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.731;QD=15.3;ReadPosRankSum=0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000352451 GT:AD:DP:GQ:PL 0/1:1,4:5:29.19:106,0,29
2 211302651 rs16844452 T A 200.09 PASS AB=0.577;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.024;DB;DP=26;Dels=0.0;FS=2.551;HRun=0;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=0.208;QD=7.7;ReadPosRankSum=-2.491;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LANCL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000448951 GT:AD:DP:GQ:PL 0/1:15,11:26:99:230,0,546
2 211302685 rs13420747 T C 145.67 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.268;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.47;QD=14.57;ReadPosRankSum=-0.47;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LANCL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000448951 GT:AD:DP:GQ:PL 0/1:5,5:10:99:176,0,164
2 211305557 rs73069777 G A 40.30 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=13.43;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LANCL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233714 GT:AD:DP:GQ:PL 0/1:1,2:3:33.98:70,0,34
2 211306295 rs4673526 T C 326.70 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LANCL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233714 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:360,27,0
2 211306392 rs4673527 T C 83.39 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.8;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LANCL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233714 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:115,9,0
2 211319824 rs2287432 T C 1195.67 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.71;MQ0=0;QD=33.21;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LANCL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000453956 GT:AD:DP:GQ:PL 1/1:0,36:36:90.30:1229,90,0
2 211320041 rs71395583 G GAA 422.26 PASS AC=2;AF=1.00;AN=2;DB;DP=14;FS=0.0;HRun=12;HaplotypeScore=100.0044;IndelType=I;MQ=55.59;MQ0=0;QD=30.16;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LANCL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233714 GT:AD:DP:GQ:PL 1/1:1,11:14:36.10:464,36,0
2 211340937 rs3214410 A AT 151.41 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.573;DB;DP=9;FS=0.0;HRun=7;HaplotypeScore=20.1304;IndelType=I;MQ=57.39;MQ0=0;MQRankSum=0.573;QD=16.82;ReadPosRankSum=-1.422;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LANCL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233714 GT:AD:DP:GQ:PL 0/1:3,6:9:59.87:190,0,60
2 211341156 rs2287418 C G 245.79 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.265;DB;DP=20;Dels=0.0;FS=2.017;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.567;QD=12.29;ReadPosRankSum=-0.567;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_2_211341040_211341463;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LANCL1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000443314 GT:AD:DP:GQ:PL 0/1:10,10:20:99:276,0,350
2 211341204 rs76670466 G GC 452.71 PASS AC=2;AF=1.00;AN=2;DB;DP=11;FS=0.0;HRun=1;HaplotypeScore=48.6525;IndelType=I;MQ=60.0;MQ0=0;QD=41.16;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LANCL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233714 GT:AD:DP:GQ:PL 1/1:0,11:11:33.11:495,33,0
2 211342502 rs17552879 G A 199.82 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.501;DB;DP=20;Dels=0.0;FS=4.285;HRun=2;HaplotypeScore=0.0;MQ=58.84;MQ0=0;MQRankSum=1.196;QD=9.99;ReadPosRankSum=-0.733;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CPS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000417946 GT:AD:DP:GQ:PL 0/1:12,8:20:99:230,0,367
2 211370130 rs2370962 G A 33.56 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.026;QD=8.39;ReadPosRankSum=1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CPS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000417946 GT:AD:DP:GQ:PL 0/1:2,2:4:63.55:64,0,72
2 211421452 rs3835047 A ATCT 1419.87 PASS AB=0.652;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.28;DB;DP=45;FS=9.06;HRun=0;HaplotypeScore=169.5583;IndelType=I;MQ=56.12;MQ0=0;MQRankSum=-1.025;QD=31.55;ReadPosRankSum=-0.922;SNPEFF_AMINO_ACID_CHANGE=I5IF;SNPEFF_CODON_CHANGE=atc/aTCTtc;SNPEFF_EFFECT=CODON_INSERTION;SNPEFF_EXON_ID=exon_2_211421443_211421583;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CPS1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000430249 GT:AD:DP:GQ:PL 0/1:21,21:45:99:1459,0,744
2 211444533 rs35833900 G GGT 621.16 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.561;DB;DP=39;FS=0.0;HRun=0;HaplotypeScore=198.0703;IndelType=I;MQ=54.7;MQ0=0;MQRankSum=-1.214;QD=15.93;ReadPosRankSum=0.52;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CPS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000417946 GT:AD:DP:GQ:PL 1/1:22,13:39:24.88:663,25,0
2 211456637 rs1047883 A G 720.77 PASS AB=0.49;AC=1;AF=0.50;AN=2;BaseQRankSum=2.81;DB;DP=49;Dels=0.0;FS=16.902;HRun=0;HaplotypeScore=1.9654;MQ=59.53;MQ0=0;MQRankSum=0.15;QD=14.71;ReadPosRankSum=-0.09;SNPEFF_AMINO_ACID_CHANGE=T344A;SNPEFF_CODON_CHANGE=Acc/Gcc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_211456555_211456693;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CPS1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000233072 GT:AD:DP:GQ:PL 0/1:24,25:49:99:751,0,634
2 211456639 rs2229589 C T 688.44 PASS AB=0.479;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.61;DB;DP=48;Dels=0.0;FS=16.902;HRun=0;HaplotypeScore=1.9654;MQ=59.52;MQ0=0;MQRankSum=-1.053;QD=14.34;ReadPosRankSum=-0.454;SNPEFF_AMINO_ACID_CHANGE=T344;SNPEFF_CODON_CHANGE=acC/acT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_211456555_211456693;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CPS1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000233072 GT:AD:DP:GQ:PL 0/1:23,25:48:99:718,0,675
2 211457779 rs113899268 A G 269.51 PASS AB=0.609;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.913;DB;DP=23;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.99;MQ0=0;MQRankSum=-0.094;QD=11.72;ReadPosRankSum=0.85;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CPS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233072 GT:AD:DP:GQ:PL 0/1:14,9:23:99:300,0,506
2 211459105 rs113132447 C A 33.19 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.3;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.55;QD=4.74;ReadPosRankSum=-0.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CPS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233072 GT:AD:DP:GQ:PL 0/1:4,3:7:63.18:63,0,147
2 211463986 rs6743156 G A 189.30 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=2.637;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.825;QD=17.21;ReadPosRankSum=-0.387;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CPS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233072 GT:AD:DP:GQ:PL 0/1:5,6:11:99:219,0,109
2 211466828 rs112393887 C G 92.01 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.652;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.361;QD=10.22;ReadPosRankSum=-1.159;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CPS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000536125 GT:AD:DP:GQ:PL 0/1:5,4:9:99:122,0,181
2 211470086 rs2277909 T C 275.03 PASS AB=0.45;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.799;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.228;QD=13.75;ReadPosRankSum=0.532;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CPS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233072 GT:AD:DP:GQ:PL 0/1:9,11:20:99:305,0,310
2 211473070 rs2287600 G T 562.66 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=1.402;DB;DP=44;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=1.2434;MQ=58.95;MQ0=0;MQRankSum=0.106;QD=12.79;ReadPosRankSum=-1.756;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CPS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467353 GT:AD:DP:GQ:PL 0/1:20,24:44:99:593,0,570
2 211476695 rs67531750 CT C 109.58 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.74;DB;DP=12;FS=0.0;HRun=13;HaplotypeScore=71.5003;IndelType=D;MQ=56.04;MQ0=0;MQRankSum=0.555;QD=9.13;ReadPosRankSum=2.034;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CPS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233072 GT:AD:DP:GQ:PL 0/1:3,8:12:25.55:149,0,26
2 211481033 rs114764732 A G 245.51 PASS AB=0.438;AC=1;AF=0.50;AN=2;BaseQRankSum=0.741;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.55;MQ0=0;MQRankSum=0.0;QD=15.34;ReadPosRankSum=-0.106;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CPS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233072 GT:AD:DP:GQ:PL 0/1:7,9:16:99:276,0,205
2 211481257 rs2287599 C G 733.72 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=0.236;DB;DP=51;Dels=0.0;FS=1.092;HRun=2;HaplotypeScore=0.9999;MQ=60.0;MQ0=0;MQRankSum=0.953;QD=14.39;ReadPosRankSum=0.236;SNPEFF_AMINO_ACID_CHANGE=G442;SNPEFF_CODON_CHANGE=ggC/ggG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_211481147_211481265;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CPS1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000451903 GT:AD:DP:GQ:PL 0/1:24,27:51:99:764,0,699
2 211513118 rs4673540 C T 854.51 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.15;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CPS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000497121 GT:AD:DP:GQ:PL 1/1:0,23:23:66.22:888,66,0
2 211514995 rs34449727 G T 648.22 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.13;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CPS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000497121 GT:AD:DP:GQ:PL 1/1:0,17:17:51.17:681,51,0
2 211521227 rs112160784 CT C 60.19 PASS AB=0.652;AC=1;AF=0.50;AN=2;BaseQRankSum=1.733;DB;DP=30;FS=11.761;HRun=15;HaplotypeScore=176.8045;IndelType=D;MQ=48.54;MQ0=0;MQRankSum=1.733;QD=2.01;ReadPosRankSum=1.271;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CPS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233072 GT:AD:DP:GQ:PL 0/1:14,14:30:23.23:99,0,23
2 211523457 rs6435580 C T 653 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.65;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CPS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233072 GT:AD:DP:GQ:PL 1/1:0,20:20:51.16:686,51,0
2 211527827 rs71395590 GT G 868.98 PASS AC=2;AF=1.00;AN=2;DB;DP=46;FS=0.0;HRun=12;HaplotypeScore=140.4187;IndelType=D;MQ=60.7;MQ0=0;QD=18.89;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CPS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233072 GT:AD:DP:GQ:PL 1/1:5,40:46:99:911,119,0
2 211533070 rs10932347 A G 1453.49 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=39.28;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CPS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233072 GT:AD:DP:GQ:PL 1/1:0,37:37:99:1486,111,0
2 211540507 rs1047891 C A 545.56 PASS AB=0.54;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.673;DB;DP=50;Dels=0.0;FS=1.093;HRun=1;HaplotypeScore=0.8321;MQ=59.54;MQ0=0;MQRankSum=0.07;QD=10.91;ReadPosRankSum=-0.631;SNPEFF_AMINO_ACID_CHANGE=T1406N;SNPEFF_CODON_CHANGE=aCc/aAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_211540452_211540564;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CPS1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000233072 GT:AD:DP:GQ:PL 0/1:27,23:50:99:576,0,789
2 211542525 rs17832175 A G 1002.26 PASS AB=0.539;AC=1;AF=0.50;AN=2;BaseQRankSum=1.453;DB;DP=89;Dels=0.0;FS=3.892;HRun=4;HaplotypeScore=0.0;MQ=59.74;MQ0=0;MQRankSum=-0.086;QD=11.26;ReadPosRankSum=-1.387;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CPS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233072 GT:AD:DP:GQ:PL 0/1:48,41:89:99:1032,0,1663
2 212251864 rs3748962 T C 1385.19 PASS AB=0.475;AC=1;AF=0.50;AN=2;BaseQRankSum=1.338;DB;DP=99;Dels=0.0;FS=1.754;HRun=0;HaplotypeScore=0.9832;MQ=58.83;MQ0=0;MQRankSum=1.177;QD=13.99;ReadPosRankSum=2.226;SNPEFF_AMINO_ACID_CHANGE=V1049;SNPEFF_CODON_CHANGE=gtA/gtG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_212251578_212251875;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ERBB4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000436443 GT:AD:DP:GQ:PL 0/1:47,52:99:99:1415,0,1402
2 212252809 rs934607 G A 1621.98 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.86;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ERBB4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342788 GT:AD:DP:GQ:PL 1/1:0,44:44:99:1655,123,0
2 212252955 rs934606 C T 38.62 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.026;QD=9.65;ReadPosRankSum=1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ERBB4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342788 GT:AD:DP:GQ:PL 0/1:2,2:4:68.61:69,0,72
2 212285103 rs2289086 T C 134.60 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.811;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.2;MQ0=0;MQRankSum=-1.656;QD=10.35;ReadPosRankSum=-0.312;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ERBB4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342788 GT:AD:DP:GQ:PL 0/1:7,6:13:99:165,0,218
2 212285339 rs66965227 AAAAG A 814.43 PASS AB=0.646;AC=1;AF=0.50;AN=2;BaseQRankSum=4.375;DB;DP=31;FS=3.78;HRun=0;HaplotypeScore=164.1425;IndelType=D;MQ=56.31;MQ0=0;MQRankSum=0.564;QD=26.27;ReadPosRankSum=0.894;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ERBB4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342788 GT:AD:DP:GQ:PL 0/1:14,17:31:99:853,0,787
2 212295875 rs6710946 C T 639.76 PASS AB=0.457;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.698;DB;DP=46;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=0.221;QD=13.91;ReadPosRankSum=-0.926;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ERBB4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342788 GT:AD:DP:GQ:PL 0/1:21,25:46:99:670,0,591
2 212488870 rs3215298 G GC 762.66 PASS AC=2;AF=1.00;AN=2;DB;DP=17;FS=0.0;HRun=0;HaplotypeScore=48.3972;IndelType=I;MQ=60.63;MQ0=0;QD=44.86;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ERBB4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342788 GT:AD:DP:GQ:PL 1/1:0,17:17:51.17:805,51,0
2 212495342 . A AT 1065.02 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.406;DP=56;FS=1.441;HRun=0;HaplotypeScore=150.166;IndelType=I;MQ=59.62;MQ0=0;MQRankSum=0.704;QD=19.02;ReadPosRankSum=0.969;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ERBB4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342788 GT:AD:DP:GQ:PL 0/1:24,32:56:99:1104,0,791
2 212543924 rs4673628 A G 475.93 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=0.478;DB;DP=30;Dels=0.0;FS=3.917;HRun=0;HaplotypeScore=1.9468;MQ=53.52;MQ0=0;MQRankSum=-0.312;QD=15.86;ReadPosRankSum=0.769;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ERBB4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342788 GT:AD:DP:GQ:PL 0/1:14,16:30:99:506,0,325
2 212544024 rs10169970 G A 90.03 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=61.78;MQ0=0;MQRankSum=-0.72;QD=15.0;ReadPosRankSum=-0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ERBB4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342788 GT:AD:DP:GQ:PL 0/1:2,4:6:60.70:120,0,61
2 212569879 rs10221746 T C 69.84 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.406;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.988;QD=11.64;ReadPosRankSum=0.406;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ERBB4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342788 GT:AD:DP:GQ:PL 0/1:3,3:6:99:100,0,108
2 212569983 rs6723705 G A 724.96 PASS AB=0.313;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.162;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9933;MQ=59.28;MQ0=0;MQRankSum=-0.528;QD=22.65;ReadPosRankSum=-0.401;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ERBB4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342788 GT:AD:DP:GQ:PL 0/1:10,22:32:99:755,0,318
2 212812060 rs839540 T C 246.21 PASS AB=0.385;AC=1;AF=0.50;AN=2;BaseQRankSum=1.67;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=18.94;ReadPosRankSum=0.437;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ERBB4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342788 GT:AD:DP:GQ:PL 0/1:5,8:13:99:276,0,157
2 212812097 rs839541 T C 371.45 PASS AB=0.348;AC=1;AF=0.50;AN=2;BaseQRankSum=0.355;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.388;QD=16.15;ReadPosRankSum=-0.936;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ERBB4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342788 GT:AD:DP:GQ:PL 0/1:8,15:23:99:401,0,264
2 212989308 rs6738304 T C 130.62 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.66;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ERBB4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000459774 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:163,12,0
2 213886647 . A ATTTTATCT 3407.80 PASS AC=2;AF=1.00;AN=2;DP=33;FS=0.0;HRun=0;HaplotypeScore=173.9321;IndelType=I;MQ=33.94;MQ0=0;QD=103.27;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IKZF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342002 GT:AD:DP:GQ:PL 1/1:13,19:33:84.29:3408,84,0
2 213914343 rs2165444 C T 506.95 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.21;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IKZF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000433134 GT:AD:DP:GQ:PL 1/1:0,14:14:39.13:540,39,0
2 214012405 rs6738070 A C 2738.10 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.237;DB;DP=105;Dels=0.04;FS=3.979;HRun=0;HaplotypeScore=12.8232;MQ=59.58;MQ0=0;MQRankSum=-0.28;QD=24.89;ReadPosRankSum=-0.016;SNPEFF_AMINO_ACID_CHANGE=L62V;SNPEFF_CODON_CHANGE=Ttg/Gtg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_214012096_214012536;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IKZF2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000442445 GT:AD:DP:GQ:PL 1/1:1,104:105:99:2771,229,0
2 214161849 rs1488988 C T 74.23 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.358;QD=14.85;ReadPosRankSum=0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPAG16;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272898 GT:AD:DP:GQ:PL 0/1:2,3:5:61.03:104,0,61
2 214174767 rs10498003 C T 741.29 PASS AB=0.527;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.667;DB;DP=55;Dels=0.0;FS=2.921;HRun=0;HaplotypeScore=0.9578;MQ=59.24;MQ0=0;MQRankSum=0.7;QD=13.48;ReadPosRankSum=0.059;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPAG16;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272898 GT:AD:DP:GQ:PL 0/1:29,26:55:99:771,0,879
2 214182100 rs10183630 A T 539.83 PASS AB=0.406;AC=1;AF=0.50;AN=2;BaseQRankSum=0.23;DB;DP=32;Dels=0.0;FS=8.272;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.113;QD=16.87;ReadPosRankSum=0.537;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPAG16;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272898 GT:AD:DP:GQ:PL 0/1:13,19:32:99:570,0,410
2 214228792 rs12469417 C T 513.35 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.2;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPAG16;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272898 GT:AD:DP:GQ:PL 1/1:0,17:17:42.14:546,42,0
2 214228959 rs4146048 G A 263.40 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.9789;MQ=60.0;MQ0=0;QD=32.92;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPAG16;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000414961 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:296,24,0
2 214261534 rs339815 T C 316.95 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.7;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPAG16;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272898 GT:AD:DP:GQ:PL 1/1:0,10:10:30.09:350,30,0
2 215013801 rs3043764 G GTATA 309.92 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.747;DB;DP=9;FS=0.0;HRun=0;HaplotypeScore=65.0203;IndelType=I;MQ=64.64;MQ0=0;MQRankSum=0.747;QD=34.44;ReadPosRankSum=-0.747;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPAG16;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331683 GT:AD:DP:GQ:PL 1/1:4,5:9:2.08:348,2,0
2 215014212 rs6435816 A G 88.09 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPAG16;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331683 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:120,9,0
2 215562577 rs10427252 G A 1822 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.54;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=ENSAP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000312710 GT:AD:DP:GQ:PL 1/1:0,56:56:99:1855,141,0
2 215593233 rs5020511 T C 37.06 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=51.77;MQ0=0;MQRankSum=-0.736;QD=12.35;ReadPosRankSum=-0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BARD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421162 GT:AD:DP:GQ:PL 0/1:1,2:3:30.98:67,0,31
2 215593851 rs2075623 G C 60.23 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.537;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=10.04;ReadPosRankSum=1.537;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BARD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421162 GT:AD:DP:GQ:PL 0/1:3,3:6:90.22:90,0,106
2 215593871 rs2075622 T G 70.50 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9159;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=17.62;ReadPosRankSum=-0.727;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BARD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421162 GT:AD:DP:GQ:PL 0/1:1,3:4:29.73:100,0,30
2 215595440 rs3738887 T A 39.83 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.231;QD=7.97;ReadPosRankSum=1.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BARD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260947 GT:AD:DP:GQ:PL 0/1:3,2:5:69.83:70,0,111
2 215595765 rs6435849 C G 323.53 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.87;MQ0=0;QD=29.41;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BARD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260947 GT:AD:DP:GQ:PL 1/1:0,11:11:27.09:357,27,0
2 215610313 rs6730040 G T 217.70 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.656;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.33;MQ0=0;MQRankSum=-1.791;QD=15.55;ReadPosRankSum=0.312;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BARD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465841 GT:AD:DP:GQ:PL 0/1:7,7:14:99:248,0,180
2 215610740 rs1838803 A T 287.13 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=6;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.93;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BARD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260947 GT:AD:DP:GQ:PL 1/1:0,12:12:30.07:320,30,0
2 215632256 rs2070093 A G 1317.80 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.38;SNPEFF_AMINO_ACID_CHANGE=H362;SNPEFF_CODON_CHANGE=caT/caC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_215632206_215632378;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BARD1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000449967 GT:AD:DP:GQ:PL 1/1:0,42:42:99:1351,105,0
2 215634232 rs6733785 A G 58.54 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=19.51;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BARD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260947 GT:AD:DP:GQ:PL 1/1:0,3:3:9.01:91,9,0
2 215645135 rs3768707 A G 93.72 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.24;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BARD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471787 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:126,9,0
2 215645464 rs2229571 C G 807.89 PASS AB=0.446;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.121;DB;DP=56;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.59;MQ0=0;MQRankSum=0.445;QD=14.43;ReadPosRankSum=-0.956;SNPEFF_AMINO_ACID_CHANGE=R234S;SNPEFF_CODON_CHANGE=agG/agC;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_215645284_215646233;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BARD1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000449967 GT:AD:DP:GQ:PL 0/1:25,31:56:99:838,0,858
2 215645545 rs2070096 C G 901.92 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.034;DB;DP=60;Dels=0.0;FS=1.02;HRun=1;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=-0.249;QD=15.03;ReadPosRankSum=0.113;SNPEFF_AMINO_ACID_CHANGE=T207;SNPEFF_CODON_CHANGE=acG/acC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_215645284_215646233;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BARD1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000449967 GT:AD:DP:GQ:PL 0/1:24,36:60:99:932,0,666
2 215674090 rs35933323 T G 91.51 PASS AB=0.722;AC=1;AF=0.50;AN=2;BaseQRankSum=2.793;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.528;QD=5.08;ReadPosRankSum=-0.474;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BARD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260947 GT:AD:DP:GQ:PL 0/1:13,5:18:99:122,0,384
2 215712375 rs1446361 G A 49.09 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.55;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=AC016708.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000457497 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:80,6,0
2 215797332 rs17426207 C T 428.75 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.504;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.504;QD=28.58;ReadPosRankSum=-1.042;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389661 GT:AD:DP:GQ:PL 1/1:1,14:15:36.10:462,36,0
2 215797527 rs10532785 AATTC A 392.18 PASS AC=2;AF=1.00;AN=2;DB;DP=9;FS=0.0;HRun=0;HaplotypeScore=48.097;IndelType=D;MQ=67.91;MQ0=0;QD=43.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272895 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:434,27,0
2 215798724 rs943295 A C 507.30 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.71;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272895 GT:AD:DP:GQ:PL 1/1:0,16:16:39.13:540,39,0
2 215802112 rs3738884 G A 166.50 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272895 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:199,15,0
2 215811905 rs71428356 C T 42.86 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=14.29;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272895 GT:AD:DP:GQ:PL 0/1:1,2:3:31.62:73,0,32
2 215812297 rs2274412 G A 724.65 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.94;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272895 GT:AD:DP:GQ:PL 1/1:0,22:22:57.19:758,57,0
2 215820013 rs10498027 G A 937.22 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.07;MQ0=0;QD=37.49;SNPEFF_AMINO_ACID_CHANGE=Y1784;SNPEFF_CODON_CHANGE=taC/taT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_215819926_215820085;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA12;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000389661 GT:AD:DP:GQ:PL 1/1:0,25:25:72.24:970,72,0
2 215821214 rs35062977 GTAT G 774.17 PASS AC=2;AF=1.00;AN=2;DB;DP=18;FS=0.0;HRun=0;HaplotypeScore=76.157;IndelType=D;MQ=56.6;MQ0=0;QD=43.01;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272895 GT:AD:DP:GQ:PL 1/1:1,17:18:51.17:816,51,0
2 215821580 rs17492577 T C 618.18 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272895 GT:AD:DP:GQ:PL 1/1:0,17:17:48.16:651,48,0
2 215823334 rs956132 C T 170.88 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.18;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272895 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:204,15,0
2 215823346 rs956133 A G 52.22 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.11;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272895 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:83,6,0
2 215833415 rs4673925 A G 2521.28 PASS AC=2;AF=1.00;AN=2;DB;DP=73;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.68;MQ0=0;QD=34.54;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272895 GT:AD:DP:GQ:PL 1/1:0,72:73:99:2554,187,0
2 215833622 rs6756540 G T 832.61 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272895 GT:AD:DP:GQ:PL 1/1:0,25:25:72.22:866,72,0
2 215840414 rs17493319 C A 669.58 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.24;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272895 GT:AD:DP:GQ:PL 1/1:0,19:19:51.17:703,51,0
2 215840829 rs7594021 A G 438.91 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272895 GT:AD:DP:GQ:PL 1/1:0,15:15:36.11:472,36,0
2 215843949 rs7593044 T C 37.45 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=12.48;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272895 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:69,6,0
2 215847177 rs4610055 C A 453.78 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.63;MQ0=0;QD=26.69;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272895 GT:AD:DP:GQ:PL 1/1:0,17:17:39.12:487,39,0
2 215848674 rs71399166 G GA 335.47 PASS AC=2;AF=1.00;AN=2;DB;DP=10;FS=0.0;HRun=6;HaplotypeScore=18.3238;IndelType=I;MQ=61.07;MQ0=0;QD=33.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272895 GT:AD:DP:GQ:PL 1/1:0,10:10:30.10:377,30,0
2 215851246 rs7559069 A G 888.80 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.18;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272895 GT:AD:DP:GQ:PL 1/1:0,25:26:69.23:922,69,0
2 215855780 rs4533467 G A 1052.71 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.96;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272895 GT:AD:DP:GQ:PL 1/1:0,31:31:84.24:1086,84,0
2 215855897 rs1880134 T G 49.99 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272895 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
2 215862383 rs1980844 G A 2701.72 PASS AC=2;AF=1.00;AN=2;DB;DP=76;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.311;MQ=59.7;MQ0=0;QD=35.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272895 GT:AD:DP:GQ:PL 1/1:0,76:76:99:2735,214,0
2 215862633 rs1326748 C G 1085.44 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.92;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272895 GT:AD:DP:GQ:PL 1/1:0,32:32:81.27:1118,81,0
2 215862711 rs57145875 G A 397.37 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.98;MQ0=0;QD=36.12;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272895 GT:AD:DP:GQ:PL 1/1:0,11:11:33.10:430,33,0
2 215865849 rs2049361 G A 152.24 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.45;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272895 GT:AD:DP:GQ:PL 1/1:0,5:5:15.03:185,15,0
2 215866574 rs10169991 C G 87.93 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.31;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272895 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:120,9,0
2 215872334 rs940279 G A 771.49 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.74;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272895 GT:AD:DP:GQ:PL 1/1:0,21:21:63.18:804,63,0
2 215874918 rs4673929 T C 343.63 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.24;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272895 GT:AD:DP:GQ:PL 1/1:0,11:11:27.09:377,27,0
2 215874965 rs6733264 G T 706.75 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=39.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272895 GT:AD:DP:GQ:PL 1/1:0,18:18:54.18:740,54,0
2 215875251 rs1409607 A T 363.80 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272895 GT:AD:DP:GQ:PL 1/1:0,12:12:30.09:397,30,0
2 215876166 rs7560008 A T 928.98 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.97;SNPEFF_AMINO_ACID_CHANGE=S459T;SNPEFF_CODON_CHANGE=Tcc/Acc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_215876163_215876373;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA12;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000389661 GT:AD:DP:GQ:PL 1/1:0,30:30:78.23:962,78,0
2 215880108 rs6753310 C T 138.50 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.7;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272895 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:171,12,0
2 215882529 rs6435868 G A 113.44 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272895 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:146,12,0
2 215883988 rs1403835 T C 382.88 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.81;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272895 GT:AD:DP:GQ:PL 1/1:0,11:11:33.10:416,33,0
2 215890253 rs2177424 C G 38.18 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=19.09;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272895 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:69,6,0
2 215890312 rs2177423 A G 376.16 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=36.07;MQ0=0;QD=31.35;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272895 GT:AD:DP:GQ:PL 1/1:0,12:12:36.10:409,36,0
2 215890324 rs11413846 G GT 317.64 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.401;DB;DP=13;FS=0.0;HRun=10;HaplotypeScore=128.2603;IndelType=I;MQ=35.57;MQ0=0;MQRankSum=-1.47;QD=24.43;ReadPosRankSum=0.134;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272895 GT:AD:DP:GQ:PL 1/1:1,12:13:14.45:359,14,0
2 215890352 rs67593537 GTT G 462.85 PASS AC=2;AF=1.00;AN=2;DB;DP=17;FS=0.0;HRun=11;HaplotypeScore=148.1992;IndelType=D;MQ=43.49;MQ0=0;QD=27.23;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272895 GT:AD:DP:GQ:PL 1/1:4,13:17:48.11:505,48,0
2 215896316 rs4673935 A G 113.35 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.34;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272895 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:146,12,0
2 215896349 rs4672744 T G 169.48 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.9;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272895 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:202,15,0
2 215896352 rs4673936 A G 163.57 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.71;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272895 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:196,15,0
2 215940242 rs6711179 T C 1272.17 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.3;MQ0=0;QD=38.55;SNPEFF_AMINO_ACID_CHANGE=I88V;SNPEFF_CODON_CHANGE=Att/Gtt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_215940215_215940340;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA12;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000412081 GT:AD:DP:GQ:PL 1/1:0,33:33:96.31:1305,96,0
2 215976231 rs2948978 A T 649.26 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.9992;MQ=60.0;MQ0=0;QD=27.05;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCA12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272895 GT:AD:DP:GQ:PL 1/1:0,24:24:66.15:682,66,0
2 216182769 rs4672766 A T 293.85 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.09;MQ0=0;QD=26.71;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATIC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236959 GT:AD:DP:GQ:PL 1/1:0,11:11:33.03:327,33,0
2 216182770 rs75285060 C T 181.87 PASS AB=0.182;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.118;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.09;MQ0=0;MQRankSum=0.354;QD=16.53;ReadPosRankSum=-0.589;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATIC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236959 GT:AD:DP:GQ:PL 0/1:2,9:11:48.08:212,0,48
2 216184482 rs16853782 A G 278.82 PASS AB=0.55;AC=1;AF=0.50;AN=2;BaseQRankSum=0.532;DB;DP=20;Dels=0.0;FS=3.197;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.064;QD=13.94;ReadPosRankSum=0.456;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATIC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236959 GT:AD:DP:GQ:PL 0/1:11,9:20:99:309,0,350
2 216189825 rs3772077 A G 108.87 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.55;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.55;QD=15.55;ReadPosRankSum=-1.754;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATIC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236959 GT:AD:DP:GQ:PL 0/1:3,4:7:92.61:139,0,93
2 216189845 rs3772078 A G 107.50 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=1.159;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.729;QD=11.94;ReadPosRankSum=1.307;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATIC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236959 GT:AD:DP:GQ:PL 0/1:5,4:9:99:137,0,175
2 216190654 rs7563206 C T 309.89 PASS AB=0.52;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.454;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9578;MQ=59.07;MQ0=0;MQRankSum=-0.779;QD=12.4;ReadPosRankSum=-0.375;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATIC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236959 GT:AD:DP:GQ:PL 0/1:13,12:25:99:340,0,384
2 216190691 rs2177737 A C 972.09 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATIC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236959 GT:AD:DP:GQ:PL 1/1:0,32:32:75.20:1005,75,0
2 216191515 rs6751557 C T 906.97 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.955;DB;DP=63;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.3302;MQ=59.27;MQ0=0;MQRankSum=-0.262;QD=14.4;ReadPosRankSum=0.219;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATIC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000444305 GT:AD:DP:GQ:PL 0/1:35,28:63:99:937,0,997
2 216191533 rs78562722 C T 1186.86 PASS AB=0.432;AC=1;AF=0.50;AN=2;BaseQRankSum=1.196;DB;DP=74;Dels=0.0;FS=8.483;HRun=0;HaplotypeScore=0.9933;MQ=59.38;MQ0=0;MQRankSum=-0.561;QD=16.04;ReadPosRankSum=0.153;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATIC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000444305 GT:AD:DP:GQ:PL 0/1:32,42:74:99:1217,0,1056
2 216197971 rs12995526 T C 144.20 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=0.466;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.143;QD=13.11;ReadPosRankSum=0.825;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATIC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236959 GT:AD:DP:GQ:PL 0/1:6,5:11:99:174,0,214
2 216199881 rs7594036 T G 52.28 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.14;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATIC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427397 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
2 216200907 rs13002576 C G 692.49 PASS AB=0.577;AC=1;AF=0.50;AN=2;BaseQRankSum=1.676;DB;DP=52;Dels=0.0;FS=3.736;HRun=0;HaplotypeScore=1.8317;MQ=59.56;MQ0=0;MQRankSum=0.102;QD=13.32;ReadPosRankSum=0.343;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATIC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427397 GT:AD:DP:GQ:PL 0/1:30,22:52:99:722,0,1065
2 216209303 rs12471482 T C 84.54 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.18;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATIC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236959 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:117,9,0
2 216211712 rs10932609 A T 530.12 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.66;MQ0=0;QD=37.87;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATIC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000459796 GT:AD:DP:GQ:PL 1/1:0,14:14:42.13:563,42,0
2 216212279 rs4673992 G C 1039.91 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8321;MQ=59.38;MQ0=0;QD=34.66;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATIC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000459796 GT:AD:DP:GQ:PL 1/1:0,30:30:81.26:1073,81,0
2 216214492 rs10498036 T G 715.22 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.84;MQ0=0;QD=35.76;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATIC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236959 GT:AD:DP:GQ:PL 1/1:0,20:20:54.18:748,54,0
2 216235089 rs1250209 C T 1069.46 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=59.25;MQ0=0;QD=34.5;SNPEFF_AMINO_ACID_CHANGE=V1960I;SNPEFF_CODON_CHANGE=Gtc/Atc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_216235017_216235155;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FN1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000357867 GT:AD:DP:GQ:PL 1/1:0,31:31:81.27:1102,81,0
2 216236532 rs10804241 G A 43.01 PASS AB=0.769;AC=1;AF=0.50;AN=2;BaseQRankSum=1.268;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.93;QD=3.31;ReadPosRankSum=-1.099;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000438981 GT:AD:DP:GQ:PL 0/1:10,3:13:73.01:73,0,294
2 216237929 rs2289199 A T 138.14 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=1.663;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8667;MQ=58.05;MQ0=0;MQRankSum=1.034;QD=11.51;ReadPosRankSum=1.034;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474036 GT:AD:DP:GQ:PL 0/1:5,7:12:99:168,0,124
2 216240126 rs3214672 AAC A 255.60 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=1.666;DB;DP=9;FS=3.802;HRun=0;HaplotypeScore=32.6764;IndelType=D;MQ=60.0;MQ0=0;MQRankSum=-0.762;QD=28.4;ReadPosRankSum=1.179;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474036 GT:AD:DP:GQ:PL 0/1:2,7:9:82.90:295,0,83
2 216242917 rs1132741 T A 465.80 PASS AB=0.524;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.053;DB;DP=42;Dels=0.0;FS=2.807;HRun=0;HaplotypeScore=0.9832;MQ=58.89;MQ0=0;MQRankSum=1.196;QD=11.09;ReadPosRankSum=-1.524;SNPEFF_AMINO_ACID_CHANGE=G1716;SNPEFF_CODON_CHANGE=ggA/ggT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_216242898_216242985;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FN1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000356005 GT:AD:DP:GQ:PL 0/1:22,20:42:99:496,0,784
2 216243832 rs1250204 T C 583.68 PASS AB=0.361;AC=1;AF=0.50;AN=2;BaseQRankSum=0.324;DB;DP=36;Dels=0.0;FS=6.582;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.051;QD=16.21;ReadPosRankSum=0.119;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000480737 GT:AD:DP:GQ:PL 0/1:13,23:36:99:614,0,396
2 216245392 rs3732355 C T 402.76 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.754;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.03;MQ0=0;MQRankSum=1.262;QD=16.78;ReadPosRankSum=0.031;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000480737 GT:AD:DP:GQ:PL 0/1:12,12:24:99:433,0,366
2 216248305 rs1250203 G T 212.48 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.752;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9886;MQ=60.0;MQ0=0;MQRankSum=-1.794;QD=13.28;ReadPosRankSum=1.099;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265313 GT:AD:DP:GQ:PL 0/1:8,7:16:99:242,0,290
2 216248606 rs13018173 T C 189.66 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.067;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.63;MQ0=0;MQRankSum=-1.067;QD=23.71;ReadPosRankSum=-0.572;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265313 GT:AD:DP:GQ:PL 0/1:2,6:8:61.21:220,0,61
2 216248707 rs3214671 TAA T 330.49 PASS AB=0.703;AC=1;AF=0.50;AN=2;BaseQRankSum=1.844;DB;DP=25;FS=0.0;HRun=4;HaplotypeScore=84.0147;IndelType=D;MQ=58.83;MQ0=1;MQRankSum=0.498;QD=12.71;ReadPosRankSum=1.2;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265313 GT:AD:DP:GQ:PL 0/1:15,11:25:99:370,0,715
2 216249587 rs13652 C T 488.81 PASS AB=0.619;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.922;DB;DP=42;Dels=0.0;FS=2.68;HRun=1;HaplotypeScore=0.9159;MQ=59.56;MQ0=0;MQRankSum=0.762;QD=11.64;ReadPosRankSum=-0.334;SNPEFF_AMINO_ACID_CHANGE=E1484;SNPEFF_CODON_CHANGE=gaG/gaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_216249583_216249699;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FN1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000336916 GT:AD:DP:GQ:PL 0/1:26,16:42:99:519,0,875
2 216249819 rs1250201 C T 34.59 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=6.92;ReadPosRankSum=0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265313 GT:AD:DP:GQ:PL 0/1:3,2:5:64.58:65,0,97
2 216251697 rs35343655 G A 183.14 PASS AB=0.222;AC=1;AF=0.50;AN=2;BaseQRankSum=0.067;DB;DP=9;Dels=0.0;FS=3.802;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.666;QD=20.35;ReadPosRankSum=0.762;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265313 GT:AD:DP:GQ:PL 0/1:2,7:9:23.69:213,0,24
2 216252756 rs2888354 T C 51.75 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265313 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:83,6,0
2 216256615 rs6709607 T C 585.96 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.62;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265313 GT:AD:DP:GQ:PL 1/1:0,16:16:45.15:619,45,0
2 216256707 rs10804242 T C 49.83 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.92;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265313 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
2 216257949 rs113798880 GA G 486.27 PASS AB=0.681;AC=1;AF=0.50;AN=2;BaseQRankSum=4.504;DB;DP=32;FS=0.0;HRun=1;HaplotypeScore=89.8097;IndelType=D;MQ=60.43;MQ0=0;MQRankSum=0.735;QD=15.2;ReadPosRankSum=0.546;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265313 GT:AD:DP:GQ:PL 0/1:17,15:32:99:525,0,608
2 216262621 rs6725958 A C 384.73 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.327;DB;DP=30;Dels=0.0;FS=13.027;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.041;QD=12.82;ReadPosRankSum=-0.747;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265313 GT:AD:DP:GQ:PL 0/1:15,15:30:99:415,0,499
2 216262788 rs2577297 A G 42.05 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=14.02;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265313 GT:AD:DP:GQ:PL 0/1:1,2:3:32.73:72,0,33
2 216263926 rs2692224 C A 278.61 PASS AB=0.581;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.953;DB;DP=31;Dels=0.03;FS=2.614;HRun=2;HaplotypeScore=3.866;MQ=59.28;MQ0=0;MQRankSum=-0.529;QD=8.71;ReadPosRankSum=-1.037;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265313 GT:AD:DP:GQ:PL 0/1:18,13:31:99:309,0,628
2 216263938 rs3832178 C CT 536.56 PASS AB=0.698;AC=1;AF=0.50;AN=2;BaseQRankSum=2.91;DB;DP=37;FS=4.263;HRun=1;HaplotypeScore=144.8446;IndelType=I;MQ=59.38;MQ0=0;MQRankSum=-1.211;QD=14.5;ReadPosRankSum=-1.754;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265313 GT:AD:DP:GQ:PL 0/1:21,15:37:99:576,0,602
2 216272819 rs7570208 C G 780.05 PASS AB=0.508;AC=1;AF=0.50;AN=2;BaseQRankSum=0.879;DB;DP=59;Dels=0.0;FS=1.048;HRun=1;HaplotypeScore=1.9125;MQ=58.82;MQ0=0;MQRankSum=0.615;QD=13.22;ReadPosRankSum=1.159;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471193 GT:AD:DP:GQ:PL 0/1:30,29:59:99:810,0,853
2 216272900 rs2577301 T G 1538.70 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.4679;MQ=60.0;MQ0=0;QD=33.45;SNPEFF_AMINO_ACID_CHANGE=T817P;SNPEFF_CODON_CHANGE=Acg/Ccg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_216272831_216272920;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FN1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000265313 GT:AD:DP:GQ:PL 1/1:0,46:46:99:1572,120,0
2 216272907 rs7596677 A T 500.43 PASS AB=0.548;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.314;DB;DP=43;Dels=0.0;FS=9.689;HRun=0;HaplotypeScore=2.2566;MQ=60.0;MQ0=0;MQRankSum=-0.708;QD=11.64;ReadPosRankSum=0.227;SNPEFF_AMINO_ACID_CHANGE=P814;SNPEFF_CODON_CHANGE=ccT/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_216272831_216272920;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FN1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000265313 GT:AD:DP:GQ:PL 0/1:23,19:43:99:530,0,786
2 216283958 rs3796123 T A 348.73 PASS AB=0.684;AC=1;AF=0.50;AN=2;BaseQRankSum=0.568;DB;DP=38;Dels=0.0;FS=18.859;HRun=1;HaplotypeScore=0.9332;MQ=59.39;MQ0=0;MQRankSum=0.406;QD=9.18;ReadPosRankSum=1.087;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000496542 GT:AD:DP:GQ:PL 0/1:26,12:38:99:379,0,767
2 216287093 rs1250248 A G 452.34 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.7;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265313 GT:AD:DP:GQ:PL 1/1:0,12:12:36.11:485,36,0
2 216288841 rs56137176 T C 1031.65 PASS AB=0.387;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.366;DB;DP=62;Dels=0.0;FS=1.105;HRun=1;HaplotypeScore=2.6175;MQ=59.63;MQ0=0;MQRankSum=-0.007;QD=16.64;ReadPosRankSum=0.643;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265313 GT:AD:DP:GQ:PL 0/1:24,38:62:99:1062,0,762
2 216295312 rs1250241 T A 257.52 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.19;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265313 GT:AD:DP:GQ:PL 1/1:0,8:8:21.07:290,21,0
2 216299281 rs1250246 A C 288.04 PASS AB=0.182;AC=1;AF=0.50;AN=2;BaseQRankSum=0.589;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=55.66;MQ0=0;MQRankSum=-1.061;QD=26.19;ReadPosRankSum=-2.239;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265313 GT:AD:DP:GQ:PL 0/1:2,9:11:41.16:318,0,41
2 216299550 rs2577290 G A 354.78 PASS AB=0.597;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.979;DB;DP=77;Dels=0.0;FS=2.189;HRun=0;HaplotypeScore=0.9734;MQ=56.62;MQ0=0;MQRankSum=-0.395;QD=4.61;ReadPosRankSum=0.395;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265313 GT:AD:DP:GQ:PL 0/1:46,31:77:99:385,0,1461
2 216299551 rs2692234 C A 348.87 PASS AB=0.59;AC=1;AF=0.50;AN=2;BaseQRankSum=0.032;DB;DP=78;Dels=0.0;FS=2.216;HRun=3;HaplotypeScore=0.9734;MQ=56.66;MQ0=0;MQRankSum=-0.877;QD=4.47;ReadPosRankSum=0.159;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265313 GT:AD:DP:GQ:PL 0/1:46,32:78:99:379,0,1429
2 216299571 rs10648691 T TTAC 1577.67 PASS AB=0.711;AC=1;AF=0.50;AN=2;BaseQRankSum=5.716;DB;DP=59;FS=1.374;HRun=0;HaplotypeScore=449.8532;IndelType=I;MQ=55.75;MQ0=0;MQRankSum=-2.753;QD=26.74;ReadPosRankSum=-1.322;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265313 GT:AD:DP:GQ:PL 0/1:35,23:59:99:1617,0,1234
2 216299629 rs1250247 C G 1041.41 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.96;MQ0=0;QD=35.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265313 GT:AD:DP:GQ:PL 1/1:0,29:29:81.26:1074,81,0
2 216300482 rs1250259 T A 181.42 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.68;SNPEFF_AMINO_ACID_CHANGE=Q15L;SNPEFF_CODON_CHANGE=cAg/cTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_216300378_216300791;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FN1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000265313 GT:AD:DP:GQ:PL 1/1:0,8:8:15.05:214,15,0
2 216808152 rs6435927 C A 651.52 PASS AB=0.458;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.438;DB;DP=48;Dels=0.0;FS=6.261;HRun=0;HaplotypeScore=1.832;MQ=60.0;MQ0=0;MQRankSum=1.148;QD=13.57;ReadPosRankSum=0.403;SNPEFF_AMINO_ACID_CHANGE=R215I;SNPEFF_CODON_CHANGE=aGa/aTa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_216808121_216808180;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MREG;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000236976 GT:AD:DP:GQ:PL 0/1:22,26:48:99:682,0,693
2 216810612 rs74371935 C T 213.83 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=0.278;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.87;MQ0=0;MQRankSum=0.278;QD=19.44;ReadPosRankSum=-0.278;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MREG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236976 GT:AD:DP:GQ:PL 0/1:4,7:11:99:244,0,123
2 216811707 rs1344695 G T 341.74 PASS AB=0.536;AC=1;AF=0.50;AN=2;BaseQRankSum=3.179;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=-1.198;QD=12.21;ReadPosRankSum=-0.276;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MREG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236976 GT:AD:DP:GQ:PL 0/1:15,13:28:99:372,0,380
2 216861273 rs2303845 T C 494.49 PASS AB=0.484;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.364;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9867;MQ=60.0;MQ0=0;MQRankSum=1.917;QD=15.95;ReadPosRankSum=1.799;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MREG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236976 GT:AD:DP:GQ:PL 0/1:15,16:31:99:524,0,492
2 216903894 rs10197542 A C 245.95 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=3.366;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9998;MQ=60.0;MQ0=0;MQRankSum=-0.15;QD=16.4;ReadPosRankSum=1.096;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PECR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461330 GT:AD:DP:GQ:PL 0/1:7,8:15:99:276,0,237
2 216904019 rs9288513 A T 637.43 PASS AB=0.621;AC=1;AF=0.50;AN=2;BaseQRankSum=1.243;DB;DP=66;Dels=0.0;FS=2.221;HRun=2;HaplotypeScore=1.9747;MQ=60.0;MQ0=0;MQRankSum=0.808;QD=9.66;ReadPosRankSum=0.639;SNPEFF_AMINO_ACID_CHANGE=F297L;SNPEFF_CODON_CHANGE=ttT/ttA;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_216903132_216904083;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PECR;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000265322 GT:AD:DP:GQ:PL 0/1:41,25:66:99:667,0,1112
2 216923679 rs1429148 C T 557.17 PASS AB=0.593;AC=1;AF=0.50;AN=2;BaseQRankSum=0.625;DB;DP=54;Dels=0.0;FS=11.196;HRun=3;HaplotypeScore=0.9332;MQ=60.0;MQ0=0;MQRankSum=-0.977;QD=10.32;ReadPosRankSum=0.255;SNPEFF_AMINO_ACID_CHANGE=E149K;SNPEFF_CODON_CHANGE=Gag/Aag;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_216923618_216923699;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PECR;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000265322 GT:AD:DP:GQ:PL 0/1:32,22:54:99:587,0,990
2 216973869 rs6147172 GTGCGCATGCTCGGCGGGAATC G 2706.39 PASS AC=2;AF=1.00;AN=2;DB;DP=57;FS=0.0;HRun=0;HaplotypeScore=1043.7804;IndelType=D;MQ=60.81;MQ0=0;QD=47.48;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XRCC5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392132 GT:AD:DP:GQ:PL 1/1:22,35:57:96.32:2748,96,0
2 217012901 rs207906 A G 3907.78 PASS AC=2;AF=1.00;AN=2;DB;DP=128;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.64;MQ0=0;QD=30.53;SNPEFF_AMINO_ACID_CHANGE=T524;SNPEFF_CODON_CHANGE=acA/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_217012806_217012999;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XRCC5;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000392132 GT:AD:DP:GQ:PL 1/1:0,128:128:99:3908,316,0
2 217024697 rs111973269 CT C 283.30 PASS AB=0.655;AC=1;AF=0.50;AN=2;BaseQRankSum=2.792;DB;DP=36;FS=0.0;HRun=12;HaplotypeScore=114.8593;IndelType=D;MQ=59.96;MQ0=0;MQRankSum=0.475;QD=7.87;ReadPosRankSum=1.349;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XRCC5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392132 GT:AD:DP:GQ:PL 0/1:16,19:36:99:322,0,304
2 217055171 rs12470053 A G 170.66 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.13;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XRCC5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392132 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:203,15,0
2 217059428 rs3732023 G A 36.56 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.026;QD=9.14;ReadPosRankSum=-1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XRCC5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392132 GT:AD:DP:GQ:PL 0/1:2,2:4:53.59:67,0,54
2 217059809 rs3821102 G A 431.42 PASS AB=0.458;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.29;DB;DP=24;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.29;QD=17.98;ReadPosRankSum=0.348;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XRCC5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392132 GT:AD:DP:GQ:PL 0/1:11,13:24:99:461,0,369
2 217069151 rs1438162 A G 671.05 PASS AB=0.543;AC=1;AF=0.50;AN=2;BaseQRankSum=2.558;DB;DP=46;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.529;QD=14.59;ReadPosRankSum=1.081;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XRCC5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392132 GT:AD:DP:GQ:PL 0/1:25,21:46:99:701,0,821
2 217123958 rs169616 T C 520.81 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=1.624;DB;DP=34;Dels=0.0;FS=2.126;HRun=1;HaplotypeScore=0.9832;MQ=59.32;MQ0=0;MQRankSum=1.397;QD=15.32;ReadPosRankSum=1.737;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MARCH4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273067 GT:AD:DP:GQ:PL 0/1:16,18:34:99:551,0,466
2 217148417 rs876771 C A 503.19 PASS AB=0.414;AC=1;AF=0.50;AN=2;BaseQRankSum=1.616;DB;DP=29;Dels=0.0;FS=1.73;HRun=0;HaplotypeScore=0.0;MQ=59.2;MQ0=0;MQRankSum=2.148;QD=17.35;ReadPosRankSum=-0.863;SNPEFF_AMINO_ACID_CHANGE=S184;SNPEFF_CODON_CHANGE=tcG/tcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_217148297_217148452;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MARCH4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000273067 GT:AD:DP:GQ:PL 0/1:12,17:29:99:533,0,306
2 217280261 rs33949990 GT G 275.08 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.193;DB;DP=48;FS=0.0;HRun=15;HaplotypeScore=209.8388;IndelType=D;MQ=56.55;MQ0=0;MQRankSum=0.578;QD=5.73;ReadPosRankSum=0.578;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMARCAL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000425815 GT:AD:DP:GQ:PL 1/1:23,14:48:42.75:317,43,0
2 217280876 rs71577872 T C 400.14 PASS AB=0.458;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.521;DB;DP=24;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=16.67;ReadPosRankSum=0.116;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMARCAL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000425815 GT:AD:DP:GQ:PL 0/1:11,13:24:99:430,0,387
2 217281150 rs3214962 AC A 247.65 PASS AC=2;AF=1.00;AN=2;DB;DP=13;FS=0.0;HRun=8;HaplotypeScore=31.2362;IndelType=D;MQ=61.64;MQ0=0;QD=19.05;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMARCAL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000425815 GT:AD:DP:GQ:PL 1/1:3,10:13:30.05:290,30,0
2 217311315 rs72948623 A G 1686.86 PASS AB=0.496;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.971;DB;DP=117;Dels=0.0;FS=0.692;HRun=0;HaplotypeScore=0.0;MQ=59.68;MQ0=0;MQRankSum=-0.49;QD=14.42;ReadPosRankSum=1.239;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMARCAL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357276 GT:AD:DP:GQ:PL 0/1:58,59:117:99:1717,0,1530
2 217315416 rs66931264 A G 43.97 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=14.66;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMARCAL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357276 GT:AD:DP:GQ:PL 0/1:1,2:3:27.95:74,0,28
2 217315787 rs2066527 T C 316.32 PASS AB=0.536;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.428;DB;DP=28;Dels=0.0;FS=8.302;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.507;QD=11.3;ReadPosRankSum=1.336;SNPEFF_AMINO_ACID_CHANGE=T532;SNPEFF_CODON_CHANGE=acT/acC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_217315569_217315787;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMARCAL1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000392128 GT:AD:DP:GQ:PL 0/1:15,13:28:99:346,0,467
2 217343136 rs5838586 G GC 164.48 PASS AB=0.727;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.308;DB;DP=16;FS=0.0;HRun=2;HaplotypeScore=46.8846;IndelType=I;MQ=59.24;MQ0=0;MQRankSum=0.597;QD=10.28;ReadPosRankSum=-1.03;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMARCAL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357276 GT:AD:DP:GQ:PL 0/1:10,6:16:99:204,0,313
2 217347428 rs71579835 C T 2670.07 PASS AB=0.466;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.121;DB;DP=189;Dels=0.0;FS=4.389;HRun=2;HaplotypeScore=2.6528;MQ=59.78;MQ0=0;MQRankSum=0.439;QD=14.13;ReadPosRankSum=0.874;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMARCAL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357276 GT:AD:DP:GQ:PL 0/1:88,101:189:99:2700,0,2722
2 217364539 rs284572 C T 120.95 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=55.16;MQ0=0;QD=30.24;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RPL37A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000446558 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:153,12,0
2 217469796 rs10932667 A G 356.22 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.87;MQ0=0;QD=32.38;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=antisense;SNPEFF_GENE_NAME=AC073321.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000449783 GT:AD:DP:GQ:PL 1/1:0,11:11:30.09:389,30,0
2 217469833 rs10932668 A G 79.40 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=19.85;ReadPosRankSum=-0.727;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=antisense;SNPEFF_GENE_NAME=AC073321.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000449783 GT:AD:DP:GQ:PL 0/1:1,3:4:24.94:109,0,25
2 217475535 rs17495945 A G 880.36 PASS AB=0.53;AC=1;AF=0.50;AN=2;BaseQRankSum=1.618;DB;DP=66;Dels=0.0;FS=6.713;HRun=0;HaplotypeScore=0.8941;MQ=59.66;MQ0=0;MQRankSum=-0.742;QD=13.14;ReadPosRankSum=0.405;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AC073321.4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000441803 GT:AD:DP:GQ:PL 0/1:35,31:66:99:910,0,1061
2 217541582 rs2160549 T C 3008.25 PASS AC=2;AF=1.00;AN=2;DB;DP=96;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.5274;MQ=59.76;MQ0=0;QD=31.34;SNPEFF_AMINO_ACID_CHANGE=K237;SNPEFF_CODON_CHANGE=aaA/aaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_217536828_217541605;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IGFBP5;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000233813 GT:AD:DP:GQ:PL 1/1:0,95:96:99:3041,229,0
2 218604247 rs4672848 A C 131.15 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.21;MQ0=0;QD=26.23;SNPEFF_AMINO_ACID_CHANGE=F55C;SNPEFF_CODON_CHANGE=tTc/tGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_218604210_218604298;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=DIRC3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000423123 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:164,12,0
2 218604356 rs4294980 G A 81.41 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=51.77;MQ0=0;QD=27.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=DIRC3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000423123 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:113,9,0
2 218673147 rs35136714 T C 151.49 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=1.652;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.9;MQ0=0;MQRankSum=0.876;QD=16.83;ReadPosRankSum=1.307;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000480416 GT:AD:DP:GQ:PL 0/1:4,5:9:99:181,0,130
2 218673230 rs112279658 G GCA 983.95 PASS AB=0.717;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.637;DB;DP=65;FS=4.108;HRun=0;HaplotypeScore=238.6687;IndelType=I;MQ=59.22;MQ0=0;MQRankSum=-0.941;QD=14.91;ReadPosRankSum=0.072;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000480416 GT:AD:DP:GQ:PL 0/1:37,26:65:99:1023,0,877
2 218674353 rs13428124 T C 50.05 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=51.77;MQ0=0;MQRankSum=0.736;QD=16.68;ReadPosRankSum=-0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000480416 GT:AD:DP:GQ:PL 1/1:1,2:3:6.02:81,6,0
2 218674484 rs1035671 C T 43.23 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=0.296;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.66;MQ0=0;MQRankSum=-0.546;QD=4.32;ReadPosRankSum=-0.296;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000495556 GT:AD:DP:GQ:PL 0/1:7,3:10:73.23:73,0,253
2 218674697 rs918949 C T 660.38 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.89;MQ0=0;QD=31.45;SNPEFF_AMINO_ACID_CHANGE=V1583I;SNPEFF_CODON_CHANGE=Gtc/Atc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_218674546_218674714;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNS1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000430930 GT:AD:DP:GQ:PL 1/1:0,21:21:51.17:693,51,0
2 218675144 rs918950 G A 463.41 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.1;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000495556 GT:AD:DP:GQ:PL 1/1:0,14:14:39.11:496,39,0
2 218675199 rs1035672 G A 92.72 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.91;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000495556 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:125,9,0
2 218676970 rs2288162 A C 90.23 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.08;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000495556 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:122,9,0
2 218677279 rs2288163 C T 40.95 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=13.65;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000495556 GT:AD:DP:GQ:PL 0/1:1,2:3:23.47:71,0,23
2 218678582 rs7559273 C T 191.55 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=1.589;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.067;QD=23.94;ReadPosRankSum=-0.572;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000171887 GT:AD:DP:GQ:PL 0/1:2,6:8:41.55:222,0,42
2 218682474 rs12694422 A G 799.33 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.07;MQ0=0;QD=31.97;SNPEFF_AMINO_ACID_CHANGE=S1402;SNPEFF_CODON_CHANGE=agT/agC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_218682413_218683482;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNS1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000430930 GT:AD:DP:GQ:PL 1/1:0,25:25:69.17:832,69,0
2 218682771 rs3796026 A G 220.98 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.57;SNPEFF_AMINO_ACID_CHANGE=G1303;SNPEFF_CODON_CHANGE=ggT/ggC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_218682413_218683482;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNS1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000430930 GT:AD:DP:GQ:PL 1/1:0,7:7:21.06:254,21,0
2 218683154 rs2571445 A G 731.10 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.03;FS=0.0;HRun=1;HaplotypeScore=3.5941;MQ=55.9;MQ0=0;QD=25.21;SNPEFF_AMINO_ACID_CHANGE=W1176R;SNPEFF_CODON_CHANGE=Tgg/Cgg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_218682413_218683482;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNS1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000430930 GT:AD:DP:GQ:PL 1/1:0,28:28:60.18:764,60,0
2 218683257 rs2571442 A G 717.50 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.05;MQ0=0;QD=29.9;SNPEFF_AMINO_ACID_CHANGE=A1141;SNPEFF_CODON_CHANGE=gcT/gcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_218682413_218683482;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNS1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000430930 GT:AD:DP:GQ:PL 1/1:0,24:24:57.18:751,57,0
2 218683368 rs34144104 C T 892.05 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.07;MQ0=0;QD=35.68;SNPEFF_AMINO_ACID_CHANGE=P1104;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_218682413_218683482;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNS1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000430930 GT:AD:DP:GQ:PL 1/1:0,25:25:72.21:925,72,0
2 218694510 rs55877504 CT C 1544.26 PASS AC=2;AF=1.00;AN=2;DB;DP=43;FS=0.0;HRun=3;HaplotypeScore=383.5683;IndelType=D;MQ=60.75;MQ0=0;QD=35.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000171887 GT:AD:DP:GQ:PL 1/1:0,43:43:99:1586,129,0
2 218694551 rs16858298 A G 1388.03 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.48;MQ0=0;QD=30.85;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000171887 GT:AD:DP:GQ:PL 1/1:0,45:45:99:1421,108,0
2 218694962 rs10165160 C G 206.18 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000171887 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:239,18,0
2 218712918 rs3796031 C T 173.56 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=2.298;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.53;QD=11.57;ReadPosRankSum=-0.059;SNPEFF_AMINO_ACID_CHANGE=S649;SNPEFF_CODON_CHANGE=tcG/tcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_218712233_218713810;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNS1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000171887 GT:AD:DP:GQ:PL 0/1:9,6:15:99:204,0,246
2 218745685 rs10199795 G A 1137.77 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.5592;MQ=60.0;MQ0=0;QD=32.51;SNPEFF_AMINO_ACID_CHANGE=S330;SNPEFF_CODON_CHANGE=tcC/tcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_218745621_218745737;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNS1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000171887 GT:AD:DP:GQ:PL 1/1:0,35:35:87.28:1171,87,0
2 218747073 rs11680854 A C 351.87 PASS AB=0.657;AC=1;AF=0.50;AN=2;BaseQRankSum=2.485;DB;DP=35;Dels=0.0;FS=3.22;HRun=0;HaplotypeScore=0.0;MQ=59.34;MQ0=0;MQRankSum=1.373;QD=10.05;ReadPosRankSum=1.303;SNPEFF_AMINO_ACID_CHANGE=I311M;SNPEFF_CODON_CHANGE=atT/atG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_218747069_218747134;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNS1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000171887 GT:AD:DP:GQ:PL 0/1:23,12:35:99:382,0,732
2 218801767 rs4674232 C T 812.47 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.02;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_2_218801698_218801885;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNS1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000423413 GT:AD:DP:GQ:PL 1/1:0,27:28:63.19:845,63,0
2 218867708 rs13382750 C A 40.85 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.358;QD=8.17;ReadPosRankSum=0.358;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_2_218867563_218867718;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000446903 GT:AD:DP:GQ:PL 0/1:3,2:5:59.52:71,0,60
2 218925149 rs6758271 G A 774.52 PASS AB=0.348;AC=1;AF=0.50;AN=2;BaseQRankSum=2.41;DB;DP=46;Dels=0.0;FS=4.443;HRun=0;HaplotypeScore=0.0;MQ=55.82;MQ0=0;MQRankSum=0.219;QD=16.84;ReadPosRankSum=-0.657;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RUFY4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000457754 GT:AD:DP:GQ:PL 0/1:16,30:46:99:805,0,461
2 218935299 rs13385042 T C 214.18 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.299;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.299;QD=15.3;ReadPosRankSum=-0.421;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_2_218935223_218935374;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RUFY4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000374155 GT:AD:DP:GQ:PL 0/1:7,7:14:99:244,0,212
2 218937025 . A G 397.90 PASS AB=0.541;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.658;DP=37;Dels=0.0;FS=6.941;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.875;QD=10.75;ReadPosRankSum=-1.417;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RUFY4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463618 GT:AD:DP:GQ:PL 0/1:20,17:37:99:428,0,706
2 218939630 rs10932744 C T 36.33 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.026;QD=9.08;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RUFY4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463618 GT:AD:DP:GQ:PL 0/1:2,2:4:66.32:66,0,70
2 218947664 rs149826043 TA T 52.24 PASS AC=2;AF=1.00;AN=2;DB;DP=6;FS=0.0;HRun=1;HaplotypeScore=205.9618;IndelType=D;MQ=29.0;MQ0=0;QD=8.71;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RUFY4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344321 GT:AD:DP:GQ:PL 1/1:0,6:6:15.09:94,15,0
2 219000310 rs2230054 C T 2173.48 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=55.22;MQ0=0;QD=32.44;SNPEFF_AMINO_ACID_CHANGE=L262;SNPEFF_CODON_CHANGE=ctC/ctT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_218999500_219001976;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CXCR2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000318507 GT:AD:DP:GQ:PL 1/1:0,67:67:99:2206,172,0
2 219000734 rs1126579 T C 927.34 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.05;MQ0=0;QD=38.64;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CXCR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000415392 GT:AD:DP:GQ:PL 1/1:0,24:24:72.23:960,72,0
2 219028932 rs16858808 G A 1282.01 PASS AB=0.453;AC=1;AF=0.50;AN=2;BaseQRankSum=4.735;DB;DP=75;Dels=0.0;FS=2.285;HRun=1;HaplotypeScore=4.7013;MQ=59.44;MQ0=0;MQRankSum=0.038;QD=17.09;ReadPosRankSum=1.003;SNPEFF_AMINO_ACID_CHANGE=R279C;SNPEFF_CODON_CHANGE=Cgt/Tgt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_219028493_219029523;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CXCR1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000421691 GT:AD:DP:GQ:PL 0/1:34,41:75:99:1312,0,956
2 219029843 rs16858811 A C 1712.99 PASS AB=0.495;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.684;DB;DP=107;Dels=0.0;FS=9.304;HRun=1;HaplotypeScore=0.8941;MQ=59.26;MQ0=0;MQRankSum=0.13;QD=16.01;ReadPosRankSum=-0.483;SNPEFF_AMINO_ACID_CHANGE=M31R;SNPEFF_CODON_CHANGE=aTg/aGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_219027568_219029967;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CXCR1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000295683 GT:AD:DP:GQ:PL 0/1:53,54:107:99:1743,0,1678
2 219030077 rs16858816 G A 112.51 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.38;QD=18.75;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CXCR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295683 GT:AD:DP:GQ:PL 0/1:2,4:6:65.40:142,0,65
2 219093278 rs60528331 A G 40.14 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARPC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295685 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:71,6,0
2 219099260 rs1018288 G C 164.27 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.85;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARPC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420104 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:197,15,0
2 219103313 rs34654904 C CT 94.41 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.202;DB;DP=33;FS=0.0;HRun=22;HaplotypeScore=311.5079;IndelType=I;MQ=40.95;MQ0=0;MQRankSum=-1.626;QD=2.86;ReadPosRankSum=0.495;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARPC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420104 GT:AD:DP:GQ:PL 0/1:18,6:33:6.93:133,0,7
2 219117605 rs114878161 A T 88.72 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.037;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.597;QD=8.07;ReadPosRankSum=-1.034;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARPC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295685 GT:AD:DP:GQ:PL 0/1:7,4:11:99:119,0,254
2 219128506 rs2292549 C T 411.21 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=3.641;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.575;QD=15.82;ReadPosRankSum=1.779;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AAMP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000248450 GT:AD:DP:GQ:PL 0/1:12,14:26:99:441,0,256
2 219128515 rs77115694 C T 277.75 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=2.605;DB;DP=22;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.813;QD=12.62;ReadPosRankSum=-0.495;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AAMP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000248450 GT:AD:DP:GQ:PL 0/1:12,10:22:99:308,0,335
2 219129060 rs2382816 A G 197.35 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.19;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AAMP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000447885 GT:AD:DP:GQ:PL 1/1:0,7:7:18.06:230,18,0
2 219129905 rs115942379 G A 457.74 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=0.603;DB;DP=30;Dels=0.0;FS=6.429;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.229;QD=15.26;ReadPosRankSum=1.06;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AAMP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000447885 GT:AD:DP:GQ:PL 0/1:16,14:30:99:488,0,475
2 219130514 rs1079204 G A 140.59 PASS AB=0.76;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.033;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.3;QD=5.62;ReadPosRankSum=-0.5;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AAMP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000447885 GT:AD:DP:GQ:PL 0/1:19,6:25:99:171,0,602
2 219132381 rs74349235 C T 313.08 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.22;DB;DP=28;Dels=0.0;FS=10.392;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.073;QD=11.18;ReadPosRankSum=0.22;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPBAR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479077 GT:AD:DP:GQ:PL 0/1:16,12:28:99:343,0,433
2 219134928 rs1877714 A G 282.82 PASS AB=0.474;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.873;MQ=58.78;MQ0=0;MQRankSum=-1.325;QD=14.89;ReadPosRankSum=-0.618;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMBIM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258412 GT:AD:DP:GQ:PL 0/1:9,10:19:99:313,0,317
2 219139573 rs6734242 G A 50.63 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.32;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PNKD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000248451 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
2 219140288 rs2292550 G C 650.32 PASS AB=0.351;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.789;DB;DP=37;Dels=0.0;FS=8.302;HRun=1;HaplotypeScore=0.9973;MQ=60.0;MQ0=0;MQRankSum=-2.399;QD=17.58;ReadPosRankSum=-0.419;SNPEFF_AMINO_ACID_CHANGE=P108;SNPEFF_CODON_CHANGE=ccC/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_219139729_219140344;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMBIM1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000445635 GT:AD:DP:GQ:PL 0/1:13,24:37:99:680,0,368
2 219142023 rs2168703 G A 515.29 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.55;MQ0=0;QD=32.21;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PNKD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000248451 GT:AD:DP:GQ:PL 1/1:0,16:16:45.12:548,45,0
2 219142491 rs2271543 C T 288.78 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.858;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.194;QD=11.55;ReadPosRankSum=0.25;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PNKD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000248451 GT:AD:DP:GQ:PL 0/1:15,10:25:99:319,0,462
2 219142594 rs3817266 C T 494.67 PASS AB=0.32;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.786;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.07;MQ0=0;MQRankSum=0.845;QD=19.79;ReadPosRankSum=-0.087;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PNKD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000248451 GT:AD:DP:GQ:PL 0/1:8,17:25:99:525,0,245
2 219142773 rs6707559 C T 294.62 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=3.243;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.111;QD=16.37;ReadPosRankSum=0.222;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMBIM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000413976 GT:AD:DP:GQ:PL 0/1:8,10:18:99:325,0,198
2 219143229 rs2292551 G A 1215.83 PASS AB=0.494;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.13;DB;DP=87;Dels=0.0;FS=4.246;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=0.812;QD=13.98;ReadPosRankSum=0.458;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMBIM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000413976 GT:AD:DP:GQ:PL 0/1:43,44:87:99:1246,0,1211
2 219143327 rs63368160 T C 645.47 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.692;DB;DP=44;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.255;QD=14.67;ReadPosRankSum=1.348;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMBIM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000413976 GT:AD:DP:GQ:PL 0/1:22,22:44:99:675,0,590
2 219143923 rs41272681 A T 268.37 PASS AB=0.438;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.059;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.55;MQ0=0;MQRankSum=-0.423;QD=16.77;ReadPosRankSum=0.212;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMBIM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000413976 GT:AD:DP:GQ:PL 0/1:7,9:16:99:298,0,222
2 219144089 rs12987180 G A 306.87 PASS AB=0.607;AC=1;AF=0.50;AN=2;BaseQRankSum=1.364;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.17;MQ0=0;MQRankSum=0.047;QD=10.96;ReadPosRankSum=-1.27;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMBIM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000413976 GT:AD:DP:GQ:PL 0/1:17,11:28:99:337,0,476
2 219144149 rs12987219 G A 103.66 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.408;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.87;MQ0=0;MQRankSum=-0.143;QD=9.42;ReadPosRankSum=0.717;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMBIM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000413976 GT:AD:DP:GQ:PL 0/1:6,5:11:99:134,0,219
2 219144815 rs2045435 T C 1950.72 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.679;DB;DP=66;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.359;QD=29.56;ReadPosRankSum=0.133;SNPEFF_AMINO_ACID_CHANGE=A17;SNPEFF_CODON_CHANGE=gcA/gcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_219144749_219144849;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMBIM1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000543441 GT:AD:DP:GQ:PL 1/1:1,65:66:99:1984,156,0
2 219205471 rs34014804 G A 1267.59 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.83;DB;DP=75;Dels=0.0;FS=1.976;HRun=0;HaplotypeScore=1.6988;MQ=59.07;MQ0=0;MQRankSum=0.133;QD=16.9;ReadPosRankSum=-0.288;SNPEFF_AMINO_ACID_CHANGE=G102;SNPEFF_CODON_CHANGE=ggG/ggA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_219205451_219205509;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PNKD;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000436005 GT:AD:DP:GQ:PL 0/1:30,45:75:99:1298,0,928
2 219209393 rs1350336 A G 1513.74 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.2;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PNKD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000483797 GT:AD:DP:GQ:PL 1/1:0,43:43:99:1547,120,0
2 219209796 rs921970 C A 81.21 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.3;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PNKD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000436005 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:113,9,0
2 219221846 rs4324314 G A 547.58 PASS AB=0.604;AC=1;AF=0.50;AN=2;BaseQRankSum=1.464;DB;DP=53;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7273;MQ=59.56;MQ0=0;MQRankSum=0.227;QD=10.33;ReadPosRankSum=1.573;SNPEFF_AMINO_ACID_CHANGE=S18;SNPEFF_CODON_CHANGE=tcG/tcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_219221818_219221910;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf62;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000289388 GT:AD:DP:GQ:PL 0/1:32,21:53:99:578,0,874
2 219225162 rs4674296 T C 201.02 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.04;MQ0=0;QD=33.5;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf62;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000480532 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:234,18,0
2 219229641 rs11696005 T C 148.27 PASS AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=24.71;ReadPosRankSum=-0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf62;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000495773 GT:AD:DP:GQ:PL 0/1:1,5:6:24.17:178,0,24
2 219231807 rs3845833 C T 664.60 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.65;SNPEFF_AMINO_ACID_CHANGE=P272;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_219231747_219231823;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf62;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000289388 GT:AD:DP:GQ:PL 1/1:0,21:21:51.16:698,51,0
2 219232354 rs7608923 C A 327.18 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=2.983;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.83;MQ0=0;MQRankSum=0.922;QD=20.45;ReadPosRankSum=0.705;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf62;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289388 GT:AD:DP:GQ:PL 0/1:6,10:16:99:357,0,154
2 219249013 rs2276631 C T 1686.15 PASS AB=0.443;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.159;DB;DP=106;Dels=0.0;FS=0.733;HRun=2;HaplotypeScore=2.3548;MQ=59.35;MQ0=0;MQRankSum=0.41;QD=15.91;ReadPosRankSum=0.468;SNPEFF_AMINO_ACID_CHANGE=F66;SNPEFF_CODON_CHANGE=ttC/ttT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_219248966_219249088;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SLC11A1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000233202 GT:AD:DP:GQ:PL 0/1:47,59:106:99:1716,0,1334
2 219249771 rs6734861 C G 130.38 PASS AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=21.73;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SLC11A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233202 GT:AD:DP:GQ:PL 0/1:1,5:6:19.74:160,0,20
2 219250003 rs3731865 G C 538.37 PASS AB=0.405;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.108;DB;DP=37;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.5;MQ0=0;MQRankSum=-0.696;QD=14.55;ReadPosRankSum=0.665;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SLC11A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233202 GT:AD:DP:GQ:PL 0/1:15,22:37:99:568,0,476
2 219252377 rs2290708 C T 1739.42 PASS AB=0.512;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.39;DB;DP=125;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.3893;MQ=59.63;MQ0=0;MQRankSum=1.488;QD=13.92;ReadPosRankSum=0.433;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SLC11A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460592 GT:AD:DP:GQ:PL 0/1:64,61:125:99:1769,0,2041
2 219254622 rs2695342 A G 949.65 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.17;MQ0=0;QD=33.92;SNPEFF_AMINO_ACID_CHANGE=A157;SNPEFF_CODON_CHANGE=gcA/gcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_219254593_219254751;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SLC11A1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000539932 GT:AD:DP:GQ:PL 1/1:0,28:28:81.24:983,81,0
2 219254842 rs3816560 T C 61.61 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.219;DB;DP=9;Dels=0.0;FS=3.522;HRun=3;HaplotypeScore=0.0;MQ=57.9;MQ0=0;MQRankSum=0.361;QD=6.85;ReadPosRankSum=-0.876;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SLC11A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460592 GT:AD:DP:GQ:PL 0/1:5,4:9:91.61:92,0,190
2 219257688 rs2045433 T C 770.09 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.62;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SLC11A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469449 GT:AD:DP:GQ:PL 1/1:0,25:26:60.20:803,60,0
2 219265094 rs2579958 T C 126.05 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=62.65;MQ0=0;QD=31.51;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CTDSP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000492545 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:159,12,0
2 219265136 rs72533508 T TC 182.90 PASS AC=2;AF=1.00;AN=2;DB;DP=5;FS=0.0;HRun=1;HaplotypeScore=13.5204;IndelType=I;MQ=64.19;MQ0=0;QD=36.58;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CTDSP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000492545 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:225,15,0
2 219266108 rs2607726 C G 245.12 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.02;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CTDSP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000492545 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:278,21,0
2 219266204 rs2252235 T C 322.61 PASS AB=0.593;AC=1;AF=0.50;AN=2;BaseQRankSum=1.349;DB;DP=27;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.09;QD=11.95;ReadPosRankSum=-1.713;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CTDSP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000492545 GT:AD:DP:GQ:PL 0/1:16,11:27:99:353,0,470
2 219266423 rs2227251 C A 209.28 PASS AB=0.588;AC=1;AF=0.50;AN=2;BaseQRankSum=3.367;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9989;MQ=60.0;MQ0=0;MQRankSum=0.049;QD=12.31;ReadPosRankSum=1.513;SNPEFF_AMINO_ACID_CHANGE=G68;SNPEFF_CODON_CHANGE=ggC/ggA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_219266287_219266435;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CTDSP1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000273062 GT:AD:DP:GQ:PL 0/1:10,7:17:99:239,0,264
2 219288382 rs4672893 A G 88.62 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.16;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VIL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000248444 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:121,9,0
2 219295835 rs4674307 G A 318.83 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.43;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VIL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000454069 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:352,27,0
2 219305404 rs2305833 G C 991.32 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.39;MQ0=0;QD=34.18;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VIL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000419986 GT:AD:DP:GQ:PL 1/1:0,29:29:81.22:1024,81,0
2 219319657 rs6436058 A G 1632.94 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.66;SNPEFF_AMINO_ACID_CHANGE=L885S;SNPEFF_CODON_CHANGE=tTg/tCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_219318224_219319740;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP37;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000415516 GT:AD:DP:GQ:PL 1/1:0,50:50:99:1666,132,0
2 219320207 rs3932856 C A 576.10 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=53.09;MQ0=0;QD=36.01;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VIL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000248444 GT:AD:DP:GQ:PL 1/1:0,16:16:48.15:609,48,0
2 219320233 rs71880343 GAAA G 403.09 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.369;DB;DP=29;FS=0.0;HRun=18;HaplotypeScore=260.8252;IndelType=D;MQ=50.48;MQ0=0;MQRankSum=0.822;QD=13.9;ReadPosRankSum=0.456;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VIL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000248444 GT:AD:DP:GQ:PL 1/1:10,15:29:30.83:445,31,0
2 219320496 rs62183667 C T 345.58 PASS AB=0.435;AC=1;AF=0.50;AN=2;BaseQRankSum=3.566;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.06;MQ0=0;MQRankSum=1.333;QD=15.03;ReadPosRankSum=-1.271;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VIL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000248444 GT:AD:DP:GQ:PL 0/1:10,13:23:99:376,0,277
2 219321692 rs67349270 CA C 81.06 PASS AC=2;AF=1.00;AN=2;DB;DP=7;FS=0.0;HRun=11;HaplotypeScore=22.1588;IndelType=D;MQ=63.02;MQ0=0;QD=11.58;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VIL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000248444 GT:AD:DP:GQ:PL 1/1:2,5:7:14.98:123,15,0
2 219324317 rs11890042 G T 89.39 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=10;Dels=0.0;FS=0.0;HRun=8;HaplotypeScore=2.655;MQ=57.66;MQ0=0;MQRankSum=0.633;QD=8.94;ReadPosRankSum=-0.365;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP37;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258399 GT:AD:DP:GQ:PL 0/1:4,6:10:99:119,0,135
2 219339238 rs113268774 C G 242.39 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.225;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.965;QD=17.31;ReadPosRankSum=-1.222;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP37;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475553 GT:AD:DP:GQ:PL 0/1:6,8:14:99:272,0,198
2 219339283 rs549026 T C 1258.03 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.95;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP37;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475553 GT:AD:DP:GQ:PL 1/1:0,35:36:96.30:1291,96,0
2 219350358 rs10541464 CAAAA C 219.15 PASS AB=0.614;AC=1;AF=0.50;AN=2;BaseQRankSum=0.099;DB;DP=51;FS=7.659;HRun=24;HaplotypeScore=412.0158;IndelType=D;MQ=44.14;MQ0=0;MQRankSum=0.033;QD=4.3;ReadPosRankSum=1.813;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP37;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258399 GT:AD:DP:GQ:PL 0/1:19,11:51:99:258,0,139
2 219353195 rs10932782 C T 2350.49 PASS AC=2;AF=1.00;AN=2;DB;DP=70;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=59.67;MQ0=0;QD=33.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP37;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258399 GT:AD:DP:GQ:PL 1/1:0,70:70:99:2383,175,0
2 219375018 rs514356 C T 217.11 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.02;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP37;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258399 GT:AD:DP:GQ:PL 1/1:0,7:7:18.06:250,18,0
2 219411203 rs514799 A G 87.53 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.44;MQ0=0;QD=29.18;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP37;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258399 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:120,9,0
2 219418150 rs62193785 A T 43.44 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=14.48;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP37;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258399 GT:AD:DP:GQ:PL 0/1:1,2:3:33.62:73,0,34
2 219423605 rs642520 G A 39.17 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=19.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP37;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258399 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:70,6,0
2 219445165 rs589967 T C 204.99 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.17;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RQCD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273064 GT:AD:DP:GQ:PL 1/1:0,6:6:18.05:238,18,0
2 219447911 . AACGTTT A 625.78 PASS AB=0.903;AC=1;AF=0.50;AN=2;BaseQRankSum=0.473;DP=56;FS=10.955;HRun=0;HaplotypeScore=656.5169;IndelType=D;MQ=51.92;MQ0=0;MQRankSum=-1.326;QD=11.17;ReadPosRankSum=-1.233;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RQCD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000433439 GT:AD:DP:GQ:PL 0/1:50,5:56:99:665,0,798
2 219447948 . GTGTGTGTGTCTCTCTCTCTCTCTCTCTCTCTC G 847.91 PASS AB=0.756;AC=1;AF=0.50;AN=2;BaseQRankSum=3.962;DP=31;FS=0.0;HRun=0;HaplotypeScore=913.387;IndelType=D;MQ=42.81;MQ0=0;MQRankSum=2.994;QD=27.35;ReadPosRankSum=0.276;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RQCD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000433439 GT:AD:DP:GQ:PL 0/1:21,10:31:99:887,0,237
2 219458656 rs538483 T C 274.69 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.39;MQ0=0;QD=30.52;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RQCD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295701 GT:AD:DP:GQ:PL 1/1:0,9:9:24.08:308,24,0
2 219480535 rs142863279 G A 589.51 PASS AB=0.463;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.15;DB;DP=41;Dels=0.0;FS=6.989;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.19;QD=14.38;ReadPosRankSum=-0.876;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLCD4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000251959 GT:AD:DP:GQ:PL 0/1:19,22:41:99:620,0,668
2 219480804 rs485765 G C 492.77 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.95;MQ0=0;QD=22.4;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLCD4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000251959 GT:AD:DP:GQ:PL 1/1:0,22:22:45.10:526,45,0
2 219487299 rs1850169 A T 569.34 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=7;HaplotypeScore=0.0;MQ=59.36;MQ0=0;QD=19.63;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLCD4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000415854 GT:AD:DP:GQ:PL 1/1:0,29:29:60.11:602,60,0
2 219492924 rs612874 T C 4425.33 PASS AC=2;AF=1.00;AN=2;DB;DP=147;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.5584;MQ=59.72;MQ0=0;QD=30.1;SNPEFF_AMINO_ACID_CHANGE=C315;SNPEFF_CODON_CHANGE=tgT/tgC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_219492752_219492953;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLCD4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000251959 GT:AD:DP:GQ:PL 1/1:0,147:147:99:4425,343,0
2 219492952 rs61733653 C T 1586.63 PASS AB=0.537;AC=1;AF=0.50;AN=2;BaseQRankSum=4.88;DB;DP=123;Dels=0.0;FS=0.71;HRun=0;HaplotypeScore=1.5661;MQ=60.0;MQ0=0;MQRankSum=-0.487;QD=12.9;ReadPosRankSum=-0.072;SNPEFF_AMINO_ACID_CHANGE=R325W;SNPEFF_CODON_CHANGE=Cgg/Tgg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_219492752_219492953;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLCD4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000251959 GT:AD:DP:GQ:PL 0/1:66,57:123:99:1617,0,1762
2 219498759 rs7574429 T G 156.83 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.37;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLCD4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000457426 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:190,15,0
2 219501133 rs2278530 G A 5918.90 PASS AC=2;AF=1.00;AN=2;DB;DP=189;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.6281;MQ=59.4;MQ0=0;QD=31.32;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLCD4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000457426 GT:AD:DP:GQ:PL 1/1:0,185:189:99:5919,475,0
2 219501328 rs1055816 G A 622.35 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9979;MQ=60.0;MQ0=0;QD=31.12;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLCD4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000457426 GT:AD:DP:GQ:PL 1/1:0,20:20:51.12:655,51,0
2 219508988 rs3770214 T C 2953.83 PASS AC=2;AF=1.00;AN=2;DB;DP=83;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9983;MQ=59.72;MQ0=0;QD=35.59;SNPEFF_AMINO_ACID_CHANGE=S751G;SNPEFF_CODON_CHANGE=Agt/Ggt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_219506751_219509787;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF142;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000411696 GT:AD:DP:GQ:PL 1/1:0,83:83:99:2987,229,0
2 219509618 rs2230115 C A 685.62 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=51.43;MQ0=0;QD=26.37;SNPEFF_AMINO_ACID_CHANGE=A541S;SNPEFF_CODON_CHANGE=Gcc/Tcc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_219506751_219509787;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF142;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000411696 GT:AD:DP:GQ:PL 1/1:0,23:26:57.18:719,57,0
2 219510768 rs4674320 A G 291.77 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.52;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF142;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000411696 GT:AD:DP:GQ:PL 1/1:0,11:11:27.08:325,27,0
2 219517088 rs4674323 T C 957.09 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.23;MQ0=0;QD=31.9;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF142;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000432460 GT:AD:DP:GQ:PL 1/1:0,30:30:75.23:990,75,0
2 219525582 rs6722185 A G 46.38 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=15.46;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BCS1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000490188 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:78,6,0
2 219529924 rs112523387 T G 60.41 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=1.395;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.788;QD=3.78;ReadPosRankSum=-1.152;SNPEFF_AMINO_ACID_CHANGE=Y207S;SNPEFF_CODON_CHANGE=tAt/tCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_219529878_219529970;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RNF25;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000295704 GT:AD:DP:GQ:PL 0/1:12,4:16:90.41:90,0,372
2 219602499 rs3731877 G C 1035.47 PASS AB=0.557;AC=1;AF=0.50;AN=2;BaseQRankSum=1.515;DB;DP=70;Dels=0.0;FS=5.04;HRun=0;HaplotypeScore=0.9469;MQ=59.73;MQ0=0;MQRankSum=1.884;QD=14.79;ReadPosRankSum=1.305;SNPEFF_AMINO_ACID_CHANGE=E34Q;SNPEFF_CODON_CHANGE=Gag/Cag;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_219602297_219603886;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTLL4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000258398 GT:AD:DP:GQ:PL 0/1:39,31:70:99:1065,0,1152
2 219602819 rs3731876 G A 932.96 PASS AB=0.652;AC=1;AF=0.50;AN=2;BaseQRankSum=2.954;DB;DP=94;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.3544;MQ=59.56;MQ0=0;MQRankSum=-1.294;QD=9.93;ReadPosRankSum=0.316;SNPEFF_AMINO_ACID_CHANGE=P140;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_219602297_219603886;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTLL4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000258398 GT:AD:DP:GQ:PL 0/1:60,32:94:99:963,0,1867
2 219605118 rs7562426 G A 68.81 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=1.754;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=9.83;ReadPosRankSum=-0.55;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTLL4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000415717 GT:AD:DP:GQ:PL 0/1:4,3:7:98.81:99,0,115
2 219609776 rs2272191 G A 999.97 PASS AB=0.418;AC=1;AF=0.50;AN=2;BaseQRankSum=4.741;DB;DP=56;Dels=0.0;FS=4.162;HRun=0;HaplotypeScore=1.9774;MQ=59.59;MQ0=0;MQRankSum=0.42;QD=17.86;ReadPosRankSum=-1.137;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTLL4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258398 GT:AD:DP:GQ:PL 0/1:23,32:56:99:1030,0,649
2 219609995 rs2272190 G C 946.74 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.45;DB;DP=78;Dels=0.0;FS=1.282;HRun=5;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=-2.188;QD=12.14;ReadPosRankSum=0.563;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTLL4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258398 GT:AD:DP:GQ:PL 0/1:35,42:78:99:977,0,1023
2 219610322 rs2272189 G A 31.34 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=6.27;ReadPosRankSum=0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTLL4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258398 GT:AD:DP:GQ:PL 0/1:3,2:5:61.33:61,0,96
2 219610433 rs586194 A G 468.87 PASS AB=0.464;AC=1;AF=0.50;AN=2;BaseQRankSum=0.691;DB;DP=28;Dels=0.0;FS=3.876;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.138;QD=16.75;ReadPosRankSum=1.612;SNPEFF_AMINO_ACID_CHANGE=E437;SNPEFF_CODON_CHANGE=gaA/gaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_219610414_219610524;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTLL4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000457313 GT:AD:DP:GQ:PL 0/1:13,15:28:99:499,0,332
2 219612282 rs2272188 A G 543.30 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.254;DB;DP=60;Dels=0.0;FS=2.578;HRun=0;HaplotypeScore=0.9332;MQ=60.0;MQ0=0;MQRankSum=1.023;QD=9.06;ReadPosRankSum=-1.628;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTLL4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461181 GT:AD:DP:GQ:PL 0/1:28,32:60:99:573,0,743
2 219618237 rs6436073 A C 1089.15 PASS AB=0.57;AC=1;AF=0.50;AN=2;BaseQRankSum=6.177;DB;DP=86;Dels=0.0;FS=2.392;HRun=2;HaplotypeScore=0.0;MQ=59.73;MQ0=0;MQRankSum=-0.556;QD=12.66;ReadPosRankSum=1.952;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTLL4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465558 GT:AD:DP:GQ:PL 0/1:49,37:86:99:1119,0,1482
2 219618497 rs6757772 T G 103.73 PASS AB=0.632;AC=1;AF=0.50;AN=2;BaseQRankSum=3.138;DB;DP=19;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=58.78;MQ0=0;MQRankSum=-0.047;QD=5.46;ReadPosRankSum=-0.234;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTLL4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465558 GT:AD:DP:GQ:PL 0/1:12,7:19:99:134,0,422
2 219618708 rs55900247 T C 641.10 PASS AB=0.432;AC=1;AF=0.50;AN=2;BaseQRankSum=1.395;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.38;MQ0=0;MQRankSum=1.058;QD=17.33;ReadPosRankSum=0.445;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTLL4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465558 GT:AD:DP:GQ:PL 0/1:16,21:37:99:671,0,520
2 219677690 rs61733619 A G 458.36 PASS AB=0.441;AC=1;AF=0.50;AN=2;BaseQRankSum=0.285;DB;DP=34;Dels=0.0;FS=3.102;HRun=0;HaplotypeScore=0.9916;MQ=59.32;MQ0=0;MQRankSum=1.766;QD=13.48;ReadPosRankSum=-0.019;SNPEFF_AMINO_ACID_CHANGE=Q202;SNPEFF_CODON_CHANGE=caA/caG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_219677647_219677748;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CYP27A1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000411688 GT:AD:DP:GQ:PL 0/1:15,19:34:99:488,0,475
2 219691566 rs1467320 A G 850.98 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PRKAG3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000430489 GT:AD:DP:GQ:PL 1/1:0,23:23:66.22:884,66,0
2 219692527 rs34846588 G GC 1302.77 PASS AC=2;AF=1.00;AN=2;DB;DP=34;FS=0.0;HRun=3;HaplotypeScore=74.6724;IndelType=I;MQ=60.63;MQ0=0;QD=38.32;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PRKAG3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000430489 GT:AD:DP:GQ:PL 1/1:1,33:34:96.32:1345,96,0
2 219692790 rs5838710 A AG 294.30 PASS AC=2;AF=1.00;AN=2;DB;DP=8;FS=0.0;HRun=3;HaplotypeScore=22.5143;IndelType=I;MQ=54.56;MQ0=0;QD=36.79;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PRKAG3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000430489 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:336,24,0
2 219696014 rs650898 G A 250.24 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.8;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PRKAG3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392098 GT:AD:DP:GQ:PL 1/1:0,9:9:21.07:283,21,0
2 219736369 rs141494427 C G 101.37 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.221;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.39;MQ0=0;MQRankSum=0.956;QD=11.26;ReadPosRankSum=1.221;SNPEFF_AMINO_ACID_CHANGE=P155R;SNPEFF_CODON_CHANGE=cCt/cGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_219736207_219736541;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WNT6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000233948 GT:AD:DP:GQ:PL 0/1:3,6:9:99:131,0,100
2 219884464 rs73090806 C G 374.71 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.23;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC108;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341552 GT:AD:DP:GQ:PL 1/1:0,12:12:30.10:408,30,0
2 219884484 rs12464687 A G 171.84 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC108;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341552 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:205,15,0
2 219889022 rs9653350 C G 491.43 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.91;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC108;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409865 GT:AD:DP:GQ:PL 1/1:0,17:17:39.13:524,39,0
2 219890979 rs7560948 T C 180.51 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.56;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC108;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409865 GT:AD:DP:GQ:PL 1/1:0,8:8:18.05:213,18,0
2 219894572 rs55946465 C T 210.26 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.04;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC108;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295729 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:243,18,0
2 219895315 rs7588702 A G 159.85 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.84;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC108;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295729 GT:AD:DP:GQ:PL 1/1:0,7:7:18.02:193,18,0
2 219895548 rs56411706 C A 943.28 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.614;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.614;QD=32.53;ReadPosRankSum=-0.179;SNPEFF_AMINO_ACID_CHANGE=A276S;SNPEFF_CODON_CHANGE=Gcc/Tcc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_219895411_219895556;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC108;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000441164 GT:AD:DP:GQ:PL 1/1:1,28:29:42.75:976,43,0
2 219895588 rs56068521 C T 448.89 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.06;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC108;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295729 GT:AD:DP:GQ:PL 1/1:0,14:14:36.12:482,36,0
2 219896550 rs4453686 C G 92.49 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.83;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC108;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295729 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:125,9,0
2 219900068 rs17852959 C T 245.08 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9916;MQ=60.0;MQ0=0;QD=30.64;SNPEFF_AMINO_ACID_CHANGE=V161M;SNPEFF_CODON_CHANGE=Gtg/Atg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_219898414_219900386;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC108;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000295729 GT:AD:DP:GQ:PL 1/1:0,8:8:21.07:278,21,0
2 219903258 rs6736922 T G 900.76 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.36;SNPEFF_AMINO_ACID_CHANGE=M55L;SNPEFF_CODON_CHANGE=Atg/Ctg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_219903097_219903300;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC108;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000409865 GT:AD:DP:GQ:PL 1/1:0,27:27:69.22:934,69,0
2 219903723 rs4674354 C T 1746.75 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.189;DB;DP=51;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9993;MQ=60.0;MQ0=0;MQRankSum=-0.849;QD=34.25;ReadPosRankSum=1.189;SNPEFF_AMINO_ACID_CHANGE=V16;SNPEFF_CODON_CHANGE=gtG/gtA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_219903618_219903772;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC108;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000341552 GT:AD:DP:GQ:PL 1/1:1,50:51:99:1780,104,0
2 219905247 rs3736403 T C 1260.94 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.03;SNPEFF_AMINO_ACID_CHANGE=N22S;SNPEFF_CODON_CHANGE=aAt/aGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_219905241_219905286;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC108;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000409865 GT:AD:DP:GQ:PL 1/1:0,35:35:93.31:1294,93,0
2 219920037 rs394452 A G 608.55 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.36;SNPEFF_AMINO_ACID_CHANGE=T376;SNPEFF_CODON_CHANGE=acT/acC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_219919146_219920587;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IHH;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000295731 GT:AD:DP:GQ:PL 1/1:0,24:24:48.16:642,48,0
2 219920565 rs3731878 C T 442.76 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.71;MQ0=0;QD=34.06;SNPEFF_AMINO_ACID_CHANGE=T200;SNPEFF_CODON_CHANGE=acG/acA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_219919146_219920587;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IHH;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000295731 GT:AD:DP:GQ:PL 1/1:0,13:13:36.12:476,36,0
2 219941063 rs897477 G A 2348.20 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.55;MQ0=0;QD=36.69;SNPEFF_AMINO_ACID_CHANGE=N310;SNPEFF_CODON_CHANGE=aaC/aaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_219940039_219941167;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NHEJ1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000409720 GT:AD:DP:GQ:PL 1/1:0,64:64:99:2381,181,0
2 220011092 rs2293081 A C 42.68 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.34;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NHEJ1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000450447 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:74,6,0
2 220022176 rs6436120 C T 764.73 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=58.43;MQ0=0;QD=31.86;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NHEJ1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481764 GT:AD:DP:GQ:PL 1/1:0,24:24:60.18:798,60,0
2 220037393 rs4674361 A G 3004.84 PASS AC=2;AF=1.00;AN=2;DB;DP=89;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.8321;MQ=59.22;MQ0=0;QD=33.76;SNPEFF_AMINO_ACID_CHANGE=L383P;SNPEFF_CODON_CHANGE=cTc/cCc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_220036619_220037850;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNPPD1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000360507 GT:AD:DP:GQ:PL 1/1:0,89:89:99:3038,235,0
2 220037444 rs17655123 G A 1796.78 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;QD=36.67;SNPEFF_AMINO_ACID_CHANGE=P366L;SNPEFF_CODON_CHANGE=cCc/cTc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_220036619_220037850;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNPPD1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000360507 GT:AD:DP:GQ:PL 1/1:0,49:49:99:1830,141,0
2 220044275 rs78862042 A C 901.85 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.07;MQ0=0;QD=36.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM134A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000430297 GT:AD:DP:GQ:PL 1/1:0,25:25:69.22:935,69,0
2 220045035 rs7577690 G A 717.11 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.678;DB;DP=23;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.583;QD=31.18;ReadPosRankSum=-0.226;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM134A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465672 GT:AD:DP:GQ:PL 1/1:1,22:23:21.43:750,21,0
2 220046349 rs2272017 G C 810.20 PASS AB=0.525;AC=1;AF=0.50;AN=2;BaseQRankSum=0.994;DB;DP=59;Dels=0.0;FS=1.274;HRun=0;HaplotypeScore=1.9733;MQ=58.02;MQ0=0;MQRankSum=-0.008;QD=13.73;ReadPosRankSum=-0.509;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM134A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000430747 GT:AD:DP:GQ:PL 0/1:31,28:59:99:840,0,866
2 220046840 rs3210652 G A 4475.51 PASS AC=2;AF=1.00;AN=2;DB;DP=122;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=5.443;MQ=59.47;MQ0=0;QD=36.68;SNPEFF_AMINO_ACID_CHANGE=R167H;SNPEFF_CODON_CHANGE=cGt/cAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_220046735_220047030;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM134A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000443518 GT:AD:DP:GQ:PL 1/1:0,122:122:99:4475,334,0
2 220071803 rs6714820 C G 128.47 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=49.96;MQ0=0;QD=25.69;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCB6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265316 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:161,12,0
2 220072766 rs4674366 G T 2217.05 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=3.196;MQ=59.35;MQ0=0;QD=34.64;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCB6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265316 GT:AD:DP:GQ:PL 1/1:0,64:64:99:2250,172,0
2 220072852 rs4674367 C T 609.88 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=2.883;DB;DP=35;Dels=0.0;FS=1.703;HRun=1;HaplotypeScore=1.9975;MQ=60.0;MQ0=0;MQRankSum=-0.017;QD=17.43;ReadPosRankSum=-0.783;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCB6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265316 GT:AD:DP:GQ:PL 0/1:15,20:35:99:640,0,444
2 220078496 rs2139823 T C 8042.91 PASS AC=2;AF=1.00;AN=2;DB;DP=250;DS;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.72;MQ0=0;QD=32.17;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCB6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427013 GT:AD:DP:GQ:PL 1/1:0,250:250:99:8043,611,0
2 220083279 rs1109866 C T 743.92 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.99;MQ0=0;QD=32.34;SNPEFF_AMINO_ACID_CHANGE=L39;SNPEFF_CODON_CHANGE=ctG/ctA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_220082847_220083712;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABCB6;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000265316 GT:AD:DP:GQ:PL 1/1:0,23:23:60.19:777,60,0
2 220083453 rs1109867 G T 182.79 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.04;MQ0=0;QD=30.46;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ATG9A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361242 GT:AD:DP:GQ:PL 1/1:0,6:6:18.04:216,18,0
2 220085845 rs2276633 A G 477.36 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.08;SNPEFF_AMINO_ACID_CHANGE=T714;SNPEFF_CODON_CHANGE=acT/acC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_220085802_220086024;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ATG9A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000409422 GT:AD:DP:GQ:PL 1/1:0,17:17:39.11:510,39,0
2 220088248 rs908196 A G 468.61 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.24;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ATG9A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000412355 GT:AD:DP:GQ:PL 1/1:0,15:15:42.12:502,42,0
2 220089590 rs35172973 T TG 1500 PASS AC=2;AF=1.00;AN=2;DB;DP=44;FS=0.0;HRun=4;HaplotypeScore=194.9532;IndelType=I;MQ=58.06;MQ0=0;QD=34.09;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ATG9A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000412355 GT:AD:DP:GQ:PL 1/1:6,38:44:99:1542,114,0
2 220089685 rs2276637 G C 4657.08 PASS AC=2;AF=1.00;AN=2;DB;DP=132;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.5264;MQ=59.98;MQ0=0;QD=35.28;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ATG9A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000412355 GT:AD:DP:GQ:PL 1/1:1,131:132:99:4657,340,0
2 220100787 rs2293079 C T 453.99 PASS AB=0.541;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.381;DB;DP=37;Dels=0.0;FS=1.438;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.295;QD=12.27;ReadPosRankSum=-0.411;SNPEFF_AMINO_ACID_CHANGE=P466L;SNPEFF_CODON_CHANGE=cCa/cTa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_220100732_220100817;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKZF1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000409849 GT:AD:DP:GQ:PL 0/1:20,17:37:99:484,0,662
2 220113242 rs56772206 T G 2754.25 PASS AC=2;AF=1.00;AN=2;DB;DP=78;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.41;MQ0=0;QD=35.31;SNPEFF_AMINO_ACID_CHANGE=L175;SNPEFF_CODON_CHANGE=ctT/ctG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_220113143_220113468;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STK16;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000409516 GT:AD:DP:GQ:PL 1/1:0,78:78:99:2787,205,0
2 220113384 rs8447 G A 37.28 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.546;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.8332;MQ=57.05;MQ0=0;MQRankSum=-0.182;QD=2.33;ReadPosRankSum=-1.031;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STK16;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461417 GT:AD:DP:GQ:PL 0/1:12,4:16:67.28:67,0,429
2 220117333 rs6712442 T G 39.62 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.95;MQ0=0;QD=9.91;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STK16;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000396738 GT:AD:DP:GQ:PL 1/1:0,4:4:6.02:71,6,0
2 220130890 rs62191852 G A 68.35 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=1.683;DB;DP=9;Dels=0.0;FS=2.808;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.248;QD=7.59;ReadPosRankSum=0.248;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TUBA4A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398989 GT:AD:DP:GQ:PL 0/1:6,3:9:98.34:98,0,160
2 220136155 rs7594971 T C 3461.23 PASS AC=2;AF=1.00;AN=2;DB;DP=116;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=50.42;MQ0=3;QD=29.84;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TUBA4A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398989 GT:AD:DP:GQ:PL 1/1:0,116:116:99:3461,286,0
2 220136351 rs3731892 G A 2881.07 PASS AC=2;AF=1.00;AN=2;DB;DP=91;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=2.4875;MQ=56.42;MQ0=0;QD=31.66;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TUBA4A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398989 GT:AD:DP:GQ:PL 1/1:0,91:91:99:2914,241,0
2 220136371 rs3731894 T C 3127.22 PASS AC=2;AF=1.00;AN=2;DB;DP=95;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.38;MQ0=0;QD=32.92;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TUBA4A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398989 GT:AD:DP:GQ:PL 1/1:0,95:95:99:3160,247,0
2 220147808 rs140419734 GTCT G 159.82 PASS AB=0.737;AC=1;AF=0.50;AN=2;BaseQRankSum=2.927;DB;DP=14;FS=0.0;HRun=0;HaplotypeScore=51.9408;IndelType=D;MQ=54.85;MQ0=0;MQRankSum=-2.163;QD=11.42;ReadPosRankSum=-0.437;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAJB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421532 GT:AD:DP:GQ:PL 0/1:9,5:14:99:199,0,486
2 220156146 rs1983297 G A 189.09 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=0.521;DB;DP=15;Dels=0.0;FS=6.803;HRun=0;HaplotypeScore=0.0;MQ=58.45;MQ0=0;MQRankSum=0.405;QD=12.61;ReadPosRankSum=0.752;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAJB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336576 GT:AD:DP:GQ:PL 0/1:8,7:15:99:219,0,214
2 220162015 rs17847406 C G 420.93 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.482;DB;DP=32;Dels=0.0;FS=1.468;HRun=4;HaplotypeScore=1.5518;MQ=60.0;MQ0=0;MQRankSum=-0.376;QD=13.15;ReadPosRankSum=1.206;SNPEFF_AMINO_ACID_CHANGE=P586;SNPEFF_CODON_CHANGE=ccG/ccC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_220161955_220162155;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPRN;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000537666 GT:AD:DP:GQ:PL 0/1:16,16:32:99:451,0,388
2 220162959 rs12105638 G A 114.69 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.38;QD=19.12;ReadPosRankSum=-0.72;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000412847 GT:AD:DP:GQ:PL 0/1:2,4:6:66.35:145,0,66
2 220163507 rs13014450 C T 37.95 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.21;MQ0=0;MQRankSum=-0.358;QD=7.59;ReadPosRankSum=-0.358;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000412847 GT:AD:DP:GQ:PL 0/1:3,2:5:67.94:68,0,95
2 220165763 rs2292606 T C 147.78 PASS AB=0.65;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.219;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.079;QD=7.39;ReadPosRankSum=1.03;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000412847 GT:AD:DP:GQ:PL 0/1:13,7:20:99:178,0,448
2 220168616 rs2271594 C T 93.19 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.06;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468454 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:125,9,0
2 220172576 rs7591986 A C 1511.56 PASS AB=0.481;AC=1;AF=0.50;AN=2;BaseQRankSum=0.446;DB;DP=106;Dels=0.0;FS=10.376;HRun=0;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=-0.959;QD=14.26;ReadPosRankSum=0.433;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295718 GT:AD:DP:GQ:PL 0/1:51,55:106:99:1542,0,1613
2 220172731 rs2292601 A G 196.91 PASS AB=0.3;AC=1;AF=0.50;AN=2;BaseQRankSum=0.546;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.546;QD=19.69;ReadPosRankSum=0.296;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295718 GT:AD:DP:GQ:PL 0/1:3,7:10:89.14:227,0,89
2 220173905 rs57623838 C T 270.92 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.978;DB;DP=22;Dels=0.0;FS=7.858;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.326;QD=12.31;ReadPosRankSum=1.05;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295718 GT:AD:DP:GQ:PL 0/1:8,14:22:99:301,0,231
2 220174056 rs6736979 T C 32.06 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=5;Dels=0.0;FS=4.771;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=6.41;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTPRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000446182 GT:AD:DP:GQ:PL 0/1:1,4:5:32.73:62,0,33
2 220194247 rs3832109 A AATT 829.50 PASS AB=0.674;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.883;DB;DP=29;FS=0.0;HRun=0;HaplotypeScore=90.9737;IndelType=I;MQ=55.04;MQ0=0;MQRankSum=-0.988;QD=28.6;ReadPosRankSum=-0.391;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=RESP18;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000333527 GT:AD:DP:GQ:PL 0/1:15,14:29:99:869,0,615
2 220195446 rs6707009 C G 114.99 PASS AB=0.684;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.464;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.219;QD=6.05;ReadPosRankSum=0.745;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=RESP18;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000333527 GT:AD:DP:GQ:PL 0/1:13,6:19:99:145,0,451
2 220195738 rs34019246 GTCT G 179.01 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=2.219;DB;DP=9;FS=0.0;HRun=0;HaplotypeScore=34.4254;IndelType=D;MQ=54.65;MQ0=0;MQRankSum=-1.159;QD=19.89;ReadPosRankSum=0.361;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=RESP18;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000333527 GT:AD:DP:GQ:PL 0/1:4,5:9:99:218,0,241
2 220197207 rs2048737 T C 200.33 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=0.337;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.63;MQ0=0;MQRankSum=0.818;QD=11.78;ReadPosRankSum=-0.529;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=RESP18;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000333527 GT:AD:DP:GQ:PL 0/1:8,9:17:99:230,0,287
2 220197321 rs2385405 C T 112.99 PASS AB=0.722;AC=1;AF=0.50;AN=2;BaseQRankSum=0.099;DB;DP=18;Dels=0.0;FS=9.425;HRun=1;HaplotypeScore=0.9967;MQ=60.0;MQ0=0;MQRankSum=-0.887;QD=6.28;ReadPosRankSum=1.38;SNPEFF_AMINO_ACID_CHANGE=E53K;SNPEFF_CODON_CHANGE=Gag/Aag;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_220197246_220197460;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=RESP18;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000333527 GT:AD:DP:GQ:PL 0/1:13,5:18:99:143,0,386
2 220239534 rs3731904 G A 99.31 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.4;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.2;QD=7.09;ReadPosRankSum=-0.933;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNPEP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462779 GT:AD:DP:GQ:PL 0/1:9,5:14:99:129,0,300
2 220239561 rs3731905 C G 192.06 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=0.637;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.45;MQ0=0;MQRankSum=-0.868;QD=12.8;ReadPosRankSum=0.174;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNPEP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462779 GT:AD:DP:GQ:PL 0/1:8,7:15:99:222,0,215
2 220246218 rs6436148 T C 5129.44 PASS AC=2;AF=1.00;AN=2;DB;DP=149;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.5449;MQ=59.28;MQ0=0;QD=34.43;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNPEP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000322176 GT:AD:DP:GQ:PL 1/1:0,149:149:99:5129,391,0
2 220249329 rs2002892 C T 92.13 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.71;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNPEP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000322176 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:124,9,0
2 220250147 rs907679 A G 760.93 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;QD=31.71;SNPEFF_AMINO_ACID_CHANGE=V151A;SNPEFF_CODON_CHANGE=gTg/gCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_220250146_220250253;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNPEP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000535056 GT:AD:DP:GQ:PL 1/1:0,24:24:63.18:794,63,0
2 220250322 rs878437 C A 960.90 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.39;MQ0=0;QD=33.13;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNPEP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000430206 GT:AD:DP:GQ:PL 1/1:0,29:29:72.24:994,72,0
2 220250826 rs2271456 G A 1078.94 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.34;MQ0=0;QD=33.72;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNPEP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000519698 GT:AD:DP:GQ:PL 1/1:0,32:32:87.24:1112,87,0
2 220250897 rs34433294 AG A 1369.31 PASS AC=2;AF=1.00;AN=2;DB;DP=38;FS=0.0;HRun=3;HaplotypeScore=148.0803;IndelType=D;MQ=60.85;MQ0=0;QD=36.03;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNPEP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000519698 GT:AD:DP:GQ:PL 1/1:0,38:38:99:1411,114,0
2 220251178 rs2271457 T C 691.45 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.03;MQ0=0;QD=28.81;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNPEP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000519698 GT:AD:DP:GQ:PL 1/1:0,24:24:60.18:724,60,0
2 220251208 rs1040009 T C 291.02 PASS AB=0.474;AC=1;AF=0.50;AN=2;BaseQRankSum=1.288;DB;DP=19;Dels=0.0;FS=3.522;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.844;QD=15.32;ReadPosRankSum=-0.489;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNPEP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000519698 GT:AD:DP:GQ:PL 0/1:9,10:19:99:321,0,268
2 220283259 rs1318299 A G 464.20 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.71;MQ0=0;QD=25.79;SNPEFF_AMINO_ACID_CHANGE=P25;SNPEFF_CODON_CHANGE=ccA/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_220283099_220283762;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DES;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000373960 GT:AD:DP:GQ:PL 1/1:0,18:18:39.12:497,39,0
2 220283277 rs2017800 T C 434.37 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.55;MQ0=0;QD=27.15;SNPEFF_AMINO_ACID_CHANGE=S31;SNPEFF_CODON_CHANGE=agT/agC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_220283099_220283762;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DES;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000373960 GT:AD:DP:GQ:PL 1/1:0,16:16:36.11:467,36,0
2 220283826 rs907677 T G 49.41 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.7;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DES;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373960 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
2 220284717 rs2666106 G C 741.04 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.05;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DES;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373960 GT:AD:DP:GQ:PL 1/1:0,20:20:60.19:774,60,0
2 220284779 rs12991025 C T 757.86 PASS AB=0.326;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.961;DB;DP=43;Dels=0.0;FS=1.442;HRun=1;HaplotypeScore=1.9841;MQ=59.46;MQ0=0;MQRankSum=0.227;QD=17.62;ReadPosRankSum=-1.774;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DES;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373960 GT:AD:DP:GQ:PL 0/1:14,29:43:99:788,0,334
2 220285309 rs1058261 C T 491.03 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.846;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.32;MQ0=0;MQRankSum=-0.707;QD=14.44;ReadPosRankSum=0.397;SNPEFF_AMINO_ACID_CHANGE=D276;SNPEFF_CODON_CHANGE=gaC/gaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_220285217_220285378;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DES;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000373960 GT:AD:DP:GQ:PL 0/1:16,18:34:99:521,0,454
2 220285666 rs12920 G C 319.96 PASS AB=0.542;AC=1;AF=0.50;AN=2;BaseQRankSum=0.058;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.058;QD=13.33;ReadPosRankSum=0.637;SNPEFF_AMINO_ACID_CHANGE=L338;SNPEFF_CODON_CHANGE=ctG/ctC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_220285550_220285675;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DES;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000373960 GT:AD:DP:GQ:PL 0/1:13,11:24:99:350,0,393
2 220286142 rs1058284 G A 856.06 PASS AB=0.492;AC=1;AF=0.50;AN=2;BaseQRankSum=1.712;DB;DP=63;Dels=0.0;FS=0.962;HRun=0;HaplotypeScore=0.9933;MQ=59.27;MQ0=0;MQRankSum=1.024;QD=13.59;ReadPosRankSum=0.516;SNPEFF_AMINO_ACID_CHANGE=A368;SNPEFF_CODON_CHANGE=gcG/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_220286062_220286282;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DES;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000373960 GT:AD:DP:GQ:PL 0/1:31,32:63:99:886,0,929
2 220306413 rs4674398 G T 50.05 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.02;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNPEP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000535056 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
2 220315970 rs10932806 G A 1173.07 PASS AB=0.542;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.032;DB;DP=83;Dels=0.0;FS=16.532;HRun=2;HaplotypeScore=0.0;MQ=59.5;MQ0=0;MQRankSum=0.749;QD=14.13;ReadPosRankSum=0.395;SNPEFF_AMINO_ACID_CHANGE=K638;SNPEFF_CODON_CHANGE=aaG/aaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_220315858_220316001;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPEG;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000396698 GT:AD:DP:GQ:PL 0/1:45,38:83:99:1203,0,1300
2 220330724 rs1567488 C T 162.67 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.387;DB;DP=11;Dels=0.0;FS=2.632;HRun=0;HaplotypeScore=0.0;MQ=50.96;MQ0=0;MQRankSum=0.717;QD=14.79;ReadPosRankSum=-0.143;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPEG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463218 GT:AD:DP:GQ:PL 0/1:5,6:11:99:193,0,143
2 220330804 rs1567487 T C 58.69 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.529;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=54.44;MQ0=0;MQRankSum=-0.831;QD=4.51;ReadPosRankSum=1.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPEG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463218 GT:AD:DP:GQ:PL 0/1:6,7:13:88.68:89,0,119
2 220333950 rs10167209 T C 767.43 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.03;MQ0=0;QD=31.98;SNPEFF_AMINO_ACID_CHANGE=P1188;SNPEFF_CODON_CHANGE=ccT/ccC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_220333878_220334101;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPEG;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000265327 GT:AD:DP:GQ:PL 1/1:0,24:24:66.15:800,66,0
2 220342004 rs45519033 G A 97.03 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=2.037;DB;DP=11;Dels=0.0;FS=6.264;HRun=1;HaplotypeScore=0.0;MQ=55.66;MQ0=0;MQRankSum=1.246;QD=8.82;ReadPosRankSum=0.278;SNPEFF_AMINO_ACID_CHANGE=E1522;SNPEFF_CODON_CHANGE=gaG/gaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_220341999_220342167;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPEG;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000265327 GT:AD:DP:GQ:PL 0/1:7,4:11:99:127,0,198
2 220345117 rs4674403 T G 48.72 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNPEP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000535056 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:80,6,0
2 220345118 rs4674404 T C 46.56 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.28;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNPEP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000535056 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:78,6,0
2 220353104 rs875097 A G 640.13 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.56;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNPEP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000535056 GT:AD:DP:GQ:PL 1/1:0,18:18:51.16:673,51,0
2 220353161 rs11892048 G C 630.99 PASS AB=0.382;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.205;DB;DP=34;Dels=0.0;FS=1.524;HRun=0;HaplotypeScore=0.9989;MQ=60.0;MQ0=0;MQRankSum=-0.284;QD=18.56;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNPEP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000535056 GT:AD:DP:GQ:PL 0/1:13,21:34:99:661,0,356
2 220353440 rs62191888 G T 166.10 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.369;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.2;MQ0=0;MQRankSum=0.101;QD=12.78;ReadPosRankSum=1.954;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNPEP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000535056 GT:AD:DP:GQ:PL 0/1:7,6:13:99:196,0,237
2 220354108 rs55760516 A G 696.52 PASS AB=0.46;AC=1;AF=0.50;AN=2;BaseQRankSum=0.814;DB;DP=50;Dels=0.0;FS=6.23;HRun=2;HaplotypeScore=2.4761;MQ=58.6;MQ0=0;MQRankSum=0.231;QD=13.93;ReadPosRankSum=0.693;SNPEFF_AMINO_ACID_CHANGE=R2790G;SNPEFF_CODON_CHANGE=Agg/Ggg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_220354058_220354661;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPEG;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000265327 GT:AD:DP:GQ:PL 0/1:23,27:50:99:727,0,681
2 220354542 rs55969678 G A 479.41 PASS AB=0.568;AC=1;AF=0.50;AN=2;BaseQRankSum=1.671;DB;DP=37;Dels=0.0;FS=11.789;HRun=0;HaplotypeScore=0.734;MQ=58.74;MQ0=0;MQRankSum=0.445;QD=12.96;ReadPosRankSum=0.812;SNPEFF_AMINO_ACID_CHANGE=P2934;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_220354058_220354661;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPEG;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000265327 GT:AD:DP:GQ:PL 0/1:21,16:37:99:509,0,733
2 220354757 rs6742231 G C 146.45 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.365;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.133;QD=13.31;ReadPosRankSum=-0.365;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNPEP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000535056 GT:AD:DP:GQ:PL 0/1:5,6:11:99:176,0,113
2 220355529 rs12464085 A G 620.15 PASS AB=0.451;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.371;DB;DP=51;Dels=0.0;FS=1.121;HRun=0;HaplotypeScore=0.6651;MQ=59.55;MQ0=0;MQRankSum=0.371;QD=12.16;ReadPosRankSum=0.932;SNPEFF_AMINO_ACID_CHANGE=H3079R;SNPEFF_CODON_CHANGE=cAc/cGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_220355455_220355678;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPEG;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000265327 GT:AD:DP:GQ:PL 0/1:23,28:51:99:650,0,675
2 220356449 rs6747041 G C 34.41 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.55;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.55;QD=4.92;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNPEP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000535056 GT:AD:DP:GQ:PL 0/1:4,3:7:64.40:64,0,146
2 220356632 rs6747090 C T 187.11 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.248;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.001;QD=20.79;ReadPosRankSum=-1.001;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNPEP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000535056 GT:AD:DP:GQ:PL 0/1:3,6:9:94.37:217,0,94
2 220356806 rs907146 C T 1162.40 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.63;MQ0=0;QD=34.19;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNPEP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000535056 GT:AD:DP:GQ:PL 1/1:0,34:34:90.27:1195,90,0
2 220357042 . C T 459.75 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.611;DP=36;Dels=0.0;FS=1.48;HRun=0;HaplotypeScore=0.0;MQ=58.71;MQ0=0;MQRankSum=0.017;QD=12.77;ReadPosRankSum=1.7;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNPEP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000535056 GT:AD:DP:GQ:PL 0/1:18,18:36:99:490,0,561
2 220357594 rs1078212 C A 177.12 PASS AB=0.588;AC=1;AF=0.50;AN=2;BaseQRankSum=0.342;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.317;QD=10.42;ReadPosRankSum=-0.049;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNPEP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000535056 GT:AD:DP:GQ:PL 0/1:10,7:17:99:207,0,213
2 220361070 rs5838740 TC T 423.75 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=4.461;DB;DP=40;FS=1.271;HRun=4;HaplotypeScore=106.9939;IndelType=D;MQ=59.61;MQ0=0;MQRankSum=1.15;QD=10.59;ReadPosRankSum=1.027;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPEG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265327 GT:AD:DP:GQ:PL 0/1:24,16:40:99:463,0,759
2 220361265 rs2385541 A G 290.15 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.18;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPEG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265327 GT:AD:DP:GQ:PL 1/1:0,12:12:24.08:323,24,0
2 220361344 rs2385540 G A 47.20 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.6;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPEG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265327 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:78,6,0
2 220361435 rs1567489 C G 38.32 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=19.16;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPEG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265327 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:70,6,0
2 220361486 rs2010592 G A 49.99 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPEG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265327 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
2 220361590 rs11437065 T TA 381.35 PASS AB=0.593;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.531;DB;DP=16;FS=0.0;HRun=0;HaplotypeScore=55.1994;IndelType=I;MQ=60.67;MQ0=0;MQRankSum=0.551;QD=23.83;ReadPosRankSum=-1.408;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPEG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265327 GT:AD:DP:GQ:PL 0/1:5,11:16:99:420,0,165
2 220362557 rs12474050 C T 119.03 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=1.495;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.198;QD=17.0;ReadPosRankSum=0.922;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPEG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265327 GT:AD:DP:GQ:PL 0/1:2,5:7:46.93:149,0,47
2 220362899 rs2029251 C G 173.75 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.96;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPEG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265327 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:206,15,0
2 220366953 rs2385539 G C 75.73 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.731;QD=15.15;ReadPosRankSum=0.731;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPEG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475104 GT:AD:DP:GQ:PL 0/1:1,4:5:29.19:106,0,29
2 220371181 rs10932808 T A 268.29 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.54;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GMPPA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000435316 GT:AD:DP:GQ:PL 1/1:0,8:8:24.07:301,24,0
2 220379560 rs3731909 C G 762.90 PASS AB=0.449;AC=1;AF=0.50;AN=2;BaseQRankSum=0.484;DB;DP=50;Dels=0.0;FS=5.03;HRun=0;HaplotypeScore=0.9916;MQ=59.54;MQ0=0;MQRankSum=-1.495;QD=15.26;ReadPosRankSum=0.247;SNPEFF_AMINO_ACID_CHANGE=A165;SNPEFF_CODON_CHANGE=gcC/gcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_220379052_220380028;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ACCN4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000347842 GT:AD:DP:GQ:PL 0/1:22,27:50:99:793,0,631
2 220380125 rs1872858 G A 179.44 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=1.031;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=-0.825;QD=16.31;ReadPosRankSum=1.532;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ACCN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000347842 GT:AD:DP:GQ:PL 0/1:5,6:11:99:209,0,164
2 220397811 rs6731344 T C 231.85 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.76;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ACCN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473709 GT:AD:DP:GQ:PL 1/1:0,9:9:24.04:265,24,0
2 220399951 rs2276643 A G 437.87 PASS AB=0.464;AC=1;AF=0.50;AN=2;BaseQRankSum=2.488;DB;DP=28;Dels=0.0;FS=1.946;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.829;QD=15.64;ReadPosRankSum=-0.461;SNPEFF_AMINO_ACID_CHANGE=T486;SNPEFF_CODON_CHANGE=acA/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_220399893_220400046;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ACCN4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000347842 GT:AD:DP:GQ:PL 0/1:13,15:28:99:468,0,401
2 220401732 rs3770237 G A 121.96 PASS AB=0.727;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.405;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.95;MQ0=0;MQRankSum=0.258;QD=5.54;ReadPosRankSum=0.627;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ACCN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461395 GT:AD:DP:GQ:PL 0/1:16,6:22:99:152,0,435
2 220401751 rs2385538 G A 146.10 PASS AB=0.708;AC=1;AF=0.50;AN=2;BaseQRankSum=1.715;DB;DP=24;Dels=0.0;FS=5.478;HRun=1;HaplotypeScore=0.9867;MQ=59.03;MQ0=0;MQRankSum=1.207;QD=6.09;ReadPosRankSum=0.889;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ACCN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461395 GT:AD:DP:GQ:PL 0/1:17,7:24:99:176,0,541
2 220402665 rs6436153 C A 140.30 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.676;DB;DP=10;Dels=0.0;FS=2.341;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.103;QD=14.03;ReadPosRankSum=0.336;SNPEFF_AMINO_ACID_CHANGE=P614Q;SNPEFF_CODON_CHANGE=cCg/cAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_220402655_220403494;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ACCN4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000347842 GT:AD:DP:GQ:PL 0/1:5,5:10:99:170,0,144
2 220402671 rs11689281 G T 142.34 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=2.047;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.259;QD=10.95;ReadPosRankSum=1.073;SNPEFF_AMINO_ACID_CHANGE=R616L;SNPEFF_CODON_CHANGE=cGg/cTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_220402655_220403494;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ACCN4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000347842 GT:AD:DP:GQ:PL 0/1:7,6:13:99:172,0,185
2 220402680 rs11695248 T C 147.46 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.718;DB;DP=12;Dels=0.0;FS=2.463;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=12.29;ReadPosRankSum=0.869;SNPEFF_AMINO_ACID_CHANGE=V619A;SNPEFF_CODON_CHANGE=gTg/gCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_220402655_220403494;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ACCN4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000347842 GT:AD:DP:GQ:PL 0/1:6,6:12:99:177,0,158
2 220404381 rs1976616 A G 1560.98 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=53.58;MQ0=0;QD=29.45;SNPEFF_AMINO_ACID_CHANGE=Y522;SNPEFF_CODON_CHANGE=taT/taC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_220404094_220405364;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHPF;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000535926 GT:AD:DP:GQ:PL 1/1:0,52:53:99:1594,123,0
2 220404648 rs1043833 C T 770.02 PASS AB=0.44;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.93;DB;DP=50;Dels=0.0;FS=5.189;HRun=0;HaplotypeScore=1.5317;MQ=59.07;MQ0=0;MQRankSum=0.774;QD=15.4;ReadPosRankSum=-0.412;SNPEFF_AMINO_ACID_CHANGE=L433;SNPEFF_CODON_CHANGE=ctG/ctA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_220404094_220405364;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHPF;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000535926 GT:AD:DP:GQ:PL 0/1:22,28:50:99:800,0,727
2 220404726 rs1043832 G A 419.57 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.369;DB;DP=30;Dels=0.0;FS=3.696;HRun=0;HaplotypeScore=0.9867;MQ=58.45;MQ0=0;MQRankSum=1.286;QD=13.99;ReadPosRankSum=0.041;SNPEFF_AMINO_ACID_CHANGE=H407;SNPEFF_CODON_CHANGE=caC/caT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_220404094_220405364;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHPF;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000535926 GT:AD:DP:GQ:PL 0/1:15,15:30:99:450,0,446
2 220405230 rs6436154 G A 383.74 PASS AB=0.348;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.484;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.86;MQ0=0;MQRankSum=0.807;QD=16.68;ReadPosRankSum=-0.29;SNPEFF_AMINO_ACID_CHANGE=H239;SNPEFF_CODON_CHANGE=caC/caT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_220404094_220405364;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHPF;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000535926 GT:AD:DP:GQ:PL 0/1:8,15:23:99:414,0,205
2 220405321 rs6436155 T C 433.47 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=55.2;MQ0=0;QD=30.96;SNPEFF_AMINO_ACID_CHANGE=Q209R;SNPEFF_CODON_CHANGE=cAg/cGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_220404094_220405364;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHPF;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000535926 GT:AD:DP:GQ:PL 1/1:0,14:14:39.11:466,39,0
2 220406722 rs3731912 T C 190.74 PASS AB=0.143;AC=1;AF=0.50;AN=2;BaseQRankSum=0.742;DB;DP=7;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.742;QD=27.25;ReadPosRankSum=0.742;SNPEFF_AMINO_ACID_CHANGE=L168;SNPEFF_CODON_CHANGE=ctA/ctG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_220406338_220406911;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHPF;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000243776 GT:AD:DP:GQ:PL 0/1:1,6:7:11.43:221,0,11
2 220406944 rs7581251 G A 41.87 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=51.77;MQ0=0;QD=13.96;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ACCN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000347842 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:73,6,0
2 220412256 rs8179770 T C 6902.85 PASS AC=2;AF=1.00;AN=2;DB;DP=222;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.27;MQ0=0;QD=31.09;SNPEFF_AMINO_ACID_CHANGE=F151;SNPEFF_CODON_CHANGE=ttT/ttC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_220412228_220412271;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM198;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000451952 GT:AD:DP:GQ:PL 1/1:0,222:222:99:6903,545,0
2 220414016 rs6436156 C T 1432.06 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.5;MQ0=0;QD=31.13;SNPEFF_AMINO_ACID_CHANGE=D295;SNPEFF_CODON_CHANGE=gaC/gaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_220413874_220414076;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM198;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000344458 GT:AD:DP:GQ:PL 1/1:0,46:46:99:1465,108,0
2 220415717 rs3731918 G A 236.79 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.83;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=OBSL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265317 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:270,21,0
2 220415752 rs6745782 C T 87.94 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.31;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=OBSL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265317 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:120,9,0
2 220416570 rs4672931 C T 126.15 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.54;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=OBSL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265317 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:159,12,0
2 220416591 rs4672932 C T 128.61 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.15;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=OBSL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265317 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:161,12,0
2 220416803 rs4672933 A T 46.66 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=15.55;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=OBSL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265317 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:78,6,0
2 220416967 rs4672934 C T 96.26 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.06;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=OBSL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265317 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:128,9,0
2 220419236 rs10932813 T C 730.84 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.19;MQ0=0;QD=31.78;SNPEFF_AMINO_ACID_CHANGE=T1520;SNPEFF_CODON_CHANGE=acA/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_220419196_220419462;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=OBSL1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000373876 GT:AD:DP:GQ:PL 1/1:0,23:23:57.19:764,57,0
2 220419339 rs10932814 T C 555.60 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.5784;MQ=58.63;MQ0=0;QD=32.68;SNPEFF_AMINO_ACID_CHANGE=Q1486R;SNPEFF_CODON_CHANGE=cAg/cGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_220419196_220419462;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=OBSL1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000373876 GT:AD:DP:GQ:PL 1/1:0,17:17:51.14:589,51,0
2 220420553 rs1056908 C T 84.20 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.07;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=OBSL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472388 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:116,9,0
2 220420956 rs10932816 A G 363.23 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.53;MQ0=0;QD=24.22;SNPEFF_AMINO_ACID_CHANGE=M1332T;SNPEFF_CODON_CHANGE=aTg/aCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_220420742_220421014;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=OBSL1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000265318 GT:AD:DP:GQ:PL 1/1:0,15:15:36.08:396,36,0
2 220421417 rs1983210 C G 791.35 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.99;MQ0=0;QD=34.41;SNPEFF_AMINO_ACID_CHANGE=E1273D;SNPEFF_CODON_CHANGE=gaG/gaC;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_220421300_220421445;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=OBSL1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000265318 GT:AD:DP:GQ:PL 1/1:0,23:23:63.19:824,63,0
2 220427996 rs11904583 T C 193.90 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=57.39;MQ0=0;QD=21.54;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNPEP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000535056 GT:AD:DP:GQ:PL 1/1:0,9:9:18.06:227,18,0
2 220428381 rs2303543 A T 1501.74 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=58.78;MQ0=0;QD=30.03;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNPEP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000535056 GT:AD:DP:GQ:PL 1/1:0,50:50:99:1535,120,0
2 220430203 rs1039898 C T 2650.03 PASS AC=2;AF=1.00;AN=2;DB;DP=81;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9867;MQ=60.0;MQ0=0;QD=32.72;SNPEFF_AMINO_ACID_CHANGE=R310K;SNPEFF_CODON_CHANGE=aGg/aAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_220429964_220430236;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=OBSL1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000289656 GT:AD:DP:GQ:PL 1/1:0,81:81:99:2683,211,0
2 220431458 rs62191614 A C 188.51 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=1.001;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.248;QD=20.95;ReadPosRankSum=0.573;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=OBSL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465589 GT:AD:DP:GQ:PL 0/1:3,6:9:84.31:219,0,84
2 220431631 rs1043537 G T 536.91 PASS AB=0.367;AC=1;AF=0.50;AN=2;BaseQRankSum=1.223;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.647;QD=17.9;ReadPosRankSum=-1.558;SNPEFF_AMINO_ACID_CHANGE=A272;SNPEFF_CODON_CHANGE=gcC/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_220431552_220431848;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=OBSL1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000289656 GT:AD:DP:GQ:PL 0/1:11,19:30:99:567,0,300
2 220431919 rs4674412 A G 120.17 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.62;MQ0=0;QD=17.17;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=OBSL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465589 GT:AD:DP:GQ:PL 1/1:0,7:7:12.04:153,12,0
2 220432014 rs61732787 G A 131.43 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.058;DB;DP=15;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=56.85;MQ0=0;MQRankSum=0.058;QD=8.76;ReadPosRankSum=0.405;SNPEFF_AMINO_ACID_CHANGE=F193;SNPEFF_CODON_CHANGE=ttC/ttT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_220431995_220432297;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=OBSL1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000289656 GT:AD:DP:GQ:PL 0/1:8,7:15:99:161,0,235
2 220432709 rs2292360 A T 695.46 PASS AB=0.581;AC=1;AF=0.50;AN=2;BaseQRankSum=0.765;DB;DP=65;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=4.9177;MQ=59.29;MQ0=0;MQRankSum=1.23;QD=10.7;ReadPosRankSum=0.6;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=OBSL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465589 GT:AD:DP:GQ:PL 0/1:36,26:65:99:725,0,1030
2 220435034 rs10180675 A G 1056.33 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.76;MQ0=0;QD=31.07;SNPEFF_AMINO_ACID_CHANGE=L307;SNPEFF_CODON_CHANGE=ctT/ctC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_220434943_220436268;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=OBSL1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000265318 GT:AD:DP:GQ:PL 1/1:0,33:34:84.27:1089,84,0
2 220436973 rs11893842 A G 138.04 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.365;DB;DP=10;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=-1.036;QD=13.8;ReadPosRankSum=-0.365;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNPEP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000535056 GT:AD:DP:GQ:PL 0/1:4,6:10:99:168,0,128
2 220462640 rs681747 G T 323.70 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.66;MQ0=0;QD=32.37;SNPEFF_AMINO_ACID_CHANGE=R1M;SNPEFF_CODON_CHANGE=aGg/aTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_220462596_220462645;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STK11IP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000295641 GT:AD:DP:GQ:PL 1/1:0,10:10:27.09:357,27,0
2 220466199 rs620698 G T 1029.44 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.25;MQ0=0;QD=33.21;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNPEP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000535056 GT:AD:DP:GQ:PL 1/1:0,31:31:78.26:1062,78,0
2 220471116 rs633200 C G 414.79 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.91;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STK11IP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456857 GT:AD:DP:GQ:PL 1/1:0,13:13:36.11:448,36,0
2 220473355 rs673951 G A 195.92 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.485;DB;DP=21;Dels=0.0;FS=1.949;HRun=0;HaplotypeScore=0.9999;MQ=58.89;MQ0=0;MQRankSum=0.56;QD=9.33;ReadPosRankSum=0.037;SNPEFF_AMINO_ACID_CHANGE=V531I;SNPEFF_CODON_CHANGE=Gta/Ata;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_220473305_220473510;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STK11IP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000426736 GT:AD:DP:GQ:PL 0/1:14,7:21:99:226,0,466
2 220473653 rs675291 C T 364.42 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.44;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STK11IP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000459692 GT:AD:DP:GQ:PL 1/1:0,10:10:30.10:397,30,0
2 220476443 rs627530 C T 1715.96 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.02;SNPEFF_AMINO_ACID_CHANGE=S741F;SNPEFF_CODON_CHANGE=tCt/tTt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_220476326_220476556;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STK11IP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000456909 GT:AD:DP:GQ:PL 1/1:0,48:49:99:1749,129,0
2 220476645 rs581547 T C 587.22 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.89;MQ0=0;QD=27.96;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STK11IP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426736 GT:AD:DP:GQ:PL 1/1:0,21:21:51.15:620,51,0
2 220479312 rs624773 T C 1016.35 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=59.17;MQ0=0;QD=36.3;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STK11IP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475396 GT:AD:DP:GQ:PL 1/1:0,28:28:84.24:1049,84,0
2 220480246 rs111415476 C CAGAG 604.64 PASS AC=2;AF=1.00;AN=2;DB;DP=8;FS=0.0;HRun=0;HaplotypeScore=28.7314;IndelType=I;MQ=56.19;MQ0=0;QD=75.58;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STK11IP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000495941 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:647,24,0
2 220480363 rs116451129 G T 105.27 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.937;DB;DP=7;Dels=0.0;FS=3.68;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.55;QD=15.04;ReadPosRankSum=0.55;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STK11IP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000495941 GT:AD:DP:GQ:PL 0/1:3,4:7:99:135,0,103
2 220480639 rs640807 T C 421.40 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.42;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STK11IP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000495941 GT:AD:DP:GQ:PL 1/1:0,13:13:33.11:454,33,0
2 220480693 rs665845 G C 800.20 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.1;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STK11IP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000495941 GT:AD:DP:GQ:PL 1/1:0,21:21:63.18:833,63,0
2 220494118 rs597306 A C 343.80 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=7;HaplotypeScore=0.0;MQ=57.84;MQ0=0;QD=26.45;SNPEFF_AMINO_ACID_CHANGE=H157P;SNPEFF_CODON_CHANGE=cAc/cCc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_220493866_220494143;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC4A3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000273063 GT:AD:DP:GQ:PL 1/1:0,13:13:33.07:377,33,0
2 220494604 rs3214742 AG A 88.45 PASS AC=2;AF=1.00;AN=2;DB;DP=6;FS=0.0;HRun=10;HaplotypeScore=24.4993;IndelType=D;MQ=56.04;MQ0=0;QD=14.74;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNPEP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000535056 GT:AD:DP:GQ:PL 1/1:0,6:6:15:130,15,0
2 220494859 rs143751613 T C 163.95 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.312;DB;DP=13;Dels=0.0;FS=2.632;HRun=1;HaplotypeScore=1.6553;MQ=58.2;MQ0=0;MQRankSum=-0.555;QD=12.61;ReadPosRankSum=-0.312;SNPEFF_AMINO_ACID_CHANGE=L226P;SNPEFF_CODON_CHANGE=cTg/cCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_220494794_220495074;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC4A3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000273063 GT:AD:DP:GQ:PL 0/1:6,7:13:99:194,0,174
2 220495167 rs612078 A C 52.28 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.43;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNPEP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000535056 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:84,6,0
2 220497040 rs41272707 G A 490.60 PASS AB=0.174;AC=1;AF=0.50;AN=2;BaseQRankSum=1.388;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.97;MQ0=0;MQRankSum=1.03;QD=21.33;ReadPosRankSum=0.403;SNPEFF_AMINO_ACID_CHANGE=R141;SNPEFF_CODON_CHANGE=cgG/cgA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_220496984_220497164;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC4A3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000413743 GT:AD:DP:GQ:PL 0/1:4,19:23:99:521,0,100
2 220500423 rs589767 A G 231.24 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.9;SNPEFF_AMINO_ACID_CHANGE=E667;SNPEFF_CODON_CHANGE=gaA/gaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_220500395_220500613;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC4A3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000317151 GT:AD:DP:GQ:PL 1/1:0,8:8:21.07:264,21,0
2 220500426 rs639214 A G 202.85 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.98;SNPEFF_AMINO_ACID_CHANGE=A668;SNPEFF_CODON_CHANGE=gcA/gcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_220500395_220500613;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC4A3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000317151 GT:AD:DP:GQ:PL 1/1:0,7:7:21.04:236,21,0
2 220502137 rs621515 C T 87.19 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.06;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC4A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000413743 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:119,9,0
2 220502367 rs635311 A C 1750.42 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.8055;MQ=58.66;MQ0=0;QD=33.66;SNPEFF_AMINO_ACID_CHANGE=D867A;SNPEFF_CODON_CHANGE=gAt/gCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_220502303_220502533;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC4A3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000317151 GT:AD:DP:GQ:PL 1/1:0,52:52:99:1783,138,0
2 220505265 rs684428 T C 1782.76 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.6006;MQ=59.56;MQ0=0;QD=34.28;SNPEFF_AMINO_ACID_CHANGE=L1131;SNPEFF_CODON_CHANGE=Ttg/Ctg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_220505152_220505321;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC4A3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000317151 GT:AD:DP:GQ:PL 1/1:0,52:52:99:1816,138,0
2 221341460 rs75798452 C T 46.65 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.32;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AC019051.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000410164 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:78,6,0
2 221341871 rs4273207 C A 260.21 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.53;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AC067956.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000414512 GT:AD:DP:GQ:PL 1/1:0,8:8:21.07:293,21,0
2 222301357 rs3213844 T C 453.15 PASS AB=0.529;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.811;DB;DP=34;Dels=0.0;FS=3.128;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.017;QD=13.33;ReadPosRankSum=-1.087;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=EPHA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281821 GT:AD:DP:GQ:PL 0/1:18,16:34:99:483,0,602
2 222320427 rs2288627 G A 184.58 PASS AB=0.529;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.144;DB;DP=17;Dels=0.0;FS=3.274;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.337;QD=10.86;ReadPosRankSum=-0.529;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=EPHA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443796 GT:AD:DP:GQ:PL 0/1:9,8:17:99:215,0,320
2 222384480 rs2710511 A C 434.33 PASS AB=0.588;AC=1;AF=0.50;AN=2;BaseQRankSum=0.285;DB;DP=34;Dels=0.0;FS=3.436;HRun=1;HaplotypeScore=0.7887;MQ=59.45;MQ0=0;MQRankSum=0.209;QD=12.77;ReadPosRankSum=-1.804;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=EPHA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281821 GT:AD:DP:GQ:PL 0/1:20,14:34:99:464,0,525
2 223066017 rs3832105 A AC 730.80 PASS AB=0.69;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.275;DB;DP=60;FS=7.686;HRun=8;HaplotypeScore=135.4724;IndelType=I;MQ=60.34;MQ0=0;MQRankSum=0.783;QD=12.18;ReadPosRankSum=-0.328;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PAX3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409551 GT:AD:DP:GQ:PL 0/1:33,27:60:99:770,0,572
2 223096709 rs1965791 G C 75.77 PASS AB=0.688;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.566;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.55;MQ0=0;MQRankSum=0.453;QD=4.74;ReadPosRankSum=-0.906;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PAX3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336840 GT:AD:DP:GQ:PL 0/1:11,5:16:99:106,0,403
2 223158652 rs10712898 GT G 380.42 PASS AC=2;AF=1.00;AN=2;DB;DP=11;FS=0.0;HRun=2;HaplotypeScore=27.2949;IndelType=D;MQ=60.98;MQ0=0;QD=34.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PAX3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258387 GT:AD:DP:GQ:PL 1/1:0,11:11:33.11:422,33,0
2 223161889 rs12623857 A G 135.78 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.203;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.21;MQ0=0;MQRankSum=0.573;QD=12.34;ReadPosRankSum=-0.573;SNPEFF_AMINO_ACID_CHANGE=G43;SNPEFF_CODON_CHANGE=ggT/ggC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_223161697_223161932;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PAX3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000258387 GT:AD:DP:GQ:PL 0/1:4,6:11:30.32:166,0,30
2 223423362 rs4674664 A G 915.92 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.33;MQ0=0;QD=32.71;SNPEFF_AMINO_ACID_CHANGE=P315;SNPEFF_CODON_CHANGE=ccA/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_223423066_223425667;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SGPP2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000321276 GT:AD:DP:GQ:PL 1/1:0,28:28:75.23:949,75,0
2 223436402 rs3768973 C T 49.83 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.92;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FARSB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000536361 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
2 223436607 rs7185 C T 1349.58 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.52;SNPEFF_AMINO_ACID_CHANGE=V486I;SNPEFF_CODON_CHANGE=Gtt/Att;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_223436464_223436741;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FARSB;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000536361 GT:AD:DP:GQ:PL 1/1:0,38:38:99:1383,102,0
2 223436860 rs3768976 A G 138.70 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.148;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=-2.148;QD=13.87;ReadPosRankSum=-2.45;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FARSB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281828 GT:AD:DP:GQ:PL 0/1:5,5:10:99:169,0,179
2 223489249 rs35270022 GT G 157.16 PASS AB=0.647;AC=1;AF=0.50;AN=2;BaseQRankSum=2.054;DB;DP=11;FS=4.771;HRun=3;HaplotypeScore=33.2032;IndelType=D;MQ=60.0;MQ0=0;MQRankSum=0.248;QD=14.29;ReadPosRankSum=2.054;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FARSB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281828 GT:AD:DP:GQ:PL 0/1:5,6:11:99:196,0,103
2 223489293 rs2290031 C T 61.51 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=0.937;DB;DP=7;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.55;QD=8.79;ReadPosRankSum=-1.754;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FARSB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281828 GT:AD:DP:GQ:PL 0/1:4,3:7:91.50:92,0,138
2 223493435 rs2019357 G A 343.98 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9578;MQ=55.21;MQ0=0;QD=34.4;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FARSB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281828 GT:AD:DP:GQ:PL 1/1:0,10:10:30.08:377,30,0
2 223498167 rs7340227 T C 69.43 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.26;MQ0=0;MQRankSum=0.727;QD=17.36;ReadPosRankSum=-0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FARSB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281828 GT:AD:DP:GQ:PL 0/1:1,3:4:29.72:99,0,30
2 223499077 rs13410038 C T 216.11 PASS AB=0.786;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.494;DB;DP=42;Dels=0.0;FS=1.79;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.184;QD=5.15;ReadPosRankSum=0.674;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FARSB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281828 GT:AD:DP:GQ:PL 0/1:33,9:42:99:246,0,1029
2 223511751 rs11695525 T C 749.66 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.544;DB;DP=45;Dels=0.0;FS=1.204;HRun=0;HaplotypeScore=0.9665;MQ=58.76;MQ0=0;MQRankSum=0.822;QD=16.66;ReadPosRankSum=-0.846;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FARSB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281828 GT:AD:DP:GQ:PL 0/1:18,27:45:99:780,0,567
2 223558890 rs7592038 G A 47.98 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.99;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MOGAT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000446656 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
2 223559089 rs1868024 T C 1164.24 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.26;SNPEFF_AMINO_ACID_CHANGE=S163P;SNPEFF_CODON_CHANGE=Tca/Cca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_223559081_223559255;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MOGAT1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000446656 GT:AD:DP:GQ:PL 1/1:0,34:35:96.30:1197,96,0
2 223780921 rs12623448 G A 112 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.67;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACSL3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357430 GT:AD:DP:GQ:PL 1/1:0,6:6:12.04:144,12,0
2 223781017 rs143383460 AT A 460.15 PASS AC=2;AF=1.00;AN=2;DB;DP=28;FS=0.0;HRun=9;HaplotypeScore=113.7804;IndelType=D;MQ=60.0;MQ0=0;QD=16.43;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACSL3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357430 GT:AD:DP:GQ:PL 1/1:14,14:28:64.96:502,65,0
2 223784068 rs2119157 T G 90.49 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.16;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACSL3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463813 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:123,9,0
2 223785740 rs6756323 A G 324.09 PASS AB=0.548;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.975;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.5;MQ0=0;MQRankSum=1.185;QD=10.45;ReadPosRankSum=-0.603;SNPEFF_AMINO_ACID_CHANGE=A23;SNPEFF_CODON_CHANGE=gcA/gcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_223785672_223785786;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACSL3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000421680 GT:AD:DP:GQ:PL 0/1:17,14:31:99:354,0,507
2 223785846 rs6728234 G A 968.50 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.74;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACSL3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463813 GT:AD:DP:GQ:PL 1/1:0,25:25:75.22:1002,75,0
2 223787272 rs112454943 G GTCTC 704.69 PASS AC=2;AF=1.00;AN=2;DB;DP=12;FS=0.0;HRun=0;HaplotypeScore=38.0481;IndelType=I;MQ=58.91;MQ0=0;QD=58.72;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACSL3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463813 GT:AD:DP:GQ:PL 1/1:3,7:12:30.10:747,30,0
2 223787559 rs11891410 G A 891.39 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.01;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACSL3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463813 GT:AD:DP:GQ:PL 1/1:0,27:27:66.22:924,66,0
2 223787691 rs10932978 G A 334.46 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.45;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACSL3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463813 GT:AD:DP:GQ:PL 1/1:0,10:10:27.09:367,27,0
2 223789080 rs1866661 C G 320.99 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.1;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACSL3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000540115 GT:AD:DP:GQ:PL 1/1:0,10:10:27.09:354,27,0
2 223789526 rs7590226 G A 49.41 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.7;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACSL3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000540115 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
2 223793471 rs1550419 C T 52.59 PASS AB=0.727;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.978;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.566;QD=4.78;ReadPosRankSum=0.382;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACSL3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421680 GT:AD:DP:GQ:PL 0/1:8,3:11:82.58:83,0,287
2 223793480 rs1550420 C T 487.23 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.48;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACSL3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421680 GT:AD:DP:GQ:PL 1/1:0,13:13:39.13:520,39,0
2 223798141 rs6726737 A C 114.23 PASS AB=0.632;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.423;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.38;QD=6.01;ReadPosRankSum=-1.479;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACSL3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357430 GT:AD:DP:GQ:PL 0/1:12,7:19:99:144,0,404
2 223799207 rs935030 C T 203.74 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=57.05;MQ0=0;QD=25.47;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACSL3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474422 GT:AD:DP:GQ:PL 1/1:0,8:8:18.06:237,18,0
2 223806189 rs5838973 C CT 364.63 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.157;DB;DP=56;FS=5.518;HRun=4;HaplotypeScore=428.3752;IndelType=I;MQ=56.62;MQ0=0;MQRankSum=-0.542;QD=6.51;ReadPosRankSum=-0.857;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACSL3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357430 GT:AD:DP:GQ:PL 1/1:42,12:56:20.44:407,20,0
2 223806194 rs1550426 C T 767.65 HaplotypeScoreFilter13 AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.02;FS=0.0;HRun=9;HaplotypeScore=16.0691;MQ=56.49;MQ0=0;QD=14.22;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACSL3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357430 GT:AD:DP:GQ:PL 1/1:0,52:53:66.20:801,66,0
2 223917629 rs3795886 C T 1799.49 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.61;MQ0=0;QD=30.5;SNPEFF_AMINO_ACID_CHANGE=G27;SNPEFF_CODON_CHANGE=ggC/ggT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_223917526_223920355;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNE4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000281830 GT:AD:DP:GQ:PL 1/1:0,59:59:99:1832,147,0
2 223917812 rs10201907 T C 1056.26 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.01;SNPEFF_AMINO_ACID_CHANGE=P88;SNPEFF_CODON_CHANGE=ccT/ccC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_223917526_223920355;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNE4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000281830 GT:AD:DP:GQ:PL 1/1:0,33:33:90.26:1089,90,0
2 223917983 rs12621643 T G 861.01 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.97;MQ0=0;QD=31.89;SNPEFF_AMINO_ACID_CHANGE=D145E;SNPEFF_CODON_CHANGE=gaT/gaG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_223917526_223920355;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNE4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000281830 GT:AD:DP:GQ:PL 1/1:0,27:27:69.21:894,69,0
2 223918080 rs10189762 C G 445.99 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.25;MQ0=0;QD=27.87;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNE4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000488477 GT:AD:DP:GQ:PL 1/1:0,16:16:39.09:479,39,0
2 224266374 rs12617741 A G 49.99 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.0;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AC079120.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408137 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
2 224629876 rs10644138 C CCATCAT 509.14 PASS AB=0.76;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.308;DB;DP=19;FS=0.0;HRun=0;HaplotypeScore=91.1748;IndelType=I;MQ=52.84;MQ0=0;MQRankSum=-0.922;QD=26.8;ReadPosRankSum=-0.163;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AP1S3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409375 GT:AD:DP:GQ:PL 0/1:13,4:19:99:548,0,526
2 224634763 rs627678 G A 98.83 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.71;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AP1S3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000423110 GT:AD:DP:GQ:PL 1/1:0,4:4:12.02:131,12,0
2 224640497 rs76026027 G A 38.95 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.537;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.04;MQ0=0;MQRankSum=0.406;QD=6.49;ReadPosRankSum=0.406;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AP1S3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000396653 GT:AD:DP:GQ:PL 0/1:3,3:6:68.95:69,0,86
2 224743373 rs571111 C T 466.68 PASS AB=0.484;AC=1;AF=0.50;AN=2;BaseQRankSum=1.364;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.02;QD=15.05;ReadPosRankSum=-1.719;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=WDFY1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462702 GT:AD:DP:GQ:PL 0/1:15,16:31:99:497,0,459
2 224743591 rs602675 C T 125.09 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.02;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=WDFY1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233055 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:158,12,0
2 224744701 rs516849 A G 560.50 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.37;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=WDFY1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491453 GT:AD:DP:GQ:PL 1/1:0,15:15:45.15:594,45,0
2 224749578 rs60759568 T TCTTC 474.49 PASS AB=0.633;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.179;DB;DP=19;FS=0.0;HRun=0;HaplotypeScore=199.3833;IndelType=I;MQ=45.0;MQ0=0;MQRankSum=1.61;QD=24.97;ReadPosRankSum=2.931;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=WDFY1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233055 GT:AD:DP:GQ:PL 0/1:8,9:19:99:514,0,104
2 224758906 rs625150 C T 747.51 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.6;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=WDFY1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000429915 GT:AD:DP:GQ:PL 1/1:0,21:21:60.19:781,60,0
2 224763816 rs530065 C T 728.27 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.68;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=WDFY1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000483061 GT:AD:DP:GQ:PL 1/1:0,21:21:57.17:761,57,0
2 224765755 rs5839028 TA T 179.69 PASS AC=2;AF=1.00;AN=2;DB;DP=9;FS=0.0;HRun=11;HaplotypeScore=21.8729;IndelType=D;MQ=60.0;MQ0=0;QD=19.97;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=WDFY1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233055 GT:AD:DP:GQ:PL 1/1:0,9:9:26.97:222,27,0
2 224765894 rs604990 G A 1546.23 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.11;MQ0=0;QD=32.9;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=WDFY1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233055 GT:AD:DP:GQ:PL 1/1:0,47:47:99:1579,123,0
2 224770780 rs622896 C T 287.32 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.92;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=WDFY1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233055 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:320,24,0
2 224776821 rs544319 T C 117.95 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=54.2;MQ0=0;QD=23.59;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=WDFY1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233055 GT:AD:DP:GQ:PL 1/1:0,5:5:12.03:150,12,0
2 224777094 rs541712 T C 769.45 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.11;MQ0=0;QD=24.05;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=WDFY1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233055 GT:AD:DP:GQ:PL 1/1:0,32:32:72.17:802,72,0
2 224777105 rs113054269 G GTGAT 1500.32 PASS AC=2;AF=1.00;AN=2;DB;DP=25;FS=0.0;HRun=0;HaplotypeScore=148.8557;IndelType=I;MQ=53.66;MQ0=0;QD=60.01;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=WDFY1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233055 GT:AD:DP:GQ:PL 1/1:5,20:25:60.20:1542,60,0
2 224822043 rs3738960 C G 54.06 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.754;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=7.72;ReadPosRankSum=0.0;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MRPL44;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258383 GT:AD:DP:GQ:PL 0/1:3,4:7:84.05:84,0,106
2 224831891 rs6707243 G A 324.93 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.1;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MRPL44;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258383 GT:AD:DP:GQ:PL 1/1:0,9:9:27.08:358,27,0
2 224842150 rs7597833 T C 335.45 PASS AB=0.633;AC=1;AF=0.50;AN=2;BaseQRankSum=1.721;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7845;MQ=59.38;MQ0=0;MQRankSum=-0.215;QD=11.18;ReadPosRankSum=1.119;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SERPINE2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258405 GT:AD:DP:GQ:PL 0/1:19,11:30:99:365,0,693
2 225104088 rs10933049 A C 995.17 PASS AB=0.397;AC=1;AF=0.50;AN=2;BaseQRankSum=3.351;DB;DP=63;Dels=0.0;FS=1.103;HRun=0;HaplotypeScore=1.3123;MQ=59.12;MQ0=0;MQRankSum=0.063;QD=15.8;ReadPosRankSum=-0.976;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AC104802.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000390698 GT:AD:DP:GQ:PL 0/1:25,38:63:99:1025,0,813
2 225244614 rs150364918 G A 600.40 PASS AB=0.629;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.128;DB;DP=62;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.63;MQ0=0;MQRankSum=-0.831;QD=9.68;ReadPosRankSum=-1.268;SNPEFF_AMINO_ACID_CHANGE=L348;SNPEFF_CODON_CHANGE=ctC/ctT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_225243415_225244925;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM124B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000409685 GT:AD:DP:GQ:PL 0/1:39,23:62:99:630,0,1212
2 225266667 rs3845837 G A 38.48 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.988;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=6.41;ReadPosRankSum=0.406;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_2_225265754_225266802;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM124B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000243806 GT:AD:DP:GQ:PL 0/1:3,3:6:68.47:68,0,99
2 225376032 rs6743816 G C 703.95 PASS AB=0.596;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.083;DB;DP=57;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.15;QD=12.35;ReadPosRankSum=0.25;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CUL3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000432260 GT:AD:DP:GQ:PL 0/1:34,23:57:99:734,0,1142
2 225378382 rs3830376 ATAAT A 354.77 PASS AB=0.69;AC=1;AF=0.50;AN=2;BaseQRankSum=3.308;DB;DP=20;FS=0.0;HRun=0;HaplotypeScore=93.9816;IndelType=D;MQ=59.32;MQ0=0;MQRankSum=0.053;QD=17.74;ReadPosRankSum=0.578;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CUL3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264414 GT:AD:DP:GQ:PL 0/1:11,9:20:99:394,0,593
2 225630233 rs1045654 C T 40.20 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=13.4;ReadPosRankSum=0.736;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=DOCK10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258390 GT:AD:DP:GQ:PL 0/1:1,2:3:33.20:70,0,33
2 225661982 rs113535092 AT A 82.12 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=0.555;DB;DP=14;FS=0.0;HRun=12;HaplotypeScore=71.8554;IndelType=D;MQ=58.33;MQ0=0;MQRankSum=-0.377;QD=5.87;ReadPosRankSum=-1.954;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=DOCK10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258390 GT:AD:DP:GQ:PL 0/1:8,6:14:99:121,0,144
2 225664782 rs149917665 TAAA T 525.09 PASS AB=0.694;AC=1;AF=0.50;AN=2;BaseQRankSum=2.694;DB;DP=34;FS=3.424;HRun=8;HaplotypeScore=138.7883;IndelType=D;MQ=53.57;MQ0=0;MQRankSum=-2.332;QD=15.44;ReadPosRankSum=0.307;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=DOCK10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258390 GT:AD:DP:GQ:PL 0/1:19,15:34:99:564,0,1080
2 225665074 rs1560859 G A 983.04 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.14;MQ0=0;QD=36.41;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=DOCK10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258390 GT:AD:DP:GQ:PL 1/1:0,27:27:78.25:1016,78,0
2 225668717 rs141021252 ATG A 200.49 PASS AB=0.727;AC=1;AF=0.50;AN=2;BaseQRankSum=1.323;DB;DP=22;FS=0.0;HRun=0;HaplotypeScore=106.2951;IndelType=D;MQ=53.31;MQ0=1;MQRankSum=-0.718;QD=8.35;ReadPosRankSum=0.643;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=DOCK10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000489831 GT:AD:DP:GQ:PL 0/1:15,7:22:99:240,0,367
2 225670901 rs4674941 G C 1689.20 PASS AB=0.49;AC=1;AF=0.50;AN=2;BaseQRankSum=1.489;DB;DP=102;Dels=0.0;FS=4.94;HRun=0;HaplotypeScore=0.9983;MQ=59.77;MQ0=0;MQRankSum=-1.757;QD=16.56;ReadPosRankSum=-0.231;SNPEFF_AMINO_ACID_CHANGE=I1246M;SNPEFF_CODON_CHANGE=atC/atG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_225670843_225670954;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=DOCK10;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000409592 GT:AD:DP:GQ:PL 0/1:50,52:102:99:1719,0,1634
2 225672460 rs12328236 G A 1148.98 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=0.045;DB;DP=67;Dels=0.0;FS=0.947;HRun=0;HaplotypeScore=1.748;MQ=58.96;MQ0=0;MQRankSum=-2.273;QD=17.15;ReadPosRankSum=-0.676;SNPEFF_AMINO_ACID_CHANGE=Y1203;SNPEFF_CODON_CHANGE=taC/taT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_225672385_225672501;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=DOCK10;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000409592 GT:AD:DP:GQ:PL 0/1:30,36:67:99:1179,0,916
2 225681554 rs13406583 G C 248.09 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.134;DB;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.9509;MQ=57.97;MQ0=0;MQRankSum=0.669;QD=10.79;ReadPosRankSum=1.303;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=DOCK10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258390 GT:AD:DP:GQ:PL 0/1:11,11:22:99:278,0,369
2 225684166 rs7572725 A G 1318.75 PASS AB=0.549;AC=1;AF=0.50;AN=2;BaseQRankSum=3.211;DB;DP=113;Dels=0.0;FS=2.66;HRun=0;HaplotypeScore=1.8773;MQ=59.8;MQ0=0;MQRankSum=-0.332;QD=11.67;ReadPosRankSum=-0.955;SNPEFF_AMINO_ACID_CHANGE=L1082;SNPEFF_CODON_CHANGE=ctT/ctC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_225684163_225684246;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=DOCK10;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000409592 GT:AD:DP:GQ:PL 0/1:62,51:113:99:1349,0,1961
2 225688041 rs13405571 A G 87.31 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.38;QD=14.55;ReadPosRankSum=1.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=DOCK10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258390 GT:AD:DP:GQ:PL 0/1:2,4:6:62.60:117,0,63
2 225688100 rs13431331 G A 289.26 PASS AB=0.524;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.021;DB;DP=21;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.246;QD=13.77;ReadPosRankSum=-0.528;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=DOCK10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258390 GT:AD:DP:GQ:PL 0/1:11,10:21:99:319,0,380
2 225695334 rs112856141 TG T 677.47 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=4.647;DB;DP=60;FS=0.0;HRun=3;HaplotypeScore=150.668;IndelType=D;MQ=59.54;MQ0=0;MQRankSum=0.978;QD=11.29;ReadPosRankSum=-0.461;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=DOCK10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258390 GT:AD:DP:GQ:PL 0/1:36,24:60:99:717,0,1225
2 225699079 rs10177782 T C 513.62 PASS AB=0.385;AC=1;AF=0.50;AN=2;BaseQRankSum=2.135;DB;DP=26;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.237;QD=19.75;ReadPosRankSum=-1.08;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=DOCK10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472652 GT:AD:DP:GQ:PL 0/1:10,16:26:99:544,0,305
2 225702565 rs6724332 G A 976.97 PASS AB=0.557;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.056;DB;DP=79;Dels=0.0;FS=3.411;HRun=0;HaplotypeScore=0.9933;MQ=60.0;MQ0=0;MQRankSum=-1.301;QD=12.37;ReadPosRankSum=-0.068;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=DOCK10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258390 GT:AD:DP:GQ:PL 0/1:44,35:79:99:1007,0,1229
2 225709636 rs11682884 G A 143.52 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=0.101;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.101;QD=11.04;ReadPosRankSum=-0.377;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=DOCK10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258390 GT:AD:DP:GQ:PL 0/1:7,6:13:99:174,0,254
2 225709926 rs7577271 A G 669.22 PASS AB=0.49;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.907;DB;DP=49;Dels=0.0;FS=2.722;HRun=0;HaplotypeScore=0.0;MQ=58.76;MQ0=0;MQRankSum=1.103;QD=13.66;ReadPosRankSum=-1.742;SNPEFF_AMINO_ACID_CHANGE=S819;SNPEFF_CODON_CHANGE=agT/agC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_225709920_225710041;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=DOCK10;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000409592 GT:AD:DP:GQ:PL 0/1:24,25:49:99:699,0,716
2 225719571 rs72305904 GCCAACCAA G 379.16 PASS AB=0.793;AC=1;AF=0.50;AN=2;BaseQRankSum=2.367;DB;DP=23;FS=0.0;HRun=0;HaplotypeScore=177.971;IndelType=D;MQ=48.65;MQ0=0;MQRankSum=-1.635;QD=16.49;ReadPosRankSum=0.135;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=DOCK10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258390 GT:AD:DP:GQ:PL 0/1:17,6:23:99:418,0,499
2 225719781 rs143611482 G GACAC 1129.42 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.179;DB;DP=51;FS=0.0;HRun=0;HaplotypeScore=283.7891;IndelType=I;MQ=55.63;MQ0=0;MQRankSum=0.485;QD=22.15;ReadPosRankSum=-0.347;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=DOCK10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258390 GT:AD:DP:GQ:PL 1/1:28,16:51:24.10:1171,24,0
2 225727431 rs7589474 T C 811.44 PASS AB=0.508;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.678;DB;DP=61;Dels=0.0;FS=2.3;HRun=0;HaplotypeScore=0.0;MQ=59.62;MQ0=0;MQRankSum=-0.067;QD=13.3;ReadPosRankSum=-0.377;SNPEFF_AMINO_ACID_CHANGE=Q539;SNPEFF_CODON_CHANGE=caA/caG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_225727381_225727463;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=DOCK10;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000409592 GT:AD:DP:GQ:PL 0/1:31,30:61:99:841,0,874
2 225739574 rs10181328 C T 162.50 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=3.325;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.733;QD=9.03;ReadPosRankSum=0.047;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=DOCK10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258390 GT:AD:DP:GQ:PL 0/1:12,6:18:99:192,0,347
2 225740593 rs11891443 T C 153.67 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=1.221;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.322;QD=19.21;ReadPosRankSum=1.221;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=DOCK10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258390 GT:AD:DP:GQ:PL 0/1:3,5:8:99:184,0,103
2 225750323 rs140249202 A G 514.40 PASS AB=0.433;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.348;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.36;MQ0=0;MQRankSum=0.084;QD=17.15;ReadPosRankSum=0.963;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=DOCK10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471810 GT:AD:DP:GQ:PL 0/1:13,17:30:99:544,0,425
2 225750348 rs11337772 TA T 365.48 PASS AB=0.683;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.149;DB;DP=41;FS=0.0;HRun=9;HaplotypeScore=153.429;IndelType=D;MQ=60.53;MQ0=0;MQRankSum=0.548;QD=8.91;ReadPosRankSum=-0.098;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=DOCK10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471810 GT:AD:DP:GQ:PL 0/1:22,19:41:99:405,0,575
2 225750753 rs10197805 T C 1231.59 PASS AB=0.513;AC=1;AF=0.50;AN=2;BaseQRankSum=3.465;DB;DP=80;Dels=0.0;FS=1.018;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=-0.587;QD=15.39;ReadPosRankSum=2.82;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=DOCK10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471810 GT:AD:DP:GQ:PL 0/1:41,39:80:99:1262,0,1228
2 225750861 rs2304336 C T 1881.61 PASS AB=0.528;AC=1;AF=0.50;AN=2;BaseQRankSum=3.701;DB;DP=144;Dels=0.0;FS=1.321;HRun=0;HaplotypeScore=2.1565;MQ=60.0;MQ0=0;MQRankSum=0.79;QD=13.07;ReadPosRankSum=2.233;SNPEFF_AMINO_ACID_CHANGE=A171;SNPEFF_CODON_CHANGE=gcG/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_225750780_225750902;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=DOCK10;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000409592 GT:AD:DP:GQ:PL 0/1:76,68:144:99:1912,0,2079
2 225751256 rs147369864 TA T 229.28 PASS AB=0.638;AC=1;AF=0.50;AN=2;BaseQRankSum=2.931;DB;DP=30;FS=0.0;HRun=13;HaplotypeScore=161.908;IndelType=D;MQ=59.59;MQ0=0;MQRankSum=-0.289;QD=7.64;ReadPosRankSum=-1.693;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=DOCK10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258390 GT:AD:DP:GQ:PL 0/1:13,16:30:84.31:268,0,84
2 225751293 rs2304334 A G 483.99 PASS AB=0.318;AC=1;AF=0.50;AN=2;BaseQRankSum=0.846;DB;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.198;QD=22.0;ReadPosRankSum=0.211;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=DOCK10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258390 GT:AD:DP:GQ:PL 0/1:7,15:22:99:514,0,223
2 225781241 rs62186350 G C 76.66 MQFilter40 AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=1.159;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=38.13;MQ0=0;MQRankSum=-0.876;QD=8.52;ReadPosRankSum=-0.876;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=DOCK10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258390 GT:AD:DP:GQ:PL 0/1:5,4:9:99:107,0,155
2 225781249 rs62186351 C G 104.08 MQFilter40 AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=0.825;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=7.7321;MQ=36.64;MQ0=0;MQRankSum=-0.387;QD=9.46;ReadPosRankSum=-0.825;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=DOCK10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258390 GT:AD:DP:GQ:PL 0/1:6,5:11:99:134,0,182
2 225781670 rs13013616 T C 72.80 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.2;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=DOCK10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258390 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:105,9,0
2 225796112 rs17271574 G A 87.98 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=DOCK10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258390 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:120,9,0
2 225796151 rs9808089 C A 91.71 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.536;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.6;QD=7.64;ReadPosRankSum=-1.468;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=DOCK10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258390 GT:AD:DP:GQ:PL 0/1:8,4:12:99:122,0,293
2 225796458 rs35061287 ATC A 715.51 PASS AB=0.708;AC=1;AF=0.50;AN=2;BaseQRankSum=5.93;DB;DP=51;FS=8.085;HRun=0;HaplotypeScore=154.5786;IndelType=D;MQ=60.63;MQ0=0;MQRankSum=0.232;QD=14.03;ReadPosRankSum=0.515;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=DOCK10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258390 GT:AD:DP:GQ:PL 0/1:30,21:51:99:755,0,1386
2 225796610 rs10498171 A T 40.99 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.5;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=DOCK10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258390 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:72,6,0
2 225811581 rs13021295 T A 1647.53 PASS AB=0.469;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.6;DB;DP=113;Dels=0.0;FS=10.671;HRun=1;HaplotypeScore=0.9947;MQ=59.6;MQ0=0;MQRankSum=1.364;QD=14.45;ReadPosRankSum=0.659;SNPEFF_AMINO_ACID_CHANGE=I30F;SNPEFF_CODON_CHANGE=Atc/Ttc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_225811564_225811782;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=DOCK10;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000409592 GT:AD:DP:GQ:PL 0/1:53,60:113:99:1678,0,1672
2 225811592 rs78257220 T A 1802.63 PASS AB=0.464;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.824;DB;DP=110;Dels=0.0;FS=12.771;HRun=0;HaplotypeScore=3.6954;MQ=59.58;MQ0=0;MQRankSum=-0.97;QD=16.39;ReadPosRankSum=0.702;SNPEFF_AMINO_ACID_CHANGE=N26I;SNPEFF_CODON_CHANGE=aAc/aTc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_225811564_225811782;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=DOCK10;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000409592 GT:AD:DP:GQ:PL 0/1:51,59:110:99:1833,0,1628
2 226265719 rs10578238 CTGG C 1652.28 PASS AC=2;AF=1.00;AN=2;DB;DP=33;FS=0.0;HRun=0;HaplotypeScore=144.9979;IndelType=D;MQ=59.26;MQ0=0;QD=50.07;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_2_226265364_226265759;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA1486;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272907 GT:AD:DP:GQ:PL 1/1:1,32:33:96.33:1694,96,0
2 226273490 rs2048935 T C 2647.19 PASS AC=2;AF=1.00;AN=2;DB;DP=73;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9159;MQ=60.0;MQ0=0;QD=36.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA1486;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272907 GT:AD:DP:GQ:PL 1/1:0,73:73:99:2680,196,0
2 226273689 rs2048936 T C 4358.30 PASS AC=2;AF=1.00;AN=2;DB;DP=125;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=59.18;MQ0=0;QD=34.87;SNPEFF_AMINO_ACID_CHANGE=Y31;SNPEFF_CODON_CHANGE=taT/taC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_226273580_226273817;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA1486;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000272907 GT:AD:DP:GQ:PL 1/1:0,125:125:99:4358,346,0
2 226447735 rs3828256 C T 376.95 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.2;MQ0=0;QD=29.0;SNPEFF_AMINO_ACID_CHANGE=S534;SNPEFF_CODON_CHANGE=tcC/tcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_226446657_226447751;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA1486;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000272907 GT:AD:DP:GQ:PL 1/1:0,13:13:30.10:410,30,0
2 226447844 rs6436570 G A 77.77 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.21;MQ0=0;QD=15.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA1486;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272907 GT:AD:DP:GQ:PL 1/1:0,5:5:9.03:110,9,0
2 226491770 rs3748993 A C 1661.91 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.62;MQ0=0;QD=33.92;SNPEFF_AMINO_ACID_CHANGE=T586P;SNPEFF_CODON_CHANGE=Aca/Cca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_226491633_226491842;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA1486;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000272907 GT:AD:DP:GQ:PL 1/1:0,49:49:99:1695,132,0
2 226516429 rs3791734 A G 1792.04 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.19;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA1486;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272907 GT:AD:DP:GQ:PL 1/1:0,54:54:99:1825,144,0
2 227660544 rs1801278 C T 1162.52 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=2.248;DB;DP=72;Dels=0.0;FS=1.951;HRun=0;HaplotypeScore=0.0;MQ=59.68;MQ0=0;MQRankSum=0.156;QD=16.15;ReadPosRankSum=-0.191;SNPEFF_AMINO_ACID_CHANGE=G971R;SNPEFF_CODON_CHANGE=Ggg/Agg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_227659705_227664475;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IRS1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000305123 GT:AD:DP:GQ:PL 0/1:32,40:72:99:1193,0,957
2 227662753 rs2234931 C T 875.38 PASS AB=0.484;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.48;DB;DP=64;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9159;MQ=59.28;MQ0=0;MQRankSum=-0.042;QD=13.68;ReadPosRankSum=0.367;SNPEFF_AMINO_ACID_CHANGE=G234;SNPEFF_CODON_CHANGE=ggG/ggA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_227659705_227664475;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IRS1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000305123 GT:AD:DP:GQ:PL 0/1:31,33:64:99:905,0,872
2 227771389 rs978909 T G 1785.76 PASS AB=0.443;AC=1;AF=0.50;AN=2;BaseQRankSum=-7.087;DB;DP=122;Dels=0.0;FS=0.984;HRun=0;HaplotypeScore=0.0;MQ=59.81;MQ0=0;MQRankSum=-0.591;QD=14.64;ReadPosRankSum=-0.997;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RHBDD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341329 GT:AD:DP:GQ:PL 0/1:54,68:122:99:1816,0,1733
2 227773466 rs3820928 T C 470.78 PASS AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=2.568;DB;DP=38;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.933;MQ=59.39;MQ0=0;MQRankSum=-0.319;QD=12.39;ReadPosRankSum=-0.562;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RHBDD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341329 GT:AD:DP:GQ:PL 0/1:20,18:38:99:501,0,646
2 227872182 rs2228557 G A 3172.87 PASS AB=0.414;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.967;DB;DP=186;DS;Dels=0.0;FS=1.367;HRun=5;HaplotypeScore=1.8664;MQ=59.75;MQ0=0;MQRankSum=-1.935;QD=17.06;ReadPosRankSum=0.046;SNPEFF_AMINO_ACID_CHANGE=F1641;SNPEFF_CODON_CHANGE=ttC/ttT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_227872041_227872304;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000329662 GT:AD:DP:GQ:PL 0/1:77,109:186:99:3203,0,2340
2 227872995 rs2228555 T C 223.74 PASS AB=0.385;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.437;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.2;MQ0=0;MQRankSum=1.855;QD=17.21;ReadPosRankSum=-0.817;SNPEFF_AMINO_ACID_CHANGE=V1513;SNPEFF_CODON_CHANGE=gtA/gtG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_227872734_227873020;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000329662 GT:AD:DP:GQ:PL 0/1:5,8:13:99:254,0,122
2 227873028 rs13419076 A G 119.99 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.001;DB;DP=9;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=57.39;MQ0=0;MQRankSum=-0.573;QD=13.33;ReadPosRankSum=-0.573;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329662 GT:AD:DP:GQ:PL 0/1:3,6:9:99:150,0,103
2 227874957 rs4423583 C T 357.79 PASS AB=0.649;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.611;DB;DP=37;Dels=0.0;FS=2.745;HRun=1;HaplotypeScore=0.9983;MQ=60.0;MQ0=0;MQRankSum=-1.67;QD=9.67;ReadPosRankSum=0.716;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329662 GT:AD:DP:GQ:PL 0/1:24,13:37:99:388,0,843
2 227877037 rs10188770 G A 307.26 PASS AB=0.381;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.585;DB;DP=21;Dels=0.0;FS=6.043;HRun=0;HaplotypeScore=0.0;MQ=58.89;MQ0=0;MQRankSum=-1.743;QD=14.63;ReadPosRankSum=0.238;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329662 GT:AD:DP:GQ:PL 0/1:8,13:21:99:337,0,244
2 227886773 rs3752895 A G 1405.54 PASS AB=0.596;AC=1;AF=0.50;AN=2;BaseQRankSum=3.677;DB;DP=136;Dels=0.0;FS=0.687;HRun=4;HaplotypeScore=0.9665;MQ=59.52;MQ0=0;MQRankSum=0.9;QD=10.33;ReadPosRankSum=0.341;SNPEFF_AMINO_ACID_CHANGE=S1400P;SNPEFF_CODON_CHANGE=Tca/Cca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_227886764_227886889;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000329662 GT:AD:DP:GQ:PL 0/1:81,55:136:99:1436,0,2452
2 227886925 rs3752896 C T 1382.19 PASS AB=0.457;AC=1;AF=0.50;AN=2;BaseQRankSum=6.39;DB;DP=94;Dels=0.0;FS=1.828;HRun=0;HaplotypeScore=0.9832;MQ=59.75;MQ0=0;MQRankSum=0.653;QD=14.7;ReadPosRankSum=-1.093;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329662 GT:AD:DP:GQ:PL 0/1:43,51:94:99:1412,0,1303
2 227890283 rs2177596 A T 89.16 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329662 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:121,9,0
2 227892428 rs10199655 T C 457.94 PASS AB=0.516;AC=1;AF=0.50;AN=2;BaseQRankSum=4.289;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.376;QD=14.77;ReadPosRankSum=2.471;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329662 GT:AD:DP:GQ:PL 0/1:16,15:31:99:488,0,557
2 227892619 rs3817490 C T 1027.93 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=4.697;DB;DP=81;Dels=0.0;FS=2.144;HRun=0;HaplotypeScore=1.5661;MQ=59.77;MQ0=0;MQRankSum=0.74;QD=12.69;ReadPosRankSum=1.249;SNPEFF_AMINO_ACID_CHANGE=P1360;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_227892618_227892725;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000329662 GT:AD:DP:GQ:PL 0/1:40,40:81:99:1058,0,1081
2 227892720 rs2229813 C T 318.58 PASS AB=0.478;AC=1;AF=0.50;AN=2;BaseQRankSum=1.877;DB;DP=23;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.99;MQ0=0;MQRankSum=0.339;QD=13.85;ReadPosRankSum=-0.092;SNPEFF_AMINO_ACID_CHANGE=V1327M;SNPEFF_CODON_CHANGE=Gtg/Atg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_227892618_227892725;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000329662 GT:AD:DP:GQ:PL 0/1:11,12:23:99:349,0,325
2 227895125 rs1917127 A G 522.59 PASS AB=0.512;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.639;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.196;QD=12.75;ReadPosRankSum=-0.039;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329662 GT:AD:DP:GQ:PL 0/1:21,20:41:99:553,0,735
2 227896652 rs13423714 C G 58.94 PASS AB=0.706;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=17;Dels=0.0;FS=5.237;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.227;QD=3.47;ReadPosRankSum=0.34;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329662 GT:AD:DP:GQ:PL 0/1:12,5:17:88.93:89,0,384
2 227896886 rs2229812 C T 524.06 PASS AB=0.535;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.146;DB;DP=43;Dels=0.0;FS=4.36;HRun=3;HaplotypeScore=3.825;MQ=60.0;MQ0=0;MQRankSum=-1.373;QD=12.19;ReadPosRankSum=1.297;SNPEFF_AMINO_ACID_CHANGE=K1228;SNPEFF_CODON_CHANGE=aaG/aaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_227896864_227896992;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000329662 GT:AD:DP:GQ:PL 0/1:23,20:43:99:554,0,719
2 227896976 rs10203363 C T 407.80 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.154;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.769;QD=15.68;ReadPosRankSum=-0.462;SNPEFF_AMINO_ACID_CHANGE=G1198;SNPEFF_CODON_CHANGE=ggG/ggA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_227896864_227896992;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000329662 GT:AD:DP:GQ:PL 0/1:13,13:26:99:438,0,443
2 227906756 rs146777900 G A 192.60 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=1.27;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.318;QD=12.04;ReadPosRankSum=-1.482;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329662 GT:AD:DP:GQ:PL 0/1:9,7:16:99:223,0,316
2 227912331 rs2272200 G A 65.05 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=0.322;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.684;QD=8.13;ReadPosRankSum=0.322;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329662 GT:AD:DP:GQ:PL 0/1:5,3:8:95.04:95,0,182
2 227914625 rs2272202 T C 75.16 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=1.3;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.55;QD=10.74;ReadPosRankSum=-0.937;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329662 GT:AD:DP:GQ:PL 0/1:4,3:7:99:105,0,145
2 227914655 rs2272203 C G 142.50 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.749;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9578;MQ=60.0;MQ0=0;MQRankSum=-1.408;QD=12.95;ReadPosRankSum=0.717;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329662 GT:AD:DP:GQ:PL 0/1:6,5:11:99:172,0,219
2 227914975 rs2251223 T G 32.50 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9734;MQ=60.0;MQ0=0;MQRankSum=0.72;QD=5.42;ReadPosRankSum=1.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329662 GT:AD:DP:GQ:PL 0/1:4,2:6:62.49:62,0,135
2 227915601 rs2272204 G T 231.37 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.466;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.71;MQ0=0;MQRankSum=0.311;QD=12.85;ReadPosRankSum=0.4;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329662 GT:AD:DP:GQ:PL 0/1:10,8:18:99:261,0,315
2 227915832 rs1800517 G A 874.24 PASS AB=0.515;AC=1;AF=0.50;AN=2;BaseQRankSum=1.892;DB;DP=66;Dels=0.0;FS=6.933;HRun=0;HaplotypeScore=0.9989;MQ=59.37;MQ0=0;MQRankSum=-0.599;QD=13.25;ReadPosRankSum=-0.447;SNPEFF_AMINO_ACID_CHANGE=P1004L;SNPEFF_CODON_CHANGE=cCg/cTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_227915693_227915874;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000329662 GT:AD:DP:GQ:PL 0/1:34,32:66:99:904,0,1000
2 227916039 rs2894626 T C 39.84 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.026;QD=9.96;ReadPosRankSum=-1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329662 GT:AD:DP:GQ:PL 0/1:2,2:4:69.84:70,0,73
2 227917240 rs3769644 C G 149.84 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.39;MQ0=0;MQRankSum=1.159;QD=16.65;ReadPosRankSum=0.361;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329662 GT:AD:DP:GQ:PL 0/1:4,5:9:98.19:180,0,98
2 227920474 rs1320406 G A 51.22 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329662 GT:AD:DP:GQ:PL 1/1:1,2:3:6.02:82,6,0
2 227922015 rs4566357 A G 30.55 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=10.18;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329662 GT:AD:DP:GQ:PL 0/1:1,2:3:32.73:61,0,33
2 227922104 rs7567789 T C 139.24 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=9;Dels=0.0;FS=2.808;HRun=0;HaplotypeScore=0.0;MQ=57.39;MQ0=0;MQRankSum=-0.729;QD=15.47;ReadPosRankSum=1.159;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329662 GT:AD:DP:GQ:PL 0/1:4,5:9:99:169,0,103
2 227922109 rs7567796 T A 147.18 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.466;DB;DP=11;Dels=0.0;FS=2.463;HRun=0;HaplotypeScore=0.0;MQ=57.87;MQ0=0;MQRankSum=0.387;QD=13.38;ReadPosRankSum=1.031;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329662 GT:AD:DP:GQ:PL 0/1:5,6:11:99:177,0,107
2 227922454 rs2141829 G A 37.95 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=7.59;ReadPosRankSum=1.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329662 GT:AD:DP:GQ:PL 0/1:3,2:5:67.94:68,0,107
2 227922470 rs2141828 T C 37.84 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.231;QD=7.57;ReadPosRankSum=0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329662 GT:AD:DP:GQ:PL 0/1:3,2:5:67.83:68,0,104
2 227923952 rs6436649 A G 159.26 PASS AB=0.588;AC=1;AF=0.50;AN=2;BaseQRankSum=2.115;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.271;QD=9.37;ReadPosRankSum=0.597;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329662 GT:AD:DP:GQ:PL 0/1:10,7:17:99:189,0,356
2 227925097 rs6436650 C T 214.14 PASS AB=0.3;AC=1;AF=0.50;AN=2;BaseQRankSum=1.818;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.66;MQ0=0;MQRankSum=-0.731;QD=21.41;ReadPosRankSum=0.296;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329662 GT:AD:DP:GQ:PL 0/1:3,7:10:81.37:244,0,81
2 227927189 rs35717623 GT G 72.26 PASS AB=0.68;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.201;DB;DP=17;FS=0.0;HRun=13;HaplotypeScore=86.128;IndelType=D;MQ=59.28;MQ0=0;MQRankSum=0.663;QD=4.25;ReadPosRankSum=0.201;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329662 GT:AD:DP:GQ:PL 0/1:9,8:17:99:111,0,159
2 227942951 rs7588113 T C 39.83 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=13.28;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329662 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:71,6,0
2 227947053 rs10187611 C G 184.52 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.365;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.365;QD=18.45;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329662 GT:AD:DP:GQ:PL 0/1:4,6:10:99:215,0,134
2 227954599 rs2229814 G A 421.61 PASS AB=0.379;AC=1;AF=0.50;AN=2;BaseQRankSum=0.292;DB;DP=29;Dels=0.0;FS=6.451;HRun=0;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=2.18;QD=14.54;ReadPosRankSum=0.382;SNPEFF_AMINO_ACID_CHANGE=P482S;SNPEFF_CODON_CHANGE=Cca/Tca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_227954584_227954673;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000329662 GT:AD:DP:GQ:PL 0/1:11,18:29:99:452,0,300
2 227966298 rs112618294 T TA 79.76 PASS AB=0.737;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.717;DB;DP=14;FS=3.424;HRun=11;HaplotypeScore=62.2518;IndelType=I;MQ=56.62;MQ0=0;MQRankSum=0.466;QD=5.7;ReadPosRankSum=0.143;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329662 GT:AD:DP:GQ:PL 0/1:9,5:14:99:119,0,106
2 227967330 rs1574391 C G 33.99 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.21;MQ0=0;MQRankSum=0.358;QD=6.8;ReadPosRankSum=-1.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329662 GT:AD:DP:GQ:PL 0/1:3,2:5:63.98:64,0,100
2 227967601 rs11274738 ACAATATTTCAGCAATAGGGAAAG A 2294.48 PASS AB=0.844;AC=1;AF=0.50;AN=2;BaseQRankSum=5.157;DB;DP=76;FS=5.545;HRun=0;HaplotypeScore=1295.3645;IndelType=D;MQ=53.07;MQ0=0;MQRankSum=-3.45;QD=30.19;ReadPosRankSum=-0.273;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329662 GT:AD:DP:GQ:PL 0/1:62,14:76:99:2334,0,7727
2 227967830 rs111939542 GA G 325.01 PASS AB=0.687;AC=1;AF=0.50;AN=2;BaseQRankSum=3.174;DB;DP=46;FS=1.292;HRun=11;HaplotypeScore=150.5125;IndelType=D;MQ=58.82;MQ0=0;MQRankSum=2.332;QD=7.07;ReadPosRankSum=-0.284;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329662 GT:AD:DP:GQ:PL 0/1:25,20:46:99:364,0,633
2 227973095 rs7600536 A T 460.86 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.191;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9469;MQ=60.0;MQ0=0;MQRankSum=-0.139;QD=18.43;ReadPosRankSum=-0.139;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329662 GT:AD:DP:GQ:PL 0/1:10,15:25:99:491,0,349
2 227973410 rs55741079 C A 581.64 PASS AB=0.578;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.816;DB;DP=45;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9998;MQ=60.0;MQ0=0;MQRankSum=1.712;QD=12.93;ReadPosRankSum=0.379;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329662 GT:AD:DP:GQ:PL 0/1:26,19:45:99:612,0,889
2 227973623 rs12475686 A G 182.30 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=2.074;DB;DP=13;Dels=0.0;FS=2.276;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.811;QD=14.02;ReadPosRankSum=-0.101;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329662 GT:AD:DP:GQ:PL 0/1:6,7:13:99:212,0,202
2 227974113 rs6436654 A G 823.91 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.82;DB;DP=54;Dels=0.0;FS=8.297;HRun=0;HaplotypeScore=1.8835;MQ=59.57;MQ0=0;MQRankSum=0.432;QD=15.26;ReadPosRankSum=-0.035;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329662 GT:AD:DP:GQ:PL 0/1:27,27:54:99:854,0,861
2 227974191 rs6436655 A G 197.58 PASS AB=0.591;AC=1;AF=0.50;AN=2;BaseQRankSum=0.178;DB;DP=22;Dels=0.0;FS=4.801;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=0.036;QD=8.98;ReadPosRankSum=-1.528;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329662 GT:AD:DP:GQ:PL 0/1:13,9:22:99:228,0,391
2 227979533 rs12465531 A C 72.07 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.406;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.988;QD=12.01;ReadPosRankSum=1.537;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329662 GT:AD:DP:GQ:PL 0/1:3,3:6:99:102,0,107
2 228102723 rs13424243 G C 1514.66 PASS AB=0.569;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.439;DB;DP=154;Dels=0.0;FS=1.43;HRun=1;HaplotypeScore=0.9947;MQ=59.7;MQ0=0;MQRankSum=-0.278;QD=9.84;ReadPosRankSum=-0.002;SNPEFF_AMINO_ACID_CHANGE=G43R;SNPEFF_CODON_CHANGE=Ggg/Cgg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_228102684_228102740;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000315699 GT:AD:DP:GQ:PL 0/1:87,66:154:99:1545,0,2602
2 228102752 rs1882435 C A 1679.71 PASS AB=0.412;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.831;DB;DP=102;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=59.77;MQ0=0;MQRankSum=-2.077;QD=16.47;ReadPosRankSum=0.486;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315699 GT:AD:DP:GQ:PL 0/1:42,60:102:99:1710,0,1283
2 228104760 rs7579991 C T 91.60 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.9;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315699 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:124,9,0
2 228109347 rs4675159 A G 163.14 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.19;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315699 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:196,15,0
2 228109626 rs11386485 T TG 6855.57 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.713;DB;DP=183;FS=3.632;HRun=0;HaplotypeScore=467.674;IndelType=I;MQ=61.36;MQ0=0;MQRankSum=1.674;QD=37.46;ReadPosRankSum=1.039;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315699 GT:AD:DP:GQ:PL 1/1:7,176:183:99:6856,523,0
2 228109784 rs6750210 C T 1935.40 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.75;MQ0=0;QD=37.22;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315699 GT:AD:DP:GQ:PL 1/1:0,52:52:99:1968,144,0
2 228111435 rs10178458 T C 2260.78 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;QD=33.74;SNPEFF_AMINO_ACID_CHANGE=L141P;SNPEFF_CODON_CHANGE=cTg/cCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_228111401_228111454;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000315699 GT:AD:DP:GQ:PL 1/1:0,67:67:99:2294,175,0
2 228111600 rs10168566 G T 632.84 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.78;MQ0=0;QD=33.31;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315699 GT:AD:DP:GQ:PL 1/1:0,19:19:51.16:666,51,0
2 228111604 rs10168567 G T 617.26 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.71;MQ0=0;QD=34.29;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315699 GT:AD:DP:GQ:PL 1/1:0,18:18:48.16:650,48,0
2 228111651 rs10192026 A G 421.19 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.87;MQ0=0;QD=38.29;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315699 GT:AD:DP:GQ:PL 1/1:0,11:11:33.11:454,33,0
2 228112186 rs4321358 A G 1298.06 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.39;MQ0=0;QD=34.16;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315699 GT:AD:DP:GQ:PL 1/1:0,38:38:99:1331,105,0
2 228112890 rs6436668 G A 168.58 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.08;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315699 GT:AD:DP:GQ:PL 1/1:0,7:7:15.05:201,15,0
2 228113175 rs6436669 A G 1887.35 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9997;MQ=60.0;MQ0=0;QD=33.7;SNPEFF_AMINO_ACID_CHANGE=E162G;SNPEFF_CODON_CHANGE=gAa/gGa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_228113151_228113236;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000315699 GT:AD:DP:GQ:PL 1/1:0,55:56:99:1920,147,0
2 228116318 rs4675160 C G 93.19 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.06;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315699 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:125,9,0
2 228118403 rs12621551 T G 3026.80 PASS AC=2;AF=1.00;AN=2;DB;DP=82;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9469;MQ=59.72;MQ0=0;QD=36.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315699 GT:AD:DP:GQ:PL 1/1:0,82:82:99:3060,226,0
2 228118596 rs12694724 A G 41.87 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.93;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315699 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:73,6,0
2 228118949 rs7559693 C G 127.44 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.936;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7675;MQ=58.33;MQ0=0;MQRankSum=-0.545;QD=9.1;ReadPosRankSum=-1.67;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315699 GT:AD:DP:GQ:PL 0/1:7,7:14:99:157,0,242
2 228121101 rs55703767 G T 1334.06 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.679;DB;DP=108;Dels=0.0;FS=1.628;HRun=0;HaplotypeScore=1.7262;MQ=59.79;MQ0=0;MQRankSum=0.349;QD=12.35;ReadPosRankSum=-1.784;SNPEFF_AMINO_ACID_CHANGE=D326Y;SNPEFF_CODON_CHANGE=Gat/Tat;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_228121059_228121112;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000315699 GT:AD:DP:GQ:PL 0/1:60,48:108:99:1364,0,1939
2 228121147 rs10933172 T G 1913.57 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.818;DB;DP=137;Dels=0.0;FS=4.129;HRun=3;HaplotypeScore=1.5782;MQ=59.66;MQ0=0;MQRankSum=-0.783;QD=13.97;ReadPosRankSum=-0.977;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315699 GT:AD:DP:GQ:PL 0/1:64,73:137:99:1944,0,2030
2 228122606 rs12621020 T C 38.89 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=19.44;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315699 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:70,6,0
2 228128540 rs10205042 C T 668.78 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.44;SNPEFF_AMINO_ACID_CHANGE=L399;SNPEFF_CODON_CHANGE=Ctg/Ttg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_228128491_228128660;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000315699 GT:AD:DP:GQ:PL 1/1:0,20:20:54.17:702,54,0
2 228135426 rs73993878 G A 827.29 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.6;DB;DP=26;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.4;QD=31.82;ReadPosRankSum=-0.933;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315699 GT:AD:DP:GQ:PL 1/1:1,25:26:66.21:860,66,0
2 228145543 rs6436671 C T 292.76 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.6;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315699 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:326,24,0
2 228146991 rs72371878 AATAT A 239.29 PASS AC=2;AF=1.00;AN=2;DB;DP=8;FS=0.0;HRun=0;HaplotypeScore=58.4749;IndelType=D;MQ=55.43;MQ0=0;QD=29.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315699 GT:AD:DP:GQ:PL 1/1:1,5:8:21.05:281,21,0
2 228149107 rs6436672 A G 533.90 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.41;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315699 GT:AD:DP:GQ:PL 1/1:0,17:17:42.14:567,42,0
2 228158418 rs7569636 T C 1720.51 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.11;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000487633 GT:AD:DP:GQ:PL 1/1:0,49:49:99:1754,129,0
2 228158648 rs7608999 G C 476.56 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.66;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000487633 GT:AD:DP:GQ:PL 1/1:0,13:13:39.12:510,39,0
2 228159063 rs6436675 T C 506.44 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.96;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304990 GT:AD:DP:GQ:PL 1/1:0,13:13:39.13:539,39,0
2 228159641 rs4675163 C T 3845.08 PASS AC=2;AF=1.00;AN=2;DB;DP=110;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.6281;MQ=57.41;MQ0=0;QD=34.96;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304990 GT:AD:DP:GQ:PL 1/1:0,110:110:99:3845,286,0
2 228159660 rs35803812 GTT G 2187.58 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.106;DB;DP=130;FS=1.797;HRun=16;HaplotypeScore=981.7787;IndelType=D;MQ=58.1;MQ0=0;MQRankSum=-0.908;QD=16.7;ReadPosRankSum=0.922;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304990 GT:AD:DP:GQ:PL 1/1:18,101:130:99:2230,234,0
2 228176357 rs4455148 T G 87.62 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.21;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL4A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315699 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:120,9,0
2 228194570 rs6706656 G A 1249.82 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=39.06;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MFF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304593 GT:AD:DP:GQ:PL 1/1:0,32:32:96.30:1283,96,0
2 228194639 rs36118365 T TA 110.54 PASS AC=2;AF=1.00;AN=2;DB;DP=5;FS=0.0;HRun=11;HaplotypeScore=11.2335;IndelType=I;MQ=62.13;MQ0=0;QD=22.11;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MFF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304593 GT:AD:DP:GQ:PL 1/1:0,5:5:15.03:152,15,0
2 228197368 rs4500938 A G 3610.26 PASS AC=2;AF=1.00;AN=2;DB;DP=94;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.41;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MFF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418961 GT:AD:DP:GQ:PL 1/1:0,94:94:99:3610,274,0
2 228197488 rs4444514 A G 376.70 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.11;MQ0=0;QD=37.67;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MFF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418961 GT:AD:DP:GQ:PL 1/1:0,10:10:30.10:410,30,0
2 228204929 rs4420693 C T 625.15 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.77;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MFF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304593 GT:AD:DP:GQ:PL 1/1:0,17:17:48.16:658,48,0
2 228204982 rs4442987 C T 1140.51 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.82;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MFF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304593 GT:AD:DP:GQ:PL 1/1:0,37:37:90.29:1174,90,0
2 228211074 rs5003955 T C 1923.46 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.16;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MFF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304593 GT:AD:DP:GQ:PL 1/1:0,58:58:99:1956,165,0
2 228220288 rs56310237 A G 943.90 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.33;MQ0=0;QD=33.71;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MFF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304593 GT:AD:DP:GQ:PL 1/1:0,28:28:72.24:977,72,0
2 228221725 rs74713223 A G 3452.62 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.087;DB;DP=101;Dels=0.0;FS=4.305;HRun=0;HaplotypeScore=5.8882;MQ=59.77;MQ0=0;MQRankSum=-0.787;QD=34.18;ReadPosRankSum=-1.697;SNPEFF_AMINO_ACID_CHANGE=L119;SNPEFF_CODON_CHANGE=ctA/ctG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_228221702_228222097;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MFF;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000456345 GT:AD:DP:GQ:PL 1/1:1,99:101:99:3453,217,0
2 228230727 rs75274263 G A 605.48 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.39;MQ0=0;QD=33.64;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TM4SF20;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304568 GT:AD:DP:GQ:PL 1/1:0,18:18:48.15:638,48,0
2 228230945 rs76547437 G A 1104.07 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.9997;MQ=59.25;MQ0=0;QD=35.62;SNPEFF_AMINO_ACID_CHANGE=L89F;SNPEFF_CODON_CHANGE=Ctt/Ttt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_228230809_228230960;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TM4SF20;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000304568 GT:AD:DP:GQ:PL 1/1:0,31:31:90.27:1137,90,0
2 228356364 rs146603517 GT G 1127.71 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-2.346;DB;DP=98;FS=0.0;HRun=15;HaplotypeScore=401.0405;IndelType=D;MQ=57.85;MQ0=0;MQRankSum=0.601;QD=11.51;ReadPosRankSum=-0.625;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGFG1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310078 GT:AD:DP:GQ:PL 1/1:34,56:98:99:1170,142,0
2 228373404 rs34676783 A AT 756.10 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.193;DB;DP=53;FS=4.976;HRun=13;HaplotypeScore=209.6968;IndelType=I;MQ=59.8;MQ0=0;MQRankSum=-0.17;QD=14.27;ReadPosRankSum=-1.61;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGFG1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310078 GT:AD:DP:GQ:PL 1/1:18,35:53:9.80:797,10,0
2 228395648 rs12053112 C A 91.07 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGFG1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310078 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:123,9,0
2 228399480 rs7588620 T C 513.86 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.78;MQ0=0;QD=27.05;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGFG1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456594 GT:AD:DP:GQ:PL 1/1:0,19:19:42.13:547,42,0
2 228416498 rs7598597 C T 218.99 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.28;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGFG1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310078 GT:AD:DP:GQ:PL 1/1:0,7:7:18.06:252,18,0
2 228416712 rs13426457 A G 2884.52 PASS AC=2;AF=1.00;AN=2;DB;DP=96;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=2.5114;MQ=59.52;MQ0=0;QD=30.05;SNPEFF_AMINO_ACID_CHANGE=T432;SNPEFF_CODON_CHANGE=acA/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_228416675_228416833;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGFG1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000373671 GT:AD:DP:GQ:PL 1/1:0,96:96:99:2918,229,0
2 228418957 rs13382948 A G 84.39 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.13;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGFG1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310078 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:116,9,0
2 228476253 rs2138402 C G 1799.40 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.29;SNPEFF_AMINO_ACID_CHANGE=E104Q;SNPEFF_CODON_CHANGE=Gag/Cag;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_228474806_228476372;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf83;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000264387 GT:AD:DP:GQ:PL 1/1:0,47:47:99:1832,135,0
2 228477814 rs7586824 G C 191.02 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.84;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf83;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264387 GT:AD:DP:GQ:PL 1/1:0,6:6:18.05:224,18,0
2 228560800 rs11334205 GA G 1805.88 PASS AC=2;AF=1.00;AN=2;DB;DP=72;FS=0.0;HRun=8;HaplotypeScore=233.7828;IndelType=D;MQ=56.74;MQ0=0;QD=25.08;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=SLC19A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409456 GT:AD:DP:GQ:PL 1/1:8,64:72:99:1848,192,0
2 228560834 rs79287293 C CT 557.63 PASS AB=0.719;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.262;DB;DP=41;FS=6.145;HRun=3;HaplotypeScore=207.5224;IndelType=I;MQ=52.2;MQ0=0;MQRankSum=-4.064;QD=13.6;ReadPosRankSum=0.184;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=SLC19A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409456 GT:AD:DP:GQ:PL 0/1:25,16:41:99:597,0,672
2 228563239 rs7602410 C T 52.22 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.11;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=SLC19A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409456 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:83,6,0
2 228734836 rs12464933 T A 1442.56 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.92;MQ0=0;QD=32.06;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR69;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309931 GT:AD:DP:GQ:PL 1/1:0,45:45:99:1476,111,0
2 228734956 rs12476836 G A 1941.23 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.35;MQ0=0;QD=37.33;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR69;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309931 GT:AD:DP:GQ:PL 1/1:0,52:52:99:1974,153,0
2 228735030 rs34877825 G C 1825.73 SnpCluster AC=2;AF=1.00;AN=2;BaseQRankSum=1.559;DB;DP=62;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.5592;MQ=51.2;MQ0=0;MQRankSum=-1.155;QD=29.45;ReadPosRankSum=-0.808;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR69;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309931 GT:AD:DP:GQ:PL 1/1:1,61:62:99:1859,125,0
2 228735034 rs78489887 A G 1471.70 SnpCluster AC=2;AF=1.00;AN=2;BaseQRankSum=-0.969;DB;DP=60;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.5592;MQ=51.33;MQ0=0;MQRankSum=-0.029;QD=24.53;ReadPosRankSum=-1.145;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR69;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309931 GT:AD:DP:GQ:PL 1/1:1,59:60:99:1505,114,0
2 228735035 rs74953232 C T 1535.97 SnpCluster AC=2;AF=1.00;AN=2;BaseQRankSum=-1.675;DB;DP=62;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.5592;MQ=51.63;MQ0=0;MQRankSum=-1.562;QD=24.77;ReadPosRankSum=-1.221;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR69;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309931 GT:AD:DP:GQ:PL 1/1:1,61:62:99:1569,117,0
2 228735140 rs34862621 T C 3052.87 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.524;DB;DP=86;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.734;MQ=56.76;MQ0=0;MQRankSum=-1.128;QD=35.5;ReadPosRankSum=0.0;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR69;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309931 GT:AD:DP:GQ:PL 1/1:1,85:86:99:3086,203,0
2 228735186 rs61343551 T C 3278.72 PASS AC=2;AF=1.00;AN=2;DB;DP=89;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.54;MQ0=0;QD=36.84;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR69;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309931 GT:AD:DP:GQ:PL 1/1:0,89:89:99:3279,250,0
2 228735267 rs6737993 T C 3127.74 PASS AC=2;AF=1.00;AN=2;DB;DP=103;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.33;MQ0=0;QD=30.37;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR69;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309931 GT:AD:DP:GQ:PL 1/1:0,103:103:99:3161,235,0
2 228735299 rs66687055 A G 2364.69 PASS AC=2;AF=1.00;AN=2;DB;DP=83;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=58.6;MQ0=0;QD=28.49;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR69;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309931 GT:AD:DP:GQ:PL 1/1:0,83:83:99:2398,190,0
2 228735448 rs12477002 G A 2021.87 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.577;DB;DP=66;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.312;QD=30.63;ReadPosRankSum=-0.892;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR69;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309931 GT:AD:DP:GQ:PL 1/1:1,65:66:99:2055,120,0
2 228735732 rs10498223 C T 49.30 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.65;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR69;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309931 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
2 228736313 rs12478068 G T 233.08 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.3;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_2_228735770_228736445;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR69;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000373666 GT:AD:DP:GQ:PL 1/1:0,7:7:21.05:266,21,0
2 228736527 rs12470042 A G 261.60 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.85;MQ0=0;QD=29.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR69;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309931 GT:AD:DP:GQ:PL 1/1:0,9:9:24.03:295,24,0
2 228736608 rs10933219 C T 36.68 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.34;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR69;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309931 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:68,6,0
2 228750239 rs4973445 G T 372.83 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR69;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309931 GT:AD:DP:GQ:PL 1/1:0,12:12:33.09:406,33,0
2 228758456 rs35758334 C A 758.03 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.1;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR69;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000440997 GT:AD:DP:GQ:PL 1/1:0,21:21:60.19:791,60,0
2 228767618 rs2949014 T C 118.88 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR69;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309931 GT:AD:DP:GQ:PL 1/1:0,4:4:12.03:151,12,0
2 228772168 rs13393365 T C 99.22 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9933;MQ=60.0;MQ0=0;MQRankSum=0.421;QD=12.4;ReadPosRankSum=-2.017;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR69;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000454999 GT:AD:DP:GQ:PL 0/1:4,4:8:99:129,0,142
2 228776938 rs3748863 A G 204.15 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.637;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.6;QD=17.01;ReadPosRankSum=-1.134;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR69;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309931 GT:AD:DP:GQ:PL 0/1:4,8:12:99:234,0,130
2 228776996 rs3748862 T C 361.33 PASS AB=0.484;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.286;DB;DP=31;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=-0.041;QD=11.66;ReadPosRankSum=-0.871;SNPEFF_AMINO_ACID_CHANGE=W334R;SNPEFF_CODON_CHANGE=Tgg/Cgg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_228776970_228777185;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR69;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000373666 GT:AD:DP:GQ:PL 0/1:15,16:31:99:391,0,534
2 228783364 rs4973494 A C 167.88 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR69;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309931 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:201,15,0
2 228783479 rs1533960 C A 171.81 PASS AB=0.68;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.592;DB;DP=25;Dels=0.0;FS=4.409;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.495;QD=6.87;ReadPosRankSum=-1.311;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR69;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309931 GT:AD:DP:GQ:PL 0/1:17,8:25:99:202,0,503
2 228855866 rs16824283 G C 1445.30 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.45;MQ0=0;QD=32.12;SNPEFF_AMINO_ACID_CHANGE=S1574R;SNPEFF_CODON_CHANGE=agC/agG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_228855716_228855900;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPHKAP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000344657 GT:AD:DP:GQ:PL 1/1:0,45:45:99:1478,123,0
2 228973383 rs67714256 A C 209.83 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.97;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPHKAP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344657 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:243,18,0
2 228973660 rs7561798 A G 1630.88 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.58;MQ0=0;QD=33.28;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPHKAP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344657 GT:AD:DP:GQ:PL 1/1:0,49:49:99:1664,129,0
2 228973723 rs35008305 C CT 254.54 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.738;DB;DP=19;FS=0.0;HRun=12;HaplotypeScore=114.1679;IndelType=I;MQ=57.17;MQ0=0;MQRankSum=0.29;QD=13.4;ReadPosRankSum=0.29;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPHKAP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344657 GT:AD:DP:GQ:PL 1/1:7,12:19:14.24:296,14,0
2 228996470 rs4353645 A G 50.30 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.15;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPHKAP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344657 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
2 228996637 rs4479423 G A 879.96 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.2;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPHKAP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344657 GT:AD:DP:GQ:PL 1/1:0,25:25:69.21:913,69,0
2 228996650 rs4353646 A G 1240.09 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.28;MQ0=0;QD=38.75;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPHKAP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344657 GT:AD:DP:GQ:PL 1/1:0,32:32:93.31:1273,93,0
2 228996672 rs4585022 G A 1465.61 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.02;FS=0.0;HRun=3;HaplotypeScore=3.6282;MQ=59.01;MQ0=0;QD=31.18;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPHKAP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344657 GT:AD:DP:GQ:PL 1/1:0,46:46:99:1499,120,0
2 228996995 rs5013548 C T 128.47 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.95;MQ0=0;QD=32.12;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPHKAP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344657 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:161,12,0
2 228997009 rs66910205 C T 92.60 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPHKAP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344657 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:125,9,0
2 229035357 rs79953909 T A 680.85 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=59.07;MQ0=0;QD=27.23;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPHKAP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344657 GT:AD:DP:GQ:PL 1/1:0,25:25:63.17:714,63,0
2 229035442 rs4334483 A T 197.73 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.95;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPHKAP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344657 GT:AD:DP:GQ:PL 1/1:0,6:6:18.05:231,18,0
2 229035509 rs4364010 C T 77.18 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.73;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPHKAP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344657 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:109,9,0
2 230020507 rs17614185 A G 323.27 PASS AB=0.658;AC=1;AF=0.50;AN=2;BaseQRankSum=1.11;DB;DP=38;Dels=0.0;FS=2.007;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.29;QD=8.51;ReadPosRankSum=-0.119;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PID1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354069 GT:AD:DP:GQ:PL 0/1:25,13:38:99:353,0,731
2 230271780 rs7562609 A G 461.77 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.16;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNER;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341772 GT:AD:DP:GQ:PL 1/1:0,17:17:42.12:495,42,0
2 230282624 rs6760224 G A 269.03 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.89;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNER;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341772 GT:AD:DP:GQ:PL 1/1:0,9:9:24.06:302,24,0
2 230411633 rs72985919 G A 1175.33 PASS AB=0.512;AC=1;AF=0.50;AN=2;BaseQRankSum=0.816;DB;DP=86;Dels=0.0;FS=6.195;HRun=0;HaplotypeScore=1.5362;MQ=59.57;MQ0=0;MQRankSum=-1.413;QD=13.67;ReadPosRankSum=-0.246;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNER;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341772 GT:AD:DP:GQ:PL 0/1:44,42:86:99:1205,0,1282
2 230453214 rs77640045 G GA 415.96 PASS AB=0.59;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.292;DB;DP=23;FS=0.0;HRun=10;HaplotypeScore=72.6459;IndelType=I;MQ=57.97;MQ0=0;MQRankSum=0.839;QD=18.09;ReadPosRankSum=0.056;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNER;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341772 GT:AD:DP:GQ:PL 0/1:7,16:23:16.35:455,0,16
2 230652430 . T TA 96.97 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.92;DP=10;FS=0.0;HRun=10;HaplotypeScore=50.1741;IndelType=I;MQ=57.66;MQ0=0;MQRankSum=-0.684;QD=9.7;ReadPosRankSum=-1.92;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRIP12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470302 GT:AD:DP:GQ:PL 0/1:5,5:10:49.88:136,0,50
2 230655733 rs722268 C T 354.63 PASS AB=0.613;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.075;DB;DP=31;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.25;MQ0=0;MQRankSum=1.805;QD=11.44;ReadPosRankSum=1.764;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRIP12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461189 GT:AD:DP:GQ:PL 0/1:19,12:31:99:385,0,669
2 230666898 rs10432554 A G 180.73 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.073;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.191;QD=15.06;ReadPosRankSum=1.073;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRIP12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000487178 GT:AD:DP:GQ:PL 0/1:6,6:12:99:211,0,175
2 230668968 rs4972915 G A 543.43 PASS AB=0.452;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.047;DB;DP=42;Dels=0.0;FS=3.789;HRun=0;HaplotypeScore=1.7262;MQ=60.0;MQ0=0;MQRankSum=2.542;QD=12.94;ReadPosRankSum=-0.829;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRIP12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479037 GT:AD:DP:GQ:PL 0/1:19,23:42:99:573,0,639
2 230723777 rs544480 G C 421.25 PASS AB=0.548;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.853;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.012;QD=13.59;ReadPosRankSum=1.369;SNPEFF_AMINO_ACID_CHANGE=S204;SNPEFF_CODON_CHANGE=tcC/tcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_230723488_230724290;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRIP12;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000283943 GT:AD:DP:GQ:PL 0/1:17,14:31:99:451,0,579
2 230744570 rs479492 C T 235.04 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.66;MQ0=0;QD=23.5;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRIP12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283943 GT:AD:DP:GQ:PL 1/1:0,10:10:21.07:268,21,0
2 230841074 rs499449 C T 621.93 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=3.162;DB;DP=36;Dels=0.0;FS=5.059;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.381;QD=17.28;ReadPosRankSum=1.672;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FBXO36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283946 GT:AD:DP:GQ:PL 0/1:16,20:36:99:652,0,402
2 230875311 rs11675143 G A 148.68 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.495;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.198;QD=21.24;ReadPosRankSum=0.922;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FBXO36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283946 GT:AD:DP:GQ:PL 0/1:2,5:7:60.81:179,0,61
2 230914604 . C A 148.63 PASS AB=0.449;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.17;DP=69;Dels=0.0;FS=54.623;HRun=2;HaplotypeScore=5.0053;MQ=45.17;MQ0=0;MQRankSum=-3.695;QD=2.15;ReadPosRankSum=2.761;SNPEFF_AMINO_ACID_CHANGE=L92F;SNPEFF_CODON_CHANGE=ttG/ttT;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_230914477_230914620;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC16A14;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000295190 GT:AD:DP:GQ:PL 0/1:31,38:69:99:179,0,835
2 231033633 rs5839361 A ATTAATT 1079.05 PASS AC=2;AF=1.00;AN=2;DB;DP=14;FS=0.0;HRun=0;HaplotypeScore=124.9591;IndelType=I;MQ=41.41;MQ0=0;QD=77.07;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SP110;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358662 GT:AD:DP:GQ:PL 1/1:0,9:14:41.50:1121,42,0
2 231050569 rs2114591 G A 667.43 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=39.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SP110;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258381 GT:AD:DP:GQ:PL 1/1:0,17:17:51.17:700,51,0
2 231050715 rs3948464 A G 2514.96 PASS AC=2;AF=1.00;AN=2;DB;DP=72;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;QD=34.93;SNPEFF_AMINO_ACID_CHANGE=L127S;SNPEFF_CODON_CHANGE=tTg/tCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_231050710_231050859;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SP110;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000338556 GT:AD:DP:GQ:PL 1/1:0,72:72:99:2548,202,0
2 231072709 rs1365776 C T 661.91 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.77;SNPEFF_AMINO_ACID_CHANGE=G299R;SNPEFF_CODON_CHANGE=Gga/Aga;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_231072706_231072774;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SP110;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000258381 GT:AD:DP:GQ:PL 1/1:0,18:18:54.17:695,54,0
2 231076032 rs3769837 G T 126.74 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.69;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SP110;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409815 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:159,12,0
2 231076289 rs3820974 T G 1020.02 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.17;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SP110;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409815 GT:AD:DP:GQ:PL 1/1:0,29:29:84.27:1053,84,0
2 231077112 rs28930679 G A 463.79 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.13;SNPEFF_AMINO_ACID_CHANGE=A160V;SNPEFF_CODON_CHANGE=gCg/gTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_231077111_231077145;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SP110;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000455674 GT:AD:DP:GQ:PL 1/1:0,14:14:36.12:497,36,0
2 231077154 rs41309096 G A 249.01 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.13;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SP110;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000416610 GT:AD:DP:GQ:PL 1/1:0,8:8:21.07:282,21,0
2 231077360 rs6749386 A G 3860.55 PASS AC=2;AF=1.00;AN=2;DB;DP=112;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.47;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SP110;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000416610 GT:AD:DP:GQ:PL 1/1:0,112:112:99:3861,292,0
2 231077725 rs1129411 A G 1498.66 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.45;MQ0=0;QD=35.68;SNPEFF_AMINO_ACID_CHANGE=W112R;SNPEFF_CODON_CHANGE=Tgg/Cgg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_231077476_231077742;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SP110;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000258381 GT:AD:DP:GQ:PL 1/1:0,42:42:99:1532,114,0
2 231077911 rs7601190 A C 128.12 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.03;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SP110;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000416610 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:161,12,0
2 231081384 rs7580900 T C 321.73 PASS AB=0.267;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.588;DB;DP=15;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.45;MQ0=0;MQRankSum=0.849;QD=21.45;ReadPosRankSum=0.196;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SP110;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258381 GT:AD:DP:GQ:PL 0/1:4,11:15:99:352,0,116
2 231081405 rs7580912 T C 476.78 PASS AB=0.36;AC=1;AF=0.50;AN=2;BaseQRankSum=0.481;DB;DP=25;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.07;MQ0=0;MQRankSum=0.708;QD=19.07;ReadPosRankSum=0.368;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=SP110;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258381 GT:AD:DP:GQ:PL 0/1:9,16:25:99:507,0,299
2 231103185 rs2278197 A G 258.99 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.237;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.45;MQ0=0;MQRankSum=-1.002;QD=17.27;ReadPosRankSum=-1.827;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SP140;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473711 GT:AD:DP:GQ:PL 0/1:6,9:15:99:289,0,185
2 231106244 rs2288328 G C 267.43 PASS AB=0.412;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.83;DB;DP=17;Dels=0.0;FS=2.702;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.244;QD=15.73;ReadPosRankSum=0.049;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SP140;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373645 GT:AD:DP:GQ:PL 0/1:7,10:17:99:297,0,211
2 231118186 rs3769840 G A 312.49 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.988;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9958;MQ=58.95;MQ0=0;MQRankSum=0.456;QD=14.2;ReadPosRankSum=-1.368;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SP140;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343805 GT:AD:DP:GQ:PL 0/1:11,11:22:99:342,0,312
2 231120255 rs78438658 CG C 154.16 PASS AB=0.776;AC=1;AF=0.50;AN=2;BaseQRankSum=1.463;DB;DP=38;FS=3.713;HRun=10;HaplotypeScore=151.7031;IndelType=D;MQ=59.64;MQ0=0;MQRankSum=-0.818;QD=4.06;ReadPosRankSum=0.043;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SP140;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343805 GT:AD:DP:GQ:PL 0/1:27,11:38:99:193,0,536
2 231135662 rs56716621 A G 374.55 PASS AB=0.435;AC=1;AF=0.50;AN=2;BaseQRankSum=0.403;DB;DP=23;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9734;MQ=60.0;MQ0=0;MQRankSum=0.155;QD=16.28;ReadPosRankSum=-0.155;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SP140;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392044 GT:AD:DP:GQ:PL 0/1:10,13:23:99:405,0,350
2 231149108 rs4972946 G A 1536.83 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=1.9852;MQ=59.11;MQ0=0;QD=29.55;SNPEFF_AMINO_ACID_CHANGE=E385K;SNPEFF_CODON_CHANGE=Gaa/Aaa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_231149061_231149126;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SP140;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000350136 GT:AD:DP:GQ:PL 1/1:0,52:52:99:1570,123,0
2 231157271 rs7602027 T C 797.25 PASS AB=0.46;AC=1;AF=0.50;AN=2;BaseQRankSum=1.557;DB;DP=50;Dels=0.0;FS=1.334;HRun=0;HaplotypeScore=1.7262;MQ=60.0;MQ0=0;MQRankSum=0.506;QD=15.95;ReadPosRankSum=1.479;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SP140;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000476126 GT:AD:DP:GQ:PL 0/1:23,27:50:99:827,0,697
2 231157527 rs6739193 G A 362.32 PASS AB=0.548;AC=1;AF=0.50;AN=2;BaseQRankSum=0.145;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.841;MQ=51.2;MQ0=0;MQRankSum=1.476;QD=11.69;ReadPosRankSum=0.935;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SP140;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000476126 GT:AD:DP:GQ:PL 0/1:17,14:31:99:392,0,498
2 231236505 rs12474823 C T 1797.45 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.5226;MQ=60.0;MQ0=0;QD=32.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SP140L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000243810 GT:AD:DP:GQ:PL 1/1:0,56:56:99:1830,132,0
2 231248261 rs28497362 C T 1643.21 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9958;MQ=60.0;MQ0=0;QD=34.96;SNPEFF_AMINO_ACID_CHANGE=T225M;SNPEFF_CODON_CHANGE=aCg/aTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_231248225_231248290;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SP140L;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000243810 GT:AD:DP:GQ:PL 1/1:0,46:47:99:1676,123,0
2 231258150 rs7590429 C T 2043.49 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.633;DB;DP=72;Dels=0.0;FS=3.14;HRun=1;HaplotypeScore=2.2312;MQ=60.0;MQ0=0;MQRankSum=-0.99;QD=28.38;ReadPosRankSum=-0.94;SNPEFF_AMINO_ACID_CHANGE=P342S;SNPEFF_CODON_CHANGE=Cca/Tca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_231258129_231258176;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SP140L;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000396563 GT:AD:DP:GQ:PL 1/1:1,71:72:99:2076,117,0
2 231258425 rs76585731 T C 47.20 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.6;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SP140L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462156 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:78,6,0
2 231265430 rs3731728 T G 35 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.5;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SP140L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000444636 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:66,6,0
2 231265443 rs3731729 C T 51.75 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.87;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SP140L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000444636 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:83,6,0
2 231266272 rs115108138 A G 68.27 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=23.68;MQ0=2;QD=11.38;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SP140L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000444636 GT:AD:DP:GQ:PL 1/1:0,6:6:9.02:100,9,0
2 231327291 rs1649863 A G 344.90 PASS AB=0.353;AC=1;AF=0.50;AN=2;BaseQRankSum=0.955;DB;DP=17;Dels=0.0;FS=5.653;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.955;QD=20.29;ReadPosRankSum=1.256;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SP100;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470940 GT:AD:DP:GQ:PL 0/1:6,11:17:99:375,0,164
2 231328696 rs2306274 C T 184.28 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.583;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.583;QD=15.36;ReadPosRankSum=0.583;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SP100;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466710 GT:AD:DP:GQ:PL 0/1:6,6:12:99:214,0,215
2 231328720 rs2306275 C T 286.79 PASS AB=0.231;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.099;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.2;MQ0=0;MQRankSum=-0.423;QD=22.06;ReadPosRankSum=0.592;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SP100;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466710 GT:AD:DP:GQ:PL 0/1:3,10:13:89.82:317,0,90
2 231328728 rs2306276 C T 374.49 PASS AB=0.214;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.401;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.33;MQ0=0;MQRankSum=-0.623;QD=26.75;ReadPosRankSum=-0.156;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SP100;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466710 GT:AD:DP:GQ:PL 0/1:3,11:14:83.97:404,0,84
2 231330826 rs113262860 G A 43.44 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=14.48;ReadPosRankSum=-0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SP100;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466710 GT:AD:DP:GQ:PL 0/1:1,2:3:31.62:73,0,32
2 231331701 rs11393695 A AG 778.42 PASS AC=2;AF=1.00;AN=2;DB;DP=19;FS=0.0;HRun=2;HaplotypeScore=137.4715;IndelType=I;MQ=54.95;MQ0=0;QD=40.97;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SP100;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466710 GT:AD:DP:GQ:PL 1/1:0,19:19:57.19:820,57,0
2 231331706 rs2303609 C T 271.60 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.398;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.21;MQ0=0;MQRankSum=-1.096;QD=13.58;ReadPosRankSum=0.113;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SP100;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466710 GT:AD:DP:GQ:PL 0/1:10,10:20:99:302,0,338
2 231331799 rs1649869 T C 3106.40 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.39;DB;DP=91;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9662;MQ=59.03;MQ0=0;MQRankSum=0.933;QD=34.14;ReadPosRankSum=1.313;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SP100;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466710 GT:AD:DP:GQ:PL 1/1:1,90:91:99:3139,195,0
2 231331896 rs1050224 G A 2859.33 PASS AC=2;AF=1.00;AN=2;DB;DP=83;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.6;MQ0=0;QD=34.45;SNPEFF_AMINO_ACID_CHANGE=S384;SNPEFF_CODON_CHANGE=tcG/tcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_231331835_231331930;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SP100;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000409897 GT:AD:DP:GQ:PL 1/1:0,83:83:99:2892,217,0
2 231333763 rs12724 A G 1139.50 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=1.572;DB;DP=91;Dels=0.0;FS=0.844;HRun=0;HaplotypeScore=0.0;MQ=59.75;MQ0=0;MQRankSum=0.362;QD=12.39;ReadPosRankSum=0.665;SNPEFF_AMINO_ACID_CHANGE=M398V;SNPEFF_CODON_CHANGE=Atg/Gtg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_231333758_231333811;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SP100;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000409897 GT:AD:DP:GQ:PL 0/1:49,42:91:99:1169,0,1424
2 231333834 rs1649873 G A 1117.71 PASS AB=0.506;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.304;DB;DP=83;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.6651;MQ=59.44;MQ0=0;MQRankSum=-0.205;QD=13.47;ReadPosRankSum=0.515;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SP100;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462751 GT:AD:DP:GQ:PL 0/1:42,41:83:99:1148,0,1251
2 231333852 rs1649874 A C 1015.23 PASS AB=0.514;AC=1;AF=0.50;AN=2;BaseQRankSum=1.77;DB;DP=70;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.34;MQ0=0;MQRankSum=1.554;QD=14.5;ReadPosRankSum=0.618;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SP100;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462751 GT:AD:DP:GQ:PL 0/1:36,34:70:99:1045,0,1068
2 231333890 rs1649875 C T 565.11 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.441;DB;DP=38;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=0.41;QD=14.87;ReadPosRankSum=-0.775;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SP100;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462751 GT:AD:DP:GQ:PL 0/1:19,19:38:99:595,0,636
2 231334010 rs1649877 C T 66.42 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.572;DB;DP=8;Dels=0.0;FS=3.68;HRun=0;HaplotypeScore=0.0;MQ=57.05;MQ0=0;MQRankSum=1.067;QD=8.3;ReadPosRankSum=0.572;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SP100;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462751 GT:AD:DP:GQ:PL 0/1:2,6:8:63.73:96,0,64
2 231334011 rs1649878 A G 66.42 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.067;DB;DP=8;Dels=0.0;FS=3.68;HRun=0;HaplotypeScore=0.0;MQ=57.05;MQ0=0;MQRankSum=-0.572;QD=8.3;ReadPosRankSum=0.572;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SP100;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462751 GT:AD:DP:GQ:PL 0/1:2,6:8:63.84:96,0,64
2 231334216 rs1051579 T C 363.86 PASS AB=0.423;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.699;DB;DP=26;Dels=0.0;FS=6.085;HRun=0;HaplotypeScore=0.9973;MQ=59.11;MQ0=0;MQRankSum=1.609;QD=13.99;ReadPosRankSum=-1.972;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SP100;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462751 GT:AD:DP:GQ:PL 0/1:11,15:26:99:394,0,349
2 231334299 rs1051580 G A 186.17 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.422;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.248;QD=20.69;ReadPosRankSum=-1.683;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SP100;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462751 GT:AD:DP:GQ:PL 0/1:3,6:9:99:216,0,100
2 231334504 rs139756804 AAAAG A 308.54 PASS AB=0.619;AC=1;AF=0.50;AN=2;BaseQRankSum=2.637;DB;DP=13;FS=0.0;HRun=0;HaplotypeScore=65.705;IndelType=D;MQ=56.18;MQ0=0;MQRankSum=0.825;QD=23.73;ReadPosRankSum=1.239;SNPEFF_EFFECT=FRAME_SHIFT;SNPEFF_EXON_ID=exon_2_231334494_231334568;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SP100;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000341950 GT:AD:DP:GQ:PL 0/1:5,8:13:99:348,0,239
2 231334679 rs1678162 A G 230.42 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.825;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.239;QD=19.2;ReadPosRankSum=0.536;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SP100;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341950 GT:AD:DP:GQ:PL 0/1:4,8:12:99:260,0,132
2 231337960 rs1615190 C T 701.58 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.95;MQ0=0;QD=31.89;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SP100;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341950 GT:AD:DP:GQ:PL 1/1:0,22:22:60.16:735,60,0
2 231338211 rs1678169 T G 846.31 PASS AB=0.422;AC=1;AF=0.50;AN=2;BaseQRankSum=1.482;DB;DP=45;Dels=0.0;FS=2.027;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.609;QD=18.81;ReadPosRankSum=0.402;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SP100;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341950 GT:AD:DP:GQ:PL 0/1:19,26:45:99:876,0,635
2 231358974 rs143929368 G A 74.18 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=14.84;ReadPosRankSum=0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SP100;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264052 GT:AD:DP:GQ:PL 0/1:2,3:5:58.06:104,0,58
2 231359225 rs6759377 T C 143.83 PASS AB=0.739;AC=1;AF=0.50;AN=2;BaseQRankSum=0.735;DB;DP=23;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.315;QD=6.25;ReadPosRankSum=1.295;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SP100;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000452345 GT:AD:DP:GQ:PL 0/1:17,6:23:99:174,0,556
2 231363252 rs34979917 TA T 510.88 PASS AC=2;AF=1.00;AN=2;DB;DP=32;FS=0.0;HRun=13;HaplotypeScore=96.2547;IndelType=D;MQ=58.73;MQ0=0;QD=15.97;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SP100;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000452345 GT:AD:DP:GQ:PL 1/1:5,26:32:76.56:553,77,0
2 231368897 rs6705605 G T 745.92 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.208;DB;DP=54;Dels=0.0;FS=9.988;HRun=2;HaplotypeScore=1.7256;MQ=59.57;MQ0=0;MQRankSum=-0.138;QD=13.81;ReadPosRankSum=-0.623;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SP100;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264052 GT:AD:DP:GQ:PL 0/1:27,27:54:99:776,0,923
2 231375974 rs16827319 G A 164.22 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.694;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.529;QD=10.26;ReadPosRankSum=-1.482;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SP100;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409112 GT:AD:DP:GQ:PL 0/1:9,7:16:99:194,0,309
2 231406070 rs17275036 G A 552.63 PASS AB=0.511;AC=1;AF=0.50;AN=2;BaseQRankSum=1.147;DB;DP=45;Dels=0.0;FS=2.527;HRun=0;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=0.942;QD=12.28;ReadPosRankSum=-1.828;SNPEFF_AMINO_ACID_CHANGE=A266T;SNPEFF_CODON_CHANGE=Gcc/Acc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_231406016_231406087;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SP100;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000414648 GT:AD:DP:GQ:PL 0/1:23,22:45:99:583,0,706
2 231406529 rs6728423 T C 393.18 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.77;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SP100;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340126 GT:AD:DP:GQ:PL 1/1:0,12:12:33.10:426,33,0
2 231406680 rs836237 T C 1586.76 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.94;SNPEFF_AMINO_ACID_CHANGE=M296T;SNPEFF_CODON_CHANGE=aTg/aCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_231406607_231406750;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SP100;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000414648 GT:AD:DP:GQ:PL 1/1:0,53:53:99:1620,123,0
2 231407519 rs6717269 C T 1118.60 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.36;MQ0=0;QD=38.57;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SP100;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340126 GT:AD:DP:GQ:PL 1/1:0,29:29:84.28:1152,84,0
2 231738168 rs2289235 G A 602.76 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.73;MQ0=0;QD=27.4;SNPEFF_AMINO_ACID_CHANGE=G53S;SNPEFF_CODON_CHANGE=Ggc/Agc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_231738132_231738272;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITM2C;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000326407 GT:AD:DP:GQ:PL 1/1:0,22:22:51.16:636,51,0
2 231738263 rs2289234 C T 596.71 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.41;SNPEFF_AMINO_ACID_CHANGE=F22;SNPEFF_CODON_CHANGE=ttC/ttT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_231738132_231738272;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITM2C;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000409704 GT:AD:DP:GQ:PL 1/1:0,19:19:48.16:630,48,0
2 231738269 rs2289233 G A 610.63 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.92;SNPEFF_AMINO_ACID_CHANGE=A24;SNPEFF_CODON_CHANGE=gcG/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_231738132_231738272;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITM2C;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000409704 GT:AD:DP:GQ:PL 1/1:0,18:18:48.16:644,48,0
2 231738318 rs3816150 T C 376.72 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.11;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITM2C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326407 GT:AD:DP:GQ:PL 1/1:0,15:15:33.10:410,33,0
2 231740276 rs2289231 A G 1150.89 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9997;MQ=60.0;MQ0=0;QD=33.85;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITM2C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326407 GT:AD:DP:GQ:PL 1/1:0,34:34:93.26:1184,93,0
2 231742864 rs62195287 G A 119.23 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.884;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.45;MQ0=0;MQRankSum=0.295;QD=7.95;ReadPosRankSum=-2.77;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITM2C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418408 GT:AD:DP:GQ:PL 0/1:9,6:15:99:149,0,252
2 231860838 rs2271369 C T 107.58 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.92;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.322;QD=13.45;ReadPosRankSum=0.322;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_2_231860836_231861249;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPATA3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000424440 GT:AD:DP:GQ:PL 0/1:3,5:8:99:138,0,104
2 231860848 rs6722863 A G 334.01 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.83;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPATA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355662 GT:AD:DP:GQ:PL 1/1:0,12:12:30.09:367,30,0
2 231861032 rs72362780 TCAGCAGCCTAGCCCTGAATCCACACCA T 5508.07 PASS AB=0.691;AC=1;AF=0.50;AN=2;BaseQRankSum=10.566;DB;DP=159;FS=0.65;HRun=0;HaplotypeScore=3439.4537;IndelType=D;MQ=57.85;MQ0=0;MQRankSum=1.32;QD=34.64;ReadPosRankSum=0.809;SNPEFF_AMINO_ACID_CHANGE=QQPSPESTP29-;SNPEFF_CODON_CHANGE=cagcagcctagccctgaatccacacca/-;SNPEFF_EFFECT=CODON_DELETION;SNPEFF_EXON_ID=exon_2_231860949_231861065;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPATA3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000355662 GT:AD:DP:GQ:PL 0/1:88,71:159:99:5508,0,14163
2 231864529 rs6436986 A G 325.96 PASS AB=0.389;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.087;DB;DP=18;Dels=0.0;FS=3.039;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.449;QD=18.11;ReadPosRankSum=-0.815;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPATA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355662 GT:AD:DP:GQ:PL 0/1:7,11:18:99:356,0,245
2 231864600 rs7573039 T C 173 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.6;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPATA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355662 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:206,15,0
2 231865018 rs13406394 A G 42.52 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=14.17;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPATA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355662 GT:AD:DP:GQ:PL 0/1:1,2:3:31.62:73,0,32
2 231865047 rs3817173 T C 96.85 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=7;Dels=0.0;FS=3.68;HRun=0;HaplotypeScore=0.9983;MQ=57.28;MQ0=0;MQRankSum=0.937;QD=13.84;ReadPosRankSum=-0.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPATA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355662 GT:AD:DP:GQ:PL 0/1:3,4:7:87.42:127,0,87
2 231865090 rs2271376 T C 160.41 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.025;DB;DP=15;Dels=0.0;FS=5.497;HRun=0;HaplotypeScore=0.0;MQ=58.75;MQ0=0;MQRankSum=-0.637;QD=10.69;ReadPosRankSum=1.099;SNPEFF_AMINO_ACID_CHANGE=I104T;SNPEFF_CODON_CHANGE=aTt/aCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_231865081_231865252;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPATA3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000424440 GT:AD:DP:GQ:PL 0/1:8,7:15:99:190,0,255
2 231865269 rs2271375 G T 323.32 PASS AB=0.368;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.669;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.78;MQ0=0;MQRankSum=0.328;QD=17.02;ReadPosRankSum=-1.171;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPATA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355662 GT:AD:DP:GQ:PL 0/1:7,12:19:99:353,0,163
2 231867177 rs11687462 A G 74.99 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.727;QD=18.75;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPATA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355662 GT:AD:DP:GQ:PL 0/1:1,3:4:27.97:105,0,28
2 231867220 rs10933364 A G 125.37 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.92;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.92;QD=15.67;ReadPosRankSum=0.684;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPATA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355662 GT:AD:DP:GQ:PL 0/1:3,5:8:95.79:155,0,96
2 231867658 rs2271371 C T 143.87 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.45;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.453;QD=14.39;ReadPosRankSum=0.103;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPATA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000454918 GT:AD:DP:GQ:PL 0/1:5,5:10:99:174,0,150
2 231925825 rs115169600 T C 136.18 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.24;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSMD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000308696 GT:AD:DP:GQ:PL 1/1:0,5:5:15.01:169,15,0
2 231927569 rs3815844 G T 74.92 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=14.98;ReadPosRankSum=1.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSMD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000308696 GT:AD:DP:GQ:PL 0/1:2,3:5:68.41:105,0,68
2 231944373 rs2303353 A T 63.81 PASS AB=0.688;AC=1;AF=0.50;AN=2;BaseQRankSum=0.566;DB;DP=16;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.793;QD=3.99;ReadPosRankSum=-1.699;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSMD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000308696 GT:AD:DP:GQ:PL 0/1:11,5:16:93.81:94,0,412
2 231948178 rs906879 A G 253.46 PASS AB=0.273;AC=1;AF=0.50;AN=2;BaseQRankSum=0.382;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=23.04;ReadPosRankSum=1.106;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSMD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000308696 GT:AD:DP:GQ:PL 0/1:3,8:11:86.87:283,0,87
2 231949946 rs2303357 G A 67.62 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=1.683;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.248;QD=7.51;ReadPosRankSum=1.001;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSMD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000308696 GT:AD:DP:GQ:PL 0/1:6,3:9:97.61:98,0,197
2 231987955 rs7607338 C A 117.97 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.731;QD=23.59;ReadPosRankSum=-0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HTR2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258400 GT:AD:DP:GQ:PL 0/1:1,4:5:22.75:148,0,23
2 232025952 rs35533383 T TA 47.14 PASS AB=0.742;AC=1;AF=0.50;AN=2;BaseQRankSum=1.009;DB;DP=23;FS=0.0;HRun=14;HaplotypeScore=240.5502;IndelType=I;MQ=53.22;MQ0=0;MQRankSum=1.184;QD=2.05;ReadPosRankSum=-2.412;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSMD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000308696 GT:AD:DP:GQ:PL 0/1:13,7:23:86.17:86,0,159
2 232029735 rs36227127 GATTTATATAT G 418.78 PASS AC=2;AF=1.00;AN=2;DB;DP=12;FS=0.0;HRun=0;HaplotypeScore=170.1151;IndelType=D;MQ=45.65;MQ0=0;QD=34.9;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSMD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467792 GT:AD:DP:GQ:PL 1/1:0,12:12:36.12:461,36,0
2 232030301 rs6437003 C T 85.97 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.66;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSMD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000431051 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:118,9,0
2 232030510 rs2303351 C A 51.22 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.61;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSMD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000431051 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
2 232030555 rs2303350 G A 141.45 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.652;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.361;QD=15.72;ReadPosRankSum=-1.159;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSMD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000431051 GT:AD:DP:GQ:PL 0/1:4,5:9:99:171,0,140
2 232030861 rs2303349 A G 56.46 PASS AB=0.727;AC=1;AF=0.50;AN=2;BaseQRankSum=0.382;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.382;QD=5.13;ReadPosRankSum=0.566;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSMD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000431051 GT:AD:DP:GQ:PL 0/1:8,3:11:86.45:86,0,285
2 232035429 rs6749 G A 484.66 PASS AB=0.484;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.799;DB;DP=31;Dels=0.0;FS=3.798;HRun=0;HaplotypeScore=1.8332;MQ=60.0;MQ0=0;MQRankSum=-0.889;QD=15.63;ReadPosRankSum=-0.573;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSMD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409643 GT:AD:DP:GQ:PL 0/1:15,16:31:99:515,0,353
2 232072796 rs112353881 ATTTG A 254.50 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=2.383;DB;DP=10;FS=0.0;HRun=0;HaplotypeScore=46.5023;IndelType=D;MQ=55.21;MQ0=0;MQRankSum=-0.365;QD=25.45;ReadPosRankSum=1.133;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARMC9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000349938 GT:AD:DP:GQ:PL 0/1:4,6:10:99:294,0,282
2 232072912 rs11558174 T C 632.32 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.063;DB;DP=54;Dels=0.0;FS=1.124;HRun=0;HaplotypeScore=0.0;MQ=59.57;MQ0=0;MQRankSum=-0.745;QD=11.71;ReadPosRankSum=-0.386;SNPEFF_AMINO_ACID_CHANGE=L42;SNPEFF_CODON_CHANGE=Ttg/Ctg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_232072840_232072965;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARMC9;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000349938 GT:AD:DP:GQ:PL 0/1:30,24:54:99:662,0,879
2 232073106 rs12465438 G A 112.11 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.92;DB;DP=8;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.92;QD=14.01;ReadPosRankSum=0.322;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARMC9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000349938 GT:AD:DP:GQ:PL 0/1:3,5:8:99:142,0,107
2 232135541 rs7604042 A T 408.15 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARMC9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000349938 GT:AD:DP:GQ:PL 1/1:0,11:11:33.11:441,33,0
2 232225535 rs35889244 C CG 294.03 PASS AC=2;AF=1.00;AN=2;DB;DP=10;FS=0.0;HRun=3;HaplotypeScore=33.1254;IndelType=I;MQ=57.66;MQ0=0;QD=29.4;SNPEFF_EFFECT=FRAME_SHIFT;SNPEFF_EXON_ID=exon_2_232225466_232225536;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARMC9;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000359743 GT:AD:DP:GQ:PL 1/1:1,9:10:24.08:336,24,0
2 232317402 rs67356073 CA C 2217.41 PASS AC=2;AF=1.00;AN=2;DB;DP=61;FS=0.0;HRun=2;HaplotypeScore=180.3492;IndelType=D;MQ=60.68;MQ0=0;QD=36.35;SNPEFF_EFFECT=FRAME_SHIFT;SNPEFF_EXON_ID=exon_2_232317092_232317521;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC017104.2;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000370380 GT:AD:DP:GQ:PL 1/1:0,61:61:99:2259,175,0
2 232320856 rs59377947 G GA 878.51 PASS AC=2;AF=1.00;AN=2;DB;DP=31;FS=0.0;HRun=9;HaplotypeScore=63.743;IndelType=I;MQ=61.82;MQ0=0;QD=28.34;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC017104.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370380 GT:AD:DP:GQ:PL 1/1:3,28:31:84.22:921,84,0
2 232321956 rs7598759 C T 1628.95 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.57;MQ0=0;QD=37.88;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC017104.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370380 GT:AD:DP:GQ:PL 1/1:0,43:43:99:1662,123,0
2 232322779 rs6754426 G A 111.06 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.76;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC017104.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370380 GT:AD:DP:GQ:PL 1/1:0,4:4:12.01:144,12,0
2 232322829 rs6712148 T C 214.92 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.82;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC017104.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000370380 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:248,18,0
2 232324780 rs2442322 A G 604.08 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.63;MQ0=0;QD=35.53;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NCL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000417652 GT:AD:DP:GQ:PL 1/1:0,17:17:48.16:637,48,0
2 232325692 rs12996154 A C 539.03 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.71;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NCL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000417652 GT:AD:DP:GQ:PL 1/1:0,17:17:51.13:572,51,0
2 232326801 rs2595514 A T 2747.90 PASS AC=2;AF=1.00;AN=2;DB;DP=78;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.04;MQ0=0;QD=35.23;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NCL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484328 GT:AD:DP:GQ:PL 1/1:0,78:78:99:2781,208,0
2 232326873 rs147456242 TTC T 1574.83 PASS AC=2;AF=1.00;AN=2;DB;DP=36;FS=0.0;HRun=0;HaplotypeScore=161.6498;IndelType=D;MQ=60.9;MQ0=0;QD=43.75;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NCL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484328 GT:AD:DP:GQ:PL 1/1:0,36:36:99:1617,108,0
2 232327691 rs6437018 A C 93.19 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.06;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NCL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484328 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:125,9,0
2 232327707 rs6437019 T C 73.72 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.57;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NCL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000322723 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:106,9,0
2 232378231 rs6750795 T C 1407.76 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.39;MQ0=0;QD=37.05;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C2orf52;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313064 GT:AD:DP:GQ:PL 1/1:0,38:38:99:1441,105,0
2 232389587 rs5839407 CCCT C 243.66 PASS AC=2;AF=1.00;AN=2;DB;DP=6;FS=0.0;HRun=0;HaplotypeScore=32.5584;IndelType=D;MQ=51.77;MQ0=0;QD=40.61;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NMUR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000305141 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:286,18,0
2 232389744 rs3752762 A G 1313.46 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.5115;MQ=58.25;MQ0=0;QD=32.84;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NMUR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000305141 GT:AD:DP:GQ:PL 1/1:0,40:40:99:1346,99,0
2 232390151 rs3752763 A G 888.73 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.65;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NMUR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000305141 GT:AD:DP:GQ:PL 1/1:0,29:29:72.22:922,72,0
2 232390330 rs11693717 G T 83.70 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.9;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NMUR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000305141 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:116,9,0
2 232458443 rs10933378 T C 881.88 PASS AB=0.492;AC=1;AF=0.50;AN=2;BaseQRankSum=2.221;DB;DP=61;Dels=0.0;FS=1.063;HRun=2;HaplotypeScore=2.5221;MQ=60.0;MQ0=0;MQRankSum=0.478;QD=14.46;ReadPosRankSum=1.463;SNPEFF_AMINO_ACID_CHANGE=S261P;SNPEFF_CODON_CHANGE=Tcc/Ccc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_232457575_232458994;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf57;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000313965 GT:AD:DP:GQ:PL 0/1:30,31:61:99:912,0,753
2 232597475 rs8165 T C 39.43 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.72;QD=6.57;ReadPosRankSum=-0.72;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDE6D;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409772 GT:AD:DP:GQ:PL 0/1:4,2:6:69.42:69,0,93
2 232598065 rs838424 T C 76.35 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.45;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDE6D;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000428104 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:108,9,0
2 232653173 rs17271845 G T 230.28 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=0.311;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.39;MQ0=0;MQRankSum=0.933;QD=12.79;ReadPosRankSum=0.489;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COPS7B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000350033 GT:AD:DP:GQ:PL 0/1:10,8:18:99:260,0,310
2 232653481 rs3830626 A ACT 675.75 PASS AB=0.712;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.834;DB;DP=37;FS=3.952;HRun=0;HaplotypeScore=95.5945;IndelType=I;MQ=59.38;MQ0=0;MQRankSum=-0.151;QD=18.26;ReadPosRankSum=1.057;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COPS7B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000350033 GT:AD:DP:GQ:PL 0/1:22,15:37:99:715,0,618
2 232656297 rs41265109 G A 36.55 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=9.14;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COPS7B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000452375 GT:AD:DP:GQ:PL 0/1:2,2:4:60.47:67,0,60
2 232790053 rs5268 C T 71.02 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.406;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=11.84;ReadPosRankSum=0.406;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NPPC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295440 GT:AD:DP:GQ:PL 0/1:3,3:6:62.22:101,0,62
2 232888856 rs896990 T G 244.99 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.473;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9913;MQ=60.0;MQ0=0;MQRankSum=-0.263;QD=15.31;ReadPosRankSum=0.473;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DIS3L2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273009 GT:AD:DP:GQ:PL 0/1:8,8:16:99:275,0,276
2 233075234 rs72992373 C T 96.35 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.098;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.103;QD=9.64;ReadPosRankSum=-1.668;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DIS3L2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273009 GT:AD:DP:GQ:PL 0/1:5,5:10:99:126,0,143
2 233103447 rs3748885 C T 69.41 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=1.754;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.55;QD=9.92;ReadPosRankSum=-0.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DIS3L2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273009 GT:AD:DP:GQ:PL 0/1:4,3:7:99:99,0,116
2 233127979 rs72998118 T C 942.42 PASS AB=0.48;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.205;DB;DP=75;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9998;MQ=59.44;MQ0=0;MQRankSum=-0.017;QD=12.57;ReadPosRankSum=-0.434;SNPEFF_AMINO_ACID_CHANGE=H131;SNPEFF_CODON_CHANGE=caT/caC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_233127917_233128150;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DIS3L2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000424049 GT:AD:DP:GQ:PL 0/1:36,39:75:99:972,0,975
2 233198373 rs3748967 G A 55.83 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=0.322;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.322;QD=6.2;ReadPosRankSum=0.956;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DIS3L2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273009 GT:AD:DP:GQ:PL 0/1:5,4:9:85.83:86,0,136
2 233201328 rs3811578 A G 136.37 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.466;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=50.96;MQ0=0;MQRankSum=0.466;QD=12.4;ReadPosRankSum=0.717;SNPEFF_AMINO_ACID_CHANGE=S882;SNPEFF_CODON_CHANGE=tcA/tcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_233201179_233201907;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DIS3L2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000325385 GT:AD:DP:GQ:PL 0/1:5,6:11:99:166,0,161
2 233208534 rs6711186 T C 106.22 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.38;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=0.38;QD=8.85;ReadPosRankSum=1.134;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DIS3L2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000542873 GT:AD:DP:GQ:PL 0/1:7,5:12:99:136,0,188
2 233243660 rs2014448 T C 3317.28 PASS AC=2;AF=1.00;AN=2;DB;DP=96;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=49.34;MQ0=1;QD=34.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALPP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392027 GT:AD:DP:GQ:PL 1/1:0,96:96:99:3317,262,0
2 233244586 rs2853374 C G 1033.49 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.36;MQ0=0;QD=28.71;SNPEFF_AMINO_ACID_CHANGE=S199;SNPEFF_CODON_CHANGE=tcC/tcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_233244474_233244646;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALPP;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000392027 GT:AD:DP:GQ:PL 1/1:0,36:36:87.23:1066,87,0
2 233244930 rs1048988 G C 820.57 PASS AB=0.493;AC=1;AF=0.50;AN=2;BaseQRankSum=2.615;DB;DP=70;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9983;MQ=49.27;MQ0=2;MQRankSum=-5.399;QD=11.72;ReadPosRankSum=-0.821;SNPEFF_AMINO_ACID_CHANGE=R231P;SNPEFF_CODON_CHANGE=cGc/cCc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_233244896_233245030;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALPP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000392027 GT:AD:DP:GQ:PL 0/1:34,35:70:99:851,0,925
2 233245090 rs2260307 A G 164.48 PASS AB=0.702;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.6;DB;DP=58;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=1.7262;MQ=47.48;MQ0=5;MQRankSum=-1.358;QD=2.84;ReadPosRankSum=0.749;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALPP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474529 GT:AD:DP:GQ:PL 0/1:40,17:58:99:194,0,1315
2 233245141 rs2260309 T C 118.38 QDFilter2 AB=0.74;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.401;DB;DP=78;Dels=0.0;FS=3.184;HRun=0;HaplotypeScore=3.1091;MQ=47.48;MQ0=3;MQRankSum=-3.915;QD=1.52;ReadPosRankSum=-0.268;SNPEFF_AMINO_ACID_CHANGE=Y268;SNPEFF_CODON_CHANGE=taT/taC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_233245130_233245202;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALPP;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000392027 GT:AD:DP:GQ:PL 0/1:57,20:78:99:148,0,1787
2 233245210 rs13034594 C T 217.05 PASS AB=0.747;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.338;DB;DP=84;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9332;MQ=41.82;MQ0=1;MQRankSum=-2.941;QD=2.58;ReadPosRankSum=-0.038;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALPP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474529 GT:AD:DP:GQ:PL 0/1:62,21:84:99:247,0,1532
2 233245958 . C A 158.25 MQFilter40 AB=0.688;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.786;DP=32;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8321;MQ=22.39;MQ0=8;MQRankSum=0.556;QD=4.95;ReadPosRankSum=-0.146;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALPP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474529 GT:AD:DP:GQ:PL 0/1:22,10:32:99:188,0,261
2 233251534 rs73001992 C A 206.45 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.852;DB;DP=20;Dels=0.0;FS=1.778;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.247;QD=10.32;ReadPosRankSum=-0.189;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALPP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392027 GT:AD:DP:GQ:PL 0/1:10,10:20:99:236,0,284
2 233271697 rs3830644 TAC T 898.80 PASS AB=0.686;AC=1;AF=0.50;AN=2;BaseQRankSum=3.471;DB;DP=71;FS=2.095;HRun=0;HaplotypeScore=257.2516;IndelType=D;MQ=56.59;MQ0=0;MQRankSum=-0.736;QD=12.48;ReadPosRankSum=0.062;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALPPL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295453 GT:AD:DP:GQ:PL 0/1:39,33:71:99:938,0,1357
2 233272162 rs2678517 G A 213.77 PASS AB=0.385;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.991;DB;DP=13;Dels=0.0;FS=6.368;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.092;QD=16.44;ReadPosRankSum=0.271;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALPPL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295453 GT:AD:DP:GQ:PL 0/1:5,8:13:99:244,0,172
2 233272453 rs147653632 C T 346.24 PASS AB=0.421;AC=1;AF=0.50;AN=2;BaseQRankSum=1.177;DB;DP=19;Dels=0.0;FS=2.029;HRun=0;HaplotypeScore=0.0;MQ=46.67;MQ0=0;MQRankSum=-0.453;QD=18.22;ReadPosRankSum=-0.543;SNPEFF_AMINO_ACID_CHANGE=S150;SNPEFF_CODON_CHANGE=tcC/tcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_233272304_233272478;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALPPL2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000295453 GT:AD:DP:GQ:PL 0/1:8,11:19:99:376,0,178
2 233272528 rs6728119 G T 275.44 PASS AB=0.64;AC=1;AF=0.50;AN=2;BaseQRankSum=2.326;DB;DP=25;Dels=0.0;FS=4.548;HRun=0;HaplotypeScore=0.0;MQ=59.25;MQ0=0;MQRankSum=-1.371;QD=11.02;ReadPosRankSum=-2.147;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALPPL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295453 GT:AD:DP:GQ:PL 0/1:16,9:25:99:305,0,442
2 233272925 rs2678518 A G 220.16 PASS AB=0.586;AC=1;AF=0.50;AN=2;BaseQRankSum=0.518;DB;DP=29;Dels=0.0;FS=9.348;HRun=4;HaplotypeScore=0.5784;MQ=52.15;MQ0=1;MQRankSum=-3.035;QD=7.59;ReadPosRankSum=0.419;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALPPL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295453 GT:AD:DP:GQ:PL 0/1:17,12:29:99:250,0,517
2 233273244 rs17416141 C A 31.05 QDFilter2 AB=0.684;AC=1;AF=0.50;AN=2;BaseQRankSum=0.404;DB;DP=19;Dels=0.0;FS=6.021;HRun=0;HaplotypeScore=0.0;MQ=51.18;MQ0=3;MQRankSum=-2.691;QD=1.63;ReadPosRankSum=-0.942;SNPEFF_AMINO_ACID_CHANGE=L273M;SNPEFF_CODON_CHANGE=Ctg/Atg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_233273211_233273283;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALPPL2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000295453 GT:AD:DP:GQ:PL 0/1:13,6:19:61.04:61,0,452
2 233274145 rs2090543 G C 107.24 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=22.25;MQ0=4;QD=13.4;SNPEFF_AMINO_ACID_CHANGE=T429;SNPEFF_CODON_CHANGE=acG/acC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_233274042_233274158;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALPPL2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000295453 GT:AD:DP:GQ:PL 1/1:0,8:8:12.03:140,12,0
2 233310058 rs790043 C T 95.13 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=0.361;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=49.91;MQ0=0;MQRankSum=-1.159;QD=10.57;ReadPosRankSum=-1.881;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=DIS3L2P1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000509197 GT:AD:DP:GQ:PL 0/1:5,4:9:99:125,0,150
2 233322875 rs2272421 C T 750.19 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.39;MQ0=0;QD=27.78;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALPI;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295463 GT:AD:DP:GQ:PL 1/1:0,25:27:63.16:783,63,0
2 233345249 rs1190432 C A 526.51 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.78;MQ0=0;QD=27.71;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ECEL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304546 GT:AD:DP:GQ:PL 1/1:0,19:19:45.13:560,45,0
2 233346381 rs11285283 GC G 468.50 PASS AC=2;AF=1.00;AN=2;DB;DP=16;FS=0.0;HRun=5;HaplotypeScore=56.0219;IndelType=D;MQ=58.55;MQ0=0;QD=29.28;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ECEL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304546 GT:AD:DP:GQ:PL 1/1:1,15:16:45.13:511,45,0
2 233346662 rs909432 A C 240.01 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.747;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.05;MQ0=0;MQRankSum=-0.747;QD=30.0;ReadPosRankSum=0.747;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ECEL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304546 GT:AD:DP:GQ:PL 1/1:1,7:8:21.07:273,21,0
2 233346851 rs1190430 C T 48.77 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ECEL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304546 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:80,6,0
2 233347919 rs6750085 C G 138.25 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.04;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ECEL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304546 GT:AD:DP:GQ:PL 1/1:0,6:6:12.04:171,12,0
2 233348851 rs41265123 C G 576.58 PASS AB=0.45;AC=1;AF=0.50;AN=2;BaseQRankSum=4.719;DB;DP=40;Dels=0.02;FS=0.0;HRun=1;HaplotypeScore=1.8606;MQ=56.54;MQ0=0;MQRankSum=-0.083;QD=14.06;ReadPosRankSum=-0.579;SNPEFF_AMINO_ACID_CHANGE=E423Q;SNPEFF_CODON_CHANGE=Gag/Cag;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_233348711_233348933;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ECEL1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000304546 GT:AD:DP:GQ:PL 0/1:18,22:40:99:607,0,437
2 233349588 rs1529874 G A 1645.70 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.01;SNPEFF_AMINO_ACID_CHANGE=H328Y;SNPEFF_CODON_CHANGE=Cat/Tat;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_233349511_233349603;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ECEL1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000304546 GT:AD:DP:GQ:PL 1/1:0,47:47:99:1679,132,0
2 233350000 rs2573246 C G 339.81 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.98;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ECEL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304546 GT:AD:DP:GQ:PL 1/1:0,10:10:27.09:373,27,0
2 233391965 rs4973537 A G 275.66 PASS AB=0.567;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.646;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.71;MQ0=0;MQRankSum=-1.507;QD=9.19;ReadPosRankSum=1.004;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CHRND;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258385 GT:AD:DP:GQ:PL 0/1:17,13:30:99:306,0,615
2 233392020 rs113930536 A AAAAGAG 1225.37 PASS AB=0.724;AC=1;AF=0.50;AN=2;BaseQRankSum=1.547;DB;DP=70;FS=14.816;HRun=0;HaplotypeScore=460.8673;IndelType=I;MQ=53.11;MQ0=0;MQRankSum=-3.14;QD=17.26;ReadPosRankSum=-2.323;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CHRND;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258385 GT:AD:DP:GQ:PL 0/1:43,22:70:99:1264,0,2053
2 233395029 rs12463989 T C 34.09 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=11.36;ReadPosRankSum=-0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CHRND;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000449596 GT:AD:DP:GQ:PL 0/1:1,2:3:33.20:64,0,33
2 233396375 rs3762528 T C 543.28 PASS AB=0.412;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.327;DB;DP=34;Dels=0.0;FS=3.873;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.472;QD=15.98;ReadPosRankSum=-1.347;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CHRND;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000412233 GT:AD:DP:GQ:PL 0/1:14,20:34:99:573,0,478
2 233398497 rs11385225 A AG 245.85 PASS AB=0.708;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.586;DB;DP=17;FS=0.0;HRun=1;HaplotypeScore=48.2315;IndelType=I;MQ=57.23;MQ0=0;MQRankSum=-0.342;QD=14.46;ReadPosRankSum=0.244;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CHRND;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000412233 GT:AD:DP:GQ:PL 0/1:10,7:17:99:285,0,369
2 233400074 rs2767 A G 312.90 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.393;DB;DP=33;Dels=0.0;FS=4.847;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.131;QD=9.48;ReadPosRankSum=-0.917;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CHRND;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000412233 GT:AD:DP:GQ:PL 0/1:21,12:33:99:343,0,715
2 233404294 rs11674608 C G 168.99 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.323;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.33;MQ0=0;MQRankSum=0.065;QD=12.07;ReadPosRankSum=-0.839;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CHRND;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258385 GT:AD:DP:GQ:PL 0/1:8,6:14:99:199,0,295
2 233404590 rs12996322 G C 133.47 PASS AB=0.652;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.032;DB;DP=23;Dels=0.0;FS=11.467;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.097;QD=5.8;ReadPosRankSum=-0.226;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CHRND;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258385 GT:AD:DP:GQ:PL 0/1:15,8:23:99:163,0,517
2 233407904 . C A 253.64 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.079;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.643;QD=12.68;ReadPosRankSum=-0.643;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CHRNG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485094 GT:AD:DP:GQ:PL 0/1:10,10:20:99:284,0,288
2 233408220 rs10714586 AG A 294.73 PASS AC=2;AF=1.00;AN=2;DB;DP=14;FS=0.0;HRun=7;HaplotypeScore=94.8316;IndelType=D;MQ=57.43;MQ0=0;QD=21.05;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CHRNG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485094 GT:AD:DP:GQ:PL 1/1:3,11:14:33.07:337,33,0
2 233408239 rs2573206 C G 212.67 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=0.471;DB;DP=14;Dels=0.0;FS=3.123;HRun=1;HaplotypeScore=0.9734;MQ=55.2;MQ0=0;MQRankSum=-0.225;QD=15.19;ReadPosRankSum=-0.715;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CHRNG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485094 GT:AD:DP:GQ:PL 0/1:6,8:14:99:243,0,150
2 233408514 rs72991926 A T 215.52 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=1.369;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=-0.935;QD=15.39;ReadPosRankSum=0.66;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CHRNG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485094 GT:AD:DP:GQ:PL 0/1:6,7:14:99:246,0,201
2 233410294 rs2099489 C T 330.09 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.289;DB;DP=26;Dels=0.0;FS=1.77;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-2.135;QD=12.7;ReadPosRankSum=-0.283;SNPEFF_AMINO_ACID_CHANGE=R422;SNPEFF_CODON_CHANGE=cgC/cgT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_233410253_233410426;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CHRNG;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000389492 GT:AD:DP:GQ:PL 0/1:12,14:26:99:360,0,324
2 233415978 rs11899983 T C 1665.82 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.6385;MQ=59.54;MQ0=0;QD=33.32;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CHRNG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389494 GT:AD:DP:GQ:PL 1/1:0,50:50:99:1699,126,0
2 233421284 rs35324785 CT C 4194.31 PASS AC=2;AF=1.00;AN=2;DB;DP=121;FS=0.0;HRun=4;HaplotypeScore=334.8364;IndelType=D;MQ=61.0;MQ0=0;QD=34.66;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EIF4E2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258416 GT:AD:DP:GQ:PL 1/1:4,117:121:99:4194,352,0
2 233422390 rs1190439 G A 247.97 PASS AB=0.55;AC=1;AF=0.50;AN=2;BaseQRankSum=1.595;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.152;QD=12.4;ReadPosRankSum=0.152;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EIF4E2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463074 GT:AD:DP:GQ:PL 0/1:11,9:20:99:278,0,382
2 233428927 rs1656397 G C 153.36 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=0.597;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.278;QD=13.94;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EIF4E2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000258416 GT:AD:DP:GQ:PL 0/1:4,7:11:99:183,0,137
2 233498506 rs112941683 C T 48.08 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.04;SNPEFF_AMINO_ACID_CHANGE=A31V;SNPEFF_CODON_CHANGE=gCc/gTc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_233497938_233498716;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EFHD1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000264059 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
2 233498669 rs2276557 G T 190.41 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.154;DB;DP=14;Dels=0.0;FS=2.276;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.201;QD=13.6;ReadPosRankSum=-0.91;SNPEFF_AMINO_ACID_CHANGE=P85;SNPEFF_CODON_CHANGE=ccG/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_233497938_233498716;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EFHD1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000264059 GT:AD:DP:GQ:PL 0/1:7,7:14:99:220,0,174
2 233536926 rs11684420 T C 587.53 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=39.17;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EFHD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264059 GT:AD:DP:GQ:PL 1/1:0,15:15:45.15:621,45,0
2 233537125 rs11550699 A G 1652.53 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.4;SNPEFF_AMINO_ACID_CHANGE=K186R;SNPEFF_CODON_CHANGE=aAa/aGa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_233537019_233537153;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EFHD1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000264059 GT:AD:DP:GQ:PL 1/1:0,50:50:99:1686,123,0
2 233641010 rs41266951 A T 182.28 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.813;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.779;QD=15.19;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GIGYF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463554 GT:AD:DP:GQ:PL 0/1:6,6:12:99:212,0,208
2 233641083 rs737027 G C 790.11 PASS AB=0.368;AC=1;AF=0.50;AN=2;BaseQRankSum=0.106;DB;DP=38;Dels=0.0;FS=1.986;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.197;QD=20.79;ReadPosRankSum=-1.135;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GIGYF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463554 GT:AD:DP:GQ:PL 0/1:14,24:38:99:820,0,438
2 233651737 rs10714136 AT A 141.81 PASS AC=2;AF=1.00;AN=2;DB;DP=7;FS=0.0;HRun=7;HaplotypeScore=22.1851;IndelType=D;MQ=57.28;MQ0=0;QD=20.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GIGYF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373563 GT:AD:DP:GQ:PL 1/1:1,6:7:18.04:184,18,0
2 233655236 rs13393621 A G 95.38 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.68;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.817;QD=7.34;ReadPosRankSum=-1.381;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GIGYF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000424038 GT:AD:DP:GQ:PL 0/1:8,5:13:99:125,0,286
2 233660704 rs2305139 T G 260.02 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.006;DB;DP=22;Dels=0.0;FS=3.222;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.263;QD=11.82;ReadPosRankSum=-0.131;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GIGYF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000410033 GT:AD:DP:GQ:PL 0/1:11,11:22:99:290,0,396
2 233671539 rs13401578 T G 37.50 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.922;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=5.799;MQ=50.65;MQ0=0;MQRankSum=-1.368;QD=4.69;ReadPosRankSum=0.922;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GIGYF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373563 GT:AD:DP:GQ:PL 0/1:4,4:8:67.49:67,0,140
2 233681512 rs1078323 T G 621.07 PASS AB=0.389;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.014;DB;DP=36;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=17.25;ReadPosRankSum=0.633;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GIGYF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000482952 GT:AD:DP:GQ:PL 0/1:14,22:36:99:651,0,476
2 233684402 rs2305141 A G 296.15 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.91;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GIGYF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000423659 GT:AD:DP:GQ:PL 1/1:0,9:9:27.08:329,27,0
2 233684833 rs11689661 C T 30.41 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=6.08;ReadPosRankSum=-0.358;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GIGYF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000423659 GT:AD:DP:GQ:PL 0/1:3,2:5:60.40:60,0,103
2 233708806 rs3816334 A G 1241.12 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.644;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.8154;MQ=60.0;MQ0=0;MQRankSum=-1.111;QD=31.03;ReadPosRankSum=1.644;SNPEFF_AMINO_ACID_CHANGE=T823A;SNPEFF_CODON_CHANGE=Aca/Gca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_233708722_233708965;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GIGYF2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000452341 GT:AD:DP:GQ:PL 1/1:1,39:40:93.30:1274,93,0
2 233710713 rs4973054 G C 52.75 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=51.77;MQ0=0;QD=17.58;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GIGYF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426102 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:84,6,0
2 233711987 rs12328140 G A 527.22 PASS AB=0.45;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.733;DB;DP=40;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=59.42;MQ0=0;MQRankSum=-0.127;QD=13.18;ReadPosRankSum=1.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GIGYF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426102 GT:AD:DP:GQ:PL 0/1:18,22:40:99:557,0,600
2 233712049 rs2305137 G A 2164.35 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=58.93;MQ0=0;QD=33.3;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GIGYF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426102 GT:AD:DP:GQ:PL 1/1:0,64:65:99:2197,163,0
2 233712226 rs74771761 CACA C 1257.09 PASS AC=2;AF=1.00;AN=2;DB;DP=31;FS=0.0;HRun=0;HaplotypeScore=238.2135;IndelType=D;MQ=54.68;MQ0=0;QD=40.55;SNPEFF_AMINO_ACID_CHANGE=PQ1204P;SNPEFF_CODON_CHANGE=ccacag/ccg;SNPEFF_EFFECT=CODON_CHANGE_PLUS_CODON_DELETION;SNPEFF_EXON_ID=exon_2_233712058_233712281;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GIGYF2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000409196 GT:AD:DP:GQ:PL 1/1:0,30:31:84.25:1299,84,0
2 233712248 rs12328151 G A 189.54 PASS AB=0.552;AC=1;AF=0.50;AN=2;BaseQRankSum=2.923;DB;DP=33;Dels=0.0;FS=1.76;HRun=0;HaplotypeScore=4.6982;MQ=44.8;MQ0=0;MQRankSum=-0.277;QD=5.74;ReadPosRankSum=-1.016;SNPEFF_AMINO_ACID_CHANGE=P1211;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_233712058_233712281;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GIGYF2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000409196 GT:AD:DP:GQ:PL 0/1:16,13:33:99:220,0,218
2 233712296 rs6437074 G A 848.06 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=52.91;MQ0=0;QD=27.36;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GIGYF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426102 GT:AD:DP:GQ:PL 1/1:0,31:31:66.21:881,66,0
2 233721455 rs1947105 G A 1671.30 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=58.13;MQ0=0;QD=33.43;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GIGYF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373563 GT:AD:DP:GQ:PL 1/1:0,50:50:99:1704,126,0
2 233744021 rs709937 G A 42.07 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=51.77;MQ0=0;QD=14.02;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf82;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331342 GT:AD:DP:GQ:PL 1/1:1,2:3:6.02:73,6,0
2 233744130 rs72202654 GCCC G 558.31 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.882;DB;DP=30;FS=0.0;HRun=13;HaplotypeScore=230.8858;IndelType=D;MQ=53.87;MQ0=0;MQRankSum=-0.125;QD=18.61;ReadPosRankSum=1.045;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf82;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331342 GT:AD:DP:GQ:PL 1/1:7,14:30:24.25:600,24,0
2 233750074 rs2292725 C T 471.79 PASS AB=0.609;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.468;DB;DP=46;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9578;MQ=58.48;MQ0=0;MQRankSum=0.37;QD=10.26;ReadPosRankSum=2.089;SNPEFF_AMINO_ACID_CHANGE=V174;SNPEFF_CODON_CHANGE=gtG/gtA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_233750033_233750079;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NGEF;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000416114 GT:AD:DP:GQ:PL 0/1:28,18:46:99:502,0,700
2 233750118 rs2292726 G A 373.34 PASS AB=0.552;AC=1;AF=0.50;AN=2;BaseQRankSum=1.626;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=58.39;MQ0=0;MQRankSum=-1.334;QD=12.87;ReadPosRankSum=-1.674;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NGEF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264051 GT:AD:DP:GQ:PL 0/1:16,13:29:99:403,0,449
2 233752551 rs2250660 G C 46.38 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.19;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NGEF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000458735 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:78,6,0
2 233752639 rs2250665 A T 203.38 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.9;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NGEF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000458735 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:236,18,0
2 233757443 rs2166441 C T 170.18 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.04;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NGEF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409079 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:203,15,0
2 233757679 rs748002 G A 704.58 PASS AB=0.569;AC=1;AF=0.50;AN=2;BaseQRankSum=1.005;DB;DP=58;Dels=0.0;FS=5.736;HRun=0;HaplotypeScore=0.6651;MQ=58.8;MQ0=0;MQRankSum=1.086;QD=12.15;ReadPosRankSum=-1.15;SNPEFF_AMINO_ACID_CHANGE=A247;SNPEFF_CODON_CHANGE=gcC/gcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_233757608_233757760;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NGEF;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000541023 GT:AD:DP:GQ:PL 0/1:33,25:58:99:735,0,927
2 233757697 rs895432 A G 1786.15 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.71;MQ0=0;QD=33.08;SNPEFF_AMINO_ACID_CHANGE=I241;SNPEFF_CODON_CHANGE=atT/atC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_233757608_233757760;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NGEF;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000541023 GT:AD:DP:GQ:PL 1/1:0,54:54:99:1819,138,0
2 233759362 rs895431 G C 455.67 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.48;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NGEF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264051 GT:AD:DP:GQ:PL 1/1:0,15:16:36.12:489,36,0
2 233759695 rs938569 G C 98.57 PASS AB=0.688;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.776;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9789;MQ=58.55;MQ0=0;MQRankSum=-0.306;QD=6.16;ReadPosRankSum=-0.429;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NGEF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264051 GT:AD:DP:GQ:PL 0/1:11,5:16:99:129,0,363
2 233785015 rs778354 G A 1457.12 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.54;SNPEFF_AMINO_ACID_CHANGE=P159;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_233784994_233785295;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NGEF;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000541023 GT:AD:DP:GQ:PL 1/1:0,41:41:99:1490,111,0
2 233791608 rs1878289 C G 37.29 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.026;QD=9.32;ReadPosRankSum=1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NGEF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264051 GT:AD:DP:GQ:PL 0/1:2,2:4:67.28:67,0,68
2 233791648 rs2592127 G T 142.76 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.47;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.66;MQ0=0;MQRankSum=0.47;QD=14.28;ReadPosRankSum=0.103;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NGEF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264051 GT:AD:DP:GQ:PL 0/1:5,5:10:99:173,0,164
2 233791988 rs2675959 T A 165.89 PASS AB=0.3;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.573;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=-1.203;QD=16.59;ReadPosRankSum=2.054;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NGEF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264051 GT:AD:DP:GQ:PL 0/1:3,7:10:92.61:196,0,93
2 233792038 rs62191809 G T 126.92 PASS AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=21.15;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NGEF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264051 GT:AD:DP:GQ:PL 0/1:1,5:6:20.53:157,0,21
2 233834761 rs4246648 A T 72.20 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=0.323;DB;DP=14;Dels=0.0;FS=0.0;HRun=8;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.452;QD=5.16;ReadPosRankSum=-0.323;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NGEF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264051 GT:AD:DP:GQ:PL 0/1:8,6:14:99:102,0,283
2 233834785 rs4973587 A T 227.26 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=0.922;DB;DP=26;Dels=0.0;FS=0.0;HRun=7;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=1.397;QD=8.74;ReadPosRankSum=0.29;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NGEF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264051 GT:AD:DP:GQ:PL 0/1:16,10:26:99:257,0,558
2 233834975 rs4973588 A G 2006.67 PASS AB=0.544;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.235;DB;DP=158;Dels=0.0;FS=5.95;HRun=0;HaplotypeScore=1.7262;MQ=59.85;MQ0=0;MQRankSum=-0.878;QD=12.7;ReadPosRankSum=0.339;SNPEFF_AMINO_ACID_CHANGE=M1T;SNPEFF_CODON_CHANGE=aTg/aCg;SNPEFF_EFFECT=START_LOST;SNPEFF_EXON_ID=exon_2_233834924_233835038;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NGEF;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000541023 GT:AD:DP:GQ:PL 0/1:86,72:158:99:2037,0,2613
2 233839174 rs6437079 G A 65.48 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.937;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.55;QD=9.35;ReadPosRankSum=-1.754;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NGEF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264051 GT:AD:DP:GQ:PL 0/1:4,3:7:95.48:95,0,142
2 233880271 rs60652209 A G 373.46 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.73;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC106876.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409905 GT:AD:DP:GQ:PL 1/1:0,13:13:36.08:406,36,0
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2 234070233 rs28576692 T C 388.92 PASS AB=0.458;AC=1;AF=0.50;AN=2;BaseQRankSum=2.491;DB;DP=24;Dels=0.0;FS=3.171;HRun=0;HaplotypeScore=0.9832;MQ=60.0;MQ0=0;MQRankSum=-0.174;QD=16.2;ReadPosRankSum=-0.927;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INPP5D;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359570 GT:AD:DP:GQ:PL 0/1:11,13:24:99:419,0,349
2 234072626 rs141642539 T C 412.68 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.74;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INPP5D;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359570 GT:AD:DP:GQ:PL 1/1:0,13:13:39.11:446,39,0
2 234078056 rs11386687 AC A 203.69 PASS AB=0.708;AC=1;AF=0.50;AN=2;BaseQRankSum=1.317;DB;DP=17;FS=1.913;HRun=1;HaplotypeScore=41.6969;IndelType=D;MQ=60.0;MQ0=0;MQRankSum=-0.83;QD=11.98;ReadPosRankSum=1.025;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INPP5D;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000493078 GT:AD:DP:GQ:PL 0/1:10,7:17:99:243,0,429
2 234078582 rs10754947 G A 660.12 PASS AB=0.54;AC=1;AF=0.50;AN=2;BaseQRankSum=4.769;DB;DP=50;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.238;QD=13.2;ReadPosRankSum=-0.548;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INPP5D;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000493078 GT:AD:DP:GQ:PL 0/1:27,23:50:99:690,0,701
2 234091158 rs4571051 T C 855.05 PASS AB=0.544;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.803;DB;DP=79;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.71;MQ0=0;MQRankSum=0.82;QD=10.82;ReadPosRankSum=-0.12;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INPP5D;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000493632 GT:AD:DP:GQ:PL 0/1:43,36:79:99:885,0,1338
2 234093035 rs6740918 G A 1167.86 PASS AB=0.494;AC=1;AF=0.50;AN=2;BaseQRankSum=4.115;DB;DP=77;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=0.698;QD=15.17;ReadPosRankSum=-0.103;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INPP5D;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000493632 GT:AD:DP:GQ:PL 0/1:38,39:77:99:1198,0,1006
2 234098802 rs3890760 T C 34.45 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.026;QD=8.61;ReadPosRankSum=1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INPP5D;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359570 GT:AD:DP:GQ:PL 0/1:2,2:4:64.45:64,0,72
2 234107070 rs7569827 G A 401.15 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.773;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.32;MQ0=0;MQRankSum=-0.735;QD=11.8;ReadPosRankSum=0.81;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=INPP5D;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359570 GT:AD:DP:GQ:PL 0/1:17,17:34:99:431,0,507
2 234172846 rs6708373 A G 205.65 PASS AB=0.474;AC=1;AF=0.50;AN=2;BaseQRankSum=1.347;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=58.78;MQ0=0;MQRankSum=-0.204;QD=10.82;ReadPosRankSum=-1.674;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATG16L1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485623 GT:AD:DP:GQ:PL 0/1:9,10:19:99:236,0,290
2 234173503 rs12994997 G A 871.77 PASS AB=0.474;AC=1;AF=0.50;AN=2;BaseQRankSum=3.588;DB;DP=57;Dels=0.0;FS=2.774;HRun=1;HaplotypeScore=0.0;MQ=59.19;MQ0=0;MQRankSum=-0.408;QD=15.29;ReadPosRankSum=1.894;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATG16L1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485623 GT:AD:DP:GQ:PL 0/1:27,30:57:99:902,0,771
2 234178453 rs12994971 C T 124.58 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=0.322;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.05;MQ0=0;MQRankSum=0.322;QD=15.57;ReadPosRankSum=0.684;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATG16L1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000431917 GT:AD:DP:GQ:PL 0/1:3,5:8:99:155,0,101
2 234181593 rs2289475 G C 332.41 PASS AB=0.707;AC=1;AF=0.50;AN=2;BaseQRankSum=0.959;DB;DP=41;Dels=0.0;FS=1.595;HRun=0;HaplotypeScore=2.8303;MQ=59.44;MQ0=0;MQRankSum=-0.369;QD=8.11;ReadPosRankSum=0.9;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATG16L1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000347464 GT:AD:DP:GQ:PL 0/1:29,12:41:99:362,0,883
2 234182240 rs2289472 C T 240.53 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.468;DB;DP=16;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.8667;MQ=58.55;MQ0=0;MQRankSum=0.788;QD=15.03;ReadPosRankSum=0.788;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATG16L1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334050 GT:AD:DP:GQ:PL 0/1:8,8:16:99:271,0,282
2 234183368 rs2241880 A G 337.71 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=1.81;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9999;MQ=59.3;MQ0=0;MQRankSum=-0.603;QD=10.23;ReadPosRankSum=0.72;SNPEFF_AMINO_ACID_CHANGE=T137A;SNPEFF_CODON_CHANGE=Act/Gct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_234183322_234183424;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATG16L1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000347464 GT:AD:DP:GQ:PL 0/1:20,12:33:99:368,0,570
2 234183468 rs2241879 G A 105.70 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.876;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.652;QD=11.74;ReadPosRankSum=-0.876;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATG16L1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000417017 GT:AD:DP:GQ:PL 0/1:5,4:9:99:136,0,175
2 234184417 rs3792109 G A 1673.46 PASS AB=0.447;AC=1;AF=0.50;AN=2;BaseQRankSum=3.498;DB;DP=103;Dels=0.0;FS=1.634;HRun=0;HaplotypeScore=3.3196;MQ=59.55;MQ0=0;MQRankSum=0.142;QD=16.25;ReadPosRankSum=0.425;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATG16L1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000417017 GT:AD:DP:GQ:PL 0/1:46,57:103:99:1703,0,1276
2 234186489 rs2241877 A G 67.62 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.21;MQ0=0;MQRankSum=0.358;QD=13.52;ReadPosRankSum=-0.358;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATG16L1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000417017 GT:AD:DP:GQ:PL 0/1:2,3:5:67.36:98,0,67
2 234197717 rs4663136 C G 169.79 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=2.637;DB;DP=11;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.825;QD=15.44;ReadPosRankSum=0.143;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATG16L1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334050 GT:AD:DP:GQ:PL 0/1:5,6:11:99:200,0,154
2 234227523 rs2304777 A G 527.66 PASS AB=0.596;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.029;DB;DP=52;Dels=0.0;FS=3.858;HRun=0;HaplotypeScore=0.0;MQ=59.11;MQ0=0;MQRankSum=0.145;QD=10.15;ReadPosRankSum=1.688;SNPEFF_AMINO_ACID_CHANGE=H88R;SNPEFF_CODON_CHANGE=cAt/cGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_234227397_234227650;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SAG;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000415974 GT:AD:DP:GQ:PL 0/1:31,21:52:99:558,0,1044
2 234227693 rs2304776 C T 235.27 PASS AB=0.55;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.511;DB;DP=20;Dels=0.0;FS=4.665;HRun=0;HaplotypeScore=0.0;MQ=59.06;MQ0=0;MQRankSum=0.204;QD=11.76;ReadPosRankSum=1.429;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SAG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000415974 GT:AD:DP:GQ:PL 0/1:11,9:20:99:265,0,288
2 234227936 rs34882880 T TG 269.46 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.62;DB;DP=14;FS=11.139;HRun=5;HaplotypeScore=28.9402;IndelType=I;MQ=60.77;MQ0=0;MQRankSum=-0.849;QD=19.25;ReadPosRankSum=1.929;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SAG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000415974 GT:AD:DP:GQ:PL 0/1:6,8:14:89.92:308,0,90
2 234235749 rs2304774 G C 1532.92 PASS AB=0.496;AC=1;AF=0.50;AN=2;BaseQRankSum=3.385;DB;DP=117;Dels=0.0;FS=4.171;HRun=1;HaplotypeScore=3.9302;MQ=59.45;MQ0=0;MQRankSum=-0.123;QD=13.1;ReadPosRankSum=-0.164;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SAG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462487 GT:AD:DP:GQ:PL 0/1:58,59:117:99:1563,0,1656
2 234238254 rs745498 T G 472.13 PASS AB=0.638;AC=1;AF=0.50;AN=2;BaseQRankSum=4.351;DB;DP=47;Dels=0.0;FS=6.289;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.605;QD=10.05;ReadPosRankSum=0.919;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SAG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000447536 GT:AD:DP:GQ:PL 0/1:30,17:47:99:502,0,1069
2 234247627 rs2241874 T C 34.94 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.82;MQ0=0;MQRankSum=0.72;QD=5.82;ReadPosRankSum=1.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SAG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000252857 GT:AD:DP:GQ:PL 0/1:4,2:6:64.93:65,0,150
2 234255547 rs1046974 G A 502.93 PASS AB=0.528;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.116;DB;DP=36;Dels=0.0;FS=2.351;HRun=0;HaplotypeScore=0.9665;MQ=59.36;MQ0=0;MQRankSum=-0.116;QD=13.97;ReadPosRankSum=-0.05;SNPEFF_AMINO_ACID_CHANGE=V403I;SNPEFF_CODON_CHANGE=Gtt/Att;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_234255448_234255701;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SAG;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000252857 GT:AD:DP:GQ:PL 0/1:19,17:36:99:533,0,643
2 234294561 rs3075537 T TTC 1490.73 PASS AB=0.646;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.622;DB;DP=53;FS=1.107;HRun=0;HaplotypeScore=142.2196;IndelType=I;MQ=60.41;MQ0=0;MQRankSum=-1.16;QD=28.13;ReadPosRankSum=1.179;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DGKD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264057 GT:AD:DP:GQ:PL 0/1:24,29:53:99:1530,0,808
2 234294791 rs838716 G C 88.22 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.41;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DGKD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264057 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:120,9,0
2 234297156 rs838719 T C 78.66 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.383;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.633;QD=7.87;ReadPosRankSum=1.036;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DGKD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264057 GT:AD:DP:GQ:PL 0/1:6,4:10:99:109,0,220
2 234346660 rs2242102 G A 68.23 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=0.322;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.322;QD=8.53;ReadPosRankSum=1.92;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DGKD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427930 GT:AD:DP:GQ:PL 0/1:5,3:8:98.23:98,0,176
2 234347091 rs3214826 TA T 272.02 PASS AB=0.646;AC=1;AF=0.50;AN=2;BaseQRankSum=2.147;DB;DP=31;FS=3.9;HRun=11;HaplotypeScore=92.709;IndelType=D;MQ=60.65;MQ0=0;MQRankSum=-0.173;QD=8.77;ReadPosRankSum=0.37;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DGKD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427930 GT:AD:DP:GQ:PL 0/1:14,17:31:99:311,0,268
2 234354245 rs2305542 G A 679.72 PASS AB=0.389;AC=1;AF=0.50;AN=2;BaseQRankSum=3.326;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.36;MQ0=0;MQRankSum=0.892;QD=18.88;ReadPosRankSum=0.373;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DGKD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474488 GT:AD:DP:GQ:PL 0/1:14,22:36:99:710,0,372
2 234357496 rs56336977 C T 71.19 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.358;QD=14.24;ReadPosRankSum=0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DGKD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264057 GT:AD:DP:GQ:PL 0/1:2,3:5:64.58:101,0,65
2 234359375 rs72980361 A G 114.53 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.72;QD=19.09;ReadPosRankSum=-0.72;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DGKD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465569 GT:AD:DP:GQ:PL 0/1:2,4:6:63.23:145,0,63
2 234368821 rs2290464 T C 684.15 PASS AB=0.404;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=47;Dels=0.0;FS=7.34;HRun=0;HaplotypeScore=0.6651;MQ=59.51;MQ0=0;MQRankSum=0.683;QD=14.56;ReadPosRankSum=0.77;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DGKD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471764 GT:AD:DP:GQ:PL 0/1:19,28:47:99:714,0,613
2 234371351 rs2228939 G A 1672.10 PASS AB=0.531;AC=1;AF=0.50;AN=2;BaseQRankSum=2.887;DB;DP=130;Dels=0.0;FS=3.41;HRun=0;HaplotypeScore=4.5604;MQ=59.32;MQ0=0;MQRankSum=-0.404;QD=12.86;ReadPosRankSum=1.036;SNPEFF_AMINO_ACID_CHANGE=T1008;SNPEFF_CODON_CHANGE=acG/acA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_234371289_234371381;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DGKD;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000409813 GT:AD:DP:GQ:PL 0/1:69,61:130:99:1702,0,1945
2 234372985 rs2242098 A C 202.31 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.675;DB;DP=21;Dels=0.0;FS=1.922;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.888;QD=9.63;ReadPosRankSum=-0.959;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DGKD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471764 GT:AD:DP:GQ:PL 0/1:12,9:21:99:232,0,368
2 234394487 rs1048603 G A 606.28 PASS AB=0.588;AC=1;AF=0.50;AN=2;BaseQRankSum=1.357;DB;DP=51;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.734;MQ=59.09;MQ0=0;MQRankSum=0.644;QD=11.89;ReadPosRankSum=0.861;SNPEFF_AMINO_ACID_CHANGE=R1111C;SNPEFF_CODON_CHANGE=Cgt/Tgt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_234394413_234394623;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP40;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000251722 GT:AD:DP:GQ:PL 0/1:30,21:51:99:636,0,842
2 234396566 rs10929178 G C 212.56 PASS AB=0.438;AC=1;AF=0.50;AN=2;BaseQRankSum=0.295;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.295;QD=13.28;ReadPosRankSum=0.059;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP40;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409945 GT:AD:DP:GQ:PL 0/1:7,9:16:99:243,0,153
2 234405374 rs2602386 A C 568.78 PASS AB=0.528;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.109;DB;DP=36;Dels=0.0;FS=10.571;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.268;QD=15.8;ReadPosRankSum=-0.285;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP40;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000483216 GT:AD:DP:GQ:PL 0/1:19,17:36:99:599,0,615
2 234433081 rs6746234 G A 580.36 PASS AB=0.581;AC=1;AF=0.50;AN=2;BaseQRankSum=5.034;DB;DP=43;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.5784;MQ=59.46;MQ0=0;MQRankSum=0.308;QD=13.5;ReadPosRankSum=0.997;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP40;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485943 GT:AD:DP:GQ:PL 0/1:25,18:43:99:610,0,706
2 234438246 rs78486600 C CT 542.94 PASS AC=2;AF=1.00;AN=2;DB;DP=13;FS=0.0;HRun=1;HaplotypeScore=26.7617;IndelType=I;MQ=60.0;MQ0=0;QD=41.76;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP40;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000251722 GT:AD:DP:GQ:PL 1/1:0,13:13:39.13:585,39,0
2 234438354 rs12692193 C T 48.77 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP40;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000251722 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:80,6,0
2 234442437 rs11332355 CA C 481.16 PASS AC=2;AF=1.00;AN=2;DB;DP=27;FS=0.0;HRun=11;HaplotypeScore=69.5303;IndelType=D;MQ=60.4;MQ0=0;QD=17.82;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP40;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000251722 GT:AD:DP:GQ:PL 1/1:5,21:27:64.96:523,65,0
2 234449316 rs2167884 G A 4458.25 PASS AC=2;AF=1.00;AN=2;DB;DP=131;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.8305;MQ=59.65;MQ0=0;QD=34.03;SNPEFF_AMINO_ACID_CHANGE=L387;SNPEFF_CODON_CHANGE=Ctg/Ttg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_234449308_234449412;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP40;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000251722 GT:AD:DP:GQ:PL 1/1:0,131:131:99:4458,325,0
2 234449462 rs1545525 T C 2851.48 PASS AC=2;AF=1.00;AN=2;DB;DP=77;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9578;MQ=59.4;MQ0=0;QD=37.03;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP40;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000435959 GT:AD:DP:GQ:PL 1/1:0,77:77:99:2884,214,0
2 234450822 rs1901812 T C 107.68 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.92;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP40;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000435959 GT:AD:DP:GQ:PL 1/1:0,4:4:12.02:140,12,0
2 234457900 rs3965793 T A 421.46 PASS AB=0.581;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.41;DB;DP=43;Dels=0.0;FS=1.298;HRun=1;HaplotypeScore=1.6483;MQ=59.03;MQ0=0;MQRankSum=-0.146;QD=9.8;ReadPosRankSum=-0.331;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP40;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000251722 GT:AD:DP:GQ:PL 0/1:25,18:43:99:451,0,713
2 234460388 rs4663698 G A 52.75 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.37;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP40;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427947 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
2 234463310 rs190552980 G A 354.13 PASS AB=0.313;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.606;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=22.13;ReadPosRankSum=-0.453;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP40;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484528 GT:AD:DP:GQ:PL 0/1:5,11:16:99:384,0,164
2 234469664 rs6753062 T C 1731.20 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.66;SNPEFF_AMINO_ACID_CHANGE=I95V;SNPEFF_CODON_CHANGE=Ata/Gta;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_234469389_234469679;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP40;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000443711 GT:AD:DP:GQ:PL 1/1:0,53:53:99:1764,129,0
2 234469974 rs11690315 G C 99.36 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=29.0;MQ0=0;QD=24.84;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP40;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000251722 GT:AD:DP:GQ:PL 1/1:0,4:4:12.03:132,12,0
2 234526794 rs1042591 T G 1723.60 PASS AB=0.565;AC=1;AF=0.50;AN=2;BaseQRankSum=0.787;DB;DP=147;Dels=0.0;FS=1.312;HRun=1;HaplotypeScore=3.8651;MQ=58.17;MQ0=0;MQRankSum=-1.307;QD=11.73;ReadPosRankSum=0.578;SNPEFF_AMINO_ACID_CHANGE=L147;SNPEFF_CODON_CHANGE=ctT/ctG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_234526291_234527208;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UGT1A8;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000373450 GT:AD:DP:GQ:PL 0/1:83,64:147:99:1754,0,2688
2 234590527 rs7586110 T G 356.73 PASS AB=0.605;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.166;DB;DP=38;Dels=0.0;FS=1.742;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=0.06;QD=9.39;ReadPosRankSum=1.344;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UGT1A10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344644 GT:AD:DP:GQ:PL 0/1:23,15:38:99:387,0,732
2 234590616 rs7577677 C A 653.40 PASS AB=0.565;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.812;DB;DP=63;Dels=0.0;FS=1.008;HRun=0;HaplotypeScore=2.8135;MQ=59.63;MQ0=0;MQRankSum=0.694;QD=10.37;ReadPosRankSum=0.738;SNPEFF_AMINO_ACID_CHANGE=P11;SNPEFF_CODON_CHANGE=ccC/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_234590584_234591438;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UGT1A7;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000373426 GT:AD:DP:GQ:PL 0/1:35,27:63:99:683,0,1131
2 234590970 rs17868323 T G 1024.60 SnpCluster AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=1.847;DB;DP=108;Dels=0.0;FS=9.541;HRun=1;HaplotypeScore=0.5784;MQ=55.34;MQ0=2;MQRankSum=-3.411;QD=9.49;ReadPosRankSum=0.231;SNPEFF_AMINO_ACID_CHANGE=N129K;SNPEFF_CODON_CHANGE=aaT/aaG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_234590584_234591438;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UGT1A7;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000373426 GT:AD:DP:GQ:PL 0/1:63,45:108:99:1055,0,2066
2 234590974 rs17863778 C A 239.24 SnpCluster AB=0.566;AC=1;AF=0.50;AN=2;BaseQRankSum=1.152;DB;DP=106;Dels=0.0;FS=5.135;HRun=0;HaplotypeScore=0.5784;MQ=55.25;MQ0=2;MQRankSum=-1.288;QD=2.26;ReadPosRankSum=-0.542;SNPEFF_AMINO_ACID_CHANGE=R131;SNPEFF_CODON_CHANGE=Cga/Aga;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_234590584_234591438;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UGT1A7;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000373426 GT:AD:DP:GQ:PL 0/1:60,46:106:99:269,0,1954
2 234590975 rs17868324 G A 218.05 SnpCluster AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=1.309;DB;DP=106;Dels=0.0;FS=3.769;HRun=4;HaplotypeScore=0.5784;MQ=55.25;MQ0=2;MQRankSum=-1.435;QD=2.06;ReadPosRankSum=-0.744;SNPEFF_AMINO_ACID_CHANGE=R131Q;SNPEFF_CODON_CHANGE=cGa/cAa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_234590584_234591438;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UGT1A7;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000373426 GT:AD:DP:GQ:PL 0/1:60,45:106:99:248,0,1951
2 234591205 rs11692021 T C 1927.23 PASS AB=0.549;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.344;DB;DP=164;Dels=0.0;FS=9.45;HRun=0;HaplotypeScore=4.4386;MQ=58.51;MQ0=1;MQRankSum=-4.698;QD=11.75;ReadPosRankSum=-1.315;SNPEFF_AMINO_ACID_CHANGE=W208R;SNPEFF_CODON_CHANGE=Tgg/Cgg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_234590584_234591438;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UGT1A7;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000373426 GT:AD:DP:GQ:PL 0/1:90,74:164:99:1957,0,2845
2 234601669 rs6759892 T G 706.48 PASS AB=0.492;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.723;DB;DP=59;Dels=0.0;FS=1.053;HRun=0;HaplotypeScore=0.9832;MQ=60.0;MQ0=0;MQRankSum=0.159;QD=11.97;ReadPosRankSum=0.114;SNPEFF_AMINO_ACID_CHANGE=S7A;SNPEFF_CODON_CHANGE=Tca/Gca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_234601512_234602511;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UGT1A6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000305139 GT:AD:DP:GQ:PL 0/1:29,30:59:99:736,0,1008
2 234601965 rs1105880 A G 593.02 PASS AB=0.394;AC=1;AF=0.50;AN=2;BaseQRankSum=1.382;DB;DP=33;Dels=0.0;FS=1.404;HRun=0;HaplotypeScore=0.9578;MQ=60.0;MQ0=0;MQRankSum=0.759;QD=17.97;ReadPosRankSum=-1.343;SNPEFF_AMINO_ACID_CHANGE=L105;SNPEFF_CODON_CHANGE=ctA/ctG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_234601512_234602511;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UGT1A6;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000305139 GT:AD:DP:GQ:PL 0/1:13,20:33:99:623,0,341
2 234602191 rs2070959 A G 1394.73 PASS AB=0.478;AC=1;AF=0.50;AN=2;BaseQRankSum=4.154;DB;DP=92;Dels=0.0;FS=2.842;HRun=0;HaplotypeScore=0.0;MQ=59.8;MQ0=0;MQRankSum=-0.301;QD=15.16;ReadPosRankSum=-1.442;SNPEFF_AMINO_ACID_CHANGE=T181A;SNPEFF_CODON_CHANGE=Aca/Gca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_234601512_234602511;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UGT1A6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000305139 GT:AD:DP:GQ:PL 0/1:44,48:92:99:1425,0,1173
2 234602202 rs1105879 A C 1293.57 PASS AB=0.506;AC=1;AF=0.50;AN=2;BaseQRankSum=2.291;DB;DP=89;Dels=0.0;FS=1.765;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.246;QD=14.53;ReadPosRankSum=-0.88;SNPEFF_AMINO_ACID_CHANGE=R184S;SNPEFF_CODON_CHANGE=agA/agC;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_234601512_234602511;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UGT1A6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000305139 GT:AD:DP:GQ:PL 0/1:45,44:89:99:1324,0,1310
2 234622429 rs2012734 T C 1778.20 PASS AB=0.519;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.767;DB;DP=154;Dels=0.0;FS=3.176;HRun=0;HaplotypeScore=0.0;MQ=47.66;MQ0=6;MQRankSum=-5.336;QD=11.55;ReadPosRankSum=0.072;SNPEFF_AMINO_ACID_CHANGE=D264;SNPEFF_CODON_CHANGE=gaT/gaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_234621638_234622504;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UGT1A5;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000373414 GT:AD:DP:GQ:PL 0/1:80,74:154:99:1808,0,2084
2 234627608 rs2011425 T G 519.81 PASS AB=0.357;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.51;DB;DP=28;Dels=0.0;FS=1.562;HRun=0;HaplotypeScore=0.0;MQ=57.77;MQ0=0;MQRankSum=0.264;QD=18.56;ReadPosRankSum=-0.072;SNPEFF_AMINO_ACID_CHANGE=L48V;SNPEFF_CODON_CHANGE=Ttg/Gtg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_234627424_234628333;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UGT1A4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000373409 GT:AD:DP:GQ:PL 0/1:10,18:28:99:550,0,323
2 234627937 rs2011404 T C 1697.94 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.386;DB;DP=132;Dels=0.0;FS=4.515;HRun=0;HaplotypeScore=1.8835;MQ=58.87;MQ0=0;MQRankSum=-1.237;QD=12.86;ReadPosRankSum=1.107;SNPEFF_AMINO_ACID_CHANGE=C157;SNPEFF_CODON_CHANGE=tgT/tgC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_234627424_234628333;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UGT1A4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000373409 GT:AD:DP:GQ:PL 0/1:66,66:132:99:1728,0,1922
2 234637707 rs3806596 T C 389.34 PASS AB=0.483;AC=1;AF=0.50;AN=2;BaseQRankSum=0.109;DB;DP=29;Dels=0.0;FS=10.017;HRun=0;HaplotypeScore=0.0;MQ=59.9;MQ0=0;MQRankSum=-0.327;QD=13.43;ReadPosRankSum=-1.2;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UGT1A10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344644 GT:AD:DP:GQ:PL 0/1:14,15:29:99:419,0,497
2 234637803 rs3821242 T C 481.10 PASS AB=0.436;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.025;DB;DP=39;Dels=0.0;FS=4.863;HRun=0;HaplotypeScore=0.9734;MQ=59.26;MQ0=0;MQRankSum=-0.297;QD=12.34;ReadPosRankSum=-0.042;SNPEFF_AMINO_ACID_CHANGE=W11R;SNPEFF_CODON_CHANGE=Tgg/Cgg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_234637754_234638639;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UGT1A3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000482026 GT:AD:DP:GQ:PL 0/1:17,22:39:99:511,0,593
2 234637853 rs6706232 G A 388.65 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.871;DB;DP=30;Dels=0.0;FS=6.107;HRun=1;HaplotypeScore=0.9332;MQ=58.5;MQ0=0;MQRankSum=-0.498;QD=12.95;ReadPosRankSum=0.456;SNPEFF_AMINO_ACID_CHANGE=E27;SNPEFF_CODON_CHANGE=gaG/gaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_234637754_234638639;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UGT1A3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000482026 GT:AD:DP:GQ:PL 0/1:15,15:30:99:419,0,493
2 234637912 rs6431625 T C 522 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=1.573;DB;DP=34;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9789;MQ=59.45;MQ0=0;MQRankSum=-0.199;QD=15.35;ReadPosRankSum=0.163;SNPEFF_AMINO_ACID_CHANGE=V47A;SNPEFF_CODON_CHANGE=gTc/gCc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_234637754_234638639;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UGT1A3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000482026 GT:AD:DP:GQ:PL 0/1:16,18:34:99:552,0,495
2 234638249 rs7574296 A G 1451.88 PASS AB=0.522;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.947;DB;DP=115;Dels=0.0;FS=1.478;HRun=1;HaplotypeScore=0.734;MQ=58.98;MQ0=0;MQRankSum=-0.652;QD=12.63;ReadPosRankSum=-1.922;SNPEFF_AMINO_ACID_CHANGE=A159;SNPEFF_CODON_CHANGE=gcA/gcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_234637754_234638639;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UGT1A3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000482026 GT:AD:DP:GQ:PL 0/1:60,55:115:99:1482,0,1865
2 234638690 rs2361501 A T 462.99 PASS AB=0.586;AC=1;AF=0.50;AN=2;BaseQRankSum=1.034;DB;DP=58;Dels=0.0;FS=1.256;HRun=5;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.15;QD=7.98;ReadPosRankSum=0.403;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UGT1A10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344644 GT:AD:DP:GQ:PL 0/1:34,24:58:99:493,0,1144
2 234656640 rs11888459 T C 1669.69 PASS AB=0.439;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.66;DB;DP=114;Dels=0.0;FS=1.528;HRun=0;HaplotypeScore=0.9967;MQ=57.9;MQ0=0;MQRankSum=-1.29;QD=14.65;ReadPosRankSum=-0.123;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UGT1A10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344644 GT:AD:DP:GQ:PL 0/1:50,64:114:99:1700,0,1536
2 234668879 rs34983651 C CAT 218.80 PASS AB=0.684;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.843;DB;DP=13;FS=0.0;HRun=0;HaplotypeScore=47.7148;IndelType=I;MQ=58.2;MQ0=0;MQRankSum=-0.259;QD=16.83;ReadPosRankSum=0.869;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UGT1A6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000480628 GT:AD:DP:GQ:PL 0/1:7,6:13:99:258,0,185
2 234688036 rs6431631 C A 895.21 PASS AB=0.492;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.615;DB;DP=63;Dels=0.0;FS=1.052;HRun=0;HaplotypeScore=0.9987;MQ=59.63;MQ0=0;MQRankSum=2.26;QD=14.21;ReadPosRankSum=0.941;SNPEFF_AMINO_ACID_CHANGE=A11D;SNPEFF_CODON_CHANGE=gCc/gAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_234687991_234688098;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR7B1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000389758 GT:AD:DP:GQ:PL 0/1:31,32:63:99:925,0,899
2 234698790 rs2361502 T C 2667.70 PASS AB=0.522;AC=1;AF=0.50;AN=2;BaseQRankSum=1.474;DB;DP=180;Dels=0.0;FS=5.555;HRun=0;HaplotypeScore=1.4105;MQ=58.58;MQ0=0;MQRankSum=-0.274;QD=14.82;ReadPosRankSum=1.471;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR7B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389758 GT:AD:DP:GQ:PL 0/1:94,86:180:99:2698,0,2700
2 234698911 rs5839492 ATC A 1310.57 PASS AB=0.683;AC=1;AF=0.50;AN=2;BaseQRankSum=5.912;DB;DP=82;FS=4.363;HRun=0;HaplotypeScore=390.8889;IndelType=D;MQ=55.46;MQ0=0;MQRankSum=-1.48;QD=15.98;ReadPosRankSum=-0.796;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR7B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389758 GT:AD:DP:GQ:PL 0/1:44,38:82:99:1350,0,1493
2 234698930 rs5839493 TTTCC T 760.62 PASS AB=0.805;AC=1;AF=0.50;AN=2;BaseQRankSum=5.05;DB;DP=70;FS=5.143;HRun=0;HaplotypeScore=513.086;IndelType=D;MQ=53.03;MQ0=0;MQRankSum=-3.852;QD=10.87;ReadPosRankSum=1.088;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR7B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389758 GT:AD:DP:GQ:PL 0/1:53,17:70:99:800,0,1525
2 234698976 rs12986677 G A 276.81 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.78;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=52.45;MQ0=0;MQRankSum=-2.237;QD=10.65;ReadPosRankSum=-0.334;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR7B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389758 GT:AD:DP:GQ:PL 0/1:12,14:26:99:307,0,424
2 234704607 rs1076454 C T 436.30 PASS AB=0.483;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.106;DB;DP=29;Dels=0.0;FS=3.891;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.461;QD=15.04;ReadPosRankSum=0.783;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR7B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000480634 GT:AD:DP:GQ:PL 0/1:14,15:29:99:466,0,392
2 234704690 rs759173 T C 1310.50 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.377;MQ=60.0;MQ0=0;QD=30.48;SNPEFF_AMINO_ACID_CHANGE=L379;SNPEFF_CODON_CHANGE=ctT/ctC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_234704613_234704691;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR7B1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000389758 GT:AD:DP:GQ:PL 1/1:0,43:43:99:1344,108,0
2 234704746 rs759172 G C 1227.31 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.09;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR7B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000480634 GT:AD:DP:GQ:PL 1/1:0,36:36:93.30:1260,93,0
2 234707460 rs11563247 G C 68.75 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.221;DB;DP=10;Dels=0.0;FS=3.332;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.322;QD=6.88;ReadPosRankSum=-0.322;SNPEFF_AMINO_ACID_CHANGE=R431;SNPEFF_CODON_CHANGE=cgG/cgC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_234707420_234707496;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR7B1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000389758 GT:AD:DP:GQ:PL 0/1:5,5:10:98.75:99,0,141
2 234708428 rs13013882 G A 346.34 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.87;MQ0=0;QD=31.49;SNPEFF_AMINO_ACID_CHANGE=V444;SNPEFF_CODON_CHANGE=gtG/gtA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_234708426_234708545;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR7B1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000389758 GT:AD:DP:GQ:PL 1/1:0,11:11:30.09:379,30,0
2 234708570 rs11563069 G A 215.50 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.79;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR7B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389758 GT:AD:DP:GQ:PL 1/1:0,7:7:18.06:248,18,0
2 234708629 rs13018934 G A 51.22 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.61;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR7B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389758 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
2 234708720 rs2041652 T G 643.08 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.83;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR7B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389758 GT:AD:DP:GQ:PL 1/1:0,17:17:51.16:676,51,0
2 234712921 rs10175949 G A 667.45 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.13;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR7B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477506 GT:AD:DP:GQ:PL 1/1:0,19:19:51.17:700,51,0
2 234713429 rs6716168 C T 33.68 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=16.84;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR7B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477506 GT:AD:DP:GQ:PL 1/1:0,2:2:6:65,6,0
2 234713681 rs79208193 G T 246.44 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.55;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.567;QD=12.32;ReadPosRankSum=-0.038;SNPEFF_AMINO_ACID_CHANGE=G659V;SNPEFF_CODON_CHANGE=gGg/gTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_234713650_234713757;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR7B1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000389758 GT:AD:DP:GQ:PL 0/1:10,10:20:99:276,0,290
2 234716027 rs112570954 T A 158.94 PASS AB=0.143;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=22.71;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR7B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477506 GT:AD:DP:GQ:PL 0/1:1,6:7:23.70:189,0,24
2 234717448 rs12053445 T G 361.33 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.11;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR7B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389758 GT:AD:DP:GQ:PL 1/1:0,12:12:30.10:394,30,0
2 234717498 rs12053058 G C 257.44 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.74;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR7B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389758 GT:AD:DP:GQ:PL 1/1:0,10:10:21.07:290,21,0
2 234717516 rs12053059 G A 207.55 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.94;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR7B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389758 GT:AD:DP:GQ:PL 1/1:0,8:8:18.05:240,18,0
2 234717669 rs10803663 A G 149.43 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.89;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR7B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389758 GT:AD:DP:GQ:PL 1/1:0,5:5:15.04:182,15,0
2 234718864 rs17863814 G A 58.12 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.239;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.05;MQ0=0;MQRankSum=-1.134;QD=4.84;ReadPosRankSum=1.239;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR7B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389758 GT:AD:DP:GQ:PL 0/1:8,4:12:88.11:88,0,260
2 234725502 rs726016 T C 809.19 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.07;MQ0=0;QD=32.37;SNPEFF_AMINO_ACID_CHANGE=W978R;SNPEFF_CODON_CHANGE=Tgg/Cgg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_234725427_234725531;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR7B1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000389758 GT:AD:DP:GQ:PL 1/1:0,25:25:63.20:842,63,0
2 234726616 rs6756004 A T 282.62 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.373;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.5;MQ0=0;MQRankSum=-0.695;QD=10.09;ReadPosRankSum=-1.127;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR7B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389758 GT:AD:DP:GQ:PL 0/1:18,10:28:99:313,0,612
2 234727250 rs719419 T G 34.49 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.054;DB;DP=9;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.248;QD=3.83;ReadPosRankSum=1.203;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR7B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389758 GT:AD:DP:GQ:PL 0/1:6,3:9:64.48:64,0,208
2 234728078 rs1500480 T C 162.33 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.05;SNPEFF_AMINO_ACID_CHANGE=F1107S;SNPEFF_CODON_CHANGE=tTc/tCc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_234727963_234728115;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR7B1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000389758 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:195,15,0
2 234730807 rs6734083 G A 122.04 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.181;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.05;MQ0=0;MQRankSum=0.143;QD=10.17;ReadPosRankSum=0.466;SNPEFF_AMINO_ACID_CHANGE=V1184M;SNPEFF_CODON_CHANGE=Gtg/Atg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_234730770_234730929;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR7B1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000389758 GT:AD:DP:GQ:PL 0/1:6,6:12:99:152,0,126
2 234737045 rs626293 C T 130.18 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.92;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.05;MQ0=0;MQRankSum=-1.92;QD=16.27;ReadPosRankSum=-0.322;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR7B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389758 GT:AD:DP:GQ:PL 0/1:3,5:8:99:160,0,102
2 234737372 rs7564261 C A 211.93 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=1.134;DB;DP=12;Dels=0.0;FS=8.195;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.135;QD=17.66;ReadPosRankSum=0.529;SNPEFF_AMINO_ACID_CHANGE=R1406;SNPEFF_CODON_CHANGE=Cgg/Agg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_234737276_234737425;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR7B1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000389758 GT:AD:DP:GQ:PL 0/1:5,7:12:99:242,0,152
2 234738175 rs502059 A G 239.92 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.99;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR7B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389758 GT:AD:DP:GQ:PL 1/1:0,8:8:21.07:273,21,0
2 234738472 rs582432 G A 294.31 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.79;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR7B1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389758 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:327,24,0
2 234740136 rs879665 G A 81.10 PASS AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=13.52;ReadPosRankSum=-0.736;SNPEFF_AMINO_ACID_CHANGE=A1564T;SNPEFF_CODON_CHANGE=Gct/Act;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_234740055_234740186;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR7B1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000389758 GT:AD:DP:GQ:PL 0/1:1,5:6:29.72:111,0,30
2 234740157 rs879664 G A 64.66 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=16.17;ReadPosRankSum=0.727;SNPEFF_AMINO_ACID_CHANGE=V1571I;SNPEFF_CODON_CHANGE=Gtt/Att;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_234740055_234740186;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEATR7B1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000389758 GT:AD:DP:GQ:PL 0/1:1,3:4:30.21:95,0,30
2 234740758 rs213547 A G 1124.08 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.734;MQ=41.35;MQ0=0;QD=33.06;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=HJURP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000411486 GT:AD:DP:GQ:PL 1/1:0,34:34:99:1157,99,0
2 234740797 rs3064782 C CAAAA 3561.69 PASS AC=2;AF=1.00;AN=2;DB;DP=45;FS=0.0;HRun=0;HaplotypeScore=361.3572;IndelType=I;MQ=43.03;MQ0=0;QD=79.15;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=HJURP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000411486 GT:AD:DP:GQ:PL 1/1:0,41:45:99:3562,132,0
2 234740798 rs59475663 T A 83.04 QDFilter2 AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=43.03;MQ0=0;QD=1.85;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=HJURP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000411486 GT:AD:DP:GQ:PL 1/1:0,45:45:9.03:115,9,0
2 234741022 rs122856 T C 1078.10 HaplotypeScoreFilter13 AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=26.9517;MQ=57.58;MQ0=0;QD=34.78;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=HJURP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000411486 GT:AD:DP:GQ:PL 1/1:0,31:31:93.25:1111,93,0
2 234741028 rs5839496 A AG 1302.14 PASS AC=2;AF=1.00;AN=2;DB;DP=28;FS=0.0;HRun=0;HaplotypeScore=274.8827;IndelType=I;MQ=58.17;MQ0=0;QD=46.51;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=HJURP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000411486 GT:AD:DP:GQ:PL 1/1:0,28:28:84.29:1344,84,0
2 234749151 rs213555 C T 965.05 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.74;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=HJURP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373395 GT:AD:DP:GQ:PL 1/1:0,27:27:78.22:998,78,0
2 234749258 rs10511 T C 1010.71 PASS AB=0.519;AC=1;AF=0.50;AN=2;BaseQRankSum=1.267;DB;DP=81;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.7608;MQ=59.48;MQ0=0;MQRankSum=-0.843;QD=12.48;ReadPosRankSum=-1.325;SNPEFF_AMINO_ACID_CHANGE=E638G;SNPEFF_CODON_CHANGE=gAg/gGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_234749255_234750851;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=HJURP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000441687 GT:AD:DP:GQ:PL 0/1:42,39:81:99:1041,0,1258
2 234749354 rs12582 G A 956.15 PASS AB=0.475;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.072;DB;DP=59;Dels=0.0;FS=1.008;HRun=1;HaplotypeScore=0.0;MQ=59.61;MQ0=0;MQRankSum=2.74;QD=16.21;ReadPosRankSum=-0.615;SNPEFF_AMINO_ACID_CHANGE=S606F;SNPEFF_CODON_CHANGE=tCc/tTc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_234749255_234750851;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=HJURP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000441687 GT:AD:DP:GQ:PL 0/1:28,31:59:99:986,0,911
2 234749780 rs3821238 G C 876.23 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.406;DB;DP=50;Dels=0.0;FS=4.415;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.861;QD=17.52;ReadPosRankSum=0.723;SNPEFF_AMINO_ACID_CHANGE=S464C;SNPEFF_CODON_CHANGE=tCt/tGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_234749461_234750851;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=HJURP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000414924 GT:AD:DP:GQ:PL 0/1:20,30:50:99:906,0,594
2 234750542 rs3732215 G C 259.87 PASS AB=0.676;AC=1;AF=0.50;AN=2;BaseQRankSum=1.508;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9958;MQ=59.32;MQ0=0;MQRankSum=1.318;QD=7.64;ReadPosRankSum=0.401;SNPEFF_AMINO_ACID_CHANGE=S210C;SNPEFF_CODON_CHANGE=tCc/tGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_234749461_234750851;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=HJURP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000414924 GT:AD:DP:GQ:PL 0/1:23,11:34:99:290,0,689
2 234750831 rs3806589 T C 324.61 PASS AB=0.45;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.096;DB;DP=20;Dels=0.0;FS=4.964;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.454;QD=16.23;ReadPosRankSum=0.206;SNPEFF_AMINO_ACID_CHANGE=R114G;SNPEFF_CODON_CHANGE=Aga/Gga;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_234749461_234750851;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=HJURP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000414924 GT:AD:DP:GQ:PL 0/1:9,11:20:99:355,0,242
2 234753008 rs169925 G A 652.71 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.35;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=HJURP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000411486 GT:AD:DP:GQ:PL 1/1:0,19:19:51.17:686,51,0
2 234754273 rs2302156 T C 290.38 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=HJURP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000411486 GT:AD:DP:GQ:PL 1/1:0,9:9:24.07:323,24,0
2 234754506 rs2302155 G A 522.48 PASS AB=0.654;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.359;DB;DP=52;Dels=0.0;FS=1.553;HRun=1;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=0.758;QD=10.05;ReadPosRankSum=-0.532;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=HJURP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000411486 GT:AD:DP:GQ:PL 0/1:34,18:52:99:552,0,1132
2 234761225 rs2286430 C T 433.50 PASS AB=0.595;AC=1;AF=0.50;AN=2;BaseQRankSum=0.887;DB;DP=42;Dels=0.0;FS=4.987;HRun=2;HaplotypeScore=0.9578;MQ=59.45;MQ0=0;MQRankSum=0.251;QD=10.32;ReadPosRankSum=-0.569;SNPEFF_AMINO_ACID_CHANGE=E76K;SNPEFF_CODON_CHANGE=Gaa/Aaa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_234761211_234761266;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=HJURP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000411486 GT:AD:DP:GQ:PL 0/1:25,17:42:99:463,0,742
2 234761355 rs554699 G A 602.65 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9665;MQ=60.0;MQ0=0;QD=35.45;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=HJURP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000411486 GT:AD:DP:GQ:PL 1/1:0,17:17:48.16:636,48,0
2 234762272 rs473504 C A 67.22 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.322;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.956;QD=8.4;ReadPosRankSum=-0.322;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=HJURP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000411486 GT:AD:DP:GQ:PL 0/1:5,3:8:97.22:97,0,183
2 234762480 rs626110 A T 2096.99 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.6;MQ0=0;QD=36.16;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=HJURP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000411486 GT:AD:DP:GQ:PL 1/1:0,58:58:99:2130,162,0
2 234762898 rs501145 C T 88.62 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.54;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=HJURP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000411486 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:121,9,0
2 234846198 rs1019103 G A 1713.34 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;QD=34.27;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRPM8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479332 GT:AD:DP:GQ:PL 1/1:0,50:50:99:1746,138,0
2 234846401 rs12470426 G A 37.19 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.16;MQ0=0;MQRankSum=1.026;QD=9.3;ReadPosRankSum=-1.026;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRPM8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479332 GT:AD:DP:GQ:PL 0/1:2,2:4:64.95:67,0,65
2 234847573 rs9646720 A G 339.30 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=0.89;DB;DP=22;Dels=0.0;FS=7.104;HRun=3;HaplotypeScore=0.0;MQ=58.95;MQ0=0;MQRankSum=0.824;QD=15.42;ReadPosRankSum=-0.231;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRPM8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479332 GT:AD:DP:GQ:PL 0/1:10,12:22:99:369,0,323
2 234847823 rs2302153 A C 358.16 PASS AB=0.409;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.401;DB;DP=24;Dels=0.0;FS=4.123;HRun=0;HaplotypeScore=1.9987;MQ=59.22;MQ0=0;MQRankSum=0.334;QD=14.92;ReadPosRankSum=-0.2;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRPM8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479332 GT:AD:DP:GQ:PL 0/1:9,13:24:99:388,0,250
2 234873221 . AG A 308.57 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=3.571;DP=32;FS=14.78;HRun=1;HaplotypeScore=277.9893;IndelType=D;MQ=43.77;MQ0=0;MQRankSum=-3.015;QD=9.64;ReadPosRankSum=3.571;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRPM8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000487033 GT:AD:DP:GQ:PL 0/1:16,16:32:99:348,0,225
2 234888721 rs6736916 C T 50.05 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.02;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRPM8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000324695 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
2 234890391 rs6708995 G T 1744.83 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.51;MQ0=0;QD=37.12;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRPM8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000324695 GT:AD:DP:GQ:PL 1/1:0,46:46:99:1778,132,0
2 234890793 rs4663993 C T 49.30 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.65;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRPM8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000324695 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
2 234916831 rs6734618 A G 730.57 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=1.154;DB;DP=45;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.366;MQ=56.41;MQ0=0;MQRankSum=-0.857;QD=16.23;ReadPosRankSum=0.286;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRPM8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000324695 GT:AD:DP:GQ:PL 0/1:20,25:45:99:761,0,637
2 234923362 rs28948677 G A 32.60 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=56.04;MQ0=0;MQRankSum=0.0;QD=5.43;ReadPosRankSum=-0.72;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRPM8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466594 GT:AD:DP:GQ:PL 0/1:4,2:6:62.59:63,0,144
2 234967539 rs593668 T A 1668.51 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.27;SNPEFF_AMINO_ACID_CHANGE=T10;SNPEFF_CODON_CHANGE=acT/acA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_234967480_234967602;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPP2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000425558 GT:AD:DP:GQ:PL 1/1:0,46:46:99:1702,123,0
2 236403607 rs3738998 C A 119.46 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.922;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.198;QD=17.07;ReadPosRankSum=0.198;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGAP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304032 GT:AD:DP:GQ:PL 0/1:2,5:7:58.91:149,0,59
2 236433161 rs62191529 G A 92.28 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.421;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9996;MQ=57.63;MQ0=0;MQRankSum=-0.922;QD=11.54;ReadPosRankSum=-2.017;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGAP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304032 GT:AD:DP:GQ:PL 0/1:4,4:8:99:122,0,125
2 236433331 rs11689907 T C 74.55 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.85;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGAP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304032 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:107,9,0
2 236617736 rs3754669 C T 487.73 PASS AB=0.419;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.135;DB;DP=31;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.5449;MQ=59.25;MQ0=0;MQRankSum=-0.022;QD=15.73;ReadPosRankSum=-0.548;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGAP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304032 GT:AD:DP:GQ:PL 0/1:13,18:31:99:518,0,462
2 236672964 rs2675137 T G 546.39 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGAP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304032 GT:AD:DP:GQ:PL 1/1:0,17:17:45.14:579,45,0
2 236716006 rs8178996 T A 551.91 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.218;DB;DP=36;Dels=0.0;FS=4.715;HRun=0;HaplotypeScore=0.7887;MQ=59.36;MQ0=0;MQRankSum=0.649;QD=15.33;ReadPosRankSum=0.459;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGAP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304032 GT:AD:DP:GQ:PL 0/1:18,18:36:99:582,0,486
2 236761396 rs13006916 C T 742.31 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.74;SNPEFF_AMINO_ACID_CHANGE=R373C;SNPEFF_CODON_CHANGE=Cgt/Tgt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_236761330_236761846;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGAP1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000409457 GT:AD:DP:GQ:PL 1/1:0,22:22:57.19:775,57,0
2 236817336 rs35066072 CT C 155.51 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.637;DB;DP=28;FS=0.0;HRun=14;HaplotypeScore=106.2643;IndelType=D;MQ=59.56;MQ0=0;MQRankSum=1.97;QD=5.55;ReadPosRankSum=-0.579;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGAP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304032 GT:AD:DP:GQ:PL 0/1:14,14:28:99:195,0,234
2 236817629 rs4663215 C T 430.77 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.9;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGAP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304032 GT:AD:DP:GQ:PL 1/1:0,12:12:36.12:464,36,0
2 236839731 rs35953119 G A 82.61 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=20.65;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGAP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304032 GT:AD:DP:GQ:PL 0/1:1,3:4:27.27:113,0,27
2 236923361 rs35361765 C CT 170.48 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.747;DB;DP=8;FS=0.0;HRun=9;HaplotypeScore=15.3037;IndelType=I;MQ=60.0;MQ0=0;MQRankSum=-0.747;QD=21.31;ReadPosRankSum=-0.747;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGAP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000304032 GT:AD:DP:GQ:PL 0/1:1,7:8:1.99:208,0,2
2 236957822 rs2034648 G A 1122.26 PASS AB=0.519;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.851;DB;DP=77;Dels=0.0;FS=6.632;HRun=1;HaplotypeScore=0.9832;MQ=60.0;MQ0=0;MQRankSum=0.26;QD=14.57;ReadPosRankSum=1.208;SNPEFF_AMINO_ACID_CHANGE=V510I;SNPEFF_CODON_CHANGE=Gtc/Atc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_236957703_236957925;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGAP1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000428334 GT:AD:DP:GQ:PL 0/1:40,37:77:99:1152,0,1207
2 237029163 rs13021559 G A 357.13 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.92;DB;DP=18;Dels=0.0;FS=2.762;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.077;QD=19.84;ReadPosRankSum=-1.452;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGAP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466575 GT:AD:DP:GQ:PL 0/1:6,12:18:99:387,0,198
2 237149941 rs6756597 C T 4663.86 PASS AC=2;AF=1.00;AN=2;DB;DP=139;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.2434;MQ=59.53;MQ0=0;QD=33.55;SNPEFF_AMINO_ACID_CHANGE=A104T;SNPEFF_CODON_CHANGE=Gcc/Acc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_237149923_237150045;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASB18;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000409749 GT:AD:DP:GQ:PL 1/1:0,139:139:99:4664,346,0
2 237150166 rs2015983 A C 2422 PASS AC=2;AF=1.00;AN=2;DB;DP=74;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7046;MQ=59.69;MQ0=0;QD=32.73;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASB18;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409749 GT:AD:DP:GQ:PL 1/1:0,74:74:99:2455,196,0
2 237300677 rs10204742 T C 1923.04 PASS AB=0.541;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.862;DB;DP=170;Dels=0.0;FS=1.935;HRun=1;HaplotypeScore=0.7887;MQ=59.64;MQ0=0;MQRankSum=-1.25;QD=11.31;ReadPosRankSum=1.026;SNPEFF_AMINO_ACID_CHANGE=K411R;SNPEFF_CODON_CHANGE=aAg/aGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_237300619_237300714;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=IQCA1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000431676 GT:AD:DP:GQ:PL 0/1:92,78:170:99:1953,0,2695
2 237301071 rs1384580 G A 137.44 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=0.922;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.922;QD=19.63;ReadPosRankSum=1.495;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=IQCA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309507 GT:AD:DP:GQ:PL 0/1:2,5:7:57.97:167,0,58
2 237307967 rs6719078 G A 606.08 PASS AB=0.387;AC=1;AF=0.50;AN=2;BaseQRankSum=3.747;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.25;MQ0=0;MQRankSum=0.445;QD=19.55;ReadPosRankSum=0.826;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=IQCA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309507 GT:AD:DP:GQ:PL 0/1:12,19:31:99:636,0,315
2 237308387 rs6748813 C T 48.77 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=16.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=IQCA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309507 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:80,6,0
2 237396935 rs6751722 G A 207.23 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.663;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.545;QD=14.8;ReadPosRankSum=-1.027;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=IQCA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309507 GT:AD:DP:GQ:PL 0/1:7,7:14:99:237,0,246
2 237489904 rs1045879 C T 1073.37 PASS AB=0.488;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.834;DB;DP=82;Dels=0.0;FS=1.814;HRun=1;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=0.032;QD=13.09;ReadPosRankSum=0.496;SNPEFF_AMINO_ACID_CHANGE=L266;SNPEFF_CODON_CHANGE=Ctg/Ttg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_237489083_237491001;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CXCR7;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000272928 GT:AD:DP:GQ:PL 0/1:40,42:82:99:1103,0,1163
2 238166147 rs4377288 G A 381.98 PASS AB=0.318;AC=1;AF=0.50;AN=2;BaseQRankSum=1.692;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.775;QD=17.36;ReadPosRankSum=-1.198;SNPEFF_EFFECT=INTRAGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC112715.2;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 0/1:7,15:22:99:412,0,180
2 238233410 rs4663722 C G 389.73 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=0.026;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=60.0;MQ0=0;MQRankSum=1.723;QD=14.99;ReadPosRankSum=0.077;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=COL6A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000346358 GT:AD:DP:GQ:PL 0/1:12,14:26:99:420,0,318
2 238243369 rs10201909 G A 616.79 PASS AB=0.51;AC=1;AF=0.50;AN=2;BaseQRankSum=1.13;DB;DP=49;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.53;MQ0=0;MQRankSum=-2.65;QD=12.59;ReadPosRankSum=-0.25;SNPEFF_AMINO_ACID_CHANGE=R2436;SNPEFF_CODON_CHANGE=cgC/cgT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_238243269_238243532;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=COL6A3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000472056 GT:AD:DP:GQ:PL 0/1:25,24:49:99:647,0,799
2 238243464 rs2270669 C G 1827.99 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.505;DB;DP=63;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.9158;MQ=59.19;MQ0=0;MQRankSum=-1.505;QD=29.02;ReadPosRankSum=-0.88;SNPEFF_AMINO_ACID_CHANGE=A2405P;SNPEFF_CODON_CHANGE=Gct/Cct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_238243269_238243532;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=COL6A3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000472056 GT:AD:DP:GQ:PL 1/1:1,62:63:99:1861,111,0
2 238243656 rs11681749 C T 186.65 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=2.228;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7621;MQ=57.44;MQ0=0;MQRankSum=-1.034;QD=16.97;ReadPosRankSum=-0.896;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=COL6A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468792 GT:AD:DP:GQ:PL 0/1:4,7:11:99:217,0,105
2 238244575 rs4233631 T C 35.09 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.55;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=COL6A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468792 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:66,6,0
2 238244781 rs11690358 T C 154.98 PASS AB=0.731;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.445;DB;DP=26;Dels=0.0;FS=4.685;HRun=0;HaplotypeScore=0.0;MQ=59.11;MQ0=0;MQRankSum=0.405;QD=5.96;ReadPosRankSum=-0.173;SNPEFF_AMINO_ACID_CHANGE=M2381V;SNPEFF_CODON_CHANGE=Atg/Gtg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_238244778_238245175;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=COL6A3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000472056 GT:AD:DP:GQ:PL 0/1:19,7:26:99:185,0,625
2 238244863 rs35879189 TGCA T 361.86 PASS AB=0.756;AC=1;AF=0.50;AN=2;BaseQRankSum=3.849;DB;DP=34;FS=0.0;HRun=0;HaplotypeScore=150.2452;IndelType=D;MQ=57.94;MQ0=0;MQRankSum=-1.071;QD=10.64;ReadPosRankSum=1.389;SNPEFF_AMINO_ACID_CHANGE=AA2352A;SNPEFF_CODON_CHANGE=gctgca/gca;SNPEFF_EFFECT=CODON_CHANGE_PLUS_CODON_DELETION;SNPEFF_EXON_ID=exon_2_238244778_238245175;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=COL6A3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000472056 GT:AD:DP:GQ:PL 0/1:23,11:34:99:401,0,1232
2 238244923 rs11683438 C T 574.20 PASS AB=0.627;AC=1;AF=0.50;AN=2;BaseQRankSum=2.358;DB;DP=67;Dels=0.0;FS=11.746;HRun=0;HaplotypeScore=0.8321;MQ=55.36;MQ0=0;MQRankSum=0.401;QD=8.57;ReadPosRankSum=1.393;SNPEFF_AMINO_ACID_CHANGE=T2333;SNPEFF_CODON_CHANGE=acG/acA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_238244778_238245175;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=COL6A3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000472056 GT:AD:DP:GQ:PL 0/1:42,25:67:99:604,0,1165
2 238244963 rs6728818 A G 2639.67 PASS AC=2;AF=1.00;AN=2;DB;DP=84;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=53.33;MQ0=0;QD=31.42;SNPEFF_AMINO_ACID_CHANGE=M2320T;SNPEFF_CODON_CHANGE=aTg/aCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_238244778_238245175;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=COL6A3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000472056 GT:AD:DP:GQ:PL 1/1:0,84:84:99:2673,223,0
2 238249108 rs61729844 T C 405.21 PASS AB=0.529;AC=1;AF=0.50;AN=2;BaseQRankSum=0.19;DB;DP=34;Dels=0.0;FS=1.447;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.052;QD=11.92;ReadPosRankSum=-0.535;SNPEFF_AMINO_ACID_CHANGE=P2210;SNPEFF_CODON_CHANGE=ccA/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_238249095_238249793;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=COL6A3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000472056 GT:AD:DP:GQ:PL 0/1:18,16:34:99:435,0,606
2 238249717 rs34558385 G A 1107.63 PASS AB=0.505;AC=1;AF=0.50;AN=2;BaseQRankSum=2.534;DB;DP=119;Dels=0.0;FS=2.09;HRun=0;HaplotypeScore=1.7753;MQ=58.2;MQ0=0;MQRankSum=1.18;QD=9.31;ReadPosRankSum=0.294;SNPEFF_AMINO_ACID_CHANGE=S2007;SNPEFF_CODON_CHANGE=agC/agT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_238249095_238249793;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=COL6A3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000472056 GT:AD:DP:GQ:PL 0/1:55,54:119:99:1138,0,1079
2 238253332 rs10084221 G A 897.60 PASS AB=0.456;AC=1;AF=0.50;AN=2;BaseQRankSum=0.248;DB;DP=57;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.008;QD=15.75;ReadPosRankSum=0.264;SNPEFF_AMINO_ACID_CHANGE=A1836;SNPEFF_CODON_CHANGE=gcC/gcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_238252993_238253486;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=COL6A3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000472056 GT:AD:DP:GQ:PL 0/1:26,31:57:99:928,0,770
2 238253518 rs6725567 C T 450.16 PASS AB=0.516;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.747;DB;DP=31;Dels=0.0;FS=1.451;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.059;QD=14.52;ReadPosRankSum=-1.285;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=COL6A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295550 GT:AD:DP:GQ:PL 0/1:16,15:31:99:480,0,522
2 238255120 rs2270656 C T 953.13 PASS AB=0.346;AC=1;AF=0.50;AN=2;BaseQRankSum=3.027;DB;DP=52;Dels=0.0;FS=4.288;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=1.349;QD=18.33;ReadPosRankSum=1.089;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=COL6A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295550 GT:AD:DP:GQ:PL 0/1:18,34:52:99:983,0,433
2 238255285 rs6761147 G A 255.74 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.6;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.134;QD=21.31;ReadPosRankSum=0.6;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=COL6A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295550 GT:AD:DP:GQ:PL 0/1:4,8:12:99:286,0,131
2 238256825 rs13402341 G A 209.59 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.225;DB;DP=14;Dels=0.0;FS=3.68;HRun=1;HaplotypeScore=0.0;MQ=49.17;MQ0=0;MQRankSum=-2.177;QD=14.97;ReadPosRankSum=0.471;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=COL6A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295550 GT:AD:DP:GQ:PL 0/1:6,8:14:99:240,0,197
2 238256885 rs71905592 AGT A 823.81 PASS AB=0.632;AC=1;AF=0.50;AN=2;BaseQRankSum=4.82;DB;DP=36;FS=0.0;HRun=0;HaplotypeScore=218.6944;IndelType=D;MQ=44.62;MQ0=0;MQRankSum=-4.607;QD=22.88;ReadPosRankSum=1.63;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=COL6A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295550 GT:AD:DP:GQ:PL 0/1:15,20:36:99:863,0,633
2 238256906 . G GA 1192.90 PASS AB=0.65;AC=1;AF=0.50;AN=2;BaseQRankSum=2.241;DP=52;FS=0.0;HRun=0;HaplotypeScore=222.4363;IndelType=I;MQ=49.58;MQ0=0;MQRankSum=-4.698;QD=22.94;ReadPosRankSum=0.845;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=COL6A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295550 GT:AD:DP:GQ:PL 0/1:24,28:52:99:1232,0,724
2 238257127 rs3790990 C A 286.69 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=3.744;DB;DP=25;Dels=0.0;FS=5.738;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.305;QD=11.47;ReadPosRankSum=-1.969;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=COL6A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295550 GT:AD:DP:GQ:PL 0/1:15,10:25:99:317,0,468
2 238257353 rs2646263 A G 214.03 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.884;DB;DP=15;Dels=0.0;FS=2.963;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=-0.766;QD=14.27;ReadPosRankSum=-0.648;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=COL6A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295550 GT:AD:DP:GQ:PL 0/1:6,9:15:99:244,0,164
2 238262021 rs36117715 G A 208.92 PASS AB=0.611;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=18;Dels=0.0;FS=2.772;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=-0.362;QD=11.61;ReadPosRankSum=-1.449;SNPEFF_AMINO_ACID_CHANGE=P1611L;SNPEFF_CODON_CHANGE=cCg/cTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_238261984_238262046;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=COL6A3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000472056 GT:AD:DP:GQ:PL 0/1:11,7:18:99:239,0,400
2 238265684 rs10929228 C T 36.84 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.231;QD=7.37;ReadPosRankSum=-0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=COL6A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295550 GT:AD:DP:GQ:PL 0/1:3,2:5:66.83:67,0,110
2 238270378 rs111228504 G A 690.99 PASS AB=0.519;AC=1;AF=0.50;AN=2;BaseQRankSum=4.511;DB;DP=54;Dels=0.0;FS=6.035;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.375;QD=12.8;ReadPosRankSum=-1.437;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=COL6A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295550 GT:AD:DP:GQ:PL 0/1:28,26:54:99:721,0,721
2 238271786 rs11287247 GC G 1282.25 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.412;DB;DP=57;FS=0.0;HRun=10;HaplotypeScore=173.8005;IndelType=D;MQ=60.36;MQ0=0;MQRankSum=0.77;QD=22.5;ReadPosRankSum=0.385;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=COL6A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295550 GT:AD:DP:GQ:PL 1/1:2,54:57:99:1324,128,0
2 238275232 rs75148159 G A 426.82 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.425;DB;DP=24;Dels=0.0;FS=2.993;HRun=0;HaplotypeScore=0.0;MQ=59.03;MQ0=0;MQRankSum=0.535;QD=17.78;ReadPosRankSum=0.283;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=COL6A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295550 GT:AD:DP:GQ:PL 0/1:10,14:24:99:457,0,299
2 238462324 rs8260 A G 1038.94 PASS AB=0.492;AC=1;AF=0.50;AN=2;BaseQRankSum=0.759;DB;DP=65;Dels=0.0;FS=3.442;HRun=0;HaplotypeScore=0.0;MQ=58.93;MQ0=0;MQRankSum=-0.235;QD=15.98;ReadPosRankSum=-0.181;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MLPH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000445024 GT:AD:DP:GQ:PL 0/1:32,33:65:99:1069,0,879
2 238483164 rs6766 T C 598.84 PASS AB=0.378;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.417;DB;DP=37;Dels=0.0;FS=3.185;HRun=0;HaplotypeScore=1.9722;MQ=58.11;MQ0=0;MQRankSum=0.427;QD=16.18;ReadPosRankSum=-0.017;SNPEFF_AMINO_ACID_CHANGE=P25;SNPEFF_CODON_CHANGE=ccA/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_238482970_238483229;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=RAB17;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000409576 GT:AD:DP:GQ:PL 0/1:14,23:37:99:629,0,381
2 238483331 rs8184 G C 73.58 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=1.3;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.55;QD=10.51;ReadPosRankSum=1.3;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=RAB17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409822 GT:AD:DP:GQ:PL 0/1:4,3:7:99:104,0,138
2 238483654 rs72990107 G A 284.17 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.133;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.133;QD=18.94;ReadPosRankSum=1.067;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=RAB17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000411462 GT:AD:DP:GQ:PL 0/1:6,9:15:99:314,0,153
2 238483671 rs59945834 G A 298.26 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=1.828;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.261;QD=14.2;ReadPosRankSum=0.858;SNPEFF_AMINO_ACID_CHANGE=C210;SNPEFF_CODON_CHANGE=tgC/tgT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_238482965_238483771;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=RAB17;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000264601 GT:AD:DP:GQ:PL 0/1:7,14:21:99:328,0,182
2 238483729 rs2280289 A G 429.47 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.747;DB;DP=34;Dels=0.0;FS=1.4;HRun=1;HaplotypeScore=0.9998;MQ=58.63;MQ0=0;MQRankSum=-0.27;QD=12.63;ReadPosRankSum=-0.09;SNPEFF_AMINO_ACID_CHANGE=L191P;SNPEFF_CODON_CHANGE=cTa/cCa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_238482965_238483771;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=RAB17;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000264601 GT:AD:DP:GQ:PL 0/1:17,17:34:99:459,0,433
2 238483874 rs111491353 C A 139.47 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.47;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.676;QD=13.95;ReadPosRankSum=-0.47;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=RAB17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000411462 GT:AD:DP:GQ:PL 0/1:5,5:10:99:169,0,168
2 238484222 rs10202062 G A 81.02 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.21;MQ0=0;MQRankSum=-0.731;QD=16.2;ReadPosRankSum=0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=RAB17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264601 GT:AD:DP:GQ:PL 0/1:1,4:5:29.72:111,0,30
2 238485251 rs72990117 G A 239.65 PASS AB=0.698;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.05;DB;DP=43;Dels=0.0;FS=3.119;HRun=0;HaplotypeScore=0.0;MQ=59.46;MQ0=0;MQRankSum=0.441;QD=5.57;ReadPosRankSum=0.502;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=RAB17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264601 GT:AD:DP:GQ:PL 0/1:30,13:43:99:270,0,857
2 238485713 rs12478282 G A 151.62 PASS AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=25.27;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=RAB17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264601 GT:AD:DP:GQ:PL 0/1:1,5:6:17.19:182,0,17
2 238486850 rs188449398 C T 107.57 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.271;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=-1.03;QD=5.98;ReadPosRankSum=1.898;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=RAB17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264601 GT:AD:DP:GQ:PL 0/1:12,6:18:99:138,0,312
2 238494319 rs10195011 C T 42.20 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.1;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=RAB17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000487008 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:73,6,0
2 238494448 rs3829285 T C 40.20 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=13.4;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=RAB17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000487008 GT:AD:DP:GQ:PL 0/1:1,2:3:30.98:70,0,31
2 238494742 rs3751112 A G 429.67 PASS AB=0.548;AC=1;AF=0.50;AN=2;BaseQRankSum=0.076;DB;DP=42;Dels=0.0;FS=2.925;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.91;QD=10.23;ReadPosRankSum=-1.188;SNPEFF_AMINO_ACID_CHANGE=V19A;SNPEFF_CODON_CHANGE=gTg/gCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_238494641_238494800;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=RAB17;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000264601 GT:AD:DP:GQ:PL 0/1:23,19:42:99:460,0,625
2 238500617 rs114637219 G A 238.05 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.529;DB;DP=17;Dels=0.0;FS=2.392;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.203;QD=14.0;ReadPosRankSum=-0.048;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=RAB17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000487008 GT:AD:DP:GQ:PL 0/1:8,9:17:99:268,0,210
2 238500642 rs10084167 A G 72.45 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=1.307;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.361;QD=8.05;ReadPosRankSum=-1.159;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=RAB17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000487008 GT:AD:DP:GQ:PL 0/1:5,4:9:99:102,0,170
2 238503561 rs75477617 C A 36.83 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.72;QD=6.14;ReadPosRankSum=1.38;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=RAB17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000487008 GT:AD:DP:GQ:PL 0/1:4,2:6:66.83:67,0,112
2 238632377 rs3769085 A C 498.26 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.71;MQ0=0;QD=27.68;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRFIP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465870 GT:AD:DP:GQ:PL 1/1:0,18:18:45.13:531,45,0
2 238636409 rs11686648 G C 669.67 PASS AB=0.276;AC=1;AF=0.50;AN=2;BaseQRankSum=3.343;DB;DP=29;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9332;MQ=60.0;MQ0=0;MQRankSum=1.592;QD=23.09;ReadPosRankSum=-0.849;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRFIP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000244815 GT:AD:DP:GQ:PL 0/1:8,21:29:99:700,0,143
2 238644136 rs3820810 A G 117.49 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.731;QD=23.5;ReadPosRankSum=-0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRFIP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000244815 GT:AD:DP:GQ:PL 0/1:1,4:5:27.18:147,0,27
2 238656936 rs2304431 A G 230.46 PASS AB=0.633;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.83;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.23;MQ0=0;MQRankSum=-0.775;QD=7.68;ReadPosRankSum=-0.603;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRFIP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000244815 GT:AD:DP:GQ:PL 0/1:19,11:30:99:260,0,673
2 238657142 rs11692182 C T 125.78 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.378;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.779;QD=10.48;ReadPosRankSum=-0.583;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRFIP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000244815 GT:AD:DP:GQ:PL 0/1:6,6:12:99:156,0,183
2 238659708 rs3769062 C T 156.98 PASS AB=0.385;AC=1;AF=0.50;AN=2;BaseQRankSum=0.212;DB;DP=13;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.817;QD=12.08;ReadPosRankSum=0.533;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRFIP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420665 GT:AD:DP:GQ:PL 0/1:5,8:13:99:187,0,172
2 238659963 rs3835808 TAA T 354.51 PASS AB=0.719;AC=1;AF=0.50;AN=2;BaseQRankSum=3.326;DB;DP=41;FS=0.0;HRun=11;HaplotypeScore=171.3823;IndelType=D;MQ=59.44;MQ0=0;MQRankSum=-1.328;QD=8.65;ReadPosRankSum=1.299;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRFIP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420665 GT:AD:DP:GQ:PL 0/1:25,16:41:99:394,0,940
2 238660063 rs77180638 A G 185.75 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=2.074;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.555;QD=14.29;ReadPosRankSum=0.101;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRFIP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420665 GT:AD:DP:GQ:PL 0/1:6,7:13:99:216,0,203
2 238661832 rs733579 T C 144.84 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.148;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.69;MQ0=0;MQRankSum=0.103;QD=14.48;ReadPosRankSum=1.098;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRFIP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420665 GT:AD:DP:GQ:PL 0/1:5,5:10:99:175,0,167
2 238661870 rs3832061 GT G 253.02 PASS AB=0.618;AC=1;AF=0.50;AN=2;BaseQRankSum=2.788;DB;DP=21;FS=0.0;HRun=9;HaplotypeScore=84.7008;IndelType=D;MQ=57.32;MQ0=0;MQRankSum=-0.109;QD=12.05;ReadPosRankSum=-1.195;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRFIP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420665 GT:AD:DP:GQ:PL 0/1:8,13:21:99:292,0,212
2 238664884 rs11680940 T C 198.39 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=1.588;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.847;QD=12.4;ReadPosRankSum=-0.106;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRFIP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000498053 GT:AD:DP:GQ:PL 0/1:9,7:16:99:228,0,326
2 238665965 rs10180757 A G 103.79 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.652;QD=11.53;ReadPosRankSum=1.307;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRFIP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000498053 GT:AD:DP:GQ:PL 0/1:5,4:9:99:134,0,174
2 238667311 rs7566942 T C 828.72 PASS AB=0.567;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.928;DB;DP=67;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8667;MQ=59.66;MQ0=0;MQRankSum=-1.33;QD=12.37;ReadPosRankSum=0.98;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRFIP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000498053 GT:AD:DP:GQ:PL 0/1:38,29:67:99:859,0,1244
2 238667501 rs11463162 G GA 1177.33 PASS AC=2;AF=1.00;AN=2;DB;DP=55;FS=0.0;HRun=9;HaplotypeScore=235.6227;IndelType=I;MQ=60.78;MQ0=0;QD=21.41;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRFIP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000498053 GT:AD:DP:GQ:PL 1/1:9,23:55:99:1219,138,0
2 238667552 rs2279639 T C 258.74 PASS AB=0.524;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.908;DB;DP=21;Dels=0.05;FS=0.0;HRun=0;HaplotypeScore=8.8647;MQ=60.98;MQ0=0;MQRankSum=-1.584;QD=11.76;ReadPosRankSum=0.528;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRFIP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000498053 GT:AD:DP:GQ:PL 0/1:11,10:21:99:289,0,394
2 238667568 rs2279640 T C 227.09 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.15;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=61.43;MQ0=0;MQRankSum=0.209;QD=15.14;ReadPosRankSum=-0.772;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRFIP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000498053 GT:AD:DP:GQ:PL 0/1:7,8:15:99:257,0,243
2 238668783 rs3213869 A G 778.62 PASS AB=0.378;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.323;DB;DP=45;Dels=0.0;FS=1.154;HRun=0;HaplotypeScore=0.0;MQ=59.07;MQ0=0;MQRankSum=0.41;QD=17.3;ReadPosRankSum=-0.878;SNPEFF_AMINO_ACID_CHANGE=Q219R;SNPEFF_CODON_CHANGE=cAa/cGa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_238668707_238668848;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRFIP1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000289175 GT:AD:DP:GQ:PL 0/1:17,28:45:99:809,0,560
2 238668802 rs3213868 A G 515.26 PASS AB=0.488;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.117;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.8957;MQ=59.44;MQ0=0;MQRankSum=-0.378;QD=12.57;ReadPosRankSum=-0.483;SNPEFF_AMINO_ACID_CHANGE=T225;SNPEFF_CODON_CHANGE=acA/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_238668707_238668848;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRFIP1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000289175 GT:AD:DP:GQ:PL 0/1:20,21:41:99:545,0,696
2 238672425 rs11680012 G C 484.30 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.467;DB;DP=34;Dels=0.0;FS=7.791;HRun=0;HaplotypeScore=0.0;MQ=58.9;MQ0=0;MQRankSum=-0.362;QD=14.24;ReadPosRankSum=1.363;SNPEFF_AMINO_ACID_CHANGE=R634T;SNPEFF_CODON_CHANGE=aGg/aCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_238671246_238673922;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRFIP1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000289175 GT:AD:DP:GQ:PL 0/1:16,18:34:99:514,0,534
2 238672703 rs3739038 C G 868.58 PASS AB=0.492;AC=1;AF=0.50;AN=2;BaseQRankSum=2.132;DB;DP=59;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.9665;MQ=59.22;MQ0=0;MQRankSum=0.607;QD=14.72;ReadPosRankSum=0.23;SNPEFF_AMINO_ACID_CHANGE=H727D;SNPEFF_CODON_CHANGE=Cac/Gac;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_238671246_238673922;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRFIP1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000289175 GT:AD:DP:GQ:PL 0/1:29,30:59:99:899,0,819
2 238672938 rs56151225 T C 240.06 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.48;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9894;MQ=60.0;MQ0=0;MQRankSum=0.898;QD=24.01;ReadPosRankSum=-0.48;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRFIP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000308482 GT:AD:DP:GQ:PL 0/1:2,8:10:38.62:270,0,39
2 238688244 rs1151798 A G 1433.82 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=59.44;MQ0=0;QD=34.97;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRFIP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464608 GT:AD:DP:GQ:PL 1/1:0,41:41:99:1467,108,0
2 238786132 rs1210881 G T 71.88 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.96;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RAMP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000254661 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:104,9,0
2 238896494 rs59213280 C CA 603.81 PASS AC=2;AF=1.00;AN=2;DB;DP=17;FS=0.0;HRun=0;HaplotypeScore=206.0627;IndelType=I;MQ=45.9;MQ0=0;QD=35.52;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=UBE2F;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272930 GT:AD:DP:GQ:PL 1/1:3,6:17:51.08:646,51,0
2 238903310 rs10203101 C T 323.52 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.35;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=UBE2F;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272930 GT:AD:DP:GQ:PL 1/1:0,10:10:27.08:357,27,0
2 238903399 rs12615308 G A 506.60 PASS AB=0.513;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.351;DB;DP=39;Dels=0.0;FS=1.243;HRun=0;HaplotypeScore=1.5115;MQ=60.0;MQ0=0;MQRankSum=0.183;QD=12.99;ReadPosRankSum=0.576;SNPEFF_AMINO_ACID_CHANGE=V30;SNPEFF_CODON_CHANGE=gtG/gtA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_238903386_238903451;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=UBE2F;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000409953 GT:AD:DP:GQ:PL 0/1:20,19:39:99:537,0,665
2 238925473 rs2875817 G A 130.57 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.64;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=UBE2F;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000433568 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:163,12,0
2 238939000 rs6431578 G A 39.99 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=47.12;MQ0=0;QD=19.99;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=UBE2F;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272930 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:71,6,0
2 238949743 rs708078 G A 91.07 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=UBE2F;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272930 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:123,9,0
2 238972827 rs821480 T C 54.41 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.21;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCLY;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000254663 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:86,6,0
2 238990135 rs2249173 G C 138.40 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.6;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCLY;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000254663 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:171,12,0
2 238990985 rs2249077 T C 48.08 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.04;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCLY;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000413463 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
2 238991561 rs3835105 CT C 137.85 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.739;DB;DP=13;FS=0.0;HRun=14;HaplotypeScore=79.942;IndelType=D;MQ=54.44;MQ0=0;MQRankSum=-0.474;QD=10.6;ReadPosRankSum=-0.474;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCLY;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000413463 GT:AD:DP:GQ:PL 1/1:2,10:13:4.91:178,5,0
2 238991733 rs2243417 C A 1583.85 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9332;MQ=58.95;MQ0=0;QD=36.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCLY;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000413463 GT:AD:DP:GQ:PL 1/1:0,44:44:99:1617,120,0
2 239025315 rs11901818 A T 43.38 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=14.46;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ESPNL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343063 GT:AD:DP:GQ:PL 0/1:1,2:3:33.20:73,0,33
2 239025367 rs11896543 C T 114.69 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.72;QD=19.12;ReadPosRankSum=0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ESPNL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343063 GT:AD:DP:GQ:PL 0/1:2,4:6:64.95:145,0,65
2 239025523 rs11903074 T C 287.15 PASS AB=0.711;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.805;DB;DP=39;Dels=0.0;FS=5.756;HRun=0;HaplotypeScore=1.5774;MQ=60.0;MQ0=0;MQRankSum=0.354;QD=7.36;ReadPosRankSum=-0.064;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ESPNL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343063 GT:AD:DP:GQ:PL 0/1:27,11:39:99:317,0,751
2 239025630 rs11904159 T C 176.45 PASS AB=0.621;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.91;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.337;QD=5.88;ReadPosRankSum=-0.697;SNPEFF_AMINO_ACID_CHANGE=H314;SNPEFF_CODON_CHANGE=caT/caC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_239025544_239025675;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ESPNL;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000343063 GT:AD:DP:GQ:PL 0/1:18,11:30:99:206,0,570
2 239025645 rs11897736 C T 162.81 PASS AB=0.654;AC=1;AF=0.50;AN=2;BaseQRankSum=2.048;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9867;MQ=60.0;MQ0=0;MQRankSum=0.808;QD=6.26;ReadPosRankSum=0.808;SNPEFF_AMINO_ACID_CHANGE=C319;SNPEFF_CODON_CHANGE=tgC/tgT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_239025544_239025675;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ESPNL;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000343063 GT:AD:DP:GQ:PL 0/1:17,9:26:99:193,0,504
2 239033901 rs10172440 T C 158.79 PASS AB=0.385;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.461;DB;DP=13;Dels=0.0;FS=2.632;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.689;QD=12.21;ReadPosRankSum=0.529;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ESPNL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343063 GT:AD:DP:GQ:PL 0/1:5,8:13:99:189,0,137
2 239036270 rs13382446 C T 105.06 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.421;DB;DP=10;Dels=0.0;FS=3.68;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.922;QD=10.51;ReadPosRankSum=2.017;SNPEFF_AMINO_ACID_CHANGE=S2;SNPEFF_CODON_CHANGE=tcC/tcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_239036263_239036375;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ESPNL;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000409506 GT:AD:DP:GQ:PL 0/1:4,6:10:99:135,0,136
2 239036416 rs12692214 T C 72.77 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=6;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.231;QD=12.13;ReadPosRankSum=0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ESPNL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343063 GT:AD:DP:GQ:PL 0/1:3,3:6:61.73:103,0,62
2 239039637 rs4663845 T C 32.79 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=16.39;SNPEFF_AMINO_ACID_CHANGE=V393A;SNPEFF_CODON_CHANGE=gTg/gCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_239038769_239041928;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ESPNL;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000409506 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:64,6,0
2 239039896 rs10182906 G C 75.07 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.02;SNPEFF_AMINO_ACID_CHANGE=P479;SNPEFF_CODON_CHANGE=ccG/ccC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_239038769_239041928;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ESPNL;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000409506 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:107,9,0
2 239040187 rs12692215 T C 599.44 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.55;SNPEFF_AMINO_ACID_CHANGE=G576;SNPEFF_CODON_CHANGE=ggT/ggC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_239038769_239041928;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ESPNL;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000409506 GT:AD:DP:GQ:PL 1/1:0,18:18:48.15:632,48,0
2 239040218 rs73102309 G A 298.97 PASS AB=0.56;AC=1;AF=0.50;AN=2;BaseQRankSum=2.272;DB;DP=25;Dels=0.0;FS=1.875;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.684;QD=11.96;ReadPosRankSum=0.52;SNPEFF_AMINO_ACID_CHANGE=A587T;SNPEFF_CODON_CHANGE=Gcc/Acc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_239038769_239041928;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ESPNL;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000409506 GT:AD:DP:GQ:PL 0/1:14,11:25:99:329,0,400
2 239051550 rs935411 T C 401.15 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.07;SNPEFF_AMINO_ACID_CHANGE=F277;SNPEFF_CODON_CHANGE=ttT/ttC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_239051440_239051572;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KLHL30;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000305959 GT:AD:DP:GQ:PL 1/1:0,16:16:33.10:434,33,0
2 239053436 rs12623661 G C 111.22 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.036;DB;DP=10;Dels=0.0;FS=2.43;HRun=0;HaplotypeScore=0.0;MQ=57.66;MQ0=0;MQRankSum=1.133;QD=11.12;ReadPosRankSum=-1.866;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KLHL30;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000305959 GT:AD:DP:GQ:PL 0/1:4,6:10:99:141,0,99
2 239053685 rs13013945 A C 224.69 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.387;DB;DP=17;Dels=0.0;FS=3.59;HRun=1;HaplotypeScore=0.0;MQ=59.46;MQ0=0;MQRankSum=-1.27;QD=13.22;ReadPosRankSum=-0.423;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KLHL30;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000305959 GT:AD:DP:GQ:PL 0/1:8,9:17:99:255,0,243
2 239054504 rs11674140 G T 118.07 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.52;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KLHL30;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000305959 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:151,12,0
2 239059484 rs7605194 T C 157.25 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=51.77;MQ0=0;QD=26.21;SNPEFF_AMINO_ACID_CHANGE=N487;SNPEFF_CODON_CHANGE=aaT/aaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_239059455_239061547;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KLHL30;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000305959 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:190,15,0
2 239070272 . G A 146.63 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=1.954;DP=13;Dels=0.0;FS=9.89;HRun=0;HaplotypeScore=0.0;MQ=58.2;MQ0=0;MQRankSum=-0.377;QD=11.28;ReadPosRankSum=0.811;SNPEFF_AMINO_ACID_CHANGE=R79Q;SNPEFF_CODON_CHANGE=cGg/cAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_239070235_239070357;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=FAM132B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000546354 GT:AD:DP:GQ:PL 0/1:7,6:13:99:177,0,159
2 239079029 rs41270751 A G 37.78 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=51.77;MQ0=0;MQRankSum=0.358;QD=6.3;ReadPosRankSum=-0.358;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC016757.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408994 GT:AD:DP:GQ:PL 0/1:2,4:6:64.40:68,0,64
2 239079791 rs7577745 T A 52.59 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.884;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=4.695;MQ=57.05;MQ0=0;MQRankSum=0.766;QD=3.29;ReadPosRankSum=0.059;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC016757.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408994 GT:AD:DP:GQ:PL 0/1:10,6:16:82.58:83,0,275
2 239082040 rs7585597 T C 32.85 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=6.57;ReadPosRankSum=-1.231;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC016757.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408994 GT:AD:DP:GQ:PL 0/1:3,2:5:62.84:63,0,108
2 239082166 rs3832064 G GC 332.10 PASS AB=0.744;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.669;DB;DP=29;FS=0.0;HRun=2;HaplotypeScore=69.4943;IndelType=I;MQ=59.2;MQ0=0;MQRankSum=-0.941;QD=11.45;ReadPosRankSum=0.188;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC016757.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408994 GT:AD:DP:GQ:PL 0/1:19,10:29:99:371,0,548
2 239093788 rs6431588 T C 69.04 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=1.203;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.573;QD=7.67;ReadPosRankSum=1.422;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ILKAP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467133 GT:AD:DP:GQ:PL 0/1:6,3:9:99:99,0,186
2 239096999 rs60823094 A C 38.96 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.589;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.185;QD=3.25;ReadPosRankSum=0.74;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ILKAP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467133 GT:AD:DP:GQ:PL 0/1:9,3:12:68.96:69,0,301
2 239134138 rs7572392 A C 87.61 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=1.92;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.658;QD=4.17;ReadPosRankSum=0.262;SNPEFF_AMINO_ACID_CHANGE=V23G;SNPEFF_CODON_CHANGE=gTc/gGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_239133754_239134140;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC016757.3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000334973 GT:AD:DP:GQ:PL 0/1:15,5:20:99:118,0,477
2 239139883 rs13425452 G C 408.71 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.06;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC016757.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334973 GT:AD:DP:GQ:PL 1/1:0,12:12:33.11:442,33,0
2 239141505 rs148845540 A G 1287.89 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.54;MQ0=0;QD=35.77;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC016757.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334973 GT:AD:DP:GQ:PL 1/1:0,36:36:96.32:1321,96,0
2 239141724 rs11695827 G A 326.30 PASS AB=0.421;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.362;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=54.89;MQ0=0;MQRankSum=1.94;QD=17.17;ReadPosRankSum=-0.702;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC016757.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334973 GT:AD:DP:GQ:PL 0/1:8,11:19:99:356,0,217
2 239148575 rs11697 C A 32.24 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=47.12;MQ0=0;QD=16.12;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PER2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000254657 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:63,6,0
2 239148970 rs56294817 C A 35.74 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.87;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PER2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000254657 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:67,6,0
2 239155053 rs934945 C T 125 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.8;DB;DP=14;Dels=0.0;FS=2.963;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.4;QD=8.93;ReadPosRankSum=0.933;SNPEFF_AMINO_ACID_CHANGE=G1244E;SNPEFF_CODON_CHANGE=gGa/gAa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_239152679_239155165;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PER2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000254657 GT:AD:DP:GQ:PL 0/1:9,5:14:99:155,0,328
2 239157721 rs35873326 G A 1918.13 PASS AB=0.43;AC=1;AF=0.50;AN=2;BaseQRankSum=2.12;DB;DP=114;Dels=0.0;FS=2.425;HRun=0;HaplotypeScore=1.8055;MQ=59.38;MQ0=0;MQRankSum=1.602;QD=16.83;ReadPosRankSum=-0.479;SNPEFF_AMINO_ACID_CHANGE=P1200;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_239157703_239157853;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PER2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000254657 GT:AD:DP:GQ:PL 0/1:49,65:114:99:1948,0,1532
2 239162318 rs10195959 G A 122 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.495;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.922;QD=15.25;ReadPosRankSum=0.922;SNPEFF_AMINO_ACID_CHANGE=S782;SNPEFF_CODON_CHANGE=tcC/tcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_239161553_239162343;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PER2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000254657 GT:AD:DP:GQ:PL 0/1:3,5:8:67.59:152,0,68
2 239174290 rs78907943 T C 434.76 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=1.102;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.23;MQ0=0;MQRankSum=1.309;QD=14.49;ReadPosRankSum=1.517;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PER2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000254657 GT:AD:DP:GQ:PL 0/1:16,14:30:99:465,0,538
2 239184581 rs10462023 G A 263.64 PASS AB=0.686;AC=1;AF=0.50;AN=2;BaseQRankSum=0.737;DB;DP=35;Dels=0.0;FS=2.089;HRun=1;HaplotypeScore=0.0;MQ=57.28;MQ0=0;MQRankSum=-0.624;QD=7.53;ReadPosRankSum=0.208;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PER2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000254657 GT:AD:DP:GQ:PL 0/1:24,11:35:99:294,0,855
2 239237953 rs12464423 G T 907.96 PASS AB=0.517;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.09;DB;DP=58;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.6;MQ0=0;MQRankSum=-0.5;QD=15.65;ReadPosRankSum=0.09;SNPEFF_AMINO_ACID_CHANGE=K295N;SNPEFF_CODON_CHANGE=aaG/aaT;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_239237567_239237983;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRAF3IP1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000373327 GT:AD:DP:GQ:PL 0/1:30,28:58:99:938,0,906
2 239241279 rs148697277 G A 43.89 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=10.97;ReadPosRankSum=-0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRAF3IP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409739 GT:AD:DP:GQ:PL 0/1:1,2:4:18.64:74,0,19
2 239247174 rs73090911 A G 96.64 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=51.73;MQ0=0;MQRankSum=-0.72;QD=16.11;ReadPosRankSum=-0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRAF3IP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000373327 GT:AD:DP:GQ:PL 0/1:2,4:6:65.85:127,0,66
2 239307245 rs571820 A G 148.17 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.984;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.7887;MQ=58.55;MQ0=0;MQRankSum=-0.405;QD=9.26;ReadPosRankSum=0.752;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRAF3IP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462122 GT:AD:DP:GQ:PL 0/1:9,7:16:99:178,0,281
2 239990003 rs62189533 C T 87.62 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.21;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HDAC4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000345617 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:120,9,0
2 240003870 rs1063639 G A 2265.31 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7334;MQ=59.32;MQ0=0;QD=33.31;SNPEFF_AMINO_ACID_CHANGE=P439;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_240003798_240003917;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HDAC4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000543185 GT:AD:DP:GQ:PL 1/1:0,68:68:99:2298,175,0
2 240016824 rs2279274 A G 1286.22 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.34;MQ0=0;QD=36.75;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HDAC4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000345617 GT:AD:DP:GQ:PL 1/1:0,35:35:99:1319,99,0
2 240029736 rs7585225 T C 635.02 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.75;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HDAC4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000345617 GT:AD:DP:GQ:PL 1/1:0,20:20:48.16:668,48,0
2 240048027 rs2277885 C T 94.48 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.9;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HDAC4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461113 GT:AD:DP:GQ:PL 1/1:0,5:5:9.03:127,9,0
2 240055901 rs2278778 G A 134.53 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=19.22;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HDAC4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000553145 GT:AD:DP:GQ:PL 1/1:0,7:7:12.04:167,12,0
2 240066417 rs2290087 A G 1264.17 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.44;MQ0=0;QD=30.83;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HDAC4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000345617 GT:AD:DP:GQ:PL 1/1:0,41:41:99:1297,105,0
2 240066526 rs2290088 T C 320.80 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.08;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HDAC4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000345617 GT:AD:DP:GQ:PL 1/1:0,10:10:30.09:354,30,0
2 240078587 rs5839723 GAC G 252.28 PASS AC=2;AF=1.00;AN=2;DB;DP=9;FS=0.0;HRun=0;HaplotypeScore=28.754;IndelType=D;MQ=54.44;MQ0=1;QD=25.23;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC017028.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000396489 GT:AD:DP:GQ:PL 1/1:2,8:9:21.07:294,21,0
2 240083528 rs3791515 G A 240.69 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.74;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HDAC4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000454542 GT:AD:DP:GQ:PL 1/1:0,9:9:21.07:274,21,0
2 240083731 rs3828216 C T 305.98 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.6;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HDAC4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000454542 GT:AD:DP:GQ:PL 1/1:0,10:10:27.08:339,27,0
2 240084211 rs7581200 G A 82.06 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.35;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HDAC4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000454542 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:114,9,0
2 240085403 rs11124182 C A 804.70 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.99;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HDAC4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000454542 GT:AD:DP:GQ:PL 1/1:0,23:23:60.20:838,60,0
2 240085674 rs13010577 C T 1415.58 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.41;MQ0=0;QD=36.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HDAC4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000345617 GT:AD:DP:GQ:PL 1/1:0,39:39:99:1449,111,0
2 240085795 rs2290089 A C 241.75 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.86;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HDAC4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000345617 GT:AD:DP:GQ:PL 1/1:0,9:9:24.07:275,24,0
2 240098053 . C CCCCTCCCTCTGCCCGGCCT 8128.38 PASS AC=2;AF=1.00;AN=2;DP=40;FS=0.0;HRun=0;HaplotypeScore=363.4394;IndelType=I;MQ=43.87;MQ0=0;QD=176.7;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HDAC4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000446876 GT:AD:DP:GQ:PL 1/1:10,28:40:99:8128,117,0
2 240111477 rs531993 A T 177.27 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.54;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HDAC4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000345617 GT:AD:DP:GQ:PL 1/1:0,6:6:18.04:210,18,0
2 240323661 rs1709851 C A 293.52 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=1.2;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.4538;MQ=58.45;MQ0=0;MQRankSum=-1.6;QD=19.57;ReadPosRankSum=0.4;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC062017.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409526 GT:AD:DP:GQ:PL 0/1:5,10:15:99:324,0,164
2 240323905 rs3215239 T TG 1048.55 PASS AB=0.685;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.282;DB;DP=63;FS=3.596;HRun=1;HaplotypeScore=146.0813;IndelType=I;MQ=60.68;MQ0=0;MQRankSum=0.975;QD=16.64;ReadPosRankSum=-0.44;SNPEFF_EFFECT=FRAME_SHIFT;SNPEFF_EXON_ID=exon_2_240323769_240324051;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC062017.1;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000409526 GT:AD:DP:GQ:PL 0/1:34,29:63:99:1088,0,1052
2 240500286 rs79203560 A G 32.79 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=16.39;SNPEFF_AMINO_ACID_CHANGE=Q56R;SNPEFF_CODON_CHANGE=cAg/cGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_240499995_240500618;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=AC079612.1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000358775 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:64,6,0
2 240500413 rs6543554 A G 158.16 PASS AB=0.733;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.44;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.0;QD=5.27;ReadPosRankSum=-0.952;SNPEFF_AMINO_ACID_CHANGE=P98;SNPEFF_CODON_CHANGE=ccA/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_240499995_240500618;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=AC079612.1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000358775 GT:AD:DP:GQ:PL 0/1:22,8:30:99:188,0,766
2 240500459 rs78138656 T G 384.38 PASS AB=0.674;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.309;DB;DP=43;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.03;MQ0=0;MQRankSum=1.335;QD=8.94;ReadPosRankSum=-0.479;SNPEFF_AMINO_ACID_CHANGE=S114A;SNPEFF_CODON_CHANGE=Tcc/Gcc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_240499995_240500618;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=AC079612.1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000358775 GT:AD:DP:GQ:PL 0/1:29,14:43:99:414,0,976
2 240500560 rs115567488 T C 1434.76 PASS AB=0.505;AC=1;AF=0.50;AN=2;BaseQRankSum=3.409;DB;DP=101;Dels=0.0;FS=9.762;HRun=0;HaplotypeScore=6.1786;MQ=59.4;MQ0=0;MQRankSum=1.389;QD=14.21;ReadPosRankSum=0.472;SNPEFF_AMINO_ACID_CHANGE=I147;SNPEFF_CODON_CHANGE=atT/atC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_240499995_240500618;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=AC079612.1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000358775 GT:AD:DP:GQ:PL 0/1:51,50:101:99:1465,0,1560
2 240692087 rs4851994 T G 55.57 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.219;DB;DP=9;Dels=0.0;FS=3.522;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.361;QD=6.17;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC093802.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000407524 GT:AD:DP:GQ:PL 0/1:5,4:9:85.57:86,0,186
2 240721598 rs12613844 T G 52.22 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.11;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC093802.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000407524 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:83,6,0
2 240909090 rs145000309 TCA T 387.46 PASS AB=0.677;AC=1;AF=0.50;AN=2;BaseQRankSum=3.134;DB;DP=21;FS=4.123;HRun=0;HaplotypeScore=68.6522;IndelType=D;MQ=60.51;MQ0=0;MQRankSum=0.81;QD=18.45;ReadPosRankSum=-0.317;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NDUFA10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000448880 GT:AD:DP:GQ:PL 0/1:11,10:21:99:426,0,584
2 240909369 rs77999459 A G 37.19 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.026;QD=9.3;ReadPosRankSum=1.026;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NDUFA10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000448880 GT:AD:DP:GQ:PL 0/1:2,2:4:63.55:67,0,64
2 240922822 rs958960 C A 323.03 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.366;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.33;MQ0=0;MQRankSum=-0.023;QD=11.54;ReadPosRankSum=0.72;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NDUFA10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307300 GT:AD:DP:GQ:PL 0/1:16,12:28:99:353,0,540
2 240923050 rs1530144 C T 348.39 PASS AB=0.588;AC=1;AF=0.50;AN=2;BaseQRankSum=3.797;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7884;MQ=60.0;MQ0=0;MQRankSum=-0.962;QD=10.25;ReadPosRankSum=0.297;SNPEFF_AMINO_ACID_CHANGE=V392M;SNPEFF_CODON_CHANGE=Gtg/Atg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_240922934_240923134;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NDUFA10;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000307300 GT:AD:DP:GQ:PL 0/1:20,14:34:99:378,0,619
2 240946559 rs6713039 G A 47.98 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.99;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NDUFA10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000252711 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
2 240957801 rs10804402 G A 571.32 PASS AB=0.321;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.295;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.492;QD=20.4;ReadPosRankSum=0.984;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NDUFA10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000407129 GT:AD:DP:GQ:PL 0/1:9,19:28:99:601,0,287
2 240958129 rs4149540 C T 545.99 PASS AB=0.525;AC=1;AF=0.50;AN=2;BaseQRankSum=0.081;DB;DP=40;Dels=0.0;FS=6.332;HRun=2;HaplotypeScore=0.0;MQ=59.53;MQ0=0;MQRankSum=-1.571;QD=13.65;ReadPosRankSum=-0.135;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NDUFA10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000497536 GT:AD:DP:GQ:PL 0/1:21,19:40:99:576,0,695
2 240961639 rs35715497 T C 958.18 PASS AB=0.547;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.367;DB;DP=75;Dels=0.0;FS=6.11;HRun=0;HaplotypeScore=0.6651;MQ=59.38;MQ0=0;MQRankSum=0.069;QD=12.78;ReadPosRankSum=0.697;SNPEFF_AMINO_ACID_CHANGE=N65S;SNPEFF_CODON_CHANGE=aAt/aGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_240961589_240961757;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NDUFA10;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000252711 GT:AD:DP:GQ:PL 0/1:41,34:75:99:988,0,1216
2 240961728 rs2083411 T C 409.08 PASS AB=0.469;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.113;DB;DP=32;Dels=0.0;FS=15.556;HRun=0;HaplotypeScore=1.999;MQ=60.0;MQ0=0;MQRankSum=-2.341;QD=12.78;ReadPosRankSum=-0.038;SNPEFF_AMINO_ACID_CHANGE=K35;SNPEFF_CODON_CHANGE=aaA/aaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_240961589_240961757;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NDUFA10;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000252711 GT:AD:DP:GQ:PL 0/1:15,17:32:99:439,0,537
2 240961852 rs7596788 A G 72.39 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.406;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=12.06;ReadPosRankSum=0.406;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NDUFA10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000252711 GT:AD:DP:GQ:PL 0/1:3,3:6:99:102,0,107
2 240981179 rs6731916 T C 151.80 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.3;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR6B3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000319423 GT:AD:DP:GQ:PL 1/1:0,6:6:15.03:185,15,0
2 240981262 rs6728493 A C 623.79 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.83;MQ0=0;QD=29.7;SNPEFF_AMINO_ACID_CHANGE=S380A;SNPEFF_CODON_CHANGE=Tct/Gct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_240981230_240982399;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRR21;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000408934 GT:AD:DP:GQ:PL 1/1:0,21:21:51.16:657,51,0
2 240981375 rs6732185 T A 1446.37 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=54.28;MQ0=0;QD=33.64;SNPEFF_AMINO_ACID_CHANGE=K342M;SNPEFF_CODON_CHANGE=aAg/aTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_240981230_240982399;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRR21;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000408934 GT:AD:DP:GQ:PL 1/1:0,43:43:99:1479,111,0
2 240981487 rs60617721 A G 761.68 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=4.0967;MQ=33.79;MQ0=6;QD=17.71;SNPEFF_AMINO_ACID_CHANGE=C305R;SNPEFF_CODON_CHANGE=Tgc/Cgc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_240981230_240982399;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRR21;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000408934 GT:AD:DP:GQ:PL 1/1:0,43:43:69.16:795,69,0
2 240981515 rs59139800 A G 244.08 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9983;MQ=19.62;MQ0=6;QD=9.04;SNPEFF_AMINO_ACID_CHANGE=H295;SNPEFF_CODON_CHANGE=caT/caC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_240981230_240982399;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRR21;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000408934 GT:AD:DP:GQ:PL 1/1:0,27:27:27.03:277,27,0
2 240982219 rs74006013 A G 72.25 MQFilter40 AC=2;AF=1.00;AN=2;BaseQRankSum=0.727;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=2.9202;MQ=29.87;MQ0=2;MQRankSum=0.727;QD=12.04;ReadPosRankSum=0.727;SNPEFF_AMINO_ACID_CHANGE=S61P;SNPEFF_CODON_CHANGE=Tcc/Ccc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_240981230_240982399;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRR21;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000408934 GT:AD:DP:GQ:PL 1/1:1,5:6:9.02:104,9,0
2 240982228 rs10439373 C T 67.55 MQFilter40 AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.8937;MQ=35.77;MQ0=2;MQRankSum=1.231;QD=9.65;ReadPosRankSum=-1.231;SNPEFF_AMINO_ACID_CHANGE=G58S;SNPEFF_CODON_CHANGE=Ggc/Agc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_240981230_240982399;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRR21;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000408934 GT:AD:DP:GQ:PL 0/1:2,5:7:21.40:98,0,21
2 240982247 rs75044548 A G 89.55 MQFilter40 AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=8;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9734;MQ=35.92;MQ0=2;MQRankSum=1.38;QD=11.19;ReadPosRankSum=-0.72;SNPEFF_AMINO_ACID_CHANGE=H51;SNPEFF_CODON_CHANGE=caT/caC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_240981230_240982399;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRR21;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000408934 GT:AD:DP:GQ:PL 0/1:2,6:8:18.41:120,0,18
2 240982257 rs62184587 A G 118.89 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=38.55;MQ0=2;QD=13.21;SNPEFF_AMINO_ACID_CHANGE=M48T;SNPEFF_CODON_CHANGE=aTg/aCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_240981230_240982399;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRR21;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000408934 GT:AD:DP:GQ:PL 1/1:0,9:9:12.04:151,12,0
2 240982271 rs76841013 G A 265.68 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.044;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=43.86;MQ0=2;MQRankSum=1.393;QD=20.44;ReadPosRankSum=-0.348;SNPEFF_AMINO_ACID_CHANGE=H43;SNPEFF_CODON_CHANGE=caC/caT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_240981230_240982399;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRR21;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000408934 GT:AD:DP:GQ:PL 1/1:1,12:13:24.07:299,24,0
2 240982443 rs34596708 C T 88.52 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.44;MQ0=0;QD=29.51;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR6B3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000319423 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:121,9,0
2 240982449 rs35318485 C T 87.93 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.44;MQ0=0;QD=29.31;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR6B3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000319423 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:120,9,0
2 240984789 rs12465491 C T 1567.56 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.68;MQ0=0;QD=34.08;SNPEFF_AMINO_ACID_CHANGE=C234Y;SNPEFF_CODON_CHANGE=tGc/tAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_240984494_240985489;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR6B3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000319423 GT:AD:DP:GQ:PL 1/1:0,46:46:99:1601,123,0
2 240985099 rs150098707 G A 94.24 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=16.04;MQ0=15;QD=4.28;SNPEFF_AMINO_ACID_CHANGE=R131C;SNPEFF_CODON_CHANGE=Cgc/Tgc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_240984494_240985489;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR6B3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000319423 GT:AD:DP:GQ:PL 1/1:10,12:22:12.01:127,12,0
2 240985347 rs13030992 G A 555.93 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=21.53;MQ0=11;QD=17.37;SNPEFF_AMINO_ACID_CHANGE=T48I;SNPEFF_CODON_CHANGE=aCc/aTc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_240984494_240985489;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR6B3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000319423 GT:AD:DP:GQ:PL 1/1:0,32:32:57.09:589,57,0
2 240985511 rs10933560 A G 994.78 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=55.64;MQ0=0;QD=32.09;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR6B3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000319423 GT:AD:DP:GQ:PL 1/1:0,31:31:78.24:1028,78,0
2 241066280 rs4292120 C T 2483.36 PASS AC=2;AF=1.00;AN=2;DB;DP=84;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.45;MQ0=0;QD=29.56;SNPEFF_AMINO_ACID_CHANGE=E153;SNPEFF_CODON_CHANGE=gaG/gaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_241065980_241066357;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYEOV2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000307266 GT:AD:DP:GQ:PL 1/1:0,84:84:99:2516,196,0
2 241069348 rs115914450 G A 982.72 PASS AB=0.377;AC=1;AF=0.50;AN=2;BaseQRankSum=1.899;DB;DP=54;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=59.57;MQ0=0;MQRankSum=1.275;QD=18.2;ReadPosRankSum=1.22;SNPEFF_AMINO_ACID_CHANGE=R121W;SNPEFF_CODON_CHANGE=Cgg/Tgg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_241069328_241069445;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYEOV2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000307266 GT:AD:DP:GQ:PL 0/1:20,33:54:99:1013,0,510
2 241073170 rs747741 C T 128.07 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.02;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYEOV2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307266 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:161,12,0
2 241073450 rs3749078 C T 1623.85 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.14;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OTOS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000319460 GT:AD:DP:GQ:PL 1/1:0,49:49:99:1657,126,0
2 241375527 rs2352823 C T 67.39 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.876;DB;DP=9;Dels=0.0;FS=3.522;HRun=0;HaplotypeScore=0.0;MQ=57.39;MQ0=0;MQRankSum=0.729;QD=7.49;ReadPosRankSum=-1.307;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264039 GT:AD:DP:GQ:PL 0/1:4,5:9:97.38:97,0,128
2 241390516 rs3828336 C T 317.38 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.387;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=58.95;MQ0=0;MQRankSum=1.303;QD=14.43;ReadPosRankSum=-1.514;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=AC110619.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000404327 GT:AD:DP:GQ:PL 0/1:11,11:22:99:347,0,350
2 241401566 rs35971355 G A 37.35 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=9.34;ReadPosRankSum=1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264039 GT:AD:DP:GQ:PL 0/1:2,2:4:35.74:67,0,36
2 241403955 rs3830536 GTGACGCCTGCGTGTGCGTGTCAACGCCTGTGTGCGCGCGT G 1702.03 PASS AC=2;AF=1.00;AN=2;DB;DP=11;FS=0.0;HRun=0;HaplotypeScore=406.172;IndelType=D;MQ=44.85;MQ0=0;QD=154.73;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426280 GT:AD:DP:GQ:PL 1/1:1,10:11:30.10:1744,30,0
2 241404317 rs2229458 C T 48.08 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=16.03;SNPEFF_AMINO_ACID_CHANGE=P353;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_241404273_241404392;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPC1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000264039 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:79,6,0
2 241404499 rs2228327 C T 135.56 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.336;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.33;MQ0=0;MQRankSum=-1.268;QD=9.68;ReadPosRankSum=0.103;SNPEFF_AMINO_ACID_CHANGE=S380;SNPEFF_CODON_CHANGE=tcC/tcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_241404494_241404627;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPC1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000264039 GT:AD:DP:GQ:PL 0/1:7,7:14:99:166,0,161
2 241404758 rs10188712 G A 64.31 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.44;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426280 GT:AD:DP:GQ:PL 1/1:0,3:3:9.01:96,9,0
2 241405454 rs6760745 G A 189.92 PASS AB=0.222;AC=1;AF=0.50;AN=2;BaseQRankSum=0.747;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=44.79;MQ0=0;MQRankSum=-0.747;QD=21.1;ReadPosRankSum=-0.747;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426280 GT:AD:DP:GQ:PL 0/1:2,7:9:12.93:220,0,13
2 241405485 rs2228330 C T 118.58 PASS AB=0.684;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.412;DB;DP=20;Dels=0.0;FS=4.771;HRun=0;HaplotypeScore=2.6676;MQ=48.28;MQ0=0;MQRankSum=-1.096;QD=5.93;ReadPosRankSum=0.219;SNPEFF_AMINO_ACID_CHANGE=G485;SNPEFF_CODON_CHANGE=ggC/ggT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_241405475_241407493;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPC1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000264039 GT:AD:DP:GQ:PL 0/1:13,6:20:99:149,0,434
2 241405528 rs2228331 A G 806.12 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=55.8;MQ0=0;QD=23.71;SNPEFF_AMINO_ACID_CHANGE=S500G;SNPEFF_CODON_CHANGE=Agc/Ggc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_241405475_241407493;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPC1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000264039 GT:AD:DP:GQ:PL 1/1:0,34:34:75.14:839,75,0
2 241439809 rs78414006 C A 122.66 PASS AB=0.706;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.793;DB;DP=17;Dels=0.0;FS=6.166;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=0.68;QD=7.22;ReadPosRankSum=0.34;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKMY1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000489677 GT:AD:DP:GQ:PL 0/1:12,5:17:99:153,0,370
2 241451350 rs10427348 C T 275.38 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=2.688;DB;DP=30;Dels=0.0;FS=8.7;HRun=0;HaplotypeScore=1.7333;MQ=60.0;MQ0=0;MQRankSum=-1.122;QD=9.18;ReadPosRankSum=-0.487;SNPEFF_AMINO_ACID_CHANGE=T410;SNPEFF_CODON_CHANGE=acG/acA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_241451278_241451418;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKMY1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000406958 GT:AD:DP:GQ:PL 0/1:18,12:30:99:305,0,506
2 241452198 rs12695025 T C 125.12 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=1.67;DB;DP=14;Dels=0.0;FS=2.398;HRun=2;HaplotypeScore=0.0;MQ=58.33;MQ0=0;MQRankSum=0.0;QD=8.94;ReadPosRankSum=-0.212;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKMY1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000536462 GT:AD:DP:GQ:PL 0/1:9,5:14:99:155,0,207
2 241452212 rs12695026 T C 171.64 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.872;DB;DP=15;Dels=0.0;FS=5.219;HRun=0;HaplotypeScore=0.0;MQ=58.45;MQ0=0;MQRankSum=-0.323;QD=11.44;ReadPosRankSum=0.323;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKMY1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000536462 GT:AD:DP:GQ:PL 0/1:9,6:15:99:202,0,224
2 241463453 rs3821348 C A 1040.96 PASS AB=0.464;AC=1;AF=0.50;AN=2;BaseQRankSum=4.565;DB;DP=69;Dels=0.0;FS=0.921;HRun=1;HaplotypeScore=2.5114;MQ=59.67;MQ0=0;MQRankSum=0.67;QD=15.09;ReadPosRankSum=-0.215;SNPEFF_AMINO_ACID_CHANGE=V242L;SNPEFF_CODON_CHANGE=Gtg/Ttg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_241463302_241463798;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKMY1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000373320 GT:AD:DP:GQ:PL 0/1:32,37:69:99:1071,0,843
2 241465994 rs10933611 T C 68.15 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.406;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=11.36;ReadPosRankSum=0.406;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKMY1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418708 GT:AD:DP:GQ:PL 0/1:3,3:6:90.86:98,0,91
2 241492255 rs4676428 G T 565.24 PASS AB=0.55;AC=1;AF=0.50;AN=2;BaseQRankSum=4.336;DB;DP=40;Dels=0.0;FS=3.695;HRun=0;HaplotypeScore=0.0;MQ=59.42;MQ0=0;MQRankSum=1.074;QD=14.13;ReadPosRankSum=1.781;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKMY1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000411765 GT:AD:DP:GQ:PL 0/1:22,18:40:99:595,0,646
2 241492528 rs10933614 A T 60.34 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9159;MQ=60.0;MQ0=0;MQRankSum=-0.6;QD=5.03;ReadPosRankSum=-1.134;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKMY1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000411765 GT:AD:DP:GQ:PL 0/1:8,4:12:90.34:90,0,266
2 241496445 rs11285932 TA T 407.63 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=2.1;DB;DP=14;FS=0.0;HRun=1;HaplotypeScore=33.7258;IndelType=D;MQ=62.28;MQ0=0;MQRankSum=-0.091;QD=29.12;ReadPosRankSum=-1.004;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKMY1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272972 GT:AD:DP:GQ:PL 0/1:2,12:14:53.84:447,0,54
2 241496567 rs7609147 A G 701.27 PASS AB=0.468;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.919;DB;DP=47;Dels=0.0;FS=20.671;HRun=2;HaplotypeScore=0.9998;MQ=59.01;MQ0=0;MQRankSum=-0.132;QD=14.92;ReadPosRankSum=0.243;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKMY1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272972 GT:AD:DP:GQ:PL 0/1:22,25:47:99:731,0,600
2 241516616 rs2953177 A G 211.48 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.25;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RNPEPL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000451363 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:244,18,0
2 241531737 rs2975762 A G 68.70 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.231;QD=13.74;ReadPosRankSum=-1.231;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAPN10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463653 GT:AD:DP:GQ:PL 0/1:2,3:5:67.94:99,0,68
2 241533845 rs2975763 T C 1196.92 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.2;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAPN10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000432084 GT:AD:DP:GQ:PL 1/1:0,35:35:96.29:1230,96,0
2 241534188 rs70961719 A T 33.20 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.55;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.05;MQ0=0;MQRankSum=1.754;QD=4.15;ReadPosRankSum=-0.55;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAPN10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000432084 GT:AD:DP:GQ:PL 0/1:4,4:8:63.19:63,0,132
2 241534293 . C A 138.56 PASS AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.04;MQ0=0;MQRankSum=0.736;QD=23.09;ReadPosRankSum=-0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAPN10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000432084 GT:AD:DP:GQ:PL 0/1:1,5:6:8.63:168,0,9
2 241534381 rs2975764 A G 381.94 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=60.0;MQ0=0;QD=31.83;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAPN10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000432084 GT:AD:DP:GQ:PL 1/1:0,12:12:36.08:415,36,0
2 241537421 rs3749166 G A 630.11 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=3.727;DB;DP=40;Dels=0.0;FS=1.399;HRun=0;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=0.19;QD=15.75;ReadPosRankSum=0.19;SNPEFF_AMINO_ACID_CHANGE=A465;SNPEFF_CODON_CHANGE=gcG/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_241537305_241537504;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAPN10;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000354082 GT:AD:DP:GQ:PL 0/1:20,20:40:99:660,0,471
2 241538074 rs2975766 A G 185.60 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.93;SNPEFF_AMINO_ACID_CHANGE=I132V;SNPEFF_CODON_CHANGE=Atc/Gtc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_241538068_241538501;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAPN10;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000352879 GT:AD:DP:GQ:PL 1/1:0,6:6:18.05:218,18,0
2 241538229 rs2975767 A G 81.21 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.07;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAPN10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000391982 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:113,9,0
2 241542437 rs7594981 G A 39.62 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=19.81;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAPN10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270361 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:71,6,0
2 241555705 rs2975776 G A 1550.63 PASS AB=0.342;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.071;DB;DP=73;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.37;MQ0=0;MQRankSum=-0.946;QD=21.24;ReadPosRankSum=-0.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAPN10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270364 GT:AD:DP:GQ:PL 0/1:25,48:73:99:1581,0,749
2 241555784 rs12052926 G T 1980.32 PASS AB=0.578;AC=1;AF=0.50;AN=2;BaseQRankSum=7.267;DB;DP=166;Dels=0.0;FS=20.459;HRun=1;HaplotypeScore=0.0;MQ=59.44;MQ0=0;MQRankSum=0.407;QD=11.93;ReadPosRankSum=0.692;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAPN10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270364 GT:AD:DP:GQ:PL 0/1:96,70:166:99:2010,0,2847
2 241555991 rs1509 G T 1730.02 PASS AB=0.456;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.581;DB;DP=114;DS;Dels=0.0;FS=2.956;HRun=0;HaplotypeScore=0.9159;MQ=59.39;MQ0=0;MQRankSum=-0.014;QD=15.18;ReadPosRankSum=-0.153;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAPN10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000270364 GT:AD:DP:GQ:PL 0/1:52,62:114:99:1760,0,1696
2 241569329 rs2975785 A G 290.50 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.35;DB;DP=20;Dels=0.0;FS=1.922;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=0.501;QD=14.52;ReadPosRankSum=0.733;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR35;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000319838 GT:AD:DP:GQ:PL 0/1:8,12:20:99:320,0,202
2 241570249 rs3749172 A C 1177.08 PASS AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.009;DB;DP=114;Dels=0.0;FS=2.482;HRun=3;HaplotypeScore=6.813;MQ=60.0;MQ0=0;MQRankSum=-0.111;QD=10.33;ReadPosRankSum=0.009;SNPEFF_AMINO_ACID_CHANGE=S294R;SNPEFF_CODON_CHANGE=Agt/Cgt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_241569366_241570676;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR35;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000319838 GT:AD:DP:GQ:PL 0/1:60,54:114:99:1207,0,1881
2 241570391 rs2975786 A G 69.04 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.684;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.322;QD=7.67;ReadPosRankSum=-0.684;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR35;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000407714 GT:AD:DP:GQ:PL 0/1:5,4:9:99:99,0,185
2 241618801 rs142021110 G A 164.93 MQFilter40 AB=0.524;AC=1;AF=0.50;AN=2;BaseQRankSum=1.184;DB;DP=21;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=21.88;MQ0=2;MQRankSum=0.694;QD=7.85;ReadPosRankSum=0.367;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=AQP12B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000407834 GT:AD:DP:GQ:PL 0/1:11,10:21:99:195,0,195
2 241621866 rs62187796 C T 393.46 PASS AB=0.292;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.254;DB;DP=24;Dels=0.0;FS=5.076;HRun=0;HaplotypeScore=0.0;MQ=45.14;MQ0=2;MQRankSum=2.272;QD=16.39;ReadPosRankSum=-0.47;SNPEFF_AMINO_ACID_CHANGE=R130H;SNPEFF_CODON_CHANGE=cGc/cAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_241621648_241622317;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=AQP12B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000407834 GT:AD:DP:GQ:PL 0/1:7,17:24:99:423,0,112
2 241621869 rs74882485 G A 98.97 PASS AB=0.739;AC=1;AF=0.50;AN=2;BaseQRankSum=1.855;DB;DP=23;Dels=0.0;FS=7.471;HRun=0;HaplotypeScore=0.0;MQ=47.78;MQ0=0;MQRankSum=-1.995;QD=4.3;ReadPosRankSum=0.105;SNPEFF_AMINO_ACID_CHANGE=T129M;SNPEFF_CODON_CHANGE=aCg/aTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_241621648_241622317;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=AQP12B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000407834 GT:AD:DP:GQ:PL 0/1:17,6:23:99:129,0,426
2 241622034 rs184125501 G C 271.77 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.462;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=47.91;MQ0=1;MQRankSum=0.633;QD=9.06;ReadPosRankSum=0.109;SNPEFF_AMINO_ACID_CHANGE=T74S;SNPEFF_CODON_CHANGE=aCc/aGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_241621648_241622317;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=AQP12B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000407834 GT:AD:DP:GQ:PL 0/1:15,15:30:99:302,0,359
2 241622209 rs4081908 T C 828.45 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=47.95;MQ0=0;QD=28.57;SNPEFF_AMINO_ACID_CHANGE=T16A;SNPEFF_CODON_CHANGE=Acc/Gcc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_241621648_241622317;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=AQP12B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000407834 GT:AD:DP:GQ:PL 1/1:0,29:29:72.19:861,72,0
2 241624664 rs148389432 C A 106.39 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=17.14;MQ0=9;QD=8.18;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC011298.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000407635 GT:AD:DP:GQ:PL 1/1:2,11:13:12.03:139,12,0
2 241624694 rs147460526 T C 42.93 MQFilter40 AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=17.84;MQ0=8;MQRankSum=0.727;QD=3.58;ReadPosRankSum=0.727;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC011298.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000407635 GT:AD:DP:GQ:PL 0/1:6,6:12:21.42:73,0,21
2 241624695 rs143920483 T C 42.93 MQFilter40 AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=17.84;MQ0=8;MQRankSum=0.727;QD=3.58;ReadPosRankSum=0.727;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC011298.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000407635 GT:AD:DP:GQ:PL 0/1:6,6:12:21.42:73,0,21
2 241627928 rs1560619 A G 200.02 PASS AB=0.64;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.259;DB;DP=25;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9159;MQ=59.07;MQ0=0;MQRankSum=-0.484;QD=8.0;ReadPosRankSum=-1.517;SNPEFF_AMINO_ACID_CHANGE=Q38R;SNPEFF_CODON_CHANGE=cAg/cGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_241627833_241627929;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC011298.2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000407635 GT:AD:DP:GQ:PL 0/1:16,9:25:99:230,0,547
2 241631267 rs71428453 A G 208.38 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.715;DB;DP=22;Dels=0.0;FS=2.35;HRun=1;HaplotypeScore=0.0;MQ=55.19;MQ0=1;MQRankSum=-0.449;QD=9.47;ReadPosRankSum=-0.367;SNPEFF_AMINO_ACID_CHANGE=Q2R;SNPEFF_CODON_CHANGE=cAg/cGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_241631262_241631337;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AQP12A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000373309 GT:AD:DP:GQ:PL 0/1:12,10:22:99:238,0,286
2 241631413 rs71428454 T G 266.95 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.246;DB;DP=27;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.8288;MQ=57.01;MQ0=0;MQRankSum=-1.297;QD=9.89;ReadPosRankSum=0.259;SNPEFF_AMINO_ACID_CHANGE=C1G;SNPEFF_CODON_CHANGE=Tgc/Ggc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_241631413_241631938;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AQP12A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000420599 GT:AD:DP:GQ:PL 0/1:15,12:27:99:297,0,429
2 241631476 rs4328629 C G 215.14 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=1.256;DB;DP=14;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=52.23;MQ0=0;MQRankSum=-0.437;QD=15.37;ReadPosRankSum=-0.817;SNPEFF_AMINO_ACID_CHANGE=P22A;SNPEFF_CODON_CHANGE=Ccc/Gcc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_241631413_241631938;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AQP12A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000420599 GT:AD:DP:GQ:PL 0/1:6,8:14:99:245,0,147
2 241631665 rs76463197 C T 259.23 PASS AB=0.64;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.311;DB;DP=25;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=53.53;MQ0=0;MQRankSum=-0.028;QD=10.37;ReadPosRankSum=2.633;SNPEFF_AMINO_ACID_CHANGE=L100;SNPEFF_CODON_CHANGE=Ctg/Ttg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_241631491_241631938;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AQP12A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000337801 GT:AD:DP:GQ:PL 0/1:16,9:25:99:289,0,528
2 241634850 . T C 76.96 MQFilter40 AB=0.654;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.376;DP=26;Dels=0.0;FS=2.363;HRun=0;HaplotypeScore=0.0;MQ=17.13;MQ0=10;MQRankSum=-1.059;QD=2.96;ReadPosRankSum=-0.847;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AQP12A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000337801 GT:AD:DP:GQ:PL 0/1:17,9:26:99:107,0,183
2 241659368 rs6437368 C A 281.65 PASS AB=0.45;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.431;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=59.06;MQ0=0;MQRankSum=1.444;QD=14.08;ReadPosRankSum=1.216;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=KIF1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000404283 GT:AD:DP:GQ:PL 0/1:9,11:20:99:312,0,285
2 241663019 rs2043252 C T 129.87 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.47;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=KIF1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000494452 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:162,12,0
2 241674222 rs3755533 T C 237.05 PASS AB=0.391;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.204;DB;DP=23;Dels=0.0;FS=4.706;HRun=0;HaplotypeScore=0.0;MQ=58.99;MQ0=0;MQRankSum=0.2;QD=10.31;ReadPosRankSum=-1.536;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=KIF1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000320389 GT:AD:DP:GQ:PL 0/1:9,14:23:99:267,0,277
2 241680633 rs4414678 G T 200.76 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=0.354;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=56.95;MQ0=0;MQRankSum=-0.919;QD=14.34;ReadPosRankSum=-1.202;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=KIF1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000320389 GT:AD:DP:GQ:PL 0/1:4,10:14:99:231,0,107
2 241680644 rs1013225 G C 121.28 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=2.667;DB;DP=15;Dels=0.0;FS=0.0;HRun=6;HaplotypeScore=0.8667;MQ=57.16;MQ0=0;MQRankSum=1.6;QD=8.09;ReadPosRankSum=0.533;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=KIF1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000320389 GT:AD:DP:GQ:PL 0/1:10,5:15:99:151,0,242
2 241680802 rs56024577 G A 106.29 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=55.21;MQ0=0;MQRankSum=0.731;QD=21.26;ReadPosRankSum=0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=KIF1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000320389 GT:AD:DP:GQ:PL 0/1:1,4:5:27.18:136,0,27
2 241696840 rs140254058 ATCC A 131.18 PASS AB=0.808;AC=1;AF=0.50;AN=2;BaseQRankSum=1.493;DB;DP=21;FS=6.532;HRun=0;HaplotypeScore=96.7252;IndelType=D;MQ=61.53;MQ0=0;MQRankSum=1.093;QD=6.25;ReadPosRankSum=0.811;SNPEFF_AMINO_ACID_CHANGE=ED917D;SNPEFF_CODON_CHANGE=gaggat/gat;SNPEFF_EFFECT=CODON_CHANGE_PLUS_CODON_DELETION;SNPEFF_EXON_ID=exon_2_241696736_241697011;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=KIF1A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000373308 GT:AD:DP:GQ:PL 0/1:16,5:21:99:170,0,327
2 241702561 rs11688298 T A 168.93 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.036;DB;DP=10;Dels=0.0;FS=3.31;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=2.072;QD=16.89;ReadPosRankSum=-0.741;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=KIF1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000320389 GT:AD:DP:GQ:PL 0/1:4,6:10:99:199,0,119
2 241706227 rs11681427 C T 61.21 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.361;DB;DP=10;Dels=0.0;FS=4.26;HRun=0;HaplotypeScore=0.9469;MQ=60.0;MQ0=0;MQRankSum=-0.729;QD=6.12;ReadPosRankSum=0.729;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=KIF1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463388 GT:AD:DP:GQ:PL 0/1:5,5:10:91.21:91,0,167
2 241722613 rs2288749 A G 85.38 PASS AB=0.692;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.157;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9832;MQ=60.0;MQ0=0;MQRankSum=-1.312;QD=6.1;ReadPosRankSum=-0.54;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=KIF1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000320389 GT:AD:DP:GQ:PL 0/1:9,4:14:99:115,0,291
2 241725637 rs74002922 G A 116.59 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=-1.38;QD=19.43;ReadPosRankSum=-1.38;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=KIF1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000448728 GT:AD:DP:GQ:PL 0/1:2,4:6:21.93:147,0,22
2 241808314 rs34116584 C T 108.67 PASS AB=0.65;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.96;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.933;MQ=57.66;MQ0=0;MQRankSum=-0.754;QD=5.43;ReadPosRankSum=0.352;SNPEFF_AMINO_ACID_CHANGE=P11L;SNPEFF_CODON_CHANGE=cCc/cTc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_241807896_241808447;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGXT;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000307503 GT:AD:DP:GQ:PL 0/1:13,7:20:99:139,0,377
2 241808463 rs66494441 A G 427.81 PASS AB=0.595;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.334;DB;DP=42;Dels=0.0;FS=4.533;HRun=0;HaplotypeScore=1.5661;MQ=53.43;MQ0=0;MQRankSum=0.895;QD=10.19;ReadPosRankSum=1.777;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGXT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307503 GT:AD:DP:GQ:PL 0/1:25,17:42:99:458,0,576
2 241808487 rs57017537 A C 95.25 QDFilter2 AB=0.736;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.104;DB;DP=53;Dels=0.0;FS=20.728;HRun=3;HaplotypeScore=0.7887;MQ=53.9;MQ0=0;MQRankSum=-0.918;QD=1.8;ReadPosRankSum=0.113;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGXT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307503 GT:AD:DP:GQ:PL 0/1:39,14:53:99:125,0,1086
2 241808491 rs58120546 T A 177.42 PASS AB=0.712;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.145;DB;DP=52;Dels=0.0;FS=24.432;HRun=0;HaplotypeScore=0.7887;MQ=53.77;MQ0=0;MQRankSum=-1.023;QD=3.41;ReadPosRankSum=0.238;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGXT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307503 GT:AD:DP:GQ:PL 0/1:37,15:52:99:207,0,1070
2 241808539 . TTGGGGAGG T 184.87 PASS AB=0.882;AC=1;AF=0.50;AN=2;BaseQRankSum=3.816;DP=60;FS=12.412;HRun=0;HaplotypeScore=552.2067;IndelType=D;MQ=55.06;MQ0=0;MQRankSum=-2.533;QD=3.08;ReadPosRankSum=-1.598;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGXT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307503 GT:AD:DP:GQ:PL 0/1:52,8:60:99:224,0,6655
2 241808685 rs35698882 C T 875.66 PASS AB=0.482;AC=1;AF=0.50;AN=2;BaseQRankSum=3.034;DB;DP=56;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7172;MQ=58.84;MQ0=0;MQRankSum=-1.164;QD=15.64;ReadPosRankSum=0.164;SNPEFF_AMINO_ACID_CHANGE=A88;SNPEFF_CODON_CHANGE=gcC/gcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_241808587_241808779;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGXT;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000307503 GT:AD:DP:GQ:PL 0/1:27,29:56:99:906,0,707
2 241808792 rs34995778 C T 199.57 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.952;DB;DP=27;Dels=0.0;FS=4.205;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.746;QD=7.39;ReadPosRankSum=-1.209;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGXT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307503 GT:AD:DP:GQ:PL 0/1:18,9:27:99:230,0,475
2 241809898 rs34134404 C T 49.41 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.7;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGXT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307503 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
2 241812697 rs11687303 G C 34.91 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=11.64;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGXT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307503 GT:AD:DP:GQ:PL 0/1:1,2:3:31.62:65,0,32
2 241813496 rs11693280 C T 427.69 PASS AB=0.36;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.371;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.789;QD=17.11;ReadPosRankSum=0.716;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGXT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472436 GT:AD:DP:GQ:PL 0/1:9,16:25:99:458,0,299
2 241815307 rs12478859 C T 213.87 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.262;DB;DP=26;Dels=0.0;FS=4.193;HRun=0;HaplotypeScore=0.8667;MQ=59.11;MQ0=0;MQRankSum=2.37;QD=8.23;ReadPosRankSum=0.031;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGXT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472436 GT:AD:DP:GQ:PL 0/1:14,12:26:99:244,0,390
2 241815308 rs12464426 A G 188.67 PASS AB=0.519;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.32;DB;DP=27;Dels=0.0;FS=7.06;HRun=0;HaplotypeScore=0.8667;MQ=59.14;MQ0=0;MQRankSum=0.675;QD=6.99;ReadPosRankSum=0.391;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGXT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472436 GT:AD:DP:GQ:PL 0/1:14,13:27:99:219,0,345
2 241815473 rs12695032 G A 165.67 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.466;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.031;QD=13.81;ReadPosRankSum=1.186;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGXT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472436 GT:AD:DP:GQ:PL 0/1:5,7:12:99:196,0,170
2 241815591 rs4675793 C T 163.12 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.03;MQ0=0;QD=23.3;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGXT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472436 GT:AD:DP:GQ:PL 1/1:0,7:7:15.04:196,15,0
2 241817516 rs4426527 A G 204.34 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=0.101;DB;DP=13;Dels=0.0;FS=2.276;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.555;QD=15.72;ReadPosRankSum=-0.101;SNPEFF_AMINO_ACID_CHANGE=I340M;SNPEFF_CODON_CHANGE=atA/atG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_241817439_241817567;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGXT;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000307503 GT:AD:DP:GQ:PL 0/1:6,7:13:99:234,0,201
2 241827676 rs34927891 G A 136.75 PASS AB=0.3;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.58;DB;DP=10;Dels=0.0;FS=3.01;HRun=0;HaplotypeScore=0.0;MQ=57.66;MQ0=0;MQRankSum=-2.166;QD=13.67;ReadPosRankSum=0.296;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf54;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307486 GT:AD:DP:GQ:PL 0/1:3,7:10:99:167,0,101
2 241827696 rs4675869 A G 224.13 PASS AB=0.231;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.099;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9789;MQ=58.2;MQ0=0;MQRankSum=1.437;QD=17.24;ReadPosRankSum=-0.254;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf54;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307486 GT:AD:DP:GQ:PL 0/1:3,10:13:59.92:254,0,60
2 241828034 rs6707568 A G 203.68 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=56.04;MQ0=0;QD=33.95;SNPEFF_AMINO_ACID_CHANGE=L141P;SNPEFF_CODON_CHANGE=cTg/cCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_241827709_241828065;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C2orf54;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000402775 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:237,18,0
2 241865156 rs4675847 T C 390.40 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.53;SNPEFF_AMINO_ACID_CHANGE=C31;SNPEFF_CODON_CHANGE=tgT/tgC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_241865141_241865297;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC104809.3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000430980 GT:AD:DP:GQ:PL 1/1:0,12:12:30.10:423,30,0
2 241871847 rs34726174 G A 87.19 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.06;SNPEFF_AMINO_ACID_CHANGE=G221R;SNPEFF_CODON_CHANGE=Ggg/Agg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_241871735_241871912;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC104809.3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000430980 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:119,9,0
2 241922182 rs4234090 C T 47.34 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=15.78;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC104809.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443866 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:79,6,0
2 241929228 rs10200024 A G 167.03 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.84;SNPEFF_AMINO_ACID_CHANGE=Q203R;SNPEFF_CODON_CHANGE=cAg/cGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_241929071_241929250;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC104809.3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000443866 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:200,15,0
2 241976615 rs71404677 CG C 307.87 PASS AB=0.606;AC=1;AF=0.50;AN=2;BaseQRankSum=0.352;DB;DP=20;FS=2.336;HRun=3;HaplotypeScore=85.5196;IndelType=D;MQ=59.67;MQ0=0;MQRankSum=0.653;QD=15.39;ReadPosRankSum=2.261;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SNED1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310397 GT:AD:DP:GQ:PL 0/1:7,13:20:99:347,0,171
2 241979550 rs7571117 T C 322.34 PASS AB=0.558;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.287;DB;DP=43;Dels=0.0;FS=1.24;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.306;QD=7.5;ReadPosRankSum=-1.357;SNPEFF_AMINO_ACID_CHANGE=N368;SNPEFF_CODON_CHANGE=aaT/aaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_241979492_241979605;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SNED1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000310397 GT:AD:DP:GQ:PL 0/1:24,19:43:99:352,0,762
2 241987554 rs7590504 G A 51.75 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SNED1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310397 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:83,6,0
2 241992016 rs13031812 A G 319.26 PASS AB=0.542;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.406;DB;DP=24;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=56.04;MQ0=0;MQRankSum=1.39;QD=13.3;ReadPosRankSum=0.463;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SNED1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000483962 GT:AD:DP:GQ:PL 0/1:13,11:24:99:349,0,346
2 241992053 rs13004780 G A 194.11 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.15;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=53.52;MQ0=0;MQRankSum=0.0;QD=12.94;ReadPosRankSum=-0.428;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SNED1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000483962 GT:AD:DP:GQ:PL 0/1:7,8:15:99:224,0,224
2 242001991 rs10178146 A G 74.45 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.82;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SNED1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310397 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:106,9,0
2 242002607 rs12995841 C G 36.67 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=47.12;MQ0=0;QD=18.33;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SNED1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310397 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:68,6,0
2 242002828 rs7581709 C T 75.22 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.04;MQ0=0;MQRankSum=-0.72;QD=12.54;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SNED1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310397 GT:AD:DP:GQ:PL 0/1:2,4:6:66.19:105,0,66
2 242004199 rs2286319 G C 116.27 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=2.054;DB;DP=9;Dels=0.0;FS=3.01;HRun=1;HaplotypeScore=0.0;MQ=61.19;MQ0=0;MQRankSum=0.248;QD=12.92;ReadPosRankSum=-1.683;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SNED1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310397 GT:AD:DP:GQ:PL 0/1:3,6:9:79.94:146,0,80
2 242004219 rs11464431 T TG 304.80 PASS AC=2;AF=1.00;AN=2;DB;DP=8;FS=0.0;HRun=1;HaplotypeScore=28.7762;IndelType=I;MQ=61.34;MQ0=0;QD=38.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SNED1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310397 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:347,24,0
2 242009273 rs13000549 G T 143.21 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=2.637;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.186;QD=13.02;ReadPosRankSum=2.359;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SNED1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310397 GT:AD:DP:GQ:PL 0/1:6,5:11:99:173,0,168
2 242011151 rs6760731 A G 186.16 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.95;MQ0=0;QD=23.27;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=MTERFD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464344 GT:AD:DP:GQ:PL 1/1:0,8:8:21.02:219,21,0
2 242028741 rs1062748 A G 178.42 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.656;DB;DP=21;Dels=0.0;FS=12.42;HRun=0;HaplotypeScore=2.5237;MQ=60.0;MQ0=0;MQRankSum=-0.887;QD=8.5;ReadPosRankSum=2.816;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=MTERFD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000414146 GT:AD:DP:GQ:PL 0/1:12,9:21:99:208,0,379
2 242033770 rs2302047 T A 733.74 PASS AB=0.41;AC=1;AF=0.50;AN=2;BaseQRankSum=2.083;DB;DP=39;Dels=0.0;FS=1.52;HRun=0;HaplotypeScore=0.9159;MQ=58.92;MQ0=0;MQRankSum=-0.705;QD=18.81;ReadPosRankSum=1.488;SNPEFF_AMINO_ACID_CHANGE=T114S;SNPEFF_CODON_CHANGE=Aca/Tca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_242033692_242033847;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=MTERFD2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000414146 GT:AD:DP:GQ:PL 0/1:16,23:39:99:764,0,421
2 242054718 rs61748659 G A 1001.51 PASS AB=0.536;AC=1;AF=0.50;AN=2;BaseQRankSum=2.665;DB;DP=69;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.4105;MQ=59.67;MQ0=0;MQRankSum=-0.704;QD=14.51;ReadPosRankSum=1.197;SNPEFF_AMINO_ACID_CHANGE=H1061;SNPEFF_CODON_CHANGE=caC/caT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_242054703_242054828;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PASK;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000234040 GT:AD:DP:GQ:PL 0/1:37,32:69:99:1032,0,1096
2 242062130 rs2302049 C G 200.01 PASS AB=0.78;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.176;DB;DP=50;Dels=0.0;FS=3.845;HRun=0;HaplotypeScore=2.604;MQ=59.54;MQ0=0;MQRankSum=-0.647;QD=4.0;ReadPosRankSum=1.13;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PASK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000459710 GT:AD:DP:GQ:PL 0/1:39,11:50:99:230,0,1095
2 242065601 rs75080735 C T 237.86 PASS AB=0.56;AC=1;AF=0.50;AN=2;BaseQRankSum=1.2;DB;DP=25;Dels=0.0;FS=11.29;HRun=0;HaplotypeScore=0.0;MQ=58.13;MQ0=0;MQRankSum=1.493;QD=9.51;ReadPosRankSum=0.263;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PASK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000459710 GT:AD:DP:GQ:PL 0/1:14,11:25:99:268,0,343
2 242066242 . G C 784.66 PASS AB=0.536;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.468;DP=56;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.59;MQ0=0;MQRankSum=-1.438;QD=14.01;ReadPosRankSum=1.224;SNPEFF_AMINO_ACID_CHANGE=S480;SNPEFF_CODON_CHANGE=tcC/tcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_242065611_242066866;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PASK;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000539818 GT:AD:DP:GQ:PL 0/1:30,26:56:99:815,0,991
2 242066314 rs2240542 T C 1022.66 PASS AB=0.591;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.669;DB;DP=93;Dels=0.0;FS=7.15;HRun=2;HaplotypeScore=1.5782;MQ=59.5;MQ0=0;MQRankSum=0.951;QD=11.0;ReadPosRankSum=1.849;SNPEFF_AMINO_ACID_CHANGE=A456;SNPEFF_CODON_CHANGE=gcA/gcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_242065611_242066866;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PASK;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000539818 GT:AD:DP:GQ:PL 0/1:55,38:93:99:1053,0,1588
2 242075192 rs2108484 A G 130.01 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=0.361;DB;DP=9;Dels=0.0;FS=3.522;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.729;QD=14.45;ReadPosRankSum=2.219;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PASK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000415234 GT:AD:DP:GQ:PL 0/1:4,5:9:99:160,0,120
2 242077496 rs1470414 C T 183.65 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=1.532;DB;DP=12;Dels=0.0;FS=3.424;HRun=0;HaplotypeScore=0.0;MQ=58.43;MQ0=0;MQRankSum=1.408;QD=15.3;ReadPosRankSum=0.143;SNPEFF_AMINO_ACID_CHANGE=V250I;SNPEFF_CODON_CHANGE=Gtc/Atc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_242077368_242077502;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PASK;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000234040 GT:AD:DP:GQ:PL 0/1:5,7:12:99:214,0,148
2 242079007 rs2074828 A G 472.85 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.131;DB;DP=48;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.14;QD=9.85;ReadPosRankSum=-0.527;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PASK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000452907 GT:AD:DP:GQ:PL 0/1:28,20:48:99:503,0,740
2 242082222 rs2074834 C A 186.26 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.929;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.289;QD=15.52;ReadPosRankSum=-0.929;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PASK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234040 GT:AD:DP:GQ:PL 0/1:4,8:12:99:216,0,128
2 242082262 rs6709462 T C 215.26 PASS AB=0.529;AC=1;AF=0.50;AN=2;BaseQRankSum=0.433;DB;DP=17;Dels=0.0;FS=2.077;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.048;QD=12.66;ReadPosRankSum=2.069;SNPEFF_AMINO_ACID_CHANGE=Q11R;SNPEFF_CODON_CHANGE=cAg/cGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_242082252_242082488;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PASK;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000544142 GT:AD:DP:GQ:PL 0/1:9,8:17:99:245,0,257
2 242082480 rs758068 A C 129.01 PASS AB=0.588;AC=1;AF=0.50;AN=2;BaseQRankSum=1.681;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.271;QD=7.59;ReadPosRankSum=0.163;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_2_242082252_242082488;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PASK;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000544142 GT:AD:DP:GQ:PL 0/1:10,7:17:99:159,0,291
2 242082559 rs2066941 T C 76.84 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=15.37;ReadPosRankSum=0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PASK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234040 GT:AD:DP:GQ:PL 0/1:2,3:5:61.24:107,0,61
2 242093144 rs11884809 T C 66.96 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.406;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.406;QD=11.16;ReadPosRankSum=0.406;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPP1R7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000234038 GT:AD:DP:GQ:PL 0/1:3,3:6:96.95:97,0,98
2 242098426 rs6753081 T A 201.67 PASS AB=0.632;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.479;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.53;MQ0=0;MQRankSum=0.803;QD=10.61;ReadPosRankSum=0.972;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPP1R7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473017 GT:AD:DP:GQ:PL 0/1:12,7:19:99:232,0,385
2 242099961 rs2017989 C T 438.81 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.2;MQ0=0;QD=33.75;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPP1R7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427172 GT:AD:DP:GQ:PL 1/1:0,13:13:36.09:472,36,0
2 242100062 rs11676460 A G 106.99 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.38;QD=17.83;ReadPosRankSum=-0.72;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPP1R7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427172 GT:AD:DP:GQ:PL 0/1:2,4:6:65.46:137,0,65
2 242129487 rs11695874 G T 144.89 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.92;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.684;QD=18.11;ReadPosRankSum=0.322;SNPEFF_AMINO_ACID_CHANGE=R57;SNPEFF_CODON_CHANGE=cgG/cgT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_242129472_242129586;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANO7;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000274979 GT:AD:DP:GQ:PL 0/1:3,5:8:65.93:175,0,66
2 242129769 rs4675985 T G 31.85 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=7.96;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANO7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000274979 GT:AD:DP:GQ:PL 0/1:1,3:4:31.62:62,0,32
2 242135017 rs12694996 A C 318.69 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.41;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANO7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000274979 GT:AD:DP:GQ:PL 1/1:0,9:9:27.08:352,27,0
2 242138912 rs34107209 C T 32.47 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=1.92;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.221;QD=4.06;ReadPosRankSum=-0.684;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANO7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000402530 GT:AD:DP:GQ:PL 0/1:5,3:8:62.46:62,0,155
2 242139491 rs2013250 C T 580.83 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.78;MQ0=0;QD=30.57;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANO7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000402530 GT:AD:DP:GQ:PL 1/1:0,19:19:45.15:614,45,0
2 242140785 rs78154103 C G 385.59 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.24;DB;DP=40;Dels=0.0;FS=1.496;HRun=0;HaplotypeScore=0.9916;MQ=58.84;MQ0=0;MQRankSum=0.687;QD=9.64;ReadPosRankSum=0.657;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANO7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475532 GT:AD:DP:GQ:PL 0/1:24,16:40:99:416,0,687
2 242141719 rs2074840 C T 491.33 PASS AB=0.524;AC=1;AF=0.50;AN=2;BaseQRankSum=1.529;DB;DP=42;Dels=0.0;FS=1.286;HRun=0;HaplotypeScore=0.8321;MQ=59.45;MQ0=0;MQRankSum=0.562;QD=11.7;ReadPosRankSum=-0.745;SNPEFF_AMINO_ACID_CHANGE=D294;SNPEFF_CODON_CHANGE=gaC/gaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_242141609_242141719;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANO7;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000402430 GT:AD:DP:GQ:PL 0/1:22,20:42:99:521,0,596
2 242142737 rs1179530 T C 175.98 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.33;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANO7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475532 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:209,15,0
2 242149010 rs57677160 C T 70.10 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=2.313;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.437;QD=5.39;ReadPosRankSum=0.212;SNPEFF_AMINO_ACID_CHANGE=A493V;SNPEFF_CODON_CHANGE=gCg/gTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_242148913_242149050;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANO7;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000402430 GT:AD:DP:GQ:PL 0/1:8,5:13:99:100,0,232
2 242149073 rs10192730 G A 316.67 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.67;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANO7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000274979 GT:AD:DP:GQ:PL 1/1:0,10:10:27.09:350,27,0
2 242151585 rs7593101 C T 1071.25 PASS AB=0.486;AC=1;AF=0.50;AN=2;BaseQRankSum=2.881;DB;DP=72;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=-0.983;QD=14.88;ReadPosRankSum=0.029;SNPEFF_AMINO_ACID_CHANGE=Y599;SNPEFF_CODON_CHANGE=taC/taT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_242151509_242151620;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANO7;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000402430 GT:AD:DP:GQ:PL 0/1:35,37:72:99:1101,0,1084
2 242163538 rs115620538 G A 375.55 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=0.495;DB;DP=22;Dels=0.0;FS=1.74;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.824;QD=17.07;ReadPosRankSum=1.22;SNPEFF_AMINO_ACID_CHANGE=T924;SNPEFF_CODON_CHANGE=acG/acA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_242163512_242164791;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANO7;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000274979 GT:AD:DP:GQ:PL 0/1:10,12:22:99:406,0,271
2 242176019 rs2305073 T C 322.81 PASS AB=0.585;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.813;DB;DP=41;Dels=0.0;FS=3.091;HRun=0;HaplotypeScore=0.0;MQ=59.44;MQ0=0;MQRankSum=1.099;QD=7.87;ReadPosRankSum=-0.814;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HDLBP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000452931 GT:AD:DP:GQ:PL 0/1:24,17:41:99:353,0,718
2 242189231 rs12475607 T C 432.52 PASS AB=0.481;AC=1;AF=0.50;AN=2;BaseQRankSum=1.626;DB;DP=27;Dels=0.0;FS=1.882;HRun=1;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=0.315;QD=16.02;ReadPosRankSum=0.51;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HDLBP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467435 GT:AD:DP:GQ:PL 0/1:13,14:27:99:463,0,461
2 242203776 rs71933081 C CA 197.36 PASS AB=0.788;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.708;DB;DP=26;FS=0.0;HRun=14;HaplotypeScore=155.3104;IndelType=I;MQ=50.96;MQ0=0;MQRankSum=-1.508;QD=7.59;ReadPosRankSum=-0.4;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HDLBP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000417540 GT:AD:DP:GQ:PL 0/1:16,7:26:99:236,0,103
2 242203916 rs11891776 A C 4267.66 PASS AC=2;AF=1.00;AN=2;DB;DP=135;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=58.27;MQ0=0;QD=31.61;SNPEFF_AMINO_ACID_CHANGE=S61A;SNPEFF_CODON_CHANGE=Tct/Gct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_242203863_242204020;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HDLBP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000310931 GT:AD:DP:GQ:PL 1/1:0,135:135:99:4268,328,0
2 242204175 rs3771344 A G 178.77 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.572;DB;DP=8;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.067;QD=22.35;ReadPosRankSum=1.067;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HDLBP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000417540 GT:AD:DP:GQ:PL 0/1:2,6:8:57.47:209,0,57
2 242259614 rs6745662 G A 671.74 PASS AB=0.425;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.958;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9867;MQ=58.84;MQ0=0;MQRankSum=0.109;QD=16.79;ReadPosRankSum=0.246;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SEPT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484648 GT:AD:DP:GQ:PL 0/1:17,23:40:99:702,0,513
2 242265273 rs4234100 C T 159.46 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=1.408;DB;DP=11;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.387;QD=14.5;ReadPosRankSum=-0.717;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SEPT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461048 GT:AD:DP:GQ:PL 0/1:5,6:11:99:189,0,177
2 242265313 rs12477089 C A 280.21 PASS AB=0.421;AC=1;AF=0.50;AN=2;BaseQRankSum=0.289;DB;DP=19;Dels=0.0;FS=2.199;HRun=4;HaplotypeScore=0.9998;MQ=60.0;MQ0=0;MQRankSum=-0.289;QD=14.75;ReadPosRankSum=0.372;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SEPT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461048 GT:AD:DP:GQ:PL 0/1:8,11:19:99:310,0,245
2 242283071 rs6750169 C T 2539.24 PASS AB=0.475;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.054;DB;DP=162;Dels=0.0;FS=1.71;HRun=0;HaplotypeScore=1.8279;MQ=60.0;MQ0=0;MQRankSum=0.337;QD=15.67;ReadPosRankSum=-0.632;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SEPT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000428282 GT:AD:DP:GQ:PL 0/1:77,85:162:99:2569,0,2414
2 242283094 rs6707518 A G 3147.91 PASS AB=0.456;AC=1;AF=0.50;AN=2;BaseQRankSum=3.967;DB;DP=207;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.655;MQ=59.67;MQ0=0;MQRankSum=-2.147;QD=15.21;ReadPosRankSum=0.349;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SEPT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000428282 GT:AD:DP:GQ:PL 0/1:94,112:207:99:3178,0,2833
2 242285545 rs11683764 A G 248.37 PASS AB=0.677;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.157;DB;DP=31;Dels=0.0;FS=8.538;HRun=0;HaplotypeScore=0.0;MQ=59.25;MQ0=0;MQRankSum=-0.022;QD=8.01;ReadPosRankSum=-0.242;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SEPT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000428282 GT:AD:DP:GQ:PL 0/1:21,10:31:99:278,0,661
2 242343404 rs3732276 C T 54.69 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.546;QD=5.47;ReadPosRankSum=0.296;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FARP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000445489 GT:AD:DP:GQ:PL 0/1:7,3:10:84.69:85,0,227
2 242344333 rs11681497 A G 599.86 PASS AB=0.346;AC=1;AF=0.50;AN=2;BaseQRankSum=3.881;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.539;QD=23.07;ReadPosRankSum=1.24;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FARP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000445489 GT:AD:DP:GQ:PL 0/1:9,17:26:99:630,0,276
2 242352581 rs144340200 T C 91.02 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=0.922;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.922;QD=10.11;ReadPosRankSum=-1.368;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FARP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264042 GT:AD:DP:GQ:PL 0/1:5,4:9:99:121,0,133
2 242352633 . A AT 158.26 PASS AB=0.742;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.126;DP=23;FS=0.0;HRun=9;HaplotypeScore=63.6238;IndelType=I;MQ=60.47;MQ0=0;MQRankSum=-0.648;QD=6.88;ReadPosRankSum=0.921;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FARP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264042 GT:AD:DP:GQ:PL 0/1:15,8:23:99:197,0,297
2 242371101 rs757978 C T 787.32 PASS AB=0.341;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.389;DB;DP=44;Dels=0.0;FS=2.749;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.089;QD=17.89;ReadPosRankSum=0.166;SNPEFF_AMINO_ACID_CHANGE=T260I;SNPEFF_CODON_CHANGE=aCc/aTc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_242371094_242371189;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FARP2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000264042 GT:AD:DP:GQ:PL 0/1:15,29:44:99:817,0,403
2 242374453 rs145392931 C T 413.93 PASS AB=0.486;AC=1;AF=0.50;AN=2;BaseQRankSum=3.08;DB;DP=35;Dels=0.0;FS=7.574;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.414;QD=11.83;ReadPosRankSum=-0.342;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FARP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471447 GT:AD:DP:GQ:PL 0/1:17,18:35:99:444,0,568
2 242375813 rs7601738 A T 884.85 PASS AB=0.491;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.738;DB;DP=57;Dels=0.0;FS=2.136;HRun=1;HaplotypeScore=0.0;MQ=59.6;MQ0=0;MQRankSum=1.125;QD=15.52;ReadPosRankSum=1.668;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FARP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471447 GT:AD:DP:GQ:PL 0/1:28,29:57:99:915,0,933
2 242407588 rs41342147 G A 2879.02 PASS AB=0.48;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.871;DB;DP=196;Dels=0.0;FS=6.579;HRun=0;HaplotypeScore=0.9789;MQ=59.53;MQ0=0;MQRankSum=0.215;QD=14.69;ReadPosRankSum=0.705;SNPEFF_AMINO_ACID_CHANGE=V643I;SNPEFF_CODON_CHANGE=Gtc/Atc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_242407555_242407792;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FARP2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000264042 GT:AD:DP:GQ:PL 0/1:94,102:196:99:2909,0,2948
2 242433348 rs2018761 A G 864.53 PASS AB=0.404;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.285;DB;DP=57;Dels=0.0;FS=1.098;HRun=0;HaplotypeScore=0.0;MQ=59.16;MQ0=0;MQRankSum=0.057;QD=15.17;ReadPosRankSum=0.464;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FARP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000486736 GT:AD:DP:GQ:PL 0/1:23,34:57:99:895,0,711
2 242435042 rs35393467 C T 322.72 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.176;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.29;MQ0=0;MQRankSum=1.129;QD=10.76;ReadPosRankSum=-1.223;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FARP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264042 GT:AD:DP:GQ:PL 0/1:18,12:30:99:353,0,546
2 242511547 rs6757912 T C 167.60 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.52;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BOK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318407 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:200,15,0
2 242523923 rs144402439 C G 550.09 PASS AB=0.438;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.14;DB;DP=32;Dels=0.0;FS=2.071;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.421;QD=17.19;ReadPosRankSum=0.62;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=THAP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000321679 GT:AD:DP:GQ:PL 0/1:14,18:32:99:580,0,426
2 242542298 rs6437269 T C 562.50 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.16;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=THAP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000402136 GT:AD:DP:GQ:PL 1/1:0,15:16:45.14:596,45,0
2 242556732 rs7580021 G A 1963.83 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.672;DB;DP=57;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.8941;MQ=59.6;MQ0=0;MQRankSum=0.03;QD=34.45;ReadPosRankSum=-0.881;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=THAP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000402136 GT:AD:DP:GQ:PL 1/1:1,56:57:99:1997,133,0
2 242557019 rs7580246 G A 576 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.75;MQ0=0;QD=38.4;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=THAP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000407315 GT:AD:DP:GQ:PL 1/1:0,15:15:45.15:609,45,0
2 242557028 rs36043566 G C 426.35 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.43;MQ0=0;QD=35.53;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=THAP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000407315 GT:AD:DP:GQ:PL 1/1:0,12:12:36.09:459,36,0
2 242572846 rs3208142 A G 1403 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.81;MQ0=0;QD=32.63;SNPEFF_AMINO_ACID_CHANGE=S242;SNPEFF_CODON_CHANGE=tcT/tcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_242572332_242573494;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=THAP4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000407315 GT:AD:DP:GQ:PL 1/1:0,43:43:99:1436,111,0
2 242573211 rs7424328 T C 854.75 PASS AB=0.588;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.626;DB;DP=68;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.4105;MQ=59.11;MQ0=0;MQRankSum=-0.779;QD=12.57;ReadPosRankSum=0.978;SNPEFF_AMINO_ACID_CHANGE=S121G;SNPEFF_CODON_CHANGE=Agc/Ggc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_242572332_242573494;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=THAP4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000407315 GT:AD:DP:GQ:PL 0/1:40,28:68:99:885,0,1124
2 242590338 rs35731596 A G 1103.79 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.368;DB;DP=39;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.274;QD=28.3;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATG4B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000337606 GT:AD:DP:GQ:PL 1/1:1,38:39:59.61:1137,60,0
2 242593703 rs6437274 A G 49.30 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.65;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATG4B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000415107 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
2 242593856 . AAG A 44.87 QDFilter2 AB=0.86;AC=1;AF=0.50;AN=2;BaseQRankSum=3.005;DP=37;FS=0.0;HRun=0;HaplotypeScore=409.3247;IndelType=D;MQ=43.42;MQ0=0;MQRankSum=-3.223;QD=1.21;ReadPosRankSum=2.136;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATG4B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000415107 GT:AD:DP:GQ:PL 0/1:31,6:37:83.90:84,0,183
2 242606036 rs6709768 G C 3524.40 PASS AC=2;AF=1.00;AN=2;DB;DP=102;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9469;MQ=60.0;MQ0=0;QD=34.55;SNPEFF_AMINO_ACID_CHANGE=S9T;SNPEFF_CODON_CHANGE=aGt/aCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_242606011_242606253;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATG4B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000428861 GT:AD:DP:GQ:PL 1/1:0,102:102:99:3524,262,0
2 242607483 rs77179275 G T 230.64 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.95;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATG4B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000429899 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:264,21,0
2 242607484 rs7592829 C T 215.08 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.73;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATG4B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000429899 GT:AD:DP:GQ:PL 1/1:0,7:7:21.06:248,21,0
2 242610253 rs35454903 T C 510.70 PASS AB=0.476;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.118;DB;DP=42;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.45;MQ0=0;MQRankSum=0.869;QD=12.16;ReadPosRankSum=-0.013;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATG4B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000400771 GT:AD:DP:GQ:PL 0/1:20,22:42:99:541,0,688
2 242610405 rs7584112 C T 117.41 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.48;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATG4B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000400771 GT:AD:DP:GQ:PL 1/1:0,5:5:12.03:150,12,0
2 242610773 rs7601000 T A 1071.21 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.46;SNPEFF_AMINO_ACID_CHANGE=L191Q;SNPEFF_CODON_CHANGE=cTg/cAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_242610727_242610781;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATG4B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000428861 GT:AD:DP:GQ:PL 1/1:0,33:33:81.27:1104,81,0
2 242615462 rs5860 T C 52.75 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=51.77;MQ0=0;QD=17.58;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATG4B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000311517 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:84,6,0
2 242617792 rs4076640 A G 650.30 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.56;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATG4B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000311517 GT:AD:DP:GQ:PL 1/1:0,22:22:60.17:683,60,0
2 242618050 rs1131195 A G 1252.28 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.51;MQ0=0;QD=32.95;SNPEFF_AMINO_ACID_CHANGE=D115;SNPEFF_CODON_CHANGE=gaT/gaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_242617867_242618064;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DTYMK;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000305784 GT:AD:DP:GQ:PL 1/1:0,38:38:93.29:1285,93,0
2 242648545 rs7595652 C T 454.46 PASS AB=0.578;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.322;DB;DP=45;Dels=0.0;FS=7.71;HRun=0;HaplotypeScore=0.0;MQ=59.49;MQ0=0;MQRankSum=-0.142;QD=10.1;ReadPosRankSum=-2.038;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ING5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313552 GT:AD:DP:GQ:PL 0/1:26,19:45:99:484,0,872
2 242648549 rs7568408 G A 528.43 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=0.646;DB;DP=52;Dels=0.0;FS=1.936;HRun=0;HaplotypeScore=0.0;MQ=59.56;MQ0=0;MQRankSum=0.916;QD=10.16;ReadPosRankSum=-0.511;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ING5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313552 GT:AD:DP:GQ:PL 0/1:32,20:52:99:558,0,1047
2 242662761 rs7572153 T C 1902.51 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9933;MQ=59.31;MQ0=0;QD=28.4;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ING5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000445620 GT:AD:DP:GQ:PL 1/1:0,67:67:99:1936,168,0
2 242674959 rs62191977 T G 359.66 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.67;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=D2HGDH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000321264 GT:AD:DP:GQ:PL 1/1:0,13:13:33.08:393,33,0
2 242680366 rs4073890 A G 169.93 PASS AB=0.143;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.742;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.742;QD=24.28;ReadPosRankSum=0.742;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=D2HGDH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463932 GT:AD:DP:GQ:PL 0/1:1,6:7:18.94:200,0,19
2 242680430 rs4073889 A G 227.80 PASS AB=0.308;AC=1;AF=0.50;AN=2;BaseQRankSum=2.7;DB;DP=13;Dels=0.0;FS=2.158;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.54;QD=17.52;ReadPosRankSum=-0.849;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=D2HGDH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463932 GT:AD:DP:GQ:PL 0/1:4,9:13:88.75:258,0,89
2 242684115 rs4234097 T C 709.16 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.261;DB;DP=36;Dels=0.0;FS=10.836;HRun=0;HaplotypeScore=0.0;MQ=59.36;MQ0=0;MQRankSum=1.226;QD=19.7;ReadPosRankSum=0.551;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=D2HGDH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000321264 GT:AD:DP:GQ:PL 0/1:12,24:36:99:739,0,306
2 242684394 rs4675884 G C 236.52 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=6;HaplotypeScore=1.891;MQ=53.03;MQ0=0;QD=16.89;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=D2HGDH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000321264 GT:AD:DP:GQ:PL 1/1:0,14:14:24.04:269,24,0
2 242688203 rs34519321 C T 378.66 PASS AB=0.531;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.264;DB;DP=33;Dels=0.0;FS=1.523;HRun=0;HaplotypeScore=0.7887;MQ=56.55;MQ0=0;MQRankSum=0.264;QD=11.47;ReadPosRankSum=-0.189;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=D2HGDH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000321264 GT:AD:DP:GQ:PL 0/1:17,15:33:99:409,0,499
2 242688292 rs34767042 C T 316.46 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.759;DB;DP=39;Dels=0.0;FS=3.796;HRun=0;HaplotypeScore=2.4441;MQ=57.59;MQ0=0;MQRankSum=0.798;QD=8.11;ReadPosRankSum=1.693;SNPEFF_AMINO_ACID_CHANGE=P289L;SNPEFF_CODON_CHANGE=cCg/cTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_242688280_242688357;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=D2HGDH;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000342518 GT:AD:DP:GQ:PL 0/1:26,13:39:99:346,0,459
2 242688366 rs35386923 C T 154.01 PASS AB=0.529;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.395;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-2.069;QD=9.06;ReadPosRankSum=1.588;SNPEFF_AMINO_ACID_CHANGE=Q314*;SNPEFF_CODON_CHANGE=Cag/Tag;SNPEFF_EFFECT=STOP_GAINED;SNPEFF_EXON_ID=exon_2_242688280_242688529;SNPEFF_FUNCTIONAL_CLASS=NONSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=D2HGDH;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000537090 GT:AD:DP:GQ:PL 0/1:9,8:17:99:184,0,305
2 242707101 rs6756901 A G 147.56 PASS AB=0.708;AC=1;AF=0.50;AN=2;BaseQRankSum=1.461;DB;DP=24;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.699;QD=6.15;ReadPosRankSum=1.207;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=D2HGDH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000321264 GT:AD:DP:GQ:PL 0/1:17,7:24:99:178,0,575
2 242716380 rs12469459 A T 138.51 PASS AB=0.647;AC=1;AF=0.50;AN=2;BaseQRankSum=0.955;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9933;MQ=60.0;MQ0=0;MQRankSum=1.357;QD=8.15;ReadPosRankSum=0.352;SNPEFF_AMINO_ACID_CHANGE=M4L;SNPEFF_CODON_CHANGE=Atg/Ttg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_242716240_242716399;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GAL3ST2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000192314 GT:AD:DP:GQ:PL 0/1:11,6:17:99:168,0,303
2 242742653 rs78145032 T G 47.39 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.69;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GAL3ST2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000192314 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
2 242742875 rs62620233 C T 44.52 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.58;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.11;MQ0=0;MQRankSum=0.296;QD=4.45;ReadPosRankSum=-0.296;SNPEFF_AMINO_ACID_CHANGE=A164V;SNPEFF_CODON_CHANGE=gCc/gTc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_242742760_242743623;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GAL3ST2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000192314 GT:AD:DP:GQ:PL 0/1:7,3:10:74.51:75,0,245
2 242755100 rs11693567 G A 51.75 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.87;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEU4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000494678 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:83,6,0
2 242757820 rs11545301 G A 461.02 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.55;MQ0=0;QD=28.81;SNPEFF_AMINO_ACID_CHANGE=G301R;SNPEFF_CODON_CHANGE=Ggg/Agg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_242757377_242758734;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEU4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000391969 GT:AD:DP:GQ:PL 1/1:0,16:16:39.09:494,39,0
2 242793273 rs2227981 A G 305.39 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.54;SNPEFF_AMINO_ACID_CHANGE=A268;SNPEFF_CODON_CHANGE=gcT/gcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_242792033_242793449;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDCD1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000334409 GT:AD:DP:GQ:PL 1/1:0,10:10:27.08:338,27,0
2 242793559 rs6705653 T C 141.41 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.28;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDCD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334409 GT:AD:DP:GQ:PL 1/1:0,5:5:15.04:174,15,0
2 242814009 rs7420371 G A 37.76 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=12.59;ReadPosRankSum=-0.736;SNPEFF_AMINO_ACID_CHANGE=G101E;SNPEFF_CODON_CHANGE=gGg/gAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_2_242813866_242815975;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=C2orf85;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000343216 GT:AD:DP:GQ:PL 0/1:1,2:3:31.62:68,0,32
2 242836535 rs28559662 A G 305.67 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.79;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC131097.4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401641 GT:AD:DP:GQ:PL 1/1:0,11:11:27.08:339,27,0
2 242839614 rs13025557 T G 808.03 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=58.89;MQ0=0;QD=38.48;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC131097.4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401641 GT:AD:DP:GQ:PL 1/1:0,21:21:63.19:841,63,0
2 243006046 rs71954419 GGAGGACACCAACAAT G 551.22 PASS AC=2;AF=1.00;AN=2;DB;DP=10;FS=0.0;HRun=0;HaplotypeScore=146.3035;IndelType=D;MQ=45.5;MQ0=0;QD=55.12;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=AC093642.6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000446593 GT:AD:DP:GQ:PL 1/1:3,7:10:21.07:593,21,0
3 361508 rs2272522 C T 480.05 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=1.781;DB;DP=28;Dels=0.0;FS=5.891;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.268;QD=17.14;ReadPosRankSum=0.317;SNPEFF_AMINO_ACID_CHANGE=L17F;SNPEFF_CODON_CHANGE=Ctc/Ttc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_361366_361550;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHL1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000256509 GT:AD:DP:GQ:PL 0/1:12,16:28:99:510,0,312
3 367757 rs162734 G C 402.20 PASS AB=0.581;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.582;DB;DP=31;Dels=0.0;FS=2.071;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.18;QD=12.97;ReadPosRankSum=-1.221;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427688 GT:AD:DP:GQ:PL 0/1:18,13:31:99:432,0,554
3 367825 rs13073026 G T 143.46 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.92;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.684;QD=17.93;ReadPosRankSum=-0.684;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427688 GT:AD:DP:GQ:PL 0/1:3,5:8:99:173,0,103
3 370051 rs62227239 C T 962.95 PASS AB=0.456;AC=1;AF=0.50;AN=2;BaseQRankSum=4.142;DB;DP=57;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.072;QD=16.89;ReadPosRankSum=-1.001;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421198 GT:AD:DP:GQ:PL 0/1:26,31:57:99:993,0,741
3 383936 rs9877555 T C 53 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.5;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000435603 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
3 386520 rs1499046 C T 458.35 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.47;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=-0.935;QD=35.26;ReadPosRankSum=1.47;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000435603 GT:AD:DP:GQ:PL 1/1:1,12:13:36.12:491,36,0
3 390869 rs11706228 T C 45.13 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=51.77;MQ0=0;QD=15.04;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256509 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:76,6,0
3 391100 rs13060847 A G 1668.87 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.05;MQ0=0;QD=34.06;SNPEFF_AMINO_ACID_CHANGE=T287A;SNPEFF_CODON_CHANGE=Aca/Gca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_391042_391226;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHL1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000397491 GT:AD:DP:GQ:PL 1/1:0,49:49:99:1702,129,0
3 391352 . G A 31.96 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.72;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.72;QD=5.33;ReadPosRankSum=0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256509 GT:AD:DP:GQ:PL 0/1:4,2:6:61.95:62,0,146
3 396116 rs113875978 GCACA G 448.86 PASS AC=2;AF=1.00;AN=2;DB;DP=12;FS=0.0;HRun=0;HaplotypeScore=64.4562;IndelType=D;MQ=59.89;MQ0=0;QD=37.4;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256509 GT:AD:DP:GQ:PL 1/1:2,10:12:30.10:491,30,0
3 403288 rs9824311 G A 1110.17 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.9;MQ0=0;QD=38.28;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256509 GT:AD:DP:GQ:PL 1/1:0,29:29:87.28:1143,87,0
3 403297 rs9839027 C A 1221.82 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.04;MQ0=0;QD=33.94;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256509 GT:AD:DP:GQ:PL 1/1:0,36:36:99:1255,99,0
3 403308 rs9824442 G A 1364.39 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.45;MQ0=0;QD=34.11;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256509 GT:AD:DP:GQ:PL 1/1:0,40:40:99:1397,108,0
3 403345 rs9846775 A G 2177.83 PASS AC=2;AF=1.00;AN=2;DB;DP=71;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9983;MQ=57.75;MQ0=0;QD=30.67;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256509 GT:AD:DP:GQ:PL 1/1:0,71:71:99:2211,187,0
3 404771 rs4684390 C T 156.65 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.33;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256509 GT:AD:DP:GQ:PL 1/1:0,5:5:15.04:189,15,0
3 405202 rs2387180 A T 366.22 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.62;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471332 GT:AD:DP:GQ:PL 1/1:0,10:10:30.10:399,30,0
3 417994 rs930237 A G 1092.57 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;QD=28.75;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256509 GT:AD:DP:GQ:PL 1/1:0,38:38:93.25:1126,93,0
3 439963 rs6442827 A G 1122.30 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.34;MQ0=0;QD=32.07;SNPEFF_AMINO_ACID_CHANGE=I1034V;SNPEFF_CODON_CHANGE=Ata/Gta;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_439910_440068;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHL1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000397491 GT:AD:DP:GQ:PL 1/1:0,35:35:84.28:1155,84,0
3 440028 rs6771714 T C 1504.02 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.05;MQ0=0;QD=30.69;SNPEFF_AMINO_ACID_CHANGE=N1055;SNPEFF_CODON_CHANGE=aaT/aaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_439910_440068;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHL1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000397491 GT:AD:DP:GQ:PL 1/1:0,49:49:99:1537,117,0
3 440088 rs6771803 T A 1161.99 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.32;MQ0=0;QD=34.18;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256509 GT:AD:DP:GQ:PL 1/1:0,34:34:87.29:1195,87,0
3 440946 rs2387184 G A 324.22 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.02;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000453040 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:357,27,0
3 440977 rs2387185 G A 209.11 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.85;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000453040 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:242,18,0
3 447069 rs11705894 C T 420.82 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256509 GT:AD:DP:GQ:PL 1/1:0,11:11:33.11:454,33,0
3 1262474 rs2013828 T C 1277.93 PASS AB=0.395;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.776;DB;DP=81;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=59.43;MQ0=0;MQRankSum=0.8;QD=15.78;ReadPosRankSum=-0.614;SNPEFF_AMINO_ACID_CHANGE=N53;SNPEFF_CODON_CHANGE=aaT/aaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_1262371_1262497;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNTN6;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000350110 GT:AD:DP:GQ:PL 0/1:32,49:81:99:1308,0,982
3 1269483 . AT A 566.22 PASS AB=0.633;AC=1;AF=0.50;AN=2;BaseQRankSum=3.912;DP=50;FS=2.79;HRun=10;HaplotypeScore=148.2345;IndelType=D;MQ=60.22;MQ0=0;MQRankSum=-0.236;QD=11.32;ReadPosRankSum=-0.039;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNTN6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000350110 GT:AD:DP:GQ:PL 0/1:21,29:50:99:605,0,532
3 1320271 rs3732517 G A 488.69 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.102;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.71;MQ0=0;MQRankSum=0.102;QD=27.15;ReadPosRankSum=0.102;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNTN6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000350110 GT:AD:DP:GQ:PL 1/1:1,17:18:3.89:519,4,0
3 1337203 rs565499 A G 239.75 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.25;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNTN6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000350110 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:273,21,0
3 1424718 rs2291101 G A 686.81 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.149;DB;DP=45;Dels=0.0;FS=2.696;HRun=0;HaplotypeScore=3.6471;MQ=59.8;MQ0=0;MQRankSum=0.193;QD=15.26;ReadPosRankSum=2.832;SNPEFF_AMINO_ACID_CHANGE=V681;SNPEFF_CODON_CHANGE=gtG/gtA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_1424626_1424860;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNTN6;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000539053 GT:AD:DP:GQ:PL 0/1:21,24:45:99:717,0,693
3 1424850 rs2291100 T G 844.55 PASS AB=0.537;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.162;DB;DP=67;Dels=0.0;FS=3.735;HRun=4;HaplotypeScore=1.9367;MQ=60.0;MQ0=0;MQRankSum=-0.773;QD=12.61;ReadPosRankSum=0.861;SNPEFF_AMINO_ACID_CHANGE=S725;SNPEFF_CODON_CHANGE=tcT/tcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_1424626_1424860;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNTN6;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000539053 GT:AD:DP:GQ:PL 0/1:36,31:67:99:875,0,1222
3 1427079 rs12487202 C A 230.22 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.62;MQ0=0;QD=32.89;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNTN6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000350110 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:263,21,0
3 1427204 rs3902441 T A 482 PASS AB=0.574;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.42;DB;DP=47;Dels=0.0;FS=7.551;HRun=0;HaplotypeScore=0.734;MQ=50.41;MQ0=0;MQRankSum=-5.239;QD=10.26;ReadPosRankSum=1.947;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNTN6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000350110 GT:AD:DP:GQ:PL 0/1:27,20:47:99:512,0,967
3 1427206 . CTTGTGG C 1161.64 PASS AB=0.701;AC=1;AF=0.50;AN=2;BaseQRankSum=5.75;DP=47;FS=7.362;HRun=0;HaplotypeScore=355.4238;IndelType=D;MQ=50.41;MQ0=0;MQRankSum=-5.196;QD=24.72;ReadPosRankSum=2.249;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNTN6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000350110 GT:AD:DP:GQ:PL 0/1:27,20:47:99:1201,0,2536
3 1444243 rs13326014 A G 33.19 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=5.53;ReadPosRankSum=0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNTN6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000350110 GT:AD:DP:GQ:PL 0/1:4,2:6:63.18:63,0,125
3 2613001 rs2616585 A G 42.59 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.29;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNTN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397461 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:74,6,0
3 2671394 rs115067365 A G 108.28 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=0.198;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.198;QD=15.47;ReadPosRankSum=-0.198;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNTN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397461 GT:AD:DP:GQ:PL 0/1:2,5:7:64.35:138,0,64
3 2777622 rs1554198 A G 3462.24 PASS AC=2;AF=1.00;AN=2;DB;DP=104;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9894;MQ=59.33;MQ0=0;QD=33.29;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNTN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397461 GT:AD:DP:GQ:PL 1/1:0,104:104:99:3462,265,0
3 2787532 rs4685547 A G 52.22 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.11;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNTN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000422330 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:83,6,0
3 2908335 rs6442761 A G 322.40 PASS AB=0.231;AC=1;AF=0.50;AN=2;BaseQRankSum=0.592;DB;DP=13;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.268;QD=24.8;ReadPosRankSum=-0.592;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNTN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358480 GT:AD:DP:GQ:PL 0/1:3,10:13:83.18:352,0,83
3 2967186 rs1967176 A G 210.09 PASS AB=0.438;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.752;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.9933;MQ=58.55;MQ0=0;MQRankSum=1.27;QD=13.13;ReadPosRankSum=0.318;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNTN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358480 GT:AD:DP:GQ:PL 0/1:7,9:16:99:240,0,221
3 3067850 rs7629924 A G 504.23 PASS AB=0.484;AC=1;AF=0.50;AN=2;BaseQRankSum=1.917;DB;DP=31;Dels=0.0;FS=1.4;HRun=0;HaplotypeScore=0.0;MQ=58.64;MQ0=0;MQRankSum=0.336;QD=16.27;ReadPosRankSum=-0.415;SNPEFF_AMINO_ACID_CHANGE=L189;SNPEFF_CODON_CHANGE=ttA/ttG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_3067786_3067961;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNTN4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000397459 GT:AD:DP:GQ:PL 0/1:15,16:31:99:534,0,468
3 3067853 rs7639977 G A 506.10 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=2.349;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.6;MQ0=0;MQRankSum=1.975;QD=16.87;ReadPosRankSum=-0.644;SNPEFF_AMINO_ACID_CHANGE=P190;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_3067786_3067961;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNTN4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000397459 GT:AD:DP:GQ:PL 0/1:14,16:30:99:536,0,438
3 3068127 rs7618862 C G 92.60 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNTN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358480 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:125,9,0
3 3076218 rs9845519 G A 168.78 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=0.968;DB;DP=14;Dels=0.0;FS=3.68;HRun=1;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=-1.485;QD=12.06;ReadPosRankSum=-0.968;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNTN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358480 GT:AD:DP:GQ:PL 0/1:8,6:14:99:199,0,270
3 3076284 rs6765545 G C 524.35 PASS AB=0.524;AC=1;AF=0.50;AN=2;BaseQRankSum=2.027;DB;DP=42;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.89;MQ0=0;MQRankSum=0.39;QD=12.48;ReadPosRankSum=1.322;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNTN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358480 GT:AD:DP:GQ:PL 0/1:22,20:42:99:554,0,653
3 3076401 rs6790908 C T 800.42 PASS AB=0.547;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.841;DB;DP=65;Dels=0.0;FS=1.03;HRun=0;HaplotypeScore=1.5592;MQ=58.93;MQ0=0;MQRankSum=0.889;QD=12.31;ReadPosRankSum=-0.434;SNPEFF_AMINO_ACID_CHANGE=N295;SNPEFF_CODON_CHANGE=aaC/aaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_3076316_3076474;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNTN4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000397459 GT:AD:DP:GQ:PL 0/1:35,29:65:99:830,0,1058
3 3076443 rs6803232 A G 2250.16 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=59.32;MQ0=0;QD=33.09;SNPEFF_AMINO_ACID_CHANGE=P309;SNPEFF_CODON_CHANGE=ccA/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_3076316_3076474;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNTN4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000397459 GT:AD:DP:GQ:PL 1/1:0,67:68:99:2283,175,0
3 3078840 rs9820464 C T 1169.07 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=0.643;DB;DP=90;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=2.031;QD=12.99;ReadPosRankSum=1.427;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNTN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358480 GT:AD:DP:GQ:PL 0/1:50,40:90:99:1199,0,1513
3 3079127 rs3749363 T G 454.67 PASS AB=0.515;AC=1;AF=0.50;AN=2;BaseQRankSum=1.387;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.3;MQ0=0;MQRankSum=1.639;QD=13.78;ReadPosRankSum=-1.963;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNTN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358480 GT:AD:DP:GQ:PL 0/1:17,16:33:99:485,0,501
3 3079185 rs17657874 A G 113.09 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=7;Dels=0.0;FS=3.68;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.55;QD=16.16;ReadPosRankSum=-0.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNTN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358480 GT:AD:DP:GQ:PL 0/1:3,4:7:68.47:143,0,68
3 3080527 rs163543 C T 248.13 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.63;MQ0=0;QD=31.02;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNTN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000430505 GT:AD:DP:GQ:PL 1/1:0,8:8:21.07:281,21,0
3 3080611 rs10510251 G C 363.80 PASS AB=0.536;AC=1;AF=0.50;AN=2;BaseQRankSum=2.123;DB;DP=28;Dels=0.0;FS=1.576;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=-0.561;QD=12.99;ReadPosRankSum=0.708;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNTN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000430505 GT:AD:DP:GQ:PL 0/1:15,13:28:99:394,0,429
3 3081825 rs339285 T C 1787.22 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.37;SNPEFF_AMINO_ACID_CHANGE=D428;SNPEFF_CODON_CHANGE=gaT/gaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_3081721_3081955;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNTN4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000397459 GT:AD:DP:GQ:PL 1/1:0,52:52:99:1820,144,0
3 3081959 rs339284 T C 391.42 PASS AB=0.552;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.153;DB;DP=29;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.2;MQ0=0;MQRankSum=-0.241;QD=13.5;ReadPosRankSum=0.066;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNTN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000430505 GT:AD:DP:GQ:PL 0/1:16,13:29:99:421,0,558
3 3082003 rs339283 T A 519.70 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.55;MQ0=0;QD=32.48;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNTN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000430505 GT:AD:DP:GQ:PL 1/1:1,15:16:42.14:553,42,0
3 3084147 rs163560 A G 421.30 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.09;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNTN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000430505 GT:AD:DP:GQ:PL 1/1:0,13:14:36.07:454,36,0
3 3085004 rs163562 C T 94.60 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.53;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNTN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427741 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:127,9,0
3 3095404 rs163573 G A 318.97 PASS AB=0.474;AC=1;AF=0.50;AN=2;BaseQRankSum=2.735;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.122;QD=16.79;ReadPosRankSum=0.776;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNTN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358480 GT:AD:DP:GQ:PL 0/1:9,10:19:99:349,0,274
3 3098041 rs163352 G C 103 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.6;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNTN4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358480 GT:AD:DP:GQ:PL 1/1:0,5:5:12.03:135,12,0
3 3115478 rs163897 T C 3475.13 PASS AC=2;AF=1.00;AN=2;DB;DP=114;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9159;MQ=59.6;MQ0=0;QD=30.48;SNPEFF_AMINO_ACID_CHANGE=S114;SNPEFF_CODON_CHANGE=tcA/tcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_3115454_3115510;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL5RA;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000353055 GT:AD:DP:GQ:PL 1/1:0,114:114:99:3475,283,0
3 3115514 rs340807 C A 2582.73 PASS AC=2;AF=1.00;AN=2;DB;DP=71;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.35;MQ0=0;QD=36.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL5RA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256452 GT:AD:DP:GQ:PL 1/1:0,71:71:99:2616,199,0
3 3118142 rs17878995 G T 435.60 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=3.788;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.921;QD=19.8;ReadPosRankSum=0.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL5RA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256452 GT:AD:DP:GQ:PL 0/1:8,14:22:99:466,0,208
3 3133791 rs7647903 G A 175.95 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL5RA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256452 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:209,15,0
3 3137155 rs11389765 A AT 310.02 PASS AC=2;AF=1.00;AN=2;DB;DP=15;FS=0.0;HRun=10;HaplotypeScore=43.0566;IndelType=I;MQ=59.57;MQ0=0;QD=20.67;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL5RA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000445701 GT:AD:DP:GQ:PL 1/1:3,12:15:33.08:352,33,0
3 3139383 rs334802 C A 125.17 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.86;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL5RA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427088 GT:AD:DP:GQ:PL 1/1:0,6:6:12.04:158,12,0
3 3143267 rs6771148 G C 416.81 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.89;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL5RA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427088 GT:AD:DP:GQ:PL 1/1:0,11:11:33.11:450,33,0
3 3144246 rs3856847 T A 573.91 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL5RA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256452 GT:AD:DP:GQ:PL 1/1:0,15:15:45.15:607,45,0
3 3170792 rs334773 C T 1704.84 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9998;MQ=59.52;MQ0=0;QD=35.52;SNPEFF_AMINO_ACID_CHANGE=P23L;SNPEFF_CODON_CHANGE=cCg/cTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_3170698_3170872;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRNT1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000251607 GT:AD:DP:GQ:PL 1/1:0,48:48:99:1738,126,0
3 3170910 rs334772 A G 668.93 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=39.35;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRNT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000251607 GT:AD:DP:GQ:PL 1/1:0,17:17:51.17:702,51,0
3 3171023 rs334771 A G 39.26 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=19.63;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRNT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000251607 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:71,6,0
3 3171460 rs334769 C T 44.34 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.17;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRNT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465998 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:76,6,0
3 3171713 rs113671187 G GCCTGACT 2161.09 PASS AC=2;AF=1.00;AN=2;DB;DP=21;FS=0.0;HRun=0;HaplotypeScore=117.0552;IndelType=I;MQ=35.04;MQ0=0;QD=102.91;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRNT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465998 GT:AD:DP:GQ:PL 1/1:9,10:21:60.21:2203,60,0
3 3179262 rs334767 A T 128.92 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.23;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRNT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397779 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:161,12,0
3 3182048 rs184085552 A G 137.37 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.583;DB;DP=12;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.9;MQ0=0;MQRankSum=0.259;QD=11.45;ReadPosRankSum=-0.583;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRNT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397779 GT:AD:DP:GQ:PL 0/1:6,6:12:99:167,0,197
3 3182485 rs184579 A G 328.59 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.51;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRNT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397779 GT:AD:DP:GQ:PL 1/1:0,9:9:27.08:362,27,0
3 3182500 rs334760 G C 344.79 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.05;MQ0=0;QD=34.48;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRNT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397779 GT:AD:DP:GQ:PL 1/1:0,10:10:30.09:378,30,0
3 3188016 rs3762760 A G 48.90 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.537;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=8.15;ReadPosRankSum=-0.406;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CRBN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000231948 GT:AD:DP:GQ:PL 0/1:3,3:6:78.90:79,0,107
3 3188362 rs1672772 A G 374.01 PASS AB=0.083;AC=1;AF=0.50;AN=2;BaseQRankSum=0.869;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.579;QD=31.17;ReadPosRankSum=1.448;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CRBN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000231948 GT:AD:DP:GQ:PL 0/1:1,11:12:5.64:403,0,6
3 3189059 rs1621648 T C 730.07 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9159;MQ=60.0;MQ0=0;QD=36.5;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CRBN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000231948 GT:AD:DP:GQ:PL 1/1:0,20:20:57.18:763,57,0
3 3189279 rs1705805 A G 2085.50 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.29;MQ0=0;QD=32.08;SNPEFF_AMINO_ACID_CHANGE=A296;SNPEFF_CODON_CHANGE=gcA/gcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_3189134_3189387;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRNT1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000280591 GT:AD:DP:GQ:PL 1/1:0,65:65:99:2119,172,0
3 3189398 rs1669348 A G 868.96 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=3.529;DB;DP=54;Dels=0.0;FS=6.181;HRun=0;HaplotypeScore=0.0;MQ=59.57;MQ0=0;MQRankSum=1.124;QD=16.09;ReadPosRankSum=1.228;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CRBN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000231948 GT:AD:DP:GQ:PL 0/1:27,27:54:99:899,0,803
3 3192524 rs4183 A ATAAC 858.22 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.044;DB;DP=18;FS=0.0;HRun=0;HaplotypeScore=57.9615;IndelType=I;MQ=57.94;MQ0=0;MQRankSum=-0.234;QD=47.68;ReadPosRankSum=-0.047;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CRBN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000459840 GT:AD:DP:GQ:PL 0/1:8,10:18:99:897,0,277
3 3193903 rs1134196 T C 77.41 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=19.35;ReadPosRankSum=0.727;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CRBN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000480249 GT:AD:DP:GQ:PL 0/1:1,3:4:29.72:107,0,30
3 3193957 rs1705800 A C 275.83 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.734;MQ=57.66;MQ0=0;QD=27.58;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CRBN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000480249 GT:AD:DP:GQ:PL 1/1:0,10:10:24.06:309,24,0
3 3194107 rs71934925 G GA 894.46 PASS AB=0.724;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.334;DB;DP=92;FS=4.273;HRun=10;HaplotypeScore=248.9778;IndelType=I;MQ=60.45;MQ0=0;MQRankSum=1.874;QD=9.72;ReadPosRankSum=-0.767;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CRBN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000480249 GT:AD:DP:GQ:PL 0/1:57,35:92:99:933,0,838
3 3195850 rs12635247 C G 408.67 PASS AB=0.483;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.593;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.022;QD=14.09;ReadPosRankSum=-1.942;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CRBN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000480249 GT:AD:DP:GQ:PL 0/1:14,15:29:99:439,0,467
3 3196273 rs34037496 AT A 103.13 PASS AC=2;AF=1.00;AN=2;DB;DP=5;FS=0.0;HRun=8;HaplotypeScore=13.0686;IndelType=D;MQ=60.0;MQ0=0;QD=20.63;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CRBN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000480249 GT:AD:DP:GQ:PL 1/1:0,5:5:15.02:145,15,0
3 3197871 rs1705789 T C 1286.16 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.76;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CRBN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000231948 GT:AD:DP:GQ:PL 1/1:0,37:37:96.31:1319,96,0
3 3197918 rs17027638 A G 766.25 PASS AB=0.509;AC=1;AF=0.50;AN=2;BaseQRankSum=0.742;DB;DP=57;Dels=0.0;FS=2.226;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.088;QD=13.44;ReadPosRankSum=0.567;SNPEFF_AMINO_ACID_CHANGE=Y182;SNPEFF_CODON_CHANGE=taT/taC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_3197903_3197965;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CRBN;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000546075 GT:AD:DP:GQ:PL 0/1:29,28:57:99:796,0,834
3 3209655 rs1672761 A T 81.02 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.01;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CRBN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000492178 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:113,9,0
3 3215954 rs1669321 A G 750.24 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.79;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CRBN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000231948 GT:AD:DP:GQ:PL 1/1:0,26:27:60.19:783,60,0
3 3221430 rs1672753 C T 82.06 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.35;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CRBN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000231948 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:114,9,0
3 3886580 rs4685689 A G 1890.86 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.6;MQ0=0;QD=33.17;SNPEFF_AMINO_ACID_CHANGE=A85;SNPEFF_CODON_CHANGE=gcA/gcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_3886048_3889387;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRN1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000319331 GT:AD:DP:GQ:PL 1/1:0,57:57:99:1924,150,0
3 3887093 rs9844909 A G 1470.07 PASS AB=0.39;AC=1;AF=0.50;AN=2;BaseQRankSum=0.301;DB;DP=77;Dels=0.0;FS=3.191;HRun=0;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=-0.038;QD=19.09;ReadPosRankSum=-0.937;SNPEFF_AMINO_ACID_CHANGE=Q256;SNPEFF_CODON_CHANGE=caA/caG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_3886048_3889387;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRN1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000319331 GT:AD:DP:GQ:PL 0/1:30,47:77:99:1500,0,826
3 3887876 rs2120609 T C 3738.33 PASS AC=2;AF=1.00;AN=2;DB;DP=107;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=59.39;MQ0=0;QD=34.94;SNPEFF_AMINO_ACID_CHANGE=N517;SNPEFF_CODON_CHANGE=aaT/aaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_3886048_3889387;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRN1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000319331 GT:AD:DP:GQ:PL 1/1:0,106:107:99:3738,292,0
3 4110440 rs34308595 T TAAG 1461.15 PASS AB=0.738;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.164;DB;DP=79;FS=0.0;HRun=0;HaplotypeScore=259.667;IndelType=I;MQ=61.26;MQ0=0;MQRankSum=1.508;QD=18.5;ReadPosRankSum=0.072;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SUMF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000534863 GT:AD:DP:GQ:PL 0/1:51,28:79:99:1500,0,1059
3 4110570 rs711677 G C 124.39 PASS AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=20.73;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SUMF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000534863 GT:AD:DP:GQ:PL 0/1:1,5:6:24.18:154,0,24
3 4345766 rs13099918 C T 52.75 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SETMAR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358065 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
3 4459972 rs698209 A G 193.12 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.19;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SUMF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272902 GT:AD:DP:GQ:PL 1/1:0,6:6:18.04:226,18,0
3 4461569 rs711667 G A 46.56 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.28;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SUMF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272902 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:78,6,0
3 4461698 rs711666 C T 842.72 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.64;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SUMF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000272902 GT:AD:DP:GQ:PL 1/1:0,23:23:66.21:876,66,0
3 4562667 rs1038639 T G 654.32 PASS AB=0.559;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.374;DB;DP=59;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9987;MQ=60.0;MQ0=0;MQRankSum=-1.397;QD=11.09;ReadPosRankSum=-1.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITPR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302640 GT:AD:DP:GQ:PL 0/1:33,26:59:99:684,0,1057
3 4683606 rs4685784 G C 515.46 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=39.65;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITPR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491868 GT:AD:DP:GQ:PL 1/1:0,13:13:39.13:548,39,0
3 4687470 rs113665351 G GCT 760.86 PASS AB=0.591;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.323;DB;DP=26;FS=2.831;HRun=0;HaplotypeScore=98.6126;IndelType=I;MQ=61.64;MQ0=0;MQRankSum=-1.323;QD=29.26;ReadPosRankSum=0.945;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITPR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302640 GT:AD:DP:GQ:PL 0/1:8,17:26:14.22:800,0,14
3 4687498 rs41289624 T A 221.08 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=0.058;DB;DP=16;Dels=0.0;FS=7.16;HRun=0;HaplotypeScore=0.0;MQ=62.0;MQ0=0;MQRankSum=-0.174;QD=13.82;ReadPosRankSum=1.794;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITPR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302640 GT:AD:DP:GQ:PL 0/1:9,7:16:99:251,0,213
3 4687548 rs4271897 A G 60.77 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=1.106;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=62.65;MQ0=0;MQRankSum=-0.382;QD=5.06;ReadPosRankSum=-1.106;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITPR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302640 GT:AD:DP:GQ:PL 0/1:9,3:12:90.76:91,0,278
3 4687577 rs4303850 A G 37.24 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.72;QD=6.21;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITPR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302640 GT:AD:DP:GQ:PL 0/1:4,2:6:67.23:67,0,144
3 4693656 rs6442894 C T 86.84 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.95;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITPR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302640 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:119,9,0
3 4693937 rs6442895 G C 881.60 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.495;DB;DP=28;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=3.4092;MQ=58.5;MQ0=0;MQRankSum=-1.733;QD=31.49;ReadPosRankSum=1.609;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITPR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302640 GT:AD:DP:GQ:PL 1/1:1,27:28:38.92:915,39,0
3 4694010 rs6442896 A C 132.03 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.41;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITPR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302640 GT:AD:DP:GQ:PL 1/1:0,5:5:15.04:165,15,0
3 4694068 rs6442897 C G 52.28 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITPR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302640 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
3 4703547 rs6801563 T C 123.12 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.78;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITPR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302640 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:156,12,0
3 4712234 rs1994500 G A 52.75 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITPR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302640 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:84,6,0
3 4712413 rs2306875 G A 430.43 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.118;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=59.48;MQ0=0;MQRankSum=-0.578;QD=11.96;ReadPosRankSum=-1.54;SNPEFF_AMINO_ACID_CHANGE=K654;SNPEFF_CODON_CHANGE=aaG/aaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_4712413_4712610;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITPR1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000302640 GT:AD:DP:GQ:PL 0/1:21,15:36:99:460,0,717
3 4712710 rs2306876 A T 141.63 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.369;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.811;QD=10.89;ReadPosRankSum=0.66;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITPR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302640 GT:AD:DP:GQ:PL 0/1:7,6:13:99:172,0,250
3 4716214 rs3804984 T C 156.91 PASS AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=26.15;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITPR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477577 GT:AD:DP:GQ:PL 0/1:1,5:6:21.26:187,0,21
3 4716672 rs13082052 T C 276.74 PASS AB=0.55;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.216;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=-0.836;QD=13.84;ReadPosRankSum=-0.684;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITPR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477577 GT:AD:DP:GQ:PL 0/1:11,9:20:99:307,0,406
3 4722070 rs72995437 C T 66.45 PASS AB=0.733;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.807;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.588;QD=4.43;ReadPosRankSum=-0.718;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITPR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302640 GT:AD:DP:GQ:PL 0/1:11,4:15:96.45:96,0,416
3 4725555 rs17710726 G C 503.69 PASS AB=0.485;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.092;DB;DP=33;Dels=0.0;FS=2.222;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.999;QD=15.26;ReadPosRankSum=0.773;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITPR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302640 GT:AD:DP:GQ:PL 0/1:16,17:33:99:534,0,495
3 4732670 rs4685801 G A 98.52 PASS AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=6;Dels=0.0;FS=0.0;HRun=6;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=16.42;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITPR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302640 GT:AD:DP:GQ:PL 0/1:1,5:6:27.19:129,0,27
3 4733269 rs6786081 C G 41.52 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=13.84;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITPR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302640 GT:AD:DP:GQ:PL 0/1:1,2:3:33.20:72,0,33
3 4738653 rs3749381 T C 235.19 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.289;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.929;QD=19.6;ReadPosRankSum=0.289;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITPR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302640 GT:AD:DP:GQ:PL 0/1:4,8:12:99:265,0,133
3 4738774 rs3749382 A G 1102.38 PASS AB=0.457;AC=1;AF=0.50;AN=2;BaseQRankSum=1.595;DB;DP=70;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.5847;MQ=59.01;MQ0=0;MQRankSum=0.75;QD=15.75;ReadPosRankSum=-1.393;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITPR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302640 GT:AD:DP:GQ:PL 0/1:32,38:70:99:1132,0,922
3 4738999 rs57508054 G GGTGTGT 583.37 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.992;DB;DP=44;FS=0.0;HRun=0;HaplotypeScore=332.9231;IndelType=I;MQ=50.76;MQ0=1;MQRankSum=-0.496;QD=12.96;ReadPosRankSum=-1.24;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITPR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302640 GT:AD:DP:GQ:PL 1/1:34,5:44:33.71:625,34,0
3 4741821 rs9311395 A G 125.32 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.322;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.322;QD=15.66;ReadPosRankSum=1.221;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITPR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302640 GT:AD:DP:GQ:PL 0/1:3,5:8:95.95:155,0,96
3 4753712 rs2306881 A G 284.10 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.83;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITPR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302640 GT:AD:DP:GQ:PL 1/1:0,11:11:27.08:317,27,0
3 4767262 rs7613447 T C 1287.97 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.03;MQ0=0;QD=26.83;SNPEFF_AMINO_ACID_CHANGE=T169;SNPEFF_CODON_CHANGE=acT/acC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_4767230_4767265;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITPR1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000426160 GT:AD:DP:GQ:PL 1/1:0,48:48:99:1321,117,0
3 4817057 rs6442905 T C 6382.82 PASS AC=2;AF=1.00;AN=2;DB;DP=198;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.6617;MQ=59.77;MQ0=0;QD=32.24;SNPEFF_AMINO_ACID_CHANGE=N1974;SNPEFF_CODON_CHANGE=aaT/aaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_4816926_4817126;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITPR1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000456211 GT:AD:DP:GQ:PL 1/1:0,198:198:99:6383,505,0
3 4818792 rs4684443 T C 892.05 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.99;MQ0=0;QD=38.78;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITPR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479831 GT:AD:DP:GQ:PL 1/1:0,23:23:69.22:925,69,0
3 4824131 rs6442907 T C 399.79 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITPR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302640 GT:AD:DP:GQ:PL 1/1:0,12:12:33.10:433,33,0
3 4842488 rs2291861 G T 33.83 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=5.64;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITPR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302640 GT:AD:DP:GQ:PL 0/1:4,2:6:63.82:64,0,150
3 4856180 rs711631 T C 3630.04 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.701;DB;DP=114;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.4972;MQ=59.8;MQ0=0;MQRankSum=-1.518;QD=31.84;ReadPosRankSum=-0.843;SNPEFF_AMINO_ACID_CHANGE=T2482;SNPEFF_CODON_CHANGE=acT/acC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_4856107_4856246;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITPR1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000456211 GT:AD:DP:GQ:PL 1/1:1,113:114:99:3630,301,0
3 4856234 rs901854 G A 1864.60 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.56;MQ0=0;QD=35.18;SNPEFF_AMINO_ACID_CHANGE=K1009;SNPEFF_CODON_CHANGE=aaG/aaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_4856107_4856246;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITPR1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000426160 GT:AD:DP:GQ:PL 1/1:0,53:53:99:1898,150,0
3 4856993 rs6442911 C G 1273.45 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9987;MQ=60.0;MQ0=0;QD=38.59;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITPR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467545 GT:AD:DP:GQ:PL 1/1:0,33:33:99:1306,99,0
3 4859725 rs9844268 G A 1706.54 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.2434;MQ=59.03;MQ0=0;QD=35.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC018816.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000441894 GT:AD:DP:GQ:PL 1/1:0,48:48:99:1740,129,0
3 4867510 rs1051559 A G 941.37 PASS AB=0.36;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.87;DB;DP=50;Dels=0.0;FS=1.401;HRun=2;HaplotypeScore=1.7753;MQ=59.63;MQ0=0;MQRankSum=-0.313;QD=18.83;ReadPosRankSum=-1.162;SNPEFF_AMINO_ACID_CHANGE=P51;SNPEFF_CODON_CHANGE=ccT/ccC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_4867430_4867546;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC018816.3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000449914 GT:AD:DP:GQ:PL 0/1:18,32:50:99:971,0,625
3 4878419 rs80218153 CTTTTTTTTTTT C 395.96 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.573;DB;DP=9;FS=0.0;HRun=24;HaplotypeScore=121.5525;IndelType=D;MQ=38.13;MQ0=0;MQRankSum=-2.054;QD=44.0;ReadPosRankSum=2.054;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC018816.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000441894 GT:AD:DP:GQ:PL 0/1:2,5:9:99:435,0,389
3 4878839 rs10865951 T C 131.13 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.23;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITPR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478515 GT:AD:DP:GQ:PL 1/1:0,5:5:15.03:164,15,0
3 4927281 rs4685841 T C 253.76 PASS AB=0.385;AC=1;AF=0.50;AN=2;BaseQRankSum=1.991;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.991;QD=19.52;ReadPosRankSum=-0.212;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC018816.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000441894 GT:AD:DP:GQ:PL 0/1:5,8:13:99:284,0,163
3 4927308 rs6794077 A G 640.82 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.04;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=AC018816.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000441894 GT:AD:DP:GQ:PL 1/1:0,20:20:57.17:674,57,0
3 5021403 rs2271566 C T 31.49 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=10.5;ReadPosRankSum=0.736;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BHLHE40;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467610 GT:AD:DP:GQ:PL 0/1:1,2:3:30.29:61,0,30
3 5022961 rs13076468 A C 463.33 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=0.894;DB;DP=24;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.6316;MQ=59.49;MQ0=0;MQRankSum=-2.385;QD=19.31;ReadPosRankSum=0.417;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BHLHE40;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256495 GT:AD:DP:GQ:PL 0/1:9,15:24:99:493,0,294
3 5022981 rs34085319 CT C 375.41 PASS AB=0.677;AC=1;AF=0.50;AN=2;BaseQRankSum=5.139;DB;DP=44;FS=0.0;HRun=10;HaplotypeScore=191.7192;IndelType=D;MQ=59.44;MQ0=0;MQRankSum=0.109;QD=8.53;ReadPosRankSum=2.102;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BHLHE40;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256495 GT:AD:DP:GQ:PL 0/1:23,21:44:99:414,0,594
3 5024415 rs11398309 A AT 1787.62 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-2.051;DB;DP=71;FS=0.0;HRun=11;HaplotypeScore=181.9578;IndelType=I;MQ=60.12;MQ0=0;MQRankSum=0.225;QD=25.18;ReadPosRankSum=1.601;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BHLHE40;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460806 GT:AD:DP:GQ:PL 1/1:9,62:71:99:1830,115,0
3 5024771 rs908078 T C 457.51 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=1.602;DB;DP=39;Dels=0.0;FS=1.294;HRun=0;HaplotypeScore=0.9997;MQ=60.0;MQ0=0;MQRankSum=0.303;QD=11.73;ReadPosRankSum=1.313;SNPEFF_AMINO_ACID_CHANGE=G211;SNPEFF_CODON_CHANGE=ggT/ggC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_5024521_5027008;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BHLHE40;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000256495 GT:AD:DP:GQ:PL 0/1:24,15:39:99:487,0,774
3 5214505 rs141004680 A G 256.17 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=0.222;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9933;MQ=60.0;MQ0=0;MQRankSum=0.311;QD=14.23;ReadPosRankSum=0.844;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARL8B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000429403 GT:AD:DP:GQ:PL 0/1:8,10:18:99:286,0,285
3 5241223 rs377120 C T 259.29 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.04;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=EDEM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465187 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:292,21,0
3 5241309 rs410509 C A 457.48 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.91;SNPEFF_AMINO_ACID_CHANGE=A10;SNPEFF_CODON_CHANGE=gcC/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_5241277_5241380;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=EDEM1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000445686 GT:AD:DP:GQ:PL 1/1:0,17:17:36.10:490,36,0
3 6903297 rs3749380 C T 249.30 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=1.107;DB;DP=18;Dels=0.0;FS=4.752;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.299;QD=13.85;ReadPosRankSum=0.048;SNPEFF_AMINO_ACID_CHANGE=N74;SNPEFF_CODON_CHANGE=aaC/aaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_6902802_6903594;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=GRM7;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000357716 GT:AD:DP:GQ:PL 0/1:8,10:18:99:279,0,256
3 6903601 rs342034 A G 443.15 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.93;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=GRM7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357716 GT:AD:DP:GQ:PL 1/1:0,12:12:36.12:476,36,0
3 7340164 rs2291867 G A 34.13 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=11.38;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=GRM7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357716 GT:AD:DP:GQ:PL 0/1:1,2:3:31.62:64,0,32
3 7347995 rs62237061 G C 37.19 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.72;QD=6.2;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=GRM7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357716 GT:AD:DP:GQ:PL 0/1:4,2:6:67.18:67,0,140
3 7456675 rs712774 C T 293.52 PASS AB=0.593;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.173;DB;DP=27;Dels=0.0;FS=9.118;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-2.344;QD=10.87;ReadPosRankSum=-1.209;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=GRM7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357716 GT:AD:DP:GQ:PL 0/1:16,11:27:99:324,0,479
3 7494245 rs111752136 TTG T 241.98 PASS AB=0.725;AC=1;AF=0.50;AN=2;BaseQRankSum=2.543;DB;DP=29;FS=0.0;HRun=0;HaplotypeScore=120.0138;IndelType=D;MQ=59.16;MQ0=0;MQRankSum=0.83;QD=8.34;ReadPosRankSum=0.052;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=GRM7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357716 GT:AD:DP:GQ:PL 0/1:18,10:29:99:281,0,592
3 7494417 rs2229902 A T 455.36 PASS AB=0.483;AC=1;AF=0.50;AN=2;BaseQRankSum=2.335;DB;DP=29;Dels=0.0;FS=1.617;HRun=1;HaplotypeScore=0.5784;MQ=59.2;MQ0=0;MQRankSum=1.593;QD=15.7;ReadPosRankSum=0.982;SNPEFF_AMINO_ACID_CHANGE=Y433F;SNPEFF_CODON_CHANGE=tAc/tTc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_7494294_7494494;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=GRM7;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000357716 GT:AD:DP:GQ:PL 0/1:14,15:29:99:485,0,375
3 7721613 rs162802 T C 497.89 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=GRM7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357716 GT:AD:DP:GQ:PL 1/1:0,13:13:39.13:531,39,0
3 7732726 rs5846531 AT A 1194.53 PASS AC=2;AF=1.00;AN=2;DB;DP=55;FS=0.0;HRun=11;HaplotypeScore=157.7855;IndelType=D;MQ=60.39;MQ0=0;QD=21.72;SNPEFF_EFFECT=FRAME_SHIFT;SNPEFF_EXON_ID=exon_3_7732727_7732793;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=GRM7;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000525747 GT:AD:DP:GQ:PL 1/1:1,49:55:99:1237,157,0
3 8543713 rs5846598 G GT 909.09 PASS AC=2;AF=1.00;AN=2;DB;DP=24;FS=0.0;HRun=2;HaplotypeScore=49.1068;IndelType=I;MQ=60.45;MQ0=0;QD=37.88;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LMCD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000157600 GT:AD:DP:GQ:PL 1/1:2,22:24:66.22:951,66,0
3 8543892 rs77081317 G T 50.63 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LMCD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000157600 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
3 8590313 rs3088339 T C 1027.01 PASS AB=0.558;AC=1;AF=0.50;AN=2;BaseQRankSum=0.578;DB;DP=86;Dels=0.0;FS=0.866;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.935;QD=11.94;ReadPosRankSum=-0.091;SNPEFF_AMINO_ACID_CHANGE=G106;SNPEFF_CODON_CHANGE=ggT/ggC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_8590254_8590589;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LMCD1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000426878 GT:AD:DP:GQ:PL 0/1:48,38:86:99:1057,0,1289
3 8608920 rs171408 G A 442.80 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=3.395;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.007;QD=21.09;ReadPosRankSum=1.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LMCD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000157600 GT:AD:DP:GQ:PL 0/1:7,14:21:99:473,0,189
3 8667896 rs355058 T C 1315.66 PASS AB=0.606;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.747;DB;DP=128;Dels=0.0;FS=8.483;HRun=0;HaplotypeScore=2.3782;MQ=59.67;MQ0=0;MQRankSum=0.806;QD=10.28;ReadPosRankSum=-0.786;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf32;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427408 GT:AD:DP:GQ:PL 0/1:77,50:128:99:1346,0,2417
3 8669367 rs34995627 TG T 418.17 PASS AB=0.628;AC=1;AF=0.50;AN=2;BaseQRankSum=1.297;DB;DP=27;FS=1.598;HRun=4;HaplotypeScore=76.8177;IndelType=D;MQ=60.4;MQ0=0;MQRankSum=-0.727;QD=15.49;ReadPosRankSum=-0.519;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf32;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427408 GT:AD:DP:GQ:PL 0/1:11,16:27:99:457,0,384
3 8676945 rs3816911 T C 212.27 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf32;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317371 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:245,18,0
3 8686191 rs164959 C T 43.44 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=14.48;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf32;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317371 GT:AD:DP:GQ:PL 0/1:1,2:3:32.20:73,0,32
3 8686727 rs13099767 G T 82.92 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.64;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf32;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317371 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:115,9,0
3 8775589 rs1974763 C T 1097.30 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=2.166;DB;DP=70;Dels=0.0;FS=2.018;HRun=1;HaplotypeScore=0.0;MQ=59.34;MQ0=0;MQRankSum=1.442;QD=15.68;ReadPosRankSum=0.398;SNPEFF_AMINO_ACID_CHANGE=L9;SNPEFF_CODON_CHANGE=ctC/ctT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_8775486_8775676;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAV3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000343849 GT:AD:DP:GQ:PL 0/1:30,40:70:99:1127,0,753
3 8787189 rs57159780 G C 191.73 PASS AB=0.529;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.491;DB;DP=17;Dels=0.0;FS=4.752;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.241;QD=11.28;ReadPosRankSum=-0.144;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OXTR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000316793 GT:AD:DP:GQ:PL 0/1:9,8:17:99:222,0,267
3 8787220 rs13087941 T C 240.58 PASS AB=0.542;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.934;DB;DP=24;Dels=0.0;FS=3.821;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.758;QD=10.02;ReadPosRankSum=-0.429;SNPEFF_AMINO_ACID_CHANGE=F41;SNPEFF_CODON_CHANGE=ttT/ttC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_8787212_8788451;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAV3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000343849 GT:AD:DP:GQ:PL 0/1:13,11:24:99:271,0,399
3 8809162 rs61740241 C T 236.83 PASS AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.0;DB;DP=19;Dels=0.0;FS=2.304;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.204;QD=12.46;ReadPosRankSum=-0.041;SNPEFF_AMINO_ACID_CHANGE=A238T;SNPEFF_CODON_CHANGE=Gcg/Acg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_8808952_8810015;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OXTR;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000316793 GT:AD:DP:GQ:PL 0/1:10,9:19:99:267,0,339
3 8809184 rs237902 G A 257.75 PASS AB=0.609;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.031;DB;DP=23;Dels=0.0;FS=4.434;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.409;QD=11.21;ReadPosRankSum=0.031;SNPEFF_AMINO_ACID_CHANGE=N230;SNPEFF_CODON_CHANGE=aaC/aaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_8808952_8810015;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OXTR;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000316793 GT:AD:DP:GQ:PL 0/1:14,9:23:99:288,0,421
3 8809703 rs2228485 G A 172.49 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.64;SNPEFF_AMINO_ACID_CHANGE=N57;SNPEFF_CODON_CHANGE=aaC/aaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_8808952_8810015;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OXTR;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000316793 GT:AD:DP:GQ:PL 1/1:0,7:7:15.05:205,15,0
3 8810008 rs237911 G A 49.99 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OXTR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474615 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
3 8931984 rs656626 A C 349.67 PASS AB=0.52;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.713;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.006;QD=13.99;ReadPosRankSum=-2.094;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RAD18;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264926 GT:AD:DP:GQ:PL 0/1:13,12:25:99:380,0,470
3 8932189 rs607531 C T 414.02 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.859;DB;DP=35;Dels=0.0;FS=5.87;HRun=0;HaplotypeScore=0.0;MQ=59.34;MQ0=0;MQRankSum=-0.118;QD=11.83;ReadPosRankSum=-0.387;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RAD18;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264926 GT:AD:DP:GQ:PL 0/1:21,14:35:99:444,0,682
3 8943988 rs464302 C A 379.98 PASS AB=0.519;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.208;DB;DP=27;Dels=0.0;FS=2.269;HRun=0;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=-0.752;QD=14.07;ReadPosRankSum=-0.267;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RAD18;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264926 GT:AD:DP:GQ:PL 0/1:14,13:27:99:410,0,493
3 8955240 rs430781 T C 172.99 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.467;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.467;QD=14.42;ReadPosRankSum=0.779;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RAD18;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264926 GT:AD:DP:GQ:PL 0/1:6,6:12:99:203,0,213
3 8955389 rs373572 C T 703.43 PASS AB=0.368;AC=1;AF=0.50;AN=2;BaseQRankSum=2.959;DB;DP=38;Dels=0.0;FS=1.451;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.141;QD=18.51;ReadPosRankSum=1.049;SNPEFF_AMINO_ACID_CHANGE=R302Q;SNPEFF_CODON_CHANGE=cGa/cAa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_8955328_8955404;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RAD18;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000264926 GT:AD:DP:GQ:PL 0/1:14,24:38:99:733,0,350
3 8988809 rs689296 C T 1314.94 PASS AB=0.468;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.469;DB;DP=79;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=59.76;MQ0=0;MQRankSum=-0.653;QD=16.64;ReadPosRankSum=0.034;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RAD18;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264926 GT:AD:DP:GQ:PL 0/1:37,42:79:99:1345,0,1183
3 9027704 rs341785 A G 32.51 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.72;QD=5.42;ReadPosRankSum=-1.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SRGAP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360413 GT:AD:DP:GQ:PL 0/1:4,2:6:62.50:63,0,131
3 9055293 rs35295033 G T 100.66 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.922;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.421;QD=12.58;ReadPosRankSum=0.922;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SRGAP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000433332 GT:AD:DP:GQ:PL 0/1:4,4:8:99:131,0,139
3 9066853 rs421041 T C 512.82 PASS AB=0.568;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.239;DB;DP=37;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.334;QD=13.86;ReadPosRankSum=1.194;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SRGAP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360413 GT:AD:DP:GQ:PL 0/1:21,16:37:99:543,0,728
3 9069747 rs416685 A G 463.53 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.662;DB;DP=45;Dels=0.0;FS=1.238;HRun=0;HaplotypeScore=0.7887;MQ=59.59;MQ0=0;MQRankSum=-1.426;QD=10.3;ReadPosRankSum=0.224;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SRGAP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360413 GT:AD:DP:GQ:PL 0/1:24,21:45:99:494,0,797
3 9069873 rs10510396 A G 193.27 PASS AB=0.65;AC=1;AF=0.50;AN=2;BaseQRankSum=0.158;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.06;MQ0=0;MQRankSum=2.853;QD=9.66;ReadPosRankSum=-0.713;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SRGAP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360413 GT:AD:DP:GQ:PL 0/1:13,7:20:99:223,0,435
3 9089254 rs2244864 C G 184.40 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.205;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=0.259;QD=15.37;ReadPosRankSum=-0.779;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SRGAP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360413 GT:AD:DP:GQ:PL 0/1:6,6:12:99:214,0,180
3 9094673 . G T 54.29 QDFilter2 AB=0.459;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.271;DP=37;Dels=0.0;FS=3.01;HRun=2;HaplotypeScore=3.8616;MQ=45.92;MQ0=0;MQRankSum=-1.991;QD=1.47;ReadPosRankSum=1.991;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SRGAP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360413 GT:AD:DP:GQ:PL 0/1:17,20:37:84.29:84,0,178
3 9406704 rs11547584 G A 860.76 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=3.238;DB;DP=60;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.734;MQ=59.62;MQ0=0;MQRankSum=0.556;QD=14.35;ReadPosRankSum=1.015;SNPEFF_EFFECT=SPLICE_SITE_ACCEPTOR;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=THUMPD3;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000515662 GT:AD:DP:GQ:PL 0/1:32,28:60:99:891,0,1010
3 9416474 rs2596920 A G 123.72 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.731;QD=24.74;ReadPosRankSum=0.731;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=THUMPD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000419437 GT:AD:DP:GQ:PL 0/1:1,4:5:26.18:154,0,26
3 9422334 rs34405225 TAG T 447.34 PASS AB=0.762;AC=1;AF=0.50;AN=2;BaseQRankSum=4.271;DB;DP=48;FS=6.334;HRun=0;HaplotypeScore=151.3546;IndelType=D;MQ=60.0;MQ0=0;MQRankSum=0.391;QD=9.32;ReadPosRankSum=2.054;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=THUMPD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000345094 GT:AD:DP:GQ:PL 0/1:33,15:48:99:486,0,1555
3 9425743 rs2600193 A G 682.80 PASS AB=0.432;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.253;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9999;MQ=59.38;MQ0=0;MQRankSum=-1.242;QD=18.45;ReadPosRankSum=-0.077;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=THUMPD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461636 GT:AD:DP:GQ:PL 0/1:16,21:37:99:713,0,548
3 9489767 rs2258735 T C 135.48 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.668;DB;DP=10;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.103;QD=13.55;ReadPosRankSum=0.676;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=SETD5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464410 GT:AD:DP:GQ:PL 0/1:5,5:10:99:165,0,171
3 9548004 rs17815563 G A 105.70 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.47;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.453;QD=10.57;ReadPosRankSum=-0.851;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LHFPL4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287585 GT:AD:DP:GQ:PL 0/1:5,5:10:99:136,0,181
3 9730868 rs159142 G C 104.75 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.365;DB;DP=10;Dels=0.0;FS=3.979;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=10.47;ReadPosRankSum=-0.365;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTMR14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000431250 GT:AD:DP:GQ:PL 0/1:6,4:10:99:135,0,220
3 9743398 rs35219906 TGGAG T 168.82 PASS AB=0.722;AC=1;AF=0.50;AN=2;BaseQRankSum=2.927;DB;DP=13;FS=0.0;HRun=0;HaplotypeScore=58.2433;IndelType=D;MQ=57.23;MQ0=0;MQRankSum=-0.533;QD=12.99;ReadPosRankSum=0.696;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MTMR14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296003 GT:AD:DP:GQ:PL 0/1:8,5:13:99:208,0,578
3 9757086 rs697820 C G 813.22 PASS AB=0.405;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.098;DB;DP=42;Dels=0.0;FS=2.7;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-2.183;QD=19.36;ReadPosRankSum=-1.76;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CPNE9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000383831 GT:AD:DP:GQ:PL 0/1:17,25:42:99:843,0,542
3 9757754 rs708571 G A 268.58 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=1.286;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.429;QD=17.91;ReadPosRankSum=1.653;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CPNE9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000383831 GT:AD:DP:GQ:PL 0/1:5,10:15:99:299,0,162
3 9758664 rs6765151 A G 356.57 PASS AB=0.421;AC=1;AF=0.50;AN=2;BaseQRankSum=0.867;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.619;QD=18.77;ReadPosRankSum=-0.784;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CPNE9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000383831 GT:AD:DP:GQ:PL 0/1:8,11:19:99:387,0,255
3 9768336 rs3868893 C G 1031.71 PASS AB=0.472;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.61;DB;DP=72;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.8808;MQ=59.42;MQ0=0;MQRankSum=0.421;QD=14.33;ReadPosRankSum=1.276;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CPNE9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000383831 GT:AD:DP:GQ:PL 0/1:34,38:72:99:1062,0,912
3 9769008 rs3891072 A T 887.39 PASS AB=0.464;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.703;DB;DP=56;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=59.59;MQ0=0;MQRankSum=-0.665;QD=15.85;ReadPosRankSum=0.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CPNE9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000383831 GT:AD:DP:GQ:PL 0/1:26,30:56:99:917,0,701
3 9799113 rs293795 A G 588.94 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.72;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAMK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000411972 GT:AD:DP:GQ:PL 1/1:0,18:18:48.15:622,48,0
3 9829226 rs293786 A C 346.10 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.46;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TADA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000439043 GT:AD:DP:GQ:PL 1/1:0,11:11:30.08:379,30,0
3 9831112 rs293790 A G 311.87 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.35;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TADA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000439043 GT:AD:DP:GQ:PL 1/1:0,11:11:30.08:345,30,0
3 9831680 rs293791 G C 1357.47 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=59.44;MQ0=0;QD=33.11;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TADA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000301964 GT:AD:DP:GQ:PL 1/1:0,41:41:99:1390,105,0
3 9854865 rs11708462 A C 814.36 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.41;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARPC4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418163 GT:AD:DP:GQ:PL 1/1:0,23:23:66.21:847,66,0
3 9854913 rs11720113 C A 1245.82 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.61;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARPC4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418163 GT:AD:DP:GQ:PL 1/1:0,36:36:93.31:1279,93,0
3 9857514 rs7652460 A G 848.70 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.58;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARPC4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418163 GT:AD:DP:GQ:PL 1/1:0,22:22:66.21:882,66,0
3 9860274 rs147069178 G A 33.02 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=43.97;MQ0=0;QD=16.51;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTLL3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000414814 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:64,6,0
3 9867625 rs3732527 C T 1235.52 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.39;SNPEFF_AMINO_ACID_CHANGE=R227;SNPEFF_CODON_CHANGE=cgC/cgT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_9867484_9867632;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTLL3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000443148 GT:AD:DP:GQ:PL 1/1:0,37:37:93.31:1269,93,0
3 9868577 rs12490900 A G 335.92 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.05;MQ0=0;QD=27.99;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARPC4-TTLL3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397256 GT:AD:DP:GQ:PL 1/1:0,12:12:30.09:369,30,0
3 9871030 rs2290305 T G 2404.93 PASS AC=2;AF=1.00;AN=2;DB;DP=75;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.69;MQ0=0;QD=32.07;SNPEFF_AMINO_ACID_CHANGE=M290R;SNPEFF_CODON_CHANGE=aTg/aGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_9870644_9871079;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTLL3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000383827 GT:AD:DP:GQ:PL 1/1:0,75:75:99:2438,178,0
3 9874670 rs7622954 G A 420.06 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.19;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RPUSD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000383820 GT:AD:DP:GQ:PL 1/1:0,11:11:33.11:453,33,0
3 9875212 rs11926325 G A 50.63 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.32;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RPUSD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000383820 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
3 9876301 rs13088594 G T 476.28 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.75;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RPUSD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000383820 GT:AD:DP:GQ:PL 1/1:0,15:15:39.13:509,39,0
3 9876919 rs1057278 G A 1648.13 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.34;SNPEFF_AMINO_ACID_CHANGE=A689T;SNPEFF_CODON_CHANGE=Gct/Act;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_9876778_9878037;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTLL3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000547186 GT:AD:DP:GQ:PL 1/1:0,47:48:99:1681,126,0
3 9876987 rs1057281 G A 2096.82 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;QD=33.28;SNPEFF_AMINO_ACID_CHANGE=R711;SNPEFF_CODON_CHANGE=agG/agA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_9876778_9878037;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTLL3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000547186 GT:AD:DP:GQ:PL 1/1:0,63:63:99:2130,162,0
3 9881720 rs4299465 G A 52.75 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.37;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARPC4-TTLL3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397256 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
3 9885022 rs3846165 T C 712.84 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.892;MQ=58.95;MQ0=0;QD=32.4;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RPUSD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000383820 GT:AD:DP:GQ:PL 1/1:0,21:22:57.16:746,57,0
3 9932337 rs279558 G C 159.32 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.76;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_3_9932238_9932495;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=JAGN1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000307768 GT:AD:DP:GQ:PL 1/1:0,7:7:15.05:192,15,0
3 9934605 rs279553 T C 925.27 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.39;MQ0=0;QD=31.91;SNPEFF_AMINO_ACID_CHANGE=T32;SNPEFF_CODON_CHANGE=acT/acC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_9934599_9936033;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=JAGN1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000307768 GT:AD:DP:GQ:PL 1/1:0,29:29:72.23:958,72,0
3 9944937 rs279588 G T 215.46 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=IL17RE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295980 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:248,18,0
3 9947997 rs279581 C T 413.15 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.51;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=IL17RE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461534 GT:AD:DP:GQ:PL 1/1:0,14:14:36.11:446,36,0
3 9948241 rs279580 G A 638.42 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.71;MQ0=0;QD=35.47;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=IL17RE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461534 GT:AD:DP:GQ:PL 1/1:0,18:18:54.14:671,54,0
3 9952706 rs279572 A G 1483.78 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.01;MQ0=0;QD=31.57;SNPEFF_AMINO_ACID_CHANGE=T203;SNPEFF_CODON_CHANGE=acA/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_9952549_9952724;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=IL17RE;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000441648 GT:AD:DP:GQ:PL 1/1:0,47:47:99:1517,123,0
3 9952788 rs279571 T C 2140.65 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.445;MQ=59.32;MQ0=0;QD=31.48;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=IL17RE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000454992 GT:AD:DP:GQ:PL 1/1:0,68:68:99:2174,171,0
3 9953470 rs279570 T C 112.94 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.82;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=IL17RE;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000444427 GT:AD:DP:GQ:PL 1/1:0,6:6:12.04:145,12,0
3 9956279 rs455863 G A 2686.27 PASS AC=2;AF=1.00;AN=2;DB;DP=72;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.6316;MQ=59.68;MQ0=0;QD=37.31;SNPEFF_AMINO_ACID_CHANGE=G473R;SNPEFF_CODON_CHANGE=Gga/Aga;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_9956159_9956283;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=IL17RE;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000454190 GT:AD:DP:GQ:PL 1/1:0,71:72:99:2719,202,0
3 9957455 rs1056286 C T 141.76 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=14.18;SNPEFF_AMINO_ACID_CHANGE=L539;SNPEFF_CODON_CHANGE=ctC/ctT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_9956935_9958079;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=IL17RE;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000441648 GT:AD:DP:GQ:PL 1/1:0,10:10:12.04:174,12,0
3 9959713 rs4686383 C T 310.13 PASS AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=2.041;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.107;QD=25.84;ReadPosRankSum=0.537;SNPEFF_AMINO_ACID_CHANGE=T149;SNPEFF_CODON_CHANGE=acC/acT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_9959607_9959759;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL17RC;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000295981 GT:AD:DP:GQ:PL 0/1:2,10:12:38.27:340,0,38
3 9960070 rs708567 C T 439.41 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.62;SNPEFF_AMINO_ACID_CHANGE=S111L;SNPEFF_CODON_CHANGE=tCa/tTa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_9960019_9960093;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL17RC;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000383812 GT:AD:DP:GQ:PL 1/1:0,12:12:36.10:472,36,0
3 9962157 rs783494 T C 160.16 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.03;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL17RC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469686 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:193,15,0
3 9962767 rs34198416 TATTC T 200.65 PASS AC=2;AF=1.00;AN=2;DB;DP=7;FS=0.0;HRun=0;HaplotypeScore=33.8435;IndelType=D;MQ=54.48;MQ0=1;QD=25.08;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL17RC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000440502 GT:AD:DP:GQ:PL 1/1:3,5:7:15.05:242,15,0
3 9969932 rs35444385 TGG T 1369.34 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=5.942;DB;DP=74;FS=1.936;HRun=4;HaplotypeScore=259.9439;IndelType=D;MQ=59.67;MQ0=0;MQRankSum=0.017;QD=18.5;ReadPosRankSum=1.418;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL17RC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000424206 GT:AD:DP:GQ:PL 0/1:37,37:74:99:1408,0,1768
3 9970031 rs279549 A G 1495.04 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.97;MQ0=0;QD=33.98;SNPEFF_AMINO_ACID_CHANGE=Q163R;SNPEFF_CODON_CHANGE=cAa/cGa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_9969989_9970170;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL17RC;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000416074 GT:AD:DP:GQ:PL 1/1:0,44:44:99:1528,117,0
3 9970158 rs279548 C T 1191.28 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.759;DB;DP=79;Dels=0.0;FS=1.478;HRun=0;HaplotypeScore=3.7136;MQ=59.71;MQ0=0;MQRankSum=-0.749;QD=15.08;ReadPosRankSum=-0.138;SNPEFF_AMINO_ACID_CHANGE=N205;SNPEFF_CODON_CHANGE=aaC/aaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_9969989_9970170;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL17RC;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000416074 GT:AD:DP:GQ:PL 0/1:39,39:79:99:1221,0,1276
3 9970442 rs279547 C T 249.74 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=3.663;DB;DP=26;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.66;QD=9.61;ReadPosRankSum=0.659;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL17RC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000424206 GT:AD:DP:GQ:PL 0/1:16,10:26:99:280,0,531
3 9972493 rs279545 G A 890.15 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.5;MQ0=0;QD=31.79;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL17RC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000412901 GT:AD:DP:GQ:PL 1/1:0,28:28:75.23:923,75,0
3 9975247 rs183956 C G 248.22 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.03;SNPEFF_AMINO_ACID_CHANGE=G537;SNPEFF_CODON_CHANGE=ggC/ggG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_9974637_9975304;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL17RC;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000416074 GT:AD:DP:GQ:PL 1/1:0,8:8:21.07:281,21,0
3 9975353 rs279551 A G 89.16 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.29;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL17RC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295981 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:121,9,0
3 9976159 rs279552 A G 1170.40 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.51;MQ0=0;QD=30.8;SNPEFF_AMINO_ACID_CHANGE=M13V;SNPEFF_CODON_CHANGE=Atg/Gtg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_9976104_9976296;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRELD1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000326434 GT:AD:DP:GQ:PL 1/1:0,36:38:93.25:1203,93,0
3 9991388 rs279601 G C 1376.46 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.41;SNPEFF_AMINO_ACID_CHANGE=Q138E;SNPEFF_CODON_CHANGE=Cag/Gag;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_9990785_9991856;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PRRT3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000411976 GT:AD:DP:GQ:PL 1/1:0,40:40:99:1409,105,0
3 10030236 rs496181 T C 144.67 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=29.83;MQ0=0;QD=24.11;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM111;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470827 GT:AD:DP:GQ:PL 1/1:0,6:6:15.04:177,15,0
3 10044262 rs452792 G A 242.72 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.62;MQ0=0;QD=34.67;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM111;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470827 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:276,21,0
3 10074529 rs45510294 A C 1754.21 PASS AB=0.477;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.829;DB;DP=132;Dels=0.0;FS=0.651;HRun=2;HaplotypeScore=0.8321;MQ=59.48;MQ0=0;MQRankSum=-0.105;QD=13.29;ReadPosRankSum=0.843;SNPEFF_AMINO_ACID_CHANGE=Q26H;SNPEFF_CODON_CHANGE=caA/caC;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_10074516_10074656;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FANCD2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000287647 GT:AD:DP:GQ:PL 0/1:63,69:132:99:1784,0,1899
3 10085035 rs803335 G T 135.40 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.85;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FANCD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000431693 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:168,12,0
3 10088299 rs112887807 C T 54.77 QDFilter2 AB=0.8;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.337;DB;DP=50;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.1623;MQ=47.17;MQ0=0;MQRankSum=-1.691;QD=1.1;ReadPosRankSum=0.245;SNPEFF_AMINO_ACID_CHANGE=S390;SNPEFF_CODON_CHANGE=agC/agT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_10088264_10088407;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FANCD2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000287647 GT:AD:DP:GQ:PL 0/1:40,10:50:84.76:85,0,1222
3 10088308 rs72492998 T C 54.87 QDFilter2 AB=0.766;AC=1;AF=0.50;AN=2;BaseQRankSum=0.173;DB;DP=47;Dels=0.0;FS=3.837;HRun=1;HaplotypeScore=0.6651;MQ=46.81;MQ0=0;MQRankSum=-1.798;QD=1.17;ReadPosRankSum=0.439;SNPEFF_AMINO_ACID_CHANGE=T393;SNPEFF_CODON_CHANGE=acT/acC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_10088264_10088407;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FANCD2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000287647 GT:AD:DP:GQ:PL 0/1:36,11:47:84.86:85,0,1156
3 10088343 rs73126218 A G 75.52 QDFilter2 AB=0.778;AC=1;AF=0.50;AN=2;BaseQRankSum=0.202;DB;DP=54;Dels=0.0;FS=1.486;HRun=0;HaplotypeScore=0.0;MQ=44.73;MQ0=1;MQRankSum=-1.753;QD=1.4;ReadPosRankSum=1.838;SNPEFF_AMINO_ACID_CHANGE=N405S;SNPEFF_CODON_CHANGE=aAt/aGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_10088264_10088407;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FANCD2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000287647 GT:AD:DP:GQ:PL 0/1:42,12:54:99:106,0,1250
3 10089480 rs116621886 C T 192.85 PASS AB=0.725;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.757;DB;DP=40;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.6651;MQ=52.51;MQ0=0;MQRankSum=-4.18;QD=4.82;ReadPosRankSum=-1.151;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FANCD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287647 GT:AD:DP:GQ:PL 0/1:29,11:40:99:223,0,1081
3 10089497 rs114101942 C T 240.17 PASS AB=0.702;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.664;DB;DP=47;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.6651;MQ=51.9;MQ0=0;MQRankSum=-4.99;QD=5.11;ReadPosRankSum=0.035;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FANCD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287647 GT:AD:DP:GQ:PL 0/1:33,14:47:99:270,0,1216
3 10089499 . A G 247.69 PASS AB=0.696;AC=1;AF=0.50;AN=2;BaseQRankSum=1.062;DP=46;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.6651;MQ=51.71;MQ0=0;MQRankSum=-4.5;QD=5.38;ReadPosRankSum=-0.012;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FANCD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287647 GT:AD:DP:GQ:PL 0/1:32,14:46:99:278,0,1122
3 10089509 rs77520528 A G 221.93 PASS AB=0.707;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.281;DB;DP=58;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=51.97;MQ0=0;MQRankSum=-5.62;QD=3.83;ReadPosRankSum=1.486;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FANCD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287647 GT:AD:DP:GQ:PL 0/1:41,17:58:99:252,0,1491
3 10089549 rs113574694 TACTA T 242.07 PASS AB=0.889;AC=1;AF=0.50;AN=2;BaseQRankSum=4.844;DB;DP=82;FS=7.127;HRun=0;HaplotypeScore=486.9397;IndelType=D;MQ=54.68;MQ0=1;MQRankSum=-4.812;QD=2.75;ReadPosRankSum=0.769;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FANCD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287647 GT:AD:DP:GQ:PL 0/1:77,11:82:99:281,0,5277
3 10089723 rs12330369 G A 293.45 PASS AB=0.703;AC=1;AF=0.50;AN=2;BaseQRankSum=1.239;DB;DP=74;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.7687;MQ=53.49;MQ0=1;MQRankSum=-4.051;QD=3.97;ReadPosRankSum=-0.669;SNPEFF_AMINO_ACID_CHANGE=T467;SNPEFF_CODON_CHANGE=acG/acA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_10089601_10089735;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FANCD2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000287647 GT:AD:DP:GQ:PL 0/1:52,22:74:99:323,0,1729
3 10089738 rs62245508 A G 135.89 PASS AB=0.723;AC=1;AF=0.50;AN=2;BaseQRankSum=1.474;DB;DP=65;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.5386;MQ=52.93;MQ0=1;MQRankSum=-4.727;QD=2.09;ReadPosRankSum=-0.775;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FANCD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287647 GT:AD:DP:GQ:PL 0/1:47,18:65:99:166,0,1605
3 10089749 rs12330599 T C 76.09 QDFilter2 AB=0.754;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.176;DB;DP=57;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=4.4509;MQ=53.49;MQ0=0;MQRankSum=-4.607;QD=1.33;ReadPosRankSum=-0.51;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FANCD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000483276 GT:AD:DP:GQ:PL 0/1:43,14:57:99:106,0,1471
3 10089815 rs77169020 A C 55.59 PASS AB=0.706;AC=1;AF=0.50;AN=2;BaseQRankSum=2.266;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=52.46;MQ0=0;MQRankSum=-3.215;QD=3.27;ReadPosRankSum=-1.634;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FANCD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000483276 GT:AD:DP:GQ:PL 0/1:12,5:17:85.59:86,0,413
3 10089828 rs77263972 G A 37.20 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.929;DB;DP=12;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=51.27;MQ0=0;MQRankSum=-2.637;QD=3.1;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FANCD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000483276 GT:AD:DP:GQ:PL 0/1:8,4:12:67.20:67,0,303
3 10089834 rs74351786 A T 37.21 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=2.637;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=51.27;MQ0=0;MQRankSum=-2.637;QD=3.1;ReadPosRankSum=0.289;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FANCD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000483276 GT:AD:DP:GQ:PL 0/1:8,4:12:67.20:67,0,284
3 10089841 rs74509181 C A 43.22 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.741;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=49.34;MQ0=0;MQRankSum=-2.383;QD=4.32;ReadPosRankSum=1.036;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FANCD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000483276 GT:AD:DP:GQ:PL 0/1:6,4:10:73.22:73,0,222
3 10089852 rs75274508 A G 46.23 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=0.876;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=48.01;MQ0=0;MQRankSum=-2.219;QD=5.14;ReadPosRankSum=2.219;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FANCD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000483276 GT:AD:DP:GQ:PL 0/1:5,4:9:76.23:76,0,185
3 10089886 rs73811818 G T 52.25 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.754;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=43.99;MQ0=0;MQRankSum=-1.754;QD=7.46;ReadPosRankSum=-0.55;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FANCD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000483276 GT:AD:DP:GQ:PL 0/1:3,4:7:82.25:82,0,109
3 10091035 rs10222446 T C 593.94 PASS AB=0.534;AC=1;AF=0.50;AN=2;BaseQRankSum=3.678;DB;DP=88;Dels=0.0;FS=1.038;HRun=1;HaplotypeScore=0.734;MQ=45.99;MQ0=11;MQRankSum=-7.036;QD=6.75;ReadPosRankSum=0.257;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FANCD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000483276 GT:AD:DP:GQ:PL 0/1:47,41:88:99:624,0,1540
3 10103811 rs34177396 TA T 331.19 PASS AB=0.66;AC=1;AF=0.50;AN=2;BaseQRankSum=3.587;DB;DP=33;FS=12.095;HRun=9;HaplotypeScore=77.5034;IndelType=D;MQ=54.79;MQ0=0;MQRankSum=2.115;QD=10.04;ReadPosRankSum=-0.113;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FANCD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287647 GT:AD:DP:GQ:PL 0/1:16,17:33:99:370,0,422
3 10105847 rs2347585 A G 88.62 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=45.96;MQ0=0;QD=29.54;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FANCD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287647 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:121,9,0
3 10122745 rs45622438 C T 422.24 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.317;DB;DP=36;Dels=0.0;FS=1.998;HRun=1;HaplotypeScore=0.0;MQ=59.36;MQ0=0;MQRankSum=0.583;QD=11.73;ReadPosRankSum=-0.083;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C3orf24;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000431315 GT:AD:DP:GQ:PL 0/1:21,15:36:99:452,0,657
3 10142949 rs3172417 C T 297.73 PASS AB=0.593;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.554;DB;DP=27;Dels=0.0;FS=2.098;HRun=0;HaplotypeScore=0.9665;MQ=55.58;MQ0=0;MQRankSum=0.962;QD=11.03;ReadPosRankSum=0.271;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C3orf24;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000450660 GT:AD:DP:GQ:PL 0/1:16,11:27:99:328,0,484
3 10188363 rs34661876 A G 646.94 PASS AB=0.588;AC=1;AF=0.50;AN=2;BaseQRankSum=2.211;DB;DP=52;Dels=0.0;FS=11.591;HRun=0;HaplotypeScore=0.9989;MQ=58.47;MQ0=0;MQRankSum=0.775;QD=12.44;ReadPosRankSum=0.297;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VHL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256474 GT:AD:DP:GQ:PL 0/1:30,21:52:99:677,0,942
3 10188428 rs1678607 T G 550.06 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.63;MQ0=0;QD=32.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VHL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256474 GT:AD:DP:GQ:PL 1/1:0,17:17:45.14:583,45,0
3 10219729 rs1681663 A G 346.65 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.956;DB;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=0.692;QD=15.76;ReadPosRankSum=-0.495;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IRAK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256458 GT:AD:DP:GQ:PL 0/1:10,12:22:99:377,0,249
3 10241875 rs696041 C T 477.79 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.309;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.66;MQ0=0;MQRankSum=0.524;QD=23.89;ReadPosRankSum=-0.524;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IRAK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256458 GT:AD:DP:GQ:PL 0/1:5,15:20:99:508,0,102
3 10241899 rs263409 G A 962.64 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.14;MQ0=0;QD=35.65;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IRAK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256458 GT:AD:DP:GQ:PL 1/1:0,27:27:75.25:996,75,0
3 10241987 rs263410 A C 1039.52 PASS AB=0.557;AC=1;AF=0.50;AN=2;BaseQRankSum=0.218;DB;DP=88;Dels=0.0;FS=6.599;HRun=2;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=0.286;QD=11.81;ReadPosRankSum=-1.016;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IRAK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256458 GT:AD:DP:GQ:PL 0/1:49,39:88:99:1070,0,1561
3 10242243 rs263411 G A 496.70 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.946;DB;DP=30;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.298;QD=16.56;ReadPosRankSum=1.518;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IRAK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256458 GT:AD:DP:GQ:PL 0/1:10,20:30:99:527,0,333
3 10251196 rs459864 A G 2129.61 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.6651;MQ=59.2;MQ0=0;QD=36.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IRAK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256458 GT:AD:DP:GQ:PL 1/1:0,58:58:99:2163,166,0
3 10258493 rs2302862 T C 969.04 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.89;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IRAK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256458 GT:AD:DP:GQ:PL 1/1:0,27:27:72.24:1002,72,0
3 10258514 rs2302861 T C 1302.57 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.63;MQ0=0;QD=38.31;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IRAK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256458 GT:AD:DP:GQ:PL 1/1:0,34:34:99:1336,102,0
3 10258762 rs2302860 G C 1261.28 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.03;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IRAK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256458 GT:AD:DP:GQ:PL 1/1:0,42:42:99:1294,111,0
3 10261237 rs3895949 A C 50.34 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.17;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IRAK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256458 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
3 10261248 rs3895948 T C 47.39 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.69;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IRAK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256458 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
3 10261294 rs3895947 A G 71.01 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.67;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IRAK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256458 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:103,9,0
3 10261594 rs11465911 C T 83.39 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.8;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IRAK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256458 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:115,9,0
3 10264480 rs3844283 C G 2198.26 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.04;SNPEFF_AMINO_ACID_CHANGE=L392V;SNPEFF_CODON_CHANGE=Ctg/Gtg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_10264320_10264515;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IRAK2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000256458 GT:AD:DP:GQ:PL 1/1:0,61:61:99:2231,166,0
3 10276163 rs708035 T A 1236.07 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.4932;MQ=58.74;MQ0=0;QD=33.41;SNPEFF_AMINO_ACID_CHANGE=D431E;SNPEFF_CODON_CHANGE=gaT/gaA;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_10276143_10276343;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IRAK2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000256458 GT:AD:DP:GQ:PL 1/1:0,37:37:96.31:1269,96,0
3 10280233 rs778044 C T 50.52 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IRAK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256458 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
3 10280753 rs11465932 G A 288.65 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.43;MQ0=0;QD=24.05;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IRAK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256458 GT:AD:DP:GQ:PL 1/1:0,12:12:27.07:322,27,0
3 10283670 rs56369677 G GA 109.03 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.742;DB;DP=7;FS=0.0;HRun=13;HaplotypeScore=35.4926;IndelType=I;MQ=64.48;MQ0=0;MQRankSum=0.742;QD=15.58;ReadPosRankSum=0.742;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IRAK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256458 GT:AD:DP:GQ:PL 1/1:1,6:7:0.44:147,0,0
3 10283716 rs796552 A G 766.75 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=61.46;MQ0=0;QD=34.85;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IRAK2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000256458 GT:AD:DP:GQ:PL 1/1:0,22:22:66.19:800,66,0
3 10290839 rs2072577 G A 157.55 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.811;DB;DP=13;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.935;QD=12.12;ReadPosRankSum=-1.2;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TATDN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287652 GT:AD:DP:GQ:PL 0/1:6,7:13:99:188,0,205
3 10302172 rs394558 G A 657.79 PASS AB=0.51;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.607;DB;DP=49;Dels=0.0;FS=2.553;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.33;QD=13.42;ReadPosRankSum=-1.202;SNPEFF_AMINO_ACID_CHANGE=V256I;SNPEFF_CODON_CHANGE=Gtc/Atc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_10301821_10302354;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TATDN2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000287652 GT:AD:DP:GQ:PL 0/1:25,24:49:99:688,0,810
3 10302369 rs451952 T C 815.04 PASS AB=0.554;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.104;DB;DP=66;Dels=0.0;FS=3.095;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.809;QD=12.35;ReadPosRankSum=-0.519;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TATDN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287652 GT:AD:DP:GQ:PL 0/1:36,29:66:99:845,0,1129
3 10302395 rs439483 G C 621.79 PASS AB=0.522;AC=1;AF=0.50;AN=2;BaseQRankSum=0.495;DB;DP=46;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.067;QD=13.52;ReadPosRankSum=0.319;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TATDN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287652 GT:AD:DP:GQ:PL 0/1:24,22:46:99:652,0,844
3 10302479 rs402330 G A 301.12 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.46;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TATDN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287652 GT:AD:DP:GQ:PL 1/1:0,9:9:27.08:334,27,0
3 10318230 rs35845263 A AT 284.63 PASS AB=0.757;AC=1;AF=0.50;AN=2;BaseQRankSum=3.009;DB;DP=28;FS=0.0;HRun=1;HaplotypeScore=111.9189;IndelType=I;MQ=52.09;MQ0=0;MQRankSum=-4.192;QD=10.17;ReadPosRankSum=1.363;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TATDN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287652 GT:AD:DP:GQ:PL 0/1:19,9:28:99:324,0,620
3 10318258 . AT A 242.37 PASS AB=0.743;AC=1;AF=0.50;AN=2;BaseQRankSum=3.433;DP=26;FS=0.0;HRun=2;HaplotypeScore=129.6432;IndelType=D;MQ=51.43;MQ0=0;MQRankSum=-4.0;QD=9.32;ReadPosRankSum=0.22;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TATDN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287652 GT:AD:DP:GQ:PL 0/1:17,9:26:99:281,0,550
3 10320865 rs2075355 A G 136.20 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=1.031;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.87;MQ0=0;MQRankSum=0.143;QD=12.38;ReadPosRankSum=0.825;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TATDN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426850 GT:AD:DP:GQ:PL 0/1:6,5:11:99:166,0,215
3 10328250 rs35683 A C 54.41 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.21;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GHRL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000425479 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:86,6,0
3 10342876 rs696221 C T 2047.68 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.19;MQ0=0;QD=35.92;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SEC13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000476597 GT:AD:DP:GQ:PL 1/1:0,57:57:99:2081,159,0
3 10345921 rs40515 C T 432.11 PASS AB=0.486;AC=1;AF=0.50;AN=2;BaseQRankSum=1.747;DB;DP=35;Dels=0.0;FS=7.574;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.126;QD=12.35;ReadPosRankSum=-0.594;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SEC13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000337354 GT:AD:DP:GQ:PL 0/1:17,18:35:99:462,0,557
3 10346996 rs34924741 T TA 131.33 PASS AC=2;AF=1.00;AN=2;DB;DP=6;FS=0.0;HRun=8;HaplotypeScore=15.3263;IndelType=I;MQ=60.0;MQ0=0;QD=21.89;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SEC13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000337354 GT:AD:DP:GQ:PL 1/1:1,5:6:15.04:173,15,0
3 10353550 rs35670 T C 148.35 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=2.383;DB;DP=10;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.741;QD=14.84;ReadPosRankSum=0.0;SNPEFF_AMINO_ACID_CHANGE=G183;SNPEFF_CODON_CHANGE=ggA/ggG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_10353257_10353782;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SEC13;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000397105 GT:AD:DP:GQ:PL 0/1:4,6:10:99:178,0,132
3 10353626 rs35671 C T 224.41 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=1.43;DB;DP=30;Dels=0.0;FS=1.585;HRun=0;HaplotypeScore=0.8667;MQ=59.23;MQ0=0;MQRankSum=-0.11;QD=7.48;ReadPosRankSum=-0.77;SNPEFF_AMINO_ACID_CHANGE=R158H;SNPEFF_CODON_CHANGE=cGt/cAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_10353257_10353782;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SEC13;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000397105 GT:AD:DP:GQ:PL 0/1:20,10:30:99:254,0,526
3 10370486 rs4327369 G C 122.27 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.71;DB;DP=15;Dels=0.0;FS=8.616;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.194;QD=8.15;ReadPosRankSum=0.452;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP2B2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468426 GT:AD:DP:GQ:PL 0/1:9,6:15:99:152,0,241
3 10379923 rs35678 C T 760.62 PASS AB=0.351;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.225;DB;DP=37;Dels=0.0;FS=5.225;HRun=0;HaplotypeScore=0.0;MQ=59.38;MQ0=0;MQRankSum=-0.207;QD=20.56;ReadPosRankSum=0.239;SNPEFF_AMINO_ACID_CHANGE=A1054;SNPEFF_CODON_CHANGE=gcG/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_10379860_10380042;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP2B2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000535386 GT:AD:DP:GQ:PL 0/1:13,24:37:99:791,0,378
3 10381784 rs154243 A G 89.74 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.44;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP2B2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342354 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:122,9,0
3 10382111 rs171337 T C 1132.06 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.734;MQ=59.43;MQ0=0;QD=34.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP2B2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342354 GT:AD:DP:GQ:PL 1/1:0,33:33:90.29:1165,90,0
3 10382148 rs154242 G A 1316.89 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9947;MQ=58.2;MQ0=0;QD=33.77;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP2B2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342354 GT:AD:DP:GQ:PL 1/1:0,39:39:99:1350,105,0
3 10387059 rs241509 C A 316.48 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.472;DB;DP=26;Dels=0.0;FS=1.935;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.087;QD=12.17;ReadPosRankSum=0.087;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP2B2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342354 GT:AD:DP:GQ:PL 0/1:14,12:26:99:346,0,388
3 10400231 rs3774178 T C 43.86 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=14.62;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP2B2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342354 GT:AD:DP:GQ:PL 0/1:1,2:3:32.20:74,0,32
3 10400643 rs28113 G A 165.16 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=0.135;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.9243;MQ=58.2;MQ0=0;MQRankSum=-1.635;QD=12.7;ReadPosRankSum=1.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP2B2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342354 GT:AD:DP:GQ:PL 0/1:6,7:13:99:195,0,175
3 10401856 rs2278554 G T 114.09 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.381;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=57.28;MQ0=0;MQRankSum=1.092;QD=8.15;ReadPosRankSum=2.313;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP2B2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342354 GT:AD:DP:GQ:PL 0/1:8,6:14:99:144,0,269
3 10413341 rs55970333 C G 67.12 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=1.001;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.573;QD=7.46;ReadPosRankSum=0.248;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP2B2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342354 GT:AD:DP:GQ:PL 0/1:6,3:9:97.11:97,0,200
3 10413715 rs2289274 G A 542.65 PASS AB=0.591;AC=1;AF=0.50;AN=2;BaseQRankSum=1.778;DB;DP=44;Dels=0.0;FS=1.35;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=-0.346;QD=12.33;ReadPosRankSum=0.967;SNPEFF_AMINO_ACID_CHANGE=N335;SNPEFF_CODON_CHANGE=aaC/aaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_10413493_10413735;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP2B2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000452124 GT:AD:DP:GQ:PL 0/1:26,18:44:99:573,0,854
3 10427017 rs73014694 G C 85.85 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.876;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.159;QD=9.54;ReadPosRankSum=0.729;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP2B2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000480680 GT:AD:DP:GQ:PL 0/1:4,5:9:99:116,0,102
3 10428339 rs41293351 C T 153.03 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=1.92;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.322;QD=19.13;ReadPosRankSum=0.322;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP2B2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000480680 GT:AD:DP:GQ:PL 0/1:3,5:8:90.79:183,0,91
3 10429908 rs45596135 A T 2001.61 PASS AB=0.446;AC=1;AF=0.50;AN=2;BaseQRankSum=-6.067;DB;DP=121;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=4.7195;MQ=59.04;MQ0=0;MQRankSum=0.349;QD=16.54;ReadPosRankSum=2.087;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP2B2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342354 GT:AD:DP:GQ:PL 0/1:54,67:121:99:2032,0,1679
3 10442439 rs9647359 G A 71.31 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.77;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP2B2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342354 GT:AD:DP:GQ:PL 1/1:0,3:3:9.02:103,9,0
3 10442779 rs26797 C T 31.93 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=1.495;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9993;MQ=60.0;MQ0=0;MQRankSum=-0.922;QD=3.99;ReadPosRankSum=1.495;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP2B2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342354 GT:AD:DP:GQ:PL 0/1:5,2:8:61.92:62,0,176
3 10967739 rs2272395 T C 2458.46 PASS AB=0.515;AC=1;AF=0.50;AN=2;BaseQRankSum=0.383;DB;DP=203;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.997;MQ=59.55;MQ0=0;MQRankSum=1.612;QD=12.11;ReadPosRankSum=1.003;SNPEFF_AMINO_ACID_CHANGE=P390;SNPEFF_CODON_CHANGE=ccT/ccC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_10967690_10967802;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC6A11;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000254488 GT:AD:DP:GQ:PL 0/1:104,98:203:99:2488,0,2998
3 10975994 rs4434127 G C 78.43 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.231;QD=15.69;ReadPosRankSum=-0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC6A11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000254488 GT:AD:DP:GQ:PL 0/1:2,3:5:69.36:108,0,69
3 10976876 rs2245532 A G 665.04 PASS AB=0.632;AC=1;AF=0.50;AN=2;BaseQRankSum=2.768;DB;DP=68;Dels=0.0;FS=2.51;HRun=0;HaplotypeScore=1.9226;MQ=60.0;MQ0=0;MQRankSum=0.369;QD=9.78;ReadPosRankSum=1.108;SNPEFF_AMINO_ACID_CHANGE=T579;SNPEFF_CODON_CHANGE=acA/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_10976715_10976885;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC6A11;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000254488 GT:AD:DP:GQ:PL 0/1:43,25:68:99:695,0,1173
3 11059847 rs2928078 G A 196.64 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.77;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC6A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000425938 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:230,18,0
3 11075503 rs2246543 T C 396.97 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.09;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC6A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287766 GT:AD:DP:GQ:PL 1/1:0,11:11:33.11:430,33,0
3 11276399 rs347614 T C 418.94 PASS AB=0.292;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.921;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.762;QD=17.46;ReadPosRankSum=-0.953;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HRH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000413416 GT:AD:DP:GQ:PL 0/1:7,17:24:99:449,0,223
3 11300707 rs901865 T C 1038.32 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.49;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_3_11300689_11300761;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HRH1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000413416 GT:AD:DP:GQ:PL 1/1:0,31:31:81.25:1071,81,0
3 11518755 rs4684782 T C 379.16 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.17;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATG7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354449 GT:AD:DP:GQ:PL 1/1:0,13:13:36.09:412,36,0
3 11551856 . TA T 59.25 QDFilter2 AB=0.8;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.866;DP=52;FS=0.0;HRun=15;HaplotypeScore=316.278;IndelType=D;MQ=56.69;MQ0=0;MQRankSum=1.097;QD=1.14;ReadPosRankSum=1.184;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATG7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354449 GT:AD:DP:GQ:PL 0/1:36,11:52:98.28:98,0,549
3 11643465 rs2276749 T C 924.13 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.81;SNPEFF_AMINO_ACID_CHANGE=I28M;SNPEFF_CODON_CHANGE=atA/atG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_11643307_11643496;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VGLL4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000458499 GT:AD:DP:GQ:PL 1/1:0,31:31:72.23:957,72,0
3 11667714 rs3856802 C T 300.18 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.35;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VGLL4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273038 GT:AD:DP:GQ:PL 1/1:0,9:9:24.08:333,24,0
3 11831953 rs9267 C T 1228.82 PASS AB=0.52;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.358;DB;DP=98;Dels=0.0;FS=8.025;HRun=0;HaplotypeScore=1.7608;MQ=59.76;MQ0=0;MQRankSum=-0.235;QD=12.54;ReadPosRankSum=0.612;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=TAMM41;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000414736 GT:AD:DP:GQ:PL 0/1:51,47:98:99:1259,0,1692
3 11848923 rs3839098 CCACT C 574.86 PASS AB=0.56;AC=1;AF=0.50;AN=2;BaseQRankSum=2.073;DB;DP=14;FS=0.0;HRun=0;HaplotypeScore=70.4077;IndelType=D;MQ=56.52;MQ0=0;MQRankSum=-0.888;QD=41.06;ReadPosRankSum=-0.691;SNPEFF_EFFECT=FRAME_SHIFT;SNPEFF_EXON_ID=exon_3_11848768_11849369;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=TAMM41;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000444133 GT:AD:DP:GQ:PL 0/1:3,11:14:99:614,0,135
3 11871215 rs11551661 T C 1829.06 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.523;DB;DP=136;Dels=0.0;FS=7.801;HRun=0;HaplotypeScore=1.8932;MQ=59.83;MQ0=0;MQRankSum=0.426;QD=13.45;ReadPosRankSum=-0.136;SNPEFF_AMINO_ACID_CHANGE=I179V;SNPEFF_CODON_CHANGE=Ata/Gta;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_11871188_11871338;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=TAMM41;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000273037 GT:AD:DP:GQ:PL 0/1:72,63:136:99:1859,0,2044
3 11880816 rs303862 C A 329.83 PASS AB=0.45;AC=1;AF=0.50;AN=2;BaseQRankSum=3.723;DB;DP=20;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.608;QD=16.49;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=TAMM41;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000494388 GT:AD:DP:GQ:PL 0/1:9,11:20:99:360,0,264
3 11885815 rs303854 T C 55.58 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.754;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=7.94;ReadPosRankSum=-0.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=TAMM41;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273037 GT:AD:DP:GQ:PL 0/1:4,3:7:85.57:86,0,142
3 11887991 rs408600 C G 327 PASS AB=0.59;AC=1;AF=0.50;AN=2;BaseQRankSum=1.379;DB;DP=39;Dels=0.0;FS=1.377;HRun=2;HaplotypeScore=1.9025;MQ=60.0;MQ0=0;MQRankSum=-1.152;QD=8.38;ReadPosRankSum=-0.99;SNPEFF_AMINO_ACID_CHANGE=P40;SNPEFF_CODON_CHANGE=ccG/ccC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_11887976_11888393;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=TAMM41;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000273037 GT:AD:DP:GQ:PL 0/1:23,16:39:99:357,0,622
3 11912622 rs450931 G A 155.56 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=1.034;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=53.99;MQ0=0;MQRankSum=-2.228;QD=14.14;ReadPosRankSum=0.0;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC090958.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000437591 GT:AD:DP:GQ:PL 0/1:4,7:11:99:186,0,131
3 11912797 rs62246062 C T 663.48 MQFilter40 AB=0.348;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.182;DB;DP=66;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=39.16;MQ0=10;MQRankSum=-6.329;QD=10.05;ReadPosRankSum=0.266;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC090958.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000437591 GT:AD:DP:GQ:PL 0/1:23,43:66:99:693,0,685
3 11925274 rs182632659 A T 91.31 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.517;DB;DP=17;Dels=0.0;FS=23.314;HRun=0;HaplotypeScore=0.0;MQ=41.48;MQ0=2;MQRankSum=-3.163;QD=5.37;ReadPosRankSum=0.065;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC090958.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000437591 GT:AD:DP:GQ:PL 0/1:8,8:17:99:121,0,269
3 11925277 rs2470563 C T 85.29 PASS AB=0.579;AC=1;AF=0.50;AN=2;BaseQRankSum=0.705;DB;DP=19;Dels=0.0;FS=21.553;HRun=2;HaplotypeScore=0.7887;MQ=42.9;MQ0=2;MQRankSum=-3.308;QD=4.49;ReadPosRankSum=1.464;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC090958.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000437591 GT:AD:DP:GQ:PL 0/1:11,8:19:99:115,0,356
3 11925358 rs2470562 T C 438.41 PASS AB=0.486;AC=1;AF=0.50;AN=2;BaseQRankSum=1.898;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=52.82;MQ0=0;MQRankSum=-3.086;QD=12.53;ReadPosRankSum=0.281;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC090958.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000437591 GT:AD:DP:GQ:PL 0/1:17,18:35:99:468,0,576
3 11925489 rs2470561 C T 529.90 PASS AB=0.529;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.104;DB;DP=68;Dels=0.0;FS=6.169;HRun=1;HaplotypeScore=2.4021;MQ=46.85;MQ0=4;MQRankSum=-6.191;QD=7.79;ReadPosRankSum=-1.983;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC090958.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000437591 GT:AD:DP:GQ:PL 0/1:36,32:68:99:560,0,1178
3 11925610 rs421090 C T 728.21 PASS AB=0.525;AC=1;AF=0.50;AN=2;BaseQRankSum=2.65;DB;DP=61;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.7219;MQ=52.73;MQ0=0;MQRankSum=-5.062;QD=11.94;ReadPosRankSum=0.802;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=AC090958.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000437591 GT:AD:DP:GQ:PL 0/1:32,29:61:99:758,0,1066
3 12045864 rs80251534 A T 82.84 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.61;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SYN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426379 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:115,9,0
3 12045891 rs79624759 T C 282.70 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.34;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_3_12045876_12046428;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SYN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426379 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:316,24,0
3 12045899 rs77368781 C T 199.99 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.0;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_3_12045876_12046428;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SYN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426379 GT:AD:DP:GQ:PL 1/1:0,8:8:21.04:233,21,0
3 12045923 rs73135622 A C 359.03 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.64;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_3_12045876_12046428;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SYN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426379 GT:AD:DP:GQ:PL 1/1:0,11:11:30.10:392,30,0
3 12045986 rs67270413 G A 326.88 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.35;MQ0=0;QD=25.14;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_3_12045876_12046428;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SYN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426379 GT:AD:DP:GQ:PL 1/1:0,13:13:27.09:360,27,0
3 12046013 rs72624441 A C 538.19 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=51.77;MQ0=0;QD=29.9;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_3_12045876_12046428;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SYN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426379 GT:AD:DP:GQ:PL 1/1:0,18:18:48.11:571,48,0
3 12046076 rs2618395 T C 585.04 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=48.72;MQ0=0;QD=32.5;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SYN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000540660 GT:AD:DP:GQ:PL 1/1:0,18:18:51.15:618,51,0
3 12046131 rs74213196 A C 39.99 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=34.44;MQ0=0;QD=5.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SYN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000540660 GT:AD:DP:GQ:PL 1/1:0,8:8:6.02:71,6,0
3 12046148 rs2623874 C T 42.84 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=35.14;MQ0=0;QD=6.12;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SYN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000540660 GT:AD:DP:GQ:PL 1/1:0,7:7:6.02:74,6,0
3 12195622 rs308952 A G 102.49 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.62;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SYN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000424884 GT:AD:DP:GQ:PL 1/1:0,4:4:12.03:135,12,0
3 12208652 rs795008 A G 291.24 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SYN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000540660 GT:AD:DP:GQ:PL 1/1:0,9:9:24.08:324,24,0
3 12208671 rs795009 G T 414.90 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SYN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000540660 GT:AD:DP:GQ:PL 1/1:0,12:12:33.11:448,33,0
3 12208995 rs795010 T A 91.60 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.53;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SYN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000540660 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:124,9,0
3 12211046 rs795011 G T 52.22 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.11;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SYN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000447752 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:83,6,0
3 12229015 rs794999 A G 326.83 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.24;SNPEFF_AMINO_ACID_CHANGE=T438A;SNPEFF_CODON_CHANGE=Acc/Gcc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_12228869_12229112;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SYN2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000540660 GT:AD:DP:GQ:PL 1/1:0,12:12:30.04:360,30,0
3 12229237 rs35294573 TG T 109.41 PASS AC=2;AF=1.00;AN=2;DB;DP=6;FS=0.0;HRun=2;HaplotypeScore=38.63;IndelType=D;MQ=53.82;MQ0=0;QD=18.23;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SYN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000425297 GT:AD:DP:GQ:PL 1/1:1,5:6:12.04:151,12,0
3 12232074 rs310764 A G 5389.80 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.178;DB;DP=160;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.6651;MQ=59.51;MQ0=0;MQRankSum=-0.844;QD=33.69;ReadPosRankSum=1.066;SNPEFF_AMINO_ACID_CHANGE=A498;SNPEFF_CODON_CHANGE=gcA/gcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_12231990_12232907;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SYN2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000540660 GT:AD:DP:GQ:PL 1/1:1,159:160:99:5390,374,0
3 12232208 rs310765 T G 670.90 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.27;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SYN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000432424 GT:AD:DP:GQ:PL 1/1:0,18:18:54.16:704,54,0
3 12447153 rs1151999 G T 37.45 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=51.77;MQ0=0;QD=12.48;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPARG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287820 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:69,6,0
3 12447814 rs1797895 C G 715.82 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=39.77;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPARG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287820 GT:AD:DP:GQ:PL 1/1:0,18:18:54.18:749,54,0
3 12537955 rs299651 T A 552.53 PASS AB=0.459;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.606;DB;DP=37;Dels=0.0;FS=6.303;HRun=0;HaplotypeScore=1.6545;MQ=59.75;MQ0=0;MQRankSum=-0.747;QD=14.93;ReadPosRankSum=-1.204;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TSEN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284995 GT:AD:DP:GQ:PL 0/1:17,20:37:99:583,0,598
3 12560763 rs1618545 A T 614.79 PASS AB=0.378;AC=1;AF=0.50;AN=2;BaseQRankSum=0.548;DB;DP=37;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.204;QD=16.62;ReadPosRankSum=1.989;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TSEN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284995 GT:AD:DP:GQ:PL 0/1:14,23:37:99:645,0,408
3 12570572 rs299632 C T 116.70 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=1.067;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=14.59;ReadPosRankSum=-1.067;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TSEN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000446004 GT:AD:DP:GQ:PL 0/1:2,6:8:56.65:147,0,57
3 12613866 rs2648307 T C 52.63 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.684;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.956;QD=6.58;ReadPosRankSum=-1.517;SNPEFF_AMINO_ACID_CHANGE=H169;SNPEFF_CODON_CHANGE=caT/caC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_12613568_12613872;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MKRN2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000411987 GT:AD:DP:GQ:PL 0/1:5,3:8:82.62:83,0,184
3 12616533 rs3773341 G A 181.81 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.447;DB;DP=10;Dels=0.0;FS=3.31;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.741;QD=18.18;ReadPosRankSum=0.741;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MKRN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000170447 GT:AD:DP:GQ:PL 0/1:4,6:10:99:212,0,124
3 12618262 rs9855183 C T 167.34 PASS AB=0.529;AC=1;AF=0.50;AN=2;BaseQRankSum=1.27;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.23;MQ0=0;MQRankSum=1.376;QD=9.84;ReadPosRankSum=0.741;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MKRN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000170447 GT:AD:DP:GQ:PL 0/1:9,8:17:99:197,0,229
3 12626516 rs3729931 G A 382.99 PASS AB=0.596;AC=1;AF=0.50;AN=2;BaseQRankSum=0.131;DB;DP=52;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.932;QD=7.37;ReadPosRankSum=1.548;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MKRN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000170447 GT:AD:DP:GQ:PL 0/1:31,21:52:99:413,0,844
3 12628920 rs2290159 G C 505.85 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.596;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.133;QD=21.08;ReadPosRankSum=-1.014;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MKRN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000170447 GT:AD:DP:GQ:PL 0/1:9,15:24:99:536,0,303
3 12641518 rs2246390 A G 430.40 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.187;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.28;MQ0=0;MQRankSum=0.32;QD=13.45;ReadPosRankSum=-2.28;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RAF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000416093 GT:AD:DP:GQ:PL 0/1:16,16:32:99:460,0,545
3 12645007 rs2596828 C T 552.52 PASS AB=0.651;AC=1;AF=0.50;AN=2;BaseQRankSum=3.715;DB;DP=63;Dels=0.0;FS=1.067;HRun=0;HaplotypeScore=0.5784;MQ=59.63;MQ0=0;MQRankSum=1.228;QD=8.77;ReadPosRankSum=-1.023;SNPEFF_AMINO_ACID_CHANGE=A288;SNPEFF_CODON_CHANGE=gcG/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_12644977_12645036;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RAF1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000442415 GT:AD:DP:GQ:PL 0/1:41,22:63:99:583,0,1012
3 12650482 rs2454440 T A 294.32 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.7;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RAF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000251849 GT:AD:DP:GQ:PL 1/1:0,9:9:24.08:327,24,0
3 12660291 rs3729926 C T 55.50 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=0.382;DB;DP=12;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.566;QD=4.63;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RAF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000251849 GT:AD:DP:GQ:PL 0/1:9,3:12:85.49:85,0,265
3 12776428 rs3732687 A C 34.26 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.026;QD=8.57;ReadPosRankSum=1.026;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM40;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485124 GT:AD:DP:GQ:PL 0/1:2,2:4:64.25:64,0,67
3 12779409 rs2271209 A G 53.73 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.573;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=0.248;QD=5.97;ReadPosRankSum=-0.573;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM40;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264728 GT:AD:DP:GQ:PL 0/1:6,3:9:83.72:84,0,212
3 12791172 rs937915 T C 326.68 PASS AB=0.45;AC=1;AF=0.50;AN=2;BaseQRankSum=2.735;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.84;MQ0=0;MQRankSum=1.266;QD=16.33;ReadPosRankSum=0.286;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM40;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264728 GT:AD:DP:GQ:PL 0/1:9,11:20:99:357,0,286
3 12828828 rs9822382 T G 71.91 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=47.12;MQ0=0;QD=17.98;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=KRT18P17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000396959 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:104,9,0
3 12829036 rs9881832 C T 346.41 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.2;MQ0=0;QD=26.65;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=KRT18P17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000396959 GT:AD:DP:GQ:PL 1/1:0,13:13:30.07:379,30,0
3 12829095 rs6799179 A C 255.66 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.24;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=KRT18P17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000396959 GT:AD:DP:GQ:PL 1/1:0,11:11:21.07:289,21,0
3 12829156 rs1969154 A G 353.64 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.15;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=KRT18P17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000396959 GT:AD:DP:GQ:PL 1/1:0,11:11:30.10:387,30,0
3 12838293 rs12631514 G C 210.45 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.31;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAND2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295989 GT:AD:DP:GQ:PL 1/1:0,8:8:18.06:243,18,0
3 12845158 rs9835677 G A 633.90 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.5784;MQ=58.84;MQ0=0;QD=31.7;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAND2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295989 GT:AD:DP:GQ:PL 1/1:0,20:20:51.16:667,51,0
3 12848822 rs11718898 T C 1735.42 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.05;MQ0=0;QD=36.15;SNPEFF_AMINO_ACID_CHANGE=V77A;SNPEFF_CODON_CHANGE=gTc/gCc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_12848805_12848959;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAND2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000456430 GT:AD:DP:GQ:PL 1/1:0,48:48:99:1768,135,0
3 12849011 rs34529773 TA T 202.90 PASS AC=2;AF=1.00;AN=2;DB;DP=13;FS=0.0;HRun=7;HaplotypeScore=85.6412;IndelType=D;MQ=46.55;MQ0=0;QD=15.61;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAND2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295989 GT:AD:DP:GQ:PL 1/1:5,8:13:24.04:245,24,0
3 12849031 rs66701632 C CA 161.61 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=0.747;DB;DP=10;FS=0.0;HRun=10;HaplotypeScore=77.377;IndelType=I;MQ=41.67;MQ0=0;MQRankSum=-0.747;QD=16.16;ReadPosRankSum=0.747;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAND2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295989 GT:AD:DP:GQ:PL 0/1:2,8:10:0.54:199,0,1
3 12851841 rs138042042 G A 38.11 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=12.7;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAND2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466558 GT:AD:DP:GQ:PL 0/1:1,2:3:21.56:68,0,22
3 12856856 rs2305398 A G 1167.27 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.05;MQ0=0;QD=32.42;SNPEFF_AMINO_ACID_CHANGE=Q315R;SNPEFF_CODON_CHANGE=cAg/cGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_12856640_12856932;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAND2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000295989 GT:AD:DP:GQ:PL 1/1:0,36:36:93.28:1200,93,0
3 12857493 rs2305397 C T 880.03 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.2;MQ0=0;QD=33.85;SNPEFF_AMINO_ACID_CHANGE=P383L;SNPEFF_CODON_CHANGE=cCt/cTt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_12857366_12857507;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAND2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000295989 GT:AD:DP:GQ:PL 1/1:0,26:26:72.22:913,72,0
3 12857823 rs731646 C T 659.12 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.62;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAND2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000446928 GT:AD:DP:GQ:PL 1/1:0,18:18:51.17:692,51,0
3 12858028 rs3732675 T C 1078.40 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.7;SNPEFF_AMINO_ACID_CHANGE=S440P;SNPEFF_CODON_CHANGE=Tct/Cct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_12857873_12859375;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAND2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000295989 GT:AD:DP:GQ:PL 1/1:0,32:32:84.26:1111,84,0
3 12859004 rs3732678 A C 648.23 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.95;MQ0=0;QD=29.47;SNPEFF_AMINO_ACID_CHANGE=H765P;SNPEFF_CODON_CHANGE=cAc/cCc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_12857873_12859375;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAND2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000295989 GT:AD:DP:GQ:PL 1/1:0,22:22:54.14:681,54,0
3 12875443 rs12629133 G A 2298.41 PASS AC=2;AF=1.00;AN=2;DB;DP=75;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.65;SNPEFF_AMINO_ACID_CHANGE=A1108T;SNPEFF_CODON_CHANGE=Gct/Act;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_12875254_12876301;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CAND2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000295989 GT:AD:DP:GQ:PL 1/1:0,74:75:99:2331,178,0
3 12942850 rs67067889 GC G 230.79 PASS AC=2;AF=1.00;AN=2;DB;DP=7;FS=0.0;HRun=2;HaplotypeScore=17.6957;IndelType=D;MQ=60.0;MQ0=0;QD=32.97;SNPEFF_EFFECT=FRAME_SHIFT;SNPEFF_EXON_ID=exon_3_12942348_12943022;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IQSEC1;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000429247 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:273,21,0
3 12954868 rs2600322 A G 57.25 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=14.31;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IQSEC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273221 GT:AD:DP:GQ:PL 1/1:0,4:4:9:89,9,0
3 12956531 rs2255964 G A 257.05 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IQSEC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273221 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:290,21,0
3 12962074 rs35319679 G A 1004.90 PASS AB=0.418;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.118;DB;DP=55;Dels=0.0;FS=3.511;HRun=0;HaplotypeScore=0.9665;MQ=59.16;MQ0=0;MQRankSum=0.401;QD=18.27;ReadPosRankSum=0.213;SNPEFF_AMINO_ACID_CHANGE=P626S;SNPEFF_CODON_CHANGE=Cct/Tct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_12961930_12962096;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IQSEC1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000429247 GT:AD:DP:GQ:PL 0/1:23,32:55:99:1035,0,744
3 12963445 rs2252275 T A 223.89 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.99;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IQSEC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273221 GT:AD:DP:GQ:PL 1/1:0,8:8:21.05:257,21,0
3 12976863 rs2600206 T C 119.65 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.72;QD=19.94;ReadPosRankSum=0.72;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IQSEC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473088 GT:AD:DP:GQ:PL 0/1:2,4:6:61.90:150,0,62
3 12983423 rs72624443 C T 106.76 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9998;MQ=60.0;MQ0=0;MQRankSum=-0.72;QD=17.79;ReadPosRankSum=-0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IQSEC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273221 GT:AD:DP:GQ:PL 0/1:2,4:6:55.05:137,0,55
3 13114246 rs462825 C G 42.43 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.21;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IQSEC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000429247 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:74,6,0
3 13114408 rs463268 A C 122.93 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=0.956;DB;DP=9;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=57.39;MQ0=0;MQRankSum=0.322;QD=13.66;ReadPosRankSum=-1.517;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IQSEC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000429247 GT:AD:DP:GQ:PL 0/1:3,5:9:93.80:153,0,94
3 13361238 rs2276748 C T 103.02 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.741;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.43;MQ0=0;MQRankSum=0.633;QD=8.59;ReadPosRankSum=-1.133;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NUP210;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000254508 GT:AD:DP:GQ:PL 0/1:7,4:11:99:133,0,221
3 13361287 rs354478 C T 184.96 PASS AB=0.652;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.904;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.7568;MQ=57.12;MQ0=0;MQRankSum=-0.807;QD=8.04;ReadPosRankSum=0.549;SNPEFF_AMINO_ACID_CHANGE=V1787M;SNPEFF_CODON_CHANGE=Gtg/Atg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_13361263_13361479;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NUP210;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000254508 GT:AD:DP:GQ:PL 0/1:15,8:23:99:215,0,483
3 13361391 rs354479 A G 39.86 QDFilter2 AB=0.773;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.887;DB;DP=22;Dels=0.0;FS=6.99;HRun=0;HaplotypeScore=0.0;MQ=58.95;MQ0=0;MQRankSum=0.962;QD=1.81;ReadPosRankSum=-0.057;SNPEFF_AMINO_ACID_CHANGE=L1752S;SNPEFF_CODON_CHANGE=tTg/tCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_13361263_13361479;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NUP210;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000254508 GT:AD:DP:GQ:PL 0/1:17,5:22:69.85:70,0,442
3 13364876 rs514084 G T 955.90 PASS AB=0.493;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.927;DB;DP=69;Dels=0.0;FS=1.008;HRun=1;HaplotypeScore=1.8646;MQ=59.67;MQ0=0;MQRankSum=-2.052;QD=13.85;ReadPosRankSum=-0.044;SNPEFF_AMINO_ACID_CHANGE=T1567;SNPEFF_CODON_CHANGE=acC/acA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_13364809_13364932;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NUP210;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000254508 GT:AD:DP:GQ:PL 0/1:34,35:69:99:986,0,866
3 13367406 rs665064 C T 867.45 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=4.267;DB;DP=71;Dels=0.0;FS=2.127;HRun=0;HaplotypeScore=0.9999;MQ=59.68;MQ0=0;MQRankSum=-0.648;QD=12.22;ReadPosRankSum=-0.303;SNPEFF_AMINO_ACID_CHANGE=S1511;SNPEFF_CODON_CHANGE=tcG/tcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_13367295_13367431;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NUP210;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000254508 GT:AD:DP:GQ:PL 0/1:40,31:71:99:897,0,1086
3 13368892 rs2271509 G A 52.06 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.109;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.43;MQ0=0;MQRankSum=0.0;QD=4.34;ReadPosRankSum=0.185;SNPEFF_AMINO_ACID_CHANGE=C1444;SNPEFF_CODON_CHANGE=tgC/tgT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_13368717_13368937;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NUP210;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000254508 GT:AD:DP:GQ:PL 0/1:9,3:12:82.06:82,0,262
3 13376795 rs13098069 G A 56.64 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=2.192;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.344;QD=4.05;ReadPosRankSum=-0.636;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NUP210;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485755 GT:AD:DP:GQ:PL 0/1:10,4:14:86.64:87,0,315
3 13379400 rs3773302 C T 208.61 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=0.824;DB;DP=23;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.97;MQ0=0;MQRankSum=-0.099;QD=9.07;ReadPosRankSum=-0.89;SNPEFF_AMINO_ACID_CHANGE=E1163;SNPEFF_CODON_CHANGE=gaG/gaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_13379337_13379417;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NUP210;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000254508 GT:AD:DP:GQ:PL 0/1:12,10:23:99:239,0,315
3 13383100 rs75100230 G A 105.94 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=1.652;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.729;QD=11.77;ReadPosRankSum=-0.729;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NUP210;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000254508 GT:AD:DP:GQ:PL 0/1:5,4:9:99:136,0,158
3 13383540 rs2271504 A G 588.69 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=2.141;DB;DP=48;Dels=0.0;FS=4.309;HRun=0;HaplotypeScore=0.9998;MQ=60.0;MQ0=0;MQRankSum=-0.592;QD=12.26;ReadPosRankSum=-1.409;SNPEFF_AMINO_ACID_CHANGE=F1016;SNPEFF_CODON_CHANGE=ttT/ttC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_13383496_13383623;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NUP210;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000254508 GT:AD:DP:GQ:PL 0/1:20,28:48:99:619,0,693
3 13395579 rs2280084 C A 68.91 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.406;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=11.48;ReadPosRankSum=-0.988;SNPEFF_AMINO_ACID_CHANGE=R786L;SNPEFF_CODON_CHANGE=cGg/cTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_13395415_13395607;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NUP210;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000254508 GT:AD:DP:GQ:PL 0/1:3,3:6:90.93:99,0,91
3 13399786 rs6795271 G A 681.68 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.897;DB;DP=40;Dels=0.0;FS=2.784;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.207;QD=17.04;ReadPosRankSum=0.649;SNPEFF_AMINO_ACID_CHANGE=A755V;SNPEFF_CODON_CHANGE=gCg/gTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_13399722_13399895;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NUP210;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000254508 GT:AD:DP:GQ:PL 0/1:16,24:40:99:712,0,409
3 13399948 rs6807718 T C 32.50 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=0.55;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.55;QD=4.64;ReadPosRankSum=-1.754;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NUP210;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000254508 GT:AD:DP:GQ:PL 0/1:4,3:7:62.49:62,0,137
3 13407556 rs3732671 T C 168.89 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.058;DB;DP=15;Dels=0.0;FS=2.158;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.868;QD=11.26;ReadPosRankSum=0.637;SNPEFF_AMINO_ACID_CHANGE=I608V;SNPEFF_CODON_CHANGE=Atc/Gtc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_13407446_13407591;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NUP210;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000254508 GT:AD:DP:GQ:PL 0/1:8,7:15:99:199,0,246
3 13415146 rs6810356 G T 52.39 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=0.322;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.05;MQ0=0;MQRankSum=0.322;QD=6.55;ReadPosRankSum=-1.92;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NUP210;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000254508 GT:AD:DP:GQ:PL 0/1:5,3:8:82.39:82,0,172
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3 13420624 rs6442378 G A 36.84 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.358;QD=7.37;ReadPosRankSum=0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NUP210;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000254508 GT:AD:DP:GQ:PL 0/1:3,2:5:66.83:67,0,101
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3 13427998 rs6442380 G T 319.68 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.231;DB;DP=22;Dels=0.0;FS=5.076;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.692;QD=14.53;ReadPosRankSum=0.56;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NUP210;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000254508 GT:AD:DP:GQ:PL 0/1:10,12:22:99:350,0,280
3 13438830 rs13066607 A G 279.99 PASS AB=0.524;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.514;DB;DP=21;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9832;MQ=58.89;MQ0=0;MQRankSum=0.246;QD=13.33;ReadPosRankSum=-1.091;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NUP210;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000254508 GT:AD:DP:GQ:PL 0/1:11,10:21:99:310,0,373
3 13522973 rs2675232 C T 248.43 PASS AB=0.56;AC=1;AF=0.50;AN=2;BaseQRankSum=2.929;DB;DP=25;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.027;QD=9.94;ReadPosRankSum=-0.739;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HDAC11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295757 GT:AD:DP:GQ:PL 0/1:14,11:25:99:278,0,445
3 13523010 rs2655218 T C 464.55 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.03;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HDAC11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295757 GT:AD:DP:GQ:PL 1/1:0,16:16:42.11:498,42,0
3 13524741 rs2630455 T C 47.20 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=15.73;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HDAC11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295757 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:78,6,0
3 13538012 rs2290193 A C 37.93 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=9.48;ReadPosRankSum=1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HDAC11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295757 GT:AD:DP:GQ:PL 0/1:2,2:4:66.59:68,0,67
3 13544310 rs2290197 G A 1156.07 PASS AB=0.535;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.283;DB;DP=86;Dels=0.0;FS=2.736;HRun=0;HaplotypeScore=0.5784;MQ=59.24;MQ0=0;MQRankSum=1.937;QD=13.44;ReadPosRankSum=0.269;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HDAC11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000458642 GT:AD:DP:GQ:PL 0/1:46,40:86:99:1186,0,1373
3 13612936 rs3732666 A G 494.87 PASS AB=0.414;AC=1;AF=0.50;AN=2;BaseQRankSum=0.908;DB;DP=29;Dels=0.0;FS=6.615;HRun=1;HaplotypeScore=0.9997;MQ=59.36;MQ0=0;MQRankSum=-0.509;QD=17.06;ReadPosRankSum=-0.642;SNPEFF_AMINO_ACID_CHANGE=S361G;SNPEFF_CODON_CHANGE=Agc/Ggc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_13611815_13613161;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FBLN2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000295760 GT:AD:DP:GQ:PL 0/1:12,17:29:99:525,0,351
3 13649762 rs2276747 G A 44.97 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=14.99;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FBLN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295760 GT:AD:DP:GQ:PL 0/1:1,2:3:33.62:75,0,34
3 13659897 rs4596126 A C 111.08 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.92;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.85;MQ0=0;MQRankSum=0.684;QD=12.34;ReadPosRankSum=0.322;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FBLN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295760 GT:AD:DP:GQ:PL 0/1:4,5:9:99:141,0,102
3 13663559 rs3773263 C T 144.19 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=1.422;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.39;MQ0=0;MQRankSum=-1.001;QD=16.02;ReadPosRankSum=-0.573;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FBLN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477845 GT:AD:DP:GQ:PL 0/1:3,6:9:69.31:174,0,69
3 13669537 rs1966825 T G 350.32 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=2.276;DB;DP=21;Dels=0.0;FS=2.702;HRun=0;HaplotypeScore=0.0;MQ=58.89;MQ0=0;MQRankSum=1.427;QD=16.68;ReadPosRankSum=-0.039;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FBLN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295760 GT:AD:DP:GQ:PL 0/1:9,12:21:99:380,0,234
3 13669664 rs2167197 G C 36.03 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=7.21;ReadPosRankSum=1.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FBLN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295760 GT:AD:DP:GQ:PL 0/1:3,2:5:66.03:66,0,103
3 13670481 rs2242023 A G 146.79 PASS AB=0.78;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.421;DB;DP=41;Dels=0.0;FS=1.481;HRun=0;HaplotypeScore=0.0;MQ=59.44;MQ0=0;MQRankSum=0.389;QD=3.58;ReadPosRankSum=-0.421;SNPEFF_AMINO_ACID_CHANGE=T835;SNPEFF_CODON_CHANGE=acA/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_13670405_13670548;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FBLN2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000295760 GT:AD:DP:GQ:PL 0/1:32,9:41:99:177,0,972
3 13670536 rs9843344 A G 55.79 QDFilter2 AB=0.839;AC=1;AF=0.50;AN=2;BaseQRankSum=1.703;DB;DP=31;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=1.8662;MQ=59.25;MQ0=0;MQRankSum=-0.318;QD=1.8;ReadPosRankSum=0.144;SNPEFF_AMINO_ACID_CHANGE=T854A;SNPEFF_CODON_CHANGE=Acc/Gcc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_13670405_13670548;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FBLN2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000295760 GT:AD:DP:GQ:PL 0/1:26,5:31:85.78:86,0,760
3 13678173 rs2290188 G T 125.51 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=0.817;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.2;MQ0=0;MQRankSum=0.0;QD=9.65;ReadPosRankSum=-0.212;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FBLN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295760 GT:AD:DP:GQ:PL 0/1:8,5:13:99:156,0,247
3 13860957 rs79020924 A G 174.94 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=0.157;DB;DP=26;Dels=0.0;FS=2.006;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.22;QD=6.73;ReadPosRankSum=0.094;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WNT7A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000285018 GT:AD:DP:GQ:PL 0/1:14,12:26:99:205,0,411
3 13895817 rs3762720 C G 207.75 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=53.73;MQ0=0;QD=29.68;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WNT7A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000285018 GT:AD:DP:GQ:PL 1/1:0,7:7:18.06:241,18,0
3 13896140 rs3762719 A G 3457.27 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.078;DB;DP=110;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.58;MQ0=0;MQRankSum=-0.098;QD=31.43;ReadPosRankSum=0.425;SNPEFF_AMINO_ACID_CHANGE=S153;SNPEFF_CODON_CHANGE=tcT/tcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_13896029_13896300;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WNT7A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000285018 GT:AD:DP:GQ:PL 1/1:1,109:110:99:3457,232,0
3 13896284 rs12639607 C T 916.94 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.21;SNPEFF_AMINO_ACID_CHANGE=A105;SNPEFF_CODON_CHANGE=gcG/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_13896029_13896300;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WNT7A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000285018 GT:AD:DP:GQ:PL 1/1:0,24:24:72.22:950,72,0
3 13916794 rs41284007 G T 31.26 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=6;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.231;QD=6.25;ReadPosRankSum=1.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WNT7A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000285018 GT:AD:DP:GQ:PL 0/1:3,2:5:61.25:61,0,101
3 14180552 rs2607767 A G 123.91 PASS AB=0.529;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.07;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.847;QD=7.29;ReadPosRankSum=0.847;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM43;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000306077 GT:AD:DP:GQ:PL 0/1:9,8:17:99:154,0,310
3 14197987 rs2958057 A T 4072.45 PASS AC=2;AF=1.00;AN=2;DB;DP=123;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=1.81;MQ=59.66;MQ0=0;QD=33.11;SNPEFF_AMINO_ACID_CHANGE=A590;SNPEFF_CODON_CHANGE=gcT/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_14197835_14197995;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XPC;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000449060 GT:AD:DP:GQ:PL 1/1:0,123:123:99:4072,307,0
3 14239517 rs3214856 GT G 182.32 PASS AB=0.74;AC=1;AF=0.50;AN=2;BaseQRankSum=4.01;DB;DP=37;FS=5.717;HRun=9;HaplotypeScore=87.5254;IndelType=D;MQ=60.58;MQ0=0;MQRankSum=0.52;QD=4.93;ReadPosRankSum=-1.057;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LSM3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000306024 GT:AD:DP:GQ:PL 0/1:24,13:37:99:221,0,718
3 14485484 rs36107877 C A 63.92 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.729;DB;DP=10;Dels=0.0;FS=6.854;HRun=0;HaplotypeScore=0.0;MQ=57.66;MQ0=0;MQRankSum=1.159;QD=6.39;ReadPosRankSum=-0.876;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SLC6A6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360861 GT:AD:DP:GQ:PL 0/1:6,4:10:93.92:94,0,177
3 14488866 rs56833455 A T 365.34 PASS AB=0.313;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=1.02;QD=22.83;ReadPosRankSum=1.02;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SLC6A6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000428884 GT:AD:DP:GQ:PL 0/1:5,11:16:99:395,0,157
3 14489370 rs2304511 G T 109.88 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.813;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.259;QD=9.16;ReadPosRankSum=-1.073;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SLC6A6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000428884 GT:AD:DP:GQ:PL 0/1:6,6:12:99:140,0,214
3 14526538 rs1062540 G A 70.40 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.406;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=57.05;MQ0=0;MQRankSum=0.988;QD=8.8;ReadPosRankSum=0.406;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SLC6A6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360861 GT:AD:DP:GQ:PL 0/1:4,4:8:98.37:100,0,98
3 14536202 rs4685167 G C 208.24 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.62;MQ0=0;QD=29.75;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=antisense;SNPEFF_GENE_NAME=GRIP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273083 GT:AD:DP:GQ:PL 1/1:0,7:7:18.06:241,18,0
3 14538072 rs74739633 CA C 164.58 PASS AB=0.774;AC=1;AF=0.50;AN=2;BaseQRankSum=3.241;DB;DP=24;FS=0.0;HRun=2;HaplotypeScore=64.5891;IndelType=D;MQ=58.52;MQ0=0;MQRankSum=1.57;QD=6.86;ReadPosRankSum=0.234;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=antisense;SNPEFF_GENE_NAME=GRIP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273083 GT:AD:DP:GQ:PL 0/1:17,7:24:99:204,0,651
3 14548208 rs2276756 G A 48.79 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.39;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=antisense;SNPEFF_GENE_NAME=GRIP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273083 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:80,6,0
3 14548494 rs2276755 A G 124.76 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.95;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=antisense;SNPEFF_GENE_NAME=GRIP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273083 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:157,12,0
3 14551444 rs9845816 A G 49.57 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.78;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=antisense;SNPEFF_GENE_NAME=GRIP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273083 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
3 14552994 rs4685168 A G 396.22 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.48;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=antisense;SNPEFF_GENE_NAME=GRIP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273083 GT:AD:DP:GQ:PL 1/1:0,13:13:36.08:429,36,0
3 14554476 rs4516597 T C 553.65 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.6;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=antisense;SNPEFF_GENE_NAME=GRIP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273083 GT:AD:DP:GQ:PL 1/1:0,16:16:45.14:587,45,0
3 14554608 rs11128703 C T 91.02 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.34;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=antisense;SNPEFF_GENE_NAME=GRIP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273083 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:123,9,0
3 14555009 rs4685170 C T 148.21 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=44.1;MQ0=0;QD=29.64;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=antisense;SNPEFF_GENE_NAME=GRIP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273083 GT:AD:DP:GQ:PL 1/1:0,5:5:15.04:181,15,0
3 14555216 rs4685171 T C 857.23 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=53.12;MQ0=0;QD=21.98;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=antisense;SNPEFF_GENE_NAME=GRIP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273083 GT:AD:DP:GQ:PL 1/1:0,39:39:72.17:890,72,0
3 14555367 rs4685172 T C 410.60 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.33;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=antisense;SNPEFF_GENE_NAME=GRIP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273083 GT:AD:DP:GQ:PL 1/1:0,14:14:33.11:444,33,0
3 14555409 rs28520469 T C 238.14 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.02;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=antisense;SNPEFF_GENE_NAME=GRIP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273083 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:271,21,0
3 14555411 rs28462294 A C 234.15 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.27;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=antisense;SNPEFF_GENE_NAME=GRIP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273083 GT:AD:DP:GQ:PL 1/1:0,8:8:21.07:267,21,0
3 14555811 rs4613440 A G 49.99 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=16.66;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=antisense;SNPEFF_GENE_NAME=GRIP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273083 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:81,6,0
3 14558455 rs150652797 G A 153.03 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=1.92;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.956;QD=19.13;ReadPosRankSum=-0.322;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=antisense;SNPEFF_GENE_NAME=GRIP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000413414 GT:AD:DP:GQ:PL 0/1:3,5:8:83.38:183,0,83
3 14561627 rs5846840 A AG 390.27 PASS AC=2;AF=1.00;AN=2;DB;DP=11;FS=0.0;HRun=2;HaplotypeScore=21.6703;IndelType=I;MQ=60.0;MQ0=0;QD=35.48;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=antisense;SNPEFF_GENE_NAME=GRIP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000413414 GT:AD:DP:GQ:PL 1/1:1,10:11:30.10:432,30,0
3 14563258 rs4234526 A G 345.42 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9894;MQ=57.87;MQ0=0;QD=31.4;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=antisense;SNPEFF_GENE_NAME=GRIP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273083 GT:AD:DP:GQ:PL 1/1:0,11:11:30.09:378,30,0
3 14565017 rs4685173 G A 374.80 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.48;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=antisense;SNPEFF_GENE_NAME=GRIP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273083 GT:AD:DP:GQ:PL 1/1:0,10:10:30.10:408,30,0
3 14565357 rs4685174 G A 48.08 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.04;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=antisense;SNPEFF_GENE_NAME=GRIP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273083 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
3 14581594 rs6442461 A G 52.19 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.537;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=47.12;MQ0=0;MQRankSum=1.537;QD=8.7;ReadPosRankSum=0.406;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=antisense;SNPEFF_GENE_NAME=GRIP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273083 GT:AD:DP:GQ:PL 0/1:3,3:6:82.19:82,0,89
3 14583194 rs13062253 T C 43.76 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.88;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=antisense;SNPEFF_GENE_NAME=GRIP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000507975 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:75,6,0
3 14702982 rs2276754 C A 851.16 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.22;MQ0=0;QD=35.47;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C3orf19;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000285042 GT:AD:DP:GQ:PL 1/1:0,24:24:66.22:884,66,0
3 14703297 rs9840626 C T 387.19 PASS AB=0.686;AC=1;AF=0.50;AN=2;BaseQRankSum=1.799;DB;DP=51;Dels=0.0;FS=2.827;HRun=1;HaplotypeScore=0.0;MQ=56.28;MQ0=0;MQRankSum=1.355;QD=7.59;ReadPosRankSum=0.995;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C3orf19;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000285042 GT:AD:DP:GQ:PL 0/1:35,16:51:99:417,0,973
3 14703401 rs141285975 CATAATTACA C 936.26 PASS AB=0.641;AC=1;AF=0.50;AN=2;BaseQRankSum=3.788;DB;DP=25;FS=0.0;HRun=0;HaplotypeScore=215.3177;IndelType=D;MQ=55.04;MQ0=0;MQRankSum=-0.58;QD=37.45;ReadPosRankSum=0.307;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C3orf19;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463438 GT:AD:DP:GQ:PL 0/1:11,14:25:99:975,0,927
3 14706770 rs73022117 A G 145.47 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=1.408;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.71;MQ0=0;MQRankSum=-0.143;QD=13.22;ReadPosRankSum=0.466;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C3orf19;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463438 GT:AD:DP:GQ:PL 0/1:5,6:11:45.80:175,0,46
3 14707993 rs2033446 G C 50.63 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.32;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C3orf19;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463438 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
3 14708918 rs2280383 A G 1373.23 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.85;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C3orf19;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465759 GT:AD:DP:GQ:PL 1/1:0,46:46:99:1406,117,0
3 14712473 rs1901 G A 558.61 PASS AB=0.513;AC=1;AF=0.50;AN=2;BaseQRankSum=1.559;DB;DP=39;Dels=0.0;FS=4.887;HRun=0;HaplotypeScore=0.5784;MQ=59.41;MQ0=0;MQRankSum=0.07;QD=14.32;ReadPosRankSum=-0.126;SNPEFF_AMINO_ACID_CHANGE=P219;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_14712403_14713051;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C3orf19;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000285042 GT:AD:DP:GQ:PL 0/1:20,19:39:99:589,0,552
3 14724413 rs9821143 G A 497.73 PASS AB=0.512;AC=1;AF=0.50;AN=2;BaseQRankSum=0.433;DB;DP=41;Dels=0.0;FS=1.321;HRun=1;HaplotypeScore=0.0;MQ=59.44;MQ0=0;MQRankSum=-0.108;QD=12.14;ReadPosRankSum=-0.569;SNPEFF_AMINO_ACID_CHANGE=D65N;SNPEFF_CODON_CHANGE=Gac/Aac;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_14724085_14724704;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf20;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000253697 GT:AD:DP:GQ:PL 0/1:21,20:41:99:528,0,689
3 14725668 rs12488352 G A 1472.97 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.48;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf20;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000253697 GT:AD:DP:GQ:PL 1/1:0,44:44:99:1506,111,0
3 14745857 rs17040196 G A 1600.10 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.56;SNPEFF_AMINO_ACID_CHANGE=A176T;SNPEFF_CODON_CHANGE=Gcc/Acc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_14745844_14746125;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf20;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000412910 GT:AD:DP:GQ:PL 1/1:0,45:45:99:1633,120,0
3 14755572 rs6765537 A G 1102.97 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9867;MQ=59.41;MQ0=0;QD=28.28;SNPEFF_AMINO_ACID_CHANGE=I285V;SNPEFF_CODON_CHANGE=Atc/Gtc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_14755514_14755666;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf20;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000412910 GT:AD:DP:GQ:PL 1/1:0,38:39:93.28:1136,93,0
3 14755617 rs6790129 C G 1024.32 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.25;MQ0=0;QD=33.04;SNPEFF_AMINO_ACID_CHANGE=L300V;SNPEFF_CODON_CHANGE=Cta/Gta;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_14755514_14755666;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf20;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000412910 GT:AD:DP:GQ:PL 1/1:0,31:31:81.26:1057,81,0
3 14756578 rs12495591 A C 48.31 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.16;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf20;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000253697 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:80,6,0
3 14756730 rs9869372 A G 414.31 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.53;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf20;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000253697 GT:AD:DP:GQ:PL 1/1:0,12:12:33.11:447,33,0
3 14768554 rs17255247 G A 1753.87 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.734;MQ=60.0;MQ0=0;QD=34.39;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf20;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000495387 GT:AD:DP:GQ:PL 1/1:0,51:51:99:1787,132,0
3 14801550 rs2729697 G A 398.14 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.2;MQ0=0;QD=30.63;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf20;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000253697 GT:AD:DP:GQ:PL 1/1:0,13:13:33.11:431,33,0
3 14813825 rs294624 G C 248.77 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.54;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf20;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000253697 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:282,21,0
3 14862121 rs61751584 G A 374.14 PASS AB=0.576;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.548;DB;DP=33;Dels=0.0;FS=3.436;HRun=0;HaplotypeScore=0.9916;MQ=58.59;MQ0=0;MQRankSum=-0.637;QD=11.34;ReadPosRankSum=-0.71;SNPEFF_AMINO_ACID_CHANGE=A274T;SNPEFF_CODON_CHANGE=Gcc/Acc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_14860831_14863103;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FGD5;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000543601 GT:AD:DP:GQ:PL 0/1:19,14:33:99:404,0,627
3 14905513 rs172429 T G 1490.31 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=59.49;MQ0=0;QD=33.12;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FGD5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000285046 GT:AD:DP:GQ:PL 1/1:0,44:45:99:1523,126,0
3 14939198 rs2117775 G A 521.08 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.57;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FGD5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000285046 GT:AD:DP:GQ:PL 1/1:0,16:16:42.14:554,42,0
3 14939364 rs2117774 G A 846.52 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.56;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FGD5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000285046 GT:AD:DP:GQ:PL 1/1:0,26:26:66.20:880,66,0
3 14939479 rs2164356 G T 2984.77 PASS AC=2;AF=1.00;AN=2;DB;DP=87;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.74;MQ0=0;QD=34.31;SNPEFF_AMINO_ACID_CHANGE=L740;SNPEFF_CODON_CHANGE=ctG/ctT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_14939446_14939602;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FGD5;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000543601 GT:AD:DP:GQ:PL 1/1:0,87:87:99:3018,229,0
3 14939679 rs2307090 G A 2275.71 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.57;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FGD5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000285046 GT:AD:DP:GQ:PL 1/1:0,59:59:99:2309,175,0
3 14942024 rs2307088 T C 1085.11 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.36;MQ0=0;QD=30.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FGD5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000285046 GT:AD:DP:GQ:PL 1/1:0,36:36:96.26:1118,96,0
3 14942675 rs293906 G A 529.51 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.82;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FGD5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000285046 GT:AD:DP:GQ:PL 1/1:0,14:14:42.13:563,42,0
3 14949268 rs9818644 C T 640.09 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.01;MQ0=0;QD=33.69;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FGD5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000285046 GT:AD:DP:GQ:PL 1/1:0,19:19:51.13:673,51,0
3 14960043 rs189467090 G A 46.97 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.48;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FGD5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000285046 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:78,6,0
3 14960170 rs293916 T C 417.67 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.81;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FGD5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000285046 GT:AD:DP:GQ:PL 1/1:0,12:12:33.11:451,33,0
3 14960204 rs2117776 G T 148.53 PASS AB=0.588;AC=1;AF=0.50;AN=2;BaseQRankSum=1.573;DB;DP=17;Dels=0.0;FS=3.01;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.464;QD=8.74;ReadPosRankSum=-0.054;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FGD5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000285046 GT:AD:DP:GQ:PL 0/1:10,7:17:99:179,0,318
3 14963337 rs13060887 C T 37.45 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FGD5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000285046 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:69,6,0
3 14964383 rs180972868 C G 98.55 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.368;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.922;QD=12.32;ReadPosRankSum=0.421;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FGD5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000285046 GT:AD:DP:GQ:PL 0/1:4,4:8:99:129,0,140
3 14965507 rs4685235 A G 1511.65 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=3.9574;MQ=58.37;MQ0=0;QD=25.19;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FGD5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000285046 GT:AD:DP:GQ:PL 1/1:0,60:60:99:1545,135,0
3 15126086 rs618141 T C 584.80 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.99;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZFYVE20;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000441057 GT:AD:DP:GQ:PL 1/1:0,15:15:45.15:618,45,0
3 15126102 rs58022057 C G 194.66 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.099;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.289;QD=12.98;ReadPosRankSum=1.215;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZFYVE20;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000441057 GT:AD:DP:GQ:PL 0/1:8,7:15:99:225,0,286
3 15175744 rs34045526 C CGGT 265.07 PASS AB=0.872;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.339;DB;DP=86;FS=0.0;HRun=0;HaplotypeScore=352.5837;IndelType=I;MQ=45.78;MQ0=6;MQRankSum=-2.878;QD=2.79;ReadPosRankSum=-3.25;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AC090954.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408497 GT:AD:DP:GQ:PL 0/1:81,12:86:99:304,0,2001
3 15259865 rs826426 G A 734.39 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.89;MQ0=0;QD=34.97;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CAPN7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418994 GT:AD:DP:GQ:PL 1/1:0,21:21:57.19:767,57,0
3 15282228 rs17480974 T G 466.56 PASS AB=0.541;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.594;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.67;MQ0=0;MQRankSum=-0.899;QD=12.61;ReadPosRankSum=0.046;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CAPN7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000253693 GT:AD:DP:GQ:PL 0/1:20,17:37:99:497,0,614
3 15301363 rs2291853 G A 862.74 PASS AB=0.525;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.207;DB;DP=59;Dels=0.0;FS=3.074;HRun=1;HaplotypeScore=0.0;MQ=59.22;MQ0=0;MQRankSum=-0.25;QD=14.62;ReadPosRankSum=1.693;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SH3BP5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000417936 GT:AD:DP:GQ:PL 0/1:31,28:59:99:893,0,1099
3 15311325 rs1287467 A G 2297.79 PASS AC=2;AF=1.00;AN=2;DB;DP=72;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9993;MQ=59.68;MQ0=0;QD=31.91;SNPEFF_AMINO_ACID_CHANGE=R130;SNPEFF_CODON_CHANGE=cgT/cgC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_15311220_15311384;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SH3BP5;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000383791 GT:AD:DP:GQ:PL 1/1:0,72:72:99:2331,190,0
3 15311464 rs1287468 G T 902.72 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.45;MQ0=0;QD=30.09;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SH3BP5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000253688 GT:AD:DP:GQ:PL 1/1:1,29:30:75.21:936,75,0
3 15372129 rs116839273 A G 45.44 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=15.15;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SH3BP5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000253688 GT:AD:DP:GQ:PL 0/1:1,2:3:33.20:75,0,33
3 15471528 rs112921910 AT A 426 PASS AB=0.631;AC=1;AF=0.50;AN=2;BaseQRankSum=2.735;DB;DP=41;FS=0.0;HRun=11;HaplotypeScore=112.5208;IndelType=D;MQ=59.97;MQ0=0;MQRankSum=-0.185;QD=10.39;ReadPosRankSum=-1.158;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EAF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000396842 GT:AD:DP:GQ:PL 0/1:17,23:41:99:465,0,273
3 15473515 rs2290535 G A 301.16 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.091;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=59.17;MQ0=0;MQRankSum=-1.137;QD=10.76;ReadPosRankSum=-0.766;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EAF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000396842 GT:AD:DP:GQ:PL 0/1:16,12:28:99:331,0,544
3 15473764 rs1563416 G A 749.14 PASS AB=0.574;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.466;DB;DP=61;Dels=0.0;FS=6.297;HRun=0;HaplotypeScore=0.9916;MQ=60.0;MQ0=0;MQRankSum=0.678;QD=12.28;ReadPosRankSum=-1.466;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EAF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000396842 GT:AD:DP:GQ:PL 0/1:35,26:61:99:779,0,1160
3 15476011 rs1563415 C G 1541.99 PASS AB=0.632;AC=1;AF=0.50;AN=2;BaseQRankSum=0.31;DB;DP=174;DS;Dels=0.0;FS=3.194;HRun=0;HaplotypeScore=6.8174;MQ=59.89;MQ0=0;MQRankSum=-0.269;QD=8.86;ReadPosRankSum=0.467;SNPEFF_AMINO_ACID_CHANGE=P164;SNPEFF_CODON_CHANGE=ccC/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_15475855_15476045;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EAF1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000396842 GT:AD:DP:GQ:PL 0/1:110,64:174:99:1572,0,3420
3 15520650 rs17484530 G C 106.97 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.036;DB;DP=10;Dels=0.0;FS=2.43;HRun=1;HaplotypeScore=0.0;MQ=58.11;MQ0=0;MQRankSum=1.568;QD=10.7;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COLQ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000383781 GT:AD:DP:GQ:PL 0/1:6,4:10:99:137,0,179
3 15610070 rs905650 C T 505.87 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.572;DB;DP=42;Dels=0.0;FS=4.781;HRun=0;HaplotypeScore=0.0;MQ=59.45;MQ0=0;MQRankSum=-0.52;QD=12.04;ReadPosRankSum=-0.93;SNPEFF_AMINO_ACID_CHANGE=L132;SNPEFF_CODON_CHANGE=ctG/ctA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_15609939_15610093;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HACL1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000435217 GT:AD:DP:GQ:PL 0/1:24,18:42:99:536,0,729
3 15613279 . T TA 242.62 PASS AB=0.783;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.243;DP=47;FS=0.0;HRun=13;HaplotypeScore=323.7782;IndelType=I;MQ=52.15;MQ0=0;MQRankSum=-0.02;QD=5.16;ReadPosRankSum=0.139;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HACL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000321169 GT:AD:DP:GQ:PL 0/1:33,11:47:99:282,0,241
3 15643043 rs2019160 A G 760.14 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.55;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BTD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000417015 GT:AD:DP:GQ:PL 1/1:0,22:22:60.19:793,60,0
3 15686470 rs140890299 G A 1214.03 PASS AB=0.506;AC=1;AF=0.50;AN=2;BaseQRankSum=5.033;DB;DP=81;Dels=0.0;FS=8.525;HRun=0;HaplotypeScore=0.0;MQ=59.72;MQ0=0;MQRankSum=-0.165;QD=14.99;ReadPosRankSum=0.505;SNPEFF_AMINO_ACID_CHANGE=P349;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_15685823_15687203;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BTD;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000383778 GT:AD:DP:GQ:PL 0/1:41,40:81:99:1244,0,1162
3 15718652 rs2470540 T A 650.43 PASS AB=0.432;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.713;DB;DP=37;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.088;QD=17.58;ReadPosRankSum=-1.027;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD28;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000451422 GT:AD:DP:GQ:PL 0/1:16,21:37:99:680,0,551
3 15736385 rs2455814 A T 1770.32 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.88;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD28;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000383777 GT:AD:DP:GQ:PL 1/1:0,48:48:99:1803,135,0
3 15737610 rs2470547 T C 1151.27 PASS AB=0.475;AC=1;AF=0.50;AN=2;BaseQRankSum=4.427;DB;DP=80;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.71;MQ0=0;MQRankSum=-0.477;QD=14.39;ReadPosRankSum=0.409;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD28;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000383777 GT:AD:DP:GQ:PL 0/1:38,42:80:99:1181,0,1203
3 15737689 rs2470548 G A 1179.87 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.064;DB;DP=90;Dels=0.0;FS=1.741;HRun=0;HaplotypeScore=0.0;MQ=59.28;MQ0=0;MQRankSum=-0.521;QD=13.11;ReadPosRankSum=-0.521;SNPEFF_AMINO_ACID_CHANGE=N507;SNPEFF_CODON_CHANGE=aaC/aaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_15737641_15737752;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD28;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000399451 GT:AD:DP:GQ:PL 0/1:45,45:90:99:1210,0,1380
3 15737698 rs2470549 T C 1138.49 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.295;DB;DP=86;Dels=0.0;FS=0.824;HRun=2;HaplotypeScore=0.0;MQ=59.24;MQ0=0;MQRankSum=0.335;QD=13.24;ReadPosRankSum=-0.559;SNPEFF_AMINO_ACID_CHANGE=Q504;SNPEFF_CODON_CHANGE=caA/caG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_15737641_15737752;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD28;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000399451 GT:AD:DP:GQ:PL 0/1:43,43:86:99:1168,0,1326
3 15749213 rs2455830 C T 72.09 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.231;QD=14.42;ReadPosRankSum=-0.358;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD28;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000492895 GT:AD:DP:GQ:PL 0/1:2,3:5:68.94:102,0,69
3 15752830 rs2455833 T C 982.41 PASS AB=0.485;AC=1;AF=0.50;AN=2;BaseQRankSum=2.884;DB;DP=68;Dels=0.0;FS=3.203;HRun=1;HaplotypeScore=0.9332;MQ=60.0;MQ0=0;MQRankSum=-0.933;QD=14.45;ReadPosRankSum=-1.055;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD28;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000383777 GT:AD:DP:GQ:PL 0/1:33,35:68:99:1012,0,1074
3 15753641 rs2455834 A G 707.55 PASS AB=0.458;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.176;DB;DP=48;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9996;MQ=60.0;MQ0=0;MQRankSum=0.962;QD=14.74;ReadPosRankSum=2.204;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD28;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000383777 GT:AD:DP:GQ:PL 0/1:22,26:48:99:738,0,740
3 15754849 rs2255248 C T 121.60 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.021;DB;DP=15;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.75;MQ0=0;MQRankSum=-1.041;QD=8.11;ReadPosRankSum=0.306;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD28;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000383777 GT:AD:DP:GQ:PL 0/1:10,5:15:99:152,0,360
3 15756215 rs924754 A T 555.92 PASS AB=0.379;AC=1;AF=0.50;AN=2;BaseQRankSum=2.36;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9974;MQ=58.45;MQ0=0;MQRankSum=-0.427;QD=19.17;ReadPosRankSum=0.876;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD28;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000383777 GT:AD:DP:GQ:PL 0/1:11,18:29:99:586,0,337
3 15762847 rs2470519 G A 36.41 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.026;QD=9.1;ReadPosRankSum=-1.026;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD28;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460278 GT:AD:DP:GQ:PL 0/1:2,2:4:66.40:66,0,73
3 15807725 rs6789076 T A 1120.86 PASS AB=0.513;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.664;DB;DP=78;Dels=0.0;FS=3.634;HRun=0;HaplotypeScore=0.0;MQ=59.7;MQ0=0;MQRankSum=1.315;QD=14.37;ReadPosRankSum=1.005;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD28;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000383777 GT:AD:DP:GQ:PL 0/1:40,38:78:99:1151,0,1307
3 15837784 rs1447649 C T 267.06 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.239;DB;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.6671;MQ=57.87;MQ0=0;MQRankSum=0.391;QD=12.14;ReadPosRankSum=0.675;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKRD28;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000383777 GT:AD:DP:GQ:PL 0/1:12,10:22:99:297,0,416
3 15915154 rs10514667 C T 59.65 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=1.202;DB;DP=14;Dels=0.0;FS=5.441;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.354;QD=4.26;ReadPosRankSum=1.061;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=AC090945.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000413639 GT:AD:DP:GQ:PL 0/1:10,4:14:89.64:90,0,363
3 16242101 rs3796301 C T 359.31 PASS AB=0.35;AC=1;AF=0.50;AN=2;BaseQRankSum=0.833;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.658;QD=17.97;ReadPosRankSum=0.482;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GALNTL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000339732 GT:AD:DP:GQ:PL 0/1:7,13:20:99:389,0,188
3 16249761 rs12486293 T C 40.62 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.95;MQ0=0;MQRankSum=0.0;QD=10.16;ReadPosRankSum=1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GALNTL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000339732 GT:AD:DP:GQ:PL 0/1:2,2:4:63.63:71,0,64
3 16249998 rs1505609 A T 2145.69 PASS AB=0.464;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.234;DB;DP=140;Dels=0.0;FS=3.004;HRun=0;HaplotypeScore=6.2722;MQ=59.84;MQ0=0;MQRankSum=0.213;QD=15.33;ReadPosRankSum=1.863;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GALNTL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000339732 GT:AD:DP:GQ:PL 0/1:65,75:140:99:2176,0,1893
3 16263872 rs2292167 C A 247.40 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.34;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GALNTL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000489467 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:280,21,0
3 16263920 rs2292168 G C 496.45 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.1;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GALNTL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000489467 GT:AD:DP:GQ:PL 1/1:0,15:15:39.13:529,39,0
3 16305674 rs14080 C G 329.79 PASS AB=0.316;AC=1;AF=0.50;AN=2;BaseQRankSum=1.658;DB;DP=19;Dels=0.0;FS=7.911;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=2.161;QD=17.36;ReadPosRankSum=2.06;SNPEFF_AMINO_ACID_CHANGE=V57;SNPEFF_CODON_CHANGE=gtG/gtC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_16305662_16305736;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DPH3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000488423 GT:AD:DP:GQ:PL 0/1:6,13:19:99:360,0,153
3 16312564 rs842259 C T 801.45 PASS AB=0.614;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.608;DB;DP=83;Dels=0.0;FS=0.889;HRun=0;HaplotypeScore=0.8667;MQ=58.94;MQ0=0;MQRankSum=-1.122;QD=9.66;ReadPosRankSum=-0.277;SNPEFF_AMINO_ACID_CHANGE=H35;SNPEFF_CODON_CHANGE=caC/caT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_16312452_16312578;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OXNAD1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000285083 GT:AD:DP:GQ:PL 0/1:51,32:83:99:831,0,1587
3 16327855 rs842274 T G 726.25 PASS AB=0.518;AC=1;AF=0.50;AN=2;BaseQRankSum=0.943;DB;DP=56;Dels=0.0;FS=2.322;HRun=1;HaplotypeScore=0.0;MQ=59.67;MQ0=0;MQRankSum=0.39;QD=12.97;ReadPosRankSum=-1.463;SNPEFF_AMINO_ACID_CHANGE=S64A;SNPEFF_CODON_CHANGE=Tca/Gca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_16327849_16327955;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OXNAD1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000285083 GT:AD:DP:GQ:PL 0/1:29,27:56:99:756,0,904
3 16343092 rs842283 T G 302.94 PASS AB=0.478;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.576;DB;DP=23;Dels=0.0;FS=10.942;HRun=0;HaplotypeScore=0.9665;MQ=60.0;MQ0=0;MQRankSum=-1.116;QD=13.17;ReadPosRankSum=-1.182;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OXNAD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000285083 GT:AD:DP:GQ:PL 0/1:11,12:23:99:333,0,323
3 16343505 rs842282 T C 116.70 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.72;QD=19.45;ReadPosRankSum=1.38;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OXNAD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000435829 GT:AD:DP:GQ:PL 0/1:2,4:6:63.18:147,0,63
3 16358584 rs690241 T C 579.75 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.463;DB;DP=46;Dels=0.0;FS=2.614;HRun=2;HaplotypeScore=0.0;MQ=58.48;MQ0=0;MQRankSum=-0.057;QD=12.6;ReadPosRankSum=0.556;SNPEFF_AMINO_ACID_CHANGE=S460;SNPEFF_CODON_CHANGE=tcA/tcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_16357352_16358739;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RFTN1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000432519 GT:AD:DP:GQ:PL 0/1:23,23:46:99:610,0,737
3 16364919 rs690216 A C 208.67 PASS AB=0.757;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.602;DB;DP=37;Dels=0.0;FS=3.626;HRun=0;HaplotypeScore=3.9981;MQ=58.79;MQ0=0;MQRankSum=0.903;QD=5.64;ReadPosRankSum=1.15;SNPEFF_AMINO_ACID_CHANGE=P396;SNPEFF_CODON_CHANGE=ccT/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_16364883_16364964;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RFTN1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000432519 GT:AD:DP:GQ:PL 0/1:28,9:37:99:239,0,885
3 16399177 rs560032 G A 40.30 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9997;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=13.43;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RFTN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334133 GT:AD:DP:GQ:PL 0/1:1,2:3:30.98:70,0,31
3 16419708 rs690317 G A 151.18 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.572;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=18.9;ReadPosRankSum=-0.572;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RFTN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334133 GT:AD:DP:GQ:PL 0/1:2,6:8:55.93:181,0,56
3 16450872 rs1546650 T C 254.52 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=2.263;DB;DP=30;Dels=0.0;FS=2.493;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.543;QD=8.48;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RFTN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000431547 GT:AD:DP:GQ:PL 0/1:21,9:30:99:285,0,660
3 16535097 rs10454232 C T 198.64 PASS AB=0.63;AC=1;AF=0.50;AN=2;BaseQRankSum=0.577;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.14;MQ0=0;MQRankSum=0.427;QD=7.36;ReadPosRankSum=-1.28;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RFTN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334133 GT:AD:DP:GQ:PL 0/1:17,10:27:99:229,0,615
3 16535229 rs3815962 C T 2210.34 PASS AB=0.598;AC=1;AF=0.50;AN=2;BaseQRankSum=1.406;DB;DP=204;Dels=0.0;FS=9.152;HRun=1;HaplotypeScore=0.7887;MQ=59.77;MQ0=0;MQRankSum=1.358;QD=10.83;ReadPosRankSum=1.141;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RFTN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334133 GT:AD:DP:GQ:PL 0/1:122,82:204:99:2240,0,3337
3 16635866 rs13067997 C G 105.46 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.36;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DAZL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000454457 GT:AD:DP:GQ:PL 1/1:0,4:4:12.03:138,12,0
3 16638775 rs2217204 T C 224.70 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DAZL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000250863 GT:AD:DP:GQ:PL 1/1:0,7:7:21.06:258,21,0
3 16638810 rs2195155 T C 291.50 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.44;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DAZL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000250863 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:324,24,0
3 16639754 rs3773827 G T 2055.98 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=59.57;MQ0=0;QD=38.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DAZL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000250863 GT:AD:DP:GQ:PL 1/1:0,54:54:99:2089,157,0
3 16646745 rs9847342 C G 1714.04 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=59.85;MQ0=0;QD=27.21;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_3_16646710_16647006;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DAZL;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000399444 GT:AD:DP:GQ:PL 1/1:3,60:63:99:1747,132,0
3 16679606 rs1025254 T C 341.51 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.15;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DAZL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000454457 GT:AD:DP:GQ:PL 1/1:0,10:10:30.08:375,30,0
3 17056271 rs61755446 G A 2476.45 PASS AB=0.464;AC=1;AF=0.50;AN=2;BaseQRankSum=5.769;DB;DP=151;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.4011;MQ=60.0;MQ0=0;MQRankSum=-1.433;QD=16.4;ReadPosRankSum=0.864;SNPEFF_AMINO_ACID_CHANGE=A836;SNPEFF_CODON_CHANGE=gcG/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_17056200_17056403;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PLCL2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000396755 GT:AD:DP:GQ:PL 0/1:70,81:151:99:2506,0,2000
3 17208267 rs1138454 T C 609.14 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=0.271;DB;DP=36;Dels=0.0;FS=1.341;HRun=0;HaplotypeScore=0.0;MQ=59.36;MQ0=0;MQRankSum=2.372;QD=16.92;ReadPosRankSum=0.43;SNPEFF_AMINO_ACID_CHANGE=I696V;SNPEFF_CODON_CHANGE=Att/Gtt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_17208259_17208420;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TBC1D5;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000253692 GT:AD:DP:GQ:PL 0/1:16,20:36:99:639,0,436
3 17447837 . T TA 949.96 PASS AB=0.709;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.4;DP=61;FS=7.733;HRun=2;HaplotypeScore=155.8376;IndelType=I;MQ=59.62;MQ0=0;MQRankSum=0.905;QD=15.57;ReadPosRankSum=0.281;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TBC1D5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000434420 GT:AD:DP:GQ:PL 0/1:36,25:61:99:989,0,1013
3 17469903 . G GTA 246.97 PASS AB=0.652;AC=1;AF=0.50;AN=2;BaseQRankSum=1.096;DP=15;FS=6.99;HRun=0;HaplotypeScore=100.3104;IndelType=I;MQ=62.74;MQ0=0;MQRankSum=1.791;QD=16.46;ReadPosRankSum=0.15;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TBC1D5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000253692 GT:AD:DP:GQ:PL 0/1:6,8:15:99:286,0,125
3 18392692 rs7627392 A C 54.17 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.06;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SATB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467628 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:85,6,0
3 18457304 rs9310566 G T 105.58 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.6;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SATB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000414509 GT:AD:DP:GQ:PL 1/1:0,6:6:12.02:138,12,0
3 19389074 rs6551230 G A 228.47 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.56;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNH8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328405 GT:AD:DP:GQ:PL 1/1:0,8:8:21.05:261,21,0
3 19432343 rs188775774 A G 33.81 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=11.27;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNH8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328405 GT:AD:DP:GQ:PL 0/1:1,2:3:28.77:64,0,29
3 19436587 rs10470642 T C 3187.55 PASS AC=2;AF=1.00;AN=2;DB;DP=100;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=3.6956;MQ=59.54;MQ0=0;QD=31.88;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNH8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328405 GT:AD:DP:GQ:PL 1/1:0,100:100:99:3221,250,0
3 19479546 rs183646249 C T 615.96 PASS AB=0.531;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.015;DB;DP=49;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.619;QD=12.57;ReadPosRankSum=-0.475;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNH8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328405 GT:AD:DP:GQ:PL 0/1:26,23:49:99:646,0,925
3 19498220 . G GT 365.02 PASS AB=0.653;AC=1;AF=0.50;AN=2;BaseQRankSum=4.425;DP=32;FS=2.537;HRun=2;HaplotypeScore=163.0948;IndelType=I;MQ=60.63;MQ0=0;MQRankSum=0.285;QD=11.41;ReadPosRankSum=-0.095;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNH8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328405 GT:AD:DP:GQ:PL 0/1:15,17:32:99:404,0,449
3 19498482 rs17005985 C T 105.93 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.532;DB;DP=11;Dels=0.0;FS=6.99;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.825;QD=9.63;ReadPosRankSum=0.825;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNH8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328405 GT:AD:DP:GQ:PL 0/1:6,5:11:99:136,0,180
3 19551752 rs75412914 A G 115.52 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.637;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.387;QD=10.5;ReadPosRankSum=0.717;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNH8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328405 GT:AD:DP:GQ:PL 0/1:6,5:11:99:146,0,209
3 19559510 rs148330866 G C 683.72 PASS AB=0.566;AC=1;AF=0.50;AN=2;BaseQRankSum=1.768;DB;DP=53;Dels=0.0;FS=10.098;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.839;QD=12.9;ReadPosRankSum=-0.852;SNPEFF_AMINO_ACID_CHANGE=V855L;SNPEFF_CODON_CHANGE=Gtt/Ctt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_19559490_19559566;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNH8;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000328405 GT:AD:DP:GQ:PL 0/1:30,23:53:99:714,0,924
3 19559653 rs141450557 T C 68.43 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.182;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.546;QD=4.28;ReadPosRankSum=-0.546;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNH8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328405 GT:AD:DP:GQ:PL 0/1:12,4:16:98.42:98,0,439
3 19924058 rs76398910 G A 893.75 PASS AB=0.61;AC=1;AF=0.50;AN=2;BaseQRankSum=0.518;DB;DP=82;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9999;MQ=60.0;MQ0=0;MQRankSum=0.385;QD=10.9;ReadPosRankSum=0.661;SNPEFF_AMINO_ACID_CHANGE=T641I;SNPEFF_CODON_CHANGE=aCc/aTc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_19924042_19924223;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EFHB;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000344838 GT:AD:DP:GQ:PL 0/1:50,32:82:99:924,0,1579
3 19924372 rs58853219 A AC 302.18 PASS AC=2;AF=1.00;AN=2;DB;DP=8;FS=0.0;HRun=0;HaplotypeScore=16.0534;IndelType=I;MQ=62.65;MQ0=0;QD=37.77;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EFHB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467602 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:344,24,0
3 19925807 rs9882578 A G 719.26 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.89;MQ0=0;QD=34.25;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EFHB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467602 GT:AD:DP:GQ:PL 1/1:0,21:21:57.18:752,57,0
3 19930130 rs76305623 A T 1847.57 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8321;MQ=58.6;MQ0=0;QD=34.86;SNPEFF_AMINO_ACID_CHANGE=M450K;SNPEFF_CODON_CHANGE=aTg/aAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_19929936_19930143;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EFHB;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000344838 GT:AD:DP:GQ:PL 1/1:0,53:53:99:1881,138,0
3 19940877 rs2931385 A G 2554.39 PASS AC=2;AF=1.00;AN=2;DB;DP=72;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9894;MQ=59.68;MQ0=0;QD=35.48;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EFHB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295824 GT:AD:DP:GQ:PL 1/1:0,72:72:99:2587,196,0
3 19941074 rs2931386 A G 2930.23 PASS AC=2;AF=1.00;AN=2;DB;DP=75;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=39.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EFHB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295824 GT:AD:DP:GQ:PL 1/1:0,75:75:99:2963,217,0
3 19946992 rs2931394 G A 1928.44 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.57;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EFHB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295824 GT:AD:DP:GQ:PL 1/1:0,50:50:99:1961,147,0
3 19947296 rs2929377 T C 2072.72 PASS AC=2;AF=1.00;AN=2;DB;DP=69;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.67;MQ0=0;QD=30.04;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EFHB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295824 GT:AD:DP:GQ:PL 1/1:0,69:69:99:2106,174,0
3 19959756 rs2929366 G A 7935.46 PASS AC=2;AF=1.00;AN=2;DB;DP=235;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.6649;MQ=59.48;MQ0=0;QD=33.77;SNPEFF_AMINO_ACID_CHANGE=T119I;SNPEFF_CODON_CHANGE=aCc/aTc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_19959724_19959904;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EFHB;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000440022 GT:AD:DP:GQ:PL 1/1:1,233:235:99:7935,599,0
3 19961330 rs2931403 C T 76.07 QDFilter2 AC=2;AF=1.00;AN=2;DB;DP=131;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.787;MQ=59.82;MQ0=0;QD=0.58;SNPEFF_AMINO_ACID_CHANGE=V201I;SNPEFF_CODON_CHANGE=Gta/Ata;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_19961325_19961468;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EFHB;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000344838 GT:AD:DP:GQ:PL 1/1:0,131:131:12:109,12,0
3 19961331 rs2929362 T C 63.23 QDFilter2 AC=2;AF=1.00;AN=2;DB;DP=130;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.787;MQ=59.82;MQ0=0;QD=0.49;SNPEFF_AMINO_ACID_CHANGE=S200;SNPEFF_CODON_CHANGE=tcA/tcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_19961325_19961468;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EFHB;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000344838 GT:AD:DP:GQ:PL 1/1:0,130:130:11.97:96,12,0
3 19962199 rs2931404 G C 365.32 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=57.66;MQ0=0;QD=36.53;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EFHB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295824 GT:AD:DP:GQ:PL 1/1:0,10:10:30.10:398,30,0
3 19974700 rs2929350 T C 1814.91 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.238;DB;DP=52;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.17;QD=34.9;ReadPosRankSum=-1.121;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EFHB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295824 GT:AD:DP:GQ:PL 1/1:1,51:52:99:1848,103,0
3 19975582 rs2929349 A G 477.15 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.714;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9995;MQ=60.0;MQ0=0;MQRankSum=-0.306;QD=28.07;ReadPosRankSum=1.531;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EFHB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344838 GT:AD:DP:GQ:PL 1/1:1,16:17:10.33:509,10,0
3 19992432 rs6773437 G T 1753.20 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9332;MQ=60.0;MQ0=0;QD=37.3;SNPEFF_AMINO_ACID_CHANGE=T14;SNPEFF_CODON_CHANGE=acG/acT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_19992298_19992553;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RAB5A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000273047 GT:AD:DP:GQ:PL 1/1:0,46:47:99:1786,132,0
3 20017489 rs4858122 G C 935.17 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.4;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PP2D1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000333083 GT:AD:DP:GQ:PL 1/1:0,28:28:72.23:968,72,0
3 20025665 rs34961993 G GGA 626.68 PASS AC=2;AF=1.00;AN=2;DB;DP=11;FS=0.0;HRun=0;HaplotypeScore=24.388;IndelType=I;MQ=60.98;MQ0=0;QD=56.97;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PP2D1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389050 GT:AD:DP:GQ:PL 1/1:0,11:11:33.11:669,33,0
3 20027232 rs2127957 G T 1817.15 PASS AB=0.514;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.746;DB;DP=148;Dels=0.0;FS=0.617;HRun=0;HaplotypeScore=2.6985;MQ=59.53;MQ0=0;MQRankSum=-1.638;QD=12.28;ReadPosRankSum=0.359;SNPEFF_AMINO_ACID_CHANGE=I511;SNPEFF_CODON_CHANGE=atC/atA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_20026872_20027674;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PP2D1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000389050 GT:AD:DP:GQ:PL 0/1:76,72:148:99:1847,0,2483
3 20027837 rs12496392 T G 131.21 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.87;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RAB5A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273047 GT:AD:DP:GQ:PL 1/1:0,6:6:12.04:164,12,0
3 20053581 rs2686326 C T 2048.39 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=59.65;MQ0=0;QD=31.51;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_3_20053542_20053759;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PP2D1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000333083 GT:AD:DP:GQ:PL 1/1:0,65:65:99:2081,166,0
3 20053735 rs2686325 G A 302.47 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.81;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PP2D1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461033 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:335,24,0
3 20113779 rs41285055 G T 1280.69 PASS AB=0.566;AC=1;AF=0.50;AN=2;BaseQRankSum=2.859;DB;DP=106;Dels=0.0;FS=8.274;HRun=0;HaplotypeScore=0.0;MQ=59.78;MQ0=0;MQRankSum=-1.52;QD=12.08;ReadPosRankSum=0.373;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KAT2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263754 GT:AD:DP:GQ:PL 0/1:60,46:106:99:1311,0,1706
3 20114044 rs3828349 T C 362.31 PASS AB=0.659;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.051;DB;DP=44;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=-0.693;QD=8.23;ReadPosRankSum=-0.47;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KAT2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263754 GT:AD:DP:GQ:PL 0/1:29,15:44:99:392,0,1022
3 20136645 rs2293141 A T 64.47 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.248;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.573;QD=7.16;ReadPosRankSum=-0.248;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KAT2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263754 GT:AD:DP:GQ:PL 0/1:6,3:9:94.47:94,0,172
3 20141301 rs11128939 T G 123.88 PASS AB=0.769;AC=1;AF=0.50;AN=2;BaseQRankSum=0.7;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=0.7;QD=4.76;ReadPosRankSum=-0.882;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KAT2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263754 GT:AD:DP:GQ:PL 0/1:20,6:26:99:154,0,626
3 20141356 rs35424474 C T 338.53 PASS AB=0.708;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.915;DB;DP=48;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.397;QD=7.05;ReadPosRankSum=-0.488;SNPEFF_AMINO_ACID_CHANGE=L193;SNPEFF_CODON_CHANGE=ctC/ctT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_20141354_20141446;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KAT2B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000263754 GT:AD:DP:GQ:PL 0/1:34,14:48:99:369,0,1167
3 20143020 rs4858155 G C 295.54 PASS AB=0.565;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.395;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.4942;MQ=59.19;MQ0=0;MQRankSum=-0.217;QD=12.85;ReadPosRankSum=0.775;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KAT2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426228 GT:AD:DP:GQ:PL 0/1:13,10:23:99:326,0,422
3 20156302 rs2365794 T C 293.87 PASS AB=0.474;AC=1;AF=0.50;AN=2;BaseQRankSum=2.799;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.222;QD=15.47;ReadPosRankSum=-0.044;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KAT2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263754 GT:AD:DP:GQ:PL 0/1:9,10:19:99:324,0,263
3 20168875 rs41285061 C G 441.32 PASS AB=0.604;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.413;DB;DP=48;Dels=0.0;FS=1.284;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.37;QD=9.19;ReadPosRankSum=-0.611;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KAT2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469085 GT:AD:DP:GQ:PL 0/1:29,19:48:99:471,0,988
3 20188074 rs2686314 C T 168.07 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=1.139;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.247;QD=10.5;ReadPosRankSum=1.79;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KAT2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468111 GT:AD:DP:GQ:PL 0/1:10,6:16:99:198,0,362
3 20212189 rs1052930 A G 655.27 PASS AB=0.614;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.441;DB;DP=70;Dels=0.0;FS=4.255;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-2.17;QD=9.36;ReadPosRankSum=-1.1;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SGOL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456624 GT:AD:DP:GQ:PL 0/1:43,27:70:99:685,0,1544
3 20212796 rs9828909 G T 68.41 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.406;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=11.4;ReadPosRankSum=0.406;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SGOL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456624 GT:AD:DP:GQ:PL 0/1:3,3:6:98.41:98,0,109
3 20218306 rs77405492 A C 111.65 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.38;QD=18.61;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SGOL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263753 GT:AD:DP:GQ:PL 0/1:2,4:6:62.49:142,0,62
3 20219885 rs6550402 C T 255.62 PASS AB=0.655;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.135;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.643;QD=8.81;ReadPosRankSum=0.077;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SGOL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263753 GT:AD:DP:GQ:PL 0/1:19,10:29:99:286,0,638
3 21179734 rs6800727 C T 556.72 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.802;DB;DP=50;Dels=0.0;FS=14.362;HRun=2;HaplotypeScore=0.0;MQ=59.63;MQ0=0;MQRankSum=-1.515;QD=11.13;ReadPosRankSum=0.465;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AC104441.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408732 GT:AD:DP:GQ:PL 0/1:30,20:50:99:587,0,1064
3 21179803 rs62234921 A T 74.58 PASS AB=0.737;AC=1;AF=0.50;AN=2;BaseQRankSum=1.577;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.01;MQ0=0;MQRankSum=0.789;QD=3.93;ReadPosRankSum=-0.986;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AC104441.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408732 GT:AD:DP:GQ:PL 0/1:14,5:19:99:105,0,488
3 21462754 rs451242 A G 434.84 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.45;SNPEFF_AMINO_ACID_CHANGE=P380;SNPEFF_CODON_CHANGE=ccT/ccC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_21459915_21462939;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF385D;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000281523 GT:AD:DP:GQ:PL 1/1:0,13:13:36.12:468,36,0
3 21462787 rs427233 G A 468.76 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.06;SNPEFF_AMINO_ACID_CHANGE=S369;SNPEFF_CODON_CHANGE=tcC/tcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_21459915_21462939;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF385D;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000281523 GT:AD:DP:GQ:PL 1/1:0,13:13:36.12:502,36,0
3 21462880 rs4455340 A G 226.98 PASS AB=0.385;AC=1;AF=0.50;AN=2;BaseQRankSum=0.533;DB;DP=13;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.7887;MQ=58.2;MQ0=0;MQRankSum=-0.212;QD=17.46;ReadPosRankSum=0.817;SNPEFF_AMINO_ACID_CHANGE=N338;SNPEFF_CODON_CHANGE=aaT/aaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_21459915_21462939;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF385D;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000281523 GT:AD:DP:GQ:PL 0/1:5,8:13:99:257,0,147
3 21478715 rs112819178 G GA 164.97 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.507;DB;DP=21;FS=2.813;HRun=6;HaplotypeScore=48.8157;IndelType=I;MQ=61.02;MQ0=0;MQRankSum=0.803;QD=7.86;ReadPosRankSum=-0.718;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF385D;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281523 GT:AD:DP:GQ:PL 0/1:14,7:21:99:204,0,310
3 21606027 rs3841545 AT A 124.97 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=2.108;DB;DP=28;FS=0.0;HRun=12;HaplotypeScore=115.6221;IndelType=D;MQ=58.73;MQ0=0;MQRankSum=0.849;QD=4.46;ReadPosRankSum=0.411;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF385D;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000494108 GT:AD:DP:GQ:PL 0/1:16,11:28:99:164,0,347
3 21871299 rs2670251 T C 130.24 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.56;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF385D;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000494108 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:163,12,0
3 22423131 rs3749375 G A 42.85 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=10.71;ReadPosRankSum=0.0;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_processed_pseudogene;SNPEFF_GENE_NAME=HMGB1P5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000255320 GT:AD:DP:GQ:PL 0/1:2,2:4:64.25:73,0,64
3 22423338 rs4472062 G C 859.76 MQFilter40 AB=0.581;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.134;DB;DP=93;Dels=0.0;FS=8.173;HRun=0;HaplotypeScore=1.9932;MQ=34.7;MQ0=8;MQRankSum=0.601;QD=9.24;ReadPosRankSum=-0.529;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_processed_pseudogene;SNPEFF_GENE_NAME=HMGB1P5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000255320 GT:AD:DP:GQ:PL 0/1:54,39:93:99:890,0,1243
3 22423915 . TGAAGAAGATGAA T 358 PASS AB=0.769;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.843;DP=16;FS=2.632;HRun=0;HaplotypeScore=196.2384;IndelType=D;MQ=36.7;MQ0=1;MQRankSum=-0.779;QD=17.9;ReadPosRankSum=-0.869;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_processed_pseudogene;SNPEFF_GENE_NAME=HMGB1P5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000255320 GT:AD:DP:GQ:PL 0/1:14,6:16:99:397,0,971
3 22423998 rs13070522 C T 265.51 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.41;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=46.6;MQ0=0;MQRankSum=0.308;QD=10.21;ReadPosRankSum=0.256;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=transcribed_processed_pseudogene;SNPEFF_GENE_NAME=HMGB1P5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000255320 GT:AD:DP:GQ:PL 0/1:13,13:26:99:296,0,352
3 23540927 rs7614195 T C 87.78 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBE2E2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000396703 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:120,9,0
3 23986629 rs193249552 G A 38.32 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=47.12;MQ0=0;QD=19.16;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NKIRAS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421515 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:70,6,0
3 23986930 rs4858565 A C 42.68 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.34;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NKIRAS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421515 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:74,6,0
3 23996371 rs4858095 T G 242.46 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.355;DB;DP=15;Dels=0.0;FS=3.136;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.884;QD=16.16;ReadPosRankSum=-0.412;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NR1D2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000312521 GT:AD:DP:GQ:PL 0/1:6,9:15:99:272,0,194
3 23997547 rs61732086 A G 983.59 PASS AB=0.611;AC=1;AF=0.50;AN=2;BaseQRankSum=3.193;DB;DP=90;Dels=0.0;FS=9.082;HRun=0;HaplotypeScore=2.4836;MQ=59.74;MQ0=0;MQRankSum=0.57;QD=10.93;ReadPosRankSum=1.674;SNPEFF_AMINO_ACID_CHANGE=L101;SNPEFF_CODON_CHANGE=ctA/ctG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_23997528_23997616;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NR1D2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000312521 GT:AD:DP:GQ:PL 0/1:55,35:90:99:1014,0,1422
3 24001078 rs4321479 C T 381.74 PASS AB=0.552;AC=1;AF=0.50;AN=2;BaseQRankSum=0.767;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9933;MQ=60.0;MQ0=0;MQRankSum=-0.11;QD=13.16;ReadPosRankSum=0.855;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NR1D2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000312521 GT:AD:DP:GQ:PL 0/1:16,13:29:99:412,0,568
3 24006477 rs4858097 T A 1998.46 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9983;MQ=59.65;MQ0=0;QD=30.75;SNPEFF_AMINO_ACID_CHANGE=L386M;SNPEFF_CODON_CHANGE=Ttg/Atg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_24006468_24006653;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NR1D2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000312521 GT:AD:DP:GQ:PL 1/1:0,65:65:99:2031,156,0
3 24006725 . TC T 121.81 PASS AB=0.727;AC=1;AF=0.50;AN=2;BaseQRankSum=1.562;DP=16;FS=0.0;HRun=1;HaplotypeScore=151.7356;IndelType=D;MQ=46.19;MQ0=0;MQRankSum=-2.025;QD=7.61;ReadPosRankSum=0.984;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NR1D2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468700 GT:AD:DP:GQ:PL 0/1:10,6:16:99:161,0,149
3 24009279 rs67657770 A C 324.37 PASS AB=0.633;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.473;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9916;MQ=60.0;MQ0=0;MQRankSum=-0.603;QD=10.81;ReadPosRankSum=0.947;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NR1D2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000312521 GT:AD:DP:GQ:PL 0/1:19,11:30:99:354,0,675
3 24168981 rs13063628 C T 688.68 PASS AB=0.478;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.396;DB;DP=46;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.077;QD=14.97;ReadPosRankSum=-0.077;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=THRB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000280696 GT:AD:DP:GQ:PL 0/1:22,24:46:99:719,0,680
3 24185307 rs3772382 C T 194.44 PASS AB=0.143;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.742;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.742;QD=27.78;ReadPosRankSum=-0.742;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=THRB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000413780 GT:AD:DP:GQ:PL 0/1:1,6:7:21.16:224,0,21
3 24232035 rs13096529 C T 74.60 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=THRB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356447 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:107,9,0
3 24270263 rs7642896 G C 121.11 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=1.653;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.45;MQ0=0;MQRankSum=0.061;QD=8.07;ReadPosRankSum=-1.041;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=THRB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356447 GT:AD:DP:GQ:PL 0/1:10,5:15:99:151,0,330
3 24270500 rs35719101 G GA 452.20 PASS AB=0.702;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.99;DB;DP=40;FS=4.499;HRun=6;HaplotypeScore=101.5975;IndelType=I;MQ=58.05;MQ0=0;MQRankSum=-1.831;QD=11.31;ReadPosRankSum=-0.398;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=THRB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356447 GT:AD:DP:GQ:PL 0/1:23,17:40:99:491,0,504
3 25611472 rs142866283 GACACACACAC G 970.73 PASS AC=2;AF=1.00;AN=2;DB;DP=30;FS=0.0;HRun=0;HaplotypeScore=292.0851;IndelType=D;MQ=48.03;MQ0=0;QD=32.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RARB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000330688 GT:AD:DP:GQ:PL 1/1:18,8:30:39.12:1013,39,0
3 25611626 rs1656455 C T 89.85 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.46;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RARB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000330688 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:122,9,0
3 25639973 rs11372851 A AT 1471.88 PASS AC=2;AF=1.00;AN=2;DB;DP=50;FS=0.0;HRun=8;HaplotypeScore=121.1385;IndelType=I;MQ=60.41;MQ0=0;QD=29.44;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RARB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000330688 GT:AD:DP:GQ:PL 1/1:7,43:50:99:1514,132,0
3 25650528 rs2364586 T C 258.21 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.89;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=TOP2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475717 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:291,21,0
3 25660094 rs76459841 G GT 1721.93 PASS AC=2;AF=1.00;AN=2;DB;DP=56;FS=0.0;HRun=8;HaplotypeScore=121.3736;IndelType=I;MQ=58.47;MQ0=0;QD=30.75;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=TOP2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264331 GT:AD:DP:GQ:PL 1/1:5,51:56:99:1764,153,0
3 25661557 rs3832214 T TA 336.35 PASS AC=2;AF=1.00;AN=2;DB;DP=10;FS=0.0;HRun=3;HaplotypeScore=24.4451;IndelType=I;MQ=60.0;MQ0=0;QD=33.63;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=TOP2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470132 GT:AD:DP:GQ:PL 1/1:0,10:10:27.09:378,27,0
3 25664830 rs1561033 C T 72.02 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=18.0;ReadPosRankSum=0.727;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=TOP2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470132 GT:AD:DP:GQ:PL 0/1:1,3:4:30.19:102,0,30
3 25666156 rs2293787 C T 2156.24 PASS AB=0.503;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.939;DB;DP=153;Dels=0.0;FS=1.35;HRun=2;HaplotypeScore=1.9815;MQ=59.7;MQ0=0;MQRankSum=0.207;QD=14.09;ReadPosRankSum=-0.128;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=TOP2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491510 GT:AD:DP:GQ:PL 0/1:77,76:153:99:2186,0,2283
3 25671778 rs3736605 C T 1200.79 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.31;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=TOP2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264331 GT:AD:DP:GQ:PL 1/1:0,35:35:90.28:1234,90,0
3 25673776 rs3736603 C T 169.59 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.92;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=TOP2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264331 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:202,15,0
3 25673835 rs3736602 A C 315.19 PASS AB=0.091;AC=1;AF=0.50;AN=2;BaseQRankSum=0.158;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9665;MQ=60.0;MQ0=0;MQRankSum=0.474;QD=28.65;ReadPosRankSum=-1.423;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=TOP2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264331 GT:AD:DP:GQ:PL 0/1:1,10:11:11.66:345,0,12
3 25674091 rs3736601 C A 3315.04 PASS AC=2;AF=1.00;AN=2;DB;DP=112;Dels=0.0;FS=0.0;HRun=6;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;QD=29.6;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=TOP2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264331 GT:AD:DP:GQ:PL 1/1:0,112:112:99:3315,289,0
3 25674484 rs11709485 C T 159.91 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.98;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=TOP2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264331 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:193,15,0
3 25675637 rs1344827 T C 106.46 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.62;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=TOP2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000535930 GT:AD:DP:GQ:PL 1/1:0,4:4:12.03:139,12,0
3 25679474 rs10510570 T A 90.27 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.09;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=TOP2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000535930 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:122,9,0
3 25679738 rs60422476 T C 2492.38 PASS AC=2;AF=1.00;AN=2;DB;DP=75;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=52.48;MQ0=0;QD=33.23;SNPEFF_AMINO_ACID_CHANGE=V148;SNPEFF_CODON_CHANGE=gtA/gtG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_25679656_25679801;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=TOP2B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000424225 GT:AD:DP:GQ:PL 1/1:0,75:75:99:2525,205,0
3 25683930 rs11705878 A C 258.16 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=1.468;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.715;QD=18.44;ReadPosRankSum=1.109;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=TOP2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264331 GT:AD:DP:GQ:PL 0/1:6,8:14:99:288,0,208
3 25761373 rs5847370 A AT 153.10 PASS AC=2;AF=1.00;AN=2;DB;DP=8;FS=0.0;HRun=13;HaplotypeScore=24.1199;IndelType=I;MQ=61.34;MQ0=0;QD=19.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NGLY1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000280700 GT:AD:DP:GQ:PL 1/1:1,7:8:21.02:195,21,0
3 25773597 rs10780014 T G 238.76 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.62;MQ0=0;QD=34.11;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NGLY1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000280700 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:272,21,0
3 25775253 rs1488992 T C 195.99 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.66;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NGLY1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000280700 GT:AD:DP:GQ:PL 1/1:0,6:6:18.05:229,18,0
3 25775356 rs6550987 A C 1176.37 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.79;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NGLY1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000280700 GT:AD:DP:GQ:PL 1/1:0,37:37:93.30:1209,93,0
3 25777564 . G T 61.29 QDFilter2 AB=0.579;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.449;DP=38;Dels=0.0;FS=45.171;HRun=2;HaplotypeScore=3.9322;MQ=57.65;MQ0=0;MQRankSum=-1.486;QD=1.61;ReadPosRankSum=-0.743;SNPEFF_AMINO_ACID_CHANGE=D318E;SNPEFF_CODON_CHANGE=gaC/gaA;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_25777495_25777640;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NGLY1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000417874 GT:AD:DP:GQ:PL 0/1:22,16:38:91.28:91,0,728
3 25805390 rs2101477 C T 127.77 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.94;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NGLY1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461491 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:160,12,0
3 25805879 rs11129208 T C 828.24 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.733;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.2;MQ0=0;MQRankSum=0.538;QD=28.56;ReadPosRankSum=-1.135;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NGLY1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000280700 GT:AD:DP:GQ:PL 1/1:1,28:29:36.48:861,36,0
3 25835860 rs151328335 G C 674.37 PASS AB=0.621;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.377;DB;DP=59;Dels=0.0;FS=1.014;HRun=0;HaplotypeScore=0.9973;MQ=59.22;MQ0=0;MQRankSum=0.024;QD=11.43;ReadPosRankSum=0.553;SNPEFF_AMINO_ACID_CHANGE=E336Q;SNPEFF_CODON_CHANGE=Gaa/Caa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_25835583_25836025;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=OXSM;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000420173 GT:AD:DP:GQ:PL 0/1:36,22:59:99:704,0,1160
3 25836023 rs9831075 C T 921.06 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.43;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=OXSM;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000428266 GT:AD:DP:GQ:PL 1/1:0,26:26:69.23:954,69,0
3 25836088 rs9834955 C A 273.26 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.16;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=OXSM;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000280701 GT:AD:DP:GQ:PL 1/1:0,8:8:24.06:306,24,0
3 25900464 rs4681081 T C 90.47 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=48.14;MQ0=0;QD=18.09;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC103588.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000451284 GT:AD:DP:GQ:PL 1/1:0,5:5:12.01:123,12,0
3 25904394 rs6550999 T C 487.94 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.53;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC103588.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000451284 GT:AD:DP:GQ:PL 1/1:0,13:13:39.13:521,39,0
3 27184801 rs10865812 T A 159.75 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.936;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=0.068;QD=11.41;ReadPosRankSum=1.154;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEK10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295720 GT:AD:DP:GQ:PL 0/1:7,7:14:99:190,0,226
3 27203864 rs62255210 C T 346.89 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.107;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=57.77;MQ0=0;MQRankSum=-0.675;QD=16.52;ReadPosRankSum=-0.604;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEK10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295720 GT:AD:DP:GQ:PL 0/1:9,12:21:99:377,0,297
3 27204052 rs17854381 G A 549.50 PASS AB=0.574;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.496;DB;DP=47;Dels=0.0;FS=1.176;HRun=0;HaplotypeScore=0.0;MQ=59.51;MQ0=0;MQRankSum=-0.054;QD=11.69;ReadPosRankSum=-1.926;SNPEFF_AMINO_ACID_CHANGE=H282;SNPEFF_CODON_CHANGE=caC/caT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_27203952_27204092;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEK10;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000295720 GT:AD:DP:GQ:PL 0/1:27,20:47:99:579,0,845
3 27233376 rs11926580 G T 64.46 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.406;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.537;QD=10.74;ReadPosRankSum=1.537;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEK10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295720 GT:AD:DP:GQ:PL 0/1:3,3:6:94.45:94,0,105
3 27233498 rs11926556 C A 575.53 PASS AB=0.457;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.294;DB;DP=35;Dels=0.0;FS=1.884;HRun=0;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=2.156;QD=16.44;ReadPosRankSum=-1.915;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEK10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295720 GT:AD:DP:GQ:PL 0/1:16,19:35:99:606,0,530
3 27243045 rs17680166 G C 682.75 PASS AB=0.565;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.541;DB;DP=62;Dels=0.0;FS=2.199;HRun=0;HaplotypeScore=0.9789;MQ=60.0;MQ0=0;MQRankSum=-1.477;QD=11.01;ReadPosRankSum=-2.541;SNPEFF_AMINO_ACID_CHANGE=V146;SNPEFF_CODON_CHANGE=gtC/gtG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_27243001_27243071;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEK10;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000357467 GT:AD:DP:GQ:PL 0/1:35,27:62:99:713,0,1140
3 27243119 rs17680194 G A 557.38 PASS AB=0.486;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.459;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.4725;MQ=60.0;MQ0=0;MQRankSum=-1.7;QD=15.93;ReadPosRankSum=-0.248;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEK10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295720 GT:AD:DP:GQ:PL 0/1:17,18:35:99:587,0,605
3 27243871 rs34940413 T C 272.90 PASS AB=0.607;AC=1;AF=0.50;AN=2;BaseQRankSum=0.047;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.552;QD=9.75;ReadPosRankSum=0.706;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEK10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295720 GT:AD:DP:GQ:PL 0/1:17,11:28:99:303,0,522
3 27296796 rs1550769 C G 567.11 PASS AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=0.979;DB;DP=38;Dels=0.0;FS=3.108;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.973;QD=14.92;ReadPosRankSum=-0.073;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEK10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341435 GT:AD:DP:GQ:PL 0/1:20,18:38:99:597,0,620
3 27296822 rs1550768 A T 374.83 PASS AB=0.567;AC=1;AF=0.50;AN=2;BaseQRankSum=3.055;DB;DP=30;Dels=0.0;FS=3.532;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.335;QD=12.49;ReadPosRankSum=-1.088;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEK10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341435 GT:AD:DP:GQ:PL 0/1:17,13:30:99:405,0,578
3 27297816 rs3213930 G C 279.42 PASS AB=0.621;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.539;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9999;MQ=60.0;MQ0=0;MQRankSum=0.382;QD=9.64;ReadPosRankSum=-0.202;SNPEFF_AMINO_ACID_CHANGE=T687;SNPEFF_CODON_CHANGE=acC/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_27297787_27297862;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEK10;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000341435 GT:AD:DP:GQ:PL 0/1:18,11:29:99:309,0,603
3 27326097 rs11129280 G T 671.44 PASS AB=0.532;AC=1;AF=0.50;AN=2;BaseQRankSum=5.149;DB;DP=47;Dels=0.0;FS=7.489;HRun=0;HaplotypeScore=1.6809;MQ=60.0;MQ0=0;MQRankSum=0.181;QD=14.29;ReadPosRankSum=-0.394;SNPEFF_AMINO_ACID_CHANGE=T670;SNPEFF_CODON_CHANGE=acC/acA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_27326093_27326195;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEK10;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000341435 GT:AD:DP:GQ:PL 0/1:25,22:47:99:701,0,696
3 27326451 rs10510594 A G 829.76 PASS AB=0.618;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.22;DB;DP=90;Dels=0.0;FS=2.068;HRun=0;HaplotypeScore=0.8667;MQ=59.79;MQ0=0;MQRankSum=-0.089;QD=9.22;ReadPosRankSum=-1.355;SNPEFF_AMINO_ACID_CHANGE=N597;SNPEFF_CODON_CHANGE=aaT/aaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_27326331_27326452;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEK10;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000341435 GT:AD:DP:GQ:PL 0/1:55,34:90:99:860,0,1807
3 27326553 rs34894168 AC A 287.68 PASS AB=0.654;AC=1;AF=0.50;AN=2;BaseQRankSum=3.416;DB;DP=17;FS=0.0;HRun=1;HaplotypeScore=39.0145;IndelType=D;MQ=60.63;MQ0=0;MQRankSum=-0.337;QD=16.92;ReadPosRankSum=-0.433;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEK10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341435 GT:AD:DP:GQ:PL 0/1:8,9:17:99:327,0,333
3 27329417 rs10510593 A C 113.31 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.731;QD=22.66;ReadPosRankSum=0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEK10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341435 GT:AD:DP:GQ:PL 0/1:1,4:5:25.60:143,0,26
3 27332282 rs62255594 C T 641.76 PASS AB=0.609;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.238;DB;DP=64;Dels=0.0;FS=2.573;HRun=0;HaplotypeScore=0.0;MQ=59.28;MQ0=0;MQRankSum=-0.812;QD=10.03;ReadPosRankSum=0.523;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEK10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341435 GT:AD:DP:GQ:PL 0/1:39,25:64:99:672,0,1181
3 27332820 rs10510592 A G 1850.63 PASS AB=0.469;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.639;DB;DP=130;Dels=0.0;FS=0.675;HRun=0;HaplotypeScore=3.6289;MQ=59.5;MQ0=0;MQRankSum=0.524;QD=14.24;ReadPosRankSum=-1.359;SNPEFF_AMINO_ACID_CHANGE=L513S;SNPEFF_CODON_CHANGE=tTg/tCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_27332753_27332881;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEK10;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000341435 GT:AD:DP:GQ:PL 0/1:61,69:130:99:1881,0,2044
3 27337379 rs472146 T C 35.55 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=11.85;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEK10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341435 GT:AD:DP:GQ:PL 0/1:1,2:3:33.62:66,0,34
3 27350384 rs77257134 G T 591.34 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.307;DB;DP=35;Dels=0.0;FS=6.557;HRun=0;HaplotypeScore=0.0;MQ=59.34;MQ0=0;MQRankSum=1.397;QD=16.9;ReadPosRankSum=1.296;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEK10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491627 GT:AD:DP:GQ:PL 0/1:14,21:35:99:621,0,439
3 27353716 rs552647 C A 511.73 PASS AB=0.578;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.931;DB;DP=45;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=60.0;MQ0=0;MQRankSum=0.977;QD=11.37;ReadPosRankSum=0.54;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEK10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341435 GT:AD:DP:GQ:PL 0/1:26,19:45:99:542,0,859
3 27355541 rs1472145 T C 61.98 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=15.5;ReadPosRankSum=-0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEK10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341435 GT:AD:DP:GQ:PL 0/1:1,3:4:16.62:92,0,17
3 27363637 rs34100200 T TA 240.69 PASS AB=0.729;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.708;DB;DP=35;FS=0.0;HRun=11;HaplotypeScore=89.6761;IndelType=I;MQ=59.65;MQ0=0;MQRankSum=-0.239;QD=6.88;ReadPosRankSum=1.308;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEK10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000435750 GT:AD:DP:GQ:PL 0/1:22,13:35:99:280,0,366
3 27387462 rs56104872 G GGTAA 2576.62 PASS AC=2;AF=1.00;AN=2;DB;DP=33;FS=0.0;HRun=0;HaplotypeScore=227.75;IndelType=I;MQ=51.34;MQ0=0;QD=78.08;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEK10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341435 GT:AD:DP:GQ:PL 1/1:0,32:33:99:2619,99,0
3 27394419 rs12494966 T G 592.36 PASS AB=0.474;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.512;DB;DP=38;Dels=0.0;FS=2.258;HRun=0;HaplotypeScore=0.9993;MQ=59.51;MQ0=0;MQRankSum=-1.623;QD=15.59;ReadPosRankSum=0.921;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEK10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341435 GT:AD:DP:GQ:PL 0/1:18,20:38:99:622,0,541
3 27421024 rs11709103 G A 240.76 PASS AB=0.385;AC=1;AF=0.50;AN=2;BaseQRankSum=2.163;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=-0.212;QD=18.52;ReadPosRankSum=0.437;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC4A7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295736 GT:AD:DP:GQ:PL 0/1:5,8:13:99:271,0,164
3 27424718 rs1472256 A G 1612.82 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9159;MQ=59.54;MQ0=0;QD=32.26;SNPEFF_AMINO_ACID_CHANGE=D1039;SNPEFF_CODON_CHANGE=gaT/gaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_27424644_27424741;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC4A7;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000428386 GT:AD:DP:GQ:PL 1/1:0,49:50:99:1646,123,0
3 27427616 rs17630711 A G 347.47 PASS AB=0.516;AC=1;AF=0.50;AN=2;BaseQRankSum=0.436;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.769;QD=11.21;ReadPosRankSum=-0.977;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC4A7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295736 GT:AD:DP:GQ:PL 0/1:16,15:31:99:377,0,578
3 27433397 rs2307035 A T 99.05 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9998;MQ=60.0;MQ0=0;MQRankSum=0.72;QD=16.51;ReadPosRankSum=-0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC4A7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295736 GT:AD:DP:GQ:PL 0/1:2,4:6:64.94:129,0,65
3 27435773 rs7623550 T G 72.89 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.22;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC4A7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475120 GT:AD:DP:GQ:PL 1/1:0,4:4:9.01:105,9,0
3 27439549 rs2055122 C T 49.30 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.65;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC4A7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295736 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
3 27444524 rs1967131 G C 138.60 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.588;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.905;QD=8.66;ReadPosRankSum=-1.588;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC4A7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295736 GT:AD:DP:GQ:PL 0/1:9,7:16:99:169,0,310
3 27446285 rs13063291 T A 669.25 PASS AB=0.303;AC=1;AF=0.50;AN=2;BaseQRankSum=3.467;DB;DP=33;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.43;MQ0=0;MQRankSum=-0.333;QD=20.28;ReadPosRankSum=0.803;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC4A7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295736 GT:AD:DP:GQ:PL 0/1:10,23:33:99:699,0,314
3 27451106 rs9828914 G C 131.73 PASS AB=0.588;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.342;DB;DP=17;Dels=0.0;FS=3.854;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.049;QD=7.75;ReadPosRankSum=-0.927;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC4A7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295736 GT:AD:DP:GQ:PL 0/1:10,7:17:99:162,0,369
3 27463229 rs79251239 C T 920.46 PASS AB=0.585;AC=1;AF=0.50;AN=2;BaseQRankSum=3.414;DB;DP=94;Dels=0.0;FS=1.912;HRun=1;HaplotypeScore=0.6651;MQ=59.26;MQ0=0;MQRankSum=-0.86;QD=9.79;ReadPosRankSum=0.836;SNPEFF_AMINO_ACID_CHANGE=E303;SNPEFF_CODON_CHANGE=gaG/gaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_27463113_27463270;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC4A7;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000428386 GT:AD:DP:GQ:PL 0/1:55,39:94:99:950,0,1643
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3 28552310 rs6777813 A T 92.60 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZCWPW2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000383768 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:125,9,0
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3 29529913 rs78520827 TTC T 329.68 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=4.013;DB;DP=28;FS=0.0;HRun=0;HaplotypeScore=133.7761;IndelType=D;MQ=58.37;MQ0=0;MQRankSum=1.068;QD=11.77;ReadPosRankSum=-1.184;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RBMS3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273139 GT:AD:DP:GQ:PL 0/1:16,12:28:99:369,0,510
3 29628722 rs56049588 T C 69.43 HaplotypeScoreFilter13 AB=0.645;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.765;DB;DP=31;Dels=0.03;FS=21.795;HRun=0;HaplotypeScore=25.635;MQ=40.0;MQ0=0;MQRankSum=1.972;QD=2.17;ReadPosRankSum=-2.024;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RBMS3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273139 GT:AD:DP:GQ:PL 0/1:20,11:31:49.43:99,0,49
3 29804300 rs7340719 C A 106.55 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.421;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9894;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=13.32;ReadPosRankSum=0.922;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RBMS3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273139 GT:AD:DP:GQ:PL 0/1:4,4:8:99:137,0,122
3 29804487 rs1371839 A T 361.94 PASS AB=0.481;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.189;DB;DP=27;Dels=0.0;FS=1.623;HRun=0;HaplotypeScore=0.9894;MQ=60.0;MQ0=0;MQRankSum=0.267;QD=13.41;ReadPosRankSum=-0.315;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RBMS3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273139 GT:AD:DP:GQ:PL 0/1:13,14:27:99:392,0,388
3 29804509 rs1371840 T C 328.53 PASS AB=0.48;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.04;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.299;QD=13.14;ReadPosRankSum=-1.169;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RBMS3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273139 GT:AD:DP:GQ:PL 0/1:12,13:25:99:359,0,349
3 29922333 rs13324314 C T 961.88 PASS AB=0.519;AC=1;AF=0.50;AN=2;BaseQRankSum=3.176;DB;DP=77;Dels=0.0;FS=3.087;HRun=0;HaplotypeScore=0.8667;MQ=59.7;MQ0=0;MQRankSum=1.829;QD=12.49;ReadPosRankSum=2.116;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RBMS3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273139 GT:AD:DP:GQ:PL 0/1:40,37:77:99:992,0,987
3 29925518 rs2218724 A G 99.64 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.927;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.978;QD=7.66;ReadPosRankSum=0.533;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RBMS3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273139 GT:AD:DP:GQ:PL 0/1:8,5:13:99:130,0,288
3 29977739 rs1449287 T C 588.77 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.8;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RBMS3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273139 GT:AD:DP:GQ:PL 1/1:0,16:16:48.12:622,48,0
3 29985934 rs35921382 G A 94.66 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RBMS3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273139 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:127,9,0
3 30032626 rs114278295 C G 388.55 PASS AB=0.619;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.717;DB;DP=42;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.1968;MQ=60.0;MQ0=0;MQRankSum=-0.583;QD=9.25;ReadPosRankSum=0.842;SNPEFF_AMINO_ACID_CHANGE=T393;SNPEFF_CODON_CHANGE=acC/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_30032573_30032700;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RBMS3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000383766 GT:AD:DP:GQ:PL 0/1:26,16:42:99:419,0,807
3 30656168 rs6791557 G A 1018.62 PASS AB=0.523;AC=1;AF=0.50;AN=2;BaseQRankSum=1.411;DB;DP=86;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.8666;MQ=59.73;MQ0=0;MQRankSum=-0.56;QD=11.84;ReadPosRankSum=1.357;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TGFBR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295754 GT:AD:DP:GQ:PL 0/1:45,41:86:99:1049,0,1315
3 30686414 rs1155705 A G 356.23 PASS AB=0.681;AC=1;AF=0.50;AN=2;BaseQRankSum=1.779;DB;DP=47;Dels=0.0;FS=7.715;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.06;QD=7.58;ReadPosRankSum=0.68;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TGFBR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295754 GT:AD:DP:GQ:PL 0/1:32,15:47:99:386,0,935
3 30713126 rs11466512 T A 736.64 PASS AB=0.409;AC=1;AF=0.50;AN=2;BaseQRankSum=3.067;DB;DP=44;Dels=0.0;FS=1.333;HRun=1;HaplotypeScore=0.9665;MQ=59.01;MQ0=0;MQRankSum=-0.561;QD=16.74;ReadPosRankSum=2.733;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TGFBR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295754 GT:AD:DP:GQ:PL 0/1:18,26:44:99:767,0,471
3 30769514 rs9879502 A T 45.26 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.988;DB;DP=6;Dels=0.0;FS=0.0;HRun=11;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.988;QD=7.54;ReadPosRankSum=0.406;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GADL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000498387 GT:AD:DP:GQ:PL 0/1:3,3:6:75.25:75,0,104
3 30769948 rs7617829 C T 159.99 PASS AB=0.647;AC=1;AF=0.50;AN=2;BaseQRankSum=0.705;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.9;MQ0=0;MQRankSum=1.139;QD=9.41;ReadPosRankSum=1.03;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GADL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282538 GT:AD:DP:GQ:PL 0/1:11,6:17:99:190,0,328
3 30819435 rs1157800 C G 35.74 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GADL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282538 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:67,6,0
3 30819765 rs1157799 G T 797.17 PASS AB=0.548;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.495;DB;DP=62;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9979;MQ=60.17;MQ0=0;MQRankSum=0.499;QD=12.86;ReadPosRankSum=0.876;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GADL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282538 GT:AD:DP:GQ:PL 0/1:34,28:62:99:827,0,1072
3 30819831 rs35503213 ACT A 210.18 PASS AB=0.741;AC=1;AF=0.50;AN=2;BaseQRankSum=3.566;DB;DP=20;FS=0.0;HRun=0;HaplotypeScore=79.0317;IndelType=D;MQ=60.54;MQ0=0;MQRankSum=-0.238;QD=10.51;ReadPosRankSum=-0.079;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GADL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282538 GT:AD:DP:GQ:PL 0/1:13,7:20:99:249,0,645
3 30827904 rs6550024 A G 190.57 PASS AB=0.632;AC=1;AF=0.50;AN=2;BaseQRankSum=0.465;DB;DP=19;Dels=0.0;FS=5.798;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.887;QD=10.03;ReadPosRankSum=-0.127;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GADL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282538 GT:AD:DP:GQ:PL 0/1:12,7:19:99:221,0,409
3 30875569 rs111416411 G A 180.59 PASS AB=0.588;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.244;DB;DP=17;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.61;QD=10.62;ReadPosRankSum=-0.146;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GADL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282538 GT:AD:DP:GQ:PL 0/1:10,7:17:99:211,0,366
3 31617725 rs4574331 G A 49.99 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=STT3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295770 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
3 31621228 rs58289734 T TAAA 767.66 PASS AC=2;AF=1.00;AN=2;DB;DP=12;FS=0.0;HRun=1;HaplotypeScore=32.0056;IndelType=I;MQ=55.8;MQ0=0;QD=63.97;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=STT3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295770 GT:AD:DP:GQ:PL 1/1:0,10:12:36.12:810,36,0
3 31642037 rs11713598 A T 350.33 PASS AB=0.235;AC=1;AF=0.50;AN=2;BaseQRankSum=1.189;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.396;QD=20.61;ReadPosRankSum=0.396;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=STT3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295770 GT:AD:DP:GQ:PL 0/1:4,13:17:99:380,0,120
3 31659398 rs141869599 G A 733.28 PASS AB=0.481;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.472;DB;DP=52;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9578;MQ=59.11;MQ0=0;MQRankSum=0.779;QD=14.1;ReadPosRankSum=-0.993;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=STT3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462235 GT:AD:DP:GQ:PL 0/1:25,27:52:99:763,0,633
3 31663476 rs80348727 C T 118.42 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.652;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.7887;MQ=47.03;MQ0=0;MQRankSum=-0.361;QD=13.16;ReadPosRankSum=1.159;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=STT3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000423527 GT:AD:DP:GQ:PL 0/1:4,5:9:99:148,0,133
3 31663515 rs10662891 A AGTGTG 1584.43 PASS AC=2;AF=1.00;AN=2;DB;DP=18;FS=0.0;HRun=0;HaplotypeScore=82.2111;IndelType=I;MQ=48.63;MQ0=0;QD=88.02;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=STT3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000423527 GT:AD:DP:GQ:PL 1/1:1,16:18:54.18:1626,54,0
3 31666357 rs79094690 C A 703.40 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.976;DB;DP=44;Dels=0.0;FS=9.361;HRun=0;HaplotypeScore=0.9997;MQ=60.0;MQ0=0;MQRankSum=-0.814;QD=15.99;ReadPosRankSum=0.449;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=STT3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000423527 GT:AD:DP:GQ:PL 0/1:22,22:44:99:733,0,711
3 31667291 rs4955108 A G 131.78 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=STT3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295770 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:164,12,0
3 31677395 rs11129457 T G 328.46 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.5;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=STT3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295770 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:361,27,0
3 31705649 rs2305610 C T 699.86 PASS AB=0.597;AC=1;AF=0.50;AN=2;BaseQRankSum=0.29;DB;DP=63;Dels=0.0;FS=3.847;HRun=0;HaplotypeScore=1.5317;MQ=59.27;MQ0=0;MQRankSum=1.879;QD=11.11;ReadPosRankSum=-0.041;SNPEFF_AMINO_ACID_CHANGE=L660;SNPEFF_CODON_CHANGE=ctG/ctA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_31705571_31705724;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OSBPL10;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000438237 GT:AD:DP:GQ:PL 0/1:37,25:63:99:730,0,985
3 31712176 rs3749406 G T 332.78 PASS AB=0.56;AC=1;AF=0.50;AN=2;BaseQRankSum=0.246;DB;DP=25;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.52;QD=13.31;ReadPosRankSum=-0.63;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OSBPL10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000396556 GT:AD:DP:GQ:PL 0/1:14,11:25:99:363,0,475
3 31712393 rs3749405 C T 820.98 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=3.799;DB;DP=40;Dels=0.0;FS=5.395;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.201;QD=20.52;ReadPosRankSum=-0.391;SNPEFF_AMINO_ACID_CHANGE=P539;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_31712289_31712475;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OSBPL10;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000438237 GT:AD:DP:GQ:PL 0/1:15,25:40:99:851,0,408
3 31725196 rs17849744 G A 1061.26 PASS AB=0.474;AC=1;AF=0.50;AN=2;BaseQRankSum=1.225;DB;DP=77;Dels=0.0;FS=0.883;HRun=0;HaplotypeScore=1.9523;MQ=59.7;MQ0=0;MQRankSum=1.363;QD=13.78;ReadPosRankSum=-0.016;SNPEFF_AMINO_ACID_CHANGE=C488;SNPEFF_CODON_CHANGE=tgC/tgT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_31725126_31725606;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OSBPL10;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000438237 GT:AD:DP:GQ:PL 0/1:36,40:77:99:1091,0,880
3 31725672 rs112834856 TA T 121.05 PASS AB=0.778;AC=1;AF=0.50;AN=2;BaseQRankSum=3.075;DB;DP=21;FS=0.0;HRun=3;HaplotypeScore=80.7793;IndelType=D;MQ=58.89;MQ0=0;MQRankSum=1.362;QD=5.76;ReadPosRankSum=2.919;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OSBPL10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000396556 GT:AD:DP:GQ:PL 0/1:15,6:21:99:160,0,580
3 31725691 rs2278960 T C 173.61 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=1.097;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.33;MQ0=0;MQRankSum=0.71;QD=12.4;ReadPosRankSum=-1.614;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OSBPL10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000396556 GT:AD:DP:GQ:PL 0/1:8,6:14:99:204,0,270
3 31725746 rs12488137 C A 61.37 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=1.001;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.1567;MQ=60.0;MQ0=0;MQRankSum=-1.203;QD=6.82;ReadPosRankSum=0.573;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OSBPL10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000396556 GT:AD:DP:GQ:PL 0/1:6,3:9:91.36:91,0,207
3 31744112 rs41285085 C T 145.18 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.495;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.198;QD=20.74;ReadPosRankSum=-0.922;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OSBPL10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000396556 GT:AD:DP:GQ:PL 0/1:2,5:7:62.22:175,0,62
3 31789284 rs2290531 T C 719.03 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=39.95;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OSBPL10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467955 GT:AD:DP:GQ:PL 1/1:0,18:18:54.18:752,54,0
3 31789582 rs2290532 T C 443.84 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.2;MQ0=0;QD=34.14;SNPEFF_AMINO_ACID_CHANGE=N190D;SNPEFF_CODON_CHANGE=Aac/Gac;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_31789402_31789612;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OSBPL10;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000438237 GT:AD:DP:GQ:PL 1/1:0,13:13:39.11:477,39,0
3 31839097 rs7628972 C T 293.21 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.65;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OSBPL10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000396556 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:326,24,0
3 31839135 rs7653447 A G 433.85 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.12;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OSBPL10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000396556 GT:AD:DP:GQ:PL 1/1:0,16:16:42.11:467,42,0
3 31839242 rs7643025 T C 1056 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.17;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OSBPL10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000396556 GT:AD:DP:GQ:PL 1/1:0,35:35:87.26:1089,87,0
3 32188006 rs9839702 G A 213.56 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.281;DB;DP=13;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.101;QD=16.43;ReadPosRankSum=0.377;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPD1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282541 GT:AD:DP:GQ:PL 0/1:6,7:13:99:244,0,212
3 32200322 rs2305361 T C 160.11 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=2.074;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.811;QD=12.32;ReadPosRankSum=-1.2;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPD1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282541 GT:AD:DP:GQ:PL 0/1:7,6:13:99:190,0,218
3 32232582 rs58009329 C T 1085.14 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=1.173;DB;DP=83;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.79;MQ0=0;MQRankSum=1.736;QD=13.07;ReadPosRankSum=-1.184;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=AC097639.8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443010 GT:AD:DP:GQ:PL 0/1:43,37:83:99:1115,0,1136
3 32232782 rs60078861 G T 905.49 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=0.452;DB;DP=85;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.07;MQ0=0;MQRankSum=0.076;QD=10.65;ReadPosRankSum=0.066;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=AC097639.8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443010 GT:AD:DP:GQ:PL 0/1:51,34:85:99:935,0,1278
3 32233185 rs113280784 TA T 611.74 PASS AC=2;AF=1.00;AN=2;DB;DP=42;FS=0.0;HRun=13;HaplotypeScore=173.2288;IndelType=D;MQ=61.28;MQ0=0;QD=14.57;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=AC097639.8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443010 GT:AD:DP:GQ:PL 1/1:8,31:42:93.82:654,94,0
3 32301106 rs4245883 C T 594.52 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.61;DB;DP=35;Dels=0.0;FS=12.689;HRun=0;HaplotypeScore=0.0;MQ=59.19;MQ0=0;MQRankSum=-0.724;QD=16.99;ReadPosRankSum=-0.488;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CMTM8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307526 GT:AD:DP:GQ:PL 0/1:14,21:35:99:625,0,429
3 32301217 rs4245884 A C 1356.49 PASS AB=0.378;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.777;DB;DP=74;Dels=0.0;FS=0.942;HRun=1;HaplotypeScore=1.5449;MQ=60.0;MQ0=0;MQRankSum=0.675;QD=18.33;ReadPosRankSum=1.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CMTM8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307526 GT:AD:DP:GQ:PL 0/1:28,46:74:99:1386,0,875
3 32301352 rs4627790 T C 440.97 PASS AB=0.537;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.602;DB;DP=41;Dels=0.0;FS=4.62;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=-2.194;QD=10.76;ReadPosRankSum=-0.921;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CMTM8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307526 GT:AD:DP:GQ:PL 0/1:22,19:41:99:471,0,745
3 32398761 . A G 415.63 PASS AB=0.36;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.803;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.13;MQ0=0;MQRankSum=1.55;QD=16.63;ReadPosRankSum=-0.775;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CMTM8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307526 GT:AD:DP:GQ:PL 0/1:9,16:25:99:446,0,309
3 32399181 rs2289244 G A 201.77 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.63;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CMTM8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307526 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:235,18,0
3 32411292 rs17029319 G A 226.02 PASS AB=0.591;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.534;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.5781;MQ=60.0;MQ0=0;MQRankSum=-1.135;QD=10.27;ReadPosRankSum=-1.068;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CMTM8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307526 GT:AD:DP:GQ:PL 0/1:13,9:22:99:256,0,450
3 32510017 rs441171 G A 822.14 PASS AB=0.575;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.035;DB;DP=73;Dels=0.0;FS=2.695;HRun=0;HaplotypeScore=0.0;MQ=59.68;MQ0=0;MQRankSum=-0.023;QD=11.26;ReadPosRankSum=-0.842;SNPEFF_EFFECT=INTRAGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CMTM7;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 0/1:42,31:73:99:852,0,1396
3 32525732 rs445837 A T 144.13 PASS AB=0.3;AC=1;AF=0.50;AN=2;BaseQRankSum=0.296;DB;DP=10;Dels=0.0;FS=0.0;HRun=7;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.58;QD=14.41;ReadPosRankSum=0.731;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CMTM6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000495177 GT:AD:DP:GQ:PL 0/1:3,7:10:92.83:174,0,93
3 32571823 rs35467710 G GA 103.55 PASS AB=0.814;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.225;DB;DP=35;FS=2.027;HRun=17;HaplotypeScore=238.6641;IndelType=I;MQ=55.55;MQ0=0;MQRankSum=-0.865;QD=2.96;ReadPosRankSum=0.715;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DYNC1LI1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273130 GT:AD:DP:GQ:PL 0/1:23,8:35:24.74:143,0,25
3 32587603 rs342732 T C 90.21 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DYNC1LI1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273130 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:122,9,0
3 32746522 rs7429569 A G 468.20 PASS AB=0.516;AC=1;AF=0.50;AN=2;BaseQRankSum=3.696;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.415;QD=15.1;ReadPosRankSum=0.85;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNOT10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328834 GT:AD:DP:GQ:PL 0/1:16,15:31:99:498,0,549
3 32757861 rs115116954 A G 413.95 PASS AB=0.407;AC=1;AF=0.50;AN=2;BaseQRankSum=1.609;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.778;QD=15.33;ReadPosRankSum=-0.259;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNOT10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485136 GT:AD:DP:GQ:PL 0/1:11,16:27:99:444,0,383
3 32758763 rs11129531 G A 812.70 PASS AB=0.391;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.614;DB;DP=46;Dels=0.0;FS=1.584;HRun=0;HaplotypeScore=0.0;MQ=59.59;MQ0=0;MQRankSum=-0.127;QD=17.67;ReadPosRankSum=-0.568;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNOT10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485136 GT:AD:DP:GQ:PL 0/1:18,28:46:99:843,0,591
3 32761481 rs13092303 A G 715.95 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.68;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNOT10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000494439 GT:AD:DP:GQ:PL 1/1:0,19:19:57.17:749,57,0
3 32766905 rs6550155 A G 634.61 PASS AB=0.547;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.742;DB;DP=53;Dels=0.0;FS=1.455;HRun=0;HaplotypeScore=2.7059;MQ=59.56;MQ0=0;MQRankSum=-0.884;QD=11.97;ReadPosRankSum=0.384;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNOT10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328834 GT:AD:DP:GQ:PL 0/1:29,24:53:99:665,0,1028
3 32774754 rs9799359 T C 51.57 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.406;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=8.59;ReadPosRankSum=0.406;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNOT10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328834 GT:AD:DP:GQ:PL 0/1:3,3:6:81.56:82,0,106
3 32774782 rs9798936 A G 281.36 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNOT10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328834 GT:AD:DP:GQ:PL 1/1:0,9:9:24.07:314,24,0
3 32801173 rs9832822 A G 537.28 PASS AB=0.472;AC=1;AF=0.50;AN=2;BaseQRankSum=3.251;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9947;MQ=59.36;MQ0=0;MQRankSum=0.149;QD=14.92;ReadPosRankSum=-0.908;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNOT10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328834 GT:AD:DP:GQ:PL 0/1:17,19:36:99:567,0,587
3 32815231 rs2396631 A T 85.77 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.44;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNOT10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331889 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:118,9,0
3 32915097 rs62251955 T G 186.57 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.52;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=16.96;ReadPosRankSum=1.769;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRIM71;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000383763 GT:AD:DP:GQ:PL 0/1:4,7:11:99:217,0,134
3 32915214 rs6799979 C G 3837.56 PASS AC=2;AF=1.00;AN=2;DB;DP=111;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;QD=34.57;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRIM71;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000383763 GT:AD:DP:GQ:PL 1/1:0,111:111:99:3838,304,0
3 32927509 rs6774703 G T 916.71 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.67;SNPEFF_AMINO_ACID_CHANGE=T368;SNPEFF_CODON_CHANGE=acG/acT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_32927426_32927560;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRIM71;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000383763 GT:AD:DP:GQ:PL 1/1:0,25:25:69.23:950,69,0
3 32933344 rs10630076 G GTC 734.01 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.25;DB;DP=40;FS=0.0;HRun=0;HaplotypeScore=206.3377;IndelType=I;MQ=56.45;MQ0=0;MQRankSum=-2.053;QD=18.35;ReadPosRankSum=-0.351;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRIM71;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000383763 GT:AD:DP:GQ:PL 1/1:25,14:40:25.25:776,25,0
3 33055721 rs4302331 A G 949.44 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.16;SNPEFF_AMINO_ACID_CHANGE=C390R;SNPEFF_CODON_CHANGE=Tgc/Cgc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_33055548_33055802;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GLB1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000307377 GT:AD:DP:GQ:PL 1/1:0,27:27:75.23:982,75,0
3 33059732 rs4371463 T C 34.30 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=51.77;MQ0=0;MQRankSum=0.736;QD=11.43;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GLB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473477 GT:AD:DP:GQ:PL 0/1:1,2:3:24.41:64,0,24
3 33063050 rs13093698 A G 329.93 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.278;DB;DP=26;Dels=0.0;FS=4.925;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.027;QD=12.69;ReadPosRankSum=-0.408;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GLB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000482097 GT:AD:DP:GQ:PL 0/1:13,13:26:99:360,0,440
3 33087914 rs34173901 G C 105.39 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.731;QD=21.08;ReadPosRankSum=0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GLB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307363 GT:AD:DP:GQ:PL 0/1:1,4:5:26.71:135,0,27
3 33093190 rs12632196 T C 577 PASS AB=0.459;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.686;DB;DP=37;Dels=0.0;FS=4.077;HRun=2;HaplotypeScore=0.9983;MQ=58.74;MQ0=0;MQRankSum=-0.076;QD=15.59;ReadPosRankSum=-1.326;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GLB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000438227 GT:AD:DP:GQ:PL 0/1:17,20:37:99:607,0,590
3 33093681 rs77890945 G C 65.25 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=16.31;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GLB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307363 GT:AD:DP:GQ:PL 0/1:1,3:4:30.20:95,0,30
3 33099880 rs7637435 T C 144.26 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.85;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GLB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464355 GT:AD:DP:GQ:PL 1/1:0,5:5:15.04:177,15,0
3 33110190 rs11129543 G T 518.84 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.59;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GLB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000436768 GT:AD:DP:GQ:PL 1/1:0,15:15:42.12:552,42,0
3 33110656 rs7610916 T C 106.46 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.29;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GLB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307363 GT:AD:DP:GQ:PL 1/1:0,5:5:12.03:139,12,0
3 33138544 rs7614776 A G 751.45 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.16;SNPEFF_AMINO_ACID_CHANGE=L12;SNPEFF_CODON_CHANGE=Ttg/Ctg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_33138503_33138722;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GLB1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000307363 GT:AD:DP:GQ:PL 1/1:0,22:22:57.19:784,57,0
3 33138549 rs7637099 G A 685.88 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.18;SNPEFF_AMINO_ACID_CHANGE=P10L;SNPEFF_CODON_CHANGE=cCt/cTt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_33138503_33138722;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GLB1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000307363 GT:AD:DP:GQ:PL 1/1:0,22:22:57.17:719,57,0
3 33156196 rs7611841 T C 119.88 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.97;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRTAP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000320954 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:152,12,0
3 33171659 rs4392367 A G 134.02 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.8;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRTAP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000320954 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:167,12,0
3 33174156 rs1135127 T G 1162.72 PASS AB=0.57;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.579;DB;DP=100;Dels=0.0;FS=1.945;HRun=0;HaplotypeScore=1.5253;MQ=60.0;MQ0=0;MQRankSum=0.577;QD=11.63;ReadPosRankSum=-0.471;SNPEFF_AMINO_ACID_CHANGE=T301;SNPEFF_CODON_CHANGE=acT/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_33174047_33174192;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRTAP;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000449224 GT:AD:DP:GQ:PL 0/1:57,43:100:99:1193,0,1937
3 33174168 rs1135128 G A 1227.22 PASS AB=0.552;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.045;DB;DP=96;Dels=0.0;FS=0.909;HRun=0;HaplotypeScore=3.1324;MQ=60.0;MQ0=0;MQRankSum=0.618;QD=12.78;ReadPosRankSum=-1.24;SNPEFF_AMINO_ACID_CHANGE=S305;SNPEFF_CODON_CHANGE=tcG/tcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_33174047_33174192;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRTAP;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000449224 GT:AD:DP:GQ:PL 0/1:53,43:96:99:1257,0,1692
3 33175793 rs4234239 C A 754.84 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.05;MQ0=0;QD=31.45;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRTAP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485310 GT:AD:DP:GQ:PL 1/1:0,24:24:57.19:788,57,0
3 33175854 rs58617854 A G 134.34 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.676;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.676;QD=13.43;ReadPosRankSum=-1.098;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRTAP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485310 GT:AD:DP:GQ:PL 0/1:5,5:10:99:164,0,178
3 33194138 rs6773595 T C 747.13 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=56.62;MQ0=0;QD=35.58;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SUSD5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309558 GT:AD:DP:GQ:PL 1/1:0,21:21:60.19:780,60,0
3 33194150 rs6809162 C T 293.17 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.954;DB;DP=21;Dels=0.0;FS=3.197;HRun=0;HaplotypeScore=0.0;MQ=56.62;MQ0=0;MQRankSum=0.604;QD=13.96;ReadPosRankSum=0.391;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SUSD5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309558 GT:AD:DP:GQ:PL 0/1:9,12:21:99:323,0,305
3 33194990 rs6810039 C A 1650.53 PASS AB=0.565;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.838;DB;DP=147;Dels=0.0;FS=2.139;HRun=0;HaplotypeScore=0.8667;MQ=59.84;MQ0=0;MQRankSum=-0.553;QD=11.23;ReadPosRankSum=0.272;SNPEFF_AMINO_ACID_CHANGE=E378D;SNPEFF_CODON_CHANGE=gaG/gaT;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_33191537_33195525;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SUSD5;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000309558 GT:AD:DP:GQ:PL 0/1:83,64:147:99:1681,0,2352
3 33195284 rs61743511 G A 1226.06 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=2.539;DB;DP=120;Dels=0.0;FS=0.733;HRun=0;HaplotypeScore=3.2215;MQ=58.47;MQ0=0;MQRankSum=0.844;QD=10.22;ReadPosRankSum=1.031;SNPEFF_AMINO_ACID_CHANGE=P280;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_33191537_33195525;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SUSD5;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000309558 GT:AD:DP:GQ:PL 0/1:70,50:120:99:1256,0,1999
3 33195309 rs61743461 A G 1334.24 PASS AB=0.555;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.775;DB;DP=128;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=8.7876;MQ=58.75;MQ0=0;MQRankSum=-0.643;QD=10.42;ReadPosRankSum=-0.469;SNPEFF_AMINO_ACID_CHANGE=L272S;SNPEFF_CODON_CHANGE=tTg/tCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_33191537_33195525;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SUSD5;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000309558 GT:AD:DP:GQ:PL 0/1:71,57:128:99:1364,0,2069
3 33216350 rs4257493 G A 407.29 PASS AB=0.588;AC=1;AF=0.50;AN=2;BaseQRankSum=1.977;DB;DP=34;Dels=0.0;FS=5.305;HRun=2;HaplotypeScore=0.0;MQ=59.32;MQ0=0;MQRankSum=-0.857;QD=11.98;ReadPosRankSum=1.697;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SUSD5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309558 GT:AD:DP:GQ:PL 0/1:20,14:34:99:437,0,607
3 33216357 rs57072412 G A 637.23 PASS AB=0.378;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.673;DB;DP=37;Dels=0.0;FS=5.403;HRun=0;HaplotypeScore=0.0;MQ=59.38;MQ0=0;MQRankSum=-0.705;QD=17.22;ReadPosRankSum=-1.989;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SUSD5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309558 GT:AD:DP:GQ:PL 0/1:14,23:37:99:667,0,456
3 33255592 rs9637517 A G 1697.20 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;QD=36.11;SNPEFF_AMINO_ACID_CHANGE=F40L;SNPEFF_CODON_CHANGE=Ttc/Ctc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_33255420_33255597;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SUSD5;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000309558 GT:AD:DP:GQ:PL 1/1:0,47:47:99:1730,126,0
3 33414468 rs4678933 G C 115.63 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.368;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.922;QD=14.45;ReadPosRankSum=-0.922;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FBXL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000446237 GT:AD:DP:GQ:PL 0/1:4,4:8:99:146,0,130
3 33414923 rs2291898 G A 835.20 PASS AB=0.49;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.349;DB;DP=51;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.688;QD=16.38;ReadPosRankSum=0.744;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FBXL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000425973 GT:AD:DP:GQ:PL 0/1:25,26:51:99:865,0,857
3 33419422 rs2291897 C T 37.36 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=7.47;ReadPosRankSum=0.358;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FBXL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000425973 GT:AD:DP:GQ:PL 0/1:3,2:5:67.36:67,0,112
3 33426883 rs17030546 C G 608.93 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.894;DB;DP=49;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9578;MQ=60.0;MQ0=0;MQRankSum=-0.852;QD=12.43;ReadPosRankSum=-0.104;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283628 GT:AD:DP:GQ:PL 0/1:28,21:49:99:639,0,969
3 33434831 rs2293250 G A 930.98 PASS AB=0.453;AC=1;AF=0.50;AN=2;BaseQRankSum=3.047;DB;DP=53;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.5741;MQ=59.13;MQ0=0;MQRankSum=0.384;QD=17.57;ReadPosRankSum=0.545;SNPEFF_AMINO_ACID_CHANGE=T466;SNPEFF_CODON_CHANGE=acC/acT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_33434804_33434946;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBP1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000447368 GT:AD:DP:GQ:PL 0/1:24,29:53:99:961,0,684
3 33437544 rs3817476 T C 534.15 PASS AB=0.457;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.018;DB;DP=35;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.328;QD=15.26;ReadPosRankSum=-0.293;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000411650 GT:AD:DP:GQ:PL 0/1:16,19:35:99:564,0,561
3 33441645 rs115546563 A G 153.18 PASS AB=0.55;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.127;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.595;QD=7.66;ReadPosRankSum=-0.912;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467613 GT:AD:DP:GQ:PL 0/1:11,9:20:99:183,0,335
3 33444286 rs623244 T G 40.54 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.21;MQ0=0;MQRankSum=1.231;QD=8.11;ReadPosRankSum=-0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283628 GT:AD:DP:GQ:PL 0/1:2,3:5:55.93:71,0,56
3 33454073 rs35702863 CA C 120.95 PASS AB=0.712;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.027;DB;DP=42;FS=0.0;HRun=16;HaplotypeScore=322.7746;IndelType=D;MQ=53.61;MQ0=0;MQRankSum=1.783;QD=2.88;ReadPosRankSum=0.342;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456378 GT:AD:DP:GQ:PL 0/1:21,14:42:99:160,0,276
3 33454342 rs2272152 G A 1900.12 PASS AB=0.474;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.56;DB;DP=115;Dels=0.0;FS=0.799;HRun=1;HaplotypeScore=3.2161;MQ=60.0;MQ0=0;MQRankSum=1.422;QD=16.52;ReadPosRankSum=-1.637;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000496310 GT:AD:DP:GQ:PL 0/1:54,60:115:99:1930,0,1669
3 33458075 rs17639203 T G 159.95 PASS AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=26.66;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000496310 GT:AD:DP:GQ:PL 0/1:1,5:6:23.70:190,0,24
3 33458266 rs3736563 T C 849.73 PASS AB=0.423;AC=1;AF=0.50;AN=2;BaseQRankSum=0.12;DB;DP=52;Dels=0.0;FS=1.108;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.398;QD=16.34;ReadPosRankSum=-0.194;SNPEFF_AMINO_ACID_CHANGE=N109S;SNPEFF_CODON_CHANGE=aAt/aGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_33458250_33458326;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBP1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000283628 GT:AD:DP:GQ:PL 0/1:22,30:52:99:880,0,697
3 33481400 rs2272153 G C 261.82 PASS AB=0.412;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.439;DB;DP=17;Dels=0.0;FS=3.14;HRun=0;HaplotypeScore=0.0;MQ=58.63;MQ0=0;MQRankSum=0.049;QD=15.4;ReadPosRankSum=-0.634;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456378 GT:AD:DP:GQ:PL 0/1:7,10:17:99:292,0,233
3 33539893 rs13954 A G 32.80 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=10.93;ReadPosRankSum=-0.736;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CLASP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464961 GT:AD:DP:GQ:PL 0/1:1,2:3:33.62:63,0,34
3 33540329 rs6782108 T C 136.02 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.412;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=2.298;QD=8.5;ReadPosRankSum=0.766;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CLASP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307312 GT:AD:DP:GQ:PL 0/1:9,6:16:99:166,0,336
3 33551821 rs2049282 G T 42.86 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=14.29;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CLASP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307312 GT:AD:DP:GQ:PL 0/1:1,2:3:32.20:73,0,32
3 33552004 rs2049281 T C 959.73 PASS AB=0.446;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.181;DB;DP=56;Dels=0.0;FS=7.93;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.61;QD=17.14;ReadPosRankSum=-1.137;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CLASP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307312 GT:AD:DP:GQ:PL 0/1:25,31:56:99:990,0,795
3 33552351 rs6767854 A T 144.87 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=1.307;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.876;QD=16.1;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CLASP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307312 GT:AD:DP:GQ:PL 0/1:4,5:9:99:175,0,139
3 33558359 rs1357542 C A 324.34 PASS AB=0.577;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.166;DB;DP=26;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=12.47;ReadPosRankSum=0.623;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CLASP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307312 GT:AD:DP:GQ:PL 0/1:15,11:26:99:354,0,551
3 33558407 rs1357541 T C 1093.62 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=1.717;DB;DP=65;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=1.059;QD=16.82;ReadPosRankSum=-1.112;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CLASP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307312 GT:AD:DP:GQ:PL 0/1:30,35:65:99:1124,0,1026
3 33558808 rs7635999 T C 96.59 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=0.361;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.876;QD=10.73;ReadPosRankSum=-0.361;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CLASP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307312 GT:AD:DP:GQ:PL 0/1:5,4:9:99:127,0,138
3 33577113 rs116780251 C T 388.28 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.609;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.077;QD=21.57;ReadPosRankSum=1.171;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CLASP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307312 GT:AD:DP:GQ:PL 0/1:6,12:18:99:418,0,187
3 33577125 rs3772106 C T 88.50 PASS AB=0.733;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.326;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.196;QD=5.9;ReadPosRankSum=0.718;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CLASP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307312 GT:AD:DP:GQ:PL 0/1:11,4:15:99:118,0,402
3 33592572 rs12487660 T G 58.13 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.754;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.55;QD=8.3;ReadPosRankSum=-1.754;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CLASP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307312 GT:AD:DP:GQ:PL 0/1:4,3:7:88.13:88,0,145
3 33592978 rs34937822 A AT 321.04 PASS AB=0.741;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.075;DB;DP=40;FS=0.0;HRun=11;HaplotypeScore=128.3311;IndelType=I;MQ=59.39;MQ0=0;MQRankSum=0.85;QD=8.03;ReadPosRankSum=-0.138;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CLASP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307312 GT:AD:DP:GQ:PL 0/1:25,13:40:99:360,0,262
3 33602123 rs35779416 C T 321.89 PASS AB=0.231;AC=1;AF=0.50;AN=2;BaseQRankSum=0.592;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.93;QD=24.76;ReadPosRankSum=-0.254;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CLASP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307312 GT:AD:DP:GQ:PL 0/1:3,10:13:78.52:352,0,79
3 33612364 rs67476972 TA T 140.92 PASS AC=2;AF=1.00;AN=2;DB;DP=22;FS=0.0;HRun=16;HaplotypeScore=213.5742;IndelType=D;MQ=52.99;MQ0=0;QD=6.41;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CLASP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475576 GT:AD:DP:GQ:PL 1/1:9,9:22:34.62:183,35,0
3 33615874 rs9841413 G A 145.68 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.453;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.851;QD=14.57;ReadPosRankSum=0.103;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CLASP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307312 GT:AD:DP:GQ:PL 0/1:5,5:10:99:176,0,181
3 33617790 rs4629282 A G 1547.68 PASS AB=0.554;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.84;DB;DP=121;Dels=0.0;FS=1.775;HRun=0;HaplotypeScore=0.0;MQ=59.66;MQ0=0;MQRankSum=-0.84;QD=12.79;ReadPosRankSum=0.978;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CLASP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307312 GT:AD:DP:GQ:PL 0/1:67,54:121:99:1578,0,2106
3 33648715 rs9856967 G A 37.36 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.406;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.537;QD=6.23;ReadPosRankSum=-0.406;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CLASP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485378 GT:AD:DP:GQ:PL 0/1:3,3:6:67.36:67,0,106
3 33653622 rs6807542 T G 566.23 PASS AB=0.486;AC=1;AF=0.50;AN=2;BaseQRankSum=2.558;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.314;QD=16.18;ReadPosRankSum=-1.469;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CLASP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307312 GT:AD:DP:GQ:PL 0/1:17,18:35:99:596,0,557
3 33653803 rs6807732 T C 74.29 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.76;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CLASP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307312 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:106,9,0
3 33725727 rs7628519 G T 50.05 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.02;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CLASP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307312 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
3 33853747 rs9851801 C T 168.92 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=2.054;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=51.77;MQ0=0;MQRankSum=-0.573;QD=18.77;ReadPosRankSum=1.422;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDCD6IP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307296 GT:AD:DP:GQ:PL 0/1:3,6:9:78.14:199,0,78
3 33853764 rs150795546 GAAGA G 219.02 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=6;FS=0.0;HRun=0;HaplotypeScore=50.0237;IndelType=D;MQ=47.12;MQ0=0;MQRankSum=-0.736;QD=36.5;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDCD6IP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307296 GT:AD:DP:GQ:PL 0/1:1,5:6:61.24:258,0,61
3 33863369 rs72619958 C T 62.08 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.684;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.322;QD=7.76;ReadPosRankSum=0.322;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDCD6IP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307296 GT:AD:DP:GQ:PL 0/1:5,3:8:92.08:92,0,165
3 33863683 rs3762817 A T 122.42 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.977;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.529;QD=10.2;ReadPosRankSum=0.244;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDCD6IP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000430877 GT:AD:DP:GQ:PL 0/1:7,5:12:99:152,0,252
3 33863705 rs3762816 G C 75.42 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.406;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9997;MQ=60.0;MQ0=0;MQRankSum=-1.537;QD=10.77;ReadPosRankSum=-0.988;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDCD6IP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000430877 GT:AD:DP:GQ:PL 0/1:3,3:7:99:105,0,107
3 33863723 rs3762815 A G 32.50 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.82;MQ0=0;MQRankSum=0.0;QD=5.42;ReadPosRankSum=0.72;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDCD6IP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000430877 GT:AD:DP:GQ:PL 0/1:4,2:6:62.49:62,0,142
3 33866868 rs12488699 A G 686.04 PASS AB=0.395;AC=1;AF=0.50;AN=2;BaseQRankSum=1.614;DB;DP=43;Dels=0.0;FS=1.726;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.076;QD=15.95;ReadPosRankSum=0.82;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDCD6IP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000413073 GT:AD:DP:GQ:PL 0/1:17,26:43:99:716,0,507
3 33866929 rs12495243 G T 290.56 PASS AB=0.474;AC=1;AF=0.50;AN=2;BaseQRankSum=0.449;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.7887;MQ=59.01;MQ0=0;MQRankSum=0.531;QD=15.29;ReadPosRankSum=0.122;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDCD6IP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000413073 GT:AD:DP:GQ:PL 0/1:9,10:19:99:321,0,319
3 33867797 rs1544036 A G 67.88 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.63;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDCD6IP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000413073 GT:AD:DP:GQ:PL 1/1:0,3:3:9.02:100,9,0
3 33877508 rs3792595 T A 404.99 PASS AB=0.484;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.075;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=5.5113;MQ=59.25;MQ0=0;MQRankSum=-0.178;QD=13.06;ReadPosRankSum=0.02;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDCD6IP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307296 GT:AD:DP:GQ:PL 0/1:15,16:31:99:435,0,453
3 33877626 rs3792594 G A 1646.15 PASS AB=0.558;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.077;DB;DP=129;Dels=0.0;FS=1.409;HRun=0;HaplotypeScore=1.4725;MQ=59.82;MQ0=0;MQRankSum=2.16;QD=12.76;ReadPosRankSum=0.567;SNPEFF_AMINO_ACID_CHANGE=A309T;SNPEFF_CODON_CHANGE=Gct/Act;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_33877536_33877758;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDCD6IP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000307296 GT:AD:DP:GQ:PL 0/1:72,57:129:99:1676,0,2188
3 33879498 rs9832035 G A 83.20 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=20.8;ReadPosRankSum=-0.727;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDCD6IP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000482561 GT:AD:DP:GQ:PL 0/1:1,3:4:22.31:113,0,22
3 33879602 rs140931811 CTA C 191.63 PASS AB=0.727;AC=1;AF=0.50;AN=2;BaseQRankSum=2.652;DB;DP=16;FS=0.0;HRun=0;HaplotypeScore=75.4245;IndelType=D;MQ=52.85;MQ0=0;MQRankSum=1.945;QD=11.98;ReadPosRankSum=1.237;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDCD6IP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000482561 GT:AD:DP:GQ:PL 0/1:10,6:16:99:231,0,477
3 33887102 rs11928792 A G 479.67 PASS AB=0.486;AC=1;AF=0.50;AN=2;BaseQRankSum=1.742;DB;DP=35;Dels=0.0;FS=1.624;HRun=2;HaplotypeScore=0.0;MQ=58.23;MQ0=0;MQRankSum=-3.882;QD=13.7;ReadPosRankSum=-0.259;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDCD6IP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000412887 GT:AD:DP:GQ:PL 0/1:17,18:35:99:510,0,485
3 33887178 rs11928817 A T 38.09 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.536;DB;DP=12;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=59.51;MQ0=0;MQRankSum=-0.536;QD=3.17;ReadPosRankSum=0.929;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDCD6IP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000412887 GT:AD:DP:GQ:PL 0/1:8,4:12:68.08:68,0,297
3 33895391 rs3183982 A G 134.24 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.905;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=57.25;MQ0=0;MQRankSum=-3.163;QD=9.59;ReadPosRankSum=-0.968;SNPEFF_AMINO_ACID_CHANGE=S637;SNPEFF_CODON_CHANGE=tcA/tcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_33895371_33895505;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDCD6IP;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000307296 GT:AD:DP:GQ:PL 0/1:8,6:14:99:164,0,284
3 33905471 rs11922311 A G 755.76 PASS AB=0.432;AC=1;AF=0.50;AN=2;BaseQRankSum=4.146;DB;DP=44;Dels=0.0;FS=5.22;HRun=0;HaplotypeScore=0.0;MQ=58.95;MQ0=0;MQRankSum=0.687;QD=17.18;ReadPosRankSum=1.303;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDCD6IP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307296 GT:AD:DP:GQ:PL 0/1:19,25:44:99:786,0,534
3 33905566 rs1127732 C T 710.60 PASS AB=0.39;AC=1;AF=0.50;AN=2;BaseQRankSum=2.686;DB;DP=41;Dels=0.0;FS=5.71;HRun=1;HaplotypeScore=0.9997;MQ=58.87;MQ0=0;MQRankSum=-1.029;QD=17.33;ReadPosRankSum=-0.361;SNPEFF_AMINO_ACID_CHANGE=S730L;SNPEFF_CODON_CHANGE=tCa/tTa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_33905498_33905621;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDCD6IP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000307296 GT:AD:DP:GQ:PL 0/1:16,25:41:99:741,0,414
3 33907835 rs5847794 T TCTCC 1921.24 PASS AB=0.672;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.707;DB;DP=45;FS=0.0;HRun=0;HaplotypeScore=154.3712;IndelType=I;MQ=55.21;MQ0=0;MQRankSum=-1.006;QD=42.69;ReadPosRankSum=-0.137;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDCD6IP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465122 GT:AD:DP:GQ:PL 0/1:23,22:45:99:1960,0,856
3 33907945 rs3183987 A G 783.23 PASS AB=0.537;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.653;DB;DP=67;Dels=0.0;FS=0.95;HRun=0;HaplotypeScore=2.713;MQ=58.96;MQ0=0;MQRankSum=-0.874;QD=11.69;ReadPosRankSum=0.069;SNPEFF_AMINO_ACID_CHANGE=P845;SNPEFF_CODON_CHANGE=ccA/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_33907843_33911194;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDCD6IP;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000307296 GT:AD:DP:GQ:PL 0/1:36,31:67:99:813,0,1140
3 35725250 rs969818 C T 1346.58 PASS AB=0.342;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.028;DB;DP=73;Dels=0.0;FS=2.597;HRun=0;HaplotypeScore=0.0;MQ=59.68;MQ0=0;MQRankSum=-0.427;QD=18.45;ReadPosRankSum=-0.776;SNPEFF_AMINO_ACID_CHANGE=S68;SNPEFF_CODON_CHANGE=agC/agT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_35725218_35725307;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARPP21;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000187397 GT:AD:DP:GQ:PL 0/1:25,48:73:99:1377,0,756
3 35730712 rs78806399 G C 227.57 PASS AB=0.385;AC=1;AF=0.50;AN=2;BaseQRankSum=0.533;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.212;QD=17.51;ReadPosRankSum=1.256;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARPP21;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000396481 GT:AD:DP:GQ:PL 0/1:5,8:13:99:258,0,162
3 35731725 rs1513476 C T 437.80 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.48;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARPP21;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000396482 GT:AD:DP:GQ:PL 1/1:0,12:12:36.11:471,36,0
3 35756778 rs2305233 A T 299.64 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.945;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.53;QD=19.98;ReadPosRankSum=0.53;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARPP21;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000187397 GT:AD:DP:GQ:PL 0/1:6,9:15:99:330,0,204
3 35778773 rs2278757 A G 365.62 PASS AB=0.529;AC=1;AF=0.50;AN=2;BaseQRankSum=0.085;DB;DP=51;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=55.8;MQ0=0;MQRankSum=-1.373;QD=7.17;ReadPosRankSum=-0.838;SNPEFF_AMINO_ACID_CHANGE=P467;SNPEFF_CODON_CHANGE=ccA/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_35778670_35778854;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARPP21;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000337271 GT:AD:DP:GQ:PL 0/1:27,24:51:99:396,0,697
3 35779750 rs2012153 A G 1994.40 PASS AB=0.424;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.565;DB;DP=132;Dels=0.0;FS=2.335;HRun=1;HaplotypeScore=4.4846;MQ=59.65;MQ0=0;MQRankSum=-0.35;QD=15.0;ReadPosRankSum=-0.602;SNPEFF_AMINO_ACID_CHANGE=P509;SNPEFF_CODON_CHANGE=ccA/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_35779706_35779810;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARPP21;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000337271 GT:AD:DP:GQ:PL 0/1:56,76:132:99:2024,0,1749
3 35780640 rs35499003 T C 323.65 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=2.159;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.17;MQ0=0;MQRankSum=0.07;QD=11.56;ReadPosRankSum=-1.277;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARPP21;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000187397 GT:AD:DP:GQ:PL 0/1:16,12:28:99:354,0,554
3 35780735 rs35497369 T C 1724.29 PASS AB=0.473;AC=1;AF=0.50;AN=2;BaseQRankSum=3.923;DB;DP=112;Dels=0.01;FS=0.914;HRun=0;HaplotypeScore=1.7552;MQ=59.39;MQ0=0;MQRankSum=0.717;QD=15.26;ReadPosRankSum=-0.505;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARPP21;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000187397 GT:AD:DP:GQ:PL 0/1:53,59:112:99:1754,0,1683
3 35785296 rs6550367 T C 919.77 PASS AB=0.426;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.05;DB;DP=68;Dels=0.0;FS=1.412;HRun=0;HaplotypeScore=1.612;MQ=60.0;MQ0=0;MQRankSum=-0.397;QD=13.53;ReadPosRankSum=-2.207;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARPP21;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000187397 GT:AD:DP:GQ:PL 0/1:29,39:68:99:950,0,914
3 36484746 rs9865125 G T 52.28 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STAC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273183 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
3 36527872 rs11926471 A G 336.33 PASS AB=0.083;AC=1;AF=0.50;AN=2;BaseQRankSum=0.869;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=58.05;MQ0=0;MQRankSum=-1.159;QD=28.03;ReadPosRankSum=-0.29;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STAC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273183 GT:AD:DP:GQ:PL 0/1:1,11:12:8.12:366,0,8
3 36869879 . A AGAAG 1572.82 PASS AB=0.744;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.758;DP=64;FS=4.449;HRun=0;HaplotypeScore=230.2411;IndelType=I;MQ=60.91;MQ0=0;MQRankSum=2.445;QD=24.58;ReadPosRankSum=0.132;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRANK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000301807 GT:AD:DP:GQ:PL 0/1:42,22:64:99:1612,0,559
3 36872224 rs3732384 T C 37.95 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.358;QD=7.59;ReadPosRankSum=1.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRANK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000301807 GT:AD:DP:GQ:PL 0/1:3,2:5:67.94:68,0,108
3 36876154 rs3796186 C T 577.95 PASS AB=0.55;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.258;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.585;QD=14.45;ReadPosRankSum=-1.319;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRANK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000301807 GT:AD:DP:GQ:PL 0/1:22,18:40:99:608,0,766
3 36880684 rs4431050 A G 47.98 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.99;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRANK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463984 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
3 36887973 rs4678910 C G 347.43 PASS AB=0.593;AC=1;AF=0.50;AN=2;BaseQRankSum=0.716;DB;DP=27;Dels=0.0;FS=3.9;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.913;QD=12.87;ReadPosRankSum=-1.061;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRANK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000301807 GT:AD:DP:GQ:PL 0/1:16,11:27:99:377,0,573
3 36888064 rs4678911 G T 109.11 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=18.19;ReadPosRankSum=-1.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRANK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000301807 GT:AD:DP:GQ:PL 0/1:2,4:6:66.35:139,0,66
3 36893965 rs17195098 C T 111.39 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.017;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.421;QD=13.92;ReadPosRankSum=1.368;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRANK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000301807 GT:AD:DP:GQ:PL 0/1:4,4:8:70.02:141,0,70
3 36896653 rs9818599 G C 1508.57 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.48;MQ0=0;QD=34.29;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRANK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000301807 GT:AD:DP:GQ:PL 1/1:0,44:44:99:1542,114,0
3 36898381 rs41511748 G A 1698.49 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.608;DB;DP=106;Dels=0.0;FS=3.07;HRun=1;HaplotypeScore=1.9445;MQ=59.39;MQ0=0;MQRankSum=0.01;QD=16.02;ReadPosRankSum=0.146;SNPEFF_AMINO_ACID_CHANGE=I350;SNPEFF_CODON_CHANGE=atC/atT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_36896664_36899540;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRANK1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000301807 GT:AD:DP:GQ:PL 0/1:53,53:106:99:1728,0,1587
3 36915814 rs4296548 T G 615.17 PASS AB=0.489;AC=1;AF=0.50;AN=2;BaseQRankSum=1.33;DB;DP=47;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.737;QD=13.09;ReadPosRankSum=-1.418;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRANK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000301807 GT:AD:DP:GQ:PL 0/1:23,24:47:99:645,0,757
3 37048633 rs4234259 A G 1280.53 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.8;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MLH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000231790 GT:AD:DP:GQ:PL 1/1:0,33:33:96.32:1314,96,0
3 37053568 rs1799977 A G 1472.49 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.92;MQ0=0;QD=34.24;SNPEFF_AMINO_ACID_CHANGE=I121V;SNPEFF_CODON_CHANGE=Atc/Gtc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_37053502_37053590;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MLH1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000435176 GT:AD:DP:GQ:PL 1/1:0,43:43:99:1505,114,0
3 37058509 rs4647277 A G 389.04 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=41.19;MQ0=0;QD=32.42;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MLH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000432299 GT:AD:DP:GQ:PL 1/1:0,12:12:33.09:422,33,0
3 37062040 rs2286939 T C 208.87 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.84;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MLH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000441265 GT:AD:DP:GQ:PL 1/1:0,7:7:18.06:242,18,0
3 37070106 rs2286940 C T 334.53 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.17;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MLH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000231790 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:368,27,0
3 37083740 rs9876116 A G 1078.77 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.38;MQ0=0;QD=29.16;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MLH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000231790 GT:AD:DP:GQ:PL 1/1:0,37:37:93.26:1112,93,0
3 37090274 rs2241031 C T 480.96 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRFIP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336686 GT:AD:DP:GQ:PL 1/1:0,13:13:39.12:514,39,0
3 37096109 rs113420512 T TAAC 1223.45 PASS AC=2;AF=1.00;AN=2;DB;DP=23;FS=0.0;HRun=0;HaplotypeScore=85.6353;IndelType=I;MQ=53.01;MQ0=0;QD=53.19;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MLH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000231790 GT:AD:DP:GQ:PL 1/1:4,18:23:57.19:1265,57,0
3 37097546 rs2363499 A G 2067.70 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.5592;MQ=59.63;MQ0=0;QD=32.82;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRFIP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336686 GT:AD:DP:GQ:PL 1/1:0,63:63:99:2101,165,0
3 37100166 rs58404365 CAAA C 552.73 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.658;DB;DP=36;FS=0.0;HRun=16;HaplotypeScore=217.3195;IndelType=D;MQ=55.11;MQ0=0;MQRankSum=-1.397;QD=15.35;ReadPosRankSum=-0.436;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRFIP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336686 GT:AD:DP:GQ:PL 1/1:7,26:36:56.65:595,57,0
3 37107470 rs2302503 G A 1680.94 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9332;MQ=58.99;MQ0=0;QD=36.54;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MLH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000536378 GT:AD:DP:GQ:PL 1/1:0,46:46:99:1714,129,0
3 37116386 rs2302504 G T 240.42 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.05;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRFIP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000416425 GT:AD:DP:GQ:PL 1/1:0,8:8:21.07:273,21,0
3 37133124 rs2302506 A G 371.42 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRFIP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336686 GT:AD:DP:GQ:PL 1/1:0,10:10:30.10:404,30,0
3 37144535 rs2302507 C A 129.93 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.48;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRFIP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336686 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:162,12,0
3 37150988 rs6806252 C G 3187.96 PASS AC=2;AF=1.00;AN=2;DB;DP=90;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.42;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRFIP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336686 GT:AD:DP:GQ:PL 1/1:0,90:90:99:3221,238,0
3 37163039 rs336595 G A 1615 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.65;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRFIP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000438374 GT:AD:DP:GQ:PL 1/1:0,48:48:99:1648,126,0
3 37170717 rs3733030 T C 616.59 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.83;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRFIP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336686 GT:AD:DP:GQ:PL 1/1:0,20:20:57.15:650,57,0
3 37170750 rs3733029 G C 409.79 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.25;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRFIP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336686 GT:AD:DP:GQ:PL 1/1:0,11:11:33.11:443,33,0
3 37285152 rs2271548 C T 377.24 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.44;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GOLGA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356847 GT:AD:DP:GQ:PL 1/1:0,12:12:33.09:410,33,0
3 37308243 rs116634321 G A 289.78 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.985;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9979;MQ=60.0;MQ0=0;MQRankSum=0.197;QD=13.17;ReadPosRankSum=-2.561;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GOLGA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356847 GT:AD:DP:GQ:PL 0/1:11,11:22:99:320,0,363
3 37308262 rs73059487 A T 1156.20 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GOLGA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356847 GT:AD:DP:GQ:PL 1/1:0,31:31:90.26:1189,90,0
3 37308532 rs1040073 C T 519.23 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.62;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GOLGA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356847 GT:AD:DP:GQ:PL 1/1:0,15:15:45.12:552,45,0
3 37317043 rs3733028 T C 380.72 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=44.32;MQ0=2;QD=29.29;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GOLGA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356847 GT:AD:DP:GQ:PL 1/1:0,13:13:33.08:414,33,0
3 37317133 rs112836584 G T 516 MQFilter40 AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=4.437;DB;DP=55;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=26.99;MQ0=16;MQRankSum=1.085;QD=9.38;ReadPosRankSum=0.747;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GOLGA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356847 GT:AD:DP:GQ:PL 0/1:35,20:55:99:546,0,583
3 37364899 rs11721021 T G 164.69 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.94;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GOLGA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000435830 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:197,15,0
3 37366459 rs11718848 C A 2035.43 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.31;SNPEFF_AMINO_ACID_CHANGE=Q1028K;SNPEFF_CODON_CHANGE=Caa/Aaa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_37365079_37369316;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GOLGA4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000361924 GT:AD:DP:GQ:PL 1/1:0,65:65:99:2068,163,0
3 37368755 rs62241896 T A 2614.75 PASS AC=2;AF=1.00;AN=2;DB;DP=73;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.37;MQ0=0;QD=35.82;SNPEFF_AMINO_ACID_CHANGE=M1664K;SNPEFF_CODON_CHANGE=aTg/aAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_37365079_37369316;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GOLGA4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000437131 GT:AD:DP:GQ:PL 1/1:0,73:73:99:2648,193,0
3 37369724 rs5847958 G GAC 274.11 PASS AB=0.76;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.838;DB;DP=18;FS=0.0;HRun=0;HaplotypeScore=107.2066;IndelType=I;MQ=40.84;MQ0=1;MQRankSum=-1.628;QD=14.43;ReadPosRankSum=-0.473;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GOLGA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000429018 GT:AD:DP:GQ:PL 0/1:10,6:18:99:313,0,142
3 37369771 rs5847960 ACTCT A 1616.89 PASS AC=2;AF=1.00;AN=2;DB;DP=43;FS=0.0;HRun=0;HaplotypeScore=272.9781;IndelType=D;MQ=49.78;MQ0=1;QD=36.75;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GOLGA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000429018 GT:AD:DP:GQ:PL 1/1:9,34:43:99:1659,102,0
3 37376500 rs35471738 C CT 615.95 PASS AC=2;AF=1.00;AN=2;DB;DP=21;FS=0.0;HRun=8;HaplotypeScore=39.4663;IndelType=I;MQ=62.03;MQ0=0;QD=29.33;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GOLGA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356847 GT:AD:DP:GQ:PL 1/1:1,20:21:57.17:658,57,0
3 37388577 rs3832257 C CA 349.89 PASS AC=2;AF=1.00;AN=2;DB;DP=9;FS=0.0;HRun=1;HaplotypeScore=21.6433;IndelType=I;MQ=61.19;MQ0=0;QD=38.88;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GOLGA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356847 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:392,27,0
3 37407489 rs17266090 A G 1670.44 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.09;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GOLGA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356847 GT:AD:DP:GQ:PL 1/1:0,49:49:99:1703,135,0
3 37407664 rs62241901 G T 2412.08 PASS AC=2;AF=1.00;AN=2;DB;DP=71;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.97;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GOLGA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356847 GT:AD:DP:GQ:PL 1/1:1,70:71:99:2445,190,0
3 37512646 rs79749932 T C 980.41 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.5616;MQ=55.59;MQ0=0;QD=25.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGA9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264741 GT:AD:DP:GQ:PL 1/1:0,38:39:90.22:1013,90,0
3 37512647 rs11709385 G C 981.07 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.5616;MQ=55.59;MQ0=0;QD=25.16;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGA9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264741 GT:AD:DP:GQ:PL 1/1:0,39:39:93.19:1014,93,0
3 37522828 rs197757 G A 177.01 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.572;DB;DP=8;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.572;QD=22.13;ReadPosRankSum=-0.572;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGA9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264741 GT:AD:DP:GQ:PL 0/1:2,6:8:50.12:207,0,50
3 37522875 rs73055204 C T 149.51 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.79;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.163;QD=9.34;ReadPosRankSum=0.054;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGA9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264741 GT:AD:DP:GQ:PL 0/1:10,6:16:99:179,0,332
3 37523079 rs17227748 G A 1103.65 PASS AB=0.449;AC=1;AF=0.50;AN=2;BaseQRankSum=0.271;DB;DP=69;Dels=0.0;FS=0.932;HRun=0;HaplotypeScore=0.0;MQ=59.67;MQ0=0;MQRankSum=-0.826;QD=15.99;ReadPosRankSum=-0.271;SNPEFF_AMINO_ACID_CHANGE=T175;SNPEFF_CODON_CHANGE=acG/acA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_37522975_37523098;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGA9;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000264741 GT:AD:DP:GQ:PL 0/1:31,38:69:99:1134,0,831
3 37535865 rs55862442 T C 43.01 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=10.75;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGA9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264741 GT:AD:DP:GQ:PL 1/1:0,4:4:8.99:75,9,0
3 37535866 rs539108 G A 43.01 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=10.75;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGA9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264741 GT:AD:DP:GQ:PL 1/1:0,4:4:8.99:75,9,0
3 37535984 rs2507940 C G 547.24 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.2;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGA9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264741 GT:AD:DP:GQ:PL 1/1:0,16:16:45.14:580,45,0
3 37536056 rs2507941 C T 213.54 PASS AB=0.619;AC=1;AF=0.50;AN=2;BaseQRankSum=1.774;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.89;MQ0=0;MQRankSum=0.036;QD=10.17;ReadPosRankSum=1.123;SNPEFF_AMINO_ACID_CHANGE=T203;SNPEFF_CODON_CHANGE=acC/acT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_37535992_37536059;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGA9;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000264741 GT:AD:DP:GQ:PL 0/1:13,8:21:99:244,0,338
3 37549983 rs17228684 G A 251.11 PASS AB=0.385;AC=1;AF=0.50;AN=2;BaseQRankSum=1.381;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.83;MQ0=0;MQRankSum=0.978;QD=19.32;ReadPosRankSum=0.212;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGA9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264741 GT:AD:DP:GQ:PL 0/1:5,8:13:99:281,0,168
3 37560708 rs3733138 A G 39.72 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=7.94;ReadPosRankSum=0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGA9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264741 GT:AD:DP:GQ:PL 0/1:3,2:5:69.72:70,0,108
3 37574951 rs267561 G A 781.86 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.03;MQ0=0;QD=32.58;SNPEFF_AMINO_ACID_CHANGE=G507E;SNPEFF_CODON_CHANGE=gGa/gAa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_37574805_37574959;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGA9;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000264741 GT:AD:DP:GQ:PL 1/1:0,24:24:63.18:815,63,0
3 37575039 rs267560 G A 327.37 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.74;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGA9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264741 GT:AD:DP:GQ:PL 1/1:0,10:10:30.07:360,30,0
3 37583851 rs2844349 A C 496.48 PASS AB=0.441;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.601;DB;DP=34;Dels=0.0;FS=3.353;HRun=0;HaplotypeScore=0.9159;MQ=60.0;MQ0=0;MQRankSum=0.347;QD=14.6;ReadPosRankSum=-0.763;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGA9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264741 GT:AD:DP:GQ:PL 0/1:15,19:34:99:526,0,434
3 37627112 rs1155741 T C 254.37 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.05;MQ0=0;QD=31.8;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGA9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264741 GT:AD:DP:GQ:PL 1/1:0,8:8:21.07:287,21,0
3 37627149 rs1155742 G A 211.24 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=57.66;MQ0=0;QD=21.12;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGA9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264741 GT:AD:DP:GQ:PL 1/1:0,10:10:18.06:244,18,0
3 37791729 rs1402756 G A 47.79 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.89;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGA9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264741 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
3 38010708 rs7372209 T C 74.45 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.82;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CTDSPL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273179 GT:AD:DP:GQ:PL 1/1:0,3:3:9.02:106,9,0
3 38061540 rs2073399 A G 131.78 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.96;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=PLCD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473834 GT:AD:DP:GQ:PL 1/1:0,6:6:12.04:164,12,0
3 38087024 rs36046028 C T 292.80 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.003;DB;DP=28;Dels=0.0;FS=1.974;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.157;QD=10.46;ReadPosRankSum=-1.054;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=DLEC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000308059 GT:AD:DP:GQ:PL 0/1:16,12:28:99:323,0,473
3 38134438 rs11129778 A G 676.04 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.78;MQ0=0;QD=35.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=DLEC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000308059 GT:AD:DP:GQ:PL 1/1:0,19:19:54.17:709,54,0
3 38163430 . A G 157.03 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=1.92;DP=8;Dels=0.0;FS=4.26;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.322;QD=19.63;ReadPosRankSum=1.92;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACAA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000301810 GT:AD:DP:GQ:PL 0/1:3,5:8:96.18:187,0,96
3 38348686 rs753330 T G 280.40 PASS AB=0.591;AC=1;AF=0.50;AN=2;BaseQRankSum=3.272;DB;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.135;QD=12.75;ReadPosRankSum=0.134;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC22A14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273173 GT:AD:DP:GQ:PL 0/1:13,9:22:99:310,0,418
3 38348949 rs818823 G T 196.65 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.582;DB;DP=25;Dels=0.0;FS=1.603;HRun=0;HaplotypeScore=1.7608;MQ=58.49;MQ0=0;MQRankSum=0.361;QD=7.87;ReadPosRankSum=-0.139;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC22A14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273173 GT:AD:DP:GQ:PL 0/1:15,10:25:99:227,0,534
3 38349369 rs151623 G A 98.16 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.55;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.937;QD=14.02;ReadPosRankSum=0.55;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC22A14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466887 GT:AD:DP:GQ:PL 0/1:3,4:7:99:128,0,102
3 38350252 rs818820 C G 153.54 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.59;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC22A14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466887 GT:AD:DP:GQ:PL 1/1:0,6:6:15.04:186,15,0
3 38350479 rs818819 T C 3228.29 PASS AC=2;AF=1.00;AN=2;DB;DP=105;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9734;MQ=59.78;MQ0=0;QD=30.75;SNPEFF_AMINO_ACID_CHANGE=H270;SNPEFF_CODON_CHANGE=caT/caC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_38350445_38350613;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC22A14;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000273173 GT:AD:DP:GQ:PL 1/1:0,105:105:99:3261,250,0
3 38350519 rs818818 G A 2907.60 PASS AC=2;AF=1.00;AN=2;DB;DP=80;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.71;MQ0=0;QD=36.35;SNPEFF_AMINO_ACID_CHANGE=V284M;SNPEFF_CODON_CHANGE=Gtg/Atg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_38350445_38350613;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC22A14;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000273173 GT:AD:DP:GQ:PL 1/1:0,80:80:99:2941,217,0
3 38350543 rs818817 A G 2562.78 PASS AC=2;AF=1.00;AN=2;DB;DP=73;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.68;MQ0=0;QD=35.11;SNPEFF_AMINO_ACID_CHANGE=S292G;SNPEFF_CODON_CHANGE=Agt/Ggt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_38350445_38350613;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC22A14;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000273173 GT:AD:DP:GQ:PL 1/1:0,73:73:99:2596,205,0
3 38350630 rs704929 C A 985.68 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.36;MQ0=0;QD=33.99;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC22A14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466887 GT:AD:DP:GQ:PL 1/1:0,29:29:75.24:1019,75,0
3 38354967 . G A 438.65 PASS AB=0.541;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.758;DP=37;Dels=0.0;FS=6.011;HRun=1;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=-0.137;QD=11.86;ReadPosRankSum=-0.29;SNPEFF_AMINO_ACID_CHANGE=S385N;SNPEFF_CODON_CHANGE=aGc/aAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_38354879_38354976;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC22A14;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000273173 GT:AD:DP:GQ:PL 0/1:20,17:37:99:469,0,664
3 38355176 rs11268633 T TGTGTGCGTGTGCGCGC 4453.81 PASS AC=2;AF=1.00;AN=2;DB;DP=26;FS=0.0;HRun=0;HaplotypeScore=233.0087;IndelType=I;MQ=39.97;MQ0=0;QD=171.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC22A14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273173 GT:AD:DP:GQ:PL 1/1:11,12:26:75.25:4454,75,0
3 38359970 rs697333 T G 129.24 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.31;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC22A14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000448498 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:162,12,0
3 38390020 rs2615631 C A 1351.50 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=60.0;MQ0=0;QD=38.61;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XYLB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000207870 GT:AD:DP:GQ:PL 1/1:0,34:35:99:1385,102,0
3 38401677 rs818851 C T 166.04 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.16;MQ0=0;QD=33.21;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XYLB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427323 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:199,15,0
3 38401839 rs818850 T C 1241.14 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.48;SNPEFF_AMINO_ACID_CHANGE=G50;SNPEFF_CODON_CHANGE=ggT/ggC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_38401830_38401899;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XYLB;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000207870 GT:AD:DP:GQ:PL 1/1:0,36:36:96.31:1274,96,0
3 38401918 rs818849 A G 1198.15 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.31;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XYLB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427323 GT:AD:DP:GQ:PL 1/1:0,33:33:90.29:1231,90,0
3 38402007 rs818848 T A 475.98 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XYLB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427323 GT:AD:DP:GQ:PL 1/1:0,14:14:39.12:509,39,0
3 38402027 rs861767 G A 346.23 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.48;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XYLB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427323 GT:AD:DP:GQ:PL 1/1:0,11:11:30.09:379,30,0
3 38406648 rs704942 T C 809.85 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.15;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XYLB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000207870 GT:AD:DP:GQ:PL 1/1:0,26:26:60.20:843,60,0
3 38406773 rs704943 G T 1223.24 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8667;MQ=58.05;MQ0=0;QD=33.98;SNPEFF_AMINO_ACID_CHANGE=L125;SNPEFF_CODON_CHANGE=ctG/ctT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_38406690_38406776;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XYLB;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000207870 GT:AD:DP:GQ:PL 1/1:0,36:36:93.29:1256,93,0
3 38406793 rs2234608 T G 1027.58 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.6553;MQ=57.87;MQ0=0;QD=31.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XYLB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000207870 GT:AD:DP:GQ:PL 1/1:0,33:33:81.26:1061,81,0
3 38408107 rs847879 T C 130.53 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.63;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XYLB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000207870 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:163,12,0
3 38408248 rs704946 G A 1287.79 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.77;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XYLB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000207870 GT:AD:DP:GQ:PL 1/1:0,36:36:96.32:1321,96,0
3 38408361 rs843890 G A 2017.94 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.67;DB;DP=56;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.7972;MQ=60.0;MQ0=0;MQRankSum=1.67;QD=36.03;ReadPosRankSum=-1.361;SNPEFF_AMINO_ACID_CHANGE=T190;SNPEFF_CODON_CHANGE=acG/acA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_38408299_38408364;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XYLB;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000207870 GT:AD:DP:GQ:PL 1/1:1,55:56:99:2051,147,0
3 38408459 rs2234617 A G 592.27 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.02;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XYLB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000207870 GT:AD:DP:GQ:PL 1/1:0,16:16:45.15:625,45,0
3 38408536 rs1093684 G A 149.55 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.92;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XYLB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000207870 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:182,15,0
3 38408560 rs1104096 A T 92.72 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XYLB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000207870 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:125,9,0
3 38409600 rs704947 T G 1161.71 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.2;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XYLB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000207870 GT:AD:DP:GQ:PL 1/1:0,33:33:90.28:1195,90,0
3 38411377 rs818832 G A 457.93 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.33;MQ0=0;QD=32.71;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XYLB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000207870 GT:AD:DP:GQ:PL 1/1:0,14:14:36.12:491,36,0
3 38442490 rs2070488 G A 597.45 PASS AB=0.633;AC=1;AF=0.50;AN=2;BaseQRankSum=0.637;DB;DP=60;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=59.62;MQ0=0;MQRankSum=1.001;QD=9.96;ReadPosRankSum=-0.538;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XYLB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000207870 GT:AD:DP:GQ:PL 0/1:38,22:60:99:627,0,1258
3 38519424 rs2070489 A G 877.96 PASS AB=0.605;AC=1;AF=0.50;AN=2;BaseQRankSum=2.519;DB;DP=86;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.8582;MQ=59.73;MQ0=0;MQRankSum=-0.394;QD=10.21;ReadPosRankSum=1.42;SNPEFF_AMINO_ACID_CHANGE=E111;SNPEFF_CODON_CHANGE=gaA/gaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_38519352_38519461;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACVR2B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000352511 GT:AD:DP:GQ:PL 0/1:52,34:86:99:908,0,1716
3 38521156 rs13097628 T C 552.83 PASS AB=0.638;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.844;DB;DP=58;Dels=0.0;FS=4.104;HRun=1;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=1.213;QD=9.53;ReadPosRankSum=1.133;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACVR2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000352511 GT:AD:DP:GQ:PL 0/1:37,21:58:99:583,0,1133
3 38521425 rs4407366 C T 77.43 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.358;QD=15.49;ReadPosRankSum=-0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACVR2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000352511 GT:AD:DP:GQ:PL 0/1:2,3:5:68.41:107,0,68
3 38524742 rs1046048 C T 875.76 PASS AB=0.408;AC=1;AF=0.50;AN=2;BaseQRankSum=2.817;DB;DP=49;Dels=0.0;FS=2.56;HRun=0;HaplotypeScore=1.7653;MQ=60.0;MQ0=0;MQRankSum=1.251;QD=17.87;ReadPosRankSum=-0.01;SNPEFF_AMINO_ACID_CHANGE=N486;SNPEFF_CODON_CHANGE=aaC/aaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_38524629_38524948;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACVR2B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000352511 GT:AD:DP:GQ:PL 0/1:20,29:49:99:906,0,547
3 38537671 rs9838614 T G 47.39 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.69;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=EXOG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287675 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
3 38539095 rs72284153 CTT C 389.95 PASS AB=0.639;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.444;DB;DP=39;FS=1.64;HRun=15;HaplotypeScore=237.6995;IndelType=D;MQ=56.98;MQ0=0;MQRankSum=0.871;QD=10.0;ReadPosRankSum=0.906;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=EXOG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287675 GT:AD:DP:GQ:PL 0/1:15,15:39:99:429,0,276
3 38545349 rs6599206 C T 51.75 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.87;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=EXOG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443942 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:83,6,0
3 38622467 rs7430407 T C 334.20 PASS AB=0.651;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.567;DB;DP=43;Dels=0.0;FS=2.774;HRun=1;HaplotypeScore=0.734;MQ=58.92;MQ0=0;MQRankSum=0.089;QD=7.77;ReadPosRankSum=-0.166;SNPEFF_AMINO_ACID_CHANGE=E1061;SNPEFF_CODON_CHANGE=gaA/gaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_38622422_38622862;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN5A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000333535 GT:AD:DP:GQ:PL 0/1:28,15:43:99:364,0,881
3 38627629 rs7645173 A G 188.05 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=0.91;DB;DP=15;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=56.85;MQ0=0;MQRankSum=0.299;QD=12.54;ReadPosRankSum=1.406;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN5A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000333535 GT:AD:DP:GQ:PL 0/1:8,7:15:99:218,0,246
3 38627633 . GC G 182.34 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=3.016;DP=14;FS=0.0;HRun=3;HaplotypeScore=85.2749;IndelType=D;MQ=56.62;MQ0=0;MQRankSum=0.101;QD=13.02;ReadPosRankSum=1.093;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN5A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000333535 GT:AD:DP:GQ:PL 0/1:7,7:14:99:221,0,220
3 38649924 rs9873213 T C 103.75 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=1.3;DB;DP=7;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.55;QD=14.82;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN5A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000399254 GT:AD:DP:GQ:PL 0/1:3,4:7:99:134,0,103
3 38651586 rs41311529 G C 344.43 PASS AB=0.261;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.256;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.19;MQ0=0;MQRankSum=0.245;QD=14.98;ReadPosRankSum=-0.875;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN5A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491944 GT:AD:DP:GQ:PL 0/1:6,17:23:99:374,0,194
3 38655643 rs9856587 C T 162.92 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.239;DB;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.15;MQ0=0;MQRankSum=0.034;QD=7.41;ReadPosRankSum=-0.99;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN5A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000333535 GT:AD:DP:GQ:PL 0/1:14,8:22:99:193,0,427
3 38656033 rs6797133 A G 199.33 PASS AB=0.591;AC=1;AF=0.50;AN=2;BaseQRankSum=0.534;DB;DP=22;Dels=0.0;FS=1.792;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.601;QD=9.06;ReadPosRankSum=-1.937;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN5A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000333535 GT:AD:DP:GQ:PL 0/1:13,9:22:99:229,0,480
3 38674712 rs6599230 T C 1070.17 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8667;MQ=58.59;MQ0=0;QD=32.43;SNPEFF_AMINO_ACID_CHANGE=A29;SNPEFF_CODON_CHANGE=gcA/gcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_38674602_38674850;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN5A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000327956 GT:AD:DP:GQ:PL 1/1:0,33:33:90.22:1103,90,0
3 38738717 rs6599240 G A 142.68 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.495;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.922;QD=20.38;ReadPosRankSum=-0.922;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN10A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000449082 GT:AD:DP:GQ:PL 0/1:2,5:7:64.22:173,0,64
3 38739574 rs6599241 T C 2508.06 PASS AC=2;AF=1.00;AN=2;DB;DP=77;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.46;MQ0=0;QD=32.57;SNPEFF_AMINO_ACID_CHANGE=M1713V;SNPEFF_CODON_CHANGE=Atg/Gtg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_38738293_38740053;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN10A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000449082 GT:AD:DP:GQ:PL 1/1:0,76:77:99:2541,199,0
3 38739845 rs6599242 A G 3115.59 PASS AC=2;AF=1.00;AN=2;DB;DP=91;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.24;SNPEFF_AMINO_ACID_CHANGE=S1622;SNPEFF_CODON_CHANGE=tcT/tcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_38738293_38740053;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN10A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000449082 GT:AD:DP:GQ:PL 1/1:0,91:91:99:3149,238,0
3 38749026 rs6599248 T A 375.06 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.87;MQ0=0;QD=34.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN10A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000449082 GT:AD:DP:GQ:PL 1/1:0,11:11:33.10:408,33,0
3 38812708 rs4420804 C T 1941.23 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.69;MQ0=0;QD=31.82;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN10A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000449082 GT:AD:DP:GQ:PL 1/1:0,61:61:99:1974,150,0
3 38938299 rs5848481 C CT 587.36 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.144;DB;DP=46;FS=0.0;HRun=14;HaplotypeScore=301.3346;IndelType=I;MQ=54.17;MQ0=0;MQRankSum=-0.021;QD=12.77;ReadPosRankSum=-1.71;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302328 GT:AD:DP:GQ:PL 1/1:14,27:46:10.05:629,10,0
3 38938845 rs4484137 T C 239.51 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.22;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302328 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:272,21,0
3 38945180 rs4289298 G A 77.87 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.96;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302328 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:110,9,0
3 38945560 rs4073113 A G 997.96 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.578;DB;DP=30;Dels=0.0;FS=9.7;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.231;QD=33.27;ReadPosRankSum=-1.733;SNPEFF_AMINO_ACID_CHANGE=C546;SNPEFF_CODON_CHANGE=tgT/tgC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_38945356_38945594;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN11A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000302328 GT:AD:DP:GQ:PL 1/1:1,29:30:42:1031,42,0
3 38946416 rs4553926 T G 138.76 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.75;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302328 GT:AD:DP:GQ:PL 1/1:0,5:5:15.03:171,15,0
3 38946872 rs4514993 A T 1475.47 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.46;MQ0=0;QD=34.31;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302328 GT:AD:DP:GQ:PL 1/1:0,43:43:99:1508,114,0
3 38948771 rs13076816 T A 351.55 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=52.5;MQ0=0;QD=35.15;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302328 GT:AD:DP:GQ:PL 1/1:0,10:10:30.09:385,30,0
3 38948801 rs141158768 ATGTGTGTGTGTG A 1120.05 PASS AC=2;AF=1.00;AN=2;DB;DP=16;FS=0.0;HRun=0;HaplotypeScore=301.576;IndelType=D;MQ=44.65;MQ0=0;QD=70.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302328 GT:AD:DP:GQ:PL 1/1:9,6:16:36.12:1162,36,0
3 38948821 rs138466233 GTGTGTGTGTGTGTA G 1249.52 PASS AC=2;AF=1.00;AN=2;DB;DP=21;FS=0.0;HRun=0;HaplotypeScore=448.4359;IndelType=D;MQ=36.4;MQ0=0;QD=59.5;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302328 GT:AD:DP:GQ:PL 1/1:16,5:21:56.04:1292,56,0
3 38948839 . ATC A 889.90 PASS AC=2;AF=1.00;AN=2;DP=22;FS=0.0;HRun=0;HaplotypeScore=370.1496;IndelType=D;MQ=33.44;MQ0=0;QD=40.45;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302328 GT:AD:DP:GQ:PL 1/1:6,16:22:63.21:932,63,0
3 38948848 . TACACACAC T 1033.03 PASS AC=2;AF=1.00;AN=2;DP=24;FS=0.0;HRun=0;HaplotypeScore=462.1152;IndelType=D;MQ=34.0;MQ0=0;QD=43.04;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302328 GT:AD:DP:GQ:PL 1/1:12,12:24:42.14:1075,42,0
3 38949363 rs6599267 A C 860.22 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.41;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302328 GT:AD:DP:GQ:PL 1/1:0,25:25:66.17:893,66,0
3 38951753 rs7429404 T C 714.34 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;QD=28.57;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302328 GT:AD:DP:GQ:PL 1/1:0,25:25:57.18:747,57,0
3 38961537 rs6779297 T C 572.78 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.04;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302328 GT:AD:DP:GQ:PL 1/1:0,22:22:51.15:606,51,0
3 38961659 rs6599269 T C 92.16 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302328 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:124,9,0
3 38962552 . A G 2516.95 PASS AB=0.546;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.561;DP=196;Dels=0.0;FS=1.124;HRun=2;HaplotypeScore=2.1356;MQ=59.65;MQ0=0;MQRankSum=-1.581;QD=12.84;ReadPosRankSum=0.083;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302328 GT:AD:DP:GQ:PL 0/1:107,89:196:99:2547,0,3126
3 38967103 rs4676474 C T 274.78 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.35;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCN11A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302328 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:308,24,0
3 39149092 rs6786764 A G 49.99 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=12.5;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=GORASP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000441302 GT:AD:DP:GQ:PL 1/1:0,4:4:6.02:81,6,0
3 39166484 rs784508 C T 353.70 PASS AB=0.077;AC=1;AF=0.50;AN=2;BaseQRankSum=0.935;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.668;QD=27.21;ReadPosRankSum=0.935;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC21A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000301819 GT:AD:DP:GQ:PL 0/1:1,12:13:5.66:383,0,6
3 39166509 rs784507 A G 707.23 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.15;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC21A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000301819 GT:AD:DP:GQ:PL 1/1:0,22:22:54.18:740,54,0
3 39166743 rs2669852 T C 531.43 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.43;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC21A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000301819 GT:AD:DP:GQ:PL 1/1:0,15:15:42.14:564,42,0
3 39167905 rs784506 G A 1146.59 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.67;MQ0=0;QD=32.76;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC21A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000301819 GT:AD:DP:GQ:PL 1/1:0,35:35:90.29:1180,90,0
3 39169693 rs1298712 A G 434.18 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.4;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC21A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000301819 GT:AD:DP:GQ:PL 1/1:0,13:13:36.12:467,36,0
3 39169712 rs1274969 T C 602.96 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.5;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC21A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000301819 GT:AD:DP:GQ:PL 1/1:0,18:18:48.16:636,48,0
3 39170090 rs1274968 C T 2004.23 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.56;MQ0=0;QD=37.82;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC21A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000301819 GT:AD:DP:GQ:PL 1/1:0,53:53:99:2037,153,0
3 39172152 rs187569303 A G 407.35 PASS AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.371;DB;DP=38;Dels=0.0;FS=5.225;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.213;QD=10.72;ReadPosRankSum=0.716;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC21A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466875 GT:AD:DP:GQ:PL 0/1:20,18:38:99:437,0,620
3 39174437 rs35628459 T A 222.28 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.05;MQ0=0;QD=27.78;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC21A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466875 GT:AD:DP:GQ:PL 1/1:0,8:8:24.06:255,24,0
3 39174438 rs11381961 G GA 389.89 PASS AC=2;AF=1.00;AN=2;DB;DP=9;FS=0.0;HRun=0;HaplotypeScore=87.5751;IndelType=I;MQ=54.65;MQ0=0;QD=43.32;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC21A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466875 GT:AD:DP:GQ:PL 1/1:1,8:9:27.09:432,27,0
3 39174462 rs784491 T C 439.46 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.85;MQ0=0;QD=29.3;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC21A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466875 GT:AD:DP:GQ:PL 1/1:0,14:15:36.12:472,36,0
3 39175576 rs784492 G T 1108.52 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.17;MQ0=0;QD=39.59;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC21A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466875 GT:AD:DP:GQ:PL 1/1:0,28:28:84.28:1142,84,0
3 39178238 rs784494 A C 370.62 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.69;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC21A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473587 GT:AD:DP:GQ:PL 1/1:0,11:11:33.05:404,33,0
3 39178899 rs784495 C T 340.41 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.62;MQ0=0;QD=24.32;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CSRNP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273153 GT:AD:DP:GQ:PL 1/1:0,14:14:33.07:373,33,0
3 39179909 rs784497 G A 486.33 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.34;MQ0=0;QD=30.4;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CSRNP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273153 GT:AD:DP:GQ:PL 1/1:0,16:16:39.13:519,39,0
3 39180099 rs784498 T C 1962.84 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.24;MQ0=0;QD=32.18;SNPEFF_AMINO_ACID_CHANGE=I1242;SNPEFF_CODON_CHANGE=atT/atC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_39180047_39180114;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC21A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000440121 GT:AD:DP:GQ:PL 1/1:0,61:61:99:1996,156,0
3 39180162 rs811969 A C 1831.34 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.89;MQ0=0;QD=29.07;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CSRNP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273153 GT:AD:DP:GQ:PL 1/1:0,63:63:99:1864,153,0
3 39180263 rs704959 G A 1352.92 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.46;MQ0=0;QD=31.46;SNPEFF_AMINO_ACID_CHANGE=R1268K;SNPEFF_CODON_CHANGE=aGg/aAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_39180202_39180370;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC21A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000440121 GT:AD:DP:GQ:PL 1/1:0,43:43:99:1386,108,0
3 39184353 rs704960 C T 155.61 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.93;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CSRNP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318290 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:188,15,0
3 39184959 rs1274958 C T 670.67 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.94;SNPEFF_AMINO_ACID_CHANGE=V111I;SNPEFF_CODON_CHANGE=Gtc/Atc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_39184546_39185088;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CSRNP1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000318290 GT:AD:DP:GQ:PL 1/1:0,21:21:51.17:704,51,0
3 39185077 rs1274957 G A 608.04 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.95;SNPEFF_AMINO_ACID_CHANGE=S413;SNPEFF_CODON_CHANGE=agC/agT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_39183346_39185535;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CSRNP1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000273153 GT:AD:DP:GQ:PL 1/1:0,20:21:48.15:641,48,0
3 39185248 rs784519 A G 859.08 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.35;SNPEFF_AMINO_ACID_CHANGE=S356;SNPEFF_CODON_CHANGE=tcT/tcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_39183346_39185535;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CSRNP1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000273153 GT:AD:DP:GQ:PL 1/1:0,23:23:66.22:892,66,0
3 39185968 rs810743 A G 516.35 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=53.43;MQ0=0;QD=25.82;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CSRNP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273153 GT:AD:DP:GQ:PL 1/1:1,19:20:42.13:549,42,0
3 39186038 rs784518 C G 64.46 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9315;MQ=38.13;MQ0=0;QD=7.16;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CSRNP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273153 GT:AD:DP:GQ:PL 1/1:0,9:9:9.02:96,9,0
3 39186728 rs784517 C T 322.80 PASS AB=0.531;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.465;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=59.28;MQ0=0;MQRankSum=-1.256;QD=10.09;ReadPosRankSum=0.67;SNPEFF_AMINO_ACID_CHANGE=R75;SNPEFF_CODON_CHANGE=cgG/cgA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_39186488_39186747;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CSRNP1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000273153 GT:AD:DP:GQ:PL 0/1:17,15:32:99:353,0,527
3 39226114 rs34810344 G A 1758.65 PASS AB=0.516;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.543;DB;DP=124;Dels=0.0;FS=2.387;HRun=0;HaplotypeScore=1.5983;MQ=59.66;MQ0=0;MQRankSum=-1.908;QD=14.18;ReadPosRankSum=1.873;SNPEFF_AMINO_ACID_CHANGE=A1608V;SNPEFF_CODON_CHANGE=gCa/gTa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_39224706_39231016;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XIRP1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000340369 GT:AD:DP:GQ:PL 0/1:64,60:124:99:1789,0,1886
3 39229900 rs6805248 T C 3374.20 PASS AC=2;AF=1.00;AN=2;DB;DP=110;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.7332;MQ=60.0;MQ0=0;QD=30.67;SNPEFF_AMINO_ACID_CHANGE=Q346R;SNPEFF_CODON_CHANGE=cAg/cGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_39224706_39231016;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XIRP1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000340369 GT:AD:DP:GQ:PL 1/1:0,109:110:99:3374,271,0
3 39230997 rs2271487 A G 352.04 PASS AB=0.481;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.111;DB;DP=27;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.39;MQ0=0;MQRankSum=-1.723;QD=13.04;ReadPosRankSum=0.51;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=XIRP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421646 GT:AD:DP:GQ:PL 0/1:13,14:27:99:382,0,394
3 39306784 rs1050592 A G 277.11 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.32;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.315;QD=13.2;ReadPosRankSum=-0.249;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CX3CR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000412814 GT:AD:DP:GQ:PL 0/1:12,9:21:99:307,0,433
3 39306894 . C T 1753.77 PASS AB=0.411;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.116;DP=95;Dels=0.0;FS=6.891;HRun=1;HaplotypeScore=2.7541;MQ=60.0;MQ0=0;MQRankSum=1.214;QD=18.46;ReadPosRankSum=-1.381;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CX3CR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000412814 GT:AD:DP:GQ:PL 0/1:39,56:95:99:1784,0,1187
3 39307256 rs3732379 C T 1277.40 PASS AB=0.443;AC=1;AF=0.50;AN=2;BaseQRankSum=3.444;DB;DP=88;Dels=0.0;FS=4.679;HRun=0;HaplotypeScore=5.9867;MQ=59.21;MQ0=0;MQRankSum=0.347;QD=14.52;ReadPosRankSum=-1.284;SNPEFF_AMINO_ACID_CHANGE=V249I;SNPEFF_CODON_CHANGE=Gtt/Att;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_39304985_39308009;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CX3CR1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000399220 GT:AD:DP:GQ:PL 0/1:39,49:88:99:1307,0,1138
3 39322843 rs2853708 G C 40.31 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.16;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CX3CR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358309 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:72,6,0
3 39323163 rs11715522 A C 684 PASS AB=0.432;AC=1;AF=0.50;AN=2;BaseQRankSum=3.607;DB;DP=44;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.48;MQ0=0;MQRankSum=-0.751;QD=15.55;ReadPosRankSum=-0.135;SNPEFF_AMINO_ACID_CHANGE=F8L;SNPEFF_CODON_CHANGE=ttT/ttG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_39323100_39323226;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CX3CR1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000358309 GT:AD:DP:GQ:PL 0/1:19,25:44:99:714,0,533
3 39373902 rs2853699 C G 932.84 PASS AB=0.549;AC=1;AF=0.50;AN=2;BaseQRankSum=2.317;DB;DP=71;Dels=0.0;FS=0.912;HRun=2;HaplotypeScore=0.0;MQ=59.68;MQ0=0;MQRankSum=-0.676;QD=13.14;ReadPosRankSum=-0.537;SNPEFF_AMINO_ACID_CHANGE=R2G;SNPEFF_CODON_CHANGE=Cgg/Ggg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_39373809_39373922;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCR8;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000545843 GT:AD:DP:GQ:PL 0/1:39,32:71:99:963,0,1152
3 39431081 rs2270770 G A 1774.10 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.1445;MQ=59.57;MQ0=0;QD=32.85;SNPEFF_AMINO_ACID_CHANGE=L51;SNPEFF_CODON_CHANGE=ctG/ctA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_39430986_39431107;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC25A38;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000431510 GT:AD:DP:GQ:PL 1/1:0,53:54:99:1807,138,0
3 39433147 rs1995236 G A 1387.77 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.74;MQ0=0;QD=37.51;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC25A38;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000431510 GT:AD:DP:GQ:PL 1/1:0,37:37:99:1421,105,0
3 39437800 rs9877539 A G 3471.38 PASS AC=2;AF=1.00;AN=2;DB;DP=109;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=4.4495;MQ=59.58;MQ0=0;QD=31.85;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC25A38;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000431510 GT:AD:DP:GQ:PL 1/1:0,109:109:99:3471,268,0
3 39449810 rs3772139 A C 1165.16 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.41;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RPSA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475346 GT:AD:DP:GQ:PL 1/1:0,32:32:87.29:1198,87,0
3 39452123 rs2077797 G A 887.65 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=51.31;MQ0=0;QD=36.99;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RPSA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475346 GT:AD:DP:GQ:PL 1/1:0,24:24:69.23:921,69,0
3 39452129 rs2077799 G T 1024.55 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=50.75;MQ0=0;QD=37.95;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RPSA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475346 GT:AD:DP:GQ:PL 1/1:0,27:27:78.26:1058,78,0
3 39453057 rs2269349 C T 1101.38 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=55.64;MQ0=0;QD=35.53;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RPSA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000444512 GT:AD:DP:GQ:PL 1/1:0,31:31:87.28:1134,87,0
3 39453610 rs2723 C T 1593.50 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=56.24;MQ0=0;QD=31.87;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RPSA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000444512 GT:AD:DP:GQ:PL 1/1:0,50:50:99:1626,126,0
3 39554786 rs2233204 C T 361.96 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.815;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9983;MQ=60.0;MQ0=0;MQRankSum=0.402;QD=9.28;ReadPosRankSum=-2.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MOBP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000311042 GT:AD:DP:GQ:PL 0/1:26,13:39:99:392,0,967
3 40085814 . A C 42.71 QDFilter2 AB=0.238;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.592;DP=22;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=3.6714;MQ=60.0;MQ0=0;MQRankSum=-0.761;QD=1.94;ReadPosRankSum=0.761;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYRIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302541 GT:AD:DP:GQ:PL 0/1:5,16:22:42.79:73,0,43
3 40204178 rs1714414 T C 1262.65 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.42;MQ0=0;QD=31.57;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYRIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302541 GT:AD:DP:GQ:PL 1/1:0,40:40:99:1296,99,0
3 40231883 rs1317317 C T 1449.10 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.44;MQ0=0;QD=35.34;SNPEFF_AMINO_ACID_CHANGE=L345;SNPEFF_CODON_CHANGE=Ctg/Ttg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_40231317_40231954;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYRIP;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000539167 GT:AD:DP:GQ:PL 1/1:0,41:41:99:1482,111,0
3 40251282 rs2679798 G A 2023.67 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.676;DB;DP=62;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9992;MQ=59.63;MQ0=0;MQRankSum=-0.782;QD=32.64;ReadPosRankSum=0.056;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYRIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302541 GT:AD:DP:GQ:PL 1/1:1,61:62:99:2057,166,0
3 40251392 rs1799418 T C 3332.88 PASS AC=2;AF=1.00;AN=2;DB;DP=102;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=1.6208;MQ=59.59;MQ0=0;QD=32.68;SNPEFF_AMINO_ACID_CHANGE=D384;SNPEFF_CODON_CHANGE=gaT/gaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_40251345_40251584;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYRIP;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000539167 GT:AD:DP:GQ:PL 1/1:0,102:102:99:3333,262,0
3 40251628 rs1799419 G A 546.86 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.01;MQ0=0;QD=28.78;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYRIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302541 GT:AD:DP:GQ:PL 1/1:0,19:19:42.14:580,42,0
3 40352640 rs1454490 A G 290.50 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.05;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EIF1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000232905 GT:AD:DP:GQ:PL 1/1:0,10:10:24.08:323,24,0
3 40353259 rs1470937 T G 162.07 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.01;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EIF1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462088 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:195,15,0
3 40429338 rs12493020 T G 49.99 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ENTPD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000301825 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
3 40468886 rs143157203 T A 1054.97 PASS AB=0.383;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.37;DB;DP=60;Dels=0.0;FS=3.707;HRun=0;HaplotypeScore=2.6247;MQ=59.62;MQ0=0;MQRankSum=0.21;QD=17.58;ReadPosRankSum=-0.054;SNPEFF_AMINO_ACID_CHANGE=F493I;SNPEFF_CODON_CHANGE=Ttc/Atc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_40468763_40470110;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ENTPD3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000301825 GT:AD:DP:GQ:PL 0/1:23,37:60:99:1085,0,726
3 40498845 rs2276868 C T 256.95 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.69;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_3_40498783_40498854;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RPL14;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000338970 GT:AD:DP:GQ:PL 1/1:0,10:10:21.07:290,21,0
3 40498933 rs4973904 A G 171.31 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RPL14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000338970 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:204,15,0
3 40499182 rs2276870 C T 32.42 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=51.77;MQ0=0;QD=10.81;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RPL14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000338970 GT:AD:DP:GQ:PL 1/1:0,3:3:6.01:64,6,0
3 40499273 rs2276871 A G 415.30 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.75;MQ0=0;QD=27.69;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RPL14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000338970 GT:AD:DP:GQ:PL 1/1:0,15:15:39.11:448,39,0
3 40503520 rs147295890 A ACTGCTGCTGCTGCTG 5411.14 PASS AC=2;AF=1.00;AN=2;DB;DP=53;FS=0.0;HRun=0;HaplotypeScore=521.0005;IndelType=I;MQ=33.09;MQ0=2;QD=91.71;SNPEFF_AMINO_ACID_CHANGE=T149TAAAAA;SNPEFF_CODON_CHANGE=act/aCTGCTGCTGCTGCTGct;SNPEFF_EFFECT=CODON_INSERTION;SNPEFF_EXON_ID=exon_3_40503430_40503861;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RPL14;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000338970 GT:AD:DP:GQ:PL 1/1:45,12:53:81.28:5411,81,0
3 40503809 rs11539046 G A 410.74 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=51.58;MQ0=0;QD=31.6;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RPL14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000416518 GT:AD:DP:GQ:PL 1/1:0,13:13:33.11:444,33,0
3 40519429 rs4553952 T C 729.03 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.99;MQ0=0;QD=31.7;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF619;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462961 GT:AD:DP:GQ:PL 1/1:0,23:23:63.19:762,63,0
3 40557271 rs71094610 TTG T 236.49 PASS AC=2;AF=1.00;AN=2;DB;DP=19;FS=0.0;HRun=0;HaplotypeScore=79.6895;IndelType=D;MQ=59.36;MQ0=0;QD=12.45;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF620;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000433723 GT:AD:DP:GQ:PL 1/1:7,11:19:26.91:279,27,0
3 40803102 rs681529 G C 948.93 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=30.6;MQ0=8;QD=23.72;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP11-761N21.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000457554 GT:AD:DP:GQ:PL 1/1:0,40:40:87.23:982,87,0
3 41274764 rs2691680 C A 433.48 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.34;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CTNNB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000349496 GT:AD:DP:GQ:PL 1/1:0,13:13:36.12:466,36,0
3 41279440 rs4135385 A G 387.08 PASS AB=0.579;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.267;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.8606;MQ=59.39;MQ0=0;MQRankSum=-1.02;QD=10.19;ReadPosRankSum=-1.848;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CTNNB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465552 GT:AD:DP:GQ:PL 0/1:22,16:38:99:417,0,782
3 41607701 rs1565957 C G 581.65 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.78;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ULK4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000301831 GT:AD:DP:GQ:PL 1/1:0,15:15:45.15:615,45,0
3 41756965 rs61744388 C T 806.32 PASS AB=0.548;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.347;DB;DP=73;Dels=0.0;FS=1.971;HRun=0;HaplotypeScore=1.6281;MQ=59.68;MQ0=0;MQRankSum=1.934;QD=11.05;ReadPosRankSum=-0.039;SNPEFF_AMINO_ACID_CHANGE=V851I;SNPEFF_CODON_CHANGE=Gta/Ata;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_41756939_41757060;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ULK4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000301831 GT:AD:DP:GQ:PL 0/1:40,33:73:99:836,0,1164
3 41756986 rs61744385 A T 929.61 PASS AB=0.477;AC=1;AF=0.50;AN=2;BaseQRankSum=2.003;DB;DP=65;Dels=0.0;FS=0.981;HRun=0;HaplotypeScore=0.6651;MQ=59.65;MQ0=0;MQRankSum=0.847;QD=14.3;ReadPosRankSum=-1.294;SNPEFF_AMINO_ACID_CHANGE=L844M;SNPEFF_CODON_CHANGE=Ttg/Atg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_41756939_41757060;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ULK4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000301831 GT:AD:DP:GQ:PL 0/1:31,34:65:99:960,0,922
3 41759191 rs17060938 T C 703.84 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.819;DB;DP=45;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.054;QD=15.64;ReadPosRankSum=-0.915;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ULK4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000301831 GT:AD:DP:GQ:PL 0/1:18,27:45:99:734,0,595
3 41759525 rs9852303 C T 108.39 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.55;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.55;QD=15.48;ReadPosRankSum=-0.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ULK4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000301831 GT:AD:DP:GQ:PL 0/1:3,4:7:99:138,0,104
3 41795841 rs9867627 A C 2320.98 PASS AB=0.479;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.219;DB;DP=166;Dels=0.0;FS=0.575;HRun=0;HaplotypeScore=1.9523;MQ=59.69;MQ0=0;MQRankSum=-2.485;QD=13.98;ReadPosRankSum=0.194;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ULK4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000301831 GT:AD:DP:GQ:PL 0/1:79,86:166:99:2351,0,2377
3 41831203 rs17215589 C T 701.03 PASS AB=0.519;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.066;DB;DP=54;Dels=0.0;FS=1.121;HRun=0;HaplotypeScore=0.0;MQ=59.22;MQ0=0;MQRankSum=-0.028;QD=12.98;ReadPosRankSum=-0.557;SNPEFF_AMINO_ACID_CHANGE=A715T;SNPEFF_CODON_CHANGE=Gct/Act;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_41831153_41831335;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ULK4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000301831 GT:AD:DP:GQ:PL 0/1:28,26:54:99:731,0,821
3 41841716 rs4973986 A C 3352.09 PASS AC=2;AF=1.00;AN=2;DB;DP=94;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9979;MQ=57.55;MQ0=0;QD=35.66;SNPEFF_AMINO_ACID_CHANGE=S640A;SNPEFF_CODON_CHANGE=Tcc/Gcc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_41841624_41841785;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ULK4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000301831 GT:AD:DP:GQ:PL 1/1:0,94:94:99:3352,250,0
3 41841811 . T TATTA 1812.59 PASS AB=0.733;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.003;DP=66;FS=4.454;HRun=0;HaplotypeScore=273.1004;IndelType=I;MQ=56.48;MQ0=0;MQRankSum=-2.546;QD=27.46;ReadPosRankSum=0.806;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ULK4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000301831 GT:AD:DP:GQ:PL 0/1:42,24:66:99:1852,0,1828
3 41841873 rs17215883 C T 360.13 PASS AB=0.581;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.261;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9933;MQ=59.25;MQ0=0;MQRankSum=0.02;QD=11.62;ReadPosRankSum=0.781;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ULK4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000301831 GT:AD:DP:GQ:PL 0/1:18,13:31:99:390,0,649
3 41861013 rs141111291 GA G 536.26 PASS AB=0.674;AC=1;AF=0.50;AN=2;BaseQRankSum=3.727;DB;DP=58;FS=2.725;HRun=9;HaplotypeScore=171.0771;IndelType=D;MQ=60.33;MQ0=0;MQRankSum=0.481;QD=9.25;ReadPosRankSum=-0.972;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ULK4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000301831 GT:AD:DP:GQ:PL 0/1:30,28:58:99:575,0,675
3 41877414 rs3774372 T C 1608.11 PASS AB=0.488;AC=1;AF=0.50;AN=2;BaseQRankSum=0.875;DB;DP=125;Dels=0.0;FS=11.289;HRun=0;HaplotypeScore=1.7608;MQ=56.82;MQ0=0;MQRankSum=0.041;QD=12.86;ReadPosRankSum=1.229;SNPEFF_AMINO_ACID_CHANGE=K569R;SNPEFF_CODON_CHANGE=aAa/aGa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_41877356_41877463;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ULK4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000301831 GT:AD:DP:GQ:PL 0/1:61,64:125:99:1638,0,1961
3 41923513 rs59960840 GA G 132.16 PASS AC=2;AF=1.00;AN=2;DB;DP=6;FS=0.0;HRun=1;HaplotypeScore=74.8688;IndelType=D;MQ=29.0;MQ0=0;QD=22.03;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ULK4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420927 GT:AD:DP:GQ:PL 1/1:0,6:6:15.04:174,15,0
3 41923515 rs61575884 GGCCA G 238.05 PASS AC=2;AF=1.00;AN=2;DB;DP=6;FS=0.0;HRun=0;HaplotypeScore=73.1998;IndelType=D;MQ=29.0;MQ0=0;QD=39.68;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ULK4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420927 GT:AD:DP:GQ:PL 1/1:0,6:6:14.93:280,15,0
3 41923872 rs1716994 T C 305.60 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.96;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ULK4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000301831 GT:AD:DP:GQ:PL 1/1:0,9:9:27.08:339,27,0
3 41925260 rs113374533 CAGAGAAAAAACAAGTGA C 1348.68 PASS AB=0.63;AC=1;AF=0.50;AN=2;BaseQRankSum=3.367;DB;DP=17;FS=0.0;HRun=0;HaplotypeScore=291.5748;IndelType=D;MQ=47.07;MQ0=0;MQRankSum=-2.781;QD=79.33;ReadPosRankSum=1.122;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ULK4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000301831 GT:AD:DP:GQ:PL 0/1:7,10:17:99:1388,0,1708
3 41925301 rs1716685 T C 411.47 PASS AB=0.55;AC=1;AF=0.50;AN=2;BaseQRankSum=2.69;DB;DP=40;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.7887;MQ=51.99;MQ0=0;MQRankSum=-2.803;QD=10.29;ReadPosRankSum=-1.085;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ULK4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000301831 GT:AD:DP:GQ:PL 0/1:22,18:40:99:441,0,678
3 41925398 rs1052501 C T 1287.01 PASS AB=0.448;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.858;DB;DP=87;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.7998;MQ=57.3;MQ0=0;MQRankSum=-0.917;QD=14.79;ReadPosRankSum=0.977;SNPEFF_AMINO_ACID_CHANGE=A542T;SNPEFF_CODON_CHANGE=Gct/Act;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_41925366_41925444;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ULK4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000301831 GT:AD:DP:GQ:PL 0/1:39,48:87:99:1317,0,1166
3 41925423 rs1716687 T C 2953.84 PASS AC=2;AF=1.00;AN=2;DB;DP=83;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.58;MQ0=0;QD=35.59;SNPEFF_AMINO_ACID_CHANGE=V533;SNPEFF_CODON_CHANGE=gtA/gtG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_41925366_41925444;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ULK4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000301831 GT:AD:DP:GQ:PL 1/1:0,82:83:99:2987,235,0
3 41937000 rs1717003 C T 71.60 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.684;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.956;QD=8.95;ReadPosRankSum=1.517;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ULK4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000301831 GT:AD:DP:GQ:PL 0/1:5,3:8:99:102,0,114
3 41938500 rs1717005 G C 2531.33 PASS AC=2;AF=1.00;AN=2;DB;DP=75;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.1232;MQ=60.0;MQ0=0;QD=33.75;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ULK4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000301831 GT:AD:DP:GQ:PL 1/1:0,74:75:99:2564,190,0
3 41939781 rs73069209 G A 246.97 PASS AB=0.437;AC=1;AF=0.50;AN=2;BaseQRankSum=2.752;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.318;QD=15.44;ReadPosRankSum=0.212;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ULK4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000301831 GT:AD:DP:GQ:PL 0/1:7,9:16:99:277,0,203
3 41939993 rs1625226 T A 2335.51 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.555;DB;DP=100;Dels=0.0;FS=0.0;HRun=9;HaplotypeScore=4.5517;MQ=59.54;MQ0=0;MQRankSum=0.99;QD=23.36;ReadPosRankSum=-1.661;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ULK4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000301831 GT:AD:DP:GQ:PL 1/1:2,98:100:99:2369,211,0
3 41942199 rs1717007 T C 1445.11 PASS AB=0.54;AC=1;AF=0.50;AN=2;BaseQRankSum=3.102;DB;DP=113;Dels=0.0;FS=1.852;HRun=0;HaplotypeScore=0.734;MQ=59.18;MQ0=0;MQRankSum=-0.775;QD=12.79;ReadPosRankSum=-2.077;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ULK4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000301831 GT:AD:DP:GQ:PL 0/1:61,52:113:99:1475,0,1850
3 41942498 rs4615050 T A 66.49 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=0.322;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.5518;MQ=43.31;MQ0=0;MQRankSum=1.92;QD=8.31;ReadPosRankSum=-0.322;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ULK4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000301831 GT:AD:DP:GQ:PL 0/1:5,3:8:96.48:96,0,138
3 41949301 rs59146151 T C 221.17 PASS AB=0.654;AC=1;AF=0.50;AN=2;BaseQRankSum=0.087;DB;DP=26;Dels=0.0;FS=4.949;HRun=1;HaplotypeScore=0.9894;MQ=58.2;MQ0=0;MQRankSum=0.961;QD=8.51;ReadPosRankSum=-1.544;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ULK4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481226 GT:AD:DP:GQ:PL 0/1:17,9:26:99:251,0,619
3 41949569 rs60659106 G C 44.50 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.95;MQ0=0;MQRankSum=0.0;QD=11.12;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ULK4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484323 GT:AD:DP:GQ:PL 0/1:2,2:4:32.73:74,0,33
3 41952781 rs1716991 C T 1477.20 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.17;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ULK4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484323 GT:AD:DP:GQ:PL 1/1:0,42:42:99:1510,111,0
3 41952852 rs35263917 T C 960.74 PASS AB=0.426;AC=1;AF=0.50;AN=2;BaseQRankSum=1.772;DB;DP=61;Dels=0.0;FS=2.236;HRun=1;HaplotypeScore=0.9958;MQ=60.0;MQ0=0;MQRankSum=0.652;QD=15.75;ReadPosRankSum=-0.1;SNPEFF_AMINO_ACID_CHANGE=S348G;SNPEFF_CODON_CHANGE=Agt/Ggt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_41952809_41952878;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ULK4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000301831 GT:AD:DP:GQ:PL 0/1:26,35:61:99:991,0,737
3 41953332 rs1716681 C T 133.43 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.21;MQ0=0;QD=26.69;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ULK4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000301831 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:166,12,0
3 41957466 rs1716698 T G 522.77 PASS AB=0.585;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.132;DB;DP=53;Dels=0.0;FS=12.173;HRun=0;HaplotypeScore=0.0;MQ=59.21;MQ0=0;MQRankSum=0.551;QD=9.86;ReadPosRankSum=0.352;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ULK4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000459802 GT:AD:DP:GQ:PL 0/1:31,22:53:99:553,0,1035
3 41960006 rs1716975 T C 1093.81 PASS AB=0.53;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.371;DB;DP=83;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9159;MQ=54.79;MQ0=0;MQRankSum=0.771;QD=13.18;ReadPosRankSum=0.613;SNPEFF_AMINO_ACID_CHANGE=I224V;SNPEFF_CODON_CHANGE=Att/Gtt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_41959949_41960032;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ULK4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000301831 GT:AD:DP:GQ:PL 0/1:44,39:83:99:1124,0,1187
3 41961168 rs1716979 T C 1937.49 PASS AB=0.534;AC=1;AF=0.50;AN=2;BaseQRankSum=5.847;DB;DP=146;Dels=0.0;FS=3.374;HRun=0;HaplotypeScore=6.5286;MQ=60.0;MQ0=0;MQRankSum=2.732;QD=13.27;ReadPosRankSum=1.775;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ULK4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000459802 GT:AD:DP:GQ:PL 0/1:78,68:146:99:1967,0,2569
3 41973062 rs1716992 T C 63.21 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=51.77;MQ0=0;QD=21.07;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ULK4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000431379 GT:AD:DP:GQ:PL 1/1:0,3:3:9.02:95,9,0
3 41977214 rs3934103 C T 210.91 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.101;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.71;MQ0=0;MQRankSum=0.66;QD=16.22;ReadPosRankSum=-1.093;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ULK4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000414606 GT:AD:DP:GQ:PL 0/1:6,7:13:99:241,0,206
3 41977464 rs73071203 A C 480.17 PASS AB=0.488;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.547;DB;DP=43;Dels=0.0;FS=9.551;HRun=1;HaplotypeScore=1.6643;MQ=60.5;MQ0=0;MQRankSum=-2.831;QD=11.17;ReadPosRankSum=-2.247;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ULK4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000414606 GT:AD:DP:GQ:PL 0/1:21,22:43:99:510,0,649
3 41977488 rs141971314 CCT C 608.23 PASS AB=0.673;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.9;DB;DP=33;FS=5.871;HRun=0;HaplotypeScore=157.1636;IndelType=D;MQ=60.98;MQ0=0;MQRankSum=-1.207;QD=18.43;ReadPosRankSum=0.09;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ULK4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000414606 GT:AD:DP:GQ:PL 0/1:17,16:33:99:647,0,890
3 41978738 rs73071208 A T 111.72 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.922;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=61.53;MQ0=0;MQRankSum=0.922;QD=15.96;ReadPosRankSum=-0.922;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ULK4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460978 GT:AD:DP:GQ:PL 0/1:2,5:7:64.82:142,0,65
3 41996136 rs2272007 T C 808.61 PASS AB=0.573;AC=1;AF=0.50;AN=2;BaseQRankSum=1.58;DB;DP=75;Dels=0.0;FS=3.158;HRun=0;HaplotypeScore=0.9995;MQ=60.0;MQ0=0;MQRankSum=1.462;QD=10.78;ReadPosRankSum=-0.412;SNPEFF_AMINO_ACID_CHANGE=K39R;SNPEFF_CODON_CHANGE=aAa/aGa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_41996114_41996299;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ULK4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000301831 GT:AD:DP:GQ:PL 0/1:43,32:75:99:839,0,1323
3 41996275 rs7651623 A G 1049.39 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.79;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ULK4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000459802 GT:AD:DP:GQ:PL 1/1:0,32:32:81.26:1082,81,0
3 41996304 rs17284472 G A 378.97 PASS AB=0.391;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.87;DB;DP=23;Dels=0.0;FS=2.643;HRun=2;HaplotypeScore=0.0;MQ=59.19;MQ0=0;MQRankSum=-0.735;QD=16.48;ReadPosRankSum=-1.068;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ULK4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000301831 GT:AD:DP:GQ:PL 0/1:9,14:23:99:409,0,317
3 42133149 rs4974011 C G 34.51 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=1.3;DB;DP=7;Dels=0.0;FS=3.68;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.3;QD=4.93;ReadPosRankSum=-1.754;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TRAK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327628 GT:AD:DP:GQ:PL 0/1:4,3:7:64.51:65,0,132
3 42201609 rs9757367 A G 44.31 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.16;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TRAK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327628 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:76,6,0
3 42202061 rs4974003 G T 407.59 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.05;FS=0.0;HRun=9;HaplotypeScore=1.9632;MQ=52.17;MQ0=0;QD=18.53;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TRAK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327628 GT:AD:DP:GQ:PL 1/1:0,21:21:39.11:441,39,0
3 42218095 rs1010987 G C 259.80 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.11;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TRAK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327628 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:293,21,0
3 42225951 rs4682953 G T 166.55 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.76;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TRAK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327628 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:199,15,0
3 42226151 rs4234445 T C 2561.30 PASS AC=2;AF=1.00;AN=2;DB;DP=73;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.68;MQ0=0;QD=35.09;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TRAK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327628 GT:AD:DP:GQ:PL 1/1:0,73:73:99:2594,199,0
3 42226438 rs1375536 C G 166.10 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.22;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TRAK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418790 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:199,15,0
3 42229296 rs1463194 G A 163.22 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;QD=32.64;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TRAK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418790 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:196,15,0
3 42230395 rs3816396 C T 50.87 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.517;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.63;MQ0=0;MQRankSum=-0.684;QD=6.36;ReadPosRankSum=-0.956;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TRAK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418790 GT:AD:DP:GQ:PL 0/1:5,3:8:80.86:81,0,171
3 42234758 rs3816397 C A 902.96 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.62;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TRAK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327628 GT:AD:DP:GQ:PL 1/1:0,24:24:69.23:936,69,0
3 42236415 rs9851455 A G 616.64 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=59.11;MQ0=0;QD=29.36;SNPEFF_AMINO_ACID_CHANGE=S291;SNPEFF_CODON_CHANGE=tcA/tcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_42236296_42236433;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TRAK1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000449246 GT:AD:DP:GQ:PL 1/1:0,21:21:48.16:650,48,0
3 42244321 rs9311309 G A 717.87 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.89;SNPEFF_AMINO_ACID_CHANGE=A533;SNPEFF_CODON_CHANGE=gcG/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_42243928_42245681;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TRAK1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000449246 GT:AD:DP:GQ:PL 1/1:0,20:20:57.19:751,57,0
3 42251263 rs2290134 C T 1610.26 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.48;MQ0=0;QD=36.6;SNPEFF_AMINO_ACID_CHANGE=S525;SNPEFF_CODON_CHANGE=tcC/tcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_42251259_42254115;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TRAK1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000341421 GT:AD:DP:GQ:PL 1/1:0,44:44:99:1643,120,0
3 42251329 rs2290133 C T 2370.15 PASS AC=2;AF=1.00;AN=2;DB;DP=70;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.4;MQ0=0;QD=33.86;SNPEFF_AMINO_ACID_CHANGE=P547;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_42251259_42254115;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TRAK1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000341421 GT:AD:DP:GQ:PL 1/1:0,70:70:99:2403,181,0
3 42251577 rs10634555 C CGGAGGA 2657.84 PASS AC=2;AF=1.00;AN=2;DB;DP=69;FS=0.0;HRun=0;HaplotypeScore=447.5824;IndelType=I;MQ=45.7;MQ0=0;QD=38.52;SNPEFF_AMINO_ACID_CHANGE=T630TEE;SNPEFF_CODON_CHANGE=acg/acGGAGGAg;SNPEFF_EFFECT=CODON_INSERTION;SNPEFF_EXON_ID=exon_3_42251259_42254115;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TRAK1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000341421 GT:AD:DP:GQ:PL 1/1:38,22:69:99:2700,99,0
3 42251868 rs71827158 CT C 954.80 PASS AC=2;AF=1.00;AN=2;DB;DP=38;FS=0.0;HRun=3;HaplotypeScore=288.2283;IndelType=D;MQ=53.89;MQ0=0;QD=25.13;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TRAK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327628 GT:AD:DP:GQ:PL 1/1:9,29:38:81.25:997,81,0
3 42305131 rs754635 C G 239.16 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=53.95;MQ0=0;QD=29.9;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334681 GT:AD:DP:GQ:PL 1/1:0,8:8:21.07:272,21,0
3 42438754 rs13054 T C 37.93 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=12.64;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LYZL4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470991 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:69,6,0
3 42445679 rs40416 C A 103.53 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.729;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=55.21;MQ0=0;MQRankSum=1.307;QD=10.35;ReadPosRankSum=-0.361;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LYZL4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287748 GT:AD:DP:GQ:PL 0/1:6,4:10:99:134,0,145
3 42448296 rs33518 T C 752.30 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.71;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LYZL4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000287748 GT:AD:DP:GQ:PL 1/1:0,23:23:60.16:785,60,0
3 42448471 rs2286720 G A 425.25 PASS AB=0.423;AC=1;AF=0.50;AN=2;BaseQRankSum=1.713;DB;DP=26;Dels=0.0;FS=1.462;HRun=2;HaplotypeScore=0.7887;MQ=59.11;MQ0=0;MQRankSum=-1.609;QD=16.36;ReadPosRankSum=-0.208;SNPEFF_AMINO_ACID_CHANGE=F53;SNPEFF_CODON_CHANGE=ttC/ttT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_42448338_42448490;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LYZL4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000287748 GT:AD:DP:GQ:PL 0/1:11,15:26:99:455,0,349
3 42469249 rs59799025 GCACA G 175.28 PASS AC=2;AF=1.00;AN=2;DB;DP=23;FS=0.0;HRun=0;HaplotypeScore=171.8307;IndelType=D;MQ=54.13;MQ0=0;QD=7.62;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AC092047.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401194 GT:AD:DP:GQ:PL 1/1:16,5:23:19.29:217,19,0
3 42660330 rs77328578 G T 46.56 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.28;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NKTR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000232978 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:78,6,0
3 42660489 rs71709233 CT C 85.71 PASS AB=0.698;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.627;DB;DP=37;FS=1.72;HRun=18;HaplotypeScore=329.0104;IndelType=D;MQ=54.4;MQ0=0;MQRankSum=0.116;QD=2.32;ReadPosRankSum=1.694;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NKTR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000232978 GT:AD:DP:GQ:PL 0/1:19,12:37:99:125,0,159
3 42676549 rs67298003 TAAAAAAA T 221.41 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=0.742;DB;DP=7;FS=0.0;HRun=21;HaplotypeScore=56.3473;IndelType=D;MQ=54.54;MQ0=0;MQRankSum=0.742;QD=31.63;ReadPosRankSum=-0.742;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NKTR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464315 GT:AD:DP:GQ:PL 0/1:1,6:7:42.16:260,0,42
3 42728144 rs6805421 A G 772.20 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=0.603;DB;DP=45;Dels=0.0;FS=2.843;HRun=0;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=0.921;QD=17.16;ReadPosRankSum=1.285;SNPEFF_AMINO_ACID_CHANGE=N345S;SNPEFF_CODON_CHANGE=aAc/aGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_42727011_42728262;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KBTBD5;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000287777 GT:AD:DP:GQ:PL 0/1:21,24:45:99:802,0,604
3 42733468 rs123509 T C 472.43 PASS AB=0.433;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.846;DB;DP=30;Dels=0.0;FS=1.462;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.293;QD=15.75;ReadPosRankSum=0.419;SNPEFF_AMINO_ACID_CHANGE=C362R;SNPEFF_CODON_CHANGE=Tgc/Cgc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_42733374_42733612;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KBTBD5;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000452129 GT:AD:DP:GQ:PL 0/1:13,17:30:99:502,0,407
3 42735150 rs11079 T C 264.07 PASS AB=0.655;AC=1;AF=0.50;AN=2;BaseQRankSum=0.941;DB;DP=29;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.206;QD=9.11;ReadPosRankSum=0.619;SNPEFF_AMINO_ACID_CHANGE=M403V;SNPEFF_CODON_CHANGE=Atg/Gtg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_42735109_42735310;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=HHATL;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000310417 GT:AD:DP:GQ:PL 0/1:19,10:29:99:294,0,557
3 42735274 rs339697 A G 428.11 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.327;DB;DP=30;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9789;MQ=60.0;MQ0=0;MQRankSum=2.489;QD=14.27;ReadPosRankSum=-0.166;SNPEFF_AMINO_ACID_CHANGE=A361;SNPEFF_CODON_CHANGE=gcT/gcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_42735109_42735310;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=HHATL;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000310417 GT:AD:DP:GQ:PL 0/1:15,15:30:99:458,0,453
3 42738297 rs2290973 G A 392.82 PASS AB=0.35;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.951;DB;DP=20;Dels=0.0;FS=1.862;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.555;QD=19.64;ReadPosRankSum=-0.317;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CCDC13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000496027 GT:AD:DP:GQ:PL 0/1:7,13:20:99:423,0,201
3 42740860 rs60176972 C A 49.99 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=HHATL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310417 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
3 42750324 rs2240861 G A 189.61 PASS AB=0.588;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.049;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.342;QD=11.15;ReadPosRankSum=0.439;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CCDC13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466031 GT:AD:DP:GQ:PL 0/1:10,7:17:99:220,0,345
3 42751041 . AC A 119.90 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=2.219;DP=9;FS=0.0;HRun=3;HaplotypeScore=28.1873;IndelType=D;MQ=57.39;MQ0=0;MQRankSum=-1.307;QD=13.32;ReadPosRankSum=0.361;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CCDC13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466031 GT:AD:DP:GQ:PL 0/1:4,5:9:99:159,0,146
3 42754505 rs11713172 C T 73.50 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.231;QD=14.7;ReadPosRankSum=-0.358;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CCDC13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472921 GT:AD:DP:GQ:PL 0/1:2,3:5:63.31:103,0,63
3 42754912 rs3895740 A G 87.72 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.546;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9665;MQ=58.63;MQ0=0;MQRankSum=-0.424;QD=5.16;ReadPosRankSum=-0.788;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CCDC13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000482100 GT:AD:DP:GQ:PL 0/1:12,4:17:99:118,0,448
3 42781276 rs62246603 G T 751.54 PASS AB=0.612;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.889;DB;DP=67;Dels=0.0;FS=23.258;HRun=0;HaplotypeScore=0.0;MQ=59.66;MQ0=0;MQRankSum=-1.061;QD=11.22;ReadPosRankSum=1.306;SNPEFF_AMINO_ACID_CHANGE=L338;SNPEFF_CODON_CHANGE=ctC/ctA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_42781126_42781302;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CCDC13;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000310232 GT:AD:DP:GQ:PL 0/1:41,26:67:99:782,0,1215
3 42781316 rs11709500 G A 480.97 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.047;DB;DP=54;Dels=0.0;FS=2.623;HRun=3;HaplotypeScore=0.0;MQ=59.57;MQ0=0;MQRankSum=1.587;QD=8.91;ReadPosRankSum=-1.606;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CCDC13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310232 GT:AD:DP:GQ:PL 0/1:36,18:54:99:511,0,1044
3 42784216 rs12054446 A G 103.78 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.017;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=12.97;ReadPosRankSum=0.421;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CCDC13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479576 GT:AD:DP:GQ:PL 0/1:4,4:8:99:134,0,146
3 42784630 rs12635736 A G 376.43 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.224;DB;DP=26;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.2;MQ0=0;MQRankSum=-0.19;QD=14.48;ReadPosRankSum=-2.638;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CCDC13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479576 GT:AD:DP:GQ:PL 0/1:13,13:26:99:406,0,416
3 42787469 rs2240859 A G 887.69 PASS AB=0.507;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.975;DB;DP=67;Dels=0.0;FS=4.895;HRun=1;HaplotypeScore=0.9987;MQ=59.03;MQ0=0;MQRankSum=-1.706;QD=13.25;ReadPosRankSum=1.0;SNPEFF_AMINO_ACID_CHANGE=S257;SNPEFF_CODON_CHANGE=tcT/tcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_42787415_42787519;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CCDC13;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000310232 GT:AD:DP:GQ:PL 0/1:34,33:67:99:918,0,984
3 42793337 rs11929390 T C 195.20 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=0.225;DB;DP=14;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.33;MQ0=0;MQRankSum=-0.386;QD=13.94;ReadPosRankSum=-0.193;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CCDC13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310232 GT:AD:DP:GQ:PL 0/1:6,8:14:99:225,0,196
3 42794333 rs55904344 G C 108.16 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.165;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.225;QD=7.73;ReadPosRankSum=0.627;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=HIGD1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000431549 GT:AD:DP:GQ:PL 0/1:6,8:14:99:138,0,214
3 42799554 rs111697736 T TACAC 795.14 PASS AC=2;AF=1.00;AN=2;DB;DP=20;FS=0.0;HRun=0;HaplotypeScore=104.6385;IndelType=I;MQ=53.19;MQ0=0;QD=39.76;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CCDC13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310232 GT:AD:DP:GQ:PL 1/1:9,10:20:39.13:837,39,0
3 42799765 rs17238798 G A 383.02 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=1.306;DB;DP=42;Dels=0.0;FS=1.345;HRun=0;HaplotypeScore=0.0;MQ=58.33;MQ0=0;MQRankSum=-0.949;QD=9.12;ReadPosRankSum=0.261;SNPEFF_AMINO_ACID_CHANGE=R25W;SNPEFF_CODON_CHANGE=Cgg/Tgg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_42799617_42799843;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CCDC13;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000310232 GT:AD:DP:GQ:PL 0/1:27,15:42:99:413,0,837
3 42799858 rs339678 T A 598.98 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.23;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CCDC13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310232 GT:AD:DP:GQ:PL 1/1:0,17:17:48.16:632,48,0
3 42835889 rs6764909 A G 87.24 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.45;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=HIGD1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000321331 GT:AD:DP:GQ:PL 1/1:0,5:5:9.03:119,9,0
3 42917047 rs9865715 A G 1623.92 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.09;SNPEFF_AMINO_ACID_CHANGE=S88P;SNPEFF_CODON_CHANGE=Tcc/Ccc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_42913684_42917633;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYP8B1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000316161 GT:AD:DP:GQ:PL 1/1:0,45:45:99:1657,126,0
3 42954912 rs11129987 C T 92.35 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.922;DB;DP=7;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=56.62;MQ0=0;MQRankSum=0.922;QD=13.19;ReadPosRankSum=-0.922;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF662;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000430067 GT:AD:DP:GQ:PL 0/1:2,5:7:67.24:122,0,67
3 42956273 rs1427801 T C 437.43 PASS AB=0.528;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.074;DB;DP=36;Dels=0.0;FS=7.162;HRun=0;HaplotypeScore=0.0;MQ=59.48;MQ0=0;MQRankSum=-0.412;QD=12.15;ReadPosRankSum=0.824;SNPEFF_AMINO_ACID_CHANGE=I236;SNPEFF_CODON_CHANGE=atT/atC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_42955819_42959133;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF662;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000440367 GT:AD:DP:GQ:PL 0/1:19,17:36:99:467,0,645
3 42956984 rs834579 A G 119.40 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.72;QD=19.9;ReadPosRankSum=1.38;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF662;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000430067 GT:AD:DP:GQ:PL 0/1:2,4:6:61.90:149,0,62
3 43095112 rs184462308 G A 1010.98 PASS AB=0.476;AC=1;AF=0.50;AN=2;BaseQRankSum=3.555;DB;DP=63;Dels=0.0;FS=1.31;HRun=1;HaplotypeScore=0.0;MQ=58.52;MQ0=0;MQRankSum=-0.071;QD=16.05;ReadPosRankSum=1.171;SNPEFF_AMINO_ACID_CHANGE=E35K;SNPEFF_CODON_CHANGE=Gag/Aag;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_43095013_43095135;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=FAM198A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000488863 GT:AD:DP:GQ:PL 0/1:30,33:63:99:1041,0,732
3 43095245 rs2280565 A G 1711.98 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.536;DB;DP=55;Dels=0.0;FS=7.16;HRun=1;HaplotypeScore=1.993;MQ=59.16;MQ0=0;MQRankSum=-0.752;QD=31.13;ReadPosRankSum=0.163;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=FAM198A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000430121 GT:AD:DP:GQ:PL 1/1:1,54:55:99:1745,107,0
3 43097502 rs3732856 C T 51.22 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.61;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=FAM198A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000434206 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
3 43591142 rs12638282 G A 1197.96 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.5661;MQ=59.38;MQ0=0;QD=32.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ANO10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000292246 GT:AD:DP:GQ:PL 1/1:0,37:37:93.28:1231,93,0
3 43592906 rs9829081 T C 639.72 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9469;MQ=60.0;MQ0=0;QD=35.54;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ANO10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000292246 GT:AD:DP:GQ:PL 1/1:0,18:18:51.14:673,51,0
3 43602803 rs3772165 C T 1694.33 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.5226;MQ=60.0;MQ0=0;QD=32.58;SNPEFF_AMINO_ACID_CHANGE=R272Q;SNPEFF_CODON_CHANGE=cGg/cAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_43602712_43602894;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ANO10;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000350459 GT:AD:DP:GQ:PL 1/1:0,52:52:99:1727,129,0
3 43607136 rs7616708 T C 83.15 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.95;MQ0=0;QD=20.79;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ANO10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000292246 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:115,9,0
3 43756577 rs10662733 C CTG 163.67 PASS AB=0.762;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.956;DB;DP=16;FS=0.0;HRun=0;HaplotypeScore=117.5269;IndelType=I;MQ=59.92;MQ0=0;MQRankSum=1.517;QD=10.23;ReadPosRankSum=0.322;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABHD5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000013894 GT:AD:DP:GQ:PL 0/1:11,5:16:46.54:203,0,47
3 44283672 rs9833423 T C 180.36 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.05;MQ0=0;QD=22.54;SNPEFF_AMINO_ACID_CHANGE=C43R;SNPEFF_CODON_CHANGE=Tgc/Cgc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_44283378_44283891;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf77;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000309765 GT:AD:DP:GQ:PL 1/1:0,8:8:18.04:213,18,0
3 44283808 rs7645375 C A 1636.58 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=59.09;MQ0=0;QD=32.09;SNPEFF_AMINO_ACID_CHANGE=P88Q;SNPEFF_CODON_CHANGE=cCg/cAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_44283378_44283891;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf77;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000309765 GT:AD:DP:GQ:PL 1/1:0,50:50:99:1670,126,0
3 44310592 rs5004668 T C 257.46 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.78;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf77;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309765 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:290,21,0
3 44312447 rs11130024 T A 296.06 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.01;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf77;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309765 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:329,24,0
3 44332131 rs11927593 T A 705.53 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.2;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf77;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309765 GT:AD:DP:GQ:PL 1/1:0,28:28:66.18:739,66,0
3 44332176 rs1488637 T C 1603.74 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.45;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf77;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309765 GT:AD:DP:GQ:PL 1/1:0,44:44:99:1637,120,0
3 44332562 rs73088448 C T 283.61 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.51;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf77;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309765 GT:AD:DP:GQ:PL 1/1:0,9:9:24.08:317,24,0
3 44345646 rs1488639 A T 165.12 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.02;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf77;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309765 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:198,15,0
3 44347660 rs11929217 C T 378.43 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.84;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf77;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309765 GT:AD:DP:GQ:PL 1/1:0,10:10:30.10:411,30,0
3 44362408 rs9857957 G A 1135.66 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.49;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf77;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309765 GT:AD:DP:GQ:PL 1/1:0,32:32:87.28:1169,87,0
3 44399668 rs4682970 T C 817.14 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.69;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf23;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342649 GT:AD:DP:GQ:PL 1/1:0,25:25:66.21:850,66,0
3 44408864 rs75970869 G GT 1176.61 PASS AC=2;AF=1.00;AN=2;DB;DP=31;FS=0.0;HRun=3;HaplotypeScore=72.8555;IndelType=I;MQ=59.96;MQ0=0;QD=37.96;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf23;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000444602 GT:AD:DP:GQ:PL 1/1:2,29:31:87.29:1219,87,0
3 44437870 rs6441838 A C 484.88 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=58.45;MQ0=0;QD=32.33;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf23;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342649 GT:AD:DP:GQ:PL 1/1:0,15:15:39.11:518,39,0
3 44540791 rs36046723 TTC T 2114.16 PASS AC=2;AF=1.00;AN=2;DB;DP=56;FS=0.0;HRun=0;HaplotypeScore=214.8945;IndelType=D;MQ=60.27;MQ0=0;QD=37.75;SNPEFF_EFFECT=FRAME_SHIFT;SNPEFF_EXON_ID=exon_3_44540462_44540793;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF852;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000313378 GT:AD:DP:GQ:PL 1/1:1,55:56:99:2156,157,0
3 44607013 rs13081859 T C 5630.62 PASS AC=2;AF=1.00;AN=2;DB;DP=167;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.8134;MQ=59.45;MQ0=0;QD=33.52;SNPEFF_AMINO_ACID_CHANGE=F153S;SNPEFF_CODON_CHANGE=tTt/tCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_44606979_44607147;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF167;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000273320 GT:AD:DP:GQ:PL 1/1:0,166:167:99:5631,433,0
3 44609626 rs6765468 G A 426.04 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=36.97;MQ0=0;QD=30.43;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF167;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273320 GT:AD:DP:GQ:PL 1/1:0,14:14:42.08:459,42,0
3 44610046 rs78534520 T C 891.40 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.76;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF167;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000496563 GT:AD:DP:GQ:PL 1/1:0,23:23:69.21:924,69,0
3 44611896 rs9835485 A G 1873 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.59;MQ0=0;QD=35.34;SNPEFF_AMINO_ACID_CHANGE=T281A;SNPEFF_CODON_CHANGE=Acc/Gcc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_44611417_44612157;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF167;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000447279 GT:AD:DP:GQ:PL 1/1:0,53:53:99:1906,141,0
3 44612050 rs9873604 C T 4407.12 PASS AC=2;AF=1.00;AN=2;DB;DP=122;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.0321;MQ=59.16;MQ0=0;QD=36.12;SNPEFF_AMINO_ACID_CHANGE=T332I;SNPEFF_CODON_CHANGE=aCt/aTt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_44611417_44612157;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF167;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000447279 GT:AD:DP:GQ:PL 1/1:0,122:122:99:4407,325,0
3 44612895 rs2034476 C G 1993.32 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.67;DB;DP=56;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9332;MQ=59.59;MQ0=0;MQRankSum=-1.361;QD=35.6;ReadPosRankSum=-1.237;SNPEFF_AMINO_ACID_CHANGE=N201K;SNPEFF_CODON_CHANGE=aaC/aaG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_44612881_44612904;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF167;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000315777 GT:AD:DP:GQ:PL 1/1:1,55:56:99:2026,153,0
3 44613014 rs2034475 G T 329.76 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.98;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF167;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315777 GT:AD:DP:GQ:PL 1/1:0,11:11:27.09:363,27,0
3 44620719 rs7653558 C T 625.83 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.734;DB;DP=24;Dels=0.0;FS=7.404;HRun=0;HaplotypeScore=0.0;MQ=55.96;MQ0=0;MQRankSum=-0.315;QD=26.08;ReadPosRankSum=0.315;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF167;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341840 GT:AD:DP:GQ:PL 1/1:2,22:24:14.52:659,15,0
3 44620941 rs11707572 C T 907.65 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.39;MQ0=0;QD=31.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF167;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341840 GT:AD:DP:GQ:PL 1/1:0,29:29:78.19:941,78,0
3 44621139 rs4682748 G A 4212.18 PASS AC=2;AF=1.00;AN=2;DB;DP=129;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7987;MQ=59.64;MQ0=0;QD=32.65;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF167;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341840 GT:AD:DP:GQ:PL 1/1:0,129:129:99:4212,319,0
3 44621285 rs6785876 G A 3768.05 PASS AC=2;AF=1.00;AN=2;DB;DP=113;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.18;MQ0=0;QD=33.35;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF167;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341840 GT:AD:DP:GQ:PL 1/1:0,113:113:99:3768,289,0
3 44621326 rs6777333 T C 2447.29 PASS AC=2;AF=1.00;AN=2;DB;DP=77;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.4;MQ0=0;QD=31.78;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF167;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341840 GT:AD:DP:GQ:PL 1/1:0,77:77:99:2480,205,0
3 44621494 rs6779941 T C 1334.37 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9995;MQ=59.44;MQ0=0;QD=32.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF167;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341840 GT:AD:DP:GQ:PL 1/1:0,41:41:99:1367,108,0
3 44621980 rs13074938 C G 761.35 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.38;MQ0=0;QD=29.28;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF167;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341840 GT:AD:DP:GQ:PL 1/1:0,26:26:63.18:794,63,0
3 44622369 rs72860788 G C 3068.84 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.509;DB;DP=95;Dels=0.0;FS=4.179;HRun=0;HaplotypeScore=0.7887;MQ=58.72;MQ0=0;MQRankSum=-0.503;QD=32.3;ReadPosRankSum=0.168;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF167;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341840 GT:AD:DP:GQ:PL 1/1:1,94:95:99:3102,204,0
3 44671217 rs6769283 G T 50.05 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.02;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF197;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000412641 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
3 44671230 rs6769288 G A 50.63 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.32;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF197;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000412641 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
3 44673430 rs28699350 G C 237.68 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.71;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF197;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000412641 GT:AD:DP:GQ:PL 1/1:0,8:8:21.06:271,21,0
3 44869026 rs4682999 A T 1059.51 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.27;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481166 GT:AD:DP:GQ:PL 1/1:0,35:35:93.27:1093,93,0
3 44882509 . G T 90.14 PASS AB=0.706;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.318;DP=17;Dels=0.0;FS=2.884;HRun=0;HaplotypeScore=0.9832;MQ=60.0;MQ0=0;MQRankSum=-0.264;QD=5.3;ReadPosRankSum=-0.264;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326047 GT:AD:DP:GQ:PL 0/1:12,5:17:99:120,0,457
3 44915992 rs7621143 T G 125.31 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.89;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=TGM4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296125 GT:AD:DP:GQ:PL 1/1:0,6:6:12.04:158,12,0
3 44935445 rs75478854 C T 51.76 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=41.96;MQ0=0;QD=17.25;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=TGM4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000490928 GT:AD:DP:GQ:PL 1/1:0,3:3:9:84,9,0
3 44935446 rs58117421 A G 51.76 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=41.96;MQ0=0;QD=17.25;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=TGM4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000490928 GT:AD:DP:GQ:PL 1/1:0,3:3:9:84,9,0
3 44943069 rs1995640 C T 559.58 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.71;MQ0=0;QD=31.09;SNPEFF_AMINO_ACID_CHANGE=Y237;SNPEFF_CODON_CHANGE=taC/taT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_44943016_44943190;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=TGM4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000296125 GT:AD:DP:GQ:PL 1/1:0,18:18:45.14:593,45,0
3 44943389 rs1995641 G A 2021.29 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9665;MQ=59.63;MQ0=0;QD=32.6;SNPEFF_AMINO_ACID_CHANGE=E313K;SNPEFF_CODON_CHANGE=Gag/Aag;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_44943285_44943423;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=TGM4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000296125 GT:AD:DP:GQ:PL 1/1:0,62:62:99:2054,153,0
3 44959725 rs10576157 CG C 108.76 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=0.747;DB;DP=10;FS=0.0;HRun=11;HaplotypeScore=40.3608;IndelType=D;MQ=53.87;MQ0=0;MQRankSum=-0.747;QD=10.88;ReadPosRankSum=-0.747;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=TGM4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296125 GT:AD:DP:GQ:PL 0/1:2,7:10:8.03:147,0,8
3 44974273 rs34991103 AAAAC A 1240.88 PASS AC=2;AF=1.00;AN=2;DB;DP=23;FS=0.0;HRun=0;HaplotypeScore=121.1345;IndelType=D;MQ=51.32;MQ0=0;QD=53.95;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZDHHC3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000455235 GT:AD:DP:GQ:PL 1/1:0,23:23:69.23:1283,69,0
3 45127515 rs9874077 T C 4191.69 PASS AC=2;AF=1.00;AN=2;DB;DP=129;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.734;MQ=59.46;MQ0=0;QD=32.49;SNPEFF_AMINO_ACID_CHANGE=D709G;SNPEFF_CODON_CHANGE=gAc/gGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_45123770_45127559;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDCP1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000296129 GT:AD:DP:GQ:PL 1/1:0,129:129:99:4192,310,0
3 45132577 rs6791801 A T 419.84 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.99;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDCP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296129 GT:AD:DP:GQ:PL 1/1:0,12:12:36.11:453,36,0
3 45132637 rs1879240 T C 702.37 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.734;MQ=60.0;MQ0=0;QD=33.45;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDCP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296129 GT:AD:DP:GQ:PL 1/1:0,21:21:54.18:735,54,0
3 45137087 rs2037358 T G 492.31 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.62;MQ0=0;QD=35.16;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDCP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296129 GT:AD:DP:GQ:PL 1/1:0,14:14:42.12:525,42,0
3 45153422 rs6778556 A G 131.08 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.198;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.495;QD=18.73;ReadPosRankSum=-1.495;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDCP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000490471 GT:AD:DP:GQ:PL 0/1:2,5:7:55.05:161,0,55
3 45154080 rs6779301 A G 535.79 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.49;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDCP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296129 GT:AD:DP:GQ:PL 1/1:0,16:16:42.14:569,42,0
3 45159734 rs4683048 G C 51.22 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.61;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDCP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296129 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
3 45160011 . T C 1009.37 PASS AB=0.437;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.193;DP=71;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.68;MQ0=0;MQRankSum=-0.184;QD=14.22;ReadPosRankSum=-0.564;SNPEFF_AMINO_ACID_CHANGE=K62R;SNPEFF_CODON_CHANGE=aAa/aGa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_45159904_45160113;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDCP1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000296129 GT:AD:DP:GQ:PL 0/1:31,40:71:99:1039,0,880
3 45187671 rs1863837 C T 70.12 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.231;QD=14.02;ReadPosRankSum=-0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDCP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296129 GT:AD:DP:GQ:PL 0/1:2,3:5:63.69:100,0,64
3 45266555 rs33749 T C 165.17 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.53;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM158;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000503771 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:198,15,0
3 45461102 rs11383389 G GT 1608.95 PASS AC=2;AF=1.00;AN=2;DB;DP=39;FS=0.0;HRun=2;HaplotypeScore=83.6414;IndelType=I;MQ=60.28;MQ0=0;QD=41.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LARS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265537 GT:AD:DP:GQ:PL 1/1:0,38:39:99:1651,117,0
3 45500174 rs745551 C A 642.52 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9999;MQ=58.71;MQ0=0;QD=35.7;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LARS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265537 GT:AD:DP:GQ:PL 1/1:0,18:18:51.16:676,51,0
3 45517799 rs3733117 T C 698.78 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=1.718;DB;DP=45;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.284;QD=15.53;ReadPosRankSum=-0.08;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LARS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265537 GT:AD:DP:GQ:PL 0/1:21,24:45:99:729,0,731
3 45527099 rs7640603 C G 1391.62 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.38;MQ0=0;QD=37.61;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LARS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265537 GT:AD:DP:GQ:PL 1/1:0,37:37:99:1425,108,0
3 45527218 rs7610357 T C 2044.38 PASS AB=0.474;AC=1;AF=0.50;AN=2;BaseQRankSum=1.082;DB;DP=135;Dels=0.0;FS=2.185;HRun=0;HaplotypeScore=2.6516;MQ=59.83;MQ0=0;MQRankSum=-1.324;QD=15.14;ReadPosRankSum=-0.972;SNPEFF_AMINO_ACID_CHANGE=L308;SNPEFF_CODON_CHANGE=ctT/ctC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_45527184_45527288;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LARS2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000414984 GT:AD:DP:GQ:PL 0/1:64,71:135:99:2074,0,1880
3 45533224 rs2128361 G A 657.69 PASS AB=0.477;AC=1;AF=0.50;AN=2;BaseQRankSum=1.376;DB;DP=45;Dels=0.0;FS=8.856;HRun=0;HaplotypeScore=0.0;MQ=59.07;MQ0=0;MQRankSum=-1.084;QD=14.62;ReadPosRankSum=1.571;SNPEFF_AMINO_ACID_CHANGE=A442;SNPEFF_CODON_CHANGE=gcG/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_45533009_45533292;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LARS2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000414984 GT:AD:DP:GQ:PL 0/1:21,23:45:99:688,0,583
3 45537973 rs12638088 C T 719.47 PASS AB=0.576;AC=1;AF=0.50;AN=2;BaseQRankSum=3.091;DB;DP=59;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9983;MQ=59.29;MQ0=0;MQRankSum=-0.192;QD=12.19;ReadPosRankSum=-1.143;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LARS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265537 GT:AD:DP:GQ:PL 0/1:34,25:59:99:749,0,1189
3 45557707 rs11549809 G A 784.62 PASS AB=0.585;AC=1;AF=0.50;AN=2;BaseQRankSum=2.053;DB;DP=65;Dels=0.0;FS=2.145;HRun=1;HaplotypeScore=1.9577;MQ=59.57;MQ0=0;MQRankSum=0.748;QD=12.07;ReadPosRankSum=1.509;SNPEFF_AMINO_ACID_CHANGE=T618;SNPEFF_CODON_CHANGE=acG/acA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_45557586_45557768;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LARS2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000414984 GT:AD:DP:GQ:PL 0/1:38,27:65:99:815,0,1099
3 45559519 rs2170549 T C 1369.01 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.39;SNPEFF_AMINO_ACID_CHANGE=A680;SNPEFF_CODON_CHANGE=gcT/gcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_45559395_45559564;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LARS2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000414984 GT:AD:DP:GQ:PL 1/1:0,41:41:99:1402,114,0
3 45559621 rs2276860 C T 326.64 PASS AB=0.316;AC=1;AF=0.50;AN=2;BaseQRankSum=0.307;DB;DP=19;Dels=0.0;FS=2.539;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.447;QD=17.19;ReadPosRankSum=-1.798;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LARS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265537 GT:AD:DP:GQ:PL 0/1:6,13:19:99:357,0,198
3 45565439 rs76190197 G A 389.97 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=3.543;DB;DP=24;Dels=0.0;FS=3.074;HRun=0;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=2.02;QD=16.25;ReadPosRankSum=-1.259;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LARS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265537 GT:AD:DP:GQ:PL 0/1:10,14:24:99:420,0,287
3 45565554 rs267220 A G 1674.05 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=59.57;MQ0=0;QD=31.0;SNPEFF_AMINO_ACID_CHANGE=V743;SNPEFF_CODON_CHANGE=gtA/gtG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_45565489_45565600;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LARS2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000414984 GT:AD:DP:GQ:PL 1/1:0,54:54:99:1707,123,0
3 45583297 rs34191038 C T 403.34 PASS AB=0.568;AC=1;AF=0.50;AN=2;BaseQRankSum=1.487;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9578;MQ=60.0;MQ0=0;MQRankSum=0.322;QD=10.9;ReadPosRankSum=-0.322;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LARS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467936 GT:AD:DP:GQ:PL 0/1:21,16:37:99:433,0,635
3 45636335 rs267238 A G 97.79 PASS AB=0.458;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.115;DB;DP=24;Dels=0.0;FS=2.199;HRun=0;HaplotypeScore=0.0;MQ=51.77;MQ0=0;MQRankSum=-0.702;QD=4.07;ReadPosRankSum=-0.041;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=LIMD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465039 GT:AD:DP:GQ:PL 0/1:11,13:24:99:128,0,238
3 45637253 rs267237 C T 2173.21 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.96;SNPEFF_AMINO_ACID_CHANGE=T294;SNPEFF_CODON_CHANGE=acC/acT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_45636351_45637779;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=LIMD1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000273317 GT:AD:DP:GQ:PL 1/1:0,64:64:99:2206,166,0
3 45637439 rs267236 T C 1085.23 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9578;MQ=59.43;MQ0=0;QD=32.89;SNPEFF_AMINO_ACID_CHANGE=G356;SNPEFF_CODON_CHANGE=ggT/ggC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_45636351_45637779;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=LIMD1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000273317 GT:AD:DP:GQ:PL 1/1:0,33:33:84.24:1118,84,0
3 45677635 rs5848761 C CT 6466.56 PASS AC=2;AF=1.00;AN=2;DB;DP=147;FS=0.0;HRun=1;HaplotypeScore=948.7324;IndelType=I;MQ=51.27;MQ0=0;QD=43.99;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=LIMD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273317 GT:AD:DP:GQ:PL 1/1:106,41:147:99:6467,439,0
3 45677638 rs5848762 CA C 5524.51 PASS AC=2;AF=1.00;AN=2;DB;DP=144;FS=0.0;HRun=2;HaplotypeScore=1016.9839;IndelType=D;MQ=51.52;MQ0=0;QD=38.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=LIMD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273317 GT:AD:DP:GQ:PL 1/1:98,46:144:99:5525,433,0
3 45677815 rs34309138 G GAGA 509.49 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.66;DB;DP=24;FS=0.0;HRun=0;HaplotypeScore=81.815;IndelType=I;MQ=43.94;MQ0=0;MQRankSum=1.317;QD=20.38;ReadPosRankSum=-0.498;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=LIMD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273317 GT:AD:DP:GQ:PL 0/1:15,9:24:99:549,0,628
3 45715159 rs35737275 CT C 354.17 PASS AC=2;AF=1.00;AN=2;DB;DP=11;FS=0.0;HRun=4;HaplotypeScore=33.9701;IndelType=D;MQ=60.0;MQ0=0;QD=32.2;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=LIMD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465039 GT:AD:DP:GQ:PL 1/1:0,11:11:33.10:396,33,0
3 45715769 rs74858541 T C 105.73 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=1.881;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.159;QD=11.75;ReadPosRankSum=-1.307;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=LIMD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000440097 GT:AD:DP:GQ:PL 0/1:5,4:9:99:136,0,152
3 45718327 rs7640969 T G 738.50 PASS AB=0.484;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.378;DB;DP=64;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.05;MQ0=0;MQRankSum=0.887;QD=11.54;ReadPosRankSum=0.873;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=LIMD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000440097 GT:AD:DP:GQ:PL 0/1:31,33:64:99:768,0,1002
3 45748429 rs2742441 G A 426.92 PASS AB=0.568;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.713;DB;DP=37;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.077;QD=11.54;ReadPosRankSum=-0.077;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SACM1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389061 GT:AD:DP:GQ:PL 0/1:21,16:37:99:457,0,694
3 45748435 rs2673039 A G 370.45 PASS AB=0.576;AC=1;AF=0.50;AN=2;BaseQRankSum=0.164;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.455;QD=11.23;ReadPosRankSum=0.127;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SACM1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389061 GT:AD:DP:GQ:PL 0/1:19,14:33:99:400,0,620
3 45754749 rs2248991 G A 335.96 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.955;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.197;QD=15.27;ReadPosRankSum=0.657;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SACM1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000438671 GT:AD:DP:GQ:PL 0/1:11,11:22:99:366,0,393
3 45761115 rs2064062 G C 560.04 PASS AB=0.438;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.741;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=-0.171;QD=17.5;ReadPosRankSum=1.728;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SACM1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463659 GT:AD:DP:GQ:PL 0/1:14,18:32:99:590,0,446
3 45763635 rs2673062 A G 89.77 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=1.88;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.88;QD=5.61;ReadPosRankSum=1.758;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SACM1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463659 GT:AD:DP:GQ:PL 0/1:12,4:16:99:120,0,446
3 45764497 rs77926264 G A 529.12 PASS AB=0.387;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.318;DB;DP=31;Dels=0.0;FS=2.051;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.223;QD=17.07;ReadPosRankSum=-0.547;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SACM1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463659 GT:AD:DP:GQ:PL 0/1:12,19:31:99:559,0,410
3 45764544 rs2742449 T C 344.85 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.419;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.421;QD=19.16;ReadPosRankSum=-0.796;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SACM1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463659 GT:AD:DP:GQ:PL 0/1:6,12:18:99:375,0,198
3 45772742 rs2531755 T C 112.44 PASS AB=0.722;AC=1;AF=0.50;AN=2;BaseQRankSum=0.591;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.789;QD=6.25;ReadPosRankSum=-0.197;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SACM1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389061 GT:AD:DP:GQ:PL 0/1:13,5:18:99:142,0,479
3 45772772 rs2673055 G A 258.38 PASS AB=0.63;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.485;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.28;QD=9.57;ReadPosRankSum=-1.029;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SACM1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389061 GT:AD:DP:GQ:PL 0/1:17,10:27:99:288,0,591
3 45773732 rs11709306 G A 173.78 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.378;DB;DP=12;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=14.48;ReadPosRankSum=-0.583;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SACM1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389061 GT:AD:DP:GQ:PL 0/1:6,6:12:99:204,0,212
3 45776875 rs35082575 CT C 33.20 QDFilter2 AB=0.829;AC=1;AF=0.50;AN=2;BaseQRankSum=1.024;DB;DP=34;FS=2.634;HRun=13;HaplotypeScore=174.2005;IndelType=D;MQ=59.64;MQ0=0;MQRankSum=-0.858;QD=0.98;ReadPosRankSum=0.636;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SACM1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389061 GT:AD:DP:GQ:PL 0/1:27,7:34:72.22:72,0,497
3 45776900 rs1468543 A G 333.07 PASS AB=0.594;AC=1;AF=0.50;AN=2;BaseQRankSum=1.261;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.1992;MQ=58.55;MQ0=0;MQRankSum=-0.62;QD=10.41;ReadPosRankSum=-1.181;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SACM1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389061 GT:AD:DP:GQ:PL 0/1:19,13:32:99:363,0,603
3 45779136 rs1468542 A T 670.80 PASS AB=0.662;AC=1;AF=0.50;AN=2;BaseQRankSum=2.255;DB;DP=71;Dels=0.0;FS=0.982;HRun=3;HaplotypeScore=0.9332;MQ=59.68;MQ0=0;MQRankSum=0.456;QD=9.45;ReadPosRankSum=0.808;SNPEFF_AMINO_ACID_CHANGE=Y111F;SNPEFF_CODON_CHANGE=tAc/tTc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_45779075_45779144;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SACM1L;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000433336 GT:AD:DP:GQ:PL 0/1:47,24:71:99:701,0,1376
3 45779943 rs1962800 G A 37.95 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=7.59;ReadPosRankSum=1.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SACM1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389061 GT:AD:DP:GQ:PL 0/1:3,2:5:67.94:68,0,104
3 45781380 rs13059502 A G 83.72 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=20.93;ReadPosRankSum=0.727;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SACM1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000433336 GT:AD:DP:GQ:PL 0/1:1,3:4:29.72:114,0,30
3 45784963 rs9821974 T C 675.05 PASS AB=0.52;AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DB;DP=50;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.89;MQ0=0;MQRankSum=0.651;QD=13.5;ReadPosRankSum=0.631;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SACM1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000433336 GT:AD:DP:GQ:PL 0/1:26,24:50:99:705,0,862
3 45784972 rs145354500 GGT G 1178.23 PASS AB=0.647;AC=1;AF=0.50;AN=2;BaseQRankSum=5.906;DB;DP=54;FS=0.0;HRun=0;HaplotypeScore=265.5807;IndelType=D;MQ=59.16;MQ0=1;MQRankSum=0.313;QD=21.42;ReadPosRankSum=-0.902;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SACM1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000433336 GT:AD:DP:GQ:PL 0/1:25,30:54:99:1217,0,1289
3 45811885 rs41289606 C T 400.47 PASS AB=0.448;AC=1;AF=0.50;AN=2;BaseQRankSum=3.793;DB;DP=29;Dels=0.0;FS=2.176;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.153;QD=13.81;ReadPosRankSum=-2.609;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC6A20;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000413781 GT:AD:DP:GQ:PL 0/1:13,16:29:99:430,0,374
3 45813025 rs758387 A G 180.97 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.529;DB;DP=13;Dels=0.0;FS=3.282;HRun=1;HaplotypeScore=0.0;MQ=58.2;MQ0=0;MQRankSum=-0.689;QD=13.92;ReadPosRankSum=-0.831;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC6A20;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000353278 GT:AD:DP:GQ:PL 0/1:6,7:13:99:211,0,178
3 45813993 rs2276858 G A 168.39 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=0.421;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9469;MQ=60.0;MQ0=0;MQRankSum=0.068;QD=11.23;ReadPosRankSum=-0.299;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC6A20;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000353278 GT:AD:DP:GQ:PL 0/1:8,7:15:99:198,0,195
3 45817418 rs758386 A G 2218.94 PASS AC=2;AF=1.00;AN=2;DB;DP=70;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.7332;MQ=58.8;MQ0=0;QD=31.7;SNPEFF_AMINO_ACID_CHANGE=C139;SNPEFF_CODON_CHANGE=tgT/tgC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_45817253_45817480;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC6A20;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000353278 GT:AD:DP:GQ:PL 1/1:0,70:70:99:2252,174,0
3 45821624 rs2252547 T C 127.15 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.43;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC6A20;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000353278 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:160,12,0
3 45965386 rs2248228 G A 159.87 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.21;MQ0=0;QD=31.97;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FYCO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296137 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:193,15,0
3 45977866 rs4535265 C T 1508.06 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.44;MQ0=0;QD=36.78;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FYCO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296137 GT:AD:DP:GQ:PL 1/1:0,41:41:99:1541,120,0
3 45977899 rs1873002 T C 2211.23 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.34;MQ0=0;QD=35.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FYCO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296137 GT:AD:DP:GQ:PL 1/1:0,63:63:99:2244,169,0
3 45989044 rs2234358 T G 906.79 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.27;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CXCR6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000457814 GT:AD:DP:GQ:PL 1/1:0,25:25:69.22:940,69,0
3 45996761 rs1463680 G A 4055.03 PASS AC=2;AF=1.00;AN=2;DB;DP=112;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8941;MQ=59.63;MQ0=0;QD=36.21;SNPEFF_AMINO_ACID_CHANGE=L1308;SNPEFF_CODON_CHANGE=ctC/ctT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_45996741_45996885;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FYCO1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000296137 GT:AD:DP:GQ:PL 1/1:0,112:112:99:4055,304,0
3 46001063 rs1532071 G A 529.87 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.12;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FYCO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296137 GT:AD:DP:GQ:PL 1/1:0,16:16:42.14:563,42,0
3 46006158 rs12630101 A G 52.75 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FYCO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296137 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
3 46007702 rs1994490 T C 675.52 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FYCO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296137 GT:AD:DP:GQ:PL 1/1:0,19:19:54.18:709,54,0
3 46008790 rs3796375 G A 2511.16 PASS AC=2;AF=1.00;AN=2;DB;DP=79;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.71;MQ0=0;QD=31.79;SNPEFF_AMINO_ACID_CHANGE=A679V;SNPEFF_CODON_CHANGE=gCg/gTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_46007769_46010195;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FYCO1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000296137 GT:AD:DP:GQ:PL 1/1:0,79:79:99:2544,202,0
3 46009864 rs3733100 C G 1605.41 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.06;MQ0=0;QD=29.73;SNPEFF_AMINO_ACID_CHANGE=G321A;SNPEFF_CODON_CHANGE=gGc/gCc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_46007769_46010195;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FYCO1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000296137 GT:AD:DP:GQ:PL 1/1:0,54:54:99:1638,135,0
3 46010077 rs4683158 C T 1788.76 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.55;MQ0=0;QD=35.07;SNPEFF_AMINO_ACID_CHANGE=R250Q;SNPEFF_CODON_CHANGE=cGg/cAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_46007769_46010195;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FYCO1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000296137 GT:AD:DP:GQ:PL 1/1:0,51:51:99:1822,135,0
3 46016464 rs12639598 G A 49.99 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FYCO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296137 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
3 46016599 rs3821884 T G 538.63 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FYCO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296137 GT:AD:DP:GQ:PL 1/1:0,15:15:45.11:572,45,0
3 46016851 rs751552 A T 1122.31 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.32;MQ0=0;QD=33.01;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FYCO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296137 GT:AD:DP:GQ:PL 1/1:0,34:34:87.28:1155,87,0
3 46016944 rs751553 C T 234.93 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.56;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FYCO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296137 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:268,21,0
3 46021218 rs4682801 G T 2206.02 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=59.65;MQ0=0;QD=33.94;SNPEFF_AMINO_ACID_CHANGE=R89;SNPEFF_CODON_CHANGE=cgC/cgA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_46021197_46021322;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FYCO1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000296137 GT:AD:DP:GQ:PL 1/1:0,65:65:99:2239,166,0
3 46026259 rs3733097 G A 684.36 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.02;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FYCO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296137 GT:AD:DP:GQ:PL 1/1:0,19:19:54.18:717,54,0
3 46399798 rs1799865 T C 5279.33 PASS AC=2;AF=1.00;AN=2;DB;DP=149;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.7986;MQ=60.0;MQ0=0;QD=35.43;SNPEFF_AMINO_ACID_CHANGE=N260;SNPEFF_CODON_CHANGE=aaT/aaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_46398968_46399959;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCR2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000292301 GT:AD:DP:GQ:PL 1/1:0,149:149:99:5279,388,0
3 46401032 rs3138042 A G 84.34 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.09;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421659 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:116,9,0
3 46449978 rs11266744 A C 2203.41 PASS AC=2;AF=1.00;AN=2;DB;DP=70;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.54;MQ0=0;QD=31.48;SNPEFF_AMINO_ACID_CHANGE=G136;SNPEFF_CODON_CHANGE=ggA/ggC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_46449559_46451014;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCRL2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000399036 GT:AD:DP:GQ:PL 1/1:0,70:70:99:2236,172,0
3 46450070 rs3204849 T A 2187.51 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9734;MQ=59.5;MQ0=0;QD=33.65;SNPEFF_AMINO_ACID_CHANGE=F167Y;SNPEFF_CODON_CHANGE=tTc/tAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_46449559_46451014;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCRL2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000399036 GT:AD:DP:GQ:PL 1/1:0,65:65:99:2221,169,0
3 46479668 rs3213479 A G 1328.21 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.89;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LTF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000231751 GT:AD:DP:GQ:PL 1/1:0,36:36:99:1361,99,0
3 46479830 rs3213480 G A 89.16 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.29;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LTF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000231751 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:121,9,0
3 46480958 rs2073495 C G 1420.47 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=58.33;MQ0=0;QD=33.82;SNPEFF_AMINO_ACID_CHANGE=E535D;SNPEFF_CODON_CHANGE=gaG/gaC;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_46480787_46480971;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LTF;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000426532 GT:AD:DP:GQ:PL 1/1:0,42:42:99:1453,108,0
3 46482980 rs17285324 A T 659.57 PASS AB=0.419;AC=1;AF=0.50;AN=2;BaseQRankSum=1.194;DB;DP=43;Dels=0.0;FS=1.543;HRun=1;HaplotypeScore=0.5784;MQ=59.46;MQ0=0;MQRankSum=0.431;QD=15.34;ReadPosRankSum=-0.455;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LTF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000231751 GT:AD:DP:GQ:PL 0/1:18,25:43:99:690,0,555
3 46484898 rs7615975 T G 1280.82 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=0.245;DB;DP=84;Dels=0.0;FS=6.751;HRun=1;HaplotypeScore=2.8853;MQ=58.89;MQ0=0;MQRankSum=0.106;QD=15.25;ReadPosRankSum=0.042;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LTF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443743 GT:AD:DP:GQ:PL 0/1:35,49:84:99:1311,0,925
3 46484964 rs1042073 G A 1843.74 PASS AB=0.468;AC=1;AF=0.50;AN=2;BaseQRankSum=1.628;DB;DP=110;Dels=0.0;FS=2.529;HRun=0;HaplotypeScore=0.7887;MQ=59.54;MQ0=0;MQRankSum=0.376;QD=16.76;ReadPosRankSum=0.562;SNPEFF_AMINO_ACID_CHANGE=N497;SNPEFF_CODON_CHANGE=aaC/aaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_46484932_46485073;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LTF;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000426532 GT:AD:DP:GQ:PL 0/1:51,58:110:99:1874,0,1477
3 46487003 rs2269435 A G 146.74 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=0.101;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9979;MQ=56.35;MQ0=0;MQRankSum=0.555;QD=11.29;ReadPosRankSum=-0.935;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LTF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443743 GT:AD:DP:GQ:PL 0/1:6,7:13:99:177,0,155
3 46488854 rs2239692 T C 1420.29 PASS AB=0.473;AC=1;AF=0.50;AN=2;BaseQRankSum=2.113;DB;DP=93;Dels=0.0;FS=2.697;HRun=2;HaplotypeScore=2.5015;MQ=60.0;MQ0=0;MQRankSum=0.172;QD=15.27;ReadPosRankSum=-1.769;SNPEFF_AMINO_ACID_CHANGE=G372;SNPEFF_CODON_CHANGE=ggA/ggG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_46488799_46488889;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LTF;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000426532 GT:AD:DP:GQ:PL 0/1:44,49:93:99:1450,0,1278
3 46489015 rs743659 A G 290.76 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.412;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.002;QD=19.38;ReadPosRankSum=-0.884;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LTF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000231751 GT:AD:DP:GQ:PL 0/1:6,9:15:99:321,0,202
3 46490366 rs2230895 G A 277.62 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=1.672;DB;DP=26;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.2;MQ0=0;MQRankSum=0.54;QD=10.68;ReadPosRankSum=-0.694;SNPEFF_AMINO_ACID_CHANGE=I356;SNPEFF_CODON_CHANGE=atC/atT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_46490354_46490508;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LTF;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000426532 GT:AD:DP:GQ:PL 0/1:14,12:26:99:308,0,351
3 46490474 rs2230894 G A 203.17 PASS AB=0.55;AC=1;AF=0.50;AN=2;BaseQRankSum=0.914;DB;DP=20;Dels=0.0;FS=2.081;HRun=1;HaplotypeScore=0.0;MQ=57.66;MQ0=0;MQRankSum=0.529;QD=10.16;ReadPosRankSum=-0.048;SNPEFF_AMINO_ACID_CHANGE=V320;SNPEFF_CODON_CHANGE=gtC/gtT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_46490354_46490508;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LTF;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000426532 GT:AD:DP:GQ:PL 0/1:11,9:20:99:233,0,187
3 46491948 rs6774882 T A 95.66 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=1.0;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.529;QD=7.97;ReadPosRankSum=0.689;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LTF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000431944 GT:AD:DP:GQ:PL 0/1:7,5:12:99:126,0,247
3 46495716 rs17135 C T 1239.57 PASS AB=0.457;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.543;DB;DP=70;Dels=0.0;FS=2.335;HRun=1;HaplotypeScore=1.9893;MQ=60.0;MQ0=0;MQRankSum=1.008;QD=17.71;ReadPosRankSum=0.902;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LTF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000415180 GT:AD:DP:GQ:PL 0/1:32,38:70:99:1270,0,1077
3 46496642 rs6776621 C G 34.60 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.55;QD=4.33;ReadPosRankSum=-0.937;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LTF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000415180 GT:AD:DP:GQ:PL 0/1:5,3:8:64.59:65,0,142
3 46497675 rs3796377 A G 104.37 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.001;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9996;MQ=57.39;MQ0=0;MQRankSum=-0.248;QD=11.6;ReadPosRankSum=-0.248;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LTF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000498301 GT:AD:DP:GQ:PL 0/1:3,6:9:98.90:134,0,99
3 46497723 rs4683227 C G 258.42 PASS AB=0.357;AC=1;AF=0.50;AN=2;BaseQRankSum=0.817;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.62;MQ0=0;MQRankSum=-1.545;QD=18.46;ReadPosRankSum=0.533;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LTF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000498301 GT:AD:DP:GQ:PL 0/1:5,9:14:99:288,0,157
3 46501100 rs17078878 C A 177.53 PASS AB=0.652;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.421;DB;DP=23;Dels=0.0;FS=2.066;HRun=0;HaplotypeScore=0.0;MQ=58.99;MQ0=0;MQRankSum=0.355;QD=7.72;ReadPosRankSum=-1.517;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LTF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000498301 GT:AD:DP:GQ:PL 0/1:15,8:23:99:208,0,541
3 46501213 rs1126478 T C 311.74 PASS AB=0.567;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.091;DB;DP=30;Dels=0.0;FS=1.536;HRun=0;HaplotypeScore=0.0;MQ=57.23;MQ0=0;MQRankSum=0.162;QD=10.39;ReadPosRankSum=0.72;SNPEFF_AMINO_ACID_CHANGE=K34R;SNPEFF_CODON_CHANGE=aAa/aGa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_46501146_46501309;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LTF;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000443496 GT:AD:DP:GQ:PL 0/1:17,13:30:99:342,0,469
3 46501268 rs1126477 C T 287.94 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=0.954;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7608;MQ=55.49;MQ0=0;MQRankSum=-0.716;QD=12.0;ReadPosRankSum=-0.119;SNPEFF_AMINO_ACID_CHANGE=A16T;SNPEFF_CODON_CHANGE=Gcc/Acc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_46501146_46501309;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LTF;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000443496 GT:AD:DP:GQ:PL 0/1:9,15:24:99:318,0,221
3 46501284 rs10662431 C CCTT 1517.94 PASS AC=2;AF=1.00;AN=2;DB;DP=25;FS=0.0;HRun=0;HaplotypeScore=126.1685;IndelType=I;MQ=54.68;MQ0=0;QD=60.72;SNPEFF_AMINO_ACID_CHANGE=R10KG;SNPEFF_CODON_CHANGE=agg/aAAGgg;SNPEFF_EFFECT=CODON_CHANGE_PLUS_CODON_INSERTION;SNPEFF_EXON_ID=exon_3_46501146_46501309;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LTF;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000443496 GT:AD:DP:GQ:PL 1/1:2,23:25:69.24:1560,69,0
3 46509712 rs72900270 A G 702.03 PASS AB=0.491;AC=1;AF=0.50;AN=2;BaseQRankSum=0.513;DB;DP=53;Dels=0.0;FS=5.825;HRun=0;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=-1.044;QD=13.25;ReadPosRankSum=0.769;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LTF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443496 GT:AD:DP:GQ:PL 0/1:26,27:53:99:732,0,651
3 46539480 rs4683241 A T 91.14 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.929;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.54;QD=6.51;ReadPosRankSum=1.003;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_3_46538981_46539707;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RTP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296142 GT:AD:DP:GQ:PL 0/1:10,4:14:99:121,0,334
3 46539864 rs11130092 C T 118.46 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=1.38;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=16.92;ReadPosRankSum=0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RTP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296142 GT:AD:DP:GQ:PL 0/1:3,4:7:49.73:148,0,50
3 46580324 rs7651745 G A 89.26 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.75;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296144 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:121,9,0
3 46593147 rs1879325 A G 362.54 PASS AB=0.458;AC=1;AF=0.50;AN=2;BaseQRankSum=1.622;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.05;MQ0=0;MQRankSum=-0.985;QD=15.11;ReadPosRankSum=-1.159;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296144 GT:AD:DP:GQ:PL 0/1:11,13:24:99:393,0,364
3 46621123 rs9819070 A T 1747.72 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.95;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC104304.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296145 GT:AD:DP:GQ:PL 1/1:0,50:50:99:1781,141,0
3 46713102 rs6776565 C T 291.83 PASS AB=0.522;AC=1;AF=0.50;AN=2;BaseQRankSum=2.007;DB;DP=23;Dels=0.0;FS=2.35;HRun=0;HaplotypeScore=3.5611;MQ=57.97;MQ0=0;MQRankSum=-1.936;QD=12.69;ReadPosRankSum=1.303;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ALS2CL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318962 GT:AD:DP:GQ:PL 0/1:12,11:23:99:322,0,252
3 46713457 rs7625303 C G 158.42 PASS AB=0.725;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.09;DB;DP=40;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=3.96;ReadPosRankSum=-0.545;SNPEFF_AMINO_ACID_CHANGE=T214;SNPEFF_CODON_CHANGE=acG/acC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_46713374_46713523;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ALS2CL;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000383742 GT:AD:DP:GQ:PL 0/1:29,11:40:99:188,0,978
3 46713764 rs61277784 G A 32.11 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.406;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.04;MQ0=0;MQRankSum=-0.406;QD=5.35;ReadPosRankSum=0.406;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ALS2CL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318962 GT:AD:DP:GQ:PL 0/1:3,3:6:62.10:62,0,105
3 46714797 rs11130103 C T 112.91 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.731;QD=22.58;ReadPosRankSum=-0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ALS2CL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318962 GT:AD:DP:GQ:PL 0/1:1,4:5:26.18:143,0,26
3 46714821 rs11130104 C G 93.96 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.731;QD=18.79;ReadPosRankSum=0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ALS2CL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318962 GT:AD:DP:GQ:PL 0/1:1,4:5:27.19:124,0,27
3 46717065 rs7635360 C G 343.01 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.917;DB;DP=35;Dels=0.0;FS=1.672;HRun=0;HaplotypeScore=1.8401;MQ=59.47;MQ0=0;MQRankSum=1.15;QD=9.8;ReadPosRankSum=0.483;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ALS2CL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318962 GT:AD:DP:GQ:PL 0/1:20,15:35:99:373,0,695
3 46717931 rs6808525 T C 482.12 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ALS2CL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318962 GT:AD:DP:GQ:PL 1/1:0,17:17:45.10:515,45,0
3 46717957 rs9876451 A G 380.60 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.6;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ALS2CL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318962 GT:AD:DP:GQ:PL 1/1:0,11:11:30.10:414,30,0
3 46718298 rs6806400 A G 995.27 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.9;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ALS2CL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318962 GT:AD:DP:GQ:PL 1/1:0,37:37:87.19:1028,87,0
3 46722692 rs13080080 G T 2816.12 PASS AC=2;AF=1.00;AN=2;DB;DP=86;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.9688;MQ=59.51;MQ0=0;QD=32.75;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ALS2CL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318962 GT:AD:DP:GQ:PL 1/1:0,86:86:99:2849,214,0
3 46723551 rs4683310 G A 91.14 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.077;DB;DP=20;Dels=0.0;FS=8.495;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=-0.328;QD=4.56;ReadPosRankSum=-1.545;SNPEFF_AMINO_ACID_CHANGE=H381;SNPEFF_CODON_CHANGE=caC/caT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_46723519_46723584;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ALS2CL;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000318962 GT:AD:DP:GQ:PL 0/1:12,8:20:99:121,0,430
3 46724548 rs9847395 C T 136.54 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.922;DB;DP=7;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.922;QD=19.51;ReadPosRankSum=0.198;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ALS2CL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318962 GT:AD:DP:GQ:PL 0/1:2,5:7:60.89:167,0,61
3 46724569 rs9847407 C T 175.31 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.143;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.143;QD=14.61;ReadPosRankSum=1.932;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ALS2CL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318962 GT:AD:DP:GQ:PL 0/1:6,6:12:99:205,0,166
3 46725110 rs9810659 A G 905.61 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.73;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ALS2CL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318962 GT:AD:DP:GQ:PL 1/1:0,24:24:69.23:939,69,0
3 46725120 rs9868213 T G 1326.88 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.34;MQ0=0;QD=37.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ALS2CL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318962 GT:AD:DP:GQ:PL 1/1:0,35:35:99:1360,102,0
3 46728659 rs7633016 G A 52.84 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.61;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ALS2CL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318962 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:84,6,0
3 46729757 rs7642448 C G 477.47 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.226;DB;DP=24;Dels=0.0;FS=5.275;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=-0.42;QD=19.89;ReadPosRankSum=0.613;SNPEFF_AMINO_ACID_CHANGE=E45Q;SNPEFF_CODON_CHANGE=Gag/Cag;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_46729588_46729786;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ALS2CL;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000318962 GT:AD:DP:GQ:PL 0/1:8,16:24:99:507,0,268
3 46750553 rs11130106 G A 579.57 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.09;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PRSS50;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315170 GT:AD:DP:GQ:PL 1/1:0,17:17:48.15:613,48,0
3 46751073 rs111033328 TAAG T 3453.27 PASS AC=2;AF=1.00;AN=2;DB;DP=114;FS=0.0;HRun=0;HaplotypeScore=518.5404;IndelType=D;MQ=59.52;MQ0=0;QD=30.29;SNPEFF_AMINO_ACID_CHANGE=K123-;SNPEFF_CODON_CHANGE=aag/-;SNPEFF_EFFECT=CODON_DELETION;SNPEFF_EXON_ID=exon_3_46751069_46752376;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMIE;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000326431 GT:AD:DP:GQ:PL 1/1:34,80:114:99:3453,250,0
3 46783919 . T C 1577.60 PASS AB=0.531;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.493;DP=128;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=56.48;MQ0=0;MQRankSum=0.854;QD=12.33;ReadPosRankSum=-1.136;SNPEFF_AMINO_ACID_CHANGE=N203S;SNPEFF_CODON_CHANGE=aAt/aGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_46783840_46784073;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PRSS45;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000442359 GT:AD:DP:GQ:PL 0/1:68,60:128:99:1608,0,2066
3 46933960 rs1001284 C G 588.10 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.77;MQ0=0;QD=28.0;SNPEFF_AMINO_ACID_CHANGE=T142S;SNPEFF_CODON_CHANGE=aCt/aGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_46933796_46934087;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTH1R;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000313063 GT:AD:DP:GQ:PL 1/1:0,21:21:51.13:621,51,0
3 46934292 rs4683300 C A 93.72 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.24;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTH1R;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313049 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:126,9,0
3 46941116 rs2242116 A G 71.61 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.87;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTH1R;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000490109 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:104,9,0
3 46944274 rs1138518 T C 2061.28 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.25;SNPEFF_AMINO_ACID_CHANGE=N35;SNPEFF_CODON_CHANGE=aaT/aaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_46944239_46944280;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTH1R;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000422115 GT:AD:DP:GQ:PL 1/1:0,62:62:99:2094,157,0
3 46945263 rs71807741 G GA 116.61 PASS AB=0.739;AC=1;AF=0.50;AN=2;BaseQRankSum=0.467;DB;DP=17;FS=0.0;HRun=10;HaplotypeScore=39.493;IndelType=I;MQ=60.56;MQ0=0;MQRankSum=1.517;QD=6.86;ReadPosRankSum=-0.467;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PTH1R;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427125 GT:AD:DP:GQ:PL 0/1:11,6:17:99:156,0,112
3 46963502 rs4587 T C 657.90 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.9;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000446836 GT:AD:DP:GQ:PL 1/1:0,22:22:54.16:691,54,0
3 46965197 rs2290546 C G 153.32 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.55;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000494655 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:186,15,0
3 46967040 rs2290545 G A 695.17 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000292314 GT:AD:DP:GQ:PL 1/1:0,21:21:54.18:728,54,0
3 46982365 rs6804732 T C 1021.59 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.23;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000292314 GT:AD:DP:GQ:PL 1/1:0,29:29:81.21:1055,81,0
3 46982762 rs4682843 A G 152.48 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=49.96;MQ0=0;QD=30.5;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000292314 GT:AD:DP:GQ:PL 1/1:0,5:5:15.04:185,15,0
3 46982774 rs4683293 T C 111.85 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=53.95;MQ0=0;QD=27.96;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000292314 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:144,12,0
3 46982779 rs4682841 G A 112.40 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.95;MQ0=0;QD=28.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000292314 GT:AD:DP:GQ:PL 1/1:0,4:4:12.03:145,12,0
3 47018214 rs936181 T C 333.54 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.35;SNPEFF_AMINO_ACID_CHANGE=A16;SNPEFF_CODON_CHANGE=gcA/gcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_47018127_47018270;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC12;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000292314 GT:AD:DP:GQ:PL 1/1:0,10:10:30.09:367,30,0
3 47031237 rs4282092 C G 78.73 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.24;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBEAL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000292309 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:111,9,0
3 47033937 rs13066214 C T 603.23 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;QD=37.7;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBEAL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000292309 GT:AD:DP:GQ:PL 1/1:0,16:16:48.15:636,48,0
3 47035625 rs936185 G A 157.12 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.82;MQ0=0;QD=26.19;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBEAL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000292309 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:190,15,0
3 47038135 rs11396344 C CA 484.99 PASS AC=2;AF=1.00;AN=2;DB;DP=11;FS=0.0;HRun=0;HaplotypeScore=44.1705;IndelType=I;MQ=59.88;MQ0=0;QD=44.09;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBEAL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000292309 GT:AD:DP:GQ:PL 1/1:0,11:11:33.11:527,33,0
3 47043538 rs2305634 C T 267.17 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.4;SNPEFF_AMINO_ACID_CHANGE=S1453;SNPEFF_CODON_CHANGE=tcC/tcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_47043410_47043778;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBEAL2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000292309 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:300,24,0
3 47044122 rs11928558 A T 121.51 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.38;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBEAL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475689 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:154,12,0
3 47045739 rs1079276 C G 4249.54 PASS AC=2;AF=1.00;AN=2;DB;DP=128;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.966;MQ=58.91;MQ0=0;QD=33.2;SNPEFF_AMINO_ACID_CHANGE=P1834;SNPEFF_CODON_CHANGE=ccC/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_47045567_47045883;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBEAL2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000292309 GT:AD:DP:GQ:PL 1/1:0,128:128:99:4250,325,0
3 47045846 rs2305637 C T 489.22 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.161;DB;DP=36;Dels=0.0;FS=4.21;HRun=1;HaplotypeScore=2.3937;MQ=58.71;MQ0=0;MQRankSum=0.166;QD=13.59;ReadPosRankSum=-1.087;SNPEFF_AMINO_ACID_CHANGE=S1870F;SNPEFF_CODON_CHANGE=tCc/tTc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_47045567_47045883;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBEAL2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000292309 GT:AD:DP:GQ:PL 0/1:14,21:36:99:519,0,365
3 47046842 rs2305638 G C 426.70 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;QD=25.1;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBEAL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475689 GT:AD:DP:GQ:PL 1/1:0,16:17:39.11:460,39,0
3 47047176 rs34119582 A AG 539.21 PASS AC=2;AF=1.00;AN=2;DB;DP=16;FS=0.0;HRun=5;HaplotypeScore=31.1196;IndelType=I;MQ=60.67;MQ0=0;QD=33.7;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBEAL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475689 GT:AD:DP:GQ:PL 1/1:1,15:16:45.14:581,45,0
3 47047358 rs13081418 A C 495.42 PASS AB=0.578;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.54;DB;DP=45;Dels=0.0;FS=2.683;HRun=1;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=0.931;QD=11.01;ReadPosRankSum=-0.77;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NBEAL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000441027 GT:AD:DP:GQ:PL 0/1:26,19:45:99:525,0,864
3 47059323 rs2385867 C T 136.50 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.75;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SETD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409792 GT:AD:DP:GQ:PL 1/1:0,6:6:12.04:169,12,0
3 47061183 rs2290547 G A 219.68 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.384;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.854;QD=12.2;ReadPosRankSum=1.678;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SETD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409792 GT:AD:DP:GQ:PL 0/1:9,9:18:99:250,0,306
3 47079112 rs6768722 G A 289.50 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.95;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SETD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479832 GT:AD:DP:GQ:PL 1/1:0,10:10:24.08:322,24,0
3 47103861 rs34058239 GTT G 1362.03 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.466;DB;DP=66;FS=0.0;HRun=14;HaplotypeScore=322.549;IndelType=D;MQ=58.82;MQ0=2;MQRankSum=1.266;QD=20.03;ReadPosRankSum=0.267;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SETD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409792 GT:AD:DP:GQ:PL 1/1:16,51:66:99:1404,147,0
3 47108330 rs9844122 C T 91.02 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.34;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SETD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409792 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:123,9,0
3 47108515 rs79752114 G A 1379.03 PASS AB=0.57;AC=1;AF=0.50;AN=2;BaseQRankSum=0.469;DB;DP=135;Dels=0.0;FS=0.728;HRun=4;HaplotypeScore=0.734;MQ=59.55;MQ0=0;MQRankSum=0.483;QD=10.22;ReadPosRankSum=1.417;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SETD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409792 GT:AD:DP:GQ:PL 0/1:77,58:135:99:1409,0,2404
3 47125385 rs4082155 G A 2174.55 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.24;SNPEFF_AMINO_ACID_CHANGE=P1962L;SNPEFF_CODON_CHANGE=cCc/cTc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_47125210_47125872;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SETD2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000409792 GT:AD:DP:GQ:PL 1/1:0,60:60:99:2208,163,0
3 47125916 rs5848822 CT C 38.66 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.742;DB;DP=13;FS=0.0;HRun=16;HaplotypeScore=75.4055;IndelType=D;MQ=56.35;MQ0=0;MQRankSum=0.742;QD=2.97;ReadPosRankSum=0.742;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SETD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484689 GT:AD:DP:GQ:PL 1/1:4,6:13:13.89:80,14,0
3 47129454 rs66851205 TAAAC T 200.66 PASS AC=2;AF=1.00;AN=2;DB;DP=6;FS=0.0;HRun=0;HaplotypeScore=36.327;IndelType=D;MQ=60.0;MQ0=0;QD=33.44;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SETD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484689 GT:AD:DP:GQ:PL 1/1:1,5:6:15.05:242,15,0
3 47129903 rs12631730 C T 43.42 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=47.12;MQ0=0;QD=21.71;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SETD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409792 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:75,6,0
3 47139651 . T C 404.48 PASS AB=0.176;AC=1;AF=0.50;AN=2;BaseQRankSum=1.197;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.189;QD=23.79;ReadPosRankSum=-0.819;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SETD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409792 GT:AD:DP:GQ:PL 0/1:3,14:17:68.09:434,0,68
3 47142907 rs66838766 TCC T 5609.37 PASS AC=2;AF=1.00;AN=2;DB;DP=132;FS=0.0;HRun=4;HaplotypeScore=481.4836;IndelType=D;MQ=58.78;MQ0=3;QD=41.25;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SETD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000409792 GT:AD:DP:GQ:PL 1/1:3,133:132:99:5609,385,0
3 47162661 rs6767907 A G 3546.62 PASS AC=2;AF=1.00;AN=2;DB;DP=97;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.56;SNPEFF_AMINO_ACID_CHANGE=N1111;SNPEFF_CODON_CHANGE=aaT/aaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_47161973_47166038;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SETD2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000412450 GT:AD:DP:GQ:PL 1/1:0,97:97:99:3547,259,0
3 47276968 rs2276854 C T 805.22 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.01;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000352910 GT:AD:DP:GQ:PL 1/1:0,23:23:66.21:838,66,0
3 47277458 rs1874264 A G 755.77 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.06;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000487440 GT:AD:DP:GQ:PL 1/1:1,28:29:66.16:789,66,0
3 47277885 rs13094438 G A 404.74 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.79;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000487440 GT:AD:DP:GQ:PL 1/1:0,11:11:33.11:438,33,0
3 47282303 rs2276853 G A 1555.32 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.17;SNPEFF_AMINO_ACID_CHANGE=R480W;SNPEFF_CODON_CHANGE=Cgg/Tgg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_47282291_47282505;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF9;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000352910 GT:AD:DP:GQ:PL 1/1:0,43:43:99:1588,117,0
3 47286227 rs6772449 G T 1784.30 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.54;MQ0=0;QD=35.69;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443784 GT:AD:DP:GQ:PL 1/1:0,50:50:99:1817,135,0
3 47287603 rs35871850 A AT 438.03 PASS AC=2;AF=1.00;AN=2;DB;DP=10;FS=0.0;HRun=0;HaplotypeScore=22.3932;IndelType=I;MQ=61.07;MQ0=0;QD=43.8;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443784 GT:AD:DP:GQ:PL 1/1:0,10:10:30.10:480,30,0
3 47316725 rs903538 G A 356.08 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.37;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000425452 GT:AD:DP:GQ:PL 1/1:1,10:11:30.09:389,30,0
3 47318747 rs924009 T G 521.47 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.76;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265529 GT:AD:DP:GQ:PL 1/1:0,15:15:42.14:554,42,0
3 47322133 rs811115 C T 52.22 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=51.77;MQ0=0;QD=17.41;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265529 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:83,6,0
3 47322496 rs807936 C T 1725.90 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.84;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIF9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265529 GT:AD:DP:GQ:PL 1/1:0,51:51:99:1759,141,0
3 47376095 rs295450 A G 952.28 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.27;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=KLHL18;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000232766 GT:AD:DP:GQ:PL 1/1:0,27:27:75.24:985,75,0
3 47384925 rs295457 G T 322.36 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=57.39;MQ0=0;QD=35.82;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=KLHL18;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461084 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:355,27,0
3 47437449 rs900693 C A 91.49 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PTPN23;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265562 GT:AD:DP:GQ:PL 1/1:0,5:5:9.03:124,9,0
3 47447673 rs13077134 C G 43.46 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=14.49;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PTPN23;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265562 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:75,6,0
3 47449058 rs900688 T C 3530.32 PASS AC=2;AF=1.00;AN=2;DB;DP=112;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.38;MQ0=0;QD=31.52;SNPEFF_AMINO_ACID_CHANGE=T294;SNPEFF_CODON_CHANGE=acT/acC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_47448995_47449074;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PTPN23;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000456408 GT:AD:DP:GQ:PL 1/1:0,111:112:99:3530,274,0
3 47449580 rs1531874 T C 44.34 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=14.78;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PTPN23;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000456221 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:76,6,0
3 47452087 rs900689 G A 864.51 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.2;MQ0=0;QD=33.25;SNPEFF_AMINO_ACID_CHANGE=P933;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_47451418_47453176;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PTPN23;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000265562 GT:AD:DP:GQ:PL 1/1:0,26:26:66.21:898,66,0
3 47452786 rs1531875 G A 756.28 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.08;MQ0=0;QD=34.38;SNPEFF_AMINO_ACID_CHANGE=E1166;SNPEFF_CODON_CHANGE=gaG/gaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_47451418_47453176;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PTPN23;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000265562 GT:AD:DP:GQ:PL 1/1:0,22:22:60.19:789,60,0
3 47454399 rs6789730 G A 556.26 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=59.14;MQ0=0;QD=20.6;SNPEFF_AMINO_ACID_CHANGE=P1545;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_47454196_47454931;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PTPN23;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000265562 GT:AD:DP:GQ:PL 1/1:0,23:27:51.13:589,51,0
3 47455086 rs4858868 G A 268.21 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.53;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PTPN23;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265562 GT:AD:DP:GQ:PL 1/1:0,8:8:24.07:301,24,0
3 47456225 rs6442066 T C 2005.02 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.4703;MQ=60.0;MQ0=0;QD=34.57;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PTPN23;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265562 GT:AD:DP:GQ:PL 1/1:0,57:58:99:2038,153,0
3 47462200 rs900690 T C 672.56 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=57.05;MQ0=0;QD=28.02;SNPEFF_AMINO_ACID_CHANGE=G162;SNPEFF_CODON_CHANGE=ggA/ggG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_47462077_47462262;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCAP;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000383739 GT:AD:DP:GQ:PL 1/1:0,24:24:54.17:706,54,0
3 47462587 rs900691 A G 1157.16 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.33;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCAP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000428413 GT:AD:DP:GQ:PL 1/1:0,31:31:90.27:1190,90,0
3 47464122 rs1038394 A G 239.88 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.65;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCAP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000428413 GT:AD:DP:GQ:PL 1/1:0,9:9:21.06:273,21,0
3 47484126 rs900692 G C 93.72 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.24;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCAP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265565 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:126,9,0
3 47539751 rs2170814 T C 914.65 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.18;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf75;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000412761 GT:AD:DP:GQ:PL 1/1:0,26:26:72.23:948,72,0
3 47539969 rs13059519 C T 1611.59 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.19;MQ0=0;QD=28.27;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf75;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000414236 GT:AD:DP:GQ:PL 1/1:1,55:57:99:1645,123,0
3 47543389 rs3816779 G A 212.71 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.45;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf75;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485029 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:246,18,0
3 47555142 rs2291298 C A 480.14 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.45;MQ0=0;QD=32.01;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf75;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000483205 GT:AD:DP:GQ:PL 1/1:0,15:15:39.13:513,39,0
3 47603926 rs11456803 A AT 1079.96 PASS AC=2;AF=1.00;AN=2;DB;DP=31;FS=0.0;HRun=7;HaplotypeScore=75.6733;IndelType=I;MQ=59.61;MQ0=0;QD=34.84;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CSPG5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264723 GT:AD:DP:GQ:PL 1/1:2,29:31:93.29:1122,93,0
3 47604299 rs4858839 C T 1496.63 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.93;MQ0=0;QD=34.81;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CSPG5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264723 GT:AD:DP:GQ:PL 1/1:0,43:43:99:1530,114,0
3 47614413 rs2280567 G A 206.85 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.55;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CSPG5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465441 GT:AD:DP:GQ:PL 1/1:0,7:7:18.06:240,18,0
3 47618953 rs3732530 C A 966.72 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.17;MQ0=0;QD=34.53;SNPEFF_AMINO_ACID_CHANGE=G188V;SNPEFF_CODON_CHANGE=gGg/gTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_47618323_47619418;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CSPG5;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000264723 GT:AD:DP:GQ:PL 1/1:0,28:28:75.24:1000,75,0
3 47645933 rs62262079 A T 524.24 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.977;DB;DP=30;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.935;QD=17.47;ReadPosRankSum=-0.021;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMARCC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000254480 GT:AD:DP:GQ:PL 0/1:14,16:30:99:554,0,465
3 47676902 rs72581966 C CA 1397.14 PASS AC=2;AF=1.00;AN=2;DB;DP=33;FS=0.0;HRun=1;HaplotypeScore=62.5593;IndelType=I;MQ=59.59;MQ0=0;QD=42.34;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMARCC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000254480 GT:AD:DP:GQ:PL 1/1:2,31:33:96.33:1439,96,0
3 47680066 rs12633923 C T 358.87 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.62;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMARCC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000254480 GT:AD:DP:GQ:PL 1/1:0,11:11:30.10:392,30,0
3 47680119 rs12636863 T C 763.53 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.89;MQ0=0;QD=36.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMARCC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000254480 GT:AD:DP:GQ:PL 1/1:0,21:21:60.20:797,60,0
3 47704222 rs9840859 G T 254.09 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMARCC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000254480 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:287,21,0
3 47712202 rs1141601 T C 505.96 PASS AB=0.346;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.216;DB;DP=26;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.11;MQ0=0;MQRankSum=-0.539;QD=19.46;ReadPosRankSum=0.593;SNPEFF_AMINO_ACID_CHANGE=K615;SNPEFF_CODON_CHANGE=aaA/aaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_47712148_47712207;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMARCC1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000254480 GT:AD:DP:GQ:PL 0/1:9,17:26:99:536,0,248
3 47751998 rs2047558 T C 249.45 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.64;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMARCC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000254480 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:282,21,0
3 47762030 rs12495204 A G 809.59 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMARCC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000254480 GT:AD:DP:GQ:PL 1/1:0,27:28:72.20:843,72,0
3 47762483 rs7618758 C T 86.88 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.96;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMARCC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000254480 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:119,9,0
3 47882727 rs17290490 C T 624.35 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.73;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=DHX30;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000348968 GT:AD:DP:GQ:PL 1/1:0,17:17:48.16:657,48,0
3 47884953 rs319694 C T 85.33 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=48.5;MQ0=0;QD=21.33;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=DHX30;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000441384 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:117,9,0
3 48019232 rs6770467 A G 853.69 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.03;MQ0=0;QD=35.57;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360240 GT:AD:DP:GQ:PL 1/1:0,24:24:72.20:887,72,0
3 48019258 rs6770477 A G 1101.58 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.76;MQ0=0;QD=32.4;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360240 GT:AD:DP:GQ:PL 1/1:0,34:34:96.26:1135,96,0
3 48205625 rs41290676 T C 610.19 PASS AB=0.387;AC=1;AF=0.50;AN=2;BaseQRankSum=0.669;DB;DP=31;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.629;QD=19.68;ReadPosRankSum=1.075;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC25A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000459900 GT:AD:DP:GQ:PL 0/1:12,19:31:99:640,0,402
3 48209486 rs3731539 C T 862.65 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.95;MQ0=0;QD=39.21;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC25A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302506 GT:AD:DP:GQ:PL 1/1:0,22:22:66.22:896,66,0
3 48219320 rs3731514 AAC A 6289.64 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.269;DB;DP=215;FS=6.77;HRun=0;HaplotypeScore=764.4713;IndelType=D;MQ=58.52;MQ0=1;MQRankSum=0.559;QD=28.98;ReadPosRankSum=1.456;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CDC25A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302506 GT:AD:DP:GQ:PL 1/1:38,176:215:99:6290,442,0
3 48414197 rs9852211 A T 2128.16 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.31;MQ0=0;QD=34.89;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FBXW12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000436231 GT:AD:DP:GQ:PL 1/1:0,60:60:99:2161,160,0
3 48414215 rs9815103 G A 842.50 PASS AB=0.618;AC=1;AF=0.50;AN=2;BaseQRankSum=3.583;DB;DP=76;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=59.45;MQ0=0;MQRankSum=-0.886;QD=11.09;ReadPosRankSum=0.685;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FBXW12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000436231 GT:AD:DP:GQ:PL 0/1:47,29:76:99:872,0,1267
3 48415007 rs4858793 C G 400.40 PASS AB=0.516;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.68;DB;DP=31;Dels=0.0;FS=6.576;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.324;QD=12.92;ReadPosRankSum=0.376;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FBXW12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296438 GT:AD:DP:GQ:PL 0/1:16,15:31:99:430,0,512
3 48416756 rs4858817 A G 387.15 PASS AB=0.423;AC=1;AF=0.50;AN=2;BaseQRankSum=2.024;DB;DP=26;Dels=0.0;FS=3.078;HRun=3;HaplotypeScore=0.9469;MQ=59.11;MQ0=0;MQRankSum=-0.778;QD=14.89;ReadPosRankSum=0.467;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FBXW12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296438 GT:AD:DP:GQ:PL 0/1:11,15:26:99:417,0,361
3 48419689 rs7653691 C T 71.39 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.988;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.537;QD=11.9;ReadPosRankSum=0.988;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FBXW12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296438 GT:AD:DP:GQ:PL 0/1:3,3:6:99:101,0,108
3 48419723 rs7630741 G T 69.62 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.422;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.573;QD=7.74;ReadPosRankSum=1.422;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FBXW12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296438 GT:AD:DP:GQ:PL 0/1:6,3:9:99:100,0,186
3 48419897 rs6442117 C T 306.29 PASS AB=0.581;AC=1;AF=0.50;AN=2;BaseQRankSum=1.942;DB;DP=31;Dels=0.0;FS=1.483;HRun=1;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=-0.62;QD=9.88;ReadPosRankSum=0.06;SNPEFF_AMINO_ACID_CHANGE=R147W;SNPEFF_CODON_CHANGE=Cgg/Tgg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_48419807_48420016;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FBXW12;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000445170 GT:AD:DP:GQ:PL 0/1:18,13:31:99:336,0,559
3 48422235 rs6784322 T A 530.07 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=1.473;DB;DP=45;Dels=0.0;FS=1.154;HRun=0;HaplotypeScore=0.0;MQ=59.59;MQ0=0;MQRankSum=-1.291;QD=11.78;ReadPosRankSum=0.697;SNPEFF_AMINO_ACID_CHANGE=V116D;SNPEFF_CODON_CHANGE=gTt/gAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_48422192_48422402;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FBXW12;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000436231 GT:AD:DP:GQ:PL 0/1:25,20:45:99:560,0,748
3 48423656 rs7635522 T G 121.35 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.34;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FBXW12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296438 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:154,12,0
3 48450706 rs3217706 TC T 257.04 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=1.877;DB;DP=24;FS=1.935;HRun=7;HaplotypeScore=89.1915;IndelType=D;MQ=59.03;MQ0=0;MQRankSum=0.769;QD=10.71;ReadPosRankSum=2.062;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXNB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000449094 GT:AD:DP:GQ:PL 0/1:12,12:24:99:296,0,346
3 48451300 rs3214871 AG A 173.41 PASS AB=0.741;AC=1;AF=0.50;AN=2;BaseQRankSum=3.0;DB;DP=20;FS=2.199;HRun=2;HaplotypeScore=49.696;IndelType=D;MQ=60.54;MQ0=0;MQRankSum=0.296;QD=8.67;ReadPosRankSum=0.211;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXNB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000449094 GT:AD:DP:GQ:PL 0/1:13,7:20:99:212,0,483
3 48454468 rs3214041 C T 896.39 PASS AB=0.579;AC=1;AF=0.50;AN=2;BaseQRankSum=0.14;DB;DP=76;Dels=0.0;FS=2.151;HRun=0;HaplotypeScore=0.7887;MQ=59.45;MQ0=0;MQRankSum=0.263;QD=11.79;ReadPosRankSum=0.846;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXNB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000449094 GT:AD:DP:GQ:PL 0/1:44,32:76:99:926,0,1309
3 48455626 rs6794875 A G 44.97 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=11.24;ReadPosRankSum=0.727;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXNB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462738 GT:AD:DP:GQ:PL 0/1:1,3:4:32.73:75,0,33
3 48461313 rs2362450 C G 177.18 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=2.181;DB;DP=11;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.9982;MQ=60.0;MQ0=0;MQRankSum=0.143;QD=16.11;ReadPosRankSum=-0.466;SNPEFF_AMINO_ACID_CHANGE=P794;SNPEFF_CODON_CHANGE=ccG/ccC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_48460986_48461666;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXNB1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000296440 GT:AD:DP:GQ:PL 0/1:5,6:11:99:207,0,153
3 48462461 rs11130171 A G 157.20 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.66;DB;DP=13;Dels=0.0;FS=2.276;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.101;QD=12.09;ReadPosRankSum=-0.935;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXNB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473683 GT:AD:DP:GQ:PL 0/1:7,6:13:99:187,0,253
3 48463618 rs9883759 T A 197.57 PASS AB=0.652;AC=1;AF=0.50;AN=2;BaseQRankSum=2.185;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.198;QD=8.59;ReadPosRankSum=0.07;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXNB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473683 GT:AD:DP:GQ:PL 0/1:15,8:23:99:228,0,504
3 48463711 rs9883927 T C 168.94 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=0.717;DB;DP=11;Dels=0.0;FS=3.424;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.466;QD=15.36;ReadPosRankSum=1.749;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXNB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473683 GT:AD:DP:GQ:PL 0/1:5,6:11:99:199,0,156
3 48463856 rs142527941 G A 76.15 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.55;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.937;QD=10.88;ReadPosRankSum=0.55;SNPEFF_AMINO_ACID_CHANGE=P435S;SNPEFF_CODON_CHANGE=Cca/Tca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_48463740_48463868;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXNB1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000296440 GT:AD:DP:GQ:PL 0/1:4,3:7:71.95:106,0,72
3 48474249 rs2279077 A G 788.52 PASS AB=0.466;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.042;DB;DP=59;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=0.733;QD=13.36;ReadPosRankSum=-0.156;SNPEFF_AMINO_ACID_CHANGE=L160;SNPEFF_CODON_CHANGE=Ttg/Ctg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_48473580_48474576;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC51;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000412398 GT:AD:DP:GQ:PL 0/1:27,31:59:99:819,0,887
3 48476431 rs13062723 C G 1247.33 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.71;SNPEFF_AMINO_ACID_CHANGE=L36;SNPEFF_CODON_CHANGE=ctG/ctC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_48476227_48476546;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC51;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000395694 GT:AD:DP:GQ:PL 1/1:0,37:37:96.26:1280,96,0
3 48481647 rs3774808 G A 93.88 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=0.135;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.135;QD=7.82;ReadPosRankSum=1.788;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_3_48481506_48481866;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC51;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000438370 GT:AD:DP:GQ:PL 0/1:7,5:12:99:124,0,210
3 48485493 rs7126 A G 52.64 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.32;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CCDC72;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479126 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
3 48491367 . T G 224.45 HaplotypeScoreFilter13;QDFilter2 AB=0.405;AC=1;AF=0.50;AN=2;BaseQRankSum=-6.337;DP=126;Dels=0.0;FS=47.196;HRun=3;HaplotypeScore=19.3474;MQ=55.63;MQ0=1;MQRankSum=-0.423;QD=1.78;ReadPosRankSum=4.083;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ATRIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000320211 GT:AD:DP:GQ:PL 0/1:51,75:126:99:254,0,1239
3 48505302 rs6442124 A G 665.53 PASS AB=0.458;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.544;DB;DP=48;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7206;MQ=60.0;MQ0=0;MQRankSum=-0.813;QD=13.87;ReadPosRankSum=-1.12;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ATRIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421175 GT:AD:DP:GQ:PL 0/1:22,26:48:99:696,0,569
3 48505964 rs2242150 C A 1179.63 PASS AB=0.403;AC=1;AF=0.50;AN=2;BaseQRankSum=0.513;DB;DP=67;Dels=0.0;FS=5.002;HRun=1;HaplotypeScore=0.9987;MQ=59.66;MQ0=0;MQRankSum=0.335;QD=17.61;ReadPosRankSum=-1.018;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ATRIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000454733 GT:AD:DP:GQ:PL 0/1:27,40:67:99:1210,0,782
3 48508585 rs11797 C T 553.37 PASS AB=0.488;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.543;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.665;QD=13.5;ReadPosRankSum=-0.796;SNPEFF_AMINO_ACID_CHANGE=Y167;SNPEFF_CODON_CHANGE=taC/taT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_48508067_48509042;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=TREX1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000444177 GT:AD:DP:GQ:PL 0/1:20,21:41:99:583,0,666
3 48602523 rs7624006 G GGGC 1535.48 PASS AC=2;AF=1.00;AN=2;DB;DP=24;FS=0.0;HRun=0;HaplotypeScore=148.5818;IndelType=I;MQ=48.82;MQ0=0;QD=63.98;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=COL7A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000422991 GT:AD:DP:GQ:PL 1/1:5,18:24:69.24:1578,69,0
3 48625266 rs1264194 T C 243.83 PASS AB=0.56;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.554;DB;DP=25;Dels=0.0;FS=1.76;HRun=1;HaplotypeScore=0.0;MQ=59.07;MQ0=0;MQRankSum=0.092;QD=9.75;ReadPosRankSum=-0.769;SNPEFF_AMINO_ACID_CHANGE=P939;SNPEFF_CODON_CHANGE=ccA/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_48625226_48625372;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=COL7A1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000328333 GT:AD:DP:GQ:PL 0/1:14,11:25:99:274,0,380
3 48636648 . C G 459.03 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=1.379;DP=42;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.8653;MQ=60.0;MQ0=0;MQRankSum=-0.749;QD=10.93;ReadPosRankSum=0.328;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=UQCRC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000412343 GT:AD:DP:GQ:PL 0/1:24,18:42:99:489,0,633
3 48680470 rs112843572 C T 651.67 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=3.498;DB;DP=36;Dels=0.0;FS=1.691;HRun=0;HaplotypeScore=0.8667;MQ=58.71;MQ0=0;MQRankSum=0.866;QD=18.1;ReadPosRankSum=0.61;SNPEFF_AMINO_ACID_CHANGE=R2779Q;SNPEFF_CODON_CHANGE=cGg/cAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_48680400_48680516;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CELSR3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000164024 GT:AD:DP:GQ:PL 0/1:15,21:36:99:682,0,299
3 48719638 rs7633840 T C 717.07 PASS AB=0.439;AC=1;AF=0.50;AN=2;BaseQRankSum=0.903;DB;DP=42;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.6637;MQ=58.33;MQ0=0;MQRankSum=0.109;QD=17.07;ReadPosRankSum=-0.876;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NCKIPSD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294129 GT:AD:DP:GQ:PL 0/1:18,23:42:99:747,0,545
3 48727112 rs4858798 G A 560.99 PASS AB=0.382;AC=1;AF=0.50;AN=2;BaseQRankSum=1.205;DB;DP=35;Dels=0.0;FS=1.545;HRun=0;HaplotypeScore=0.0;MQ=59.34;MQ0=0;MQRankSum=1.099;QD=16.03;ReadPosRankSum=0.78;SNPEFF_AMINO_ACID_CHANGE=Y213;SNPEFF_CODON_CHANGE=taC/taT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_48726971_48727146;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IP6K2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000328631 GT:AD:DP:GQ:PL 0/1:13,21:35:99:591,0,420
3 48845251 rs9311430 C T 321.56 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.386;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.933;MQ=59.14;MQ0=0;MQRankSum=0.334;QD=11.91;ReadPosRankSum=-0.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRKAR2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265563 GT:AD:DP:GQ:PL 0/1:14,12:27:99:352,0,468
3 48897078 rs6414612 A G 2106.34 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;QD=34.53;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC25A20;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000319017 GT:AD:DP:GQ:PL 1/1:0,60:61:99:2139,169,0
3 48900347 rs7431857 G A 43.44 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=14.48;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC25A20;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000319017 GT:AD:DP:GQ:PL 0/1:1,2:3:32.20:73,0,32
3 49004723 rs6446196 A G 476.14 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.626;DB;DP=38;Dels=0.0;FS=3.928;HRun=0;HaplotypeScore=0.8667;MQ=59.01;MQ0=0;MQRankSum=-0.562;QD=12.53;ReadPosRankSum=1.018;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARIH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000430423 GT:AD:DP:GQ:PL 0/1:19,19:38:99:506,0,630
3 49044767 rs6781790 C T 97.24 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.421;DB;DP=8;Dels=0.0;FS=3.68;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=12.15;ReadPosRankSum=1.368;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=P4HTM;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343546 GT:AD:DP:GQ:PL 0/1:4,4:8:99:127,0,138
3 49049501 . T G 276.47 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.835;DP=46;Dels=0.0;FS=47.544;HRun=2;HaplotypeScore=4.377;MQ=48.99;MQ0=0;MQRankSum=-2.525;QD=6.01;ReadPosRankSum=1.601;SNPEFF_AMINO_ACID_CHANGE=G127;SNPEFF_CODON_CHANGE=ggT/ggG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_49049068_49051549;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR6;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000448293 GT:AD:DP:GQ:PL 0/1:20,25:46:99:306,0,584
3 49052785 rs8926 T A 430.45 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=1.133;DB;DP=24;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.22;MQ0=0;MQRankSum=-0.417;QD=17.94;ReadPosRankSum=0.656;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=DALRD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313778 GT:AD:DP:GQ:PL 0/1:9,15:24:99:460,0,255
3 49053219 rs7100 A G 1200.97 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.979;DB;DP=86;Dels=0.0;FS=3.031;HRun=0;HaplotypeScore=0.0;MQ=59.73;MQ0=0;MQRankSum=-0.163;QD=13.96;ReadPosRankSum=0.453;SNPEFF_AMINO_ACID_CHANGE=P203;SNPEFF_CODON_CHANGE=ccA/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_49053186_49053293;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR6;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000354294 GT:AD:DP:GQ:PL 0/1:43,43:86:99:1231,0,1286
3 49054692 rs3087866 T C 1478.34 PASS AB=0.454;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.783;DB;DP=97;Dels=0.0;FS=1.824;HRun=1;HaplotypeScore=1.7262;MQ=59.09;MQ0=0;MQRankSum=0.129;QD=15.24;ReadPosRankSum=-0.393;SNPEFF_AMINO_ACID_CHANGE=Q132R;SNPEFF_CODON_CHANGE=cAg/cGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_49054661_49054789;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=DALRD3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000313778 GT:AD:DP:GQ:PL 0/1:44,53:97:99:1508,0,1344
3 49057545 . T C 251.54 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.884;DP=15;Dels=0.0;FS=2.158;HRun=0;HaplotypeScore=1.5781;MQ=60.0;MQ0=0;MQRankSum=0.295;QD=16.77;ReadPosRankSum=-0.059;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IMPDH2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326739 GT:AD:DP:GQ:PL 0/1:6,9:15:99:282,0,206
3 49070499 rs4974081 C T 147.11 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=0.466;DB;DP=11;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.031;QD=13.37;ReadPosRankSum=0.466;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=QRICH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479449 GT:AD:DP:GQ:PL 0/1:5,6:11:99:177,0,173
3 49113957 rs66657597 TA T 128.98 PASS AB=0.682;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.771;DB;DP=30;FS=0.0;HRun=14;HaplotypeScore=211.8257;IndelType=D;MQ=57.94;MQ0=0;MQRankSum=0.849;QD=4.3;ReadPosRankSum=0.801;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=QRICH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000411682 GT:AD:DP:GQ:PL 0/1:16,12:30:99:168,0,248
3 49114544 rs7626445 C T 138.56 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.256;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.2;MQ0=0;MQRankSum=-0.696;QD=10.66;ReadPosRankSum=-2.524;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=QRICH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357496 GT:AD:DP:GQ:PL 0/1:8,5:13:99:169,0,288
3 49135961 rs13064784 C G 429.15 PASS AB=0.414;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.148;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.5769;MQ=60.0;MQ0=0;MQRankSum=-0.022;QD=14.8;ReadPosRankSum=-1.218;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=QARS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000417025 GT:AD:DP:GQ:PL 0/1:12,17:29:99:459,0,378
3 49137904 rs4521268 G T 182.67 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.579;DB;DP=22;Dels=0.0;FS=1.957;HRun=1;HaplotypeScore=1.841;MQ=60.0;MQ0=0;MQRankSum=0.347;QD=8.3;ReadPosRankSum=-1.196;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=QARS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000417025 GT:AD:DP:GQ:PL 0/1:12,8:22:99:213,0,354
3 49139966 rs4513485 G A 136.28 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.978;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.437;QD=10.48;ReadPosRankSum=-1.545;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=QARS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000417025 GT:AD:DP:GQ:PL 0/1:8,5:13:99:166,0,295
3 49148890 rs4292260 T C 153.84 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=0.072;DB;DP=28;Dels=0.0;FS=9.416;HRun=3;HaplotypeScore=0.9996;MQ=59.17;MQ0=0;MQRankSum=0.551;QD=5.49;ReadPosRankSum=-1.654;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP19;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000306026 GT:AD:DP:GQ:PL 0/1:18,10:28:99:184,0,622
3 49156676 rs4279134 A G 816.44 PASS AB=0.362;AC=1;AF=0.50;AN=2;BaseQRankSum=1.684;DB;DP=47;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.51;MQ0=0;MQRankSum=-0.728;QD=17.37;ReadPosRankSum=0.046;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=LAMB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000305544 GT:AD:DP:GQ:PL 0/1:17,30:47:99:846,0,458
3 49166069 rs9865051 C T 897.51 PASS AB=0.477;AC=1;AF=0.50;AN=2;BaseQRankSum=0.639;DB;DP=65;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=59.65;MQ0=0;MQRankSum=-0.693;QD=13.81;ReadPosRankSum=0.8;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=LAMB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000494831 GT:AD:DP:GQ:PL 0/1:31,34:65:99:928,0,949
3 49200627 rs4955418 A G 617.42 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.578;DB;DP=36;Dels=0.0;FS=3.296;HRun=0;HaplotypeScore=2.867;MQ=59.36;MQ0=0;MQRankSum=-1.187;QD=17.15;ReadPosRankSum=-0.257;SNPEFF_AMINO_ACID_CHANGE=W339R;SNPEFF_CODON_CHANGE=Tgg/Cgg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_49199968_49201693;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC71;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000321895 GT:AD:DP:GQ:PL 0/1:15,21:36:99:647,0,491
3 49200692 rs4955419 T A 588.76 PASS AB=0.387;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.405;DB;DP=31;Dels=0.0;FS=3.853;HRun=0;HaplotypeScore=0.9999;MQ=59.25;MQ0=0;MQRankSum=-0.067;QD=18.99;ReadPosRankSum=-0.876;SNPEFF_AMINO_ACID_CHANGE=Q317L;SNPEFF_CODON_CHANGE=cAg/cTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_49199968_49201693;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC71;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000321895 GT:AD:DP:GQ:PL 0/1:12,19:31:99:619,0,374
3 49211989 rs10865954 T C 113.37 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.67;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KLHDC8B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000332780 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:146,12,0
3 49249381 rs9867285 A G 402.44 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.736;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.71;MQ0=0;MQRankSum=0.964;QD=20.12;ReadPosRankSum=-0.501;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296449 GT:AD:DP:GQ:PL 0/1:8,12:20:99:432,0,270
3 49272589 rs7619016 C T 96.40 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.212;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.34;MQ0=0;MQRankSum=-0.437;QD=6.02;ReadPosRankSum=-0.212;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296449 GT:AD:DP:GQ:PL 0/1:10,6:16:99:126,0,258
3 49273996 rs12631989 C T 710.06 PASS AB=0.435;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.473;DB;DP=46;Dels=0.0;FS=4.579;HRun=0;HaplotypeScore=0.9332;MQ=60.0;MQ0=0;MQRankSum=1.039;QD=15.44;ReadPosRankSum=-1.519;SNPEFF_AMINO_ACID_CHANGE=S14;SNPEFF_CODON_CHANGE=tcC/tcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_49273981_49274155;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC36;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000451634 GT:AD:DP:GQ:PL 0/1:20,26:46:99:740,0,566
3 49298139 rs7626076 G A 181.38 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.398;DB;DP=24;Dels=0.0;FS=1.893;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.153;QD=7.56;ReadPosRankSum=0.398;SNPEFF_AMINO_ACID_CHANGE=V32M;SNPEFF_CODON_CHANGE=Gtg/Atg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_49297518_49298749;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RP11-3B7.1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000440528 GT:AD:DP:GQ:PL 0/1:16,8:24:99:211,0,533
3 49298205 rs4955417 T C 551.43 PASS AB=0.474;AC=1;AF=0.50;AN=2;BaseQRankSum=0.19;DB;DP=38;Dels=0.0;FS=4.887;HRun=0;HaplotypeScore=0.0;MQ=59.51;MQ0=0;MQRankSum=-1.886;QD=14.51;ReadPosRankSum=1.067;SNPEFF_AMINO_ACID_CHANGE=W54R;SNPEFF_CODON_CHANGE=Tgg/Cgg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_49297518_49298749;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RP11-3B7.1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000440528 GT:AD:DP:GQ:PL 0/1:18,20:38:99:581,0,515
3 49315575 rs11348001 CT C 62.99 PASS AB=0.808;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.733;DB;DP=21;FS=0.0;HRun=13;HaplotypeScore=146.8025;IndelType=D;MQ=56.0;MQ0=0;MQRankSum=1.555;QD=3.0;ReadPosRankSum=0.844;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485450 GT:AD:DP:GQ:PL 0/1:16,5:21:99:102,0,236
3 49354975 rs71077785 GT G 116.77 PASS AB=0.736;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.305;DB;DP=39;FS=0.0;HRun=16;HaplotypeScore=243.9852;IndelType=D;MQ=54.56;MQ0=0;MQRankSum=0.915;QD=2.99;ReadPosRankSum=0.471;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265560 GT:AD:DP:GQ:PL 0/1:24,11:39:99:156,0,140
3 49362892 rs1865741 A G 294.95 PASS AB=0.412;AC=1;AF=0.50;AN=2;BaseQRankSum=0.244;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.927;QD=17.35;ReadPosRankSum=0.634;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265560 GT:AD:DP:GQ:PL 0/1:7,10:17:99:325,0,232
3 49365269 rs6795772 C T 875.67 PASS AB=0.356;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.387;DB;DP=45;Dels=0.0;FS=1.271;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.174;QD=19.46;ReadPosRankSum=-0.415;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265560 GT:AD:DP:GQ:PL 0/1:16,29:45:99:906,0,541
3 49406080 rs2878298 T C 433.76 PASS AB=0.516;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.245;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.731;QD=13.99;ReadPosRankSum=0.534;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RHOA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000431929 GT:AD:DP:GQ:PL 0/1:16,15:31:99:464,0,552
3 49459114 rs4855873 A C 94.55 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.6;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9734;MQ=60.0;MQ0=0;MQRankSum=1.134;QD=7.88;ReadPosRankSum=1.468;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=AMT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000498571 GT:AD:DP:GQ:PL 0/1:8,4:12:99:125,0,293
3 49459376 rs1464566 T C 192.46 PASS AB=0.3;AC=1;AF=0.50;AN=2;BaseQRankSum=0.895;DB;DP=10;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=55.21;MQ0=0;MQRankSum=-0.296;QD=19.25;ReadPosRankSum=-0.895;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NICN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273598 GT:AD:DP:GQ:PL 0/1:3,7:10:86.33:222,0,86
3 49463926 rs6762593 A G 440.21 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.933;MQ=53.95;MQ0=0;QD=27.51;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NICN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273598 GT:AD:DP:GQ:PL 1/1:0,16:16:36.10:473,36,0
3 49548008 rs2131107 C G 1421.53 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.8941;MQ=59.52;MQ0=0;QD=29.62;SNPEFF_AMINO_ACID_CHANGE=S14W;SNPEFF_CODON_CHANGE=tCg/tGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_49547852_49548252;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=DAG1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000308775 GT:AD:DP:GQ:PL 1/1:0,48:48:99:1455,114,0
3 49548294 rs2329024 T C 488.71 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.78;MQ0=0;QD=25.72;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=DAG1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418588 GT:AD:DP:GQ:PL 1/1:0,19:19:39.13:522,39,0
3 49690199 rs4855885 G A 839.34 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=58.2;MQ0=0;QD=32.28;SNPEFF_AMINO_ACID_CHANGE=T1070;SNPEFF_CODON_CHANGE=acG/acA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_49688976_49695629;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BSN;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000296452 GT:AD:DP:GQ:PL 1/1:0,26:26:66.19:872,66,0
3 49690627 rs35762866 G A 523.60 PASS AB=0.296;AC=1;AF=0.50;AN=2;BaseQRankSum=0.528;DB;DP=27;Dels=0.0;FS=1.583;HRun=0;HaplotypeScore=0.0;MQ=58.27;MQ0=0;MQRankSum=0.139;QD=19.39;ReadPosRankSum=0.361;SNPEFF_AMINO_ACID_CHANGE=G1213D;SNPEFF_CODON_CHANGE=gGc/gAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_49688976_49695629;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BSN;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000296452 GT:AD:DP:GQ:PL 0/1:8,19:27:99:554,0,192
3 49701298 rs2005557 G A 864.26 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.27;MQ0=0;QD=32.01;SNPEFF_AMINO_ACID_CHANGE=A3863T;SNPEFF_CODON_CHANGE=Gca/Aca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_49701220_49701319;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BSN;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000296452 GT:AD:DP:GQ:PL 1/1:0,27:27:72.18:897,72,0
3 49713753 rs6778597 T C 1548.32 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.5;MQ0=0;QD=33.66;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=APEH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463616 GT:AD:DP:GQ:PL 1/1:0,46:46:99:1581,123,0
3 49720393 rs2960548 C G 1340.47 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.073;DB;DP=43;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=-0.248;QD=31.17;ReadPosRankSum=-1.403;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=APEH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000442186 GT:AD:DP:GQ:PL 1/1:1,41:43:65.68:1373,66,0
3 49723784 rs9713651 C A 299.72 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.741;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=47.32;MQ0=1;MQRankSum=1.393;QD=24.98;ReadPosRankSum=-1.044;SNPEFF_AMINO_ACID_CHANGE=P251;SNPEFF_CODON_CHANGE=ccG/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_49723495_49723914;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MST1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000383728 GT:AD:DP:GQ:PL 1/1:3,9:12:2.43:329,2,0
3 49724808 rs3020779 T C 1958.14 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.1;MQ0=0;QD=30.6;SNPEFF_AMINO_ACID_CHANGE=P153;SNPEFF_CODON_CHANGE=ccA/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_49724797_49724911;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MST1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000449682 GT:AD:DP:GQ:PL 1/1:0,64:64:99:1991,156,0
3 49725432 rs35107568 AG A 173.77 PASS AB=0.579;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.742;DB;DP=8;FS=0.0;HRun=2;HaplotypeScore=30.5032;IndelType=D;MQ=37.26;MQ0=1;MQRankSum=-0.742;QD=15.8;ReadPosRankSum=-0.742;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=APEH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296456 GT:AD:DP:GQ:PL 0/1:3,8:8:23.93:213,0,24
3 49725948 rs141881740 C T 87.23 PASS AB=0.524;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.247;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9916;MQ=44.24;MQ0=4;MQRankSum=-2.549;QD=4.15;ReadPosRankSum=-1.139;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=APEH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296456 GT:AD:DP:GQ:PL 0/1:11,10:21:99:117,0,331
3 49726028 rs62262685 T C 408.08 PASS AB=0.477;AC=1;AF=0.50;AN=2;BaseQRankSum=0.483;DB;DP=44;Dels=0.0;FS=2.843;HRun=0;HaplotypeScore=0.0;MQ=45.23;MQ0=3;MQRankSum=-4.734;QD=9.27;ReadPosRankSum=1.395;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=APEH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296456 GT:AD:DP:GQ:PL 0/1:21,23:44:99:438,0,632
3 49726070 rs62262686 G A 119.10 MQFilter40 AB=0.659;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.969;DB;DP=44;Dels=0.0;FS=9.506;HRun=0;HaplotypeScore=0.0;MQ=39.86;MQ0=4;MQRankSum=-3.362;QD=2.71;ReadPosRankSum=-2.514;SNPEFF_AMINO_ACID_CHANGE=P19S;SNPEFF_CODON_CHANGE=Cca/Tca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_49726031_49726486;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MST1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000449682 GT:AD:DP:GQ:PL 0/1:29,15:44:99:149,0,834
3 49735746 rs11130214 C G 101.74 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.517;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=60.0;MQ0=0;MQRankSum=1.221;QD=12.72;ReadPosRankSum=0.322;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RNF123;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443204 GT:AD:DP:GQ:PL 0/1:3,5:8:99:132,0,107
3 49736172 rs11130216 C A 270.67 PASS AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.347;DB;DP=19;Dels=0.0;FS=10.62;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.674;QD=14.25;ReadPosRankSum=0.857;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RNF123;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443204 GT:AD:DP:GQ:PL 0/1:10,9:19:99:301,0,352
3 49736565 rs6785549 G A 654.33 PASS AB=0.45;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.877;DB;DP=40;Dels=0.0;FS=1.495;HRun=0;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=-0.646;QD=16.36;ReadPosRankSum=-1.233;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RNF123;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443204 GT:AD:DP:GQ:PL 0/1:18,22:40:99:684,0,539
3 49737323 rs11130217 A G 122.46 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.49;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RNF123;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443204 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:155,12,0
3 49738945 rs6804655 C T 823.94 PASS AB=0.509;AC=1;AF=0.50;AN=2;BaseQRankSum=1.131;DB;DP=57;Dels=0.0;FS=13.237;HRun=1;HaplotypeScore=0.0;MQ=59.6;MQ0=0;MQRankSum=-0.656;QD=14.46;ReadPosRankSum=1.263;SNPEFF_AMINO_ACID_CHANGE=V287;SNPEFF_CODON_CHANGE=gtC/gtT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_49738924_49739041;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RNF123;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000432042 GT:AD:DP:GQ:PL 0/1:29,28:57:99:854,0,874
3 49739086 rs1491986 C T 283.14 PASS AB=0.412;AC=1;AF=0.50;AN=2;BaseQRankSum=0.342;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=-0.927;QD=16.66;ReadPosRankSum=-0.634;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RNF123;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443204 GT:AD:DP:GQ:PL 0/1:7,10:17:99:313,0,219
3 49739507 rs1491985 G C 759.74 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.53;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RNF123;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443204 GT:AD:DP:GQ:PL 1/1:0,22:22:57.19:793,57,0
3 49744392 rs3749241 A G 182.48 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=0.318;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.953;QD=11.4;ReadPosRankSum=0.106;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RNF123;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000494005 GT:AD:DP:GQ:PL 0/1:9,7:16:99:212,0,311
3 49750188 rs3749240 T A 423.18 PASS AB=0.409;AC=1;AF=0.50;AN=2;BaseQRankSum=0.401;DB;DP=22;Dels=0.0;FS=4.2;HRun=0;HaplotypeScore=2.554;MQ=56.78;MQ0=0;MQRankSum=-0.601;QD=19.24;ReadPosRankSum=0.935;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AMIGO3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000320431 GT:AD:DP:GQ:PL 0/1:9,13:22:99:453,0,278
3 49751585 rs2291542 C T 324.68 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=1.957;DB;DP=40;Dels=0.0;FS=2.917;HRun=0;HaplotypeScore=3.4872;MQ=58.25;MQ0=0;MQRankSum=0.266;QD=8.12;ReadPosRankSum=-0.36;SNPEFF_AMINO_ACID_CHANGE=D108;SNPEFF_CODON_CHANGE=gaC/gaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_49751523_49751607;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RNF123;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000433785 GT:AD:DP:GQ:PL 0/1:25,15:40:99:355,0,588
3 49751713 . C T 56.89 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.322;DP=8;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.322;QD=7.11;ReadPosRankSum=-1.92;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AMIGO3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000320431 GT:AD:DP:GQ:PL 0/1:5,3:8:86.88:87,0,159
3 49753003 rs34614773 T G 356.95 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.803;DB;DP=25;Dels=0.0;FS=1.674;HRun=1;HaplotypeScore=0.5784;MQ=59.07;MQ0=0;MQRankSum=0.693;QD=14.28;ReadPosRankSum=1.248;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AMIGO3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000320431 GT:AD:DP:GQ:PL 0/1:10,15:25:99:387,0,276
3 49753788 rs11720705 A G 2515.24 PASS AC=2;AF=1.00;AN=2;DB;DP=81;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.445;MQ=60.0;MQ0=0;QD=31.05;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AMIGO3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000320431 GT:AD:DP:GQ:PL 1/1:0,81:81:99:2548,205,0
3 49758764 rs4768 A G 2464.18 PASS AB=0.54;AC=1;AF=0.50;AN=2;BaseQRankSum=4.96;DB;DP=163;DS;Dels=0.0;FS=9.289;HRun=0;HaplotypeScore=3.5884;MQ=59.32;MQ0=0;MQRankSum=0.93;QD=15.12;ReadPosRankSum=1.164;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GMPPB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000308388 GT:AD:DP:GQ:PL 0/1:88,75:163:99:2494,0,2681
3 49760039 rs1466685 T C 1142.01 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.36;MQ0=0;QD=31.72;SNPEFF_AMINO_ACID_CHANGE=Q184R;SNPEFF_CODON_CHANGE=cAg/cGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_49760029_49760187;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GMPPB;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000308375 GT:AD:DP:GQ:PL 1/1:0,36:36:87.28:1175,87,0
3 49765483 rs2307021 C G 1194.25 PASS AB=0.535;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.235;DB;DP=103;Dels=0.0;FS=6.771;HRun=0;HaplotypeScore=3.6509;MQ=59.55;MQ0=0;MQRankSum=0.342;QD=11.59;ReadPosRankSum=-0.82;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IP6K1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000321599 GT:AD:DP:GQ:PL 0/1:54,47:103:99:1224,0,1600
3 49770032 rs3749237 G A 44.47 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=14.82;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IP6K1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000321599 GT:AD:DP:GQ:PL 0/1:1,2:3:19.62:74,0,20
3 49785133 rs7374183 G A 75.59 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.537;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=12.6;ReadPosRankSum=-0.988;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IP6K1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000498149 GT:AD:DP:GQ:PL 0/1:3,3:6:90.08:106,0,90
3 49836707 rs7629936 G A 780.26 PASS AB=0.35;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.213;DB;DP=40;Dels=0.0;FS=1.302;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.241;QD=19.51;ReadPosRankSum=0.78;SNPEFF_AMINO_ACID_CHANGE=A71;SNPEFF_CODON_CHANGE=gcC/gcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_49836680_49836870;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CDHR4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000343366 GT:AD:DP:GQ:PL 0/1:14,26:40:99:810,0,387
3 49842270 . C CA 617.90 PASS AB=0.84;AC=1;AF=0.50;AN=2;BaseQRankSum=5.289;DP=63;FS=118.095;HRun=1;HaplotypeScore=434.3224;IndelType=I;MQ=44.61;MQ0=0;MQRankSum=-5.021;QD=9.81;ReadPosRankSum=-4.877;SNPEFF_EFFECT=FRAME_SHIFT;SNPEFF_EXON_ID=exon_3_49841614_49842463;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf54;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000333323 GT:AD:DP:GQ:PL 0/1:51,10:63:99:657,0,762
3 49842881 rs11400401 T TG 154.16 PASS AB=0.769;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.419;DB;DP=20;FS=0.0;HRun=4;HaplotypeScore=40.548;IndelType=I;MQ=59.93;MQ0=0;MQRankSum=0.515;QD=7.71;ReadPosRankSum=-0.047;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf54;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000333323 GT:AD:DP:GQ:PL 0/1:14,6:20:99:193,0,376
3 49846041 rs2234385 G A 34.34 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.026;QD=8.59;ReadPosRankSum=1.026;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf54;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000333323 GT:AD:DP:GQ:PL 0/1:2,2:4:64.33:64,0,68
3 49847623 rs1799845 A G 170.49 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.398;DB;DP=24;Dels=0.0;FS=1.756;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.582;QD=7.1;ReadPosRankSum=-1.868;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBA7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460516 GT:AD:DP:GQ:PL 0/1:16,8:24:99:200,0,573
3 49849723 rs1799843 G A 327.24 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.89;DB;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.56;QD=14.87;ReadPosRankSum=0.033;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBA7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000494212 GT:AD:DP:GQ:PL 0/1:10,12:22:99:357,0,342
3 49866392 rs1128535 C T 314.65 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.954;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.817;QD=14.98;ReadPosRankSum=-0.178;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRAIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469027 GT:AD:DP:GQ:PL 0/1:9,12:21:99:345,0,298
3 49869243 rs116222707 C T 104.70 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.361;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.361;QD=11.63;ReadPosRankSum=1.159;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRAIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475495 GT:AD:DP:GQ:PL 0/1:5,4:9:99:135,0,176
3 49869631 rs13085679 G A 42.22 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=14.07;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRAIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331456 GT:AD:DP:GQ:PL 0/1:1,2:3:33.62:72,0,34
3 49878652 rs1317140 G A 73.11 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.937;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.05;MQ0=0;MQRankSum=0.0;QD=9.14;ReadPosRankSum=-0.55;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRAIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473863 GT:AD:DP:GQ:PL 0/1:4,4:8:99:103,0,138
3 49881134 rs2246832 A T 1082.76 PASS AB=0.468;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.863;DB;DP=77;Dels=0.0;FS=1.198;HRun=1;HaplotypeScore=0.734;MQ=59.76;MQ0=0;MQRankSum=1.23;QD=14.06;ReadPosRankSum=-0.403;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRAIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473863 GT:AD:DP:GQ:PL 0/1:36,41:77:99:1113,0,1102
3 49884913 rs13316065 C T 1284.78 PASS AB=0.388;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.988;DB;DP=67;Dels=0.0;FS=6.309;HRun=1;HaplotypeScore=0.5784;MQ=58.96;MQ0=0;MQRankSum=0.521;QD=19.18;ReadPosRankSum=-2.361;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRAIP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331456 GT:AD:DP:GQ:PL 0/1:26,41:67:99:1315,0,890
3 49894030 rs2276864 T C 39.61 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=13.2;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CAMKV;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296471 GT:AD:DP:GQ:PL 0/1:1,2:3:33.20:70,0,33
3 49897830 rs2681780 C T 56.86 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=0.296;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.296;QD=5.69;ReadPosRankSum=0.296;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CAMKV;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472895 GT:AD:DP:GQ:PL 0/1:7,3:10:86.86:87,0,251
3 49898000 rs2777888 A G 185.63 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.582;DB;DP=20;Dels=0.0;FS=1.74;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.116;QD=9.28;ReadPosRankSum=-1.196;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CAMKV;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472895 GT:AD:DP:GQ:PL 0/1:12,8:20:99:216,0,428
3 49898273 rs2681781 A G 1481.53 PASS AB=0.523;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.074;DB;DP=107;Dels=0.0;FS=4.965;HRun=2;HaplotypeScore=0.0;MQ=59.57;MQ0=0;MQRankSum=0.767;QD=13.85;ReadPosRankSum=0.523;SNPEFF_AMINO_ACID_CHANGE=N142;SNPEFF_CODON_CHANGE=aaT/aaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_49898149_49898285;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CAMKV;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000467248 GT:AD:DP:GQ:PL 0/1:56,51:107:99:1512,0,1836
3 49899795 rs3796386 G A 777.86 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.998;DB;DP=49;Dels=0.0;FS=2.643;HRun=0;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=0.457;QD=15.87;ReadPosRankSum=1.081;SNPEFF_AMINO_ACID_CHANGE=G9;SNPEFF_CODON_CHANGE=ggC/ggT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_49899727_49899835;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CAMKV;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000296471 GT:AD:DP:GQ:PL 0/1:21,28:49:99:808,0,651
3 49924940 rs1062633 T C 319.30 PASS AB=0.682;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.583;DB;DP=44;Dels=0.0;FS=1.238;HRun=1;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=-0.315;QD=7.26;ReadPosRankSum=-0.365;SNPEFF_AMINO_ACID_CHANGE=R1286G;SNPEFF_CODON_CHANGE=Aga/Gga;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_49924598_49924995;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MST1R;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000344206 GT:AD:DP:GQ:PL 0/1:30,14:44:99:349,0,970
3 49928691 rs7433231 T C 1306.05 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.65;SNPEFF_AMINO_ACID_CHANGE=S1146G;SNPEFF_CODON_CHANGE=Agc/Ggc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_49928630_49928739;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MST1R;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000344206 GT:AD:DP:GQ:PL 1/1:0,40:40:99:1339,105,0
3 49936102 rs2230590 T C 313.57 PASS AB=0.618;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.45;DB;DP=34;Dels=0.0;FS=14.9;HRun=0;HaplotypeScore=0.7887;MQ=59.32;MQ0=0;MQRankSum=0.682;QD=9.22;ReadPosRankSum=0.018;SNPEFF_AMINO_ACID_CHANGE=Q523R;SNPEFF_CODON_CHANGE=cAa/cGa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_49935951_49936121;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MST1R;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000296474 GT:AD:DP:GQ:PL 0/1:21,13:34:99:344,0,602
3 49949071 rs868891 A G 392.22 PASS AB=0.581;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.403;DB;DP=43;Dels=0.02;FS=18.939;HRun=2;HaplotypeScore=1.7005;MQ=58.41;MQ0=0;MQRankSum=0.014;QD=8.91;ReadPosRankSum=-0.897;SNPEFF_AMINO_ACID_CHANGE=P175;SNPEFF_CODON_CHANGE=ccT/ccC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_49948959_49949444;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MON1A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000417270 GT:AD:DP:GQ:PL 0/1:25,18:43:99:422,0,802
3 49978069 rs6772095 C T 985.74 PASS AB=0.487;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.747;DB;DP=76;Dels=0.0;FS=2.309;HRun=0;HaplotypeScore=0.0;MQ=58.53;MQ0=0;MQRankSum=0.579;QD=12.97;ReadPosRankSum=1.271;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RBM6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000266022 GT:AD:DP:GQ:PL 0/1:37,39:76:99:1016,0,1109
3 50037123 rs3774733 C G 78.07 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.537;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=13.01;ReadPosRankSum=-0.406;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RBM6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000266022 GT:AD:DP:GQ:PL 0/1:3,3:6:85.45:108,0,85
3 50091675 . G T 164.79 HaplotypeScoreFilter13 AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=0.322;DP=48;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=34.0532;MQ=45.26;MQ0=0;MQRankSum=-4.165;QD=3.43;ReadPosRankSum=1.993;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RBM6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000266022 GT:AD:DP:GQ:PL 0/1:18,30:48:99:195,0,220
3 50091679 . C T 76.77 HaplotypeScoreFilter13;QDFilter2 AB=0.49;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.011;DP=49;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=35.0515;MQ=44.9;MQ0=0;MQRankSum=-2.777;QD=1.57;ReadPosRankSum=1.99;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RBM6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000266022 GT:AD:DP:GQ:PL 0/1:24,25:49:99:107,0,243
3 50091684 . A AT 38.99 QDFilter2 AB=0.895;AC=1;AF=0.50;AN=2;BaseQRankSum=2.807;DP=51;FS=0.0;HRun=5;HaplotypeScore=403.8202;IndelType=I;MQ=46.18;MQ0=0;MQRankSum=-3.782;QD=0.76;ReadPosRankSum=-2.279;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RBM6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000266022 GT:AD:DP:GQ:PL 0/1:45,6:51:78.02:78,0,635
3 50097319 rs2245365 C A 42.05 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=14.02;ReadPosRankSum=-0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RBM6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000425608 GT:AD:DP:GQ:PL 0/1:1,2:3:32.20:72,0,32
3 50114515 rs7061 C T 757.12 PASS AB=0.469;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.952;DB;DP=49;Dels=0.0;FS=1.167;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.05;QD=15.45;ReadPosRankSum=-0.551;SNPEFF_AMINO_ACID_CHANGE=Y103;SNPEFF_CODON_CHANGE=taC/taT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_50114441_50114682;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RBM6;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000421682 GT:AD:DP:GQ:PL 0/1:23,26:49:99:787,0,663
3 50127706 rs142982401 A G 43.97 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=10.99;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RBM5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000347869 GT:AD:DP:GQ:PL 0/1:1,3:4:33.62:74,0,34
3 50129374 rs5848907 T TA 2827.87 PASS AC=2;AF=1.00;AN=2;DB;DP=61;FS=0.0;HRun=1;HaplotypeScore=267.6353;IndelType=I;MQ=59.98;MQ0=0;QD=46.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RBM5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000347869 GT:AD:DP:GQ:PL 1/1:1,60:61:99:2870,181,0
3 50129399 rs2013208 C T 1313.28 PASS AB=0.366;AC=1;AF=0.50;AN=2;BaseQRankSum=0.674;DB;DP=71;Dels=0.0;FS=1.014;HRun=0;HaplotypeScore=0.0;MQ=59.83;MQ0=0;MQRankSum=-1.667;QD=18.5;ReadPosRankSum=-1.385;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RBM5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000347869 GT:AD:DP:GQ:PL 0/1:26,45:71:99:1343,0,779
3 50131459 rs11130241 A T 49.85 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=2.219;DB;DP=9;Dels=0.0;FS=0.0;HRun=9;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.876;QD=5.54;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RBM5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000437500 GT:AD:DP:GQ:PL 0/1:5,4:9:79.84:80,0,181
3 50144951 rs1061474 T C 778.20 PASS AB=0.404;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.141;DB;DP=47;Dels=0.0;FS=8.9;HRun=1;HaplotypeScore=1.6988;MQ=57.5;MQ0=0;MQRankSum=0.965;QD=16.56;ReadPosRankSum=1.03;SNPEFF_AMINO_ACID_CHANGE=A20;SNPEFF_CODON_CHANGE=gcT/gcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_50144915_50145002;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RBM5;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000544851 GT:AD:DP:GQ:PL 0/1:19,28:47:99:808,0,612
3 50148305 rs2301166 C G 44.97 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=14.99;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RBM5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000395174 GT:AD:DP:GQ:PL 0/1:1,2:3:33.20:75,0,33
3 50153356 rs1138536 T C 650.07 PASS AB=0.479;AC=1;AF=0.50;AN=2;BaseQRankSum=2.311;DB;DP=48;Dels=0.0;FS=4.144;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.887;QD=13.54;ReadPosRankSum=0.248;SNPEFF_AMINO_ACID_CHANGE=Y369;SNPEFF_CODON_CHANGE=taT/taC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_50153339_50153413;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RBM5;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000544851 GT:AD:DP:GQ:PL 0/1:23,25:48:99:680,0,678
3 50154989 rs2624825 G A 107.68 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.729;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.39;MQ0=0;MQRankSum=0.729;QD=11.96;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RBM5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000441812 GT:AD:DP:GQ:PL 0/1:5,4:9:99:138,0,161
3 50197097 rs1046953 C T 587.88 PASS AB=0.371;AC=1;AF=0.50;AN=2;BaseQRankSum=0.638;DB;DP=35;Dels=0.0;FS=1.44;HRun=0;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=1.595;QD=16.8;ReadPosRankSum=-0.213;SNPEFF_AMINO_ACID_CHANGE=T14;SNPEFF_CODON_CHANGE=acC/acT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_50197008_50197167;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SEMA3F;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000002829 GT:AD:DP:GQ:PL 0/1:13,22:35:99:618,0,385
3 50212512 rs2624833 G T 31.35 PASS AB=0.727;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=11;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.382;QD=2.85;ReadPosRankSum=-0.566;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SEMA3F;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426511 GT:AD:DP:GQ:PL 0/1:8,3:11:61.34:61,0,230
3 50222926 rs1046956 T A 166.62 PASS AB=0.65;AC=1;AF=0.50;AN=2;BaseQRankSum=1.268;DB;DP=20;Dels=0.0;FS=4.868;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.872;QD=8.33;ReadPosRankSum=1.743;SNPEFF_AMINO_ACID_CHANGE=L404M;SNPEFF_CODON_CHANGE=Ttg/Atg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_50222876_50222964;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SEMA3F;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000413852 GT:AD:DP:GQ:PL 0/1:13,7:20:99:197,0,359
3 50223593 rs2073726 T A 84.99 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.741;DB;DP=10;Dels=0.0;FS=6.99;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.633;QD=8.5;ReadPosRankSum=-1.036;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SEMA3F;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000414301 GT:AD:DP:GQ:PL 0/1:6,4:10:99:115,0,193
3 50223977 rs11717349 C T 454.11 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=1.118;DB;DP=30;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.23;MQ0=0;MQRankSum=-0.417;QD=15.14;ReadPosRankSum=0.68;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SEMA3F;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000414301 GT:AD:DP:GQ:PL 0/1:14,16:30:99:484,0,423
3 50224225 rs12632110 A G 36.92 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.231;QD=7.38;ReadPosRankSum=1.231;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SEMA3F;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000414301 GT:AD:DP:GQ:PL 0/1:3,2:5:66.91:67,0,106
3 50225029 rs11711407 A G 64.48 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.159;DB;DP=10;Dels=0.0;FS=3.522;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.876;QD=6.45;ReadPosRankSum=0.361;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SEMA3F;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000414301 GT:AD:DP:GQ:PL 0/1:5,5:10:94.48:94,0,103
3 50251833 rs66535451 A AG 688.54 PASS AC=2;AF=1.00;AN=2;DB;DP=19;FS=0.0;HRun=2;HaplotypeScore=43.4154;IndelType=I;MQ=59.93;MQ0=0;QD=36.24;SNPEFF_EFFECT=SPLICE_SITE_ACCEPTOR;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=SLC38A3;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000445325 GT:AD:DP:GQ:PL 1/1:3,16:19:51.17:731,51,0
3 50252646 rs76644847 G T 96.65 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.72;QD=16.11;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=SLC38A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427428 GT:AD:DP:GQ:PL 0/1:2,4:6:65.24:127,0,65
3 50255663 rs35926495 C T 635.69 PASS AB=0.394;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.313;DB;DP=33;Dels=0.0;FS=3.362;HRun=0;HaplotypeScore=0.0;MQ=59.3;MQ0=0;MQRankSum=1.05;QD=19.26;ReadPosRankSum=0.792;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=SLC38A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000414604 GT:AD:DP:GQ:PL 0/1:13,20:33:99:666,0,321
3 50255666 rs56048629 C T 674.62 PASS AB=0.389;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.32;DB;DP=36;Dels=0.0;FS=1.452;HRun=2;HaplotypeScore=0.0;MQ=59.36;MQ0=0;MQRankSum=0.243;QD=18.74;ReadPosRankSum=0.925;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=SLC38A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000414604 GT:AD:DP:GQ:PL 0/1:14,22:36:99:705,0,361
3 50289170 . G A 256.39 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.681;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.2931;MQ=58.13;MQ0=0;MQRankSum=-0.692;QD=10.26;ReadPosRankSum=0.495;SNPEFF_AMINO_ACID_CHANGE=C22Y;SNPEFF_CODON_CHANGE=tGc/tAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_50289106_50289175;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GNAI2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000266027 GT:AD:DP:GQ:PL 0/1:12,12:25:99:286,0,301
3 50308718 rs4688739 A G 190.17 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.555;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.45;MQ0=0;MQRankSum=0.34;QD=12.68;ReadPosRankSum=1.682;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SEMA3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000316347 GT:AD:DP:GQ:PL 0/1:7,8:15:99:220,0,235
3 50332697 rs13100173 G A 1065.33 PASS AB=0.475;AC=1;AF=0.50;AN=2;BaseQRankSum=0.668;DB;DP=80;Dels=0.0;FS=6.011;HRun=0;HaplotypeScore=2.5422;MQ=59.42;MQ0=0;MQRankSum=-0.576;QD=13.32;ReadPosRankSum=0.229;SNPEFF_AMINO_ACID_CHANGE=H113Y;SNPEFF_CODON_CHANGE=Cac/Tac;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_50332140_50333050;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HYAL3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000336307 GT:AD:DP:GQ:PL 0/1:38,42:80:99:1095,0,1165
3 50338388 . A C 61.34 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=0.244;DP=12;Dels=0.0;FS=3.68;HRun=5;HaplotypeScore=2.7295;MQ=44.62;MQ0=0;MQRankSum=-1.788;QD=5.11;ReadPosRankSum=0.689;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HYAL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418723 GT:AD:DP:GQ:PL 0/1:7,5:12:91.33:91,0,121
3 50356290 . G A 296.82 PASS AB=0.474;AC=1;AF=0.50;AN=2;BaseQRankSum=0.857;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.449;QD=15.62;ReadPosRankSum=-1.347;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HYAL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000415028 GT:AD:DP:GQ:PL 0/1:9,10:19:99:327,0,296
3 50357869 rs709210 A C 169.06 PASS AB=0.222;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.067;DB;DP=9;Dels=0.0;FS=3.332;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.762;QD=18.78;ReadPosRankSum=-0.762;SNPEFF_AMINO_ACID_CHANGE=S18A;SNPEFF_CODON_CHANGE=Tca/Gca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_50357000_50357966;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HYAL2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000357750 GT:AD:DP:GQ:PL 0/1:2,7:9:46.69:199,0,47
3 50597092 rs1034405 G A 51 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.5;SNPEFF_AMINO_ACID_CHANGE=A110V;SNPEFF_CODON_CHANGE=gCg/gTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_50596956_50597168;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf18;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000422619 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
3 50609123 rs636168 T C 3882.77 PASS AC=2;AF=1.00;AN=2;DB;DP=114;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9832;MQ=59.8;MQ0=0;QD=34.06;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEMK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000232854 GT:AD:DP:GQ:PL 1/1:0,113:114:99:3883,286,0
3 50609624 rs2232248 T G 495.73 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.05;SNPEFF_AMINO_ACID_CHANGE=P133;SNPEFF_CODON_CHANGE=ccT/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_50609546_50609639;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEMK1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000232854 GT:AD:DP:GQ:PL 1/1:0,15:15:39.13:529,39,0
3 50615539 rs388483 G A 39.19 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=13.06;ReadPosRankSum=-0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEMK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000424388 GT:AD:DP:GQ:PL 0/1:1,2:3:33.98:69,0,34
3 50645635 rs621975 T G 580.78 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.96;MQ0=0;QD=32.27;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CISH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000348721 GT:AD:DP:GQ:PL 1/1:0,18:18:45.15:614,45,0
3 50645793 rs77555465 C G 372.43 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.83;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CISH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000348721 GT:AD:DP:GQ:PL 1/1:0,15:15:30.10:405,30,0
3 50649370 rs6768300 C G 52.08 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.36;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MAPKAPK3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000486712 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:83,6,0
3 50678001 rs608961 C T 1665.14 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9867;MQ=58.01;MQ0=0;QD=35.43;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MAPKAPK3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000457064 GT:AD:DP:GQ:PL 1/1:0,47:47:99:1698,126,0
3 50678151 rs4267639 C T 122.83 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.21;MQ0=0;QD=24.57;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MAPKAPK3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000457064 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:155,12,0
3 50683809 rs876105 T C 448.64 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.51;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MAPKAPK3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357955 GT:AD:DP:GQ:PL 1/1:0,13:13:39.12:482,39,0
3 50683977 rs876104 A G 93.60 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MAPKAPK3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357955 GT:AD:DP:GQ:PL 1/1:0,5:5:9.03:126,9,0
3 50684011 rs876103 G A 40 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MAPKAPK3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357955 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:71,6,0
3 50685642 rs9879397 A G 129.40 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.35;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MAPKAPK3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000430409 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:162,12,0
3 50915158 rs4511895 G A 75.15 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=18.79;ReadPosRankSum=-0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DOCK3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000266037 GT:AD:DP:GQ:PL 0/1:1,3:4:20.46:105,0,20
3 51112709 . T G 173.72 PASS AB=0.194;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.28;DP=36;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=10.9993;MQ=53.95;MQ0=0;MQRankSum=0.531;QD=4.83;ReadPosRankSum=1.592;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DOCK3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000266037 GT:AD:DP:GQ:PL 0/1:7,29:36:52.37:204,0,52
3 51246360 rs4301044 A G 1604.53 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.2;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DOCK3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000266037 GT:AD:DP:GQ:PL 1/1:0,42:42:99:1638,123,0
3 51264475 rs922612 A G 41.81 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.9;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DOCK3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000266037 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:73,6,0
3 51273711 rs1480362 A G 1446.83 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9998;MQ=58.2;MQ0=0;QD=37.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DOCK3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000266037 GT:AD:DP:GQ:PL 1/1:0,39:39:99:1480,114,0
3 51273773 rs1480361 T C 2816.84 PASS AC=2;AF=1.00;AN=2;DB;DP=89;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.4679;MQ=59.48;MQ0=0;QD=31.65;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DOCK3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000266037 GT:AD:DP:GQ:PL 1/1:0,89:89:99:2850,217,0
3 51273992 rs2291162 C G 378.82 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.66;MQ0=0;QD=37.88;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DOCK3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000266037 GT:AD:DP:GQ:PL 1/1:0,10:10:30.10:412,30,0
3 51274721 rs7634799 T A 156.34 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=54.65;MQ0=0;QD=17.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DOCK3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000266037 GT:AD:DP:GQ:PL 1/1:0,9:9:15.05:189,15,0
3 51274902 rs11386090 T TA 2601.77 PASS AB=0.671;AC=1;AF=0.50;AN=2;BaseQRankSum=-7.057;DB;DP=143;FS=1.42;HRun=1;HaplotypeScore=356.9826;IndelType=I;MQ=59.91;MQ0=0;MQRankSum=0.137;QD=18.19;ReadPosRankSum=-0.294;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DOCK3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000266037 GT:AD:DP:GQ:PL 0/1:73,70:143:99:2641,0,2227
3 51393706 rs35251332 C CAG 4463.18 PASS AC=2;AF=1.00;AN=2;DB;DP=75;FS=0.0;HRun=0;HaplotypeScore=184.9645;IndelType=I;MQ=60.81;MQ0=0;QD=59.51;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DOCK3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000266037 GT:AD:DP:GQ:PL 1/1:0,74:75:99:4463,226,0
3 51395571 rs1542574 C T 1881.54 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.5;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DOCK3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000266037 GT:AD:DP:GQ:PL 1/1:0,53:53:99:1915,144,0
3 51418348 rs2241784 G A 1213.25 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9979;MQ=58.59;MQ0=0;QD=36.77;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DOCK3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000266037 GT:AD:DP:GQ:PL 1/1:0,33:33:96.30:1246,96,0
3 51422766 rs13091931 G T 33.74 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=29.0;MQ0=0;QD=16.87;SNPEFF_AMINO_ACID_CHANGE=R1M;SNPEFF_CODON_CHANGE=aGg/aTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_51422703_51422867;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MANF;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000273628 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:65,6,0
3 51426111 . A G 30.90 PASS AC=2;AF=1.00;AN=2;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=15.45;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DOCK3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000266037 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:62,6,0
3 51430330 rs79092917 G A 1028.61 PASS AB=0.477;AC=1;AF=0.50;AN=2;BaseQRankSum=2.082;DB;DP=65;Dels=0.0;FS=0.938;HRun=1;HaplotypeScore=0.9665;MQ=60.0;MQ0=0;MQRankSum=0.493;QD=15.82;ReadPosRankSum=-0.256;SNPEFF_AMINO_ACID_CHANGE=Q173;SNPEFF_CODON_CHANGE=caG/caA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_51429569_51431933;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RBM15B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000541145 GT:AD:DP:GQ:PL 0/1:31,34:65:99:1059,0,866
3 51440496 . G T 215.54 HaplotypeScoreFilter13 AB=0.267;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.61;DP=45;Dels=0.0;FS=6.368;HRun=2;HaplotypeScore=15.8175;MQ=46.8;MQ0=0;MQRankSum=-2.087;QD=4.79;ReadPosRankSum=2.743;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VPRBP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000335891 GT:AD:DP:GQ:PL 0/1:12,33:45:99:246,0,158
3 51460010 rs62257541 G A 198.10 PASS AB=0.143;AC=1;AF=0.50;AN=2;BaseQRankSum=0.742;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.742;QD=28.3;ReadPosRankSum=0.742;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VPRBP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000335891 GT:AD:DP:GQ:PL 0/1:1,6:7:10.48:228,0,10
3 51477627 rs7634991 C T 65.17 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=1.036;DB;DP=11;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=3.1438;MQ=57.87;MQ0=0;MQRankSum=0.633;QD=5.92;ReadPosRankSum=0.365;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VPRBP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000335891 GT:AD:DP:GQ:PL 0/1:6,5:11:95.16:95,0,165
3 51517625 rs72112939 T TTG 441.63 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.771;DB;DP=25;FS=0.0;HRun=0;HaplotypeScore=189.103;IndelType=I;MQ=43.07;MQ0=0;MQRankSum=-1.349;QD=17.67;ReadPosRankSum=0.578;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VPRBP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000335891 GT:AD:DP:GQ:PL 1/1:15,5:25:18.73:484,19,0
3 51697493 rs904145 A G 407.97 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.05;MQ0=0;QD=34.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=RAD54L2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296477 GT:AD:DP:GQ:PL 1/1:0,12:12:36.11:441,36,0
3 51708144 rs73080631 G T 31.41 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=0.922;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.922;QD=3.93;ReadPosRankSum=0.922;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TEX264;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341333 GT:AD:DP:GQ:PL 0/1:6,2:8:61.40:61,0,166
3 51812952 rs11130296 C T 1157.48 PASS AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=2.786;DB;DP=95;Dels=0.0;FS=2.744;HRun=0;HaplotypeScore=0.0;MQ=59.51;MQ0=0;MQRankSum=-0.133;QD=12.18;ReadPosRankSum=-0.485;SNPEFF_AMINO_ACID_CHANGE=R4Q;SNPEFF_CODON_CHANGE=cGg/cAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_51812580_51813009;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IQCF6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000398780 GT:AD:DP:GQ:PL 0/1:50,45:95:99:1187,0,1432
3 51895693 rs114750576 G A 331.33 PASS AB=0.476;AC=1;AF=0.50;AN=2;BaseQRankSum=1.514;DB;DP=21;Dels=0.0;FS=7.025;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.303;QD=15.78;ReadPosRankSum=0.106;SNPEFF_AMINO_ACID_CHANGE=R4Q;SNPEFF_CODON_CHANGE=cGa/cAa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_51895654_51895700;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=IQCF2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000333127 GT:AD:DP:GQ:PL 0/1:10,11:21:99:361,0,271
3 51895850 rs986539 C T 1154.70 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.08;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IQCF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000535733 GT:AD:DP:GQ:PL 1/1:0,32:32:87.29:1188,87,0
3 51907736 rs7635409 A G 1670.05 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.66;MQ0=0;QD=32.12;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IQCF5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398778 GT:AD:DP:GQ:PL 1/1:0,52:52:99:1703,126,0
3 51908226 rs1505403 T C 752.56 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.84;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IQCF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000535733 GT:AD:DP:GQ:PL 1/1:0,21:21:60.17:786,60,0
3 51908430 rs6794320 T C 416.84 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.74;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IQCF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000535733 GT:AD:DP:GQ:PL 1/1:0,12:12:36.11:450,36,0
3 51929360 rs111348188 GA G 537.02 PASS AC=2;AF=1.00;AN=2;DB;DP=21;FS=0.0;HRun=7;HaplotypeScore=83.24;IndelType=D;MQ=59.35;MQ0=0;QD=25.57;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IQCF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310914 GT:AD:DP:GQ:PL 1/1:1,20:21:57.13:579,57,0
3 51936949 rs7635125 T C 5194.24 PASS AC=2;AF=1.00;AN=2;DB;DP=145;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.6988;MQ=59.84;MQ0=0;QD=35.82;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IQCF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310914 GT:AD:DP:GQ:PL 1/1:0,144:145:99:5194,388,0
3 51975577 rs929533 C T 466.99 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.226;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.17;MQ0=0;MQRankSum=1.509;QD=16.68;ReadPosRankSum=-1.787;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RRP9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000232888 GT:AD:DP:GQ:PL 0/1:12,16:28:99:497,0,367
3 51978220 rs28547534 A G 5908.93 PASS AC=2;AF=1.00;AN=2;DB;DP=189;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9707;MQ=59.54;MQ0=0;QD=31.26;SNPEFF_AMINO_ACID_CHANGE=H100R;SNPEFF_CODON_CHANGE=cAc/cGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_51978105_51978233;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PARP3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000417220 GT:AD:DP:GQ:PL 1/1:1,188:189:99:5909,451,0
3 51978640 rs4687792 G A 610.67 PASS AB=0.646;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.653;DB;DP=65;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.6517;MQ=60.0;MQ0=0;MQRankSum=-0.158;QD=9.39;ReadPosRankSum=-0.665;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PARP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398755 GT:AD:DP:GQ:PL 0/1:42,23:65:99:641,0,1361
3 51981605 rs137993941 G T 67.84 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.231;QD=13.57;ReadPosRankSum=0.358;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PARP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470601 GT:AD:DP:GQ:PL 0/1:2,3:5:53.34:98,0,53
3 51990315 rs28651222 A G 83.81 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.95;SNPEFF_AMINO_ACID_CHANGE=H216R;SNPEFF_CODON_CHANGE=cAc/cGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_51989330_51991509;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR62;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000322241 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:116,9,0
3 52236762 rs352169 G A 127.61 PASS AB=0.706;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.583;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.318;QD=7.51;ReadPosRankSum=-0.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALAS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310271 GT:AD:DP:GQ:PL 0/1:12,5:17:99:158,0,379
3 52237970 rs352168 C T 793.87 PASS AB=0.578;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.299;DB;DP=64;Dels=0.0;FS=9.332;HRun=1;HaplotypeScore=1.7465;MQ=60.0;MQ0=0;MQRankSum=0.896;QD=12.4;ReadPosRankSum=0.368;SNPEFF_AMINO_ACID_CHANGE=I173;SNPEFF_CODON_CHANGE=atC/atT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_52237879_52238028;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALAS1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000310271 GT:AD:DP:GQ:PL 0/1:37,27:64:99:824,0,1187
3 52238656 rs352167 T C 169.60 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=1.356;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.922;QD=9.98;ReadPosRankSum=-0.705;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALAS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310271 GT:AD:DP:GQ:PL 0/1:10,6:17:99:200,0,353
3 52238677 rs352166 C T 231.45 PASS AB=0.609;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.094;DB;DP=23;Dels=0.0;FS=4.075;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.283;QD=10.06;ReadPosRankSum=0.472;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALAS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310271 GT:AD:DP:GQ:PL 0/1:14,9:23:99:261,0,509
3 52256697 rs352140 C T 403.26 PASS AB=0.517;AC=1;AF=0.50;AN=2;BaseQRankSum=2.422;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.938;QD=13.91;ReadPosRankSum=1.331;SNPEFF_AMINO_ACID_CHANGE=P545;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_52255096_52258328;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TLR9;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000360658 GT:AD:DP:GQ:PL 0/1:15,14:29:99:433,0,365
3 52268866 rs353547 T C 155.67 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=1.92;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.322;QD=19.46;ReadPosRankSum=1.221;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TWF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000305533 GT:AD:DP:GQ:PL 0/1:3,5:8:98.44:186,0,98
3 52325759 rs2276834 A G 315.53 PASS AB=0.581;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.656;DB;DP=31;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=-0.402;QD=10.18;ReadPosRankSum=-1.545;SNPEFF_EFFECT=SPLICE_SITE_ACCEPTOR;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GLYCTK;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000486393 GT:AD:DP:GQ:PL 0/1:18,13:31:99:346,0,601
3 52392389 rs116084959 G C 33.74 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=47.12;MQ0=0;QD=16.87;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=DNAH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000497875 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:65,6,0
3 52407041 rs1546737 C T 653.68 PASS AB=0.463;AC=1;AF=0.50;AN=2;BaseQRankSum=4.493;DB;DP=41;Dels=0.0;FS=2.318;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.662;QD=15.94;ReadPosRankSum=0.099;SNPEFF_AMINO_ACID_CHANGE=H2319;SNPEFF_CODON_CHANGE=caC/caT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_52406912_52407069;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=DNAH1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000420323 GT:AD:DP:GQ:PL 0/1:19,22:41:99:684,0,479
3 52407339 rs142472916 C T 51.33 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.406;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.5577;MQ=53.03;MQ0=0;MQRankSum=-1.537;QD=7.33;ReadPosRankSum=-1.537;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=DNAH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420323 GT:AD:DP:GQ:PL 0/1:3,3:7:81.32:81,0,88
3 52415865 rs770284 A G 153.12 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.62;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=DNAH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420323 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:186,15,0
3 52430698 rs365048 A G 2832.72 PASS AC=2;AF=1.00;AN=2;DB;DP=94;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=59.75;MQ0=0;QD=30.14;SNPEFF_AMINO_ACID_CHANGE=H3832R;SNPEFF_CODON_CHANGE=cAt/cGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_52430634_52430813;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=DNAH1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000420323 GT:AD:DP:GQ:PL 1/1:0,94:94:99:2866,226,0
3 52442670 rs143273211 A C 53.43 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=10.69;ReadPosRankSum=-0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BAP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296288 GT:AD:DP:GQ:PL 0/1:2,3:5:66.21:83,0,66
3 52453893 rs498778 C T 777.71 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.81;SNPEFF_AMINO_ACID_CHANGE=G42;SNPEFF_CODON_CHANGE=ggC/ggT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_52453849_52453893;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PHF7;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000454052 GT:AD:DP:GQ:PL 1/1:0,23:23:63.19:811,63,0
3 52456973 rs2272088 A G 435.22 PASS AB=0.484;AC=1;AF=0.50;AN=2;BaseQRankSum=1.286;DB;DP=31;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.6651;MQ=59.25;MQ0=0;MQRankSum=-0.207;QD=14.04;ReadPosRankSum=-0.249;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PHF7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000459935 GT:AD:DP:GQ:PL 0/1:15,16:31:99:465,0,508
3 52469628 rs61729091 C T 886.19 PASS AB=0.483;AC=1;AF=0.50;AN=2;BaseQRankSum=1.445;DB;DP=58;Dels=0.0;FS=7.398;HRun=1;HaplotypeScore=0.5784;MQ=59.6;MQ0=0;MQRankSum=0.088;QD=15.28;ReadPosRankSum=1.397;SNPEFF_AMINO_ACID_CHANGE=E780;SNPEFF_CODON_CHANGE=gaG/gaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_52467069_52470089;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SEMA3G;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000231721 GT:AD:DP:GQ:PL 0/1:28,30:58:99:916,0,822
3 52471942 rs82825 G A 437.06 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.62;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SEMA3G;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475739 GT:AD:DP:GQ:PL 1/1:0,13:13:36.12:470,36,0
3 52473728 . C T 554.75 PASS AB=0.45;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.563;DP=40;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.734;MQ=59.42;MQ0=0;MQRankSum=0.693;QD=13.87;ReadPosRankSum=0.612;SNPEFF_AMINO_ACID_CHANGE=E479K;SNPEFF_CODON_CHANGE=Gaa/Aaa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_52473696_52473787;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SEMA3G;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000231721 GT:AD:DP:GQ:PL 0/1:18,22:40:99:585,0,535
3 52476246 rs34900551 G A 109.55 PASS AB=0.727;AC=1;AF=0.50;AN=2;BaseQRankSum=2.101;DB;DP=23;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=-0.553;QD=4.76;ReadPosRankSum=-1.29;SNPEFF_AMINO_ACID_CHANGE=A138;SNPEFF_CODON_CHANGE=gcC/gcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_52476201_52476320;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SEMA3G;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000231721 GT:AD:DP:GQ:PL 0/1:16,6:23:99:140,0,509
3 52492085 rs4687614 G A 700.99 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.89;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NISCH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000345716 GT:AD:DP:GQ:PL 1/1:0,19:19:57.18:734,57,0
3 52492707 rs1541495 T C 1628.27 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.09;MQ0=0;QD=35.4;SNPEFF_AMINO_ACID_CHANGE=N69;SNPEFF_CODON_CHANGE=aaT/aaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_52492678_52492860;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NISCH;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000345716 GT:AD:DP:GQ:PL 1/1:0,45:46:99:1661,123,0
3 52505758 rs3065763 G GAT 319.31 PASS AC=2;AF=1.00;AN=2;DB;DP=6;FS=0.0;HRun=0;HaplotypeScore=16.6174;IndelType=I;MQ=61.78;MQ0=0;QD=53.22;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NISCH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000345716 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:361,18,0
3 52506282 rs4312651 A G 1224.39 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.734;MQ=58.74;MQ0=0;QD=33.09;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NISCH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000345716 GT:AD:DP:GQ:PL 1/1:0,37:37:93.29:1257,93,0
3 52506426 rs6784615 C T 1108.68 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.5;MQ0=0;QD=35.76;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NISCH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000488157 GT:AD:DP:GQ:PL 1/1:0,31:31:84.28:1142,84,0
3 52506491 rs6445486 A G 577.66 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.7254;MQ=56.04;MQ0=0;QD=32.09;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NISCH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000488157 GT:AD:DP:GQ:PL 1/1:0,18:18:45.15:611,45,0
3 52507719 rs13094915 G C 1181.25 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.74;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NISCH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000488157 GT:AD:DP:GQ:PL 1/1:0,34:34:87.29:1214,87,0
3 52510592 rs9856575 G A 854.80 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.48;SNPEFF_AMINO_ACID_CHANGE=V299I;SNPEFF_CODON_CHANGE=Gtc/Atc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_52510463_52510615;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NISCH;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000345716 GT:AD:DP:GQ:PL 1/1:0,29:29:66.21:888,66,0
3 52510697 rs7620015 G A 275.39 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.42;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NISCH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000488157 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:308,24,0
3 52512318 rs2109559 A G 1888.05 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9983;MQ=59.78;MQ0=0;QD=33.72;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NISCH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481211 GT:AD:DP:GQ:PL 1/1:0,56:56:99:1921,144,0
3 52513898 rs41292364 G C 179.47 PASS AB=0.409;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.507;DB;DP=22;Dels=0.0;FS=2.304;HRun=0;HaplotypeScore=0.0;MQ=56.78;MQ0=0;MQRankSum=0.193;QD=8.16;ReadPosRankSum=-0.116;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NISCH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464280 GT:AD:DP:GQ:PL 0/1:9,13:22:99:209,0,236
3 52513940 rs4687618 T C 165.96 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.95;MQ0=0;QD=20.74;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NISCH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464280 GT:AD:DP:GQ:PL 1/1:0,8:8:18.04:199,18,0
3 52518786 rs4687619 T C 153.39 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.57;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NISCH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420808 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:186,15,0
3 52522659 rs887514 T C 110.12 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.02;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NISCH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460759 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:143,12,0
3 52523405 rs887515 C T 733.39 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.92;SNPEFF_AMINO_ACID_CHANGE=A1056V;SNPEFF_CODON_CHANGE=gCg/gTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_52523352_52523694;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NISCH;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000345716 GT:AD:DP:GQ:PL 1/1:0,21:21:57.19:766,57,0
3 52524480 rs6445497 A T 52.28 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.14;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NISCH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460759 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
3 52524574 rs6810027 C A 247.60 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.05;MQ0=0;QD=30.95;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NISCH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460759 GT:AD:DP:GQ:PL 1/1:0,8:8:21.07:281,21,0
3 52524974 rs4687621 A C 501.29 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.42;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NISCH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460759 GT:AD:DP:GQ:PL 1/1:0,15:15:45.11:534,45,0
3 52536308 rs758801 A C 144.80 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=1.92;DB;DP=8;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.956;QD=18.1;ReadPosRankSum=-0.956;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STAB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479355 GT:AD:DP:GQ:PL 0/1:3,5:8:85.51:175,0,86
3 52537969 rs4687545 T C 558.80 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.61;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STAB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479355 GT:AD:DP:GQ:PL 1/1:0,21:21:45.14:592,45,0
3 52544470 rs9835659 A G 727.80 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=60.0;MQ0=0;QD=36.39;SNPEFF_AMINO_ACID_CHANGE=M912V;SNPEFF_CODON_CHANGE=Atg/Gtg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_52544365_52544523;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STAB1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000321725 GT:AD:DP:GQ:PL 1/1:0,20:20:60.16:761,60,0
3 52546116 rs758802 C G 45.13 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=15.04;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STAB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481607 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:76,6,0
3 52546487 rs7644763 C T 863.34 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.53;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STAB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481607 GT:AD:DP:GQ:PL 1/1:0,25:25:69.22:896,69,0
3 52546820 rs2015971 C T 1142.03 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.32;MQ0=0;QD=33.59;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STAB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481607 GT:AD:DP:GQ:PL 1/1:0,34:34:90.27:1175,90,0
3 52551265 rs66824127 T C 522.86 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=60.0;MQ0=0;QD=32.68;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STAB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000321725 GT:AD:DP:GQ:PL 1/1:0,16:16:42.14:556,42,0
3 52551284 rs67409736 G T 703.54 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.31;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STAB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000321725 GT:AD:DP:GQ:PL 1/1:0,24:24:57.17:737,57,0
3 52552916 . A G 34.18 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.72;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.04;MQ0=0;MQRankSum=-0.72;QD=5.7;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STAB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000321725 GT:AD:DP:GQ:PL 0/1:4,2:6:64.17:64,0,100
3 52553625 rs112646045 TGTAA T 1591.17 PASS AC=2;AF=1.00;AN=2;DB;DP=30;FS=0.0;HRun=0;HaplotypeScore=159.4355;IndelType=D;MQ=53.18;MQ0=0;QD=53.04;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NT5DC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307076 GT:AD:DP:GQ:PL 1/1:1,29:30:87.30:1633,87,0
3 52554304 rs7630214 G C 2061.78 PASS AC=2;AF=1.00;AN=2;DB;DP=71;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.61;MQ0=0;QD=29.04;SNPEFF_AMINO_ACID_CHANGE=A1833P;SNPEFF_CODON_CHANGE=Gcc/Ccc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_52554220_52554306;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STAB1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000321725 GT:AD:DP:GQ:PL 1/1:0,70:71:99:2095,169,0
3 52555316 rs13081028 G A 569.81 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.8499;MQ=60.0;MQ0=0;QD=31.66;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NT5DC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307076 GT:AD:DP:GQ:PL 1/1:0,18:18:45.14:603,45,0
3 52555957 rs9853056 T C 341.13 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.24;SNPEFF_AMINO_ACID_CHANGE=R2087;SNPEFF_CODON_CHANGE=cgT/cgC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_52555860_52555967;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STAB1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000321725 GT:AD:DP:GQ:PL 1/1:0,13:13:33.08:374,33,0
3 52556890 rs4434138 A G 1574.76 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.752;DB;DP=56;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.7129;MQ=58.84;MQ0=0;MQRankSum=1.079;QD=28.12;ReadPosRankSum=-1.471;SNPEFF_AMINO_ACID_CHANGE=I2282V;SNPEFF_CODON_CHANGE=Ata/Gta;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_52556791_52556956;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STAB1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000321725 GT:AD:DP:GQ:PL 1/1:1,55:56:99:1608,100,0
3 52557038 rs4234633 C T 1924.80 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.673;DB;DP=61;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7262;MQ=58.39;MQ0=0;MQRankSum=1.434;QD=31.55;ReadPosRankSum=-0.896;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NT5DC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307076 GT:AD:DP:GQ:PL 1/1:1,60:61:99:1958,156,0
3 52558008 rs13303 T C 838.87 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=58.13;MQ0=0;QD=33.55;SNPEFF_AMINO_ACID_CHANGE=M2506T;SNPEFF_CODON_CHANGE=aTg/aCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_52557887_52558033;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STAB1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000321725 GT:AD:DP:GQ:PL 1/1:0,25:25:66.21:872,66,0
3 52558133 rs13621 T C 2139.37 PASS AC=2;AF=1.00;AN=2;DB;DP=71;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.02;MQ0=0;QD=30.13;SNPEFF_AMINO_ACID_CHANGE=D2520;SNPEFF_CODON_CHANGE=gaT/gaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_52558116_52558229;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STAB1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000321725 GT:AD:DP:GQ:PL 1/1:0,71:71:99:2172,171,0
3 52558904 rs34005367 A T 690.60 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.89;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NT5DC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471522 GT:AD:DP:GQ:PL 1/1:0,21:21:54.16:724,54,0
3 52561779 rs11711421 C T 1411.68 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=59.42;MQ0=0;QD=35.29;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NT5DC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471522 GT:AD:DP:GQ:PL 1/1:0,40:40:99:1445,108,0
3 52568805 rs7639267 G T 675.73 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.54;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C3orf78;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000482728 GT:AD:DP:GQ:PL 1/1:0,18:18:54.16:709,54,0
3 52584431 rs34372721 T TCTC 702.21 PASS AB=0.684;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.093;DB;DP=26;FS=0.0;HRun=0;HaplotypeScore=79.934;IndelType=I;MQ=59.53;MQ0=0;MQRankSum=0.523;QD=27.01;ReadPosRankSum=-0.031;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PBRM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000423351 GT:AD:DP:GQ:PL 0/1:14,12:26:99:741,0,475
3 52584715 rs2878628 A G 650.08 PASS AB=0.367;AC=1;AF=0.50;AN=2;BaseQRankSum=0.528;DB;DP=31;Dels=0.0;FS=1.895;HRun=2;HaplotypeScore=1.3123;MQ=59.25;MQ0=0;MQRankSum=-0.069;QD=20.97;ReadPosRankSum=-0.115;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PBRM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000423351 GT:AD:DP:GQ:PL 0/1:11,19:31:99:680,0,287
3 52584787 rs2251219 T C 603.99 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.844;DB;DP=40;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.5784;MQ=59.42;MQ0=0;MQRankSum=1.229;QD=15.1;ReadPosRankSum=-0.14;SNPEFF_AMINO_ACID_CHANGE=P1445;SNPEFF_CODON_CHANGE=ccA/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_52584763_52584833;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PBRM1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000337303 GT:AD:DP:GQ:PL 0/1:15,25:40:99:634,0,393
3 52597664 rs2289249 G A 35.61 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=7.12;ReadPosRankSum=-0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C3orf78;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000476842 GT:AD:DP:GQ:PL 0/1:3,2:5:65.60:66,0,113
3 52610415 rs7652191 T C 304.21 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.37;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.555;QD=25.35;ReadPosRankSum=-0.185;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C3orf78;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000476842 GT:AD:DP:GQ:PL 0/1:3,9:12:87.60:334,0,88
3 52610651 rs17264436 T A 741.36 PASS AB=0.593;AC=1;AF=0.50;AN=2;BaseQRankSum=0.64;DB;DP=59;Dels=0.0;FS=3.737;HRun=0;HaplotypeScore=0.0;MQ=59.61;MQ0=0;MQRankSum=-0.1;QD=12.57;ReadPosRankSum=-0.147;SNPEFF_AMINO_ACID_CHANGE=P1167;SNPEFF_CODON_CHANGE=ccA/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_52610557_52610714;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PBRM1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000356770 GT:AD:DP:GQ:PL 0/1:35,24:59:99:771,0,1134
3 52637486 rs2276824 C G 427.86 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.471;DB;DP=25;Dels=0.0;FS=3.979;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.915;QD=17.11;ReadPosRankSum=0.527;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PBRM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296302 GT:AD:DP:GQ:PL 0/1:10,15:25:99:458,0,310
3 52643307 rs3733045 A G 617.60 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=0.397;DB;DP=33;Dels=0.0;FS=5.089;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=-0.794;QD=18.72;ReadPosRankSum=0.555;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PBRM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296302 GT:AD:DP:GQ:PL 0/1:12,21:33:99:648,0,364
3 52643685 rs3755806 T C 1115.24 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.066;DB;DP=56;Dels=0.0;FS=7.829;HRun=0;HaplotypeScore=0.0;MQ=59.25;MQ0=0;MQRankSum=-0.575;QD=19.92;ReadPosRankSum=0.779;SNPEFF_AMINO_ACID_CHANGE=T696;SNPEFF_CODON_CHANGE=acA/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_52643329_52643971;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PBRM1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000446103 GT:AD:DP:GQ:PL 0/1:21,35:56:99:1145,0,624
3 52676065 rs11719685 C T 1114.25 HaplotypeScoreFilter13 AB=0.558;AC=1;AF=0.50;AN=2;BaseQRankSum=2.223;DB;DP=139;Dels=0.03;FS=9.166;HRun=0;HaplotypeScore=28.5824;MQ=57.26;MQ0=0;MQRankSum=0.713;QD=7.74;ReadPosRankSum=-0.53;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PBRM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296302 GT:AD:DP:GQ:PL 0/1:72,57:139:99:1144,0,1310
3 52676190 rs11130313 A C 63.31 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.122;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.152;QD=3.96;ReadPosRankSum=-0.303;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PBRM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296302 GT:AD:DP:GQ:PL 0/1:12,4:16:93.30:93,0,427
3 52682205 rs34757451 G A 140.27 PASS AB=0.222;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.179;DB;DP=9;Dels=0.0;FS=6.532;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.179;QD=15.59;ReadPosRankSum=-0.762;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PBRM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000431678 GT:AD:DP:GQ:PL 0/1:2,7:9:58.83:170,0,59
3 52692124 rs2336149 G A 381.58 PASS AB=0.629;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.826;DB;DP=35;Dels=0.0;FS=2.846;HRun=2;HaplotypeScore=0.9987;MQ=59.34;MQ0=0;MQRankSum=0.427;QD=10.9;ReadPosRankSum=-0.666;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PBRM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420148 GT:AD:DP:GQ:PL 0/1:22,13:35:99:412,0,776
3 52692359 rs2590846 C G 229.23 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.925;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.555;QD=19.1;ReadPosRankSum=-0.555;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PBRM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000420148 GT:AD:DP:GQ:PL 0/1:3,9:12:96.74:259,0,97
3 52720080 rs1108842 A C 143.55 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=0.583;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.718;QD=9.57;ReadPosRankSum=0.583;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_3_52720032_52720218;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GNL3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000394799 GT:AD:DP:GQ:PL 0/1:8,7:15:99:174,0,199
3 52721305 rs11177 G A 592.73 PASS AB=0.596;AC=1;AF=0.50;AN=2;BaseQRankSum=3.152;DB;DP=52;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.3667;MQ=60.0;MQ0=0;MQRankSum=1.25;QD=11.4;ReadPosRankSum=0.746;SNPEFF_AMINO_ACID_CHANGE=R27Q;SNPEFF_CODON_CHANGE=cGg/cAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_52721262_52721399;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GNL3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000394799 GT:AD:DP:GQ:PL 0/1:31,21:52:99:623,0,957
3 52722266 rs33998548 AT A 222.52 PASS AB=0.606;AC=1;AF=0.50;AN=2;BaseQRankSum=1.845;DB;DP=20;FS=0.0;HRun=10;HaplotypeScore=60.0115;IndelType=D;MQ=59.39;MQ0=0;MQRankSum=-0.896;QD=11.13;ReadPosRankSum=2.688;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GNL3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460073 GT:AD:DP:GQ:PL 0/1:7,13:20:99:262,0,110
3 52725771 rs35315313 G T 69.63 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.937;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=50.15;MQ0=0;MQRankSum=0.0;QD=9.95;ReadPosRankSum=-0.55;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GLT8D1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000266014 GT:AD:DP:GQ:PL 0/1:3,4:7:69.72:100,0,70
3 52726695 rs6762813 C T 361.02 PASS AB=0.586;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.007;DB;DP=29;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.686;QD=12.45;ReadPosRankSum=0.686;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GLT8D1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000266014 GT:AD:DP:GQ:PL 0/1:17,12:29:99:391,0,625
3 52727257 rs2289247 G A 1296.40 PASS AB=0.495;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.237;DB;DP=91;Dels=0.0;FS=1.97;HRun=0;HaplotypeScore=0.0;MQ=59.49;MQ0=0;MQRankSum=0.607;QD=14.25;ReadPosRankSum=-0.335;SNPEFF_AMINO_ACID_CHANGE=V355M;SNPEFF_CODON_CHANGE=Gtg/Atg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_52727203_52727345;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GNL3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000394799 GT:AD:DP:GQ:PL 0/1:45,46:91:99:1326,0,1427
3 52728312 rs34699584 A AT 203.95 PASS AB=0.679;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.534;DB;DP=17;FS=0.0;HRun=10;HaplotypeScore=48.362;IndelType=I;MQ=53.32;MQ0=1;MQRankSum=-0.295;QD=10.73;ReadPosRankSum=0.648;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GLT8D1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000266014 GT:AD:DP:GQ:PL 0/1:9,9:17:99:243,0,102
3 52728804 rs6976 C T 548.78 PASS AB=0.273;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.553;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.553;QD=24.94;ReadPosRankSum=-0.405;SNPEFF_AMINO_ACID_CHANGE=V221M;SNPEFF_CODON_CHANGE=Gtg/Atg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_52728784_52728945;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GLT8D1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000394786 GT:AD:DP:GQ:PL 0/1:6,16:22:99:579,0,180
3 52730184 . T C 262.78 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=2.007;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=58.45;MQ0=0;MQRankSum=0.865;QD=17.52;ReadPosRankSum=0.865;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GLT8D1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464705 GT:AD:DP:GQ:PL 0/1:6,9:15:99:293,0,190
3 52731598 rs3733041 T C 144.41 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.307;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=16.05;ReadPosRankSum=-0.361;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GLT8D1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464705 GT:AD:DP:GQ:PL 0/1:4,5:9:99:174,0,138
3 52741581 rs34636695 AT A 144.29 PASS AB=0.677;AC=1;AF=0.50;AN=2;BaseQRankSum=3.134;DB;DP=21;FS=0.0;HRun=11;HaplotypeScore=55.0801;IndelType=D;MQ=60.0;MQ0=0;MQRankSum=0.669;QD=6.87;ReadPosRankSum=2.429;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEK4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233027 GT:AD:DP:GQ:PL 0/1:11,10:21:99:183,0,289
3 52771468 rs6445535 T C 57.53 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.37;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.185;QD=4.79;ReadPosRankSum=-0.555;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEK4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000383721 GT:AD:DP:GQ:PL 0/1:9,3:12:87.52:88,0,329
3 52778051 rs2286800 C T 179.10 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.365;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.133;QD=17.91;ReadPosRankSum=-0.633;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEK4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233027 GT:AD:DP:GQ:PL 0/1:4,6:10:99:209,0,138
3 52778347 rs2268026 T C 1127.17 PASS AB=0.506;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.963;DB;DP=79;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=0.78;QD=14.27;ReadPosRankSum=1.269;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEK4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000233027 GT:AD:DP:GQ:PL 0/1:40,39:79:99:1157,0,1343
3 52797634 rs1029871 G C 1077.01 PASS AB=0.609;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.122;DB;DP=93;Dels=0.0;FS=14.803;HRun=0;HaplotypeScore=1.5317;MQ=59.05;MQ0=0;MQRankSum=1.195;QD=11.58;ReadPosRankSum=0.355;SNPEFF_AMINO_ACID_CHANGE=P136A;SNPEFF_CODON_CHANGE=Cca/Gca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_52797486_52797640;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEK4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000461689 GT:AD:DP:GQ:PL 0/1:56,36:93:99:1107,0,1751
3 52800284 rs2230535 T C 443.83 PASS AB=0.512;AC=1;AF=0.50;AN=2;BaseQRankSum=1.096;DB;DP=43;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.239;QD=10.32;ReadPosRankSum=-1.297;SNPEFF_AMINO_ACID_CHANGE=L156;SNPEFF_CODON_CHANGE=ttA/ttG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_52800194_52800391;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEK4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000233027 GT:AD:DP:GQ:PL 0/1:22,21:43:99:474,0,690
3 52802402 rs2230534 A C 2229.57 PASS AB=0.463;AC=1;AF=0.50;AN=2;BaseQRankSum=-6.933;DB;DP=147;Dels=0.0;FS=1.376;HRun=1;HaplotypeScore=0.9578;MQ=59.87;MQ0=0;MQRankSum=-0.561;QD=15.17;ReadPosRankSum=0.728;SNPEFF_AMINO_ACID_CHANGE=P104;SNPEFF_CODON_CHANGE=ccT/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_52802354_52802620;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEK4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000233027 GT:AD:DP:GQ:PL 0/1:68,79:147:99:2260,0,2243
3 52814256 rs2302417 T A 117.60 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.769;DB;DP=11;Dels=0.0;FS=0.0;HRun=7;HaplotypeScore=0.0;MQ=57.87;MQ0=0;MQRankSum=0.678;QD=10.69;ReadPosRankSum=-0.678;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITIH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273283 GT:AD:DP:GQ:PL 0/1:4,7:11:99:148,0,135
3 52815905 rs2710323 T C 543.81 PASS AB=0.419;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.172;DB;DP=32;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9578;MQ=58.69;MQ0=0;MQRankSum=0.167;QD=16.99;ReadPosRankSum=0.795;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITIH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000480409 GT:AD:DP:GQ:PL 0/1:13,18:32:99:574,0,407
3 52818579 rs2239551 G A 67.51 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.537;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=11.25;ReadPosRankSum=0.406;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITIH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478667 GT:AD:DP:GQ:PL 0/1:3,3:6:97.50:98,0,107
3 52819327 rs2268023 T A 140.93 PASS AB=0.647;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.955;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=0.05;QD=8.29;ReadPosRankSum=-2.06;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITIH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478667 GT:AD:DP:GQ:PL 0/1:11,6:17:99:171,0,367
3 52820855 rs36051478 CGAAT C 178.49 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=1.92;DB;DP=8;FS=0.0;HRun=0;HaplotypeScore=41.6479;IndelType=D;MQ=60.0;MQ0=0;MQRankSum=0.956;QD=22.31;ReadPosRankSum=0.322;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITIH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478667 GT:AD:DP:GQ:PL 0/1:3,5:8:99:218,0,193
3 52820981 rs678 A T 188.88 PASS AB=0.55;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.939;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.06;MQ0=0;MQRankSum=0.694;QD=9.44;ReadPosRankSum=0.531;SNPEFF_AMINO_ACID_CHANGE=E138V;SNPEFF_CODON_CHANGE=gAg/gTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_52820961_52821130;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITIH1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000428133 GT:AD:DP:GQ:PL 0/1:11,9:20:99:219,0,340
3 52821011 rs1042779 A G 365.65 PASS AB=0.423;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.661;DB;DP=26;Dels=0.0;FS=3.682;HRun=1;HaplotypeScore=0.0;MQ=59.28;MQ0=0;MQRankSum=-0.259;QD=14.06;ReadPosRankSum=-0.623;SNPEFF_AMINO_ACID_CHANGE=Q148R;SNPEFF_CODON_CHANGE=cAg/cGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_52820961_52821130;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITIH1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000428133 GT:AD:DP:GQ:PL 0/1:11,15:26:99:396,0,319
3 52821177 rs2286798 A C 1019.87 PASS AB=0.606;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.707;DB;DP=94;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=59.56;MQ0=0;MQRankSum=-0.993;QD=10.85;ReadPosRankSum=-0.75;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITIH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478667 GT:AD:DP:GQ:PL 0/1:57,37:94:99:1050,0,1726
3 52821992 rs68094128 CT C 1740.67 PASS AB=0.682;AC=1;AF=0.50;AN=2;BaseQRankSum=5.11;DB;DP=107;FS=1.567;HRun=1;HaplotypeScore=273.7053;IndelType=D;MQ=60.4;MQ0=0;MQRankSum=0.231;QD=16.27;ReadPosRankSum=0.402;SNPEFF_EFFECT=FRAME_SHIFT;SNPEFF_EXON_ID=exon_3_52821841_52822082;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITIH1;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000405128 GT:AD:DP:GQ:PL 0/1:57,50:107:99:1780,0,2112
3 52824610 rs6778329 G A 56.47 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.39;MQ0=0;MQRankSum=-1.652;QD=6.27;ReadPosRankSum=-0.729;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITIH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000482836 GT:AD:DP:GQ:PL 0/1:5,4:9:86.47:86,0,177
3 52825462 rs1076425 A G 119.09 PASS AB=0.688;AC=1;AF=0.50;AN=2;BaseQRankSum=0.34;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.7887;MQ=58.55;MQ0=0;MQRankSum=1.699;QD=7.44;ReadPosRankSum=-0.113;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITIH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000482836 GT:AD:DP:GQ:PL 0/1:11,5:16:99:149,0,346
3 52825528 rs1075653 T C 308.92 PASS AB=0.644;AC=1;AF=0.50;AN=2;BaseQRankSum=1.181;DB;DP=45;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9469;MQ=60.0;MQ0=0;MQRankSum=-0.367;QD=6.86;ReadPosRankSum=-0.525;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITIH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000482836 GT:AD:DP:GQ:PL 0/1:29,16:45:99:339,0,900
3 52825585 rs9324 T C 636.60 PASS AB=0.574;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.91;DB;DP=68;Dels=0.0;FS=2.018;HRun=1;HaplotypeScore=0.0;MQ=59.32;MQ0=0;MQRankSum=0.546;QD=9.36;ReadPosRankSum=-0.124;SNPEFF_AMINO_ACID_CHANGE=S215;SNPEFF_CODON_CHANGE=tcT/tcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_52825533_52825644;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITIH1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000405128 GT:AD:DP:GQ:PL 0/1:39,29:68:99:667,0,1093
3 52828628 rs9881468 C T 112.41 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.38;QD=18.73;ReadPosRankSum=-0.72;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITIH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273283 GT:AD:DP:GQ:PL 0/1:2,4:6:65.46:142,0,65
3 52829607 rs56009954 T C 74.04 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=0.466;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9997;MQ=60.0;MQ0=0;MQRankSum=-0.466;QD=6.73;ReadPosRankSum=0.717;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITIH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273283 GT:AD:DP:GQ:PL 0/1:6,5:11:99:104,0,188
3 52831009 rs2240920 C T 100.69 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.72;QD=16.78;ReadPosRankSum=-0.72;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITIH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273283 GT:AD:DP:GQ:PL 0/1:2,4:6:66.82:131,0,67
3 52831701 rs2240919 C G 199.12 PASS AB=0.3;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.731;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.66;MQ0=0;MQRankSum=1.58;QD=19.91;ReadPosRankSum=0.296;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ITIH3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467268 GT:AD:DP:GQ:PL 0/1:3,7:10:84.01:229,0,84
3 52833219 rs2535629 G A 375.13 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.76;DB;DP=25;Dels=0.0;FS=17.194;HRun=0;HaplotypeScore=0.0;MQ=58.13;MQ0=0;MQRankSum=-1.085;QD=15.01;ReadPosRankSum=-0.403;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ITIH3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467268 GT:AD:DP:GQ:PL 0/1:10,15:25:99:405,0,349
3 52833805 rs3617 C A 555.30 PASS AB=0.478;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.957;DB;DP=46;Dels=0.0;FS=1.21;HRun=2;HaplotypeScore=2.2566;MQ=60.0;MQ0=0;MQRankSum=2.298;QD=12.07;ReadPosRankSum=-1.484;SNPEFF_AMINO_ACID_CHANGE=Q303K;SNPEFF_CODON_CHANGE=Caa/Aaa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_52833769_52833937;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ITIH3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000536431 GT:AD:DP:GQ:PL 0/1:22,24:46:99:585,0,652
3 52837793 rs4481150 T C 102.02 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=2.637;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.05;MQ0=0;MQRankSum=0.6;QD=8.5;ReadPosRankSum=0.929;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ITIH3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463893 GT:AD:DP:GQ:PL 0/1:8,4:12:99:132,0,264
3 52837855 rs2710331 T C 152.38 PASS AB=0.696;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.434;DB;DP=23;Dels=0.0;FS=1.824;HRun=1;HaplotypeScore=0.0;MQ=58.99;MQ0=0;MQRankSum=-0.367;QD=6.63;ReadPosRankSum=-0.568;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ITIH3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463893 GT:AD:DP:GQ:PL 0/1:16,7:23:99:182,0,512
3 52847601 rs2071044 C T 232.24 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.555;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.45;MQ0=0;MQRankSum=-0.652;QD=15.48;ReadPosRankSum=0.15;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ITIH3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273291 GT:AD:DP:GQ:PL 0/1:7,8:15:99:262,0,237
3 52851137 rs2240917 T C 223.44 PASS AB=0.542;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.129;DB;DP=24;Dels=0.0;FS=7.499;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=0.058;QD=9.31;ReadPosRankSum=-1.333;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITIH4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000434759 GT:AD:DP:GQ:PL 0/1:13,11:24:99:253,0,444
3 52852060 rs2245538 T C 340.86 PASS AB=0.536;AC=1;AF=0.50;AN=2;BaseQRankSum=1.195;DB;DP=29;Dels=0.0;FS=6.219;HRun=2;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=0.366;QD=11.75;ReadPosRankSum=0.512;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITIH4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000434759 GT:AD:DP:GQ:PL 0/1:15,13:29:99:371,0,429
3 52853340 rs7620907 G C 525.51 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=58.55;MQ0=0;QD=32.84;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITIH4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000434759 GT:AD:DP:GQ:PL 1/1:0,16:16:45.13:559,45,0
3 52853401 rs3821831 C T 430.77 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.611;DB;DP=27;Dels=0.0;FS=2.182;HRun=0;HaplotypeScore=0.9995;MQ=60.0;MQ0=0;MQRankSum=-0.024;QD=15.95;ReadPosRankSum=-1.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITIH4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000434759 GT:AD:DP:GQ:PL 0/1:12,15:27:99:461,0,413
3 52853747 rs2276815 C G 1560.90 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-6.681;DB;DP=153;Dels=0.0;FS=0.629;HRun=0;HaplotypeScore=0.0;MQ=59.42;MQ0=0;MQRankSum=0.46;QD=10.2;ReadPosRankSum=0.396;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITIH4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467462 GT:AD:DP:GQ:PL 0/1:85,68:153:99:1591,0,2658
3 52854186 rs2239548 A C 337.18 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.664;DB;DP=24;Dels=0.0;FS=6.111;HRun=0;HaplotypeScore=0.9832;MQ=60.0;MQ0=0;MQRankSum=0.779;QD=14.05;ReadPosRankSum=0.318;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITIH4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467462 GT:AD:DP:GQ:PL 0/1:12,12:24:99:367,0,389
3 52855229 rs2239547 T C 121.70 PASS AB=0.737;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.493;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=6.41;ReadPosRankSum=2.07;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITIH4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000483372 GT:AD:DP:GQ:PL 0/1:14,5:19:99:152,0,481
3 52860816 rs2276816 C T 272.75 PASS AB=0.474;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.821;DB;DP=19;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.288;QD=14.36;ReadPosRankSum=0.578;SNPEFF_AMINO_ACID_CHANGE=K158;SNPEFF_CODON_CHANGE=aaG/aaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_52860807_52860872;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITIH4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000538421 GT:AD:DP:GQ:PL 0/1:9,10:19:99:303,0,276
3 52860936 rs2276817 C T 403.45 PASS AB=0.648;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.775;DB;DP=54;Dels=0.0;FS=1.077;HRun=0;HaplotypeScore=2.5612;MQ=59.57;MQ0=0;MQRankSum=-0.489;QD=7.47;ReadPosRankSum=-1.54;SNPEFF_AMINO_ACID_CHANGE=V130;SNPEFF_CODON_CHANGE=gtG/gtA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_52860807_52860969;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITIH4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000266041 GT:AD:DP:GQ:PL 0/1:35,19:54:99:433,0,963
3 52861211 rs13072536 A T 624.17 PASS AB=0.54;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.019;DB;DP=50;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9159;MQ=59.16;MQ0=0;MQRankSum=1.343;QD=12.48;ReadPosRankSum=0.701;SNPEFF_AMINO_ACID_CHANGE=I85N;SNPEFF_CODON_CHANGE=aTc/aAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_52861109_52861213;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITIH4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000266041 GT:AD:DP:GQ:PL 0/1:27,23:50:99:654,0,750
3 52864584 rs2071042 A G 1150.93 PASS AB=0.488;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.361;DB;DP=86;Dels=0.0;FS=4.075;HRun=1;HaplotypeScore=0.0;MQ=59.19;MQ0=0;MQRankSum=0.186;QD=13.38;ReadPosRankSum=-0.782;SNPEFF_AMINO_ACID_CHANGE=T25;SNPEFF_CODON_CHANGE=acT/acC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_52864569_52864755;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITIH4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000266041 GT:AD:DP:GQ:PL 0/1:42,44:86:99:1181,0,1301
3 52864693 rs2071041 T G 436.41 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.581;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.583;MQ=58.31;MQ0=0;MQRankSum=-0.804;QD=17.46;ReadPosRankSum=-0.083;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MUSTN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000446157 GT:AD:DP:GQ:PL 0/1:10,15:25:99:466,0,338
3 52867288 rs4687661 A T 463.69 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.67;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM110;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355083 GT:AD:DP:GQ:PL 1/1:0,13:13:39.12:497,39,0
3 52867595 rs60332615 C A 437.44 PASS AB=0.393;AC=1;AF=0.50;AN=2;BaseQRankSum=0.564;DB;DP=28;Dels=0.0;FS=9.167;HRun=1;HaplotypeScore=0.9665;MQ=60.0;MQ0=0;MQRankSum=-1.411;QD=15.62;ReadPosRankSum=-0.988;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM110;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355083 GT:AD:DP:GQ:PL 0/1:11,17:28:99:467,0,376
3 52867715 rs6787916 G C 975.35 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.56;SNPEFF_AMINO_ACID_CHANGE=D20E;SNPEFF_CODON_CHANGE=gaC/gaG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_52867633_52867765;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=MUSTN1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000446157 GT:AD:DP:GQ:PL 1/1:0,32:33:75.24:1008,75,0
3 52867811 rs6776876 A T 777.72 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.81;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM110;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355083 GT:AD:DP:GQ:PL 1/1:0,23:23:60.20:811,60,0
3 52874288 rs6445538 T C 69.73 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.406;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.537;QD=11.62;ReadPosRankSum=0.406;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM110;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464769 GT:AD:DP:GQ:PL 0/1:3,3:6:99:100,0,107
3 52874446 rs6769789 C T 340.48 PASS AB=0.476;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.317;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.77;MQ0=0;MQRankSum=0.176;QD=16.21;ReadPosRankSum=0.387;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM110-MUSTN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000504329 GT:AD:DP:GQ:PL 0/1:10,11:21:99:370,0,322
3 52874753 rs56019197 T C 110.10 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=1.034;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=53.52;MQ0=0;MQRankSum=0.597;QD=9.18;ReadPosRankSum=0.678;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM110-MUSTN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000504329 GT:AD:DP:GQ:PL 0/1:8,4:12:99:140,0,130
3 52874779 rs7638431 G A 287.76 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=55.21;MQ0=0;QD=28.78;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM110-MUSTN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000504329 GT:AD:DP:GQ:PL 1/1:0,10:10:24.08:321,24,0
3 52876639 rs12638195 G A 49.99 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM110-MUSTN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000504329 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
3 52876716 rs6776990 C T 461.52 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.5;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM110-MUSTN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000504329 GT:AD:DP:GQ:PL 1/1:0,13:13:39.10:495,39,0
3 52877647 rs113275920 C CA 2299 PASS AC=2;AF=1.00;AN=2;DB;DP=57;FS=0.0;HRun=1;HaplotypeScore=436.137;IndelType=I;MQ=59.75;MQ0=0;QD=39.64;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM110-MUSTN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000504329 GT:AD:DP:GQ:PL 1/1:0,58:57:99:2341,171,0
3 52877720 rs4687668 T C 3584.06 PASS AC=2;AF=1.00;AN=2;DB;DP=102;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=60.21;MQ0=0;QD=35.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM110-MUSTN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000504329 GT:AD:DP:GQ:PL 1/1:0,102:102:99:3584,268,0
3 52878721 rs7650966 G C 127.01 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.75;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM110-MUSTN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000504329 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:160,12,0
3 52878746 rs10663469 C CAG 479.55 PASS AC=2;AF=1.00;AN=2;DB;DP=10;FS=0.0;HRun=0;HaplotypeScore=72.7859;IndelType=I;MQ=58.77;MQ0=0;QD=47.95;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM110-MUSTN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000504329 GT:AD:DP:GQ:PL 1/1:1,9:10:27.09:522,27,0
3 52878825 rs7629528 C A 772.07 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.58;MQ0=0;QD=30.88;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM110-MUSTN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000504329 GT:AD:DP:GQ:PL 1/1:0,25:25:60.19:805,60,0
3 52886406 rs2246889 T C 164.70 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.94;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM110;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467979 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:197,15,0
3 52886411 rs2246888 A C 157.35 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.47;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM110;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467979 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:190,15,0
3 52886605 rs2276825 T C 1370.34 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=2.276;DB;DP=90;Dels=0.0;FS=0.807;HRun=0;HaplotypeScore=1.9996;MQ=58.76;MQ0=0;MQRankSum=0.877;QD=15.23;ReadPosRankSum=-0.86;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM110;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467979 GT:AD:DP:GQ:PL 0/1:42,48:90:99:1400,0,1218
3 52960013 rs11360013 GC G 1555.60 PASS AC=2;AF=1.00;AN=2;DB;DP=41;FS=0.0;HRun=2;HaplotypeScore=115.2521;IndelType=D;MQ=60.26;MQ0=0;QD=37.94;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SFMBT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296295 GT:AD:DP:GQ:PL 1/1:0,41:41:99:1598,123,0
3 52968726 rs2257216 T C 62 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.214;QD=6.2;ReadPosRankSum=0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SFMBT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296295 GT:AD:DP:GQ:PL 0/1:7,3:10:92:92,0,253
3 52968801 rs2710315 T C 664.83 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.99;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SFMBT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296295 GT:AD:DP:GQ:PL 1/1:0,19:19:54.16:698,54,0
3 53003021 rs2245424 G C 2543.17 PASS AB=0.44;AC=1;AF=0.50;AN=2;BaseQRankSum=1.001;DB;DP=150;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.9965;MQ=59.54;MQ0=0;MQRankSum=0.549;QD=16.95;ReadPosRankSum=-1.148;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SFMBT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474837 GT:AD:DP:GQ:PL 0/1:66,84:150:99:2573,0,1980
3 53125922 rs11242 T C 268.43 PASS AB=0.659;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.906;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.44;MQ0=0;MQRankSum=0.35;QD=6.55;ReadPosRankSum=-1.172;SNPEFF_AMINO_ACID_CHANGE=T502;SNPEFF_CODON_CHANGE=acA/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_53125681_53126086;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RFT1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000394738 GT:AD:DP:GQ:PL 0/1:27,14:41:99:298,0,829
3 53126143 rs2581786 G A 193.08 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=0.289;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.85;MQ0=0;MQRankSum=-1.447;QD=12.87;ReadPosRankSum=0.868;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RFT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296292 GT:AD:DP:GQ:PL 0/1:8,7:15:99:223,0,245
3 53133526 rs2581829 A G 300.86 PASS AB=0.565;AC=1;AF=0.50;AN=2;BaseQRankSum=1.643;DB;DP=23;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.279;QD=13.08;ReadPosRankSum=-0.961;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RFT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467048 GT:AD:DP:GQ:PL 0/1:13,10:23:99:331,0,426
3 53139506 rs2564942 C T 229.15 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.31;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.87;MQ0=0;MQRankSum=0.817;QD=10.42;ReadPosRankSum=-1.599;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RFT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296292 GT:AD:DP:GQ:PL 0/1:9,12:22:99:259,0,307
3 53139507 rs2581774 A G 236.55 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.162;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.87;MQ0=0;MQRankSum=0.178;QD=10.75;ReadPosRankSum=-1.599;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RFT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296292 GT:AD:DP:GQ:PL 0/1:10,12:22:99:267,0,317
3 53212574 rs2306571 C G 456.22 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.09;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRKCD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477794 GT:AD:DP:GQ:PL 1/1:0,13:13:36.12:489,36,0
3 53213538 rs2035451 C G 560.31 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.13;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRKCD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477794 GT:AD:DP:GQ:PL 1/1:0,18:18:45.14:593,45,0
3 53215875 rs11130350 A C 1331.99 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.3;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRKCD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477794 GT:AD:DP:GQ:PL 1/1:0,40:40:99:1365,99,0
3 53216051 rs6445568 T C 151.36 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.23;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRKCD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477794 GT:AD:DP:GQ:PL 1/1:0,6:6:15.04:184,15,0
3 53220444 rs6793352 T C 1140 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.62;MQ0=0;QD=32.57;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRKCD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464818 GT:AD:DP:GQ:PL 1/1:0,35:35:96.30:1173,96,0
3 53220473 rs34435761 T TC 817.87 PASS AC=2;AF=1.00;AN=2;DB;DP=41;FS=0.0;HRun=6;HaplotypeScore=287.5382;IndelType=I;MQ=59.4;MQ0=0;QD=19.95;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRKCD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464818 GT:AD:DP:GQ:PL 1/1:26,15:41:99:860,105,0
3 53220479 rs3830264 C CG 946.69 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.374;DB;DP=43;FS=8.247;HRun=0;HaplotypeScore=254.486;IndelType=I;MQ=60.22;MQ0=0;MQRankSum=2.026;QD=22.02;ReadPosRankSum=-0.309;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRKCD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464818 GT:AD:DP:GQ:PL 1/1:20,23:43:18.04:989,18,0
3 53222761 rs2306574 C T 1990.14 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.54;SNPEFF_AMINO_ACID_CHANGE=L481;SNPEFF_CODON_CHANGE=Ctg/Ttg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_53222736_53222874;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRKCD;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000330452 GT:AD:DP:GQ:PL 1/1:0,56:56:99:2023,150,0
3 53223291 rs7630600 T G 483.17 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.51;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRKCD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464818 GT:AD:DP:GQ:PL 1/1:0,14:14:39.13:516,39,0
3 53223927 rs1075865 C G 5418.94 PASS AC=2;AF=1.00;AN=2;DB;DP=179;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.6988;MQ=59.25;MQ0=0;QD=30.27;SNPEFF_AMINO_ACID_CHANGE=T594;SNPEFF_CODON_CHANGE=acC/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_53223889_53224017;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRKCD;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000330452 GT:AD:DP:GQ:PL 1/1:1,178:179:99:5419,448,0
3 53224002 rs900495 T C 6465.84 PASS AC=2;AF=1.00;AN=2;DB;DP=216;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.7608;MQ=59.7;MQ0=0;QD=29.93;SNPEFF_AMINO_ACID_CHANGE=P619;SNPEFF_CODON_CHANGE=ccT/ccC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_53223889_53224017;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRKCD;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000330452 GT:AD:DP:GQ:PL 1/1:1,215:216:99:6466,512,0
3 53259996 rs3816767 G A 52.10 PASS AB=0.692;AC=1;AF=0.50;AN=2;BaseQRankSum=1.466;DB;DP=14;Dels=0.0;FS=9.622;HRun=1;HaplotypeScore=0.0;MQ=56.62;MQ0=0;MQRankSum=-0.694;QD=3.72;ReadPosRankSum=0.54;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TKT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460243 GT:AD:DP:GQ:PL 0/1:9,4:14:82.10:82,0,266
3 53260710 rs2279321 G A 207.29 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=0.625;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.529;QD=12.19;ReadPosRankSum=-0.048;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TKT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460243 GT:AD:DP:GQ:PL 0/1:8,9:17:99:237,0,217
3 53260716 rs2279322 C T 234.38 PASS AB=0.45;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.755;QD=11.72;ReadPosRankSum=-0.222;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TKT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460243 GT:AD:DP:GQ:PL 0/1:9,11:20:99:264,0,232
3 53262867 rs13075304 G A 845.97 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.54;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TKT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466765 GT:AD:DP:GQ:PL 1/1:0,26:26:69.19:879,69,0
3 53263200 rs3736155 C G 754.68 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=0.237;DB;DP=52;Dels=0.0;FS=3.184;HRun=0;HaplotypeScore=0.0;MQ=59.56;MQ0=0;MQRankSum=-0.502;QD=14.51;ReadPosRankSum=1.41;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TKT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466765 GT:AD:DP:GQ:PL 0/1:24,28:52:99:785,0,781
3 53263279 rs3736156 A G 388.06 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=1.61;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.07;MQ0=0;MQRankSum=1.903;QD=15.52;ReadPosRankSum=1.142;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TKT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466765 GT:AD:DP:GQ:PL 0/1:10,14:25:99:418,0,238
3 53267133 rs6445573 G C 618.15 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.53;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TKT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000487660 GT:AD:DP:GQ:PL 1/1:0,19:19:48.15:651,48,0
3 53267155 rs2242301 G A 161.57 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=0.658;DB;DP=20;Dels=0.0;FS=4.931;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.57;QD=8.08;ReadPosRankSum=0.219;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TKT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000487660 GT:AD:DP:GQ:PL 0/1:14,6:20:99:192,0,380
3 53321631 rs9628 A C 1874.01 PASS AB=0.522;AC=1;AF=0.50;AN=2;BaseQRankSum=0.064;DB;DP=134;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9734;MQ=58.93;MQ0=0;MQRankSum=-0.205;QD=13.99;ReadPosRankSum=0.214;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=DCP1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294241 GT:AD:DP:GQ:PL 0/1:70,64:134:99:1904,0,2153
3 53322431 rs62256054 G C 143.19 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.64;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=DCP1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294241 GT:AD:DP:GQ:PL 1/1:0,5:5:15.04:176,15,0
3 53324819 rs66506434 ATGGCAC A 1564.69 PASS AC=2;AF=1.00;AN=2;DB;DP=39;FS=0.0;HRun=0;HaplotypeScore=414.1829;IndelType=D;MQ=32.17;MQ0=0;QD=40.12;SNPEFF_EFFECT=SPLICE_SITE_DONOR;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=DCP1A;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000294241 GT:AD:DP:GQ:PL 1/1:13,24:39:72.25:1607,72,0
3 53324915 rs3732834 A G 1215 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=43.89;MQ0=0;QD=31.97;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=misc_RNA;SNPEFF_GENE_NAME=Y_RNA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000384175 GT:AD:DP:GQ:PL 1/1:0,38:38:99:1248,105,0
3 53338368 rs35734433 T C 431.79 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.498;DB;DP=35;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.162;QD=12.34;ReadPosRankSum=-0.084;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=DCP1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000294241 GT:AD:DP:GQ:PL 0/1:21,14:35:99:462,0,673
3 53529140 rs312480 T C 610.88 PASS AB=0.425;AC=1;AF=0.50;AN=2;BaseQRankSum=1.672;DB;DP=40;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=1.344;QD=15.27;ReadPosRankSum=-1.553;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA1D;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000422281 GT:AD:DP:GQ:PL 0/1:17,23:40:99:641,0,494
3 53685039 rs2276836 T C 365.46 PASS AB=0.211;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.05;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.53;MQ0=0;MQRankSum=-0.95;QD=19.23;ReadPosRankSum=-0.35;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA1D;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288139 GT:AD:DP:GQ:PL 0/1:4,15:19:99:395,0,115
3 53700550 rs2250736 T C 1064.98 PASS AB=0.512;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.361;DB;DP=86;Dels=0.0;FS=3.171;HRun=0;HaplotypeScore=0.9979;MQ=58.65;MQ0=0;MQRankSum=1.167;QD=12.38;ReadPosRankSum=-1.266;SNPEFF_AMINO_ACID_CHANGE=D368;SNPEFF_CODON_CHANGE=gaT/gaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_53700366_53700562;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA1D;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000288139 GT:AD:DP:GQ:PL 0/1:44,42:86:99:1095,0,1338
3 53700704 rs3821856 A G 140.10 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.951;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=0.47;QD=11.68;ReadPosRankSum=0.676;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA1D;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288139 GT:AD:DP:GQ:PL 0/1:5,6:12:99:170,0,180
3 53752120 rs2633724 T C 115.36 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA1D;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288139 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:148,12,0
3 53760700 rs112443124 A AT 338.90 PASS AC=2;AF=1.00;AN=2;DB;DP=11;FS=0.0;HRun=8;HaplotypeScore=27.3824;IndelType=I;MQ=57.87;MQ0=0;QD=30.81;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA1D;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288139 GT:AD:DP:GQ:PL 1/1:0,11:11:33.10:381,33,0
3 53766026 rs2612033 T C 1106.20 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.54;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA1D;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288139 GT:AD:DP:GQ:PL 1/1:0,33:33:87.25:1139,87,0
3 53766212 rs2306866 A T 213.80 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.63;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA1D;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288139 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:247,18,0
3 53769479 rs1045958 C T 1717.30 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.031;DB;DP=59;Dels=0.0;FS=6.264;HRun=0;HaplotypeScore=0.9997;MQ=58.82;MQ0=0;MQRankSum=-1.417;QD=29.11;ReadPosRankSum=-0.724;SNPEFF_AMINO_ACID_CHANGE=S593;SNPEFF_CODON_CHANGE=agC/agT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_53769401_53769530;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA1D;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000481478 GT:AD:DP:GQ:PL 1/1:1,57:59:98.44:1750,98,0
3 53776857 rs2577329 C G 180.78 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.13;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA1D;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288139 GT:AD:DP:GQ:PL 1/1:0,6:6:18.05:214,18,0
3 53776872 rs2577328 T G 302.76 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.64;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA1D;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288139 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:336,27,0
3 53776995 rs2612026 T C 1837.03 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.33;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA1D;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288139 GT:AD:DP:GQ:PL 1/1:0,52:52:99:1870,141,0
3 53778620 rs28365115 C G 210.79 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.11;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA1D;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288139 GT:AD:DP:GQ:PL 1/1:0,7:7:21.05:244,21,0
3 53779580 rs2612024 G C 290.89 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.66;MQ0=0;QD=29.09;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA1D;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288139 GT:AD:DP:GQ:PL 1/1:0,10:10:24.08:324,24,0
3 53779825 rs3821860 A G 770.59 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.03;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA1D;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288139 GT:AD:DP:GQ:PL 1/1:0,22:22:60.19:804,60,0
3 53780082 rs2577326 A G 162.19 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.44;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA1D;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288139 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:195,15,0
3 53806803 rs2278517 G C 381.31 PASS AB=0.316;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.132;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9998;MQ=58.78;MQ0=0;MQRankSum=-0.132;QD=20.07;ReadPosRankSum=0.307;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA1D;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288139 GT:AD:DP:GQ:PL 0/1:6,13:19:99:411,0,154
3 53814197 rs1829423 G A 233.46 PASS AB=0.607;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.976;DB;DP=28;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.6281;MQ=58.17;MQ0=0;MQRankSum=-0.894;QD=8.34;ReadPosRankSum=-0.612;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA1D;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288139 GT:AD:DP:GQ:PL 0/1:17,11:28:99:263,0,566
3 53814308 rs3733070 C T 35.95 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.72;QD=5.99;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA1D;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288139 GT:AD:DP:GQ:PL 0/1:4,2:6:65.94:66,0,123
3 53834091 rs59191645 C A 132.97 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=0.684;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.221;QD=16.62;ReadPosRankSum=0.684;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA1D;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288139 GT:AD:DP:GQ:PL 0/1:3,5:8:95.51:163,0,96
3 53856653 rs2241808 C T 447.85 PASS AB=0.484;AC=1;AF=0.50;AN=2;BaseQRankSum=3.222;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.25;MQ0=0;MQRankSum=1.226;QD=14.45;ReadPosRankSum=0.062;SNPEFF_AMINO_ACID_CHANGE=A240;SNPEFF_CODON_CHANGE=gcG/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_53856518_53856669;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHDH;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000315251 GT:AD:DP:GQ:PL 0/1:15,16:31:99:478,0,390
3 53880789 rs2232332 A G 52.75 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL17RB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288167 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
3 53882661 rs2232333 A G 837.52 PASS AB=0.604;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.875;DB;DP=96;Dels=0.0;FS=0.919;HRun=0;HaplotypeScore=0.8321;MQ=60.34;MQ0=0;MQRankSum=0.543;QD=8.72;ReadPosRankSum=1.154;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL17RB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288167 GT:AD:DP:GQ:PL 0/1:58,38:96:99:868,0,1929
3 53882663 rs1025690 G A 1823.97 HaplotypeScoreFilter13 AB=0.411;AC=1;AF=0.50;AN=2;BaseQRankSum=3.993;DB;DP=95;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=81.7647;MQ=60.34;MQ0=0;MQRankSum=-0.094;QD=19.2;ReadPosRankSum=-0.339;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL17RB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288167 GT:AD:DP:GQ:PL 0/1:39,56:95:99:1854,0,795
3 53882673 rs11411532 G GT 3504.34 PASS AC=2;AF=1.00;AN=2;DB;DP=97;FS=0.0;HRun=6;HaplotypeScore=526.8995;IndelType=I;MQ=60.56;MQ0=0;QD=36.13;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL17RB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288167 GT:AD:DP:GQ:PL 1/1:7,90:97:99:3504,280,0
3 53883546 rs5849010 C CA 529.39 PASS AC=2;AF=1.00;AN=2;DB;DP=13;FS=0.0;HRun=6;HaplotypeScore=65.8084;IndelType=I;MQ=48.11;MQ0=0;QD=40.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL17RB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288167 GT:AD:DP:GQ:PL 1/1:0,13:13:39.13:571,39,0
3 53883558 rs71074937 T TA 374.01 PASS AC=2;AF=1.00;AN=2;DB;DP=16;FS=0.0;HRun=10;HaplotypeScore=93.1287;IndelType=I;MQ=48.92;MQ0=0;QD=23.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL17RB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288167 GT:AD:DP:GQ:PL 1/1:3,13:16:39.10:416,39,0
3 53883722 rs1025689 C G 938.41 PASS AB=0.607;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.132;DB;DP=117;Dels=0.0;FS=0.735;HRun=2;HaplotypeScore=1.9318;MQ=58.61;MQ0=0;MQRankSum=0.191;QD=8.02;ReadPosRankSum=-0.372;SNPEFF_AMINO_ACID_CHANGE=P42;SNPEFF_CODON_CHANGE=ccC/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_53883682_53883822;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL17RB;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000288167 GT:AD:DP:GQ:PL 0/1:71,46:117:99:968,0,1956
3 53883910 rs4687751 C T 423.21 PASS AB=0.483;AC=1;AF=0.50;AN=2;BaseQRankSum=3.837;DB;DP=29;Dels=0.0;FS=3.174;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.355;QD=14.59;ReadPosRankSum=1.493;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL17RB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288167 GT:AD:DP:GQ:PL 0/1:14,15:29:99:453,0,396
3 53886912 rs3733075 C T 664.45 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.383;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=-0.383;QD=18.98;ReadPosRankSum=0.65;SNPEFF_AMINO_ACID_CHANGE=Y123;SNPEFF_CODON_CHANGE=taC/taT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_53886898_53887024;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL17RB;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000288167 GT:AD:DP:GQ:PL 0/1:15,20:35:99:694,0,475
3 53890787 rs3821867 G A 206.65 PASS AB=0.45;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.041;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.102;QD=10.33;ReadPosRankSum=-1.184;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL17RB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288167 GT:AD:DP:GQ:PL 0/1:9,11:20:99:237,0,310
3 53891097 rs2276840 C G 574.83 PASS AB=0.592;AC=1;AF=0.50;AN=2;BaseQRankSum=2.919;DB;DP=49;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=-1.515;QD=11.73;ReadPosRankSum=0.092;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL17RB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288167 GT:AD:DP:GQ:PL 0/1:29,20:49:99:605,0,929
3 53892553 rs13315972 C T 44.44 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=14.81;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL17RB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288167 GT:AD:DP:GQ:PL 0/1:1,2:3:30.28:74,0,30
3 53892641 rs9840079 T G 167.12 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.466;DB;DP=11;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=1.031;QD=15.19;ReadPosRankSum=-1.031;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL17RB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288167 GT:AD:DP:GQ:PL 0/1:5,6:11:99:197,0,162
3 53898555 rs2884631 A G 32.05 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=53.95;MQ0=0;MQRankSum=-1.026;QD=8.01;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACTR8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000231909 GT:AD:DP:GQ:PL 0/1:2,2:4:62.04:62,0,69
3 53905308 rs1046677 T C 830.03 PASS AB=0.531;AC=1;AF=0.50;AN=2;BaseQRankSum=3.908;DB;DP=81;Dels=0.0;FS=4.373;HRun=2;HaplotypeScore=0.0;MQ=58.85;MQ0=0;MQRankSum=-1.862;QD=10.25;ReadPosRankSum=0.019;SNPEFF_AMINO_ACID_CHANGE=G211;SNPEFF_CODON_CHANGE=ggA/ggG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_53905259_53905523;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACTR8;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000231909 GT:AD:DP:GQ:PL 0/1:43,38:81:99:860,0,1264
3 53906513 rs4687757 G A 2785.32 PASS AB=0.513;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.998;DB;DP=191;DS;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.2064;MQ=59.52;MQ0=0;MQRankSum=2.38;QD=14.58;ReadPosRankSum=-0.467;SNPEFF_AMINO_ACID_CHANGE=I105;SNPEFF_CODON_CHANGE=atC/atT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_53906411_53906551;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACTR8;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000231909 GT:AD:DP:GQ:PL 0/1:98,93:191:99:2815,0,3151
3 53906663 rs2289203 T C 245.91 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=1.999;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.311;QD=13.66;ReadPosRankSum=1.288;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACTR8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000498740 GT:AD:DP:GQ:PL 0/1:10,8:18:99:276,0,249
3 53906891 rs45511795 C T 139.56 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.307;DB;DP=9;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=57.9;MQ0=0;MQRankSum=0.876;QD=15.51;ReadPosRankSum=-1.159;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACTR8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000498740 GT:AD:DP:GQ:PL 0/1:4,5:9:99:170,0,142
3 53906951 rs12632292 A G 315.47 PASS AB=0.567;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.892;DB;DP=30;Dels=0.0;FS=2.965;HRun=1;HaplotypeScore=0.0;MQ=59.38;MQ0=0;MQRankSum=-1.214;QD=10.52;ReadPosRankSum=-0.46;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACTR8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000498740 GT:AD:DP:GQ:PL 0/1:17,13:30:99:345,0,565
3 53910121 rs5849012 AG A 208.14 PASS AB=0.724;AC=1;AF=0.50;AN=2;BaseQRankSum=3.802;DB;DP=21;FS=2.57;HRun=1;HaplotypeScore=85.1757;IndelType=D;MQ=58.83;MQ0=0;MQRankSum=0.817;QD=9.91;ReadPosRankSum=-1.03;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACTR8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000498740 GT:AD:DP:GQ:PL 0/1:13,8:21:99:247,0,442
3 53912341 rs3733081 C A 468.31 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.747;DB;DP=42;Dels=0.0;FS=3.053;HRun=2;HaplotypeScore=0.9665;MQ=58.89;MQ0=0;MQRankSum=-0.46;QD=11.15;ReadPosRankSum=-0.854;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACTR8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000335754 GT:AD:DP:GQ:PL 0/1:24,18:42:99:498,0,793
3 53916130 rs2276845 A G 109.15 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=1.652;DB;DP=9;Dels=0.0;FS=2.808;HRun=0;HaplotypeScore=0.9973;MQ=60.0;MQ0=0;MQRankSum=-0.876;QD=12.13;ReadPosRankSum=-0.876;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RP11-884K10.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000488746 GT:AD:DP:GQ:PL 0/1:5,4:9:99:139,0,168
3 53921022 rs1020082 T C 300.36 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=1.088;DB;DP=22;Dels=0.0;FS=3.183;HRun=2;HaplotypeScore=0.9947;MQ=58.95;MQ0=0;MQRankSum=0.626;QD=13.65;ReadPosRankSum=-0.099;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RP11-884K10.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485414 GT:AD:DP:GQ:PL 0/1:10,12:22:99:330,0,342
3 53921028 rs10440151 T G 263.03 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.173;DB;DP=21;Dels=0.0;FS=3.056;HRun=1;HaplotypeScore=0.9947;MQ=58.89;MQ0=0;MQRankSum=-0.462;QD=12.53;ReadPosRankSum=-0.107;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RP11-884K10.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485414 GT:AD:DP:GQ:PL 0/1:9,12:21:99:293,0,308
3 53922257 rs2304576 A G 152.50 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.92;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.221;QD=19.06;ReadPosRankSum=-0.322;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RP11-884K10.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485414 GT:AD:DP:GQ:PL 0/1:3,5:8:99:182,0,103
3 53922620 rs3816144 A G 361.91 PASS AB=0.421;AC=1;AF=0.50;AN=2;BaseQRankSum=1.197;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.032;QD=19.05;ReadPosRankSum=0.619;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RP11-884K10.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000495461 GT:AD:DP:GQ:PL 0/1:8,11:19:99:392,0,264
3 54354431 rs41277447 G T 669.97 PASS AB=0.442;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.205;DB;DP=52;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.8675;MQ=59.56;MQ0=0;MQRankSum=-0.049;QD=12.88;ReadPosRankSum=0.909;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA2D3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288197 GT:AD:DP:GQ:PL 0/1:23,29:52:99:700,0,698
3 54354510 rs9879885 T C 1835.54 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9916;MQ=60.0;MQ0=0;QD=31.65;SNPEFF_AMINO_ACID_CHANGE=I82;SNPEFF_CODON_CHANGE=atT/atC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_54354469_54354585;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA2D3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000288197 GT:AD:DP:GQ:PL 1/1:0,58:58:99:1869,150,0
3 54419704 rs9835975 G A 127.40 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.85;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA2D3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288197 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:160,12,0
3 54419977 rs9836159 C T 2192.78 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.81;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA2D3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288197 GT:AD:DP:GQ:PL 1/1:0,63:63:99:2226,163,0
3 54420201 rs74833192 T G 37.19 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=7.44;ReadPosRankSum=1.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA2D3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288197 GT:AD:DP:GQ:PL 0/1:2,3:5:67.18:67,0,67
3 54420721 rs66653184 G GTTT 313.10 PASS AB=0.734;AC=1;AF=0.50;AN=2;BaseQRankSum=0.424;DB;DP=47;FS=2.622;HRun=18;HaplotypeScore=396.3477;IndelType=I;MQ=46.26;MQ0=0;MQRankSum=-2.486;QD=6.66;ReadPosRankSum=-1.637;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA2D3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288197 GT:AD:DP:GQ:PL 0/1:25,5:47:44.22:352,0,44
3 54537372 rs7372750 T C 96.09 PASS AB=0.692;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.231;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.2;MQ0=0;MQRankSum=0.694;QD=7.39;ReadPosRankSum=-1.774;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA2D3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288197 GT:AD:DP:GQ:PL 0/1:9,4:13:99:126,0,330
3 54596815 rs9814659 T C 4281.96 PASS AC=2;AF=1.00;AN=2;DB;DP=128;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.6651;MQ=59.46;MQ0=0;QD=33.45;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA2D3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288197 GT:AD:DP:GQ:PL 1/1:0,128:128:99:4282,343,0
3 54597167 rs7374733 T C 205.26 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.53;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA2D3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000492460 GT:AD:DP:GQ:PL 1/1:0,10:10:18.06:238,18,0
3 54604188 rs2251788 T C 2070.73 PASS AC=2;AF=1.00;AN=2;DB;DP=69;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.99;MQ0=0;QD=30.01;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA2D3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288197 GT:AD:DP:GQ:PL 1/1:0,69:69:99:2104,178,0
3 54615971 rs6782115 A G 576.05 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.4;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA2D3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288197 GT:AD:DP:GQ:PL 1/1:0,15:15:45.15:609,45,0
3 54676441 rs3832224 CA C 311.75 PASS AC=2;AF=1.00;AN=2;DB;DP=13;FS=0.0;HRun=6;HaplotypeScore=32.1144;IndelType=D;MQ=61.64;MQ0=0;QD=23.98;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA2D3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288197 GT:AD:DP:GQ:PL 1/1:2,11:13:33.08:354,33,0
3 54798258 rs3732748 G A 6409.94 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.171;DB;DP=186;Dels=0.0;FS=3.439;HRun=1;HaplotypeScore=3.193;MQ=59.6;MQ0=0;MQRankSum=0.971;QD=34.46;ReadPosRankSum=0.19;SNPEFF_AMINO_ACID_CHANGE=Q325;SNPEFF_CODON_CHANGE=caG/caA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_54798245_54798378;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA2D3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000438476 GT:AD:DP:GQ:PL 1/1:1,185:186:99:6410,443,0
3 54871014 rs2694105 C G 102.35 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.927;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.696;QD=7.87;ReadPosRankSum=-0.212;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA2D3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288197 GT:AD:DP:GQ:PL 0/1:8,5:13:99:132,0,295
3 54919185 rs11716356 A G 323.25 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.128;DB;DP=24;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.03;MQ0=0;MQRankSum=-0.498;QD=13.47;ReadPosRankSum=0.146;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA2D3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288197 GT:AD:DP:GQ:PL 0/1:10,14:24:99:353,0,335
3 54919272 rs1405330 A G 2978.51 PASS AC=2;AF=1.00;AN=2;DB;DP=97;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.5784;MQ=59.52;MQ0=0;QD=30.71;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA2D3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288197 GT:AD:DP:GQ:PL 1/1:0,97:97:99:3012,229,0
3 54919351 rs10510774 A G 1721.11 PASS AB=0.514;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.884;DB;DP=140;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=59.34;MQ0=0;MQRankSum=0.385;QD=12.29;ReadPosRankSum=0.316;SNPEFF_AMINO_ACID_CHANGE=E558;SNPEFF_CODON_CHANGE=gaA/gaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_54919308_54919353;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA2D3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000398624 GT:AD:DP:GQ:PL 0/1:72,68:140:99:1751,0,2217
3 54919480 rs2293662 G A 999.02 PASS AB=0.53;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.488;DB;DP=67;Dels=0.0;FS=3.413;HRun=1;HaplotypeScore=0.734;MQ=59.31;MQ0=0;MQRankSum=1.169;QD=14.91;ReadPosRankSum=1.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA2D3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288197 GT:AD:DP:GQ:PL 0/1:35,31:67:99:1029,0,1125
3 54921903 rs3773594 T C 321.88 PASS AB=0.522;AC=1;AF=0.50;AN=2;BaseQRankSum=0.954;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9933;MQ=60.0;MQ0=0;MQRankSum=0.892;QD=13.99;ReadPosRankSum=-0.215;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA2D3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468658 GT:AD:DP:GQ:PL 0/1:12,11:23:99:352,0,423
3 54922235 rs2360659 G A 223.56 PASS AB=0.222;AC=1;AF=0.50;AN=2;BaseQRankSum=0.067;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.666;QD=24.84;ReadPosRankSum=0.067;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA2D3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468658 GT:AD:DP:GQ:PL 0/1:2,7:9:51.12:254,0,51
3 54922313 rs2360660 C T 52.75 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.37;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA2D3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468658 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
3 54928496 rs1526595 T C 310.81 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.39;MQ0=0;QD=34.53;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA2D3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288197 GT:AD:DP:GQ:PL 1/1:0,9:9:27.08:344,27,0
3 54928762 rs1526594 G C 205.98 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.839;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.914;QD=12.12;ReadPosRankSum=-2.454;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA2D3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000438476 GT:AD:DP:GQ:PL 0/1:8,9:17:99:236,0,269
3 54930640 rs79621910 C G 357.94 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.201;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9134;MQ=59.17;MQ0=0;MQRankSum=-1.23;QD=12.78;ReadPosRankSum=-0.441;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA2D3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000438476 GT:AD:DP:GQ:PL 0/1:12,16:28:99:388,0,418
3 54930699 rs6445708 A T 1063.24 PASS AB=0.547;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.666;DB;DP=75;Dels=0.0;FS=3.551;HRun=0;HaplotypeScore=0.8321;MQ=59.38;MQ0=0;MQRankSum=0.271;QD=14.18;ReadPosRankSum=1.08;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA2D3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000438476 GT:AD:DP:GQ:PL 0/1:41,34:75:99:1093,0,1250
3 54930773 rs17253119 A G 1534.65 PASS AB=0.544;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.715;DB;DP=125;Dels=0.0;FS=5.601;HRun=0;HaplotypeScore=1.5779;MQ=59.45;MQ0=0;MQRankSum=1.384;QD=12.18;ReadPosRankSum=-1.675;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA2D3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000438476 GT:AD:DP:GQ:PL 0/1:68,57:125:99:1565,0,1960
3 54930794 rs17054524 C T 2015.92 PASS AB=0.445;AC=1;AF=0.50;AN=2;BaseQRankSum=1.284;DB;DP=128;Dels=0.0;FS=0.678;HRun=0;HaplotypeScore=3.33;MQ=59.46;MQ0=0;MQRankSum=-0.449;QD=15.75;ReadPosRankSum=1.76;SNPEFF_AMINO_ACID_CHANGE=G661;SNPEFF_CODON_CHANGE=ggC/ggT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_54930776_54930897;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA2D3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000398624 GT:AD:DP:GQ:PL 0/1:57,71:128:99:2046,0,1594
3 54933763 rs41277455 G A 781.50 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=4.721;DB;DP=45;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.49;MQ0=0;MQRankSum=0.466;QD=17.37;ReadPosRankSum=0.284;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA2D3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288197 GT:AD:DP:GQ:PL 0/1:21,24:45:99:811,0,556
3 54961949 rs78978076 C T 2882.50 PASS AC=2;AF=1.00;AN=2;DB;DP=86;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9999;MQ=59.24;MQ0=0;QD=33.52;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA2D3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288197 GT:AD:DP:GQ:PL 1/1:0,86:86:99:2916,217,0
3 55038898 rs4955827 A G 1337.57 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.65;DB;DP=44;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9332;MQ=58.41;MQ0=0;MQRankSum=-0.083;QD=30.4;ReadPosRankSum=0.165;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA2D3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288197 GT:AD:DP:GQ:PL 1/1:1,41:44:99:1371,105,0
3 55039088 rs9871268 G C 35.56 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.78;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA2D3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288197 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:67,6,0
3 55041650 rs112147349 G A 38.78 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=12.93;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA2D3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288197 GT:AD:DP:GQ:PL 0/1:1,2:3:32.20:69,0,32
3 55043613 rs3773570 G C 207.94 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.747;DB;DP=8;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=57.05;MQ0=0;MQRankSum=0.747;QD=25.99;ReadPosRankSum=0.747;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA2D3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288197 GT:AD:DP:GQ:PL 1/1:1,7:8:18.06:241,18,0
3 55051950 rs2292703 A G 85.17 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.39;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA2D3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288197 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:117,9,0
3 55052369 rs78296127 C T 1972.67 PASS AB=0.496;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.863;DB;DP=141;Dels=0.0;FS=4.357;HRun=0;HaplotypeScore=4.2514;MQ=59.67;MQ0=0;MQRankSum=1.097;QD=13.99;ReadPosRankSum=-0.615;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA2D3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288197 GT:AD:DP:GQ:PL 0/1:70,71:141:99:2003,0,2146
3 55107264 rs896108 G A 36.92 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.358;QD=7.38;ReadPosRankSum=-1.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA2D3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288197 GT:AD:DP:GQ:PL 0/1:3,2:5:66.91:67,0,95
3 55107317 rs75891966 C T 207.36 PASS AB=0.438;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.106;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=47.1;MQ0=0;MQRankSum=-3.387;QD=12.96;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA2D3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288197 GT:AD:DP:GQ:PL 0/1:7,9:16:99:237,0,247
3 55107361 rs11271063 AATTTGCTTTACAAAATATGGT A 2900.26 PASS AB=0.69;AC=1;AF=0.50;AN=2;BaseQRankSum=5.96;DB;DP=49;FS=3.055;HRun=0;HaplotypeScore=881.3189;IndelType=D;MQ=48.87;MQ0=0;MQRankSum=-5.819;QD=59.19;ReadPosRankSum=1.558;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA2D3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288197 GT:AD:DP:GQ:PL 0/1:27,22:49:99:2939,0,7626
3 55108055 rs358076 G A 725.47 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.95;MQ0=0;QD=32.98;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA2D3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288197 GT:AD:DP:GQ:PL 1/1:0,22:22:57.18:758,57,0
3 55108149 rs17054785 A G 921.83 PASS AB=0.339;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.422;DB;DP=59;Dels=0.0;FS=1.253;HRun=0;HaplotypeScore=0.9999;MQ=58.82;MQ0=0;MQRankSum=0.156;QD=15.62;ReadPosRankSum=1.275;SNPEFF_AMINO_ACID_CHANGE=A1064;SNPEFF_CODON_CHANGE=gcA/gcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_55108141_55108580;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CACNA2D3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000288197 GT:AD:DP:GQ:PL 0/1:20,39:59:99:952,0,510
3 55768688 rs815451 G C 1612.34 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=59.52;MQ0=0;QD=33.59;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ERC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288221 GT:AD:DP:GQ:PL 1/1:1,47:48:99:1645,120,0
3 55989276 rs67076752 TTGTGTGTGTGTG T 952.06 PASS AC=2;AF=1.00;AN=2;DB;DP=34;FS=0.0;HRun=0;HaplotypeScore=342.7365;IndelType=D;MQ=51.77;MQ0=0;QD=28.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ERC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288221 GT:AD:DP:GQ:PL 1/1:22,12:34:36.09:994,36,0
3 56052839 rs3816575 G T 2110.86 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9734;MQ=60.0;MQ0=0;QD=34.05;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ERC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288221 GT:AD:DP:GQ:PL 1/1:0,61:62:99:2144,166,0
3 56207448 rs6804221 T C 1029.24 PASS AB=0.486;AC=1;AF=0.50;AN=2;BaseQRankSum=2.838;DB;DP=70;Dels=0.0;FS=1.228;HRun=0;HaplotypeScore=2.9294;MQ=60.0;MQ0=0;MQRankSum=0.1;QD=14.7;ReadPosRankSum=-0.922;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ERC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288221 GT:AD:DP:GQ:PL 0/1:34,36:70:99:1059,0,1103
3 56207634 rs6764295 G A 455.91 PASS AB=0.292;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.479;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.6493;MQ=59.03;MQ0=0;MQRankSum=1.732;QD=19.0;ReadPosRankSum=0.995;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ERC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288221 GT:AD:DP:GQ:PL 0/1:7,17:24:99:486,0,182
3 56593105 rs2054987 G C 130.51 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC66;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326595 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:163,12,0
3 56593170 rs2054988 G A 90.49 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.16;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC66;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326595 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:123,9,0
3 56593543 rs12486047 C A 2132.25 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.63;MQ0=0;QD=34.39;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC66;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326595 GT:AD:DP:GQ:PL 1/1:0,62:62:99:2165,169,0
3 56593680 rs11130525 T C 2243.14 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.02;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC66;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326595 GT:AD:DP:GQ:PL 1/1:0,59:59:99:2276,166,0
3 56597954 rs6769055 C T 1837.53 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.56;MQ0=0;QD=34.67;SNPEFF_AMINO_ACID_CHANGE=T115;SNPEFF_CODON_CHANGE=acC/acT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_56597712_56598153;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC66;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000394672 GT:AD:DP:GQ:PL 1/1:0,53:53:99:1871,141,0
3 56598291 rs11285260 TA T 209.98 PASS AC=2;AF=1.00;AN=2;DB;DP=6;FS=0.0;HRun=1;HaplotypeScore=15.1992;IndelType=D;MQ=56.82;MQ0=0;QD=35.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC66;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000439445 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:252,18,0
3 56600531 rs10865997 G A 567.33 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.23;MQ0=0;QD=33.37;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC66;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000422788 GT:AD:DP:GQ:PL 1/1:0,17:17:48.13:600,48,0
3 56605404 rs34099535 T TA 859.21 PASS AC=2;AF=1.00;AN=2;DB;DP=38;FS=0.0;HRun=11;HaplotypeScore=144.4032;IndelType=I;MQ=60.11;MQ0=0;QD=22.61;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC66;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000434467 GT:AD:DP:GQ:PL 1/1:7,30:38:90.14:901,90,0
3 56627048 rs1388256 A G 2595.82 PASS AC=2;AF=1.00;AN=2;DB;DP=71;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.56;SNPEFF_AMINO_ACID_CHANGE=Q295;SNPEFF_CODON_CHANGE=caA/caG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_56626998_56627129;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC66;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000326595 GT:AD:DP:GQ:PL 1/1:0,71:71:99:2629,202,0
3 56627358 rs9985317 G T 127.80 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.3;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC66;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000494672 GT:AD:DP:GQ:PL 1/1:0,6:6:12.04:160,12,0
3 56627598 rs1491170 A G 1627.34 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.21;SNPEFF_AMINO_ACID_CHANGE=Q339R;SNPEFF_CODON_CHANGE=cAg/cGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_56627519_56627769;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC66;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000422222 GT:AD:DP:GQ:PL 1/1:0,49:49:99:1660,126,0
3 56647934 rs7612599 A G 656.77 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.63;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC66;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326595 GT:AD:DP:GQ:PL 1/1:0,17:17:51.17:690,51,0
3 56650051 rs77152637 A ACTT 3007.31 PASS AC=2;AF=1.00;AN=2;DB;DP=49;FS=0.0;HRun=0;HaplotypeScore=131.0384;IndelType=I;MQ=58.46;MQ0=0;QD=61.37;SNPEFF_AMINO_ACID_CHANGE=T561TS;SNPEFF_CODON_CHANGE=act/aCTTct;SNPEFF_EFFECT=CODON_INSERTION;SNPEFF_EXON_ID=exon_3_56649950_56650081;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC66;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000422222 GT:AD:DP:GQ:PL 1/1:2,45:49:99:3049,141,0
3 56650178 rs9833926 A G 424.93 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.35;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C3orf63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000431842 GT:AD:DP:GQ:PL 1/1:0,14:14:36.12:458,36,0
3 56653609 rs72573620 CGT C 2026.95 PASS AC=2;AF=1.00;AN=2;DB;DP=43;FS=0.0;HRun=0;HaplotypeScore=144.7114;IndelType=D;MQ=60.72;MQ0=0;QD=47.14;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C3orf63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355628 GT:AD:DP:GQ:PL 1/1:0,43:43:99:2069,129,0
3 56654002 rs3830333 GTTTGT G 2896.04 PASS AC=2;AF=1.00;AN=2;DB;DP=50;FS=0.0;HRun=0;HaplotypeScore=304.6492;IndelType=D;MQ=48.81;MQ0=0;QD=57.92;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C3orf63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355628 GT:AD:DP:GQ:PL 1/1:4,45:50:99:2938,138,0
3 56654141 rs2291501 C T 141.72 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.21;MQ0=0;QD=28.34;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C3orf63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355628 GT:AD:DP:GQ:PL 1/1:0,5:5:15.03:174,15,0
3 56658481 rs2291499 G C 2138.19 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.24;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C3orf63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461863 GT:AD:DP:GQ:PL 1/1:0,59:59:99:2171,157,0
3 56661320 rs2029464 T G 53.64 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.82;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C3orf63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461863 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:85,6,0
3 56661909 rs143894847 AAAT A 203.34 PASS AC=2;AF=1.00;AN=2;DB;DP=5;FS=0.0;HRun=0;HaplotypeScore=21.2407;IndelType=D;MQ=44.1;MQ0=0;QD=40.67;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C3orf63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355628 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:245,15,0
3 56666957 rs9878373 T G 131.51 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C3orf63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355628 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:164,12,0
3 56667682 rs9835332 G C 1817.39 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.664;DB;DP=51;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.55;MQ0=0;MQRankSum=-0.781;QD=35.64;ReadPosRankSum=-1.189;SNPEFF_AMINO_ACID_CHANGE=T1046R;SNPEFF_CODON_CHANGE=aCa/aGa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_56667072_56667994;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C3orf63;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000493960 GT:AD:DP:GQ:PL 1/1:1,50:51:99:1850,138,0
3 56672608 rs4681945 G C 336.08 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.61;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C3orf63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355628 GT:AD:DP:GQ:PL 1/1:0,10:10:27.09:369,27,0
3 56674190 rs1489949 A C 1023.85 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=59.23;MQ0=0;QD=34.13;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C3orf63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355628 GT:AD:DP:GQ:PL 1/1:0,29:29:78.26:1057,78,0
3 56674328 rs62251184 C T 37.12 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=12.37;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C3orf63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355628 GT:AD:DP:GQ:PL 0/1:1,2:3:27.95:67,0,28
3 56675140 rs5849158 C CACA 360.58 PASS AC=2;AF=1.00;AN=2;DB;DP=6;FS=0.0;HRun=0;HaplotypeScore=15.0106;IndelType=I;MQ=43.0;MQ0=0;QD=60.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C3orf63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355628 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:402,18,0
3 56694664 rs9820759 C A 241.41 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.49;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C3orf63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478052 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:274,21,0
3 56694877 rs9858728 A G 1616.54 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.07;MQ0=0;QD=32.33;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C3orf63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478052 GT:AD:DP:GQ:PL 1/1:0,50:50:99:1650,129,0
3 56695060 rs7619465 T A 634.70 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.9979;MQ=59.07;MQ0=0;QD=25.39;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=C3orf63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355628 GT:AD:DP:GQ:PL 1/1:0,25:25:57.15:668,57,0
3 56763316 rs1565376 G A 933.05 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.5115;MQ=57.39;MQ0=0;QD=34.56;SNPEFF_AMINO_ACID_CHANGE=H492;SNPEFF_CODON_CHANGE=caC/caT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_56763049_56763650;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000497267 GT:AD:DP:GQ:PL 1/1:0,27:27:72.23:966,72,0
3 56763328 rs1565377 T C 1125.25 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.5784;MQ=58.0;MQ0=0;QD=32.15;SNPEFF_AMINO_ACID_CHANGE=G488;SNPEFF_CODON_CHANGE=ggA/ggG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_56763049_56763650;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000497267 GT:AD:DP:GQ:PL 1/1:0,35:35:96.28:1158,96,0
3 56771251 rs3772219 A C 2643.77 PASS AC=2;AF=1.00;AN=2;DB;DP=85;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.642;MQ=60.0;MQ0=0;QD=31.1;SNPEFF_AMINO_ACID_CHANGE=L306V;SNPEFF_CODON_CHANGE=Ttg/Gtg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_56771213_56771383;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000497267 GT:AD:DP:GQ:PL 1/1:0,85:85:99:2677,223,0
3 56779011 rs2046823 G A 51.75 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296315 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:83,6,0
3 56787451 rs3821412 C T 810.26 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.83;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477440 GT:AD:DP:GQ:PL 1/1:0,22:22:63.19:843,63,0
3 56787692 rs2276720 A G 696.56 PASS AB=0.476;AC=1;AF=0.50;AN=2;BaseQRankSum=1.398;DB;DP=42;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.013;QD=16.58;ReadPosRankSum=-1.171;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477440 GT:AD:DP:GQ:PL 0/1:20,22:42:99:727,0,685
3 56992738 rs73091596 C T 169.36 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.568;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=16.94;ReadPosRankSum=1.133;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000338458 GT:AD:DP:GQ:PL 0/1:4,6:10:99:199,0,129
3 56993031 rs4626067 C T 95.33 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.92;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.05;MQ0=0;MQRankSum=0.322;QD=11.92;ReadPosRankSum=-1.221;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000338458 GT:AD:DP:GQ:PL 0/1:3,5:8:99:125,0,107
3 57131529 rs6764188 A C 36.20 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL17RD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296318 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:67,6,0
3 57132200 rs2291462 A G 1221.20 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.23;MQ0=0;QD=33.01;SNPEFF_AMINO_ACID_CHANGE=L367;SNPEFF_CODON_CHANGE=Ttg/Ctg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_57131624_57132566;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL17RD;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000320057 GT:AD:DP:GQ:PL 1/1:0,37:37:96.31:1254,96,0
3 57135518 rs2291461 C G 172.50 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.5;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL17RD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467210 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:205,15,0
3 57137090 rs2247656 A G 1338.87 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9665;MQ=59.54;MQ0=0;QD=32.66;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL17RD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467210 GT:AD:DP:GQ:PL 1/1:0,41:41:99:1372,105,0
3 57138419 rs6780995 G A 2348.52 PASS AC=2;AF=1.00;AN=2;DB;DP=70;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.55;SNPEFF_AMINO_ACID_CHANGE=T111M;SNPEFF_CODON_CHANGE=aCg/aTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_57138370_57138435;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL17RD;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000320057 GT:AD:DP:GQ:PL 1/1:0,70:70:99:2382,172,0
3 57139833 rs1545982 G A 1011.98 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.48;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL17RD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467210 GT:AD:DP:GQ:PL 1/1:0,27:27:81.23:1045,81,0
3 57139972 rs1545981 A G 1944.99 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.92;SNPEFF_AMINO_ACID_CHANGE=H196;SNPEFF_CODON_CHANGE=caT/caC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_57139885_57140036;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL17RD;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000427856 GT:AD:DP:GQ:PL 1/1:0,65:65:99:1978,162,0
3 57140108 rs2035654 G A 3347.78 PASS AC=2;AF=1.00;AN=2;DB;DP=93;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8941;MQ=59.75;MQ0=0;QD=36.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL17RD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296318 GT:AD:DP:GQ:PL 1/1:0,93:93:99:3348,253,0
3 57143376 rs9835455 T C 569.43 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=54.47;MQ0=0;QD=35.59;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL17RD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296318 GT:AD:DP:GQ:PL 1/1:0,16:16:45.15:602,45,0
3 57143995 rs6445856 A G 173.58 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.8;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL17RD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479825 GT:AD:DP:GQ:PL 1/1:0,7:7:18.03:206,18,0
3 57148968 rs11916303 C A 864.78 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.31;MQ0=0;QD=32.03;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL17RD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296318 GT:AD:DP:GQ:PL 1/1:0,27:27:69.22:898,69,0
3 57293802 rs62251992 A G 143.71 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=2.141;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.244;QD=11.98;ReadPosRankSum=0.135;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=APPL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000288266 GT:AD:DP:GQ:PL 0/1:7,5:12:99:174,0,239
3 57303478 rs10662232 A AGAATT 390.63 PASS AB=0.737;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.927;DB;DP=14;FS=0.0;HRun=0;HaplotypeScore=68.4901;IndelType=I;MQ=57.43;MQ0=0;MQRankSum=-0.533;QD=27.9;ReadPosRankSum=0.533;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=APPL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000482800 GT:AD:DP:GQ:PL 0/1:9,5:14:99:430,0,447
3 57303684 rs11544593 A G 902.98 PASS AB=0.508;AC=1;AF=0.50;AN=2;BaseQRankSum=5.082;DB;DP=63;Dels=0.0;FS=6.954;HRun=1;HaplotypeScore=0.5784;MQ=59.63;MQ0=0;MQRankSum=1.943;QD=14.33;ReadPosRankSum=-0.084;SNPEFF_AMINO_ACID_CHANGE=E700G;SNPEFF_CODON_CHANGE=gAa/gGa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_57303569_57307496;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=APPL1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000288266 GT:AD:DP:GQ:PL 0/1:32,31:63:99:933,0,875
3 57314594 rs62251997 A G 183.59 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.073;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.259;QD=15.3;ReadPosRankSum=0.779;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=APPL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000542404 GT:AD:DP:GQ:PL 0/1:6,6:12:99:214,0,198
3 57321916 rs883244 T G 751.25 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=0.981;DB;DP=64;Dels=0.0;FS=3.735;HRun=1;HaplotypeScore=0.9469;MQ=60.0;MQ0=0;MQRankSum=0.413;QD=11.74;ReadPosRankSum=-0.399;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASB14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389601 GT:AD:DP:GQ:PL 0/1:36,28:64:99:781,0,1034
3 57335691 rs62252001 T A 107.09 MQFilter40 AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.103;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=29.0;MQ0=0;MQRankSum=0.336;QD=10.71;ReadPosRankSum=-0.47;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344804 GT:AD:DP:GQ:PL 0/1:5,5:10:99:137,0,137
3 57335705 rs71921409 TACACACAC T 466.81 PASS AC=2;AF=1.00;AN=2;DB;DP=12;FS=0.0;HRun=0;HaplotypeScore=159.7484;IndelType=D;MQ=34.34;MQ0=0;QD=38.9;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344804 GT:AD:DP:GQ:PL 1/1:1,6:12:26.87:509,27,0
3 57335747 rs4681970 C T 34.66 QDFilter2 AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.59;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=45.37;MQ0=0;MQRankSum=-0.564;QD=1.33;ReadPosRankSum=0.667;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344804 GT:AD:DP:GQ:PL 0/1:13,13:26:64.65:65,0,243
3 57335876 rs4060726 C T 993.29 PASS AB=0.492;AC=1;AF=0.50;AN=2;BaseQRankSum=1.529;DB;DP=65;Dels=0.0;FS=0.938;HRun=0;HaplotypeScore=2.8706;MQ=56.35;MQ0=0;MQRankSum=0.098;QD=15.28;ReadPosRankSum=-1.292;SNPEFF_AMINO_ACID_CHANGE=G2893S;SNPEFF_CODON_CHANGE=Ggt/Agt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_57335763_57335967;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH12;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000351747 GT:AD:DP:GQ:PL 0/1:32,33:65:99:1023,0,866
3 57348685 rs150487595 GA G 179.19 PASS AB=0.654;AC=1;AF=0.50;AN=2;BaseQRankSum=0.667;DB;DP=17;FS=0.0;HRun=8;HaplotypeScore=43.3421;IndelType=D;MQ=61.88;MQ0=0;MQRankSum=0.267;QD=10.54;ReadPosRankSum=0.933;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344804 GT:AD:DP:GQ:PL 0/1:8,9:17:99:218,0,135
3 57430988 rs6768943 G A 888.53 PASS AB=0.564;AC=1;AF=0.50;AN=2;BaseQRankSum=2.423;DB;DP=79;Dels=0.0;FS=1.853;HRun=0;HaplotypeScore=0.8667;MQ=59.42;MQ0=0;MQRankSum=0.569;QD=11.25;ReadPosRankSum=-1.073;SNPEFF_AMINO_ACID_CHANGE=Y1423;SNPEFF_CODON_CHANGE=taC/taT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_57430901_57431146;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH12;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000351747 GT:AD:DP:GQ:PL 0/1:44,34:79:99:919,0,1258
3 57431985 rs2121743 G A 674.89 PASS AB=0.627;AC=1;AF=0.50;AN=2;BaseQRankSum=0.41;DB;DP=68;Dels=0.0;FS=1.024;HRun=1;HaplotypeScore=0.9967;MQ=59.73;MQ0=0;MQRankSum=-0.04;QD=9.92;ReadPosRankSum=0.291;SNPEFF_AMINO_ACID_CHANGE=L1295;SNPEFF_CODON_CHANGE=Ctg/Ttg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_57431758_57431997;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH12;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000351747 GT:AD:DP:GQ:PL 0/1:42,25:68:99:705,0,1314
3 57432064 rs2121742 C T 427.83 PASS AB=0.48;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.822;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.07;MQ0=0;MQRankSum=-0.789;QD=17.11;ReadPosRankSum=-0.626;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000351747 GT:AD:DP:GQ:PL 0/1:12,13:25:99:458,0,345
3 57438710 . C A 178.41 FSFilter60;HaplotypeScoreFilter13 AB=0.288;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.541;DP=66;Dels=0.0;FS=61.475;HRun=2;HaplotypeScore=13.7367;MQ=44.38;MQ0=0;MQRankSum=-4.867;QD=2.7;ReadPosRankSum=1.702;SNPEFF_AMINO_ACID_CHANGE=A1193S;SNPEFF_CODON_CHANGE=Gct/Tct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_57438570_57438742;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH12;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000351747 GT:AD:DP:GQ:PL 0/1:19,47:66:99:208,0,629
3 57456093 rs35152693 C CA 191.99 PASS AB=0.677;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.409;DB;DP=21;FS=0.0;HRun=10;HaplotypeScore=65.7542;IndelType=I;MQ=59.42;MQ0=0;MQRankSum=0.041;QD=9.14;ReadPosRankSum=-0.694;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000351747 GT:AD:DP:GQ:PL 0/1:11,10:21:99:231,0,189
3 57456371 rs9871422 T C 753.78 PASS AB=0.574;AC=1;AF=0.50;AN=2;BaseQRankSum=1.655;DB;DP=61;Dels=0.0;FS=2.974;HRun=0;HaplotypeScore=1.5661;MQ=60.0;MQ0=0;MQRankSum=-0.518;QD=12.36;ReadPosRankSum=-1.509;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000351747 GT:AD:DP:GQ:PL 0/1:35,26:61:99:784,0,1083
3 57457123 rs6445886 C T 190.32 PASS AB=0.593;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.29;DB;DP=27;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.079;QD=7.05;ReadPosRankSum=-0.764;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000351747 GT:AD:DP:GQ:PL 0/1:16,11:27:99:220,0,494
3 57457440 rs6445887 A C 172.72 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.036;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.036;QD=17.27;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000351747 GT:AD:DP:GQ:PL 0/1:4,6:10:99:203,0,124
3 57469053 rs9826084 A C 878.57 PASS AB=0.597;AC=1;AF=0.50;AN=2;BaseQRankSum=3.866;DB;DP=72;Dels=0.0;FS=1.374;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.801;QD=12.2;ReadPosRankSum=0.86;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000351747 GT:AD:DP:GQ:PL 0/1:43,29:72:99:909,0,1392
3 57469097 rs9863860 C T 1068.44 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.647;DB;DP=107;Dels=0.0;FS=2.959;HRun=2;HaplotypeScore=2.2426;MQ=59.35;MQ0=0;MQRankSum=0.871;QD=9.99;ReadPosRankSum=-0.401;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000351747 GT:AD:DP:GQ:PL 0/1:63,42:107:99:1098,0,2034
3 57469272 rs9864150 C T 809.68 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.532;DB;DP=63;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.89;MQ0=0;MQRankSum=-0.35;QD=12.85;ReadPosRankSum=1.89;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000351747 GT:AD:DP:GQ:PL 0/1:36,27:63:99:840,0,1224
3 57469348 rs35624030 A AT 140.84 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.123;DB;DP=15;FS=0.0;HRun=0;HaplotypeScore=68.947;IndelType=I;MQ=56.85;MQ0=0;MQRankSum=1.041;QD=9.39;ReadPosRankSum=2.143;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000351747 GT:AD:DP:GQ:PL 0/1:10,5:15:99:180,0,364
3 57469357 rs10510792 G T 272.84 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.123;DB;DP=15;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.9681;MQ=56.85;MQ0=0;MQRankSum=-0.429;QD=18.19;ReadPosRankSum=-1.898;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000351747 GT:AD:DP:GQ:PL 0/1:5,10:15:99:303,0,171
3 57475351 rs6806444 T G 708.84 PASS AB=0.426;AC=1;AF=0.50;AN=2;BaseQRankSum=2.132;DB;DP=47;Dels=0.0;FS=1.256;HRun=1;HaplotypeScore=0.0;MQ=58.51;MQ0=0;MQRankSum=-0.782;QD=15.08;ReadPosRankSum=0.498;SNPEFF_AMINO_ACID_CHANGE=T467P;SNPEFF_CODON_CHANGE=Act/Cct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_57475236_57475414;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH12;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000351747 GT:AD:DP:GQ:PL 0/1:20,27:47:99:739,0,626
3 57489591 rs4681992 C A 35.45 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=1.026;QD=8.86;ReadPosRankSum=1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000311202 GT:AD:DP:GQ:PL 0/1:2,2:4:65.45:65,0,70
3 57493989 rs13072470 T A 61.59 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.922;DB;DP=7;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=1.5115;MQ=59.07;MQ0=0;MQRankSum=-0.922;QD=8.8;ReadPosRankSum=0.922;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000311202 GT:AD:DP:GQ:PL 0/1:2,5:7:64.96:92,0,65
3 57528503 rs9311651 A G 780.09 PASS AB=0.532;AC=1;AF=0.50;AN=2;BaseQRankSum=1.256;DB;DP=62;Dels=0.0;FS=2.07;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.016;QD=12.58;ReadPosRankSum=-1.495;SNPEFF_AMINO_ACID_CHANGE=V32A;SNPEFF_CODON_CHANGE=gTt/gCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_57528428_57528630;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAH12;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000311202 GT:AD:DP:GQ:PL 0/1:33,29:62:99:810,0,1040
3 57542173 rs2241988 C T 139.17 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.426;DB;DP=12;Dels=0.0;FS=3.424;HRun=0;HaplotypeScore=0.0;MQ=58.05;MQ0=0;MQRankSum=0.259;QD=11.6;ReadPosRankSum=0.869;SNPEFF_AMINO_ACID_CHANGE=R23W;SNPEFF_CODON_CHANGE=Cgg/Tgg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_57542004_57543414;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDE12;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000311180 GT:AD:DP:GQ:PL 0/1:6,6:12:99:169,0,211
3 57544841 rs4681999 C G 62.13 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.71;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDE12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000311180 GT:AD:DP:GQ:PL 1/1:0,3:3:9.01:94,9,0
3 57544923 rs57375057 G A 109.93 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.461;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.05;MQ0=0;MQRankSum=-0.38;QD=9.16;ReadPosRankSum=0.135;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDE12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000311180 GT:AD:DP:GQ:PL 0/1:7,5:12:99:140,0,247
3 57544959 . AAAAC A 332.89 PASS AB=0.719;AC=1;AF=0.50;AN=2;BaseQRankSum=2.736;DP=23;FS=0.0;HRun=0;HaplotypeScore=136.8344;IndelType=D;MQ=58.45;MQ0=0;MQRankSum=-0.817;QD=14.47;ReadPosRankSum=-0.817;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDE12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000311180 GT:AD:DP:GQ:PL 0/1:14,9:23:99:372,0,741
3 57545169 rs3832195 G GC 773.24 PASS AB=0.71;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.319;DB;DP=49;FS=8.769;HRun=0;HaplotypeScore=105.5524;IndelType=I;MQ=60.41;MQ0=0;MQRankSum=0.153;QD=15.78;ReadPosRankSum=-0.885;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDE12;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000311180 GT:AD:DP:GQ:PL 0/1:29,20:49:99:812,0,1061
3 57561598 rs6808217 A G 37.42 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=1.231;QD=7.48;ReadPosRankSum=0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARF4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000303436 GT:AD:DP:GQ:PL 0/1:3,2:5:67.41:67,0,107
3 57582718 rs80159797 GAAA G 237.95 PASS AB=0.696;AC=1;AF=0.50;AN=2;BaseQRankSum=1.91;DB;DP=16;FS=0.0;HRun=7;HaplotypeScore=66.8527;IndelType=D;MQ=55.52;MQ0=0;MQRankSum=-0.289;QD=14.87;ReadPosRankSum=0.637;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARF4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000488156 GT:AD:DP:GQ:PL 0/1:9,7:16:99:277,0,492
3 57627500 rs9873675 T C 323.78 PASS AB=0.435;AC=1;AF=0.50;AN=2;BaseQRankSum=1.954;DB;DP=23;Dels=0.0;FS=2.103;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.279;QD=14.08;ReadPosRankSum=0.837;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM116A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000311128 GT:AD:DP:GQ:PL 0/1:10,13:23:99:354,0,324
3 57882601 rs17058639 C T 1390.30 PASS AB=0.558;AC=1;AF=0.50;AN=2;BaseQRankSum=4.162;DB;DP=113;Dels=0.0;FS=3.536;HRun=0;HaplotypeScore=0.0;MQ=59.8;MQ0=0;MQRankSum=0.0;QD=12.3;ReadPosRankSum=0.68;SNPEFF_AMINO_ACID_CHANGE=D426;SNPEFF_CODON_CHANGE=gaC/gaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_57882600_57882659;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SLMAP;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000449503 GT:AD:DP:GQ:PL 0/1:63,50:113:99:1420,0,1739
3 57893507 rs9864975 A G 115.04 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.017;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.421;QD=14.38;ReadPosRankSum=2.017;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SLMAP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295951 GT:AD:DP:GQ:PL 0/1:4,4:8:99:145,0,136
3 58080400 rs74513320 C T 464.29 PASS AB=0.516;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.878;DB;DP=31;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.9958;MQ=60.0;MQ0=0;MQRankSum=-0.02;QD=14.98;ReadPosRankSum=2.668;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FLNB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295956 GT:AD:DP:GQ:PL 0/1:16,15:31:99:494,0,574
3 58080505 rs7644723 G T 5250.03 PASS AC=2;AF=1.00;AN=2;DB;DP=150;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.85;MQ0=0;QD=35.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FLNB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295956 GT:AD:DP:GQ:PL 1/1:0,150:150:99:5250,385,0
3 58081888 rs1522384 T C 1319.05 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.98;SNPEFF_AMINO_ACID_CHANGE=S140;SNPEFF_CODON_CHANGE=agT/agC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_58081868_58081945;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FLNB;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000419752 GT:AD:DP:GQ:PL 1/1:0,40:40:99:1352,102,0
3 58083446 rs939882 G A 208.51 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.79;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FLNB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295956 GT:AD:DP:GQ:PL 1/1:0,7:7:18.06:241,18,0
3 58084795 rs3732638 A G 116.42 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FLNB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295956 GT:AD:DP:GQ:PL 1/1:0,4:4:12.02:149,12,0
3 58089516 rs6445945 A G 49.99 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=12.5;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FLNB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295956 GT:AD:DP:GQ:PL 1/1:0,4:4:6.02:81,6,0
3 58089585 rs6445946 T A 205.66 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.684;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.01;QD=12.1;ReadPosRankSum=-0.818;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FLNB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295956 GT:AD:DP:GQ:PL 0/1:8,9:17:99:236,0,264
3 58089594 rs35856102 GT G 362.44 PASS AB=0.647;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.011;DB;DP=22;FS=0.0;HRun=4;HaplotypeScore=87.0619;IndelType=D;MQ=60.98;MQ0=0;MQRankSum=0.363;QD=16.47;ReadPosRankSum=-0.692;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FLNB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295956 GT:AD:DP:GQ:PL 0/1:10,12:22:99:401,0,384
3 58089877 rs1522386 A G 246.98 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FLNB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295956 GT:AD:DP:GQ:PL 1/1:0,8:8:21.07:280,21,0
3 58090893 rs150747960 G A 792.11 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.904;DB;DP=56;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.6545;MQ=59.27;MQ0=0;MQRankSum=0.682;QD=13.9;ReadPosRankSum=1.288;SNPEFF_AMINO_ACID_CHANGE=R397Q;SNPEFF_CODON_CHANGE=cGg/cAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_58090807_58090943;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FLNB;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000419752 GT:AD:DP:GQ:PL 0/1:28,28:56:99:822,0,830
3 58094157 rs2259091 A G 195.42 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.588;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.847;QD=12.21;ReadPosRankSum=-1.482;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FLNB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295956 GT:AD:DP:GQ:PL 0/1:9,7:16:99:225,0,288
3 58094852 rs7634236 C T 290.54 PASS AB=0.357;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.849;DB;DP=14;Dels=0.0;FS=5.119;HRun=1;HaplotypeScore=0.0;MQ=58.66;MQ0=0;MQRankSum=0.231;QD=20.75;ReadPosRankSum=1.003;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FLNB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295956 GT:AD:DP:GQ:PL 0/1:5,9:14:99:321,0,127
3 58095466 rs2708318 G T 1161.48 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FLNB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295956 GT:AD:DP:GQ:PL 1/1:0,31:32:87.29:1194,87,0
3 58095500 rs2686635 G T 897.58 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.9;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FLNB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295956 GT:AD:DP:GQ:PL 1/1:0,25:25:69.21:931,69,0
3 58095945 rs2686634 T G 87.20 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=0.231;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.849;QD=5.81;ReadPosRankSum=1.003;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FLNB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295956 GT:AD:DP:GQ:PL 0/1:10,4:15:99:117,0,295
3 58097396 rs2686632 T C 112.32 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.638;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.421;QD=14.04;ReadPosRankSum=-2.017;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FLNB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295956 GT:AD:DP:GQ:PL 0/1:4,4:8:99:142,0,145
3 58104877 rs3732634 G A 31.94 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.358;QD=6.39;ReadPosRankSum=0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FLNB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295956 GT:AD:DP:GQ:PL 0/1:3,2:5:61.94:62,0,110
3 58109162 rs1131356 G A 746.17 PASS AB=0.561;AC=1;AF=0.50;AN=2;BaseQRankSum=0.349;DB;DP=66;Dels=0.0;FS=3.606;HRun=1;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=0.504;QD=11.31;ReadPosRankSum=-1.279;SNPEFF_AMINO_ACID_CHANGE=D1157N;SNPEFF_CODON_CHANGE=Gac/Aac;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_58108820_58109417;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FLNB;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000295956 GT:AD:DP:GQ:PL 0/1:37,29:66:99:776,0,1215
3 58111285 rs3732633 T G 325.88 PASS AB=0.586;AC=1;AF=0.50;AN=2;BaseQRankSum=2.577;DB;DP=29;Dels=0.0;FS=3.08;HRun=1;HaplotypeScore=0.9947;MQ=59.2;MQ0=0;MQRankSum=-0.812;QD=11.24;ReadPosRankSum=0.162;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FLNB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295956 GT:AD:DP:GQ:PL 0/1:17,12:29:99:356,0,516
3 58112251 rs12495232 A G 189.22 PASS AB=0.611;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.449;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.71;MQ0=0;MQRankSum=0.906;QD=10.51;ReadPosRankSum=2.083;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FLNB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295956 GT:AD:DP:GQ:PL 0/1:11,7:18:99:219,0,390
3 58112440 rs2362903 A G 1882.82 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.46;SNPEFF_AMINO_ACID_CHANGE=A1222;SNPEFF_CODON_CHANGE=gcA/gcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_58112329_58112489;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FLNB;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000419752 GT:AD:DP:GQ:PL 1/1:0,58:58:99:1916,144,0
3 58112488 rs2362904 C T 405.72 PASS AB=0.519;AC=1;AF=0.50;AN=2;BaseQRankSum=3.033;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.626;QD=15.03;ReadPosRankSum=-0.607;SNPEFF_AMINO_ACID_CHANGE=P1238;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_58112329_58112489;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FLNB;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000419752 GT:AD:DP:GQ:PL 0/1:14,13:27:99:436,0,365
3 58112556 rs2362905 G C 187.54 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=0.278;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.663;QD=17.05;ReadPosRankSum=0.896;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FLNB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295956 GT:AD:DP:GQ:PL 0/1:4,7:11:99:218,0,136
3 58116358 rs4475005 C T 79.71 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=15.94;ReadPosRankSum=0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FLNB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295956 GT:AD:DP:GQ:PL 0/1:2,3:5:68.83:110,0,69
3 58116369 rs1882692 T C 72.94 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=1.754;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.937;QD=10.42;ReadPosRankSum=0.937;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FLNB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295956 GT:AD:DP:GQ:PL 0/1:4,3:7:99:103,0,137
3 58118555 rs12632456 G A 468.28 PASS AB=0.419;AC=1;AF=0.50;AN=2;BaseQRankSum=2.344;DB;DP=31;Dels=0.0;FS=5.782;HRun=0;HaplotypeScore=0.9332;MQ=60.0;MQ0=0;MQRankSum=0.795;QD=15.11;ReadPosRankSum=-1.256;SNPEFF_AMINO_ACID_CHANGE=V1302M;SNPEFF_CODON_CHANGE=Gtg/Atg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_58118535_58118658;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FLNB;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000419752 GT:AD:DP:GQ:PL 0/1:13,18:31:99:498,0,394
3 58118700 rs12638356 A G 58.09 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.55;QD=8.3;ReadPosRankSum=0.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FLNB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295956 GT:AD:DP:GQ:PL 0/1:4,3:7:88.09:88,0,138
3 58121626 rs6445948 T A 235.01 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.57;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FLNB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295956 GT:AD:DP:GQ:PL 1/1:0,7:7:21.06:268,21,0
3 58129450 rs9826147 A G 76.51 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=19.13;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FLNB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295956 GT:AD:DP:GQ:PL 0/1:1,3:4:28.61:106,0,29
3 58133803 rs72402276 AT A 74.26 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=1.92;DB;DP=8;FS=0.0;HRun=9;HaplotypeScore=18.4651;IndelType=D;MQ=60.0;MQ0=0;MQRankSum=1.221;QD=9.28;ReadPosRankSum=0.956;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FLNB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295956 GT:AD:DP:GQ:PL 0/1:3,5:8:79.86:113,0,80
3 58140768 rs13075269 G A 108.94 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.307;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.307;QD=12.1;ReadPosRankSum=-0.361;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FLNB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470231 GT:AD:DP:GQ:PL 0/1:4,5:9:99:139,0,142
3 58145263 rs12634123 G A 1458.07 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.5784;MQ=59.41;MQ0=0;QD=37.39;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FLNB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295956 GT:AD:DP:GQ:PL 1/1:0,39:39:99:1491,111,0
3 58154177 rs13079906 G A 156.42 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.528;DB;DP=20;Dels=0.0;FS=2.162;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.867;QD=7.82;ReadPosRankSum=-0.537;SNPEFF_AMINO_ACID_CHANGE=S2210;SNPEFF_CODON_CHANGE=tcG/tcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_58154167_58154385;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FLNB;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000493452 GT:AD:DP:GQ:PL 0/1:12,8:20:99:186,0,292
3 58154327 rs8640 C T 684.26 PASS AB=0.172;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.029;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.6208;MQ=60.0;MQ0=0;MQRankSum=-0.895;QD=23.6;ReadPosRankSum=-0.491;SNPEFF_AMINO_ACID_CHANGE=S2260;SNPEFF_CODON_CHANGE=agC/agT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_58154167_58154385;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FLNB;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000493452 GT:AD:DP:GQ:PL 0/1:5,24:29:99:714,0,123
3 58155230 rs9870243 C G 178.63 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.067;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.45;MQ0=0;MQRankSum=0.068;QD=11.91;ReadPosRankSum=0.201;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FLNB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295956 GT:AD:DP:GQ:PL 0/1:7,7:15:99:209,0,237
3 58179028 rs3732630 T C 419.08 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.43;MQ0=0;QD=34.92;SNPEFF_AMINO_ACID_CHANGE=K281;SNPEFF_CODON_CHANGE=aaA/aaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_58178354_58179166;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNASE1L3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000450710 GT:AD:DP:GQ:PL 1/1:0,12:12:36.11:452,36,0
3 58179318 rs9812109 C T 49.41 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.7;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNASE1L3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318316 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
3 58186911 rs4234389 A G 826.23 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.56;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNASE1L3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460422 GT:AD:DP:GQ:PL 1/1:0,22:22:63.21:859,63,0
3 58191242 rs17058970 C G 752.43 PASS AB=0.464;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.025;DB;DP=56;Dels=0.0;FS=5.297;HRun=1;HaplotypeScore=0.9734;MQ=59.59;MQ0=0;MQRankSum=0.797;QD=13.44;ReadPosRankSum=0.353;SNPEFF_AMINO_ACID_CHANGE=R92;SNPEFF_CODON_CHANGE=cgG/cgC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_58191198_58191287;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNASE1L3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000318316 GT:AD:DP:GQ:PL 0/1:26,30:56:99:782,0,850
3 58191266 rs2070117 C T 608.10 PASS AB=0.558;AC=1;AF=0.50;AN=2;BaseQRankSum=3.574;DB;DP=52;Dels=0.0;FS=2.518;HRun=0;HaplotypeScore=0.0;MQ=59.56;MQ0=0;MQRankSum=0.258;QD=11.69;ReadPosRankSum=0.24;SNPEFF_AMINO_ACID_CHANGE=T84;SNPEFF_CODON_CHANGE=acG/acA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_58191198_58191287;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNASE1L3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000318316 GT:AD:DP:GQ:PL 0/1:29,23:52:99:638,0,807
3 58191433 rs9311671 G A 105.10 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.38;QD=17.52;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNASE1L3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463694 GT:AD:DP:GQ:PL 0/1:2,4:6:60.52:135,0,61
3 58270963 rs6774235 T C 761.87 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.12;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABHD6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295962 GT:AD:DP:GQ:PL 1/1:0,23:23:63.20:795,63,0
3 58296209 rs111298198 CT C 296.54 PASS AB=0.691;AC=1;AF=0.50;AN=2;BaseQRankSum=2.837;DB;DP=56;FS=0.0;HRun=12;HaplotypeScore=156.4718;IndelType=D;MQ=59.56;MQ0=0;MQRankSum=0.256;QD=5.3;ReadPosRankSum=-1.132;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RP11-80H18.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000544156 GT:AD:DP:GQ:PL 0/1:31,25:56:99:336,0,551
3 58302040 rs4681677 A G 48.72 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RP11-80H18.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000544156 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:80,6,0
3 58302404 rs2292674 A T 208.64 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.208;DB;DP=18;Dels=0.0;FS=0.0;HRun=6;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.088;QD=11.59;ReadPosRankSum=-0.088;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RPP14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461797 GT:AD:DP:GQ:PL 0/1:9,9:18:99:239,0,303
3 58303069 rs3773012 C T 357.60 PASS AB=0.45;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.76;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9999;MQ=60.0;MQ0=0;MQRankSum=-0.38;QD=17.88;ReadPosRankSum=1.519;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RPP14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461797 GT:AD:DP:GQ:PL 0/1:9,11:20:99:388,0,307
3 58303123 rs1473971 G A 801.91 PASS AB=0.297;AC=1;AF=0.50;AN=2;BaseQRankSum=0.349;DB;DP=37;Dels=0.0;FS=5.282;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.213;QD=21.67;ReadPosRankSum=-0.648;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RPP14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461797 GT:AD:DP:GQ:PL 0/1:11,26:37:99:832,0,340
3 58351660 rs111264652 C CT 410.55 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.536;DB;DP=40;FS=0.0;HRun=15;HaplotypeScore=213.1927;IndelType=I;MQ=55.83;MQ0=0;MQRankSum=-0.307;QD=10.26;ReadPosRankSum=-0.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PXK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302779 GT:AD:DP:GQ:PL 1/1:18,17:40:29.19:453,29,0
3 58355230 rs75261945 C T 302.24 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=0.888;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-2.594;QD=14.39;ReadPosRankSum=0.604;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PXK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302779 GT:AD:DP:GQ:PL 0/1:9,12:21:99:332,0,277
3 58355273 rs9867320 G C 251.30 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.13;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PXK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302779 GT:AD:DP:GQ:PL 1/1:0,10:10:24.07:284,24,0
3 58368219 rs10662181 C CT 138.71 PASS AB=0.688;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.551;DB;DP=22;FS=0.0;HRun=17;HaplotypeScore=179.6335;IndelType=I;MQ=53.36;MQ0=0;MQRankSum=0.429;QD=6.3;ReadPosRankSum=0.796;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PXK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302779 GT:AD:DP:GQ:PL 0/1:10,9:22:17.10:178,0,17
3 58368357 rs56141849 T C 823.47 PASS AB=0.483;AC=1;AF=0.50;AN=2;BaseQRankSum=1.748;DB;DP=58;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.6809;MQ=58.8;MQ0=0;MQRankSum=1.397;QD=14.2;ReadPosRankSum=-0.168;SNPEFF_AMINO_ACID_CHANGE=N106;SNPEFF_CODON_CHANGE=aaT/aaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_58368241_58368427;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PXK;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000356151 GT:AD:DP:GQ:PL 0/1:28,30:58:99:853,0,771
3 58381120 rs4553989 T A 50.52 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PXK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302779 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
3 58381180 rs4553990 T A 41.43 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.026;QD=10.36;ReadPosRankSum=-1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PXK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302779 GT:AD:DP:GQ:PL 0/1:2,2:4:69.73:71,0,70
3 58381262 rs62258105 C T 242 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.295;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.237;QD=16.13;ReadPosRankSum=-1.12;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PXK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302779 GT:AD:DP:GQ:PL 0/1:6,9:15:99:272,0,203
3 58385194 rs4075152 T C 81.85 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.28;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PXK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302779 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:114,9,0
3 58396024 rs57857883 G T 105.59 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.922;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.922;QD=13.2;ReadPosRankSum=-0.922;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PXK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302779 GT:AD:DP:GQ:PL 0/1:4,4:8:99:136,0,141
3 58398466 rs12635366 C T 215.86 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.62;MQ0=0;QD=30.84;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PXK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302779 GT:AD:DP:GQ:PL 1/1:0,7:7:21.06:249,21,0
3 58398813 rs13071422 A G 441.95 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.83;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PXK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302779 GT:AD:DP:GQ:PL 1/1:0,12:12:36.12:475,36,0
3 58398877 rs74377825 G A 131.42 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.495;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.198;QD=18.77;ReadPosRankSum=0.922;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PXK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302779 GT:AD:DP:GQ:PL 0/1:2,5:7:62.81:161,0,63
3 58410748 rs76887010 C T 184.59 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.637;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.05;MQ0=0;MQRankSum=0.289;QD=15.38;ReadPosRankSum=-1.932;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDHB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302746 GT:AD:DP:GQ:PL 0/1:4,8:12:99:215,0,132
3 58414052 rs6445980 C G 33.41 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.198;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.922;QD=4.18;ReadPosRankSum=0.198;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDHB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469827 GT:AD:DP:GQ:PL 0/1:5,2:8:63.40:63,0,177
3 58414382 rs62259769 C T 161.17 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.377;DB;DP=13;Dels=0.0;FS=5.756;HRun=0;HaplotypeScore=0.0;MQ=58.55;MQ0=0;MQRankSum=0.101;QD=12.4;ReadPosRankSum=-0.811;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDHB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469827 GT:AD:DP:GQ:PL 0/1:6,7:13:99:191,0,203
3 58415590 rs2070662 C A 697.42 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.75;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDHB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469827 GT:AD:DP:GQ:PL 1/1:0,18:18:54.18:730,54,0
3 58416538 rs4264746 T C 2402.97 PASS AC=2;AF=1.00;AN=2;DB;DP=73;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.92;SNPEFF_AMINO_ACID_CHANGE=R127;SNPEFF_CODON_CHANGE=agA/agG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_58416384_58416669;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDHB;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000383714 GT:AD:DP:GQ:PL 1/1:0,73:73:99:2436,190,0
3 58417190 rs7644457 G C 358.35 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=0.231;DB;DP=26;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.026;QD=13.78;ReadPosRankSum=0.077;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDHB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302746 GT:AD:DP:GQ:PL 0/1:14,12:26:99:388,0,447
3 58520306 rs7611026 G C 757.97 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.84;MQ0=0;QD=37.9;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ACOX2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302819 GT:AD:DP:GQ:PL 1/1:0,20:20:57.19:791,57,0
3 58520859 rs4681862 A G 3526.83 PASS AC=2;AF=1.00;AN=2;DB;DP=96;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=59.28;MQ0=0;QD=36.74;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ACOX2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466689 GT:AD:DP:GQ:PL 1/1:0,96:96:99:3527,256,0
3 58552329 rs11539086 C G 455.40 PASS AB=0.528;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.422;DB;DP=37;Dels=0.0;FS=3.178;HRun=0;HaplotypeScore=0.0;MQ=59.38;MQ0=0;MQRankSum=-0.412;QD=12.31;ReadPosRankSum=1.679;SNPEFF_AMINO_ACID_CHANGE=E141Q;SNPEFF_CODON_CHANGE=Gag/Cag;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_58549844_58552422;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM107A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000360997 GT:AD:DP:GQ:PL 0/1:19,17:37:99:485,0,656
3 58553160 rs7637862 T G 50.05 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.02;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM107A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360997 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
3 58555343 rs7632668 C T 431.87 PASS AB=0.537;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.575;DB;DP=41;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=59.44;MQ0=0;MQRankSum=-0.51;QD=10.53;ReadPosRankSum=-0.144;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM107A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360997 GT:AD:DP:GQ:PL 0/1:22,19:41:99:462,0,622
3 58555386 rs7609991 G T 639.96 PASS AB=0.569;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.101;DB;DP=51;Dels=0.0;FS=2.453;HRun=2;HaplotypeScore=0.5784;MQ=59.09;MQ0=0;MQRankSum=0.655;QD=12.55;ReadPosRankSum=-0.459;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM107A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360997 GT:AD:DP:GQ:PL 0/1:29,22:51:99:670,0,764
3 58621935 rs6791782 C T 1215.88 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.92;MQ0=0;QD=28.28;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM3D;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000482623 GT:AD:DP:GQ:PL 1/1:0,43:43:99:1249,99,0
3 58625875 rs33966924 C A 1812.70 PASS AB=0.48;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.355;DB;DP=123;Dels=0.0;FS=0.692;HRun=0;HaplotypeScore=0.9995;MQ=59.62;MQ0=0;MQRankSum=0.044;QD=14.74;ReadPosRankSum=0.641;SNPEFF_AMINO_ACID_CHANGE=A117S;SNPEFF_CODON_CHANGE=Gca/Tca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_58625854_58625904;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM3D;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000483787 GT:AD:DP:GQ:PL 0/1:59,64:123:99:1843,0,1664
3 58625975 rs3749287 C G 698.45 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.626;DB;DP=46;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.8939;MQ=60.0;MQ0=0;MQRankSum=-0.945;QD=15.18;ReadPosRankSum=0.857;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM3D;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000498347 GT:AD:DP:GQ:PL 0/1:23,23:46:99:728,0,756
3 58631184 rs111621495 G GAAATA 587.53 PASS AC=2;AF=1.00;AN=2;DB;DP=8;FS=0.0;HRun=0;HaplotypeScore=28.7341;IndelType=I;MQ=58.19;MQ0=0;QD=73.44;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM3D;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358781 GT:AD:DP:GQ:PL 1/1:0,7:8:24.08:630,24,0
3 58641352 rs57504511 C T 260.58 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.57;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM3D;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358781 GT:AD:DP:GQ:PL 1/1:0,8:8:21.07:294,21,0
3 58870148 rs9826422 T G 279.33 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=1.288;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.666;QD=15.52;ReadPosRankSum=0.933;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf67;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479931 GT:AD:DP:GQ:PL 0/1:8,10:18:99:309,0,257
3 59996927 rs4679626 T C 44.02 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.01;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FHIT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000488467 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:75,6,0
3 59996969 rs4679627 C T 255.87 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.55;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FHIT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000488467 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:289,21,0
3 59999690 rs13067835 T C 1383.03 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.16;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FHIT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000488467 GT:AD:DP:GQ:PL 1/1:0,43:43:99:1416,108,0
3 60898271 rs6793737 G A 699.42 PASS AB=0.421;AC=1;AF=0.50;AN=2;BaseQRankSum=1.487;DB;DP=38;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.39;MQ0=0;MQRankSum=-0.107;QD=18.41;ReadPosRankSum=1.119;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FHIT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468189 GT:AD:DP:GQ:PL 0/1:16,22:38:99:729,0,539
3 60898434 rs11130795 T C 3725.44 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.13;DB;DP=240;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=4.1476;MQ=59.81;MQ0=0;MQRankSum=-0.377;QD=15.52;ReadPosRankSum=-0.086;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FHIT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468189 GT:AD:DP:GQ:PL 0/1:112,128:240:99:3725,0,3353
3 61728256 rs680294 G T 2281.81 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=74;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=39.27;MQ0=1;QD=30.42;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PTPRG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295874 GT:AD:DP:GQ:PL 1/1:0,74:74:99:2315,195,0
3 61728564 rs3817452 G A 2424.35 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.45;MQ0=0;QD=36.73;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PTPRG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295874 GT:AD:DP:GQ:PL 1/1:0,66:66:99:2457,181,0
3 61734539 rs3821880 T C 646.95 PASS AB=0.468;AC=1;AF=0.50;AN=2;BaseQRankSum=3.043;DB;DP=47;Dels=0.0;FS=1.219;HRun=2;HaplotypeScore=1.9025;MQ=58.51;MQ0=0;MQRankSum=1.698;QD=13.76;ReadPosRankSum=-0.838;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PTPRG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295874 GT:AD:DP:GQ:PL 0/1:22,25:47:99:677,0,622
3 61975382 rs62620047 T C 808.72 PASS AB=0.395;AC=1;AF=0.50;AN=2;BaseQRankSum=2.273;DB;DP=43;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=59.46;MQ0=0;MQRankSum=0.137;QD=18.81;ReadPosRankSum=0.609;SNPEFF_AMINO_ACID_CHANGE=Y92H;SNPEFF_CODON_CHANGE=Tat/Cat;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_61975299_61975478;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PTPRG;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000295874 GT:AD:DP:GQ:PL 0/1:17,26:43:99:839,0,521
3 62110366 rs13065389 C T 60.89 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=2.166;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=0.895;QD=6.09;ReadPosRankSum=0.546;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PTPRG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295874 GT:AD:DP:GQ:PL 0/1:7,3:10:90.89:91,0,199
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3 62229553 rs1352882 C T 1286.79 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.64;SNPEFF_AMINO_ACID_CHANGE=I787;SNPEFF_CODON_CHANGE=atC/atT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_62229481_62229572;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PTPRG;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000295874 GT:AD:DP:GQ:PL 1/1:0,42:42:99:1320,99,0
3 62258871 rs35559789 G A 78.59 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.231;QD=15.72;ReadPosRankSum=0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PTPRG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295874 GT:AD:DP:GQ:PL 0/1:2,3:5:68.24:109,0,68
3 62263116 rs9823242 T C 133.82 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=0.135;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.05;MQ0=0;MQRankSum=0.529;QD=11.15;ReadPosRankSum=0.529;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PTPRG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295874 GT:AD:DP:GQ:PL 0/1:7,5:12:99:164,0,242
3 62268609 . A G 507.21 PASS AB=0.448;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.602;DP=29;Dels=0.0;FS=3.68;HRun=1;HaplotypeScore=0.9578;MQ=58.55;MQ0=0;MQRankSum=-0.766;QD=17.49;ReadPosRankSum=1.091;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PTPRG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295874 GT:AD:DP:GQ:PL 0/1:13,16:29:99:537,0,429
3 62357093 . C A 76.46 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=0.212;DP=13;Dels=0.0;FS=3.123;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.817;QD=5.88;ReadPosRankSum=-0.817;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FEZF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283268 GT:AD:DP:GQ:PL 0/1:8,5:13:99:106,0,259
3 62431401 rs10708769 AC A 603.55 PASS AC=2;AF=1.00;AN=2;DB;DP=20;FS=0.0;HRun=1;HaplotypeScore=206.9556;IndelType=D;MQ=43.56;MQ0=0;QD=30.18;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CADPS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283269 GT:AD:DP:GQ:PL 1/1:3,17:20:57.11:646,57,0
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3 62477233 rs35911391 A AAC 172.88 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.198;DB;DP=10;FS=0.0;HRun=0;HaplotypeScore=67.1686;IndelType=I;MQ=64.19;MQ0=0;MQRankSum=1.495;QD=17.29;ReadPosRankSum=-0.922;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CADPS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283269 GT:AD:DP:GQ:PL 0/1:4,5:10:8.56:212,0,9
3 62477699 rs9871763 C A 41.63 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=53.44;MQ0=0;MQRankSum=0.736;QD=13.88;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CADPS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283269 GT:AD:DP:GQ:PL 0/1:1,2:3:30.98:72,0,31
3 62498378 rs1376917 G A 308.11 PASS AB=0.613;AC=1;AF=0.50;AN=2;BaseQRankSum=0.426;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=2.291;QD=9.94;ReadPosRankSum=-0.953;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CADPS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283269 GT:AD:DP:GQ:PL 0/1:19,12:31:99:338,0,616
3 62535819 rs9813819 C G 582.31 PASS AB=0.596;AC=1;AF=0.50;AN=2;BaseQRankSum=2.005;DB;DP=47;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.268;QD=12.39;ReadPosRankSum=0.596;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CADPS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283269 GT:AD:DP:GQ:PL 0/1:28,19:47:99:612,0,987
3 62543001 rs9823503 G T 189.56 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=1.422;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.573;QD=21.06;ReadPosRankSum=1.001;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CADPS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283269 GT:AD:DP:GQ:PL 0/1:3,6:9:83.97:220,0,84
3 62543123 rs4396888 T C 728.35 PASS AB=0.51;AC=1;AF=0.50;AN=2;BaseQRankSum=5.345;DB;DP=50;Dels=0.0;FS=1.164;HRun=0;HaplotypeScore=1.581;MQ=59.63;MQ0=0;MQRankSum=-0.454;QD=14.57;ReadPosRankSum=-1.383;SNPEFF_AMINO_ACID_CHANGE=L570;SNPEFF_CODON_CHANGE=ctA/ctG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_62543080_62543188;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CADPS;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000283269 GT:AD:DP:GQ:PL 0/1:25,24:50:99:758,0,714
3 62556622 rs833663 A G 3623.15 PASS AC=2;AF=1.00;AN=2;DB;DP=111;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.8053;MQ=60.0;MQ0=0;QD=32.64;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CADPS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283269 GT:AD:DP:GQ:PL 1/1:0,111:111:99:3623,271,0
3 62571037 rs2659467 G A 761.11 PASS AB=0.574;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.917;DB;DP=61;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=2.722;MQ=60.0;MQ0=0;MQRankSum=0.216;QD=12.48;ReadPosRankSum=0.753;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CADPS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283269 GT:AD:DP:GQ:PL 0/1:35,26:61:99:791,0,1060
3 62611998 rs2600853 C T 124.57 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.696;DB;DP=13;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=58.2;MQ0=0;MQRankSum=-0.437;QD=9.58;ReadPosRankSum=1.092;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CADPS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283269 GT:AD:DP:GQ:PL 0/1:8,5:13:99:155,0,285
3 62612013 rs2248008 C T 685.25 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.71;MQ0=0;QD=38.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CADPS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283269 GT:AD:DP:GQ:PL 1/1:0,18:18:54.17:718,54,0
3 62612145 rs2248013 C A 1893.11 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.42;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CADPS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283269 GT:AD:DP:GQ:PL 1/1:0,55:55:99:1926,141,0
3 62612195 rs2248019 G T 719.18 PASS AB=0.536;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.234;DB;DP=56;Dels=0.0;FS=7.843;HRun=0;HaplotypeScore=1.9891;MQ=59.17;MQ0=0;MQRankSum=1.526;QD=12.84;ReadPosRankSum=0.784;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CADPS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283269 GT:AD:DP:GQ:PL 0/1:30,26:56:99:749,0,939
3 62612280 rs2367310 C T 740.46 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9159;MQ=57.87;MQ0=0;QD=33.66;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CADPS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283269 GT:AD:DP:GQ:PL 1/1:0,22:22:57.18:773,57,0
3 62612294 rs2367311 T C 629.63 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.39;MQ0=0;QD=34.98;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CADPS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283269 GT:AD:DP:GQ:PL 1/1:0,18:18:51.16:663,51,0
3 62612309 rs2367312 G C 455.44 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.62;MQ0=0;QD=32.53;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CADPS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283269 GT:AD:DP:GQ:PL 1/1:0,14:14:36.12:488,36,0
3 62612342 rs2248023 T C 249.17 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=54.65;MQ0=0;QD=27.69;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CADPS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283269 GT:AD:DP:GQ:PL 1/1:0,9:9:21.07:282,21,0
3 62612385 rs1349591 G T 48.77 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=51.77;MQ0=0;QD=16.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CADPS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283269 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:80,6,0
3 62631553 rs4588354 G T 965.18 PASS AB=0.475;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.098;DB;DP=61;Dels=0.0;FS=1.42;HRun=0;HaplotypeScore=0.0;MQ=59.62;MQ0=0;MQRankSum=-0.542;QD=15.82;ReadPosRankSum=-1.249;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CADPS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283269 GT:AD:DP:GQ:PL 0/1:29,32:61:99:995,0,900
3 62636826 rs4688302 C T 1017.60 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=39.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CADPS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283269 GT:AD:DP:GQ:PL 1/1:0,26:26:78.26:1051,78,0
3 62647928 rs6770658 A G 174.31 PASS AB=0.632;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.24;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.395;QD=9.17;ReadPosRankSum=-0.211;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CADPS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283269 GT:AD:DP:GQ:PL 0/1:12,7:19:99:204,0,445
3 62739092 rs478123 A G 1605.79 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9992;MQ=60.0;MQ0=0;QD=33.45;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CADPS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283269 GT:AD:DP:GQ:PL 1/1:0,48:48:99:1639,123,0
3 63320283 rs4688395 T C 295.04 PASS AB=0.353;AC=1;AF=0.50;AN=2;BaseQRankSum=3.266;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.23;MQ0=0;MQRankSum=1.156;QD=17.36;ReadPosRankSum=-0.352;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SYNPR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478300 GT:AD:DP:GQ:PL 0/1:6,11:17:99:325,0,189
3 63320314 rs4234675 T G 944.85 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;QD=28.63;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SYNPR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478300 GT:AD:DP:GQ:PL 1/1:0,32:33:84.22:978,84,0
3 63320504 rs34979712 CT C 1143.33 PASS AB=0.63;AC=1;AF=0.50;AN=2;BaseQRankSum=6.261;DB;DP=63;FS=2.133;HRun=3;HaplotypeScore=154.4667;IndelType=D;MQ=60.15;MQ0=0;MQRankSum=0.593;QD=18.15;ReadPosRankSum=1.403;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SYNPR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478300 GT:AD:DP:GQ:PL 0/1:26,37:63:99:1182,0,913
3 63320804 rs6772709 G A 89.85 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.95;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SYNPR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478300 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:122,9,0
3 63320819 rs6772716 G A 49.99 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SYNPR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478300 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
3 63816661 . A ATTGT 711.98 PASS AB=0.565;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.113;DP=13;FS=0.0;HRun=0;HaplotypeScore=40.287;IndelType=I;MQ=53.4;MQ0=0;MQRankSum=-1.099;QD=54.77;ReadPosRankSum=-1.606;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=THOC7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295899 GT:AD:DP:GQ:PL 0/1:3,10:13:99:751,0,127
3 63817430 rs2291533 G C 1324.50 PASS AB=0.539;AC=1;AF=0.50;AN=2;BaseQRankSum=0.926;DB;DP=102;Dels=0.0;FS=0.785;HRun=0;HaplotypeScore=0.9665;MQ=59.82;MQ0=0;MQRankSum=-0.732;QD=12.99;ReadPosRankSum=-0.443;SNPEFF_AMINO_ACID_CHANGE=Q253H;SNPEFF_CODON_CHANGE=caG/caC;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_63817356_63817520;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf49;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000295896 GT:AD:DP:GQ:PL 0/1:55,47:102:99:1354,0,1732
3 63821914 rs2637982 C G 1577.04 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.734;MQ=59.48;MQ0=0;QD=35.84;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf49;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491896 GT:AD:DP:GQ:PL 1/1:0,44:44:99:1610,123,0
3 63825060 rs2637981 C T 92.07 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.69;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf49;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295896 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:124,9,0
3 63825249 rs138554894 TTTGA T 689.26 PASS AB=0.725;AC=1;AF=0.50;AN=2;BaseQRankSum=4.223;DB;DP=37;FS=0.0;HRun=0;HaplotypeScore=174.48;IndelType=D;MQ=60.26;MQ0=0;MQRankSum=1.346;QD=18.63;ReadPosRankSum=0.201;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf49;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295896 GT:AD:DP:GQ:PL 0/1:23,14:37:99:728,0,1719
3 63825640 rs2678352 T C 186.37 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.572;DB;DP=8;Dels=0.0;FS=6.021;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.067;QD=23.3;ReadPosRankSum=-1.067;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf49;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295896 GT:AD:DP:GQ:PL 0/1:2,6:8:59.91:216,0,60
3 63967900 rs1053338 A G 1132.49 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=0.92;DB;DP=70;Dels=0.0;FS=8.347;HRun=0;HaplotypeScore=0.5784;MQ=59.64;MQ0=0;MQRankSum=0.398;QD=16.18;ReadPosRankSum=-0.172;SNPEFF_AMINO_ACID_CHANGE=K119R;SNPEFF_CODON_CHANGE=aAa/aGa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_63967862_63968121;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATXN7;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000484332 GT:AD:DP:GQ:PL 0/1:30,40:70:99:1162,0,933
3 63976145 rs2241821 G A 172.13 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.259;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.517;QD=14.34;ReadPosRankSum=1.718;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATXN7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466529 GT:AD:DP:GQ:PL 0/1:6,6:12:99:202,0,209
3 63981635 rs3733125 C T 591.14 PASS AB=0.488;AC=1;AF=0.50;AN=2;BaseQRankSum=0.641;DB;DP=43;Dels=0.0;FS=1.239;HRun=1;HaplotypeScore=2.0641;MQ=59.03;MQ0=0;MQRankSum=0.876;QD=13.75;ReadPosRankSum=-0.954;SNPEFF_AMINO_ACID_CHANGE=L568;SNPEFF_CODON_CHANGE=Ctg/Ttg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_63981181_63982159;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATXN7;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000484332 GT:AD:DP:GQ:PL 0/1:21,22:43:99:621,0,583
3 63982082 rs3774729 G A 3981.90 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.671;DB;DP=118;Dels=0.0;FS=3.81;HRun=0;HaplotypeScore=1.9755;MQ=59.61;MQ0=0;MQRankSum=-0.122;QD=33.74;ReadPosRankSum=1.216;SNPEFF_AMINO_ACID_CHANGE=V33M;SNPEFF_CODON_CHANGE=Gtg/Atg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_63981986_63982159;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATXN7;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000522345 GT:AD:DP:GQ:PL 1/1:1,116:118:99:3982,264,0
3 63999322 rs3816157 G A 237.64 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.398;DB;DP=24;Dels=0.0;FS=2.706;HRun=0;HaplotypeScore=0.0;MQ=59.03;MQ0=0;MQRankSum=0.398;QD=9.9;ReadPosRankSum=0.888;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSMD6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000497315 GT:AD:DP:GQ:PL 0/1:16,8:24:99:268,0,516
3 64004409 rs11376250 C CA 270.33 PASS AB=0.722;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.416;DB;DP=26;FS=1.76;HRun=8;HaplotypeScore=56.6797;IndelType=I;MQ=60.0;MQ0=0;MQRankSum=0.4;QD=10.4;ReadPosRankSum=-0.277;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSMD6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478185 GT:AD:DP:GQ:PL 0/1:16,10:26:99:309,0,260
3 64004819 rs2578011 C T 285.38 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.038;DB;DP=20;Dels=0.0;FS=4.32;HRun=0;HaplotypeScore=0.6651;MQ=58.84;MQ0=0;MQRankSum=0.113;QD=14.27;ReadPosRankSum=-2.23;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSMD6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478185 GT:AD:DP:GQ:PL 0/1:10,10:20:99:315,0,317
3 64005226 rs2888013 A G 30.58 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.72;QD=5.1;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSMD6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295901 GT:AD:DP:GQ:PL 0/1:4,2:6:60.57:61,0,144
3 64009432 rs28372804 AT A 463.37 PASS AB=0.591;AC=1;AF=0.50;AN=2;BaseQRankSum=1.972;DB;DP=26;FS=1.657;HRun=6;HaplotypeScore=68.5868;IndelType=D;MQ=59.11;MQ0=0;MQRankSum=-0.528;QD=17.82;ReadPosRankSum=-0.361;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSMD6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000394431 GT:AD:DP:GQ:PL 0/1:8,18:26:99:502,0,238
3 64009508 rs40610 T C 165.45 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.27;DB;DP=16;Dels=0.0;FS=6.726;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.423;QD=10.34;ReadPosRankSum=-0.318;SNPEFF_AMINO_ACID_CHANGE=N2D;SNPEFF_CODON_CHANGE=Aat/Gat;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_64009481_64009658;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PSMD6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000394431 GT:AD:DP:GQ:PL 0/1:9,7:16:99:195,0,221
3 64072571 rs7636957 C G 1352.18 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8321;MQ=59.46;MQ0=0;QD=31.45;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=antisense;SNPEFF_GENE_NAME=RP11-129B22.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000482609 GT:AD:DP:GQ:PL 1/1:0,43:43:99:1385,102,0
3 64072820 rs254856 T C 1455.18 PASS AB=0.397;AC=1;AF=0.50;AN=2;BaseQRankSum=3.682;DB;DP=78;Dels=0.0;FS=2.627;HRun=0;HaplotypeScore=0.734;MQ=59.41;MQ0=0;MQRankSum=-1.036;QD=18.66;ReadPosRankSum=-0.367;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=antisense;SNPEFF_GENE_NAME=RP11-129B22.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000482609 GT:AD:DP:GQ:PL 0/1:31,47:78:99:1485,0,946
3 64133350 rs27673 A G 1806.15 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.3123;MQ=59.58;MQ0=0;QD=32.84;SNPEFF_AMINO_ACID_CHANGE=D272;SNPEFF_CODON_CHANGE=gaT/gaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_64132506_64133378;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRICKLE2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000295902 GT:AD:DP:GQ:PL 1/1:0,55:55:99:1839,135,0
3 64138716 rs35843 A G 1016.40 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.88;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRICKLE2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000498162 GT:AD:DP:GQ:PL 1/1:0,30:30:90.26:1049,90,0
3 64142859 rs17720698 C T 361.94 PASS AB=0.464;AC=1;AF=0.50;AN=2;BaseQRankSum=0.9;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.3337;MQ=59.17;MQ0=0;MQRankSum=-0.643;QD=12.93;ReadPosRankSum=0.694;SNPEFF_AMINO_ACID_CHANGE=P193;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_64142838_64143041;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRICKLE2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000295902 GT:AD:DP:GQ:PL 0/1:13,15:28:99:392,0,341
3 64145493 rs11720610 G A 636.17 PASS AB=0.208;AC=1;AF=0.50;AN=2;BaseQRankSum=2.985;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.03;MQ0=0;MQRankSum=-0.284;QD=26.51;ReadPosRankSum=-0.853;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRICKLE2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295902 GT:AD:DP:GQ:PL 0/1:5,19:24:99:666,0,113
3 64145510 rs76720468 G A 779.22 PASS AB=0.235;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.172;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.32;MQ0=0;MQRankSum=-2.456;QD=22.92;ReadPosRankSum=0.061;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRICKLE2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295902 GT:AD:DP:GQ:PL 0/1:8,26:34:99:809,0,238
3 64145759 rs2306380 T C 1151.49 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=3.08;DB;DP=70;Dels=0.0;FS=3.541;HRun=0;HaplotypeScore=3.6408;MQ=59.67;MQ0=0;MQRankSum=0.303;QD=16.45;ReadPosRankSum=0.374;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRICKLE2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295902 GT:AD:DP:GQ:PL 0/1:30,40:70:99:1181,0,829
3 64145913 rs26942 T A 75.87 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.727;QD=18.97;ReadPosRankSum=-0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRICKLE2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295902 GT:AD:DP:GQ:PL 0/1:1,3:4:29.72:106,0,30
3 64184343 rs696016 C T 239 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.158;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9983;MQ=58.55;MQ0=0;MQRankSum=-0.683;QD=14.94;ReadPosRankSum=0.473;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRICKLE2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295902 GT:AD:DP:GQ:PL 0/1:8,8:16:99:269,0,282
3 64184397 rs696017 G T 358.96 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.723;DB;DP=30;Dels=0.0;FS=1.494;HRun=0;HaplotypeScore=0.7887;MQ=59.23;MQ0=0;MQRankSum=-0.062;QD=11.97;ReadPosRankSum=-0.27;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRICKLE2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295902 GT:AD:DP:GQ:PL 0/1:16,14:30:99:389,0,505
3 64518994 rs1017537 T C 1047.26 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.39;MQ0=0;QD=36.11;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ADAMTS9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295903 GT:AD:DP:GQ:PL 1/1:0,29:29:84.27:1080,84,0
3 64519156 rs11717554 C T 45.77 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.89;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ADAMTS9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295903 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:77,6,0
3 64525171 rs11130968 G A 49.99 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ADAMTS9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295903 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
3 64525177 rs11130969 C T 49.99 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ADAMTS9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295903 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
3 64526610 rs11130970 G A 117.37 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=50.45;MQ0=0;QD=29.34;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ADAMTS9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295903 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:150,12,0
3 64526651 rs3841969 CCAATGTG C 348.16 PASS AC=2;AF=1.00;AN=2;DB;DP=7;FS=0.0;HRun=0;HaplotypeScore=76.7471;IndelType=D;MQ=48.94;MQ0=0;QD=49.74;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ADAMTS9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295903 GT:AD:DP:GQ:PL 1/1:1,6:7:18.06:390,18,0
3 64526717 rs3796384 G C 584.82 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.76;MQ0=0;QD=36.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ADAMTS9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295903 GT:AD:DP:GQ:PL 1/1:0,16:16:45.15:618,45,0
3 64526942 rs3796383 A C 3152.78 PASS AC=2;AF=1.00;AN=2;DB;DP=100;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.5449;MQ=59.54;MQ0=0;QD=31.53;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ADAMTS9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295903 GT:AD:DP:GQ:PL 1/1:0,100:100:99:3186,244,0
3 64527321 rs1373163 T C 1916.76 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9973;MQ=59.55;MQ0=0;QD=37.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ADAMTS9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295903 GT:AD:DP:GQ:PL 1/1:0,50:51:99:1950,147,0
3 64527336 rs1036919 C T 1617.32 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9957;MQ=59.05;MQ0=0;QD=36.76;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ADAMTS9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295903 GT:AD:DP:GQ:PL 1/1:0,44:44:99:1650,123,0
3 64527378 rs1036918 G A 1264.63 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=58.76;MQ0=0;QD=37.2;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ADAMTS9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295903 GT:AD:DP:GQ:PL 1/1:0,34:34:99:1298,99,0
3 64527465 rs1036917 C T 1937.99 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.6553;MQ=60.0;MQ0=0;QD=36.57;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ADAMTS9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295903 GT:AD:DP:GQ:PL 1/1:0,53:53:99:1971,144,0
3 64527835 rs11706020 G T 44.66 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=14.89;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ADAMTS9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295903 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:76,6,0
3 64532254 rs9311895 A G 36.51 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=12.17;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ADAMTS9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000482490 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:68,6,0
3 64554254 rs7635677 T C 427.92 PASS AB=0.575;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.164;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.082;QD=10.7;ReadPosRankSum=1.532;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ADAMTS9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295903 GT:AD:DP:GQ:PL 0/1:23,17:40:99:458,0,755
3 64580169 rs13320542 C T 459.41 PASS AB=0.595;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.846;DB;DP=42;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=59.45;MQ0=0;MQRankSum=2.024;QD=10.94;ReadPosRankSum=1.435;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ADAMTS9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295903 GT:AD:DP:GQ:PL 0/1:25,17:42:99:489,0,846
3 64589532 . G A 791.17 PASS AB=0.585;AC=1;AF=0.50;AN=2;BaseQRankSum=2.375;DP=83;Dels=0.0;FS=2.211;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.547;QD=9.53;ReadPosRankSum=-0.704;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ADAMTS9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295903 GT:AD:DP:GQ:PL 0/1:48,34:83:99:821,0,1257
3 64589851 rs9985304 A G 270.96 PASS AB=0.476;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.584;DB;DP=21;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.77;MQ0=0;MQRankSum=0.246;QD=12.9;ReadPosRankSum=-1.091;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ADAMTS9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295903 GT:AD:DP:GQ:PL 0/1:10,11:21:99:301,0,351
3 64600829 rs56869336 C T 199.22 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.209;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.652;QD=13.28;ReadPosRankSum=0.652;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ADAMTS9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295903 GT:AD:DP:GQ:PL 0/1:7,8:15:99:229,0,232
3 64601550 rs4589926 T C 713.17 PASS AB=0.442;AC=1;AF=0.50;AN=2;BaseQRankSum=0.126;DB;DP=43;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.46;MQ0=0;MQRankSum=1.137;QD=16.59;ReadPosRankSum=0.152;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ADAMTS9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295903 GT:AD:DP:GQ:PL 0/1:19,24:43:99:743,0,623
3 64617042 rs6768487 G C 424.43 PASS AB=0.435;AC=1;AF=0.50;AN=2;BaseQRankSum=3.07;DB;DP=23;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.99;MQ0=0;MQRankSum=1.457;QD=18.45;ReadPosRankSum=-0.713;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ADAMTS9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295903 GT:AD:DP:GQ:PL 0/1:10,13:23:99:454,0,331
3 64617070 rs6445420 C T 456.99 PASS AB=0.452;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.553;DB;DP=31;Dels=0.0;FS=2.393;HRun=0;HaplotypeScore=0.8667;MQ=59.25;MQ0=0;MQRankSum=-0.139;QD=14.74;ReadPosRankSum=-0.456;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ADAMTS9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295903 GT:AD:DP:GQ:PL 0/1:14,17:31:99:487,0,415
3 64617699 rs7640062 A G 151.27 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=1.683;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.203;QD=16.81;ReadPosRankSum=0.248;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ADAMTS9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295903 GT:AD:DP:GQ:PL 0/1:3,6:9:95.04:181,0,95
3 64619048 rs11717158 C T 831.78 PASS AB=0.54;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.614;DB;DP=63;Dels=0.0;FS=7.135;HRun=0;HaplotypeScore=1.8319;MQ=60.0;MQ0=0;MQRankSum=-0.355;QD=13.2;ReadPosRankSum=0.716;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ADAMTS9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295903 GT:AD:DP:GQ:PL 0/1:34,29:63:99:862,0,1034
3 64640206 rs67158962 TA T 3762.76 PASS AC=2;AF=1.00;AN=2;DB;DP=112;FS=0.0;HRun=4;HaplotypeScore=324.3288;IndelType=D;MQ=60.26;MQ0=0;QD=33.6;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ADAMTS9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295903 GT:AD:DP:GQ:PL 1/1:5,107:112:99:3763,316,0
3 64667059 rs73124286 G T 429.18 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.75;MQ0=0;QD=28.61;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ADAMTS9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295903 GT:AD:DP:GQ:PL 1/1:0,15:15:36.10:462,36,0
3 65361203 rs13321366 C G 93.72 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.24;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAGI1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468159 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:126,9,0
3 65361383 rs3836224 A AAG 809.05 PASS AB=0.71;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.169;DB;DP=49;FS=0.0;HRun=0;HaplotypeScore=150.4788;IndelType=I;MQ=61.1;MQ0=0;MQRankSum=0.465;QD=16.51;ReadPosRankSum=0.042;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAGI1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468159 GT:AD:DP:GQ:PL 0/1:29,20:49:99:848,0,514
3 65372945 rs75360857 C A 409.13 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.274;DB;DP=30;Dels=0.0;FS=2.139;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-2.274;QD=13.64;ReadPosRankSum=-1.355;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAGI1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000330909 GT:AD:DP:GQ:PL 0/1:16,14:30:99:439,0,487
3 65415157 rs147479871 TA T 266.64 PASS AB=0.709;AC=1;AF=0.50;AN=2;BaseQRankSum=4.675;DB;DP=39;FS=6.855;HRun=10;HaplotypeScore=95.4363;IndelType=D;MQ=60.0;MQ0=0;MQRankSum=0.291;QD=6.84;ReadPosRankSum=-0.046;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAGI1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470990 GT:AD:DP:GQ:PL 0/1:23,16:39:99:306,0,577
3 65416648 rs4688566 C A 218.58 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.23;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAGI1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000330909 GT:AD:DP:GQ:PL 1/1:0,7:7:18.06:251,18,0
3 65425168 rs7639549 G A 50.63 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAGI1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000330909 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
3 65425280 rs4618170 A G 296.33 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.93;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAGI1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000330909 GT:AD:DP:GQ:PL 1/1:0,9:9:27.06:329,27,0
3 65425393 rs6445477 T C 1622.66 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.54;MQ0=0;QD=32.45;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAGI1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000330909 GT:AD:DP:GQ:PL 1/1:0,50:50:99:1656,123,0
3 65433406 rs6768607 T C 39.17 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=49.84;MQ0=0;QD=19.59;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAGI1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464060 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:70,6,0
3 65433434 rs6779957 A G 37.45 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=49.84;MQ0=0;QD=18.72;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAGI1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464060 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:69,6,0
3 65456198 rs57455654 G GA 187.17 PASS AB=0.786;AC=1;AF=0.50;AN=2;BaseQRankSum=0.215;DB;DP=33;FS=0.0;HRun=12;HaplotypeScore=219.8984;IndelType=I;MQ=58.39;MQ0=0;MQRankSum=0.769;QD=5.67;ReadPosRankSum=-1.693;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAGI1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000330909 GT:AD:DP:GQ:PL 0/1:23,9:33:99:226,0,179
3 65464522 rs11409972 G GT 96.89 PASS AB=0.688;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.45;DB;DP=11;FS=0.0;HRun=9;HaplotypeScore=22.0475;IndelType=I;MQ=60.98;MQ0=0;MQRankSum=0.103;QD=8.81;ReadPosRankSum=-1.268;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAGI1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000330909 GT:AD:DP:GQ:PL 0/1:6,5:11:99:136,0,100
3 65464625 rs7636096 G A 68.95 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.98;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAGI1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000330909 GT:AD:DP:GQ:PL 1/1:0,3:3:9:101,9,0
3 65479068 rs7641222 A C 376.08 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.328;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.71;MQ0=0;MQRankSum=0.234;QD=20.89;ReadPosRankSum=-0.421;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAGI1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000330909 GT:AD:DP:GQ:PL 0/1:6,12:18:99:406,0,185
3 65583600 rs57059846 TGG T 102.01 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.365;DB;DP=12;FS=0.0;HRun=10;HaplotypeScore=58.3069;IndelType=D;MQ=58.43;MQ0=0;MQRankSum=1.133;QD=8.5;ReadPosRankSum=1.133;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAGI1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000330909 GT:AD:DP:GQ:PL 0/1:6,6:12:99:141,0,140
3 65607592 rs112243102 T TCA 337.65 PASS AB=0.679;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.474;DB;DP=19;FS=0.0;HRun=0;HaplotypeScore=126.5877;IndelType=I;MQ=55.49;MQ0=0;MQRankSum=-1.107;QD=17.77;ReadPosRankSum=0.158;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAGI1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000330909 GT:AD:DP:GQ:PL 0/1:10,8:19:1.94:375,0,2
3 65607637 rs3749455 A G 553.47 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.91;MQ0=0;QD=24.06;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAGI1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000330909 GT:AD:DP:GQ:PL 1/1:0,23:23:51.13:586,51,0
3 66023592 rs28696109 A G 436.21 PASS AB=0.457;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.586;DB;DP=35;Dels=0.0;FS=1.884;HRun=2;HaplotypeScore=1.7653;MQ=58.67;MQ0=0;MQRankSum=1.606;QD=12.46;ReadPosRankSum=0.414;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAGI1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000330909 GT:AD:DP:GQ:PL 0/1:16,19:35:99:466,0,523
3 66293766 rs66918103 T C 2064.66 PASS AB=0.419;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.03;DB;DP=124;Dels=0.0;FS=2.36;HRun=1;HaplotypeScore=5.1031;MQ=59.17;MQ0=0;MQRankSum=0.363;QD=16.65;ReadPosRankSum=0.317;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC25A26;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336733 GT:AD:DP:GQ:PL 0/1:52,72:124:99:2095,0,1796
3 66293851 rs1678092 T C 165.28 PASS AB=0.588;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.464;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9979;MQ=60.0;MQ0=0;MQRankSum=0.927;QD=9.72;ReadPosRankSum=2.001;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC25A26;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336733 GT:AD:DP:GQ:PL 0/1:10,7:17:99:195,0,366
3 66419942 rs1129179 A G 79.67 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.633;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=59.03;MQ0=0;MQRankSum=-0.567;QD=3.32;ReadPosRankSum=0.633;SNPEFF_AMINO_ACID_CHANGE=A115;SNPEFF_CODON_CHANGE=gcA/gcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_66419902_66419966;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC25A26;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000336733 GT:AD:DP:GQ:PL 0/1:18,6:24:99:110,0,637
3 66419956 rs13874 C T 101.68 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=1.833;DB;DP=24;Dels=0.0;FS=1.875;HRun=0;HaplotypeScore=0.0;MQ=59.03;MQ0=0;MQRankSum=-0.433;QD=4.24;ReadPosRankSum=-0.033;SNPEFF_AMINO_ACID_CHANGE=T120M;SNPEFF_CODON_CHANGE=aCg/aTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_66419902_66419966;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC25A26;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000336733 GT:AD:DP:GQ:PL 0/1:18,6:24:99:132,0,617
3 66421147 rs332378 T C 33.17 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.231;QD=6.63;ReadPosRankSum=-1.231;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC25A26;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484768 GT:AD:DP:GQ:PL 0/1:3,2:5:63.16:63,0,111
3 66427885 rs231276 A G 64.17 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.358;QD=12.83;ReadPosRankSum=-0.358;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRIG1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273261 GT:AD:DP:GQ:PL 0/1:2,3:5:67.94:94,0,68
3 66428282 rs1046844 C T 843.30 PASS AB=0.532;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.788;DB;DP=62;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.5647;MQ=59.63;MQ0=0;MQRankSum=0.49;QD=13.6;ReadPosRankSum=1.902;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRIG1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273261 GT:AD:DP:GQ:PL 0/1:33,29:62:99:873,0,1061
3 66430811 rs2279290 T G 1086.64 PASS AB=0.488;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.149;DB;DP=80;Dels=0.0;FS=1.94;HRun=3;HaplotypeScore=1.8924;MQ=60.0;MQ0=0;MQRankSum=0.77;QD=13.58;ReadPosRankSum=1.752;SNPEFF_AMINO_ACID_CHANGE=Q1030P;SNPEFF_CODON_CHANGE=cAg/cCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_66429221_66430913;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRIG1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000383703 GT:AD:DP:GQ:PL 0/1:39,41:80:99:1117,0,1183
3 66432276 rs2242284 A G 44.44 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=14.81;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC25A26;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336733 GT:AD:DP:GQ:PL 0/1:1,2:3:33.62:74,0,34
3 66432680 rs332371 A G 1292.65 PASS AB=0.51;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.075;DB;DP=100;Dels=0.0;FS=3.772;HRun=1;HaplotypeScore=1.6553;MQ=59.31;MQ0=0;MQRankSum=0.639;QD=12.93;ReadPosRankSum=1.527;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC25A26;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336733 GT:AD:DP:GQ:PL 0/1:51,49:100:99:1323,0,1457
3 66433176 rs1809444 T A 52.28 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.14;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC25A26;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336733 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
3 66433676 rs900171 A G 222.78 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=0.033;DB;DP=22;Dels=0.0;FS=1.768;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.099;QD=10.13;ReadPosRankSum=-1.22;SNPEFF_AMINO_ACID_CHANGE=L644;SNPEFF_CODON_CHANGE=Ttg/Ctg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_66433406_66433825;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRIG1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000383702 GT:AD:DP:GQ:PL 0/1:12,10:22:99:253,0,420
3 66436891 rs13063913 T C 61.57 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=55.21;MQ0=0;MQRankSum=0.358;QD=12.31;ReadPosRankSum=1.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRIG1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273261 GT:AD:DP:GQ:PL 0/1:2,3:5:59.62:92,0,60
3 66444615 rs6793110 G A 299.37 PASS AB=0.083;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.738;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.159;QD=24.95;ReadPosRankSum=-0.29;SNPEFF_AMINO_ACID_CHANGE=S342;SNPEFF_CODON_CHANGE=agC/agT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_66444464_66444627;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRIG1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000383702 GT:AD:DP:GQ:PL 0/1:1,11:12:12.13:329,0,12
3 66455797 rs3796148 T C 92.37 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=55.21;MQ0=0;MQRankSum=0.731;QD=18.47;ReadPosRankSum=0.731;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRIG1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491821 GT:AD:DP:GQ:PL 0/1:1,4:5:21.09:122,0,21
3 66463251 rs4856924 G A 295.59 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.63;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRIG1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475366 GT:AD:DP:GQ:PL 1/1:0,12:12:27.05:329,27,0
3 66465176 . A G 177.85 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=1.408;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.7887;MQ=57.87;MQ0=0;MQRankSum=-1.031;QD=16.17;ReadPosRankSum=0.387;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRIG1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475366 GT:AD:DP:GQ:PL 0/1:5,6:11:99:208,0,169
3 66465259 rs4856928 T C 624.46 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=1.703;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9983;MQ=59.36;MQ0=0;MQRankSum=-0.462;QD=17.35;ReadPosRankSum=0.875;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRIG1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475366 GT:AD:DP:GQ:PL 0/1:16,20:36:99:654,0,422
3 66467365 rs6786813 G A 109.38 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=2.219;DB;DP=9;Dels=0.0;FS=3.522;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.361;QD=12.15;ReadPosRankSum=-0.729;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRIG1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273261 GT:AD:DP:GQ:PL 0/1:5,4:9:99:139,0,144
3 66550756 rs1403625 G C 170.22 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.04;SNPEFF_AMINO_ACID_CHANGE=L26V;SNPEFF_CODON_CHANGE=Ctt/Gtt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_66550614_66551356;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRIG1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000273261 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:203,15,0
3 66550762 rs1403626 G C 159.93 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.65;SNPEFF_AMINO_ACID_CHANGE=L24V;SNPEFF_CODON_CHANGE=Ctt/Gtt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_66550614_66551356;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRIG1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000273261 GT:AD:DP:GQ:PL 1/1:0,6:6:15.04:193,15,0
3 67425983 rs1065400 C T 143.10 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=0.689;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.96;MQ0=0;MQRankSum=-0.38;QD=11.93;ReadPosRankSum=0.135;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SUCLG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000493112 GT:AD:DP:GQ:PL 0/1:7,5:12:99:173,0,245
3 67426125 rs1065399 C T 849.82 PASS AB=0.548;AC=1;AF=0.50;AN=2;BaseQRankSum=0.983;DB;DP=62;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9894;MQ=59.8;MQ0=0;MQRankSum=-1.747;QD=13.71;ReadPosRankSum=-0.941;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SUCLG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000493112 GT:AD:DP:GQ:PL 0/1:34,28:62:99:880,0,1074
3 67451037 rs68010988 A G 171.17 PASS AB=0.579;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.518;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.78;MQ0=0;MQRankSum=-0.124;QD=9.01;ReadPosRankSum=0.124;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SUCLG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307227 GT:AD:DP:GQ:PL 0/1:11,8:19:99:201,0,353
3 67548852 rs7630024 G A 162.36 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.47;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SUCLG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307227 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:195,15,0
3 68194293 rs1595493 G A 4013.49 PASS AC=2;AF=1.00;AN=2;DB;DP=112;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.6208;MQ=59.59;MQ0=0;QD=35.83;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM19A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478136 GT:AD:DP:GQ:PL 1/1:0,112:112:99:4013,292,0
3 68606548 rs7616164 G T 480.76 PASS AB=0.591;AC=1;AF=0.50;AN=2;BaseQRankSum=2.614;DB;DP=44;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.7323;MQ=59.48;MQ0=0;MQRankSum=-0.227;QD=10.93;ReadPosRankSum=1.826;SNPEFF_EFFECT=INTERGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 0/1:26,18:44:99:511,0,833
3 68606690 rs9837106 T A 68.61 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.937;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.28;MQ0=0;MQRankSum=0.937;QD=9.8;ReadPosRankSum=-0.55;SNPEFF_EFFECT=INTERGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 0/1:4,3:7:98.60:99,0,144
3 68683849 rs62246092 A C 437.91 PASS AB=0.553;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.406;DB;DP=38;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.292;QD=11.52;ReadPosRankSum=0.382;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AC096922.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000390806 GT:AD:DP:GQ:PL 0/1:21,17:38:99:468,0,732
3 68684050 rs9867648 A G 1230.27 PASS AB=0.562;AC=1;AF=0.50;AN=2;BaseQRankSum=2.292;DB;DP=89;Dels=0.0;FS=0.842;HRun=0;HaplotypeScore=0.0;MQ=59.74;MQ0=0;MQRankSum=0.115;QD=13.82;ReadPosRankSum=-0.218;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AC096922.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000390806 GT:AD:DP:GQ:PL 0/1:50,39:89:99:1260,0,1669
3 68686222 rs3860535 G A 68.38 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=18.53;MQ0=4;QD=8.55;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AC096922.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000390806 GT:AD:DP:GQ:PL 1/1:0,8:8:9.02:100,9,0
3 68782213 rs6549143 A G 1167.16 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.35;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM19A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295569 GT:AD:DP:GQ:PL 1/1:0,35:35:90.28:1200,90,0
3 68787954 rs7626497 C T 86.24 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=53.44;MQ0=0;QD=28.75;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM19A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295569 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:118,9,0
3 68788363 rs1504301 G T 2729.63 PASS AC=2;AF=1.00;AN=2;DB;DP=80;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.48;MQ0=0;QD=34.12;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM19A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295569 GT:AD:DP:GQ:PL 1/1:0,80:80:99:2763,202,0
3 68788465 rs1504300 G T 631.48 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.9;MQ0=0;QD=37.15;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM19A4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295569 GT:AD:DP:GQ:PL 1/1:0,17:17:48.16:664,48,0
3 69025792 rs71618257 C CGTGTGT 546.20 PASS AC=2;AF=1.00;AN=2;DB;DP=14;FS=0.0;HRun=0;HaplotypeScore=79.6515;IndelType=I;MQ=52.9;MQ0=0;QD=39.01;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf64;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000403140 GT:AD:DP:GQ:PL 1/1:5,9:14:27.08:588,27,0
3 69036524 rs11350720 GA G 40.48 PASS AB=0.688;AC=1;AF=0.50;AN=2;BaseQRankSum=0.47;DB;DP=11;FS=0.0;HRun=13;HaplotypeScore=67.8882;IndelType=D;MQ=57.87;MQ0=0;MQRankSum=-0.47;QD=3.68;ReadPosRankSum=0.47;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf64;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295571 GT:AD:DP:GQ:PL 0/1:6,5:11:79.51:80,0,116
3 69036678 rs4855540 G C 52.64 PASS AB=0.824;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.441;DB;DP=17;Dels=0.0;FS=2.667;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.441;QD=3.1;ReadPosRankSum=-0.315;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf64;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295571 GT:AD:DP:GQ:PL 0/1:14,3:17:82.64:83,0,417
3 69036707 rs4855542 G A 329.68 PASS AB=0.154;AC=1;AF=0.50;AN=2;BaseQRankSum=0.752;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.107;QD=25.36;ReadPosRankSum=0.322;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf64;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295571 GT:AD:DP:GQ:PL 0/1:2,11:13:47.87:360,0,48
3 69037633 rs9310136 G C 247.25 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.298;DB;DP=24;Dels=0.0;FS=9.791;HRun=1;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=0.656;QD=10.3;ReadPosRankSum=0.298;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf64;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295571 GT:AD:DP:GQ:PL 0/1:15,9:24:99:277,0,502
3 69038217 rs4855543 A G 662.35 PASS AB=0.424;AC=1;AF=0.50;AN=2;BaseQRankSum=0.237;DB;DP=33;Dels=0.0;FS=3.724;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.419;QD=20.07;ReadPosRankSum=1.402;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf64;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295571 GT:AD:DP:GQ:PL 0/1:14,19:33:99:692,0,485
3 69047141 rs4855544 G A 334.73 PASS AB=0.645;AC=1;AF=0.50;AN=2;BaseQRankSum=1.764;DB;DP=31;Dels=0.0;FS=2.062;HRun=0;HaplotypeScore=0.9997;MQ=60.0;MQ0=0;MQRankSum=-0.301;QD=10.8;ReadPosRankSum=2.152;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf64;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295571 GT:AD:DP:GQ:PL 0/1:20,11:31:99:365,0,554
3 69053447 rs9860095 A T 277.82 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.177;DB;DP=15;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.648;QD=18.52;ReadPosRankSum=-1.002;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf64;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000424374 GT:AD:DP:GQ:PL 0/1:6,9:15:99:308,0,206
3 69054266 rs11417320 A AT 497.63 PASS AB=0.698;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.695;DB;DP=37;FS=7.084;HRun=1;HaplotypeScore=187.3436;IndelType=I;MQ=56.15;MQ0=0;MQRankSum=-0.258;QD=13.45;ReadPosRankSum=-0.615;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf64;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000424374 GT:AD:DP:GQ:PL 0/1:21,15:37:99:537,0,569
3 69054341 rs6781612 T C 920.01 PASS AB=0.419;AC=1;AF=0.50;AN=2;BaseQRankSum=0.795;DB;DP=62;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.73;MQ0=0;MQRankSum=1.043;QD=14.84;ReadPosRankSum=0.693;SNPEFF_AMINO_ACID_CHANGE=R155;SNPEFF_CODON_CHANGE=agA/agG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_69054291_69054385;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf64;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000295571 GT:AD:DP:GQ:PL 0/1:26,36:62:99:950,0,757
3 69058783 rs56761230 C T 201.55 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.155;DB;DP=20;Dels=0.0;FS=2.199;HRun=0;HaplotypeScore=0.8667;MQ=58.84;MQ0=0;MQRankSum=-0.887;QD=10.08;ReadPosRankSum=0.549;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf64;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295571 GT:AD:DP:GQ:PL 0/1:12,8:20:99:232,0,369
3 69059087 rs111531881 A C 47 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.751;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=7.7321;MQ=51.77;MQ0=0;MQRankSum=0.751;QD=3.92;ReadPosRankSum=0.751;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf64;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295571 GT:AD:DP:GQ:PL 1/1:4,8:12:9:79,9,0
3 69073410 rs3772976 G A 214.43 HaplotypeScoreFilter13 AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=0.46;DB;DP=48;Dels=0.0;FS=2.418;HRun=0;HaplotypeScore=19.4167;MQ=56.28;MQ0=0;MQRankSum=-0.163;QD=4.47;ReadPosRankSum=-0.135;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000489370 GT:AD:DP:GQ:PL 0/1:25,20:48:99:244,0,441
3 69073419 . GTT G 82.41 PASS AB=0.769;AC=1;AF=0.50;AN=2;BaseQRankSum=1.089;DP=40;FS=0.0;HRun=16;HaplotypeScore=287.7699;IndelType=D;MQ=54.88;MQ0=0;MQRankSum=0.876;QD=2.06;ReadPosRankSum=0.558;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000489370 GT:AD:DP:GQ:PL 0/1:22,7:40:99:121,0,441
3 69082657 rs937859 T C 1124.84 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.3;MQ0=0;QD=34.09;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356248 GT:AD:DP:GQ:PL 1/1:0,33:33:87.26:1158,87,0
3 69082873 rs937858 G T 789.37 PASS AB=0.432;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.736;DB;DP=44;Dels=0.0;FS=10.636;HRun=1;HaplotypeScore=0.0;MQ=59.48;MQ0=0;MQRankSum=0.16;QD=17.94;ReadPosRankSum=0.037;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356248 GT:AD:DP:GQ:PL 0/1:19,25:44:99:819,0,489
3 69084062 rs2055685 G C 283.07 PASS AB=0.694;AC=1;AF=0.50;AN=2;BaseQRankSum=0.137;DB;DP=37;Dels=0.0;FS=5.027;HRun=0;HaplotypeScore=2.6205;MQ=59.38;MQ0=0;MQRankSum=0.137;QD=7.65;ReadPosRankSum=0.103;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356248 GT:AD:DP:GQ:PL 0/1:25,11:37:99:313,0,881
3 69084161 rs2271121 C A 1500.74 PASS AB=0.557;AC=1;AF=0.50;AN=2;BaseQRankSum=1.145;DB;DP=140;Dels=0.0;FS=6.973;HRun=3;HaplotypeScore=0.8941;MQ=59.17;MQ0=0;MQRankSum=1.093;QD=10.72;ReadPosRankSum=1.71;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356248 GT:AD:DP:GQ:PL 0/1:78,62:140:99:1531,0,2486
3 69084434 rs2271122 T C 293.89 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.39;MQ0=0;QD=32.65;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356248 GT:AD:DP:GQ:PL 1/1:0,9:9:24.08:327,24,0
3 69088918 . T TC 570.06 PASS AC=2;AF=1.00;AN=2;DP=13;FS=0.0;HRun=0;HaplotypeScore=49.1608;IndelType=I;MQ=60.83;MQ0=0;QD=43.85;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000438636 GT:AD:DP:GQ:PL 1/1:0,13:13:39.13:612,39,0
3 69088944 rs67036817 T C 126.37 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.06;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000438636 GT:AD:DP:GQ:PL 1/1:0,6:6:12.04:159,12,0
3 69093598 rs2271118 T C 1213.49 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.3;MQ0=0;QD=36.77;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356248 GT:AD:DP:GQ:PL 1/1:0,33:33:93.31:1246,93,0
3 69096614 rs2292199 G A 3307.19 PASS AC=2;AF=1.00;AN=2;DB;DP=91;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.75;MQ0=0;QD=36.34;SNPEFF_AMINO_ACID_CHANGE=S327;SNPEFF_CODON_CHANGE=tcC/tcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_69096500_69097284;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMF1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000356248 GT:AD:DP:GQ:PL 1/1:0,91:91:99:3307,244,0
3 69100890 rs34175383 G A 77.24 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=0.365;DB;DP=10;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=7.72;ReadPosRankSum=-1.568;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000349511 GT:AD:DP:GQ:PL 0/1:6,4:10:99:107,0,206
3 69104695 rs6549179 T A 1374.02 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.56;MQ0=0;QD=32.71;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000349511 GT:AD:DP:GQ:PL 1/1:0,42:42:99:1407,108,0
3 69104752 rs6549180 C T 496.34 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.18;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000349511 GT:AD:DP:GQ:PL 1/1:0,13:13:39.13:529,39,0
3 69106119 rs35361133 A AT 554.35 PASS AC=2;AF=1.00;AN=2;DB;DP=15;FS=0.0;HRun=2;HaplotypeScore=36.1929;IndelType=I;MQ=58.66;MQ0=0;QD=36.96;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461522 GT:AD:DP:GQ:PL 1/1:1,14:15:42.14:596,42,0
3 69106187 rs1866262 G A 403.14 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.65;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461522 GT:AD:DP:GQ:PL 1/1:0,11:11:33.11:436,33,0
3 69106304 rs59405823 C T 1430.13 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.115;DB;DP=60;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9997;MQ=59.62;MQ0=0;MQRankSum=1.039;QD=23.84;ReadPosRankSum=0.115;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461522 GT:AD:DP:GQ:PL 1/1:1,59:60:99:1463,117,0
3 69106305 rs1866265 C G 1428.26 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.224;DB;DP=62;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9997;MQ=59.63;MQ0=0;MQRankSum=-1.062;QD=23.04;ReadPosRankSum=-0.056;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461522 GT:AD:DP:GQ:PL 1/1:1,61:62:99:1461,117,0
3 69111488 rs6800465 A T 39.21 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=7.84;ReadPosRankSum=-0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000349511 GT:AD:DP:GQ:PL 0/1:2,3:5:66.54:69,0,67
3 69112049 rs2289245 C T 605.47 PASS AB=0.512;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.879;DB;DP=43;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=-0.814;QD=14.08;ReadPosRankSum=1.154;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000349511 GT:AD:DP:GQ:PL 0/1:22,21:43:99:635,0,795
3 69153854 rs7038 G T 92.51 PASS AB=0.692;AC=1;AF=0.50;AN=2;BaseQRankSum=1.134;DB;DP=13;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=57.07;MQ0=0;MQRankSum=0.825;QD=7.12;ReadPosRankSum=-0.536;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARL6IP5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470936 GT:AD:DP:GQ:PL 0/1:9,4:13:99:123,0,255
3 69225588 rs11128118 T G 1588.36 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.97;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FRMD4B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398540 GT:AD:DP:GQ:PL 1/1:0,53:53:99:1621,138,0
3 69225875 rs9872199 T A 911.80 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.77;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FRMD4B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398540 GT:AD:DP:GQ:PL 1/1:0,27:27:72.23:945,72,0
3 69225911 rs9868107 A G 562.59 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.16;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FRMD4B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398540 GT:AD:DP:GQ:PL 1/1:0,16:16:45.15:596,45,0
3 69229976 rs12054011 G C 1329.05 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.5;MQ0=0;QD=35.92;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FRMD4B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398540 GT:AD:DP:GQ:PL 1/1:0,37:37:99:1362,102,0
3 69230026 rs9818314 T C 2532.55 PASS AC=2;AF=1.00;AN=2;DB;DP=74;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=59.69;MQ0=0;QD=33.77;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FRMD4B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398540 GT:AD:DP:GQ:PL 1/1:0,74:74:99:2566,196,0
3 69230061 rs9831516 G A 3686.36 PASS AC=2;AF=1.00;AN=2;DB;DP=103;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.78;MQ0=0;QD=35.79;SNPEFF_AMINO_ACID_CHANGE=S599L;SNPEFF_CODON_CHANGE=tCg/tTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_69230050_69230861;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FRMD4B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000478263 GT:AD:DP:GQ:PL 1/1:0,103:103:99:3686,268,0
3 69230801 rs9836305 G A 1576.70 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.782;MQ=58.41;MQ0=0;QD=35.83;SNPEFF_AMINO_ACID_CHANGE=H352;SNPEFF_CODON_CHANGE=caC/caT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_69230050_69230861;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FRMD4B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000478263 GT:AD:DP:GQ:PL 1/1:0,44:44:99:1610,123,0
3 69242770 rs11360023 CA C 1433.67 PASS AC=2;AF=1.00;AN=2;DB;DP=63;FS=0.0;HRun=11;HaplotypeScore=189.3674;IndelType=D;MQ=60.49;MQ0=0;QD=22.76;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FRMD4B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462512 GT:AD:DP:GQ:PL 1/1:2,61:63:99:1476,180,0
3 69243923 rs9849435 G A 37.66 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=49.84;MQ0=0;QD=18.83;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FRMD4B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462512 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:69,6,0
3 69244162 rs9853587 G A 2257.38 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.462;DB;DP=65;Dels=0.0;FS=4.445;HRun=0;HaplotypeScore=0.0;MQ=59.71;MQ0=0;MQRankSum=1.678;QD=34.73;ReadPosRankSum=-1.299;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FRMD4B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462512 GT:AD:DP:GQ:PL 1/1:1,64:65:99:2290,135,0
3 69245454 rs9310141 T C 7706.56 PASS AC=2;AF=1.00;AN=2;DB;DP=227;DS;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.6927;MQ=58.98;MQ0=0;QD=33.8;SNPEFF_AMINO_ACID_CHANGE=T107A;SNPEFF_CODON_CHANGE=Acg/Gcg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_69245406_69245547;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FRMD4B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000462512 GT:AD:DP:GQ:PL 1/1:0,227:227:99:7707,578,0
3 69245623 rs73095903 A G 303.52 PASS AB=0.655;AC=1;AF=0.50;AN=2;BaseQRankSum=2.373;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9947;MQ=59.58;MQ0=0;MQRankSum=0.887;QD=10.47;ReadPosRankSum=0.216;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FRMD4B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470070 GT:AD:DP:GQ:PL 0/1:19,10:29:99:334,0,626
3 69245689 rs112965837 A AAAAAC 419.52 PASS AC=2;AF=1.00;AN=2;DB;DP=12;FS=0.0;HRun=0;HaplotypeScore=72.5505;IndelType=I;MQ=57.0;MQ0=0;QD=34.96;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FRMD4B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470070 GT:AD:DP:GQ:PL 1/1:6,6:12:18.06:461,18,0
3 69245910 rs9823592 C A 838.09 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=6;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.93;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FRMD4B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470070 GT:AD:DP:GQ:PL 1/1:0,28:28:78.21:871,78,0
3 69245949 rs9860235 G C 1676.50 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.423;DB;DP=45;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.59;MQ0=0;MQRankSum=-0.423;QD=37.26;ReadPosRankSum=-0.423;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FRMD4B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470070 GT:AD:DP:GQ:PL 1/1:1,44:45:90.65:1710,91,0
3 69246152 rs13059488 A G 4971.25 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.297;DB;DP=142;Dels=0.0;FS=3.105;HRun=1;HaplotypeScore=2.899;MQ=59.38;MQ0=0;MQRankSum=0.569;QD=35.01;ReadPosRankSum=-0.668;SNPEFF_AMINO_ACID_CHANGE=L277;SNPEFF_CODON_CHANGE=Ttg/Ctg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_69246051_69246189;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FRMD4B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000542259 GT:AD:DP:GQ:PL 1/1:1,141:142:99:4971,349,0
3 69246274 rs13059687 A G 2525.26 PASS AC=2;AF=1.00;AN=2;DB;DP=77;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=3.4433;MQ=60.0;MQ0=0;QD=32.8;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FRMD4B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470070 GT:AD:DP:GQ:PL 1/1:0,75:77:99:2558,202,0
3 69246413 rs6549187 T C 129.61 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.4;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FRMD4B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470070 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:162,12,0
3 69247668 rs4624565 C T 47.20 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.6;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FRMD4B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000483668 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:78,6,0
3 69265291 rs7643175 T C 205.87 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.94;MQ0=0;QD=34.31;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FRMD4B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000493880 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:239,18,0
3 69265304 rs77475566 C CA 165.89 PASS AC=2;AF=1.00;AN=2;DB;DP=6;FS=0.0;HRun=8;HaplotypeScore=40.0088;IndelType=I;MQ=57.94;MQ0=0;QD=27.65;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FRMD4B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000493880 GT:AD:DP:GQ:PL 1/1:0,6:6:18.05:208,18,0
3 69265371 rs62254460 G C 513.27 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.62;MQ0=0;QD=36.66;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FRMD4B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000493880 GT:AD:DP:GQ:PL 1/1:0,14:14:42.13:546,42,0
3 69267578 rs4855301 A T 825.09 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=39.29;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FRMD4B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398540 GT:AD:DP:GQ:PL 1/1:0,21:21:63.21:858,63,0
3 69271032 rs62254461 G A 1074.43 PASS AB=0.441;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.809;DB;DP=68;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.464;QD=15.8;ReadPosRankSum=-0.228;SNPEFF_AMINO_ACID_CHANGE=L127;SNPEFF_CODON_CHANGE=ctC/ctT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_69271009_69271074;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FRMD4B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000493880 GT:AD:DP:GQ:PL 0/1:30,38:68:99:1104,0,759
3 69271206 rs6549189 T C 293.15 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;QD=36.64;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FRMD4B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460709 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:326,24,0
3 69273656 rs9848940 G T 509.60 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.16;MQ0=0;QD=33.97;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FRMD4B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460709 GT:AD:DP:GQ:PL 1/1:0,15:15:42.11:543,42,0
3 69274066 rs9849591 G A 84.86 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=48.5;MQ0=0;QD=21.22;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FRMD4B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398540 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:117,9,0
3 69299233 rs4361282 C G 2577.83 PASS AB=0.513;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.578;DB;DP=197;Dels=0.0;FS=0.524;HRun=0;HaplotypeScore=0.9958;MQ=59.25;MQ0=0;MQRankSum=-1.243;QD=13.09;ReadPosRankSum=-1.156;SNPEFF_AMINO_ACID_CHANGE=E119D;SNPEFF_CODON_CHANGE=gaG/gaC;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_69299194_69299250;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FRMD4B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000460709 GT:AD:DP:GQ:PL 0/1:101,96:197:99:2608,0,3006
3 69362706 rs1483895 C T 55.09 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=1.92;DB;DP=8;Dels=0.0;FS=4.26;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.684;QD=6.89;ReadPosRankSum=0.322;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FRMD4B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398540 GT:AD:DP:GQ:PL 0/1:5,3:8:85.08:85,0,150
3 69362722 rs2314992 C A 82.19 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=6.021;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.727;QD=20.55;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FRMD4B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398540 GT:AD:DP:GQ:PL 0/1:1,3:4:29.72:112,0,30
3 71015021 rs7638391 G T 4078 PASS AC=2;AF=1.00;AN=2;DB;DP=118;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9933;MQ=59.61;MQ0=0;QD=34.56;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FOXP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318789 GT:AD:DP:GQ:PL 1/1:0,118:118:99:4078,310,0
3 71019750 rs9874207 T C 254.07 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=1.468;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.715;QD=18.15;ReadPosRankSum=0.627;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FOXP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318789 GT:AD:DP:GQ:PL 0/1:6,8:14:99:284,0,183
3 71025935 rs13068094 C T 96.13 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;QD=24.03;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FOXP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318789 GT:AD:DP:GQ:PL 1/1:0,4:4:12.02:129,12,0
3 71101580 rs4555486 A G 72.99 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.988;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9916;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=12.16;ReadPosRankSum=1.537;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FOXP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318789 GT:AD:DP:GQ:PL 0/1:3,3:6:99:103,0,102
3 71247257 rs939845 A G 289.35 PASS AB=0.641;AC=1;AF=0.50;AN=2;BaseQRankSum=0.239;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.066;QD=7.42;ReadPosRankSum=-1.511;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FOXP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318779 GT:AD:DP:GQ:PL 0/1:25,14:39:99:319,0,838
3 71247572 rs56850311 A T 294.30 PASS AB=0.531;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.456;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.8886;MQ=58.59;MQ0=0;MQRankSum=-0.539;QD=8.92;ReadPosRankSum=1.742;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FOXP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318779 GT:AD:DP:GQ:PL 0/1:17,15:33:99:324,0,464
3 71247576 rs9855825 A T 191.53 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.491;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.022;MQ=59.17;MQ0=0;MQRankSum=0.26;QD=6.84;ReadPosRankSum=-2.396;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FOXP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318779 GT:AD:DP:GQ:PL 0/1:13,13:28:99:222,0,335
3 72495593 rs11460842 T TA 106.36 PASS AB=0.722;AC=1;AF=0.50;AN=2;BaseQRankSum=0.48;DB;DP=26;FS=0.0;HRun=17;HaplotypeScore=176.038;IndelType=I;MQ=39.42;MQ0=0;MQRankSum=-0.898;QD=4.09;ReadPosRankSum=-1.271;SNPEFF_EFFECT=INTRAGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYBP;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 0/1:15,10:26:1.29:144,0,1
3 72495777 rs13066407 C G 714.10 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.04;MQ0=0;QD=29.75;SNPEFF_EFFECT=INTRAGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYBP;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 1/1:0,24:24:60.17:747,60,0
3 72495945 rs13088771 A G 42.20 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=47.12;MQ0=0;QD=21.1;SNPEFF_EFFECT=INTRAGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RYBP;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:73,6,0
3 72873729 rs17690898 C G 536.63 PASS AB=0.553;AC=1;AF=0.50;AN=2;BaseQRankSum=2.026;DB;DP=38;Dels=0.0;FS=3.132;HRun=0;HaplotypeScore=0.9332;MQ=59.51;MQ0=0;MQRankSum=0.059;QD=14.12;ReadPosRankSum=0.793;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SHQ1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000325599 GT:AD:DP:GQ:PL 0/1:21,17:38:99:567,0,583
3 72957734 rs113101074 C CAGTGTTTA 2365.88 PASS AB=0.719;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.265;DB;DP=41;FS=1.519;HRun=0;HaplotypeScore=229.6512;IndelType=I;MQ=48.68;MQ0=0;MQRankSum=-4.062;QD=57.7;ReadPosRankSum=1.211;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GXYLT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389617 GT:AD:DP:GQ:PL 0/1:25,15:41:99:2405,0,1139
3 72971341 rs1502755 C T 2619.09 PASS AB=0.55;AC=1;AF=0.50;AN=2;BaseQRankSum=-6.813;DB;DP=230;Dels=0.0;FS=11.844;HRun=2;HaplotypeScore=1.9436;MQ=59.92;MQ0=0;MQRankSum=-0.931;QD=11.39;ReadPosRankSum=-0.381;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GXYLT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389617 GT:AD:DP:GQ:PL 0/1:126,103:230:99:2649,0,3890
3 72971686 rs62249904 G A 67.08 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.422;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.9;MQ0=0;MQRankSum=-0.573;QD=7.45;ReadPosRankSum=0.248;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GXYLT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389617 GT:AD:DP:GQ:PL 0/1:6,3:9:97.08:97,0,223
3 73004057 rs4455270 T C 38.04 PASS AB=0.769;AC=1;AF=0.50;AN=2;BaseQRankSum=0.592;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9983;MQ=60.0;MQ0=0;MQRankSum=-0.761;QD=2.93;ReadPosRankSum=0.761;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GXYLT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389617 GT:AD:DP:GQ:PL 0/1:10,3:13:68.03:68,0,373
3 73004157 rs1532190 T G 556.51 PASS AB=0.568;AC=1;AF=0.50;AN=2;BaseQRankSum=0.19;DB;DP=44;Dels=0.0;FS=8.952;HRun=0;HaplotypeScore=0.9665;MQ=59.58;MQ0=0;MQRankSum=0.971;QD=12.65;ReadPosRankSum=-0.355;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GXYLT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389617 GT:AD:DP:GQ:PL 0/1:25,19:44:99:586,0,867
3 73016635 rs3732442 C G 607.67 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.906;DB;DP=40;Dels=0.0;FS=3.01;HRun=1;HaplotypeScore=0.0;MQ=59.42;MQ0=0;MQRankSum=0.149;QD=15.19;ReadPosRankSum=-1.474;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GXYLT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389617 GT:AD:DP:GQ:PL 0/1:20,20:40:99:638,0,688
3 73016974 rs3821379 A G 628.65 PASS AB=0.459;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.783;DB;DP=38;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9997;MQ=60.0;MQ0=0;MQRankSum=0.716;QD=16.54;ReadPosRankSum=-1.295;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GXYLT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389617 GT:AD:DP:GQ:PL 0/1:17,20:38:99:659,0,605
3 73023934 rs7610684 G A 154.99 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=1.495;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.198;QD=22.14;ReadPosRankSum=0.198;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GXYLT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389617 GT:AD:DP:GQ:PL 0/1:2,5:7:41.94:185,0,42
3 73024350 rs1052278 C A 1503.13 PASS AB=0.469;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.232;DB;DP=96;Dels=0.0;FS=2.459;HRun=1;HaplotypeScore=1.3123;MQ=58.99;MQ0=0;MQRankSum=-0.433;QD=15.66;ReadPosRankSum=1.094;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GXYLT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491839 GT:AD:DP:GQ:PL 0/1:45,51:96:99:1533,0,1385
3 73045871 rs9812514 A G 40.99 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.5;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GXYLT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491839 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:72,6,0
3 73096591 rs71277513 A ATAAT 546.20 PASS AC=2;AF=1.00;AN=2;DB;DP=7;FS=0.0;HRun=0;HaplotypeScore=19.1954;IndelType=I;MQ=46.63;MQ0=0;QD=78.03;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPP4R2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295862 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:588,21,0
3 73110076 rs726029 G A 457.85 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.22;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPP4R2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000476505 GT:AD:DP:GQ:PL 1/1:0,13:13:39.12:491,39,0
3 73111368 rs2231924 T C 633.09 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.53;SNPEFF_AMINO_ACID_CHANGE=S46P;SNPEFF_CODON_CHANGE=Tcc/Ccc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_73110810_73112488;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EBLN2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000533473 GT:AD:DP:GQ:PL 1/1:0,23:23:57.17:666,57,0
3 73111809 rs2231926 A G 1937.55 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.88;MQ0=0;QD=31.25;SNPEFF_AMINO_ACID_CHANGE=I193V;SNPEFF_CODON_CHANGE=Att/Gtt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_73110810_73112488;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EBLN2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000533473 GT:AD:DP:GQ:PL 1/1:1,61:62:99:1971,156,0
3 73111973 rs2231928 A G 5075.80 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.913;DB;DP=168;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.3263;MQ=59.45;MQ0=0;MQRankSum=-0.787;QD=30.21;ReadPosRankSum=-1.48;SNPEFF_AMINO_ACID_CHANGE=P247;SNPEFF_CODON_CHANGE=ccA/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_73110810_73112488;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EBLN2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000533473 GT:AD:DP:GQ:PL 1/1:1,167:168:99:5076,365,0
3 73111998 rs1060584 C T 5895.81 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.971;DB;DP=186;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.4972;MQ=59.5;MQ0=0;MQRankSum=1.256;QD=31.7;ReadPosRankSum=-0.19;SNPEFF_AMINO_ACID_CHANGE=L256F;SNPEFF_CODON_CHANGE=Ctt/Ttt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_73110810_73112488;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EBLN2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000533473 GT:AD:DP:GQ:PL 1/1:1,184:186:99:5896,406,0
3 73112919 rs3841614 T TA 632.63 PASS AC=2;AF=1.00;AN=2;DB;DP=15;FS=0.0;HRun=2;HaplotypeScore=44.1688;IndelType=I;MQ=60.72;MQ0=0;QD=42.18;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EBLN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000533473 GT:AD:DP:GQ:PL 1/1:0,15:15:45.15:675,45,0
3 73112974 rs11708712 A T 401.43 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.67;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EBLN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000533473 GT:AD:DP:GQ:PL 1/1:0,13:14:39.11:434,39,0
3 73113528 rs4676901 C G 51.75 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.87;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EBLN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000533473 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:83,6,0
3 73434086 rs6787588 A G 777.87 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.05;MQ0=0;QD=32.41;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDZRN3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466348 GT:AD:DP:GQ:PL 1/1:0,24:24:60.20:811,60,0
3 73437112 rs6549532 A G 3077.06 PASS AC=2;AF=1.00;AN=2;DB;DP=92;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.25;MQ0=0;QD=33.45;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDZRN3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477434 GT:AD:DP:GQ:PL 1/1:0,92:92:99:3110,244,0
3 73437185 rs61732653 A G 1159.43 PASS AB=0.427;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.651;DB;DP=76;Dels=0.0;FS=2.215;HRun=1;HaplotypeScore=0.0;MQ=60.06;MQ0=0;MQRankSum=0.873;QD=15.26;ReadPosRankSum=-0.472;SNPEFF_AMINO_ACID_CHANGE=A141;SNPEFF_CODON_CHANGE=gcT/gcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_73437119_73437220;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDZRN3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000462146 GT:AD:DP:GQ:PL 0/1:32,43:76:99:1189,0,954
3 73437225 rs3830251 T TA 1158.34 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.207;DB;DP=50;FS=0.0;HRun=9;HaplotypeScore=230.4962;IndelType=I;MQ=60.31;MQ0=0;MQRankSum=0.679;QD=23.17;ReadPosRankSum=0.325;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDZRN3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477434 GT:AD:DP:GQ:PL 1/1:11,38:50:74.73:1200,75,0
3 73438828 rs2306507 C G 182.45 PASS AB=0.3;AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.66;MQ0=0;MQRankSum=1.386;QD=18.25;ReadPosRankSum=-0.296;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDZRN3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477434 GT:AD:DP:GQ:PL 0/1:3,7:10:88.60:212,0,89
3 73440108 rs35427155 G GA 1759.56 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.675;DB;DP=70;FS=0.0;HRun=10;HaplotypeScore=244.6349;IndelType=I;MQ=58.97;MQ0=0;MQRankSum=-1.447;QD=25.14;ReadPosRankSum=-0.714;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDZRN3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477434 GT:AD:DP:GQ:PL 1/1:11,55:70:99:1802,142,0
3 73450198 rs3816831 G A 455.58 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=0.764;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.6553;MQ=59.23;MQ0=0;MQRankSum=0.153;QD=15.19;ReadPosRankSum=1.462;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDZRN3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263666 GT:AD:DP:GQ:PL 0/1:14,16:30:99:486,0,393
3 73453201 rs2291464 C T 329.78 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.98;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDZRN3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000308537 GT:AD:DP:GQ:PL 1/1:0,10:10:27.09:363,27,0
3 73453325 rs2291463 C T 1595.60 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.28;MQ0=0;QD=30.68;SNPEFF_AMINO_ACID_CHANGE=V102;SNPEFF_CODON_CHANGE=gtG/gtA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_73453299_73453546;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDZRN3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000535920 GT:AD:DP:GQ:PL 1/1:0,52:52:99:1629,123,0
3 73457041 rs754588 T C 299.36 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.26;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDZRN3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000308537 GT:AD:DP:GQ:PL 1/1:0,9:9:24.08:332,24,0
3 73457560 rs1488128 A G 124.64 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.16;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDZRN3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263666 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:157,12,0
3 73651383 rs6809923 A T 267.62 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.99;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=59.2;MQ0=0;MQRankSum=-0.264;QD=9.23;ReadPosRankSum=1.031;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDZRN3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263666 GT:AD:DP:GQ:PL 0/1:18,10:29:99:298,0,628
3 73651469 rs6797804 C T 1115.08 PASS AB=0.586;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.463;DB;DP=99;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.9436;MQ=59.06;MQ0=0;MQRankSum=-0.345;QD=11.26;ReadPosRankSum=0.188;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDZRN3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263666 GT:AD:DP:GQ:PL 0/1:58,41:99:99:1145,0,1942
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3 75404937 rs57919596 T TA 66.59 PASS AB=0.647;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.214;DB;DP=22;FS=0.0;HRun=17;HaplotypeScore=221.0499;IndelType=I;MQ=45.38;MQ0=0;MQRankSum=-1.386;QD=3.03;ReadPosRankSum=-0.731;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP11-241K7.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000331736 GT:AD:DP:GQ:PL 0/1:10,10:22:16.50:106,0,17
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3 75406584 rs34054461 C T 2048.84 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.675;DB;DP=60;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.11;MQ0=0;MQRankSum=1.213;QD=34.15;ReadPosRankSum=-0.115;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP11-241K7.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478335 GT:AD:DP:GQ:PL 1/1:1,59:60:99:2082,157,0
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3 75420180 rs62259093 A G 1256.80 PASS AB=0.49;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.613;DB;DP=100;Dels=0.0;FS=1.688;HRun=0;HaplotypeScore=2.9458;MQ=54.74;MQ0=0;MQRankSum=1.434;QD=12.57;ReadPosRankSum=-0.048;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP11-803B1.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000504027 GT:AD:DP:GQ:PL 0/1:49,51:100:99:1287,0,1571
3 75469886 rs3750286 C G 87.83 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.28;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FAM86DP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000459803 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:120,9,0
3 75470190 rs192767744 C T 84.57 MQFilter40 AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.634;DB;DP=23;Dels=0.0;FS=2.187;HRun=0;HaplotypeScore=0.0;MQ=35.85;MQ0=2;MQRankSum=0.815;QD=3.68;ReadPosRankSum=-0.634;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FAM86DP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000459803 GT:AD:DP:GQ:PL 0/1:14,8:23:99:115,0,279
3 75472261 rs111470838 G T 1371.02 PASS AB=0.457;AC=1;AF=0.50;AN=2;BaseQRankSum=2.827;DB;DP=81;Dels=0.0;FS=5.47;HRun=1;HaplotypeScore=1.9907;MQ=59.14;MQ0=0;MQRankSum=0.868;QD=16.93;ReadPosRankSum=1.187;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FAM86DP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491583 GT:AD:DP:GQ:PL 0/1:37,44:81:99:1401,0,1090
3 75472289 rs111581298 C T 926.74 PASS AB=0.458;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.92;DB;DP=59;Dels=0.0;FS=5.795;HRun=0;HaplotypeScore=2.7199;MQ=59.65;MQ0=0;MQRankSum=0.966;QD=15.71;ReadPosRankSum=0.359;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FAM86DP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491583 GT:AD:DP:GQ:PL 0/1:27,32:59:99:957,0,833
3 75475470 rs11128432 T C 208.07 PASS AB=0.588;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.318;DB;DP=17;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.65;MQ0=0;MQRankSum=-1.27;QD=12.24;ReadPosRankSum=1.27;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP11-803B1.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000515248 GT:AD:DP:GQ:PL 0/1:10,7:17:99:238,0,322
3 75475588 rs9860745 C T 1333.56 PASS AB=0.44;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.593;DB;DP=91;Dels=0.0;FS=0.974;HRun=0;HaplotypeScore=3.1064;MQ=57.2;MQ0=0;MQRankSum=2.123;QD=14.65;ReadPosRankSum=0.475;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP11-803B1.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000515248 GT:AD:DP:GQ:PL 0/1:40,51:91:99:1364,0,1117
3 75475670 rs7430363 A C 1209.37 PASS AB=0.55;AC=1;AF=0.50;AN=2;BaseQRankSum=2.261;DB;DP=111;Dels=0.0;FS=6.537;HRun=1;HaplotypeScore=4.6741;MQ=55.27;MQ0=3;MQRankSum=-3.917;QD=10.9;ReadPosRankSum=-0.317;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP11-803B1.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000515248 GT:AD:DP:GQ:PL 0/1:61,50:111:99:1239,0,1705
3 75475685 rs11128433 A G 1012.94 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.014;DB;DP=121;Dels=0.0;FS=4.941;HRun=1;HaplotypeScore=1.5226;MQ=54.32;MQ0=5;MQRankSum=-5.217;QD=8.37;ReadPosRankSum=0.214;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP11-803B1.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000515248 GT:AD:DP:GQ:PL 0/1:70,50:121:99:1043,0,2101
3 75475707 rs113048321 G T 1094.37 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.601;DB;DP=120;Dels=0.0;FS=1.633;HRun=0;HaplotypeScore=1.6545;MQ=55.01;MQ0=3;MQRankSum=-4.684;QD=9.12;ReadPosRankSum=1.005;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP11-803B1.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000515248 GT:AD:DP:GQ:PL 0/1:72,48:120:99:1124,0,2263
3 75476572 rs7623451 C T 983.39 PASS AB=0.525;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.13;DB;DP=81;Dels=0.0;FS=1.933;HRun=0;HaplotypeScore=0.0;MQ=56.08;MQ0=0;MQRankSum=2.163;QD=12.14;ReadPosRankSum=-0.968;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FAM86DP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000459803 GT:AD:DP:GQ:PL 0/1:42,38:81:99:1013,0,1320
3 75476786 rs7623635 C T 1296.10 PASS AB=0.521;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.447;DB;DP=96;Dels=0.0;FS=9.804;HRun=0;HaplotypeScore=0.9665;MQ=57.38;MQ0=0;MQRankSum=-0.946;QD=13.5;ReadPosRankSum=-0.575;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FAM86DP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000459803 GT:AD:DP:GQ:PL 0/1:50,46:96:99:1326,0,1468
3 75476978 rs112799298 T C 1596.81 PASS AB=0.496;AC=1;AF=0.50;AN=2;BaseQRankSum=0.929;DB;DP=113;Dels=0.0;FS=7.621;HRun=0;HaplotypeScore=2.7523;MQ=54.9;MQ0=0;MQRankSum=-4.245;QD=14.13;ReadPosRankSum=-1.531;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FAM86DP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000459803 GT:AD:DP:GQ:PL 0/1:56,57:113:99:1627,0,1606
3 75477009 rs112201406 A G 1403.45 PASS AB=0.508;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.942;DB;DP=118;Dels=0.0;FS=1.487;HRun=0;HaplotypeScore=3.5571;MQ=54.03;MQ0=0;MQRankSum=-5.113;QD=11.89;ReadPosRankSum=-0.246;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FAM86DP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000459803 GT:AD:DP:GQ:PL 0/1:60,58:118:99:1433,0,1894
3 75477130 rs112104089 T A 764.81 PASS AB=0.589;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.775;DB;DP=73;Dels=0.0;FS=2.955;HRun=1;HaplotypeScore=1.7621;MQ=58.09;MQ0=0;MQRankSum=0.028;QD=10.34;ReadPosRankSum=-0.252;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FAM86DP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000459803 GT:AD:DP:GQ:PL 0/1:43,30:73:99:795,0,1371
3 75477268 rs36048024 G T 36.71 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=55.21;MQ0=0;MQRankSum=0.358;QD=7.34;ReadPosRankSum=-1.231;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FAM86DP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000459803 GT:AD:DP:GQ:PL 0/1:2,3:5:66.70:67,0,68
3 75478401 . AGAGT A 2398.52 PASS AB=0.677;AC=1;AF=0.50;AN=2;BaseQRankSum=7.412;DP=104;FS=0.0;HRun=0;HaplotypeScore=495.3603;IndelType=D;MQ=54.6;MQ0=0;MQRankSum=-2.372;QD=22.84;ReadPosRankSum=-0.145;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FAM86DP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000459803 GT:AD:DP:GQ:PL 0/1:55,50:104:99:2438,0,3746
3 75478496 rs111923719 C T 627.66 PASS AB=0.554;AC=1;AF=0.50;AN=2;BaseQRankSum=0.972;DB;DP=56;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=48.39;MQ0=0;MQRankSum=-6.395;QD=11.21;ReadPosRankSum=0.841;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FAM86DP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000459803 GT:AD:DP:GQ:PL 0/1:31,25:56:99:658,0,962
3 75478529 rs151257631 G A 430.91 PASS AB=0.553;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.233;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9867;MQ=48.5;MQ0=0;MQRankSum=-5.255;QD=11.34;ReadPosRankSum=-0.088;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FAM86DP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000459803 GT:AD:DP:GQ:PL 0/1:21,17:38:99:461,0,743
3 75479916 rs9713661 G A 768.10 PASS AB=0.404;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.114;DB;DP=47;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=48.62;MQ0=0;MQRankSum=-4.715;QD=16.34;ReadPosRankSum=-0.461;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FAM86DP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000459803 GT:AD:DP:GQ:PL 0/1:19,28:47:99:798,0,563
3 75480039 rs34306442 TCA T 1126.39 PASS AB=0.737;AC=1;AF=0.50;AN=2;BaseQRankSum=6.676;DB;DP=127;FS=25.071;HRun=0;HaplotypeScore=436.0285;IndelType=D;MQ=48.08;MQ0=2;MQRankSum=-8.5;QD=8.22;ReadPosRankSum=2.763;SNPEFF_EFFECT=SPLICE_SITE_ACCEPTOR;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FAM86DP;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000477247 GT:AD:DP:GQ:PL 0/1:88,49:127:99:1165,0,3407
3 75480183 rs9714401 C G 83 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=1.207;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=46.0;MQ0=2;MQRankSum=-2.764;QD=3.46;ReadPosRankSum=0.117;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FAM86DP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000459803 GT:AD:DP:GQ:PL 0/1:15,9:24:99:113,0,482
3 75482194 rs7639021 T C 33.40 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=1.067;DB;DP=8;Dels=0.0;FS=3.332;HRun=0;HaplotypeScore=0.0;MQ=58.07;MQ0=0;MQRankSum=1.589;QD=4.18;ReadPosRankSum=0.572;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FAM86DP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000459803 GT:AD:DP:GQ:PL 0/1:6,2:8:63.39:63,0,186
3 75484164 rs61032550 C A 65.86 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.2;MQ0=0;MQRankSum=0.72;QD=10.98;ReadPosRankSum=1.38;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FAM86DP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000459803 GT:AD:DP:GQ:PL 0/1:2,4:6:62.11:96,0,62
3 75484192 rs111456578 G A 66.99 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.406;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.38;MQ0=0;MQRankSum=1.537;QD=11.16;ReadPosRankSum=0.406;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FAM86DP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000459803 GT:AD:DP:GQ:PL 0/1:3,3:6:67.52:97,0,68
3 75484244 rs9848544 A G 46.56 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.55;MQ0=0;QD=23.28;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FAM86DP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477247 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:78,6,0
3 75679773 rs147943289 A T 60.47 MQFilter40 AB=0.368;AC=1;AF=0.50;AN=2;BaseQRankSum=0.493;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=3.5536;MQ=12.34;MQ0=6;MQRankSum=-1.283;QD=3.18;ReadPosRankSum=0.296;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=MIR1324;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408868 GT:AD:DP:GQ:PL 0/1:7,12:19:23.45:90,0,23
3 75679791 rs143252839 C T 117.59 MQFilter40 AB=0.296;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.701;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.4964;MQ=12.82;MQ0=7;MQRankSum=-1.575;QD=4.36;ReadPosRankSum=-2.079;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=MIR1324;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408868 GT:AD:DP:GQ:PL 0/1:8,19:27:14.50:148,0,14
3 75679820 . G T 173.59 MQFilter40 AB=0.297;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.213;DP=37;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9159;MQ=13.28;MQ0=6;MQRankSum=-0.402;QD=4.69;ReadPosRankSum=1.677;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=MIR1324;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408868 GT:AD:DP:GQ:PL 0/1:11,26:37:26.23:204,0,26
3 75679876 rs150592543 G A 234.63 HaplotypeScoreFilter13;MQFilter40 AB=0.214;AC=1;AF=0.50;AN=2;BaseQRankSum=3.229;DB;DP=84;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=13.6264;MQ=12.01;MQ0=15;MQRankSum=-0.286;QD=2.79;ReadPosRankSum=-1.186;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=MIR1324;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408868 GT:AD:DP:GQ:PL 0/1:18,66:84:36.94:265,0,37
3 75679893 . C T 84.13 MQFilter40;QDFilter2 AB=0.764;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.13;DP=123;Dels=0.0;FS=11.187;HRun=1;HaplotypeScore=0.9665;MQ=18.77;MQ0=16;MQRankSum=-0.615;QD=0.68;ReadPosRankSum=1.557;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=MIR1324;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408868 GT:AD:DP:GQ:PL 0/1:94,29:123:99:114,0,1037
3 75679937 rs141031386 G A 316.23 HaplotypeScoreFilter13;MQFilter40;QDFilter2 AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.002;DB;DP=204;Dels=0.0;FS=10.099;HRun=0;HaplotypeScore=48.8904;MQ=23.9;MQ0=13;MQRankSum=-1.086;QD=1.55;ReadPosRankSum=-1.414;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=MIR1324;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408868 GT:AD:DP:GQ:PL 0/1:153,51:204:99:346,0,2934
3 75679944 . C T 861.94 HaplotypeScoreFilter13;MQFilter40 AB=0.73;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.911;DP=212;Dels=0.0;FS=5.172;HRun=0;HaplotypeScore=44.3588;MQ=24.98;MQ0=12;MQRankSum=0.82;QD=4.07;ReadPosRankSum=1.313;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=MIR1324;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408868 GT:AD:DP:GQ:PL 0/1:154,57:212:99:892,0,2687
3 75679973 rs183720508 A G 492.97 MQFilter40;QDFilter2 AB=0.756;AC=1;AF=0.50;AN=2;BaseQRankSum=5.601;DB;DP=250;DS;Dels=0.0;FS=13.757;HRun=0;HaplotypeScore=0.9332;MQ=26.57;MQ0=4;MQRankSum=-0.564;QD=1.97;ReadPosRankSum=0.297;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=MIR1324;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408868 GT:AD:DP:GQ:PL 0/1:189,61:250:99:523,0,3716
3 75680010 rs75174508 T C 258.44 HaplotypeScoreFilter13;MQFilter40;QDFilter2 AB=0.793;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.818;DB;DP=208;DS;Dels=0.0;FS=6.084;HRun=0;HaplotypeScore=17.3626;MQ=28.03;MQ0=3;MQRankSum=-1.111;QD=1.24;ReadPosRankSum=1.125;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=MIR1324;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408868 GT:AD:DP:GQ:PL 0/1:165,43:208:99:288,0,3505
3 75680122 rs7614836 C A 102.37 MQFilter40;QDFilter2 AB=0.654;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.792;DB;DP=52;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.6643;MQ=14.68;MQ0=8;MQRankSum=1.348;QD=1.97;ReadPosRankSum=1.298;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=MIR1324;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408868 GT:AD:DP:GQ:PL 0/1:34,18:52:99:132,0,296
3 75680133 rs10154923 G T 86.68 MQFilter40;QDFilter2 AB=0.674;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.639;DB;DP=48;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.6274;MQ=15.06;MQ0=5;MQRankSum=-0.907;QD=1.81;ReadPosRankSum=-0.149;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=MIR1324;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408868 GT:AD:DP:GQ:PL 0/1:31,15:48:99:117,0,276
3 75680143 rs111613657 G T 92.66 MQFilter40 AB=0.658;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.292;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7333;MQ=15.46;MQ0=5;MQRankSum=-0.239;QD=2.44;ReadPosRankSum=-1.124;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=MIR1324;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408868 GT:AD:DP:GQ:PL 0/1:25,13:38:99:123,0,237
3 75680159 rs1829175 A T 61.25 MQFilter40 AB=0.724;AC=1;AF=0.50;AN=2;BaseQRankSum=1.378;DB;DP=29;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=15.47;MQ0=5;MQRankSum=0.765;QD=2.11;ReadPosRankSum=-0.153;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=MIR1324;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408868 GT:AD:DP:GQ:PL 0/1:21,8:29:91.24:91,0,184
3 75790972 rs118003039 C T 72.46 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=13.6;MQ0=16;QD=3.45;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ZNF717;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000422325 GT:AD:DP:GQ:PL 1/1:10,11:21:9.02:104,9,0
3 75986542 rs62269816 A G 1010.93 HaplotypeScoreFilter13 AB=0.327;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.167;DB;DP=110;Dels=0.0;FS=2.012;HRun=0;HaplotypeScore=25.3604;MQ=42.86;MQ0=6;MQRankSum=-6.529;QD=9.19;ReadPosRankSum=0.605;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ROBO2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000487694 GT:AD:DP:GQ:PL 0/1:36,74:110:99:1041,0,1210
3 75986622 rs9631539 C G 3542.94 PASS AB=0.335;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.534;DB;DP=248;DS;Dels=0.0;FS=7.98;HRun=0;HaplotypeScore=1.9157;MQ=43.44;MQ0=20;MQRankSum=-10.275;QD=14.29;ReadPosRankSum=-0.336;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ROBO2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000487694 GT:AD:DP:GQ:PL 0/1:83,165:248:99:3543,0,2515
3 75986663 rs12171318 C A 2574.15 PASS AB=0.36;AC=1;AF=0.50;AN=2;BaseQRankSum=7.306;DB;DP=243;DS;Dels=0.0;FS=16.503;HRun=2;HaplotypeScore=0.0;MQ=41.32;MQ0=23;MQRankSum=-11.952;QD=10.59;ReadPosRankSum=1.87;SNPEFF_AMINO_ACID_CHANGE=R7S;SNPEFF_CODON_CHANGE=Cgt/Agt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_75986645_75986753;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ROBO2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000343019 GT:AD:DP:GQ:PL 0/1:87,155:243:99:2604,0,2504
3 75986686 rs62269817 A G 2931.65 HaplotypeScoreFilter13 AB=0.311;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.845;DB;DP=244;DS;Dels=0.0;FS=1.836;HRun=0;HaplotypeScore=25.9175;MQ=41.42;MQ0=17;MQRankSum=-10.803;QD=12.01;ReadPosRankSum=-1.599;SNPEFF_AMINO_ACID_CHANGE=T14;SNPEFF_CODON_CHANGE=acA/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_75986645_75986753;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ROBO2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000343019 GT:AD:DP:GQ:PL 0/1:76,168:244:99:2962,0,2267
3 75986695 rs79015247 G A 81.63 HaplotypeScoreFilter13;QDFilter2 AB=0.883;AC=1;AF=0.50;AN=2;BaseQRankSum=3.839;DB;DP=248;DS;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=29.8641;MQ=43.05;MQ0=11;MQRankSum=-3.135;QD=0.33;ReadPosRankSum=-0.432;SNPEFF_AMINO_ACID_CHANGE=P17;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_75986645_75986753;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ROBO2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000343019 GT:AD:DP:GQ:PL 0/1:219,29:248:99:112,0,5505
3 75986717 rs78834776 G A 585.84 HaplotypeScoreFilter13 AB=0.8;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.177;DB;DP=250;DS;Dels=0.0;FS=6.567;HRun=0;HaplotypeScore=47.2183;MQ=45.78;MQ0=9;MQRankSum=-3.004;QD=2.34;ReadPosRankSum=0.476;SNPEFF_AMINO_ACID_CHANGE=V25M;SNPEFF_CODON_CHANGE=Gtg/Atg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_75986645_75986753;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ROBO2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000343019 GT:AD:DP:GQ:PL 0/1:200,50:250:99:616,0,5690
3 75986719 rs62269818 G C 3875.36 HaplotypeScoreFilter13 AB=0.32;AC=1;AF=0.50;AN=2;BaseQRankSum=5.598;DB;DP=250;DS;Dels=0.0;FS=22.21;HRun=0;HaplotypeScore=47.2183;MQ=45.83;MQ0=9;MQRankSum=-9.2;QD=15.5;ReadPosRankSum=1.648;SNPEFF_AMINO_ACID_CHANGE=V25;SNPEFF_CODON_CHANGE=gtG/gtC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_75986645_75986753;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ROBO2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000343019 GT:AD:DP:GQ:PL 0/1:80,170:250:99:3875,0,2166
3 75986794 rs80235520 G A 2209.92 PASS AB=0.424;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.264;DB;DP=145;DS;Dels=0.0;FS=13.519;HRun=2;HaplotypeScore=1.841;MQ=50.62;MQ0=3;MQRankSum=-7.396;QD=15.24;ReadPosRankSum=-0.479;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ROBO2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343019 GT:AD:DP:GQ:PL 0/1:61,83:145:99:2240,0,1709
3 75986813 rs77101234 T A 1434.31 PASS AB=0.531;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.554;DB;DP=113;DS;Dels=0.0;FS=3.858;HRun=1;HaplotypeScore=2.5452;MQ=52.12;MQ0=3;MQRankSum=-5.932;QD=12.69;ReadPosRankSum=-1.359;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ROBO2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343019 GT:AD:DP:GQ:PL 0/1:60,53:113:99:1464,0,1843
3 75986833 rs73123284 C T 506.63 PASS AB=0.69;AC=1;AF=0.50;AN=2;BaseQRankSum=4.818;DB;DP=88;DS;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.8606;MQ=54.09;MQ0=4;MQRankSum=-4.278;QD=5.76;ReadPosRankSum=-3.047;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ROBO2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343019 GT:AD:DP:GQ:PL 0/1:60,27:88:99:537,0,1640
3 75986874 rs7610755 G C 1337.40 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.238;DB;DP=57;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=50.2;MQ0=7;MQRankSum=5.145;QD=23.46;ReadPosRankSum=3.214;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ROBO2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343019 GT:AD:DP:GQ:PL 0/1:19,38:57:99:1367,0,103
3 75986880 rs76883623 C G 101.02 QDFilter2 AB=0.648;AC=1;AF=0.50;AN=2;BaseQRankSum=4.819;DB;DP=54;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.8583;MQ=49.6;MQ0=7;MQRankSum=-5.111;QD=1.87;ReadPosRankSum=-2.647;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ROBO2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343019 GT:AD:DP:GQ:PL 0/1:35,19:54:99:131,0,1053
3 75986920 rs74938295 A G 226.43 PASS AB=0.432;AC=1;AF=0.50;AN=2;BaseQRankSum=3.109;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=43.22;MQ0=5;MQRankSum=-4.843;QD=6.12;ReadPosRankSum=3.335;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ROBO2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343019 GT:AD:DP:GQ:PL 0/1:16,21:37:99:256,0,563
3 75986924 rs145511440 T G 227.97 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=2.629;DB;DP=36;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=42.66;MQ0=5;MQRankSum=-4.763;QD=6.33;ReadPosRankSum=3.024;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ROBO2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343019 GT:AD:DP:GQ:PL 0/1:15,21:36:99:258,0,542
3 75986950 rs75380808 A G 321.15 MQFilter40 AB=0.182;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.468;DB;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=3.9995;MQ=35.41;MQ0=0;MQRankSum=-3.107;QD=14.6;ReadPosRankSum=-1.575;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ROBO2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343019 GT:AD:DP:GQ:PL 0/1:4,18:22:99:351,0,120
3 75986953 . C T 55.61 MQFilter40 AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.717;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=7.9981;MQ=35.41;MQ0=0;MQRankSum=-0.99;QD=2.53;ReadPosRankSum=-2.15;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ROBO2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343019 GT:AD:DP:GQ:PL 0/1:14,8:22:85.61:86,0,381
3 75986961 rs72886589 T C 251.38 MQFilter40 AB=0.211;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.45;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=5.8685;MQ=36.32;MQ0=0;MQRankSum=-3.05;QD=13.23;ReadPosRankSum=-0.75;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ROBO2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343019 GT:AD:DP:GQ:PL 0/1:4,15:19:99:281,0,117
3 75986975 rs73841023 A T 115.24 MQFilter40 AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=1.271;DB;DP=10;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=34.9;MQ0=0;MQRankSum=-1.733;QD=11.52;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ROBO2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343019 GT:AD:DP:GQ:PL 0/1:2,8:10:61.94:145,0,62
3 76467191 rs7647603 A G 112.87 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9997;MQ=60.0;MQ0=0;MQRankSum=0.731;QD=22.57;ReadPosRankSum=0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ROBO2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343019 GT:AD:DP:GQ:PL 0/1:1,4:5:24.27:143,0,24
3 77595835 rs699451 A G 149.91 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=1.881;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-2.219;QD=16.66;ReadPosRankSum=0.361;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ROBO2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000332191 GT:AD:DP:GQ:PL 0/1:4,5:9:99:180,0,134
3 77599763 rs2029004 C T 74.79 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=55.21;MQ0=0;MQRankSum=0.731;QD=14.96;ReadPosRankSum=0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ROBO2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000332191 GT:AD:DP:GQ:PL 0/1:1,4:5:27.28:105,0,27
3 77607070 rs79493675 A AC 2151.09 PASS AC=2;AF=1.00;AN=2;DB;DP=54;FS=0.0;HRun=2;HaplotypeScore=126.2677;IndelType=I;MQ=60.77;MQ0=0;QD=39.84;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ROBO2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000332191 GT:AD:DP:GQ:PL 1/1:3,51:54:99:2193,154,0
3 77644039 rs775720 A G 35.61 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.81;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ROBO2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000332191 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:67,6,0
3 77645946 rs111847008 CT C 484.40 PASS AC=2;AF=1.00;AN=2;DB;DP=38;FS=0.0;HRun=13;HaplotypeScore=231.3615;IndelType=D;MQ=56.13;MQ0=0;QD=12.42;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ROBO2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000332191 GT:AD:DP:GQ:PL 1/1:7,27:38:76.62:526,77,0
3 77645984 rs775718 A G 771.95 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.485;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.72;MQ0=0;MQRankSum=0.901;QD=30.88;ReadPosRankSum=-0.763;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ROBO2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000332191 GT:AD:DP:GQ:PL 1/1:1,24:25:27.43:805,27,0
3 77667044 rs1523768 G A 317.66 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.3;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ROBO2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469233 GT:AD:DP:GQ:PL 1/1:0,9:9:27.07:351,27,0
3 78656351 rs9831685 A T 70.07 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=6;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ROBO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398412 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:102,9,0
3 78663634 rs2872006 T C 130.27 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=1.0;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.831;QD=10.86;ReadPosRankSum=-0.244;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ROBO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398412 GT:AD:DP:GQ:PL 0/1:7,5:12:99:160,0,253
3 78663656 rs2872005 C T 133.33 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.267;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.2;QD=9.52;ReadPosRankSum=0.8;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ROBO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398412 GT:AD:DP:GQ:PL 0/1:9,5:14:99:163,0,322
3 78663956 rs1027832 G A 379.28 PASS AB=0.568;AC=1;AF=0.50;AN=2;BaseQRankSum=2.596;DB;DP=37;Dels=0.0;FS=3.909;HRun=1;HaplotypeScore=8.2955;MQ=55.25;MQ0=0;MQRankSum=0.073;QD=10.25;ReadPosRankSum=0.024;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ROBO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398412 GT:AD:DP:GQ:PL 0/1:21,16:37:99:409,0,290
3 78664093 rs1027833 C T 82.47 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=51.77;MQ0=0;QD=27.49;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ROBO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398412 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:115,9,0
3 78666765 rs9839790 T C 1176.09 PASS AB=0.482;AC=1;AF=0.50;AN=2;BaseQRankSum=1.372;DB;DP=83;Dels=0.0;FS=4.235;HRun=0;HaplotypeScore=0.9867;MQ=58.31;MQ0=0;MQRankSum=-2.046;QD=14.17;ReadPosRankSum=-0.342;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ROBO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398412 GT:AD:DP:GQ:PL 0/1:40,43:83:99:1206,0,1138
3 78676422 rs7614084 G A 539.26 PASS AB=0.472;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.933;DB;DP=36;Dels=0.0;FS=3.627;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.032;QD=14.98;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ROBO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398412 GT:AD:DP:GQ:PL 0/1:17,19:36:99:569,0,534
3 78676467 rs7636043 A G 1226.20 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ROBO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398412 GT:AD:DP:GQ:PL 1/1:0,41:41:96.31:1259,96,0
3 78680578 rs6548592 T C 742.35 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.93;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ROBO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398412 GT:AD:DP:GQ:PL 1/1:0,24:24:66.18:775,66,0
3 78682880 rs2660738 T C 278.67 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.96;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ROBO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398412 GT:AD:DP:GQ:PL 1/1:0,9:9:24.05:312,24,0
3 78695185 rs73108203 A G 307.62 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.407;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=0.297;QD=13.98;ReadPosRankSum=-0.495;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ROBO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398412 GT:AD:DP:GQ:PL 0/1:10,12:22:99:338,0,364
3 78700779 rs3925684 C A 851.23 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.47;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ROBO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398412 GT:AD:DP:GQ:PL 1/1:0,24:24:72.22:884,72,0
3 78700838 rs58872086 G A 1013.58 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=1.767;DB;DP=65;Dels=0.0;FS=4.857;HRun=1;HaplotypeScore=1.7262;MQ=60.0;MQ0=0;MQRankSum=0.958;QD=15.59;ReadPosRankSum=-1.011;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ROBO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398412 GT:AD:DP:GQ:PL 0/1:30,35:65:99:1044,0,981
3 78701170 rs60505291 T C 450.78 PASS AB=0.541;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.886;DB;DP=37;Dels=0.0;FS=3.259;HRun=1;HaplotypeScore=1.5115;MQ=59.38;MQ0=0;MQRankSum=-1.63;QD=12.18;ReadPosRankSum=-1.813;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ROBO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398412 GT:AD:DP:GQ:PL 0/1:20,17:37:99:481,0,698
3 78701217 rs7619956 A G 679.16 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.73;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ROBO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398412 GT:AD:DP:GQ:PL 1/1:0,18:18:54.17:712,54,0
3 78709159 rs2118068 C T 81.21 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=47.12;MQ0=0;QD=13.53;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ROBO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398412 GT:AD:DP:GQ:PL 1/1:0,6:6:9.03:113,9,0
3 78717508 rs2255164 G A 1267.26 PASS AB=0.447;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.239;DB;DP=76;Dels=0.0;FS=5.137;HRun=0;HaplotypeScore=0.9578;MQ=59.7;MQ0=0;MQRankSum=2.091;QD=16.67;ReadPosRankSum=-1.506;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ROBO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398412 GT:AD:DP:GQ:PL 0/1:34,42:76:99:1297,0,1100
3 78737962 rs967454 G A 1444.36 PASS AB=0.447;AC=1;AF=0.50;AN=2;BaseQRankSum=0.679;DB;DP=85;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.5979;MQ=59.73;MQ0=0;MQRankSum=0.211;QD=16.99;ReadPosRankSum=-0.948;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ROBO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000488735 GT:AD:DP:GQ:PL 0/1:38,47:85:99:1474,0,1088
3 78796078 rs2304503 C A 2395.40 PASS AC=2;AF=1.00;AN=2;DB;DP=75;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.5518;MQ=60.0;MQ0=0;QD=31.94;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ROBO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398412 GT:AD:DP:GQ:PL 1/1:1,74:75:99:2428,190,0
3 79633615 rs58255176 A C 140.10 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=0.212;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=55.52;MQ0=0;MQRankSum=2.223;QD=8.76;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ROBO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398414 GT:AD:DP:GQ:PL 0/1:9,7:16:99:170,0,238
3 79633754 rs72905972 T A 104.65 PASS AB=0.684;AC=1;AF=0.50;AN=2;BaseQRankSum=1.545;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=53.29;MQ0=0;MQRankSum=-2.669;QD=5.23;ReadPosRankSum=0.609;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ROBO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398414 GT:AD:DP:GQ:PL 0/1:13,6:20:99:135,0,373
3 79633846 rs9871796 T C 134.41 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.03;MQ0=0;QD=19.2;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ROBO1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398414 GT:AD:DP:GQ:PL 1/1:0,7:7:15.04:167,15,0
3 81539382 rs846 C T 140.66 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=0.387;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9967;MQ=60.0;MQ0=0;MQRankSum=-0.143;QD=12.79;ReadPosRankSum=0.143;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBE1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264326 GT:AD:DP:GQ:PL 0/1:6,5:11:99:171,0,213
3 81548209 rs34988523 T TAAG 439.60 PASS AB=0.758;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.99;DB;DP=25;FS=0.0;HRun=0;HaplotypeScore=81.6204;IndelType=I;MQ=57.41;MQ0=0;MQRankSum=-0.087;QD=17.58;ReadPosRankSum=-0.029;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBE1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264326 GT:AD:DP:GQ:PL 0/1:17,8:25:99:479,0,759
3 81584268 rs139816486 CT C 34.79 QDFilter2 AB=0.733;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.718;DB;DP=22;FS=0.0;HRun=14;HaplotypeScore=137.2585;IndelType=D;MQ=57.87;MQ0=0;MQRankSum=0.779;QD=1.58;ReadPosRankSum=1.073;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBE1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264326 GT:AD:DP:GQ:PL 0/1:14,6:22:73.82:74,0,128
3 81626909 rs6548770 C T 67.81 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.956;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.322;QD=8.48;ReadPosRankSum=0.322;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBE1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264326 GT:AD:DP:GQ:PL 0/1:5,3:8:97.81:98,0,175
3 81643167 rs2172397 T C 1478.93 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.47;SNPEFF_AMINO_ACID_CHANGE=I293V;SNPEFF_CODON_CHANGE=Att/Gtt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_81643059_81643174;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBE1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000489715 GT:AD:DP:GQ:PL 1/1:0,47:47:99:1512,111,0
3 81698130 rs2229519 T C 1148.88 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.077;DB;DP=77;Dels=0.0;FS=14.306;HRun=1;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=1.247;QD=14.92;ReadPosRankSum=-0.325;SNPEFF_AMINO_ACID_CHANGE=R149G;SNPEFF_CODON_CHANGE=Aga/Gga;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_81698007_81698142;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBE1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000489715 GT:AD:DP:GQ:PL 0/1:33,44:77:99:1179,0,1069
3 81810702 rs11391701 A AG 388.74 PASS AC=2;AF=1.00;AN=2;DB;DP=11;FS=0.0;HRun=2;HaplotypeScore=61.192;IndelType=I;MQ=45.77;MQ0=0;QD=35.34;SNPEFF_EFFECT=FRAME_SHIFT;SNPEFF_EXON_ID=exon_3_81810526_81810704;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBE1;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000264326 GT:AD:DP:GQ:PL 1/1:2,9:11:30.10:431,30,0
3 81810725 rs2290081 C T 36.71 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.21;MQ0=0;MQRankSum=1.231;QD=7.34;ReadPosRankSum=1.231;SNPEFF_AMINO_ACID_CHANGE=A33;SNPEFF_CODON_CHANGE=gcG/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_81810707_81810823;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GBE1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000264326 GT:AD:DP:GQ:PL 0/1:3,2:5:62.74:67,0,63
3 84339451 rs5850635 CA C 110.69 PASS AB=0.762;AC=1;AF=0.50;AN=2;BaseQRankSum=1.898;DB;DP=16;FS=0.0;HRun=2;HaplotypeScore=45.8348;IndelType=D;MQ=60.0;MQ0=0;MQRankSum=1.286;QD=6.92;ReadPosRankSum=-1.776;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AC108696.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408453 GT:AD:DP:GQ:PL 0/1:11,5:16:99:150,0,405
3 85984830 rs36080783 T C 787.78 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.51;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CADM2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000383699 GT:AD:DP:GQ:PL 1/1:0,20:21:60.20:821,60,0
3 87100160 rs4858947 T C 87.29 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=45.97;MQ0=0;QD=21.82;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=PPATP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000496669 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:119,9,0
3 87100309 rs2575753 T C 424.30 PASS AB=0.587;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.961;DB;DP=46;Dels=0.0;FS=3.519;HRun=1;HaplotypeScore=0.0;MQ=43.93;MQ0=1;MQRankSum=0.151;QD=9.22;ReadPosRankSum=0.521;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=PPATP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000496669 GT:AD:DP:GQ:PL 0/1:27,19:46:99:454,0,735
3 87100434 rs7619398 G A 879.72 PASS AB=0.403;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.079;DB;DP=62;Dels=0.0;FS=2.419;HRun=0;HaplotypeScore=1.6208;MQ=43.56;MQ0=2;MQRankSum=-0.656;QD=14.19;ReadPosRankSum=-0.279;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=PPATP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000496669 GT:AD:DP:GQ:PL 0/1:25,37:62:99:910,0,667
3 87100447 rs9831869 G A 761.71 PASS AB=0.565;AC=1;AF=0.50;AN=2;BaseQRankSum=1.397;DB;DP=62;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=46.79;MQ0=2;MQRankSum=0.921;QD=12.29;ReadPosRankSum=-0.134;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=PPATP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000496669 GT:AD:DP:GQ:PL 0/1:35,27:62:99:792,0,890
3 87276699 rs2279720 C T 693.23 PASS AB=0.442;AC=1;AF=0.50;AN=2;BaseQRankSum=2.986;DB;DP=43;Dels=0.0;FS=9.282;HRun=0;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=0.597;QD=16.12;ReadPosRankSum=-1.207;SNPEFF_AMINO_ACID_CHANGE=T9;SNPEFF_CODON_CHANGE=acC/acT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_87276435_87276706;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHMP2B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000263780 GT:AD:DP:GQ:PL 0/1:19,24:43:99:723,0,555
3 87295049 rs11540913 T C 2390.65 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.635;DB;DP=71;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.4679;MQ=59.68;MQ0=0;MQRankSum=-0.415;QD=33.67;ReadPosRankSum=-0.61;SNPEFF_AMINO_ACID_CHANGE=T104;SNPEFF_CODON_CHANGE=acT/acC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_87294864_87295058;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHMP2B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000263780 GT:AD:DP:GQ:PL 1/1:1,70:71:99:2424,181,0
3 87299075 rs1044499 A C 778.79 PASS AB=0.46;AC=1;AF=0.50;AN=2;BaseQRankSum=1.479;DB;DP=50;Dels=0.0;FS=6.129;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.031;QD=15.58;ReadPosRankSum=-0.61;SNPEFF_AMINO_ACID_CHANGE=T124;SNPEFF_CODON_CHANGE=acA/acC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_87299025_87299127;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHMP2B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000263780 GT:AD:DP:GQ:PL 0/1:23,27:50:99:809,0,709
3 87299238 rs2270666 G C 192.20 PASS AB=0.222;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.762;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.067;QD=21.36;ReadPosRankSum=0.762;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHMP2B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263780 GT:AD:DP:GQ:PL 0/1:2,7:9:55.17:222,0,55
3 88105264 rs3732776 A C 130.04 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.51;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CGGBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474441 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:163,12,0
3 88188420 rs9813894 G A 991.75 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.14;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RP11-159G9.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473136 GT:AD:DP:GQ:PL 1/1:0,26:26:75.23:1025,75,0
3 88189341 rs7653652 T C 7439.77 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.583;DB;DP=218;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.3602;MQ=59.81;MQ0=0;MQRankSum=0.146;QD=34.13;ReadPosRankSum=0.907;SNPEFF_AMINO_ACID_CHANGE=I294T;SNPEFF_CODON_CHANGE=aTa/aCa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_88188254_88190198;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF654;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000309495 GT:AD:DP:GQ:PL 1/1:1,217:218:99:7440,512,0
3 88190768 rs7432826 C A 48.79 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.39;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RP11-159G9.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000498458 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:80,6,0
3 88190809 rs7432838 C T 94.49 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.5;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RP11-159G9.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000498458 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:127,9,0
3 88199179 rs6551277 T C 576.12 HaplotypeScoreFilter13 AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=15.9316;MQ=58.59;MQ0=0;QD=25.05;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf38;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464919 GT:AD:DP:GQ:PL 1/1:1,22:23:51.12:609,51,0
3 88199185 rs11425443 T TC 684.69 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.576;DB;DP=23;FS=0.0;HRun=7;HaplotypeScore=151.8157;IndelType=I;MQ=58.59;MQ0=0;MQRankSum=1.576;QD=29.77;ReadPosRankSum=0.788;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf38;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464919 GT:AD:DP:GQ:PL 1/1:2,21:23:56.12:727,56,0
3 88199298 rs6551278 T C 698.58 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.11;SNPEFF_AMINO_ACID_CHANGE=T32;SNPEFF_CODON_CHANGE=acT/acC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_88198893_88199335;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf38;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000318887 GT:AD:DP:GQ:PL 1/1:0,24:24:60.17:732,60,0
3 89176645 rs9835094 A G 45.13 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.57;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPHA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336596 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:76,6,0
3 89456555 rs3792572 T A 181.78 PASS AB=0.385;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.977;DB;DP=13;Dels=0.0;FS=3.424;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.38;QD=13.98;ReadPosRankSum=1.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPHA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336596 GT:AD:DP:GQ:PL 0/1:5,8:13:99:212,0,178
3 89480265 rs12639506 A G 445.29 PASS AB=0.486;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.342;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.34;MQ0=0;MQRankSum=-1.387;QD=12.72;ReadPosRankSum=-0.919;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPHA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336596 GT:AD:DP:GQ:PL 0/1:17,18:35:99:475,0,582
3 89498619 rs1028011 A G 731.03 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.48;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPHA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336596 GT:AD:DP:GQ:PL 1/1:0,19:19:57.19:764,57,0
3 89521509 rs73139110 C A 309.82 PASS AB=0.567;AC=1;AF=0.50;AN=2;BaseQRankSum=1.632;DB;DP=30;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.39;MQ0=0;MQRankSum=0.586;QD=10.33;ReadPosRankSum=-0.293;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPHA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336596 GT:AD:DP:GQ:PL 0/1:17,13:30:99:340,0,623
3 89521602 rs112297761 T TC 1629.17 PASS AB=0.683;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.549;DB;DP=97;FS=10.724;HRun=0;HaplotypeScore=245.8011;IndelType=I;MQ=58.93;MQ0=0;MQRankSum=0.332;QD=16.8;ReadPosRankSum=0.123;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPHA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336596 GT:AD:DP:GQ:PL 0/1:52,45:97:99:1668,0,1791
3 89521693 rs35124509 T C 1038.86 PASS AB=0.494;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.83;DB;DP=79;Dels=0.0;FS=5.125;HRun=1;HaplotypeScore=0.0;MQ=58.95;MQ0=0;MQRankSum=0.476;QD=13.15;ReadPosRankSum=1.093;SNPEFF_AMINO_ACID_CHANGE=W924R;SNPEFF_CODON_CHANGE=Tgg/Cgg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_89521614_89521769;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPHA3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000336596 GT:AD:DP:GQ:PL 0/1:39,40:79:99:1069,0,1260
3 89521725 rs1054750 T C 819.75 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.029;DB;DP=55;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.73;MQ0=0;MQRankSum=0.38;QD=14.9;ReadPosRankSum=-0.583;SNPEFF_AMINO_ACID_CHANGE=G934;SNPEFF_CODON_CHANGE=ggT/ggC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_89521614_89521769;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPHA3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000336596 GT:AD:DP:GQ:PL 0/1:25,30:55:99:850,0,826
3 89521900 rs73139115 G T 42.84 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=47.12;MQ0=0;QD=21.42;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPHA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336596 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:74,6,0
3 89528461 rs12631313 A T 148.12 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.453;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.103;QD=14.81;ReadPosRankSum=0.103;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPHA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336596 GT:AD:DP:GQ:PL 0/1:5,5:10:99:178,0,181
3 89528477 rs12636710 G A 163.59 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=0.377;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.312;QD=12.58;ReadPosRankSum=-0.312;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPHA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336596 GT:AD:DP:GQ:PL 0/1:6,7:13:99:194,0,201
3 90264768 rs6803112 A G 2904 PASS AC=2;AF=1.00;AN=2;DB;DP=89;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.63;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=PROSP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474651 GT:AD:DP:GQ:PL 1/1:0,89:89:99:2937,235,0
3 90274805 rs7429659 G A 3733.75 PASS AC=2;AF=1.00;AN=2;DB;DP=110;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.76;MQ0=0;QD=33.94;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=PROSP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474651 GT:AD:DP:GQ:PL 1/1:0,110:110:99:3734,274,0
3 90276511 rs9815264 G A 290.91 PASS AB=0.478;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.923;DB;DP=23;Dels=0.0;FS=4.31;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.092;QD=12.65;ReadPosRankSum=-1.016;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=PROSP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474651 GT:AD:DP:GQ:PL 0/1:11,12:23:99:321,0,324
3 90276661 rs9815542 G A 297.83 PASS AB=0.542;AC=1;AF=0.50;AN=2;BaseQRankSum=0.465;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=-0.341;QD=12.41;ReadPosRankSum=0.527;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=PROSP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474651 GT:AD:DP:GQ:PL 0/1:13,11:24:99:328,0,449
3 90306556 rs34271374 GC G 203.68 PASS AB=0.708;AC=1;AF=0.50;AN=2;BaseQRankSum=0.537;DB;DP=17;FS=2.062;HRun=1;HaplotypeScore=47.3782;IndelType=D;MQ=60.63;MQ0=0;MQRankSum=0.146;QD=11.98;ReadPosRankSum=-2.391;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=PROSP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474651 GT:AD:DP:GQ:PL 0/1:10,7:17:99:243,0,429
3 93593119 rs6123 T C 1378.58 PASS AB=0.541;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.065;DB;DP=110;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=51.38;MQ0=1;MQRankSum=1.18;QD=12.53;ReadPosRankSum=0.952;SNPEFF_AMINO_ACID_CHANGE=P536;SNPEFF_CODON_CHANGE=ccA/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_93591953_93593249;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PROS1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000407433 GT:AD:DP:GQ:PL 0/1:59,50:110:99:1409,0,1728
3 93605126 rs8178649 A G 803.71 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.813;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9987;MQ=60.0;MQ0=0;MQRankSum=0.443;QD=20.09;ReadPosRankSum=2.613;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PROS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000394236 GT:AD:DP:GQ:PL 0/1:16,24:40:99:834,0,501
3 93646396 rs8178610 C T 72.62 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.537;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=12.1;ReadPosRankSum=-0.406;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PROS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000348974 GT:AD:DP:GQ:PL 0/1:3,3:6:99:103,0,110
3 93780109 rs61739170 G C 2106.92 PASS AB=0.568;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.204;DB;DP=156;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.3537;MQ=59.56;MQ0=0;MQRankSum=-0.813;QD=13.42;ReadPosRankSum=0.117;SNPEFF_AMINO_ACID_CHANGE=P83A;SNPEFF_CODON_CHANGE=Cct/Gct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_93776766_93780450;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=DHFRL1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000314636 GT:AD:DP:GQ:PL 0/1:88,67:156:99:2137,0,2658
3 93813171 rs10934676 C G 287.47 PASS AB=0.474;AC=1;AF=0.50;AN=2;BaseQRankSum=3.633;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.592;QD=15.13;ReadPosRankSum=0.041;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NSUN3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000314622 GT:AD:DP:GQ:PL 0/1:9,10:19:99:317,0,251
3 94226412 rs113985616 G A 449.93 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.623;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.27;MQ0=0;MQRankSum=0.162;QD=15.51;ReadPosRankSum=1.091;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP11-668N23.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000313754 GT:AD:DP:GQ:PL 0/1:12,16:29:99:480,0,355
3 96068956 rs4857197 T C 2720.53 PASS AC=2;AF=1.00;AN=2;DB;DP=77;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7338;MQ=60.0;MQ0=0;QD=35.33;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=HNRNPKP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485383 GT:AD:DP:GQ:PL 1/1:0,77:77:99:2754,208,0
3 96069450 rs34039875 CAT C 1409.70 PASS AB=0.69;AC=1;AF=0.50;AN=2;BaseQRankSum=5.7;DB;DP=80;FS=5.787;HRun=0;HaplotypeScore=282.8375;IndelType=D;MQ=59.7;MQ0=0;MQRankSum=1.633;QD=17.62;ReadPosRankSum=0.459;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=HNRNPKP4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485383 GT:AD:DP:GQ:PL 0/1:44,36:80:99:1449,0,2425
3 96152471 rs326305 A G 65.80 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=0.361;DB;DP=9;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.876;QD=7.31;ReadPosRankSum=-0.361;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AC108697.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000401317 GT:AD:DP:GQ:PL 0/1:5,4:9:95.79:96,0,172
3 96385064 rs75357909 G A 852.52 PASS AB=0.492;AC=1;AF=0.50;AN=2;BaseQRankSum=1.095;DB;DP=61;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.21;MQ0=0;MQRankSum=-0.207;QD=13.98;ReadPosRankSum=-1.627;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AC117444.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000390742 GT:AD:DP:GQ:PL 0/1:30,31:61:99:883,0,889
3 96385084 rs7630008 C T 2066.16 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9973;MQ=59.61;MQ0=0;QD=32.28;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AC117444.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000390742 GT:AD:DP:GQ:PL 1/1:0,64:64:99:2099,159,0
3 96385304 rs4499624 G A 323.51 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.2;MQ0=0;QD=24.89;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AC117444.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000390742 GT:AD:DP:GQ:PL 1/1:0,13:13:27.09:356,27,0
3 97194422 rs7624823 T G 1225.89 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;QD=38.31;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPHA6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389672 GT:AD:DP:GQ:PL 1/1:0,32:32:90.30:1259,90,0
3 97197948 rs967571 C T 44.02 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=14.67;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPHA6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389672 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:75,6,0
3 97467361 rs138837886 ATCTC A 582.50 PASS AB=0.66;AC=1;AF=0.50;AN=2;BaseQRankSum=3.285;DB;DP=31;FS=0.0;HRun=0;HaplotypeScore=148.2681;IndelType=D;MQ=59.61;MQ0=0;MQRankSum=0.804;QD=18.79;ReadPosRankSum=0.528;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EPHA6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477384 GT:AD:DP:GQ:PL 0/1:15,15:31:99:622,0,896
3 97499654 rs10935082 T A 541.45 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.96;MQ0=0;QD=30.08;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ARL6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000335979 GT:AD:DP:GQ:PL 1/1:0,18:18:45.14:574,45,0
3 97517118 rs4857294 G C 93.26 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.09;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ARL6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000493990 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:125,9,0
3 97605313 rs9862347 A T 203.91 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=57.05;MQ0=0;QD=25.49;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRYBG3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000182096 GT:AD:DP:GQ:PL 1/1:0,8:8:24.04:237,24,0
3 97605677 rs831902 A G 402.70 PASS AB=0.61;AC=1;AF=0.50;AN=2;BaseQRankSum=0.251;DB;DP=41;Dels=0.0;FS=1.986;HRun=0;HaplotypeScore=0.0;MQ=59.44;MQ0=0;MQRankSum=-1.397;QD=9.82;ReadPosRankSum=0.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRYBG3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000182096 GT:AD:DP:GQ:PL 0/1:25,16:41:99:433,0,831
3 97607290 rs13065340 G A 818.22 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=2.363;DB;DP=88;Dels=0.0;FS=2.968;HRun=0;HaplotypeScore=2.9495;MQ=59.1;MQ0=0;MQRankSum=-0.277;QD=9.3;ReadPosRankSum=0.216;SNPEFF_AMINO_ACID_CHANGE=P517;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_97607185_97607299;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRYBG3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000182096 GT:AD:DP:GQ:PL 0/1:56,32:88:99:848,0,1581
3 97611916 rs1506441 A C 348.24 PASS AB=0.548;AC=1;AF=0.50;AN=2;BaseQRankSum=0.218;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.25;MQ0=0;MQRankSum=-0.973;QD=11.23;ReadPosRankSum=0.139;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRYBG3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000182096 GT:AD:DP:GQ:PL 0/1:17,14:31:99:378,0,545
3 97619250 rs5851085 C CAACTA 1087.60 PASS AB=0.706;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.194;DB;DP=24;FS=0.0;HRun=0;HaplotypeScore=96.425;IndelType=I;MQ=55.2;MQ0=0;MQRankSum=-1.085;QD=45.32;ReadPosRankSum=-0.341;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRYBG3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000182096 GT:AD:DP:GQ:PL 0/1:14,9:24:99:1127,0,569
3 97634253 rs831877 C T 89.21 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.74;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRYBG3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000182096 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:121,9,0
3 97651774 rs9844662 A T 105.33 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.731;QD=21.07;ReadPosRankSum=0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRYBG3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000182096 GT:AD:DP:GQ:PL 0/1:1,4:5:27.18:135,0,27
3 97651884 rs4857298 A C 412.71 PASS AB=0.548;AC=1;AF=0.50;AN=2;BaseQRankSum=0.126;DB;DP=31;Dels=0.0;FS=2.483;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.963;QD=13.31;ReadPosRankSum=-0.502;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRYBG3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000182096 GT:AD:DP:GQ:PL 0/1:17,14:31:99:443,0,569
3 97659865 rs2201151 G T 226.04 PASS AB=0.385;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.524;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9998;MQ=60.0;MQ0=0;MQRankSum=-0.978;QD=17.39;ReadPosRankSum=0.437;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MINA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000333396 GT:AD:DP:GQ:PL 0/1:5,8:13:99:256,0,170
3 97660084 rs11544446 C T 891.82 PASS AB=0.595;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.799;DB;DP=79;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.399;MQ=59.71;MQ0=0;MQRankSum=-0.594;QD=11.29;ReadPosRankSum=-0.899;SNPEFF_AMINO_ACID_CHANGE=C124;SNPEFF_CODON_CHANGE=tgC/tgT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_97659992_97660105;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRYBG3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000495403 GT:AD:DP:GQ:PL 0/1:47,32:79:99:922,0,1551
3 97660106 rs4857302 A C 1678.82 PASS AB=0.386;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.444;DB;DP=88;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.74;MQ0=0;MQRankSum=0.613;QD=19.08;ReadPosRankSum=-0.204;SNPEFF_AMINO_ACID_CHANGE=N133H;SNPEFF_CODON_CHANGE=Aat/Cat;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_97659992_97660150;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRYBG3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000389622 GT:AD:DP:GQ:PL 0/1:34,54:88:99:1709,0,911
3 97660198 rs832089 A G 1834.12 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.65;MQ0=0;QD=34.61;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CRYBG3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000495403 GT:AD:DP:GQ:PL 1/1:0,53:53:99:1867,135,0
3 97664725 rs2172257 C T 645.72 PASS AB=0.361;AC=1;AF=0.50;AN=2;BaseQRankSum=1.252;DB;DP=36;Dels=0.0;FS=4.141;HRun=2;HaplotypeScore=0.9159;MQ=60.0;MQ0=0;MQRankSum=-0.033;QD=17.94;ReadPosRankSum=1.581;SNPEFF_AMINO_ACID_CHANGE=A132T;SNPEFF_CODON_CHANGE=Gct/Act;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_97664642_97664731;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MINA;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000442492 GT:AD:DP:GQ:PL 0/1:13,23:36:99:676,0,390
3 97673268 rs832079 A C 477.14 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.07;SNPEFF_AMINO_ACID_CHANGE=S251;SNPEFF_CODON_CHANGE=tcT/tcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_97673236_97673339;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MINA;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000330299 GT:AD:DP:GQ:PL 1/1:0,17:17:39.12:510,39,0
3 97705962 rs68016269 A AT 115.17 PASS AB=0.722;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.307;DB;DP=13;FS=0.0;HRun=7;HaplotypeScore=28.2976;IndelType=I;MQ=60.83;MQ0=0;MQRankSum=-0.729;QD=8.86;ReadPosRankSum=0.729;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=polymorphic_pseudogene;SNPEFF_GENE_NAME=GABRR3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472788 GT:AD:DP:GQ:PL 0/1:8,5:13:88.85:154,0,89
3 97720339 rs1688378 A G 353.49 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.14;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=polymorphic_pseudogene;SNPEFF_GENE_NAME=GABRR3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470589 GT:AD:DP:GQ:PL 1/1:0,11:11:33.09:386,33,0
3 97726747 rs832032 T A 134.43 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.61;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=polymorphic_pseudogene;SNPEFF_GENE_NAME=GABRR3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470589 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:167,12,0
3 97727727 rs832030 G C 215.52 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.62;MQ0=0;QD=30.79;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=polymorphic_pseudogene;SNPEFF_GENE_NAME=GABRR3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470589 GT:AD:DP:GQ:PL 1/1:0,7:7:18.06:248,18,0
3 97727753 rs832029 G A 327.96 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.44;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=polymorphic_pseudogene;SNPEFF_GENE_NAME=GABRR3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470589 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:361,27,0
3 97731434 rs67802518 C CA 934.82 PASS AC=2;AF=1.00;AN=2;DB;DP=30;FS=0.0;HRun=7;HaplotypeScore=61.0591;IndelType=I;MQ=59.96;MQ0=0;QD=31.16;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=polymorphic_pseudogene;SNPEFF_GENE_NAME=GABRR3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470589 GT:AD:DP:GQ:PL 1/1:3,27:30:81.25:977,81,0
3 97753931 rs832070 T C 156.96 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.39;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=polymorphic_pseudogene;SNPEFF_GENE_NAME=GABRR3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470589 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:190,15,0
3 97805884 rs61357644 T C 290.80 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.31;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR5AC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358642 GT:AD:DP:GQ:PL 1/1:0,9:9:24.08:324,24,0
3 97805954 rs13082722 T C 1495.40 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.38;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR5AC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358642 GT:AD:DP:GQ:PL 1/1:0,40:40:99:1528,114,0
3 97806616 rs4518168 G A 1735.35 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.15;SNPEFF_AMINO_ACID_CHANGE=M200I;SNPEFF_CODON_CHANGE=atG/atA;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_97806017_97806946;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR5AC2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000358642 GT:AD:DP:GQ:PL 1/1:0,48:48:99:1768,132,0
3 97806999 rs6439602 T C 175.14 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.19;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR5AC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358642 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:208,15,0
3 97851475 rs4857328 G C 522.59 PASS AB=0.452;AC=1;AF=0.50;AN=2;BaseQRankSum=0.814;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.5113;MQ=49.06;MQ0=0;MQRankSum=-0.337;QD=16.86;ReadPosRankSum=-0.496;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR5H1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354565 GT:AD:DP:GQ:PL 0/1:14,17:31:99:553,0,481
3 97851998 rs9845327 A C 549.98 PASS AB=0.548;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.003;DB;DP=126;Dels=0.01;FS=10.082;HRun=0;HaplotypeScore=2.4637;MQ=41.68;MQ0=19;MQRankSum=-6.947;QD=4.33;ReadPosRankSum=-1.814;SNPEFF_AMINO_ACID_CHANGE=I153L;SNPEFF_CODON_CHANGE=Att/Ctt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_97851542_97852483;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR5H1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000354565 GT:AD:DP:GQ:PL 0/1:69,57:126:99:580,0,2124
3 97852083 rs9826076 C T 197.07 MQFilter40 AB=0.595;AC=1;AF=0.50;AN=2;BaseQRankSum=1.514;DB;DP=79;Dels=0.0;FS=3.402;HRun=1;HaplotypeScore=0.0;MQ=26.81;MQ0=26;MQRankSum=-3.844;QD=2.49;ReadPosRankSum=-1.128;SNPEFF_AMINO_ACID_CHANGE=T181I;SNPEFF_CODON_CHANGE=aCt/aTt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_97851542_97852483;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR5H1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000354565 GT:AD:DP:GQ:PL 0/1:47,32:79:99:227,0,1038
3 97852229 rs9849637 T A 775.05 PASS AB=0.508;AC=1;AF=0.50;AN=2;BaseQRankSum=2.07;DB;DP=59;Dels=0.0;FS=1.129;HRun=3;HaplotypeScore=1.8055;MQ=58.35;MQ0=0;MQRankSum=1.782;QD=12.92;ReadPosRankSum=0.417;SNPEFF_AMINO_ACID_CHANGE=S230T;SNPEFF_CODON_CHANGE=Tct/Act;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_97851542_97852483;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR5H1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000354565 GT:AD:DP:GQ:PL 0/1:30,29:59:99:805,0,925
3 97852291 rs112819024 A G 1164.23 PASS AB=0.589;AC=1;AF=0.50;AN=2;BaseQRankSum=3.226;DB;DP=91;Dels=0.0;FS=6.024;HRun=0;HaplotypeScore=4.189;MQ=59.38;MQ0=0;MQRankSum=-1.336;QD=12.79;ReadPosRankSum=1.786;SNPEFF_AMINO_ACID_CHANGE=L250;SNPEFF_CODON_CHANGE=ttA/ttG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_97851542_97852483;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR5H1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000354565 GT:AD:DP:GQ:PL 0/1:53,37:91:99:1194,0,1666
3 97868174 rs4857075 T G 745.71 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.363;DB;DP=52;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=47.29;MQ0=0;MQRankSum=2.553;QD=14.34;ReadPosRankSum=0.467;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_3_97868170_97869249;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR5H14;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000437310 GT:AD:DP:GQ:PL 0/1:26,26:52:99:776,0,807
3 97868419 rs4241468 G A 3219.44 PASS AB=0.506;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.419;DB;DP=238;Dels=0.0;FS=18.922;HRun=0;HaplotypeScore=5.2685;MQ=52.94;MQ0=1;MQRankSum=-2.2;QD=13.53;ReadPosRankSum=-0.266;SNPEFF_AMINO_ACID_CHANGE=G64R;SNPEFF_CODON_CHANGE=Ggg/Agg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_97868170_97869249;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR5H14;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000437310 GT:AD:DP:GQ:PL 0/1:120,117:238:99:3249,0,3618
3 97868616 rs4379004 C T 1425.93 PASS AB=0.509;AC=1;AF=0.50;AN=2;BaseQRankSum=4.653;DB;DP=163;Dels=0.0;FS=1.417;HRun=2;HaplotypeScore=0.5784;MQ=47.37;MQ0=11;MQRankSum=-9.771;QD=8.75;ReadPosRankSum=0.237;SNPEFF_AMINO_ACID_CHANGE=P129;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_97868170_97869249;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR5H14;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000437310 GT:AD:DP:GQ:PL 0/1:83,80:163:99:1456,0,2365
3 97868795 rs4857076 A G 1403.03 PASS AB=0.457;AC=1;AF=0.50;AN=2;BaseQRankSum=2.157;DB;DP=81;Dels=0.0;FS=3.234;HRun=0;HaplotypeScore=0.0;MQ=57.7;MQ0=0;MQRankSum=0.337;QD=17.32;ReadPosRankSum=-0.773;SNPEFF_AMINO_ACID_CHANGE=Y189C;SNPEFF_CODON_CHANGE=tAt/tGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_97868170_97869249;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR5H14;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000437310 GT:AD:DP:GQ:PL 0/1:37,44:81:99:1433,0,1134
3 97868970 rs12639519 T A 759.28 PASS AB=0.528;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.007;DB;DP=53;Dels=0.0;FS=1.077;HRun=0;HaplotypeScore=6.7766;MQ=56.46;MQ0=0;MQRankSum=0.401;QD=14.33;ReadPosRankSum=0.864;SNPEFF_AMINO_ACID_CHANGE=S247;SNPEFF_CODON_CHANGE=tcT/tcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_97868170_97869249;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR5H14;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000437310 GT:AD:DP:GQ:PL 0/1:28,25:53:99:789,0,874
3 97887495 rs10212222 C G 379.15 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.913;DB;DP=44;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=46.87;MQ0=3;MQRankSum=-3.718;QD=8.62;ReadPosRankSum=0.304;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR5H15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356526 GT:AD:DP:GQ:PL 0/1:24,20:44:99:409,0,886
3 97887865 rs4133320 G A 2656.76 PASS AB=0.466;AC=1;AF=0.50;AN=2;BaseQRankSum=4.244;DB;DP=179;Dels=0.0;FS=0.56;HRun=0;HaplotypeScore=6.045;MQ=51.96;MQ0=0;MQRankSum=-0.16;QD=14.84;ReadPosRankSum=-0.536;SNPEFF_AMINO_ACID_CHANGE=V108I;SNPEFF_CODON_CHANGE=Gta/Ata;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_97887544_97888485;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR5H15;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000356526 GT:AD:DP:GQ:PL 0/1:83,95:179:99:2687,0,2384
3 97887985 rs4133321 T A 1348.11 PASS AB=0.52;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.596;DB;DP=99;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9916;MQ=53.37;MQ0=0;MQRankSum=0.776;QD=13.62;ReadPosRankSum=0.928;SNPEFF_AMINO_ACID_CHANGE=S148T;SNPEFF_CODON_CHANGE=Tca/Aca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_97887544_97888485;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR5H15;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000356526 GT:AD:DP:GQ:PL 0/1:51,47:99:99:1378,0,1539
3 97888042 rs4133322 A T 940.78 PASS AB=0.549;AC=1;AF=0.50;AN=2;BaseQRankSum=2.222;DB;DP=92;Dels=0.0;FS=4.723;HRun=0;HaplotypeScore=1.6553;MQ=41.8;MQ0=16;MQRankSum=-2.837;QD=10.23;ReadPosRankSum=0.652;SNPEFF_AMINO_ACID_CHANGE=T167S;SNPEFF_CODON_CHANGE=Acc/Tcc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_97887544_97888485;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR5H15;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000356526 GT:AD:DP:GQ:PL 0/1:50,41:92:99:971,0,1170
3 97888177 rs148481518 G A 753.78 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.555;DB;DP=42;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=50.63;MQ0=3;MQRankSum=1.804;QD=17.95;ReadPosRankSum=-0.072;SNPEFF_AMINO_ACID_CHANGE=V212M;SNPEFF_CODON_CHANGE=Gtg/Atg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_97887544_97888485;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR5H15;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000356526 GT:AD:DP:GQ:PL 0/1:18,24:42:99:784,0,457
3 97888197 rs7623031 C T 496.72 PASS AB=0.609;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.776;DB;DP=46;Dels=0.0;FS=2.638;HRun=0;HaplotypeScore=0.0;MQ=54.83;MQ0=0;MQRankSum=-0.704;QD=10.8;ReadPosRankSum=-0.609;SNPEFF_AMINO_ACID_CHANGE=Y218;SNPEFF_CODON_CHANGE=taC/taT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_97887544_97888485;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR5H15;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000356526 GT:AD:DP:GQ:PL 0/1:28,18:46:99:527,0,907
3 97888337 rs13082608 C T 913.20 PASS AB=0.515;AC=1;AF=0.50;AN=2;BaseQRankSum=1.4;DB;DP=68;Dels=0.0;FS=10.821;HRun=0;HaplotypeScore=0.9998;MQ=59.17;MQ0=0;MQRankSum=0.559;QD=13.43;ReadPosRankSum=1.249;SNPEFF_AMINO_ACID_CHANGE=P265L;SNPEFF_CODON_CHANGE=cCg/cTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_97887544_97888485;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR5H15;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000356526 GT:AD:DP:GQ:PL 0/1:35,33:68:99:943,0,1020
3 97926221 rs7430016 T C 389.09 PASS AB=0.596;AC=1;AF=0.50;AN=2;BaseQRankSum=2.78;DB;DP=47;Dels=0.0;FS=2.665;HRun=2;HaplotypeScore=0.0;MQ=52.63;MQ0=1;MQRankSum=-4.76;QD=8.28;ReadPosRankSum=0.214;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=OR5H3P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000502817 GT:AD:DP:GQ:PL 0/1:28,19:47:99:419,0,934
3 97926354 rs9837299 A G 1785.28 PASS AB=0.537;AC=1;AF=0.50;AN=2;BaseQRankSum=3.181;DB;DP=177;Dels=0.0;FS=27.228;HRun=1;HaplotypeScore=1.6809;MQ=47.15;MQ0=10;MQRankSum=-11.053;QD=10.09;ReadPosRankSum=1.808;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=OR5H3P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000502817 GT:AD:DP:GQ:PL 0/1:95,82:177:99:1815,0,2917
3 97926625 rs9837684 A G 797.36 PASS AB=0.689;AC=1;AF=0.50;AN=2;BaseQRankSum=3.52;DB;DP=90;Dels=0.0;FS=4.434;HRun=0;HaplotypeScore=0.5784;MQ=55.54;MQ0=1;MQRankSum=-2.436;QD=8.86;ReadPosRankSum=0.538;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=OR5H3P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000502817 GT:AD:DP:GQ:PL 0/1:62,28:90:99:827,0,1720
3 97926693 rs9818544 C T 181.14 PASS AB=0.794;AC=1;AF=0.50;AN=2;BaseQRankSum=3.046;DB;DP=68;Dels=0.0;FS=1.337;HRun=0;HaplotypeScore=9.9054;MQ=51.92;MQ0=1;MQRankSum=-5.652;QD=2.66;ReadPosRankSum=-0.147;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=OR5H3P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000502817 GT:AD:DP:GQ:PL 0/1:54,14:68:99:211,0,1638
3 97926696 . C CTATTAATCTTGTCA 2506.88 PASS AB=0.854;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.534;DP=69;FS=1.372;HRun=0;HaplotypeScore=710.4562;IndelType=I;MQ=52.82;MQ0=1;MQRankSum=-4.294;QD=35.81;ReadPosRankSum=1.106;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=OR5H3P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000502817 GT:AD:DP:GQ:PL 0/1:58,10:69:99:2546,0,5871
3 97957115 rs13100993 T C 332.89 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=2.135;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.46;MQ0=0;MQRankSum=0.026;QD=12.33;ReadPosRankSum=-0.797;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RP11-325B23.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000508616 GT:AD:DP:GQ:PL 0/1:15,12:27:99:363,0,499
3 97957349 rs6439722 G A 2579.07 PASS AB=0.513;AC=1;AF=0.50;AN=2;BaseQRankSum=1.791;DB;DP=197;Dels=0.0;FS=6.003;HRun=3;HaplotypeScore=5.6294;MQ=59.45;MQ0=0;MQRankSum=-0.161;QD=13.09;ReadPosRankSum=-0.65;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=OR5H7P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000514084 GT:AD:DP:GQ:PL 0/1:101,96:197:99:2609,0,3129
3 97957490 rs6439724 G A 2800.22 PASS AB=0.464;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.975;DB;DP=168;Dels=0.0;FS=6.667;HRun=0;HaplotypeScore=0.5784;MQ=59.85;MQ0=0;MQRankSum=-0.08;QD=16.67;ReadPosRankSum=-1.168;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=OR5H7P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000514084 GT:AD:DP:GQ:PL 0/1:77,89:168:99:2830,0,2238
3 97957539 rs6439725 C T 2364.25 PASS AB=0.49;AC=1;AF=0.50;AN=2;BaseQRankSum=2.34;DB;DP=145;Dels=0.0;FS=0.62;HRun=1;HaplotypeScore=0.9973;MQ=59.87;MQ0=0;MQRankSum=0.329;QD=16.31;ReadPosRankSum=1.27;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=OR5H7P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000514084 GT:AD:DP:GQ:PL 0/1:71,74:145:99:2394,0,2090
3 97958054 rs9851509 T C 918.27 PASS AB=0.568;AC=1;AF=0.50;AN=2;BaseQRankSum=1.717;DB;DP=81;Dels=0.0;FS=0.886;HRun=2;HaplotypeScore=0.0;MQ=55.67;MQ0=0;MQRankSum=-3.666;QD=11.34;ReadPosRankSum=-0.155;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=OR5H7P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000514084 GT:AD:DP:GQ:PL 0/1:46,35:81:99:948,0,1516
3 97958253 rs9847708 A G 117.51 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.731;QD=23.5;ReadPosRankSum=-0.731;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=OR5H7P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000514084 GT:AD:DP:GQ:PL 0/1:1,4:5:26.71:147,0,27
3 97958280 rs9828347 C T 39.61 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=13.2;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=OR5H7P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000514084 GT:AD:DP:GQ:PL 0/1:1,2:3:33.20:70,0,33
3 97983257 rs2132894 C G 2322.84 PASS AB=0.503;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.459;DB;DP=165;Dels=0.0;FS=1.288;HRun=0;HaplotypeScore=1.57;MQ=58.38;MQ0=0;MQRankSum=-2.25;QD=14.08;ReadPosRankSum=-1.312;SNPEFF_AMINO_ACID_CHANGE=L43;SNPEFF_CODON_CHANGE=ctC/ctG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_97983088_97984200;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR5H6;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000383696 GT:AD:DP:GQ:PL 0/1:83,82:165:99:2353,0,2754
3 97983391 rs2173236 C T 2585.77 PASS AB=0.522;AC=1;AF=0.50;AN=2;BaseQRankSum=5.05;DB;DP=208;Dels=0.0;FS=6.23;HRun=2;HaplotypeScore=3.4509;MQ=57.07;MQ0=0;MQRankSum=-0.562;QD=12.43;ReadPosRankSum=0.487;SNPEFF_AMINO_ACID_CHANGE=S88L;SNPEFF_CODON_CHANGE=tCg/tTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_97983088_97984200;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR5H6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000383696 GT:AD:DP:GQ:PL 0/1:108,99:208:99:2616,0,3127
3 97983487 rs139831483 TTGTAACCAC T 3101.98 PASS AB=0.776;AC=1;AF=0.50;AN=2;BaseQRankSum=7.936;DB;DP=138;FS=1.674;HRun=0;HaplotypeScore=1130.3151;IndelType=D;MQ=49.94;MQ0=0;MQRankSum=-7.962;QD=21.84;ReadPosRankSum=0.57;SNPEFF_AMINO_ACID_CHANGE=LVTT120L;SNPEFF_CODON_CHANGE=cttgtaaccact/ctt;SNPEFF_EFFECT=CODON_DELETION;SNPEFF_EXON_ID=exon_3_97983088_97984200;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR5H6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000383696 GT:AD:DP:GQ:PL 0/1:101,41:138:99:3141,0,8884
3 97983561 rs9289564 G C 1524.26 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.15;DB;DP=135;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=5.6751;MQ=54.0;MQ0=0;MQRankSum=-3.04;QD=11.29;ReadPosRankSum=-0.069;SNPEFF_AMINO_ACID_CHANGE=A145P;SNPEFF_CODON_CHANGE=Gct/Cct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_97983088_97984200;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR5H6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000383696 GT:AD:DP:GQ:PL 0/1:75,60:135:99:1554,0,2358
3 97983711 rs9853887 T C 1811.80 PASS AB=0.55;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.502;DB;DP=151;Dels=0.0;FS=0.61;HRun=1;HaplotypeScore=0.9983;MQ=59.39;MQ0=0;MQRankSum=0.738;QD=12.0;ReadPosRankSum=-1.206;SNPEFF_AMINO_ACID_CHANGE=C195R;SNPEFF_CODON_CHANGE=Tgt/Cgt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_97983088_97984200;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR5H6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000383696 GT:AD:DP:GQ:PL 0/1:83,68:151:99:1842,0,2614
3 97983942 rs9853906 A G 986.15 PASS AB=0.507;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.489;DB;DP=73;Dels=0.0;FS=8.229;HRun=0;HaplotypeScore=0.0;MQ=58.59;MQ0=0;MQRankSum=0.328;QD=13.51;ReadPosRankSum=1.42;SNPEFF_AMINO_ACID_CHANGE=T272A;SNPEFF_CODON_CHANGE=Acc/Gcc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_97983088_97984200;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR5H6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000383696 GT:AD:DP:GQ:PL 0/1:37,36:73:99:1016,0,1124
3 97983981 rs9871143 G A 955.30 PASS AB=0.539;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.354;DB;DP=76;Dels=0.0;FS=1.931;HRun=1;HaplotypeScore=1.7323;MQ=56.74;MQ0=1;MQRankSum=0.727;QD=12.57;ReadPosRankSum=-1.598;SNPEFF_AMINO_ACID_CHANGE=D285N;SNPEFF_CODON_CHANGE=Gac/Aac;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_97983088_97984200;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR5H6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000383696 GT:AD:DP:GQ:PL 0/1:41,35:76:99:985,0,1304
3 98001676 rs16839610 T C 546.08 PASS AB=0.611;AC=1;AF=0.50;AN=2;BaseQRankSum=0.882;DB;DP=54;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.118;QD=10.11;ReadPosRankSum=-0.791;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR5H2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355273 GT:AD:DP:GQ:PL 0/1:33,21:54:99:576,0,1104
3 98001777 rs72487753 G C 1319.69 PASS AB=0.603;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.941;DB;DP=116;Dels=0.0;FS=3.61;HRun=0;HaplotypeScore=3.7198;MQ=59.8;MQ0=0;MQRankSum=0.818;QD=11.38;ReadPosRankSum=-0.259;SNPEFF_AMINO_ACID_CHANGE=E16Q;SNPEFF_CODON_CHANGE=Gag/Cag;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_98001732_98002676;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR5H2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000355273 GT:AD:DP:GQ:PL 0/1:70,46:116:99:1350,0,2373
3 98002419 rs16839214 A G 770.03 PASS AB=0.542;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.146;DB;DP=59;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.61;MQ0=0;MQRankSum=1.306;QD=13.05;ReadPosRankSum=1.081;SNPEFF_AMINO_ACID_CHANGE=I230V;SNPEFF_CODON_CHANGE=Atc/Gtc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_98001732_98002676;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR5H2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000355273 GT:AD:DP:GQ:PL 0/1:32,27:59:99:800,0,1061
3 98002587 rs16839611 A G 625.62 PASS AB=0.45;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.134;DB;DP=40;Dels=0.0;FS=1.243;HRun=0;HaplotypeScore=0.0;MQ=59.42;MQ0=0;MQRankSum=-1.101;QD=15.64;ReadPosRankSum=0.041;SNPEFF_AMINO_ACID_CHANGE=I286V;SNPEFF_CODON_CHANGE=Ata/Gta;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_98001732_98002676;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR5H2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000355273 GT:AD:DP:GQ:PL 0/1:18,22:40:99:656,0,509
3 98073044 rs185693146 C A 1985.39 PASS AB=0.549;AC=1;AF=0.50;AN=2;BaseQRankSum=5.829;DB;DP=145;Dels=0.0;FS=1.435;HRun=0;HaplotypeScore=0.9578;MQ=59.84;MQ0=0;MQRankSum=-0.126;QD=13.69;ReadPosRankSum=1.249;SNPEFF_AMINO_ACID_CHANGE=A116E;SNPEFF_CODON_CHANGE=gCg/gAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_98072698_98073663;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR5K4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000354924 GT:AD:DP:GQ:PL 0/1:79,65:145:99:2015,0,2072
3 98073591 rs11288615 TA T 1751.86 PASS AB=0.693;AC=1;AF=0.50;AN=2;BaseQRankSum=7.75;DB;DP=167;DS;FS=2.681;HRun=7;HaplotypeScore=412.2145;IndelType=D;MQ=60.05;MQ0=0;MQRankSum=0.391;QD=10.49;ReadPosRankSum=0.521;SNPEFF_EFFECT=FRAME_SHIFT;SNPEFF_EXON_ID=exon_3_98072698_98073663;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR5K4;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000354924 GT:AD:DP:GQ:PL 0/1:93,74:167:99:1791,0,2291
3 98110406 rs145803525 G GA 954.26 PASS AB=0.673;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.662;DB;DP=68;FS=3.715;HRun=7;HaplotypeScore=154.851;IndelType=I;MQ=60.32;MQ0=0;MQRankSum=1.85;QD=14.03;ReadPosRankSum=0.408;SNPEFF_EFFECT=FRAME_SHIFT;SNPEFF_EXON_ID=exon_3_98109510_98110475;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OR5K3;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000383695 GT:AD:DP:GQ:PL 0/1:35,33:68:99:993,0,783
3 98250986 rs2230344 C T 392.65 PASS AB=0.595;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.51;DB;DP=37;Dels=0.0;FS=1.32;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.036;QD=10.61;ReadPosRankSum=-0.17;SNPEFF_AMINO_ACID_CHANGE=P37S;SNPEFF_CODON_CHANGE=Cca/Tca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_98250743_98251960;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR15;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000284311 GT:AD:DP:GQ:PL 0/1:22,15:37:99:423,0,695
3 98251207 rs146422549 C A 756.59 PASS AB=0.409;AC=1;AF=0.50;AN=2;BaseQRankSum=1.489;DB;DP=44;Dels=0.0;FS=1.232;HRun=0;HaplotypeScore=0.9789;MQ=58.95;MQ0=0;MQRankSum=-1.046;QD=17.2;ReadPosRankSum=-0.849;SNPEFF_AMINO_ACID_CHANGE=S110;SNPEFF_CODON_CHANGE=tcC/tcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_98250743_98251960;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR15;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000284311 GT:AD:DP:GQ:PL 0/1:18,26:44:99:787,0,563
3 98252027 rs1529047 G A 426.25 PASS AB=0.227;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.47;DB;DP=22;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.88;QD=19.38;ReadPosRankSum=-1.097;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284311 GT:AD:DP:GQ:PL 0/1:5,17:22:99:456,0,153
3 98307630 rs75450904 C T 577.35 PASS AB=0.565;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.002;DB;DP=46;Dels=0.0;FS=4.112;HRun=0;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=1.141;QD=12.55;ReadPosRankSum=-1.053;SNPEFF_AMINO_ACID_CHANGE=V294I;SNPEFF_CODON_CHANGE=Gtc/Atc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_98307557_98307698;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CPOX;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000264193 GT:AD:DP:GQ:PL 0/1:26,20:46:99:607,0,840
3 98489686 rs1440153 A G 499.45 PASS AB=0.535;AC=1;AF=0.50;AN=2;BaseQRankSum=0.239;DB;DP=43;Dels=0.0;FS=1.321;HRun=1;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=-1.876;QD=11.62;ReadPosRankSum=-1.247;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ST3GAL6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265261 GT:AD:DP:GQ:PL 0/1:23,20:43:99:529,0,703
3 98491619 rs2334230 G T 593.70 PASS AB=0.31;AC=1;AF=0.50;AN=2;BaseQRankSum=2.192;DB;DP=29;Dels=0.0;FS=2.708;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.024;QD=20.47;ReadPosRankSum=-0.589;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ST3GAL6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000480133 GT:AD:DP:GQ:PL 0/1:9,20:29:99:624,0,233
3 98503683 rs704585 C T 286.89 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.298;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.45;MQ0=0;MQRankSum=1.355;QD=19.13;ReadPosRankSum=-0.295;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ST3GAL6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466482 GT:AD:DP:GQ:PL 0/1:6,9:15:99:317,0,198
3 98503776 rs999147 A G 627.74 PASS AB=0.612;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.019;DB;DP=67;Dels=0.0;FS=7.093;HRun=0;HaplotypeScore=0.0;MQ=59.38;MQ0=0;MQRankSum=0.806;QD=9.37;ReadPosRankSum=-0.264;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ST3GAL6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466482 GT:AD:DP:GQ:PL 0/1:41,26:67:99:658,0,1300
3 98503941 rs62278486 G A 270.44 PASS AB=0.357;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.8;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.533;QD=19.32;ReadPosRankSum=0.8;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ST3GAL6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460774 GT:AD:DP:GQ:PL 0/1:5,9:14:99:300,0,168
3 98503993 rs73136045 T G 58.50 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.219;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.729;QD=6.5;ReadPosRankSum=0.361;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ST3GAL6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460774 GT:AD:DP:GQ:PL 0/1:5,4:9:88.49:88,0,186
3 98507134 rs73136057 C A 916.48 PASS AB=0.492;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.431;DB;DP=61;Dels=0.0;FS=1.122;HRun=0;HaplotypeScore=1.8932;MQ=59.62;MQ0=0;MQRankSum=0.195;QD=15.02;ReadPosRankSum=-0.166;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ST3GAL6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460774 GT:AD:DP:GQ:PL 0/1:30,31:61:99:946,0,976
3 98518072 rs17270986 A G 207.87 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=0.471;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.33;MQ0=0;MQRankSum=0.471;QD=14.85;ReadPosRankSum=1.625;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DCBLD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000494614 GT:AD:DP:GQ:PL 0/1:6,8:14:99:238,0,191
3 98518160 rs113737993 T TAA 1823.41 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.75;DB;DP=78;FS=8.813;HRun=10;HaplotypeScore=402.1144;IndelType=I;MQ=59.2;MQ0=0;MQRankSum=1.117;QD=23.38;ReadPosRankSum=0.817;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DCBLD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000494614 GT:AD:DP:GQ:PL 1/1:13,32:78:99:1865,167,0
3 98518806 rs1866679 A G 478.84 PASS AB=0.531;AC=1;AF=0.50;AN=2;BaseQRankSum=1.737;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.491;QD=14.51;ReadPosRankSum=-1.246;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DCBLD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000494614 GT:AD:DP:GQ:PL 0/1:17,15:33:99:509,0,601
3 98519481 rs1822017 G A 1987.80 PASS AB=0.581;AC=1;AF=0.50;AN=2;BaseQRankSum=0.756;DB;DP=169;Dels=0.0;FS=8.243;HRun=0;HaplotypeScore=2.6386;MQ=59.18;MQ0=0;MQRankSum=-2.805;QD=11.69;ReadPosRankSum=1.445;SNPEFF_AMINO_ACID_CHANGE=S600;SNPEFF_CODON_CHANGE=agC/agT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_98519423_98519560;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DCBLD2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000326840 GT:AD:DP:GQ:PL 0/1:97,70:169:99:2018,0,3011
3 98519697 rs11374885 C CT 42.04 QDFilter2 AB=0.778;AC=1;AF=0.50;AN=2;BaseQRankSum=1.532;DB;DP=28;FS=0.0;HRun=16;HaplotypeScore=266.4974;IndelType=I;MQ=51.13;MQ0=0;MQRankSum=-0.387;QD=1.5;ReadPosRankSum=-2.181;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DCBLD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000494614 GT:AD:DP:GQ:PL 0/1:20,6:28:52.31:81,0,52
3 98520602 rs9860216 A G 411.53 PASS AB=0.48;AC=1;AF=0.50;AN=2;BaseQRankSum=1.006;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.32;MQ0=0;MQRankSum=-0.299;QD=16.46;ReadPosRankSum=0.408;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DCBLD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326840 GT:AD:DP:GQ:PL 0/1:12,13:25:99:442,0,421
3 98531001 rs10612322 ATAAC A 354.57 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=3.308;DB;DP=16;FS=0.0;HRun=0;HaplotypeScore=72.4146;IndelType=D;MQ=53.95;MQ0=0;MQRankSum=-1.208;QD=22.16;ReadPosRankSum=1.313;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DCBLD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460008 GT:AD:DP:GQ:PL 0/1:8,8:16:99:394,0,585
3 98531342 rs9814819 A G 606.07 PASS AB=0.508;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.021;DB;DP=66;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.581;MQ=59.3;MQ0=0;MQRankSum=-0.089;QD=9.18;ReadPosRankSum=-1.547;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DCBLD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326840 GT:AD:DP:GQ:PL 0/1:33,32:66:99:636,0,1018
3 98531446 rs278378 T C 413.73 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.61;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DCBLD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326840 GT:AD:DP:GQ:PL 1/1:0,11:11:33.11:447,33,0
3 98536571 rs1440150 T C 1596.96 PASS AB=0.561;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.348;DB;DP=123;Dels=0.0;FS=6.243;HRun=0;HaplotypeScore=0.0;MQ=59.66;MQ0=0;MQRankSum=-2.178;QD=12.98;ReadPosRankSum=0.198;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DCBLD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469648 GT:AD:DP:GQ:PL 0/1:69,54:123:99:1627,0,2101
3 98536990 rs9873932 C T 114.01 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=1.754;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9867;MQ=60.0;MQ0=0;MQRankSum=1.754;QD=16.29;ReadPosRankSum=1.3;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DCBLD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469648 GT:AD:DP:GQ:PL 0/1:3,4:7:79.92:144,0,80
3 98537835 rs9823430 T C 40.14 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.07;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DCBLD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469648 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:71,6,0
3 98540820 rs2922213 A G 320.69 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.63;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DCBLD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469648 GT:AD:DP:GQ:PL 1/1:0,9:9:27.08:354,27,0
3 98540866 rs7644946 G A 171.59 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.027;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.068;QD=12.26;ReadPosRankSum=-0.663;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DCBLD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469648 GT:AD:DP:GQ:PL 0/1:7,7:14:99:202,0,251
3 98540931 rs9843214 T C 736.37 PASS AB=0.51;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.31;DB;DP=51;Dels=0.0;FS=7.414;HRun=0;HaplotypeScore=0.0;MQ=59.63;MQ0=0;MQRankSum=-0.291;QD=14.44;ReadPosRankSum=-0.136;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DCBLD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469648 GT:AD:DP:GQ:PL 0/1:26,25:51:99:766,0,847
3 98541012 rs866873 G A 2497.59 PASS AC=2;AF=1.00;AN=2;DB;DP=70;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.4;MQ0=0;QD=35.68;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DCBLD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469648 GT:AD:DP:GQ:PL 1/1:0,70:70:99:2531,184,0
3 98541799 rs828619 A C 42.07 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.03;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DCBLD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000486004 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:73,6,0
3 98544304 rs73138004 T C 162.33 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=2.037;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=53.36;MQ0=0;MQRankSum=-0.278;QD=14.76;ReadPosRankSum=-0.597;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ST3GAL6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491912 GT:AD:DP:GQ:PL 0/1:4,7:11:99:192,0,125
3 98619997 rs17852693 G C 55.33 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.231;QD=11.07;ReadPosRankSum=0.358;SNPEFF_AMINO_ACID_CHANGE=L12;SNPEFF_CODON_CHANGE=ctC/ctG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_98619966_98620533;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DCBLD2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000404023 GT:AD:DP:GQ:PL 0/1:2,3:5:32.76:85,0,33
3 99513495 rs138724036 G A 723.10 PASS AB=0.575;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.216;DB;DP=73;Dels=0.0;FS=6.601;HRun=0;HaplotypeScore=0.9159;MQ=60.0;MQ0=0;MQRankSum=-0.25;QD=9.91;ReadPosRankSum=-1.193;SNPEFF_AMINO_ACID_CHANGE=A250;SNPEFF_CODON_CHANGE=gcG/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_99513074_99518070;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL8A1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000261037 GT:AD:DP:GQ:PL 0/1:42,31:73:99:753,0,1233
3 99643176 rs793440 C T 1597.52 PASS AB=0.532;AC=1;AF=0.50;AN=2;BaseQRankSum=4.698;DB;DP=127;Dels=0.0;FS=0.676;HRun=0;HaplotypeScore=5.3156;MQ=59.27;MQ0=0;MQRankSum=-1.183;QD=12.58;ReadPosRankSum=-0.445;SNPEFF_AMINO_ACID_CHANGE=R168H;SNPEFF_CODON_CHANGE=cGt/cAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_99643074_99643252;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FILIP1L;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000331335 GT:AD:DP:GQ:PL 0/1:67,59:127:99:1628,0,2005
3 99886662 rs11537816 G A 1191.07 PASS AB=0.494;AC=1;AF=0.50;AN=2;BaseQRankSum=1.014;DB;DP=77;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.2604;MQ=59.7;MQ0=0;MQRankSum=0.81;QD=15.47;ReadPosRankSum=0.311;SNPEFF_AMINO_ACID_CHANGE=V122I;SNPEFF_CODON_CHANGE=Gtc/Atc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_99886582_99886684;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf26;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000478909 GT:AD:DP:GQ:PL 0/1:38,39:77:99:1221,0,1082
3 99890783 rs192171324 G A 304.86 PASS AB=0.56;AC=1;AF=0.50;AN=2;BaseQRankSum=0.903;DB;DP=25;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.341;QD=12.19;ReadPosRankSum=0.356;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf26;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000421999 GT:AD:DP:GQ:PL 0/1:14,11:25:99:335,0,442
3 100015146 rs3772698 G T 559.23 PASS AB=0.629;AC=1;AF=0.50;AN=2;BaseQRankSum=3.177;DB;DP=62;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.6498;MQ=59.63;MQ0=0;MQRankSum=-0.864;QD=9.02;ReadPosRankSum=2.17;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TBC1D23;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344949 GT:AD:DP:GQ:PL 0/1:39,23:62:99:589,0,1298
3 100015166 rs3772697 C T 345.69 PASS AB=0.614;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.193;DB;DP=44;Dels=0.0;FS=5.427;HRun=0;HaplotypeScore=0.9665;MQ=59.48;MQ0=0;MQRankSum=0.791;QD=7.86;ReadPosRankSum=-0.138;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TBC1D23;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344949 GT:AD:DP:GQ:PL 0/1:27,17:44:99:376,0,981
3 100016726 rs3832199 A AT 287.65 PASS AB=0.674;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.534;DB;DP=29;FS=0.0;HRun=10;HaplotypeScore=64.0284;IndelType=I;MQ=60.37;MQ0=0;MQRankSum=1.159;QD=9.92;ReadPosRankSum=-1.448;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TBC1D23;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344949 GT:AD:DP:GQ:PL 0/1:15,13:29:99:327,0,199
3 100029173 rs4928168 A G 507.33 PASS AB=0.438;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.476;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9075;MQ=60.0;MQ0=0;MQRankSum=1.045;QD=15.85;ReadPosRankSum=-0.095;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TBC1D23;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344949 GT:AD:DP:GQ:PL 0/1:14,18:32:99:537,0,436
3 100030628 rs78488980 A AT 890.49 PASS AB=0.697;AC=1;AF=0.50;AN=2;BaseQRankSum=-6.404;DB;DP=76;FS=0.0;HRun=8;HaplotypeScore=164.8638;IndelType=I;MQ=60.28;MQ0=0;MQRankSum=0.501;QD=11.72;ReadPosRankSum=0.271;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TBC1D23;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000496167 GT:AD:DP:GQ:PL 0/1:43,33:76:99:930,0,830
3 100034849 rs4928169 A T 74.18 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=0.778;DB;DP=14;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.354;QD=5.3;ReadPosRankSum=-0.919;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TBC1D23;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344949 GT:AD:DP:GQ:PL 0/1:10,4:14:99:104,0,352
3 100037795 rs1214369 G C 142.47 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=1.495;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.198;QD=20.35;ReadPosRankSum=1.495;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TBC1D23;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344949 GT:AD:DP:GQ:PL 0/1:2,5:7:60.70:172,0,61
3 100053684 rs3830303 C CG 91.71 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.922;DB;DP=10;FS=0.0;HRun=5;HaplotypeScore=39.5287;IndelType=I;MQ=61.07;MQ0=0;MQRankSum=0.922;QD=9.17;ReadPosRankSum=-0.922;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NIT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000394140 GT:AD:DP:GQ:PL 0/1:5,5:10:99:131,0,105
3 100064902 rs2289506 C T 67.07 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.358;QD=13.41;ReadPosRankSum=0.358;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NIT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460317 GT:AD:DP:GQ:PL 0/1:2,3:5:67.28:97,0,67
3 100071070 rs13082297 G C 74.05 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=1.3;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.55;QD=10.58;ReadPosRankSum=0.937;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NIT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478856 GT:AD:DP:GQ:PL 0/1:4,3:7:99:104,0,132
3 100086861 rs277640 T C 445.49 PASS AB=0.529;AC=1;AF=0.50;AN=2;BaseQRankSum=1.645;DB;DP=34;Dels=0.0;FS=1.569;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.597;QD=13.1;ReadPosRankSum=-0.127;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TOMM70A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000483945 GT:AD:DP:GQ:PL 0/1:18,16:34:99:475,0,578
3 100092526 rs11384494 A AG 344.27 PASS AB=0.757;AC=1;AF=0.50;AN=2;BaseQRankSum=3.481;DB;DP=28;FS=0.0;HRun=1;HaplotypeScore=134.2022;IndelType=I;MQ=55.74;MQ0=0;MQRankSum=-0.564;QD=12.3;ReadPosRankSum=1.458;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TOMM70A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000492171 GT:AD:DP:GQ:PL 0/1:19,9:28:99:383,0,578
3 100092528 rs3832198 T TGCA 534.79 PASS AB=0.743;AC=1;AF=0.50;AN=2;BaseQRankSum=3.611;DB;DP=26;FS=0.0;HRun=0;HaplotypeScore=126.5531;IndelType=I;MQ=56.35;MQ0=0;MQRankSum=-0.377;QD=20.57;ReadPosRankSum=2.425;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TOMM70A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000492171 GT:AD:DP:GQ:PL 0/1:17,9:26:99:574,0,872
3 100094154 rs13071905 G T 200.54 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.237;DB;DP=15;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.12;QD=13.37;ReadPosRankSum=0.177;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TOMM70A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000492171 GT:AD:DP:GQ:PL 0/1:6,9:15:99:231,0,195
3 100094208 rs13073252 C T 118.13 PASS AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9469;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=19.69;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TOMM70A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000492171 GT:AD:DP:GQ:PL 0/1:1,5:6:26.71:148,0,27
3 100148590 . A G 2233.79 PASS AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=2.823;DP=173;Dels=0.0;FS=3.496;HRun=1;HaplotypeScore=1.841;MQ=59.47;MQ0=0;MQRankSum=-0.2;QD=12.91;ReadPosRankSum=0.444;SNPEFF_AMINO_ACID_CHANGE=D6G;SNPEFF_CODON_CHANGE=gAt/gGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_100148541_100148729;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LNP1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000383693 GT:AD:DP:GQ:PL 0/1:91,82:173:99:2264,0,2492
3 100170600 . A ATCGATCGTCTGACCGTCT 2602.34 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=2.39;DP=58;FS=1.112;HRun=0;HaplotypeScore=1564.3484;IndelType=I;MQ=49.56;MQ0=0;MQRankSum=-0.353;QD=44.87;ReadPosRankSum=-2.111;SNPEFF_AMINO_ACID_CHANGE=H65HRSSDRL;SNPEFF_CODON_CHANGE=cat/caTCGATCGTCTGACCGTCTt;SNPEFF_EFFECT=CODON_INSERTION;SNPEFF_EXON_ID=exon_3_100170563_100170793;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LNP1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000383693 GT:AD:DP:GQ:PL 0/1:13,1:58:99:2641,0,4042
3 100170601 . T G 298.10 HaplotypeScoreFilter13 AB=0.792;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.84;DP=58;Dels=0.0;FS=8.507;HRun=0;HaplotypeScore=21.9915;MQ=49.56;MQ0=0;MQRankSum=2.204;QD=5.14;ReadPosRankSum=-4.507;SNPEFF_AMINO_ACID_CHANGE=H65Q;SNPEFF_CODON_CHANGE=caT/caG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_100170563_100170793;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LNP1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000383693 GT:AD:DP:GQ:PL 0/1:42,11:58:99:328,0,676
3 100170825 rs6797397 G A 988.85 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.39;MQ0=0;QD=34.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LNP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000383693 GT:AD:DP:GQ:PL 1/1:0,28:29:81.23:1022,81,0
3 100174722 rs1132022 G A 3133.80 PASS AC=2;AF=1.00;AN=2;DB;DP=90;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.82;SNPEFF_AMINO_ACID_CHANGE=E163;SNPEFF_CODON_CHANGE=gaG/gaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_100174621_100175163;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LNP1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000383693 GT:AD:DP:GQ:PL 1/1:0,89:90:99:3167,235,0
3 100238231 rs71751636 ATG A 144.29 PASS AB=0.647;AC=1;AF=0.50;AN=2;BaseQRankSum=2.383;DB;DP=11;FS=0.0;HRun=0;HaplotypeScore=39.8829;IndelType=D;MQ=53.81;MQ0=0;MQRankSum=-0.365;QD=13.12;ReadPosRankSum=-0.633;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM45A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000323523 GT:AD:DP:GQ:PL 0/1:5,6:11:99:183,0,160
3 100275924 rs7631877 A G 273.43 PASS AB=0.476;AC=1;AF=0.50;AN=2;BaseQRankSum=1.936;DB;DP=21;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.021;QD=13.02;ReadPosRankSum=0.88;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM45A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462884 GT:AD:DP:GQ:PL 0/1:10,11:21:99:303,0,310
3 100277476 rs7645690 G C 457.81 PASS AB=0.679;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.553;DB;DP=54;Dels=0.0;FS=3.869;HRun=0;HaplotypeScore=3.7006;MQ=59.57;MQ0=0;MQRankSum=-0.903;QD=8.48;ReadPosRankSum=1.289;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM45A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000449609 GT:AD:DP:GQ:PL 0/1:36,17:54:99:488,0,1129
3 100277514 rs7645700 G A 390.32 PASS AB=0.605;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.418;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7005;MQ=59.39;MQ0=0;MQRankSum=-0.627;QD=10.27;ReadPosRankSum=-1.672;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM45A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000449609 GT:AD:DP:GQ:PL 0/1:23,15:38:99:420,0,790
3 100287764 rs28722928 T C 2038.77 PASS AB=0.448;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.093;DB;DP=125;Dels=0.0;FS=3.279;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-2.791;QD=16.31;ReadPosRankSum=-0.196;SNPEFF_AMINO_ACID_CHANGE=Y229;SNPEFF_CODON_CHANGE=taT/taC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_100287666_100287811;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM45A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000323523 GT:AD:DP:GQ:PL 0/1:56,69:125:99:2069,0,1768
3 100287901 rs6763638 T G 815.31 PASS AB=0.438;AC=1;AF=0.50;AN=2;BaseQRankSum=3.346;DB;DP=48;Dels=0.0;FS=2.973;HRun=3;HaplotypeScore=0.0;MQ=59.61;MQ0=0;MQRankSum=-0.463;QD=16.99;ReadPosRankSum=-0.398;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM45A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000323523 GT:AD:DP:GQ:PL 0/1:21,27:48:99:845,0,639
3 100295733 rs7427360 A G 385.55 PASS AB=0.59;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.099;DB;DP=39;Dels=0.0;FS=3.647;HRun=0;HaplotypeScore=0.9996;MQ=55.08;MQ0=0;MQRankSum=-0.443;QD=9.89;ReadPosRankSum=-1.699;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM45A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000323523 GT:AD:DP:GQ:PL 0/1:23,16:39:99:416,0,756
3 100295909 rs5851214 A ATTGTCT 956.73 PASS AB=0.692;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.528;DB;DP=27;FS=0.0;HRun=0;HaplotypeScore=121.5643;IndelType=I;MQ=54.77;MQ0=0;MQRankSum=-1.352;QD=35.43;ReadPosRankSum=-1.681;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM45A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000488904 GT:AD:DP:GQ:PL 0/1:15,11:27:99:996,0,572
3 100354683 rs1520652 G A 900.29 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.14;MQ0=0;QD=33.34;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR128;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273352 GT:AD:DP:GQ:PL 1/1:0,27:27:69.23:933,69,0
3 100354698 rs1718281 T A 168.95 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.182;DB;DP=16;Dels=0.0;FS=0.0;HRun=8;HaplotypeScore=0.0;MQ=58.55;MQ0=0;MQRankSum=0.91;QD=10.56;ReadPosRankSum=-0.182;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR128;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273352 GT:AD:DP:GQ:PL 0/1:4,12:16:88.98:199,0,89
3 100356027 rs4144968 C G 514.98 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.78;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR128;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273352 GT:AD:DP:GQ:PL 1/1:0,14:14:42.14:548,42,0
3 100368425 rs7622958 A G 136.43 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.103;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.676;QD=13.64;ReadPosRankSum=0.851;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR128;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273352 GT:AD:DP:GQ:PL 0/1:5,5:10:99:166,0,178
3 100368546 rs61730367 A G 645.29 PASS AB=0.463;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.488;DB;DP=41;Dels=0.0;FS=6.463;HRun=0;HaplotypeScore=1.7219;MQ=59.54;MQ0=0;MQRankSum=0.244;QD=15.74;ReadPosRankSum=0.135;SNPEFF_AMINO_ACID_CHANGE=K130R;SNPEFF_CODON_CHANGE=aAa/aGa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_100368539_100368651;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR128;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000475887 GT:AD:DP:GQ:PL 0/1:19,22:41:99:675,0,638
3 100368692 rs1144118 A G 1084.79 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=40.18;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR128;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273352 GT:AD:DP:GQ:PL 1/1:0,27:27:81.27:1118,81,0
3 100374073 rs12636989 T C 405.13 PASS AB=0.294;AC=1;AF=0.50;AN=2;BaseQRankSum=0.685;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.58;QD=23.83;ReadPosRankSum=0.264;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR128;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273352 GT:AD:DP:GQ:PL 0/1:5,12:17:99:435,0,151
3 100374121 rs12633554 C T 100.72 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=0.55;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.3;QD=14.39;ReadPosRankSum=-1.754;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR128;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273352 GT:AD:DP:GQ:PL 0/1:3,4:7:93.10:131,0,93
3 100374740 rs9866111 T C 661.62 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=2.18;DB;DP=54;Dels=0.0;FS=2.451;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=2.019;QD=12.25;ReadPosRankSum=0.763;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR128;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273352 GT:AD:DP:GQ:PL 0/1:30,24:54:99:692,0,980
3 100387709 rs1144110 A G 605.83 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.71;MQ0=0;QD=33.66;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR128;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273352 GT:AD:DP:GQ:PL 1/1:0,18:18:48.15:639,48,0
3 100388140 rs1145337 A C 41.51 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=32.69;MQ0=0;QD=20.75;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR128;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273352 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:73,6,0
3 100388149 rs1145336 G T 41.51 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=32.69;MQ0=0;QD=20.75;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR128;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273352 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:73,6,0
3 100413978 . C T 175.56 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=1.532;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.825;QD=15.96;ReadPosRankSum=1.031;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR128;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481506 GT:AD:DP:GQ:PL 0/1:5,6:11:99:206,0,156
3 100438784 rs1503838 A G 1112.69 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TFG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000240851 GT:AD:DP:GQ:PL 1/1:0,36:36:90.29:1146,90,0
3 100447416 rs1143775 T A 57.80 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=9;HaplotypeScore=0.9998;MQ=57.66;MQ0=0;QD=5.78;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TFG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000240851 GT:AD:DP:GQ:PL 1/1:0,10:10:9.02:90,9,0
3 100455139 rs3773921 T C 49.83 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.92;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TFG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463568 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
3 100455609 rs3830581 TG T 1091.61 PASS AC=2;AF=1.00;AN=2;DB;DP=27;FS=0.0;HRun=1;HaplotypeScore=70.3336;IndelType=D;MQ=60.0;MQ0=0;QD=40.43;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TFG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463568 GT:AD:DP:GQ:PL 1/1:0,27:27:81.27:1134,81,0
3 100467018 rs11353 T C 3631.42 PASS AC=2;AF=1.00;AN=2;DB;DP=112;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.17;MQ0=0;QD=32.42;SNPEFF_AMINO_ACID_CHANGE=L278P;SNPEFF_CODON_CHANGE=cTc/cCc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_100466993_100467807;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TFG;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000443578 GT:AD:DP:GQ:PL 1/1:0,112:112:99:3631,277,0
3 100558416 rs9841585 T C 109.43 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=0.633;DB;DP=10;Dels=0.0;FS=2.43;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.365;QD=10.94;ReadPosRankSum=0.0;SNPEFF_AMINO_ACID_CHANGE=T46A;SNPEFF_CODON_CHANGE=Act/Gct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_100558413_100558460;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABI3BP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000533795 GT:AD:DP:GQ:PL 0/1:6,4:10:99:139,0,185
3 100560745 rs5851226 GA G 99.39 PASS AB=0.742;AC=1;AF=0.50;AN=2;BaseQRankSum=1.023;DB;DP=23;FS=0.0;HRun=15;HaplotypeScore=207.9499;IndelType=D;MQ=54.77;MQ0=0;MQRankSum=0.651;QD=4.32;ReadPosRankSum=1.457;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABI3BP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284322 GT:AD:DP:GQ:PL 0/1:13,6:23:99:138,0,158
3 100566571 rs3806656 A G 886.89 PASS AB=0.529;AC=1;AF=0.50;AN=2;BaseQRankSum=3.588;DB;DP=76;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=5.771;MQ=60.0;MQ0=0;MQRankSum=-0.541;QD=11.67;ReadPosRankSum=-0.671;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABI3BP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284322 GT:AD:DP:GQ:PL 0/1:37,33:76:99:917,0,940
3 100567592 rs6773877 T C 593.49 PASS AB=0.551;AC=1;AF=0.50;AN=2;BaseQRankSum=0.452;DB;DP=50;Dels=0.0;FS=2.359;HRun=0;HaplotypeScore=3.5773;MQ=58.66;MQ0=0;MQRankSum=-0.834;QD=11.87;ReadPosRankSum=0.995;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABI3BP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284322 GT:AD:DP:GQ:PL 0/1:27,22:50:99:623,0,906
3 100570907 rs1966047 A G 147.60 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.52;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABI3BP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284322 GT:AD:DP:GQ:PL 1/1:0,5:5:15.02:180,15,0
3 100583651 rs10711419 GA G 1285.44 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-2.199;DB;DP=65;FS=2.982;HRun=11;HaplotypeScore=191.7096;IndelType=D;MQ=58.81;MQ0=0;MQRankSum=2.283;QD=19.78;ReadPosRankSum=0.942;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABI3BP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284322 GT:AD:DP:GQ:PL 1/1:8,56:65:99:1327,118,0
3 100585694 rs3732899 C G 1838.41 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=59.21;MQ0=0;QD=34.69;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABI3BP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284322 GT:AD:DP:GQ:PL 1/1:0,53:53:99:1871,144,0
3 100593477 rs9844826 C G 49.99 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABI3BP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000527258 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
3 100594326 rs3839090 CGGCATA C 1409.50 PASS AB=0.732;AC=1;AF=0.50;AN=2;BaseQRankSum=6.043;DB;DP=60;FS=0.0;HRun=0;HaplotypeScore=351.3306;IndelType=D;MQ=50.08;MQ0=0;MQRankSum=-6.372;QD=23.49;ReadPosRankSum=2.375;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABI3BP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000527258 GT:AD:DP:GQ:PL 0/1:38,22:60:99:1449,0,3748
3 100604739 rs3821725 G A 54.17 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.06;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABI3BP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000530539 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:85,6,0
3 100605206 rs1987384 A G 1203.83 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=59.44;MQ0=0;QD=29.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABI3BP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284322 GT:AD:DP:GQ:PL 1/1:0,41:41:96.28:1237,96,0
3 100617532 rs41273553 T C 164.12 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.888;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.5;QD=6.84;ReadPosRankSum=0.398;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABI3BP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000530236 GT:AD:DP:GQ:PL 0/1:16,8:24:99:194,0,583
3 100617668 rs34999788 G T 1720.54 PASS AB=0.546;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.744;DB;DP=130;Dels=0.0;FS=2.338;HRun=0;HaplotypeScore=1.9998;MQ=60.0;MQ0=0;MQRankSum=-0.15;QD=13.23;ReadPosRankSum=1.225;SNPEFF_AMINO_ACID_CHANGE=S140;SNPEFF_CODON_CHANGE=tcC/tcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_100617606_100617738;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABI3BP;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000284322 GT:AD:DP:GQ:PL 0/1:71,59:130:99:1751,0,2149
3 100621426 rs2576365 C A 501.46 PASS AB=0.622;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.808;DB;DP=45;Dels=0.0;FS=1.62;HRun=1;HaplotypeScore=0.0;MQ=59.49;MQ0=0;MQRankSum=1.181;QD=11.14;ReadPosRankSum=0.675;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABI3BP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284322 GT:AD:DP:GQ:PL 0/1:28,17:45:99:531,0,936
3 100621683 rs41273557 T A 35.98 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=8.99;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABI3BP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284322 GT:AD:DP:GQ:PL 0/1:1,3:4:32.20:66,0,32
3 100621684 rs79265689 C A 33.24 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.727;QD=8.31;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABI3BP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284322 GT:AD:DP:GQ:PL 0/1:1,3:4:31.62:63,0,32
3 100630604 rs2576388 T C 2477.10 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.97;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABI3BP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284322 GT:AD:DP:GQ:PL 1/1:0,67:67:99:2510,184,0
3 100645475 rs2304513 G T 65.17 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=0.322;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.322;QD=8.15;ReadPosRankSum=1.517;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ABI3BP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284322 GT:AD:DP:GQ:PL 0/1:5,3:8:95.17:95,0,183
3 100944932 rs75852013 A G 143.16 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.933;DB;DP=15;Dels=0.0;FS=6.56;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.4;QD=9.54;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IMPG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000193391 GT:AD:DP:GQ:PL 0/1:10,5:15:99:173,0,262
3 100949842 rs348867 G A 3289.05 PASS AC=2;AF=1.00;AN=2;DB;DP=96;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.7608;MQ=60.0;MQ0=0;QD=34.26;SNPEFF_AMINO_ACID_CHANGE=L1127;SNPEFF_CODON_CHANGE=ctC/ctT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_100949801_100949989;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IMPG2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000193391 GT:AD:DP:GQ:PL 1/1:0,96:96:99:3289,250,0
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3 100963154 rs571391 G A 536.22 PASS AB=0.367;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.697;DB;DP=30;Dels=0.0;FS=17.711;HRun=0;HaplotypeScore=0.9997;MQ=60.0;MQ0=0;MQRankSum=-0.292;QD=17.87;ReadPosRankSum=0.022;SNPEFF_AMINO_ACID_CHANGE=T674I;SNPEFF_CODON_CHANGE=aCa/aTa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_100962373_100963631;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IMPG2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000193391 GT:AD:DP:GQ:PL 0/1:11,19:30:99:566,0,354
3 100976219 rs348885 C G 606.46 PASS AB=0.432;AC=1;AF=0.50;AN=2;BaseQRankSum=0.843;DB;DP=37;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8321;MQ=59.38;MQ0=0;MQRankSum=-0.843;QD=16.39;ReadPosRankSum=-1.18;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IMPG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000193391 GT:AD:DP:GQ:PL 0/1:16,21:37:99:636,0,474
3 100976755 rs7613046 G C 385.31 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.03;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IMPG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000193391 GT:AD:DP:GQ:PL 1/1:0,11:11:33.08:418,33,0
3 100994377 rs2271972 T C 85.50 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=0.322;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.322;QD=10.69;ReadPosRankSum=0.322;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IMPG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000193391 GT:AD:DP:GQ:PL 0/1:3,5:8:94.51:115,0,95
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3 101022876 rs62282886 T C 293.53 PASS AB=0.63;AC=1;AF=0.50;AN=2;BaseQRankSum=2.609;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.448;QD=10.87;ReadPosRankSum=0.448;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IMPG2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000193391 GT:AD:DP:GQ:PL 0/1:17,10:27:99:324,0,574
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3 101039107 rs573908 A C 222.09 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=15;Dels=0.0;FS=11.139;HRun=0;HaplotypeScore=0.0;MQ=56.85;MQ0=0;MQRankSum=-0.428;QD=14.81;ReadPosRankSum=0.993;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SENP7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000314261 GT:AD:DP:GQ:PL 0/1:7,8:15:99:252,0,247
3 101046671 rs9849770 C A 190.32 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.902;DB;DP=30;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.946;QD=6.34;ReadPosRankSum=-1.166;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SENP7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000314261 GT:AD:DP:GQ:PL 0/1:20,10:30:99:220,0,645
3 101051794 rs2068494 C T 242.52 PASS AB=0.655;AC=1;AF=0.50;AN=2;BaseQRankSum=1.767;DB;DP=29;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=1.17;QD=8.36;ReadPosRankSum=-0.574;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SENP7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460107 GT:AD:DP:GQ:PL 0/1:19,10:29:99:273,0,707
3 101066964 rs7636229 T C 291.97 PASS AB=0.421;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.674;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.78;MQ0=0;MQRankSum=0.372;QD=15.37;ReadPosRankSum=-0.041;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SENP7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000314261 GT:AD:DP:GQ:PL 0/1:8,11:19:99:322,0,274
3 101066992 rs56704745 A T 334.97 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=7;HaplotypeScore=0.0;MQ=58.45;MQ0=0;QD=22.33;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SENP7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000314261 GT:AD:DP:GQ:PL 1/1:0,15:15:36.08:368,36,0
3 101067067 rs7622500 C A 31.93 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=7.98;ReadPosRankSum=1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SENP7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000314261 GT:AD:DP:GQ:PL 0/1:2,2:4:61.92:62,0,68
3 101080694 rs7616677 T C 717.36 PASS AB=0.489;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.436;DB;DP=47;Dels=0.0;FS=8.463;HRun=0;HaplotypeScore=0.0;MQ=59.01;MQ0=0;MQRankSum=1.905;QD=15.26;ReadPosRankSum=-0.181;SNPEFF_AMINO_ACID_CHANGE=E332;SNPEFF_CODON_CHANGE=gaA/gaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_101080559_101080705;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SENP7;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000358203 GT:AD:DP:GQ:PL 0/1:23,24:47:99:747,0,685
3 101085208 rs75513564 A G 410.07 PASS AB=0.316;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.149;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.78;MQ0=0;MQRankSum=-1.184;QD=21.58;ReadPosRankSum=-0.745;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SENP7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000314261 GT:AD:DP:GQ:PL 0/1:6,13:19:99:440,0,197
3 101085413 rs939443 G A 919.79 PASS AB=0.436;AC=1;AF=0.50;AN=2;BaseQRankSum=2.928;DB;DP=55;Dels=0.0;FS=3.743;HRun=0;HaplotypeScore=0.9996;MQ=60.0;MQ0=0;MQRankSum=-0.127;QD=16.72;ReadPosRankSum=1.383;SNPEFF_AMINO_ACID_CHANGE=T229;SNPEFF_CODON_CHANGE=acC/acT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_101085274_101085613;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SENP7;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000358203 GT:AD:DP:GQ:PL 0/1:24,31:55:99:950,0,698
3 101136340 rs9822356 C T 335.31 PASS AB=0.56;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.874;DB;DP=25;Dels=0.0;FS=3.565;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.082;QD=13.41;ReadPosRankSum=0.301;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SENP7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000314261 GT:AD:DP:GQ:PL 0/1:14,11:25:99:365,0,512
3 101136385 rs4482646 C A 852.03 PASS AB=0.46;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.796;DB;DP=50;Dels=0.0;FS=2.26;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.234;QD=17.04;ReadPosRankSum=-0.487;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SENP7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000314261 GT:AD:DP:GQ:PL 0/1:23,27:50:99:882,0,747
3 101177644 rs12496159 A C 212.10 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=3.204;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.276;QD=15.15;ReadPosRankSum=1.524;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SENP7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000314261 GT:AD:DP:GQ:PL 0/1:7,7:14:99:242,0,191
3 101177901 rs151020849 GA G 658.64 PASS AB=0.719;AC=1;AF=0.50;AN=2;BaseQRankSum=5.815;DB;DP=97;FS=2.984;HRun=10;HaplotypeScore=278.7552;IndelType=D;MQ=60.33;MQ0=0;MQRankSum=-0.923;QD=6.79;ReadPosRankSum=-0.764;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SENP7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000314261 GT:AD:DP:GQ:PL 0/1:57,37:97:99:698,0,1192
3 101212889 rs3846088 C T 188.65 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.447;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.633;QD=18.87;ReadPosRankSum=0.365;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SENP7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000314261 GT:AD:DP:GQ:PL 0/1:4,6:10:99:219,0,131
3 101212953 rs3846089 A G 50.35 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.727;QD=12.59;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SENP7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000314261 GT:AD:DP:GQ:PL 0/1:1,3:4:23.24:80,0,23
3 101212954 rs3846090 C T 38.99 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.727;QD=9.75;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SENP7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000314261 GT:AD:DP:GQ:PL 0/1:1,3:4:25.78:69,0,26
3 101219818 rs7619540 G A 243.33 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.772;DB;DP=15;Dels=0.0;FS=3.31;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.209;QD=16.22;ReadPosRankSum=-1.324;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SENP7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000314261 GT:AD:DP:GQ:PL 0/1:7,8:15:99:273,0,229
3 101219889 rs7621830 G C 465.39 PASS AB=0.469;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.566;DB;DP=32;Dels=0.0;FS=3.732;HRun=0;HaplotypeScore=0.7887;MQ=59.28;MQ0=0;MQRankSum=1.473;QD=14.54;ReadPosRankSum=-2.341;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SENP7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000314261 GT:AD:DP:GQ:PL 0/1:15,17:32:99:495,0,473
3 101231871 rs9681493 C T 576.96 PASS AB=0.582;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.95;DB;DP=55;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.53;MQ0=0;MQRankSum=0.091;QD=10.49;ReadPosRankSum=1.344;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SENP7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000314261 GT:AD:DP:GQ:PL 0/1:32,23:55:99:607,0,836
3 101231921 rs9682313 T C 538.88 PASS AB=0.654;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.885;DB;DP=81;Dels=0.0;FS=4.935;HRun=1;HaplotypeScore=0.7887;MQ=57.33;MQ0=0;MQRankSum=0.402;QD=6.65;ReadPosRankSum=-1.748;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SENP7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000314261 GT:AD:DP:GQ:PL 0/1:53,28:81:99:569,0,1747
3 101232093 rs55749605 C A 83.28 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=40.2;MQ0=0;QD=10.41;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SENP7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000314261 GT:AD:DP:GQ:PL 1/1:0,8:8:9.03:115,9,0
3 101283792 rs3762735 C G 1145.33 PASS AB=0.397;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.262;DB;DP=78;Dels=0.0;FS=1.931;HRun=0;HaplotypeScore=0.0;MQ=58.51;MQ0=0;MQRankSum=0.782;QD=14.68;ReadPosRankSum=-0.381;SNPEFF_AMINO_ACID_CHANGE=P56R;SNPEFF_CODON_CHANGE=cCc/cGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_101283614_101285290;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RG9MTD1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000309922 GT:AD:DP:GQ:PL 0/1:31,47:78:99:1175,0,982
3 101295502 rs35917542 T A 882.42 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.009;DB;DP=54;Dels=0.0;FS=8.01;HRun=0;HaplotypeScore=0.0;MQ=57.09;MQ0=0;MQRankSum=0.738;QD=16.34;ReadPosRankSum=-0.649;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PCNP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265260 GT:AD:DP:GQ:PL 0/1:27,27:54:99:912,0,866
3 101295562 rs80342763 T C 975.26 PASS AB=0.581;AC=1;AF=0.50;AN=2;BaseQRankSum=2.326;DB;DP=88;Dels=0.0;FS=4.611;HRun=0;HaplotypeScore=3.7827;MQ=56.96;MQ0=1;MQRankSum=1.094;QD=11.08;ReadPosRankSum=-0.174;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PCNP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265260 GT:AD:DP:GQ:PL 0/1:50,36:88:99:1005,0,1605
3 101295584 rs4234491 C T 3368.99 PASS AC=2;AF=1.00;AN=2;DB;DP=102;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.6647;MQ=56.87;MQ0=1;QD=33.03;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PCNP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265260 GT:AD:DP:GQ:PL 1/1:0,101:102:99:3369,247,0
3 101304414 rs3804776 G T 485.48 PASS AB=0.3;AC=1;AF=0.50;AN=2;BaseQRankSum=1.361;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9159;MQ=58.84;MQ0=0;MQRankSum=-0.371;QD=24.27;ReadPosRankSum=-1.113;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PCNP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265260 GT:AD:DP:GQ:PL 0/1:6,14:20:99:515,0,191
3 101370551 rs78127229 T C 207.94 PASS AB=0.469;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.386;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7866;MQ=50.2;MQ0=0;MQRankSum=-0.022;QD=6.5;ReadPosRankSum=-0.022;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZBTB11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471673 GT:AD:DP:GQ:PL 0/1:15,17:32:99:238,0,326
3 101373480 rs34508490 A G 345.29 PASS AB=0.649;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.802;DB;DP=37;Dels=0.0;FS=2.69;HRun=0;HaplotypeScore=0.0;MQ=59.38;MQ0=0;MQRankSum=-1.448;QD=9.33;ReadPosRankSum=-1.511;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZBTB11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471673 GT:AD:DP:GQ:PL 0/1:24,13:37:99:375,0,829
3 101389864 rs9837549 T C 250.76 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.82;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZBTB11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000312938 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:284,21,0
3 101399910 rs148057621 GA G 529.68 PASS AB=0.68;AC=1;AF=0.50;AN=2;BaseQRankSum=1.911;DB;DP=70;FS=0.0;HRun=12;HaplotypeScore=203.0348;IndelType=D;MQ=59.91;MQ0=0;MQRankSum=-1.59;QD=7.57;ReadPosRankSum=1.783;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC084198.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000536865 GT:AD:DP:GQ:PL 0/1:35,33:70:99:569,0,758
3 101404813 rs2303473 A G 385.42 PASS AB=0.595;AC=1;AF=0.50;AN=2;BaseQRankSum=0.046;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=59.5;MQ0=0;MQRankSum=0.356;QD=10.42;ReadPosRankSum=-0.974;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=RPL24;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470961 GT:AD:DP:GQ:PL 0/1:22,15:37:99:415,0,774
3 101443461 rs994573 T C 670.38 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.52;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEP97;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000489172 GT:AD:DP:GQ:PL 1/1:0,20:20:51.17:703,51,0
3 101476462 . C T 803.42 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.414;DP=52;Dels=0.0;FS=11.952;HRun=1;HaplotypeScore=0.0;MQ=59.56;MQ0=0;MQRankSum=-0.407;QD=15.45;ReadPosRankSum=0.615;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEP97;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462076 GT:AD:DP:GQ:PL 0/1:24,28:52:99:833,0,770
3 101484335 rs2625282 G A 2624.35 PASS AC=2;AF=1.00;AN=2;DB;DP=81;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.48;MQ0=0;QD=32.4;SNPEFF_AMINO_ACID_CHANGE=Q787;SNPEFF_CODON_CHANGE=caG/caA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_101483691_101484822;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEP97;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000494050 GT:AD:DP:GQ:PL 1/1:0,81:81:99:2657,214,0
3 101504624 rs2625289 A C 599.71 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.28;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM55C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000487830 GT:AD:DP:GQ:PL 1/1:0,17:17:48.15:633,48,0
3 101571550 rs587555 A G 720.37 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.84;MQ0=0;QD=36.02;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NFKBIZ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461724 GT:AD:DP:GQ:PL 1/1:0,20:20:57.18:753,57,0
3 101572822 rs2925334 C G 172.92 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.82;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NFKBIZ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461724 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:206,15,0
3 101573345 rs34931768 AT A 63 PASS AB=0.619;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=13;FS=0.0;HRun=15;HaplotypeScore=54.0611;IndelType=D;MQ=57.23;MQ0=0;MQRankSum=1.092;QD=4.85;ReadPosRankSum=-0.696;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NFKBIZ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461724 GT:AD:DP:GQ:PL 0/1:4,7:13:82.03:102,0,82
3 101574503 rs677011 G A 1141.48 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;QD=36.82;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NFKBIZ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461724 GT:AD:DP:GQ:PL 1/1:0,30:31:87.26:1174,87,0
3 101575877 rs75713821 AT A 218.20 QDFilter2 AB=0.942;AC=1;AF=0.50;AN=2;BaseQRankSum=3.798;DB;DP=129;FS=109.215;HRun=17;HaplotypeScore=807.1535;IndelType=D;MQ=51.87;MQ0=0;MQRankSum=-0.29;QD=1.69;ReadPosRankSum=4.049;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NFKBIZ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461724 GT:AD:DP:GQ:PL 0/1:121,8:129:93.43:257,0,93
3 101575881 rs113782866 T TC 2183.73 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.307;DB;DP=135;FS=63.318;HRun=0;HaplotypeScore=676.8222;IndelType=I;MQ=51.47;MQ0=0;MQRankSum=-1.197;QD=16.18;ReadPosRankSum=1.824;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NFKBIZ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461724 GT:AD:DP:GQ:PL 1/1:130,5:135:99:2226,251,0
3 101575882 rs595788 T C 2835.34 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.229;DB;DP=135;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=12.9089;MQ=51.47;MQ0=0;MQRankSum=0.452;QD=21.0;ReadPosRankSum=0.137;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NFKBIZ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461724 GT:AD:DP:GQ:PL 1/1:13,121:135:99:2868,124,0
3 101576029 rs3217713 T TACTTTTAGAAAGCTTTAATAACC 33871.43 PASS AC=2;AF=1.00;AN=2;DB;DP=135;FS=0.0;HRun=0;HaplotypeScore=1957.1172;IndelType=I;MQ=34.69;MQ0=0;QD=250.9;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NFKBIZ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465476 GT:AD:DP:GQ:PL 1/1:104,20:135:99:33871,388,0
3 101576030 . A T 133.62 HaplotypeScoreFilter13;MQFilter40;QDFilter2 AB=0.948;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.61;DP=135;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=28.8954;MQ=34.69;MQ0=0;MQRankSum=4.267;QD=0.99;ReadPosRankSum=-4.449;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NFKBIZ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465476 GT:AD:DP:GQ:PL 0/1:128,7:135:99:164,0,665
3 101576175 rs14134 T C 1918.97 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9578;MQ=52.7;MQ0=0;QD=33.67;SNPEFF_AMINO_ACID_CHANGE=L537;SNPEFF_CODON_CHANGE=Ttg/Ctg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_101576136_101576303;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NFKBIZ;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000326151 GT:AD:DP:GQ:PL 1/1:0,57:57:99:1952,156,0
3 101576404 rs622122 A T 282.76 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.39;MQ0=0;QD=31.42;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NFKBIZ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465476 GT:AD:DP:GQ:PL 1/1:0,9:9:24.08:316,24,0
3 101577972 rs11443767 G GC 232.92 PASS AC=2;AF=1.00;AN=2;DB;DP=6;FS=0.0;HRun=0;HaplotypeScore=10.919;IndelType=I;MQ=63.51;MQ0=0;QD=38.82;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NFKBIZ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465476 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:275,18,0
3 101713472 rs12629299 C A 703.30 PASS AB=0.368;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.497;DB;DP=38;Dels=0.0;FS=1.371;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.589;QD=18.51;ReadPosRankSum=-0.045;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=RP11-221J22.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465215 GT:AD:DP:GQ:PL 0/1:14,24:38:99:733,0,479
3 102157283 rs79648917 GT G 290.53 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=3.288;DB;DP=20;FS=0.0;HRun=2;HaplotypeScore=63.5501;IndelType=D;MQ=60.0;MQ0=0;MQRankSum=0.038;QD=14.53;ReadPosRankSum=0.416;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZPLD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000306176 GT:AD:DP:GQ:PL 0/1:10,10:20:99:330,0,390
3 102157365 rs6784362 A T 455.48 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.584;DB;DP=34;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.688;QD=13.4;ReadPosRankSum=0.448;SNPEFF_AMINO_ACID_CHANGE=I12F;SNPEFF_CODON_CHANGE=Att/Ttt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_102157324_102157437;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZPLD1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000466937 GT:AD:DP:GQ:PL 0/1:17,17:34:99:485,0,481
3 102157417 rs6784389 A G 227.75 PASS AB=0.591;AC=1;AF=0.50;AN=2;BaseQRankSum=1.702;DB;DP=22;Dels=0.0;FS=9.558;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.34;QD=10.35;ReadPosRankSum=-1.195;SNPEFF_AMINO_ACID_CHANGE=N29S;SNPEFF_CODON_CHANGE=aAc/aGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_102157324_102157437;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZPLD1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000466937 GT:AD:DP:GQ:PL 0/1:13,9:22:99:258,0,448
3 102172106 rs11708291 T C 71.27 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.537;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.537;QD=11.88;ReadPosRankSum=0.406;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZPLD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000306176 GT:AD:DP:GQ:PL 0/1:3,3:6:99:101,0,110
3 102174936 rs62272486 G A 139.54 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.336;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.851;QD=13.95;ReadPosRankSum=-0.336;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZPLD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000306176 GT:AD:DP:GQ:PL 0/1:5,5:10:99:170,0,179
3 102176799 rs75957873 C T 254.68 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.945;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.45;MQ0=0;MQRankSum=0.059;QD=16.98;ReadPosRankSum=-0.766;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZPLD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000306176 GT:AD:DP:GQ:PL 0/1:6,9:15:99:285,0,210
3 102181131 rs12054046 A G 532.03 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.952;DB;DP=45;Dels=0.0;FS=13.202;HRun=0;HaplotypeScore=1.6598;MQ=53.63;MQ0=0;MQRankSum=2.607;QD=11.82;ReadPosRankSum=-0.894;SNPEFF_AMINO_ACID_CHANGE=T197A;SNPEFF_CODON_CHANGE=Acc/Gcc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_102181125_102181222;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZPLD1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000466937 GT:AD:DP:GQ:PL 0/1:24,20:45:99:562,0,704
3 102195680 rs7627117 C A 148.18 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=0.198;DB;DP=7;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.198;QD=21.17;ReadPosRankSum=-0.922;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZPLD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000306176 GT:AD:DP:GQ:PL 0/1:2,5:7:61.58:178,0,62
3 103781738 rs9859698 C G 290.36 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.061;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.429;QD=19.36;ReadPosRankSum=1.898;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP11-40M23.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478270 GT:AD:DP:GQ:PL 0/1:5,10:15:99:320,0,164
3 103781849 rs9860145 G A 515.30 PASS AB=0.611;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.916;DB;DP=54;Dels=0.0;FS=6.404;HRun=1;HaplotypeScore=0.9578;MQ=59.16;MQ0=0;MQRankSum=1.225;QD=9.37;ReadPosRankSum=0.299;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP11-40M23.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478270 GT:AD:DP:GQ:PL 0/1:33,21:54:99:545,0,975
3 103782444 rs79768431 T C 91.92 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=1.516;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.182;QD=5.74;ReadPosRankSum=-0.91;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP11-40M23.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478270 GT:AD:DP:GQ:PL 0/1:12,4:16:99:122,0,405
3 103782849 rs13324427 G A 716.59 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.12;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP11-40M23.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478270 GT:AD:DP:GQ:PL 1/1:0,21:21:54.18:750,54,0
3 105086085 rs6437585 C T 104.94 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.937;QD=14.99;ReadPosRankSum=0.937;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALCAM;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470756 GT:AD:DP:GQ:PL 0/1:3,4:7:87.84:135,0,88
3 105238890 rs11291806 CT C 1060.69 PASS AC=2;AF=1.00;AN=2;DB;DP=50;FS=0.0;HRun=11;HaplotypeScore=313.57;IndelType=D;MQ=60.62;MQ0=0;QD=21.21;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALCAM;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000306107 GT:AD:DP:GQ:PL 1/1:2,48:50:99:1103,140,0
3 105252377 rs2171146 G C 589.30 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=39.29;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALCAM;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000306107 GT:AD:DP:GQ:PL 1/1:0,15:15:45.15:622,45,0
3 105252687 rs2399049 G A 121.68 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.42;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALCAM;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000306107 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:154,12,0
3 105259092 . A C 46.37 PASS AB=0.353;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.892;DP=17;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=3.8795;MQ=55.8;MQ0=0;MQRankSum=-1.468;QD=2.73;ReadPosRankSum=2.177;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALCAM;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460954 GT:AD:DP:GQ:PL 0/1:6,11:17:76.36:76,0,149
3 105260596 rs599278 T C 1661.38 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.91;SNPEFF_AMINO_ACID_CHANGE=A275;SNPEFF_CODON_CHANGE=gcT/gcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_105260477_105260609;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALCAM;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000486979 GT:AD:DP:GQ:PL 1/1:0,49:49:99:1694,123,0
3 105260798 rs598425 G T 158.76 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.75;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALCAM;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460954 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:191,15,0
3 105264176 rs34926152 G T 2136.95 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=3.3638;MQ=59.31;MQ0=0;QD=31.89;SNPEFF_AMINO_ACID_CHANGE=M316I;SNPEFF_CODON_CHANGE=atG/atT;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_105264067_105264179;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALCAM;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000486979 GT:AD:DP:GQ:PL 1/1:0,67:67:99:2170,163,0
3 105266536 rs10933821 T C 282.22 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.36;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALCAM;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481337 GT:AD:DP:GQ:PL 1/1:0,9:9:24.08:315,24,0
3 105389153 rs11713094 A G 809.55 PASS AB=0.507;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.63;DB;DP=67;Dels=0.0;FS=5.316;HRun=2;HaplotypeScore=0.0;MQ=59.31;MQ0=0;MQRankSum=0.222;QD=12.08;ReadPosRankSum=-0.061;SNPEFF_AMINO_ACID_CHANGE=P210;SNPEFF_CODON_CHANGE=ccT/ccC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_105389077_105389196;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CBLB;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000394030 GT:AD:DP:GQ:PL 0/1:34,33:67:99:840,0,1098
3 105404031 rs16851440 T C 75.59 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.537;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.406;QD=12.6;ReadPosRankSum=0.988;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CBLB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264122 GT:AD:DP:GQ:PL 0/1:3,3:6:99:106,0,101
3 105412286 rs56167906 C CTT 309.08 PASS AC=2;AF=1.00;AN=2;DB;DP=7;FS=0.0;HRun=1;HaplotypeScore=15.3959;IndelType=I;MQ=63.02;MQ0=0;QD=44.15;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CBLB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264122 GT:AD:DP:GQ:PL 1/1:1,6:7:18.06:351,18,0
3 105422844 rs2305037 C T 581.33 PASS AB=0.323;AC=1;AF=0.50;AN=2;BaseQRankSum=0.866;DB;DP=31;Dels=0.0;FS=6.537;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.627;QD=18.75;ReadPosRankSum=-2.176;SNPEFF_AMINO_ACID_CHANGE=T527;SNPEFF_CODON_CHANGE=acG/acA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_105422832_105423017;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CBLB;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000264122 GT:AD:DP:GQ:PL 0/1:10,21:31:99:611,0,309
3 105423088 rs1548056 T C 476.66 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.33;MQ0=0;QD=34.05;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CBLB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264122 GT:AD:DP:GQ:PL 1/1:0,14:14:39.12:510,39,0
3 105438806 rs7624400 G A 433.03 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;QD=36.09;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CBLB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000545639 GT:AD:DP:GQ:PL 1/1:0,12:12:36.09:466,36,0
3 105438957 rs2305036 T G 645.58 PASS AB=0.478;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.913;DB;DP=46;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9998;MQ=60.0;MQ0=0;MQRankSum=-0.033;QD=14.03;ReadPosRankSum=1.22;SNPEFF_AMINO_ACID_CHANGE=L447;SNPEFF_CODON_CHANGE=ctA/ctC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_105438891_105439094;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CBLB;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000264122 GT:AD:DP:GQ:PL 0/1:22,24:46:99:676,0,672
3 105439026 rs2305035 G A 537.37 PASS AB=0.459;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.112;DB;DP=37;Dels=0.0;FS=5.62;HRun=0;HaplotypeScore=1.8938;MQ=60.0;MQ0=0;MQRankSum=-1.143;QD=14.52;ReadPosRankSum=0.015;SNPEFF_AMINO_ACID_CHANGE=D424;SNPEFF_CODON_CHANGE=gaC/gaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_105438891_105439094;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CBLB;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000264122 GT:AD:DP:GQ:PL 0/1:17,20:37:99:567,0,577
3 105452751 rs1992520 C T 289.22 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.39;MQ0=0;QD=32.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CBLB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264122 GT:AD:DP:GQ:PL 1/1:0,8:9:24.08:322,24,0
3 105453034 rs6768096 A G 281.15 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.24;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CBLB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264122 GT:AD:DP:GQ:PL 1/1:0,9:9:24.08:314,24,0
3 105455955 rs2289746 T C 462.99 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=2.22;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=59.14;MQ0=0;MQRankSum=-1.488;QD=17.15;ReadPosRankSum=-1.683;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CBLB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264122 GT:AD:DP:GQ:PL 0/1:12,15:27:99:493,0,415
3 105495432 rs9809911 G T 1120.05 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.43;MQ0=0;QD=33.94;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CBLB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264122 GT:AD:DP:GQ:PL 1/1:0,33:33:87.27:1153,87,0
3 105586538 rs2221379 G A 158.40 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.4;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CBLB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264122 GT:AD:DP:GQ:PL 1/1:0,6:6:15.04:191,15,0
3 107096547 rs709564 G A 769.18 PASS AB=0.597;AC=1;AF=0.50;AN=2;BaseQRankSum=1.607;DB;DP=62;Dels=0.0;FS=0.996;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.722;QD=12.41;ReadPosRankSum=-0.89;SNPEFF_AMINO_ACID_CHANGE=R38Q;SNPEFF_CODON_CHANGE=cGg/cAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_107096188_107097481;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC54;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000261058 GT:AD:DP:GQ:PL 0/1:37,25:62:99:799,0,1159
3 107451907 rs4855764 C T 177 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.4;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BBX;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000413213 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:210,15,0
3 107510197 . A ATAAG 1464.95 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.073;DP=27;FS=0.0;HRun=0;HaplotypeScore=95.1668;IndelType=I;MQ=56.86;MQ0=0;MQRankSum=0.578;QD=54.26;ReadPosRankSum=1.404;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BBX;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000325767 GT:AD:DP:GQ:PL 1/1:6,21:27:27.73:1507,28,0
3 107519843 rs1532325 T C 984.89 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.17;MQ0=0;QD=35.17;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BBX;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473542 GT:AD:DP:GQ:PL 1/1:0,28:28:75.24:1018,75,0
3 107524097 rs9842741 A C 2162.70 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.597;DB;DP=58;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9467;MQ=59.52;MQ0=0;MQRankSum=1.374;QD=37.29;ReadPosRankSum=-0.418;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BBX;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000325767 GT:AD:DP:GQ:PL 1/1:1,57:58:99:2196,131,0
3 107769230 rs696364 C T 327.33 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CD47;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355354 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:360,27,0
3 107769791 rs114418764 T G 227.94 PASS AB=0.529;AC=1;AF=0.50;AN=2;BaseQRankSum=1.78;DB;DP=17;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.8941;MQ=57.23;MQ0=0;MQRankSum=-0.241;QD=13.41;ReadPosRankSum=1.203;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CD47;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355354 GT:AD:DP:GQ:PL 0/1:9,8:17:99:258,0,303
3 107774196 rs186183032 G C 71.04 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=0.322;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.956;QD=8.88;ReadPosRankSum=-0.956;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CD47;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355354 GT:AD:DP:GQ:PL 0/1:5,3:8:99:101,0,176
3 107776511 rs709436 C T 386.57 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CD47;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355354 GT:AD:DP:GQ:PL 1/1:0,11:11:30.10:420,30,0
3 107881138 rs1135937 T A 89.85 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.95;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IFT57;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468021 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:122,9,0
3 107881152 rs58273586 T C 92.66 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.89;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IFT57;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468021 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:125,9,0
3 107882291 rs28494587 G T 127.48 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.87;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IFT57;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468021 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:160,12,0
3 107882357 rs28483736 C T 256.29 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.48;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IFT57;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468021 GT:AD:DP:GQ:PL 1/1:0,9:9:21.07:289,21,0
3 107882643 rs327168 G A 928.96 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.16;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IFT57;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468021 GT:AD:DP:GQ:PL 1/1:0,25:25:72.22:962,72,0
3 107884132 rs62264149 T C 300.66 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.58;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IFT57;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468021 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:334,24,0
3 107884211 rs327167 T C 643.01 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.23;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IFT57;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468021 GT:AD:DP:GQ:PL 1/1:0,22:22:51.17:676,51,0
3 107884269 rs62264150 A G 1220.62 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.41;MQ0=0;QD=31.3;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IFT57;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468021 GT:AD:DP:GQ:PL 1/1:0,39:39:99:1254,99,0
3 107885875 rs2305551 A G 1307.82 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.42;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IFT57;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264538 GT:AD:DP:GQ:PL 1/1:0,38:38:99:1341,102,0
3 107886925 rs17232836 C T 50.63 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IFT57;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264538 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
3 107910327 rs60290956 C CTT 759.93 PASS AC=2;AF=1.00;AN=2;DB;DP=39;FS=0.0;HRun=14;HaplotypeScore=290.7807;IndelType=I;MQ=51.9;MQ0=0;QD=19.49;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IFT57;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264538 GT:AD:DP:GQ:PL 1/1:11,14:39:82.85:802,83,0
3 107937286 rs1289760 A G 1994.39 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.77;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IFT57;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000492106 GT:AD:DP:GQ:PL 1/1:0,67:67:99:2027,163,0
3 107937360 rs56273515 C T 3112.85 PASS AC=2;AF=1.00;AN=2;DB;DP=92;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;QD=33.84;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IFT57;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000492106 GT:AD:DP:GQ:PL 1/1:0,90:92:99:3146,232,0
3 107937408 rs1135897 C T 2692.10 PASS AC=2;AF=1.00;AN=2;DB;DP=78;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.51;SNPEFF_AMINO_ACID_CHANGE=L156;SNPEFF_CODON_CHANGE=ttG/ttA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_107937382_107937500;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IFT57;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000264538 GT:AD:DP:GQ:PL 1/1:0,78:78:99:2725,205,0
3 107938584 rs1289753 C A 368.43 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.49;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IFT57;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264538 GT:AD:DP:GQ:PL 1/1:0,11:11:30.10:401,30,0
3 108039298 rs114958262 C T 4079.98 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.503;DB;DP=124;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=-1.537;QD=32.9;ReadPosRankSum=-1.201;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HHLA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357759 GT:AD:DP:GQ:PL 1/1:1,123:124:99:4080,259,0
3 108070556 rs9846218 T C 1273.25 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.41;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HHLA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357759 GT:AD:DP:GQ:PL 1/1:0,37:37:99:1306,99,0
3 108072243 rs6766283 C T 4534.50 PASS AC=2;AF=1.00;AN=2;DB;DP=129;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.82;MQ0=0;QD=35.15;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HHLA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357759 GT:AD:DP:GQ:PL 1/1:1,128:129:99:4534,343,0
3 108072298 rs6779254 T C 5564.08 PASS AC=2;AF=1.00;AN=2;DB;DP=161;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=59.86;MQ0=0;QD=34.56;SNPEFF_AMINO_ACID_CHANGE=I30T;SNPEFF_CODON_CHANGE=aTt/aCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_108072274_108072627;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HHLA2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000357759 GT:AD:DP:GQ:PL 1/1:0,161:161:99:5564,412,0
3 108072704 rs6779650 T C 1531.34 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.51;MQ0=0;QD=32.58;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HHLA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462629 GT:AD:DP:GQ:PL 1/1:0,47:47:99:1564,132,0
3 108096098 rs1463426 C G 666.40 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.02;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYH15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273353 GT:AD:DP:GQ:PL 1/1:0,18:18:51.17:699,51,0
3 108096227 rs1463425 G C 447.25 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.27;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HHLA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491820 GT:AD:DP:GQ:PL 1/1:0,12:12:36.11:480,36,0
3 108099148 rs147559157 G A 36.41 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=6.07;ReadPosRankSum=0.72;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HHLA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000357759 GT:AD:DP:GQ:PL 0/1:4,2:6:66.40:66,0,148
3 108102586 rs34041576 T TA 261.25 PASS AB=0.762;AC=1;AF=0.50;AN=2;BaseQRankSum=0.291;DB;DP=48;FS=0.0;HRun=15;HaplotypeScore=373.6297;IndelType=I;MQ=54.87;MQ0=0;MQRankSum=0.261;QD=5.44;ReadPosRankSum=0.077;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYH15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273353 GT:AD:DP:GQ:PL 0/1:33,15:48:90.64:300,0,91
3 108103433 rs3860537 T C 369.41 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYH15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273353 GT:AD:DP:GQ:PL 1/1:0,11:11:30.10:402,30,0
3 108107704 rs1463431 C T 479.07 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.22;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYH15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273353 GT:AD:DP:GQ:PL 1/1:0,13:14:39.12:512,39,0
3 108107925 rs7616341 C A 1507.91 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.734;MQ=60.0;MQ0=0;QD=32.78;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYH15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273353 GT:AD:DP:GQ:PL 1/1:0,46:46:99:1541,114,0
3 108112760 rs2290601 C T 726.19 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.31;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYH15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273353 GT:AD:DP:GQ:PL 1/1:0,20:20:60.19:759,60,0
3 108117356 . T TG 973.18 PASS AC=2;AF=1.00;AN=2;DP=28;FS=0.0;HRun=1;HaplotypeScore=181.5542;IndelType=I;MQ=58.73;MQ0=0;QD=34.76;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYH15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273353 GT:AD:DP:GQ:PL 1/1:0,28:28:78.24:1015,78,0
3 108117694 rs13087507 G A 3449.27 PASS AC=2;AF=1.00;AN=2;DB;DP=100;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9973;MQ=60.0;MQ0=0;QD=34.49;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYH15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273353 GT:AD:DP:GQ:PL 1/1:0,100:100:99:3449,262,0
3 108126872 rs3957543 T C 51.22 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.61;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYH15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273353 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
3 108129348 rs1078455 T C 528.41 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.23;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYH15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273353 GT:AD:DP:GQ:PL 1/1:0,15:15:42.13:561,42,0
3 108135606 rs67919012 TAA T 1132.10 PASS AC=2;AF=1.00;AN=2;DB;DP=39;FS=0.0;HRun=11;HaplotypeScore=287.5827;IndelType=D;MQ=57.23;MQ0=0;QD=29.03;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYH15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273353 GT:AD:DP:GQ:PL 1/1:0,38:39:99:1174,117,0
3 108135799 rs11927603 C G 1284.15 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.25;MQ0=0;QD=32.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYH15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273353 GT:AD:DP:GQ:PL 1/1:0,40:40:96.31:1317,96,0
3 108140148 rs4593038 A G 626.48 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.83;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYH15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273353 GT:AD:DP:GQ:PL 1/1:0,21:21:51.16:659,51,0
3 108147145 rs1817233 T A 726.37 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.23;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYH15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273353 GT:AD:DP:GQ:PL 1/1:0,19:19:57.17:759,57,0
3 108147295 rs1350235 C A 4870.34 PASS AC=2;AF=1.00;AN=2;DB;DP=148;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.59;MQ0=0;QD=32.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYH15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273353 GT:AD:DP:GQ:PL 1/1:0,148:148:99:4870,355,0
3 108147728 rs3900940 T C 2910.94 PASS AC=2;AF=1.00;AN=2;DB;DP=83;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.78;MQ0=0;QD=35.07;SNPEFF_AMINO_ACID_CHANGE=T1125A;SNPEFF_CODON_CHANGE=Act/Gct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_108147339_108147728;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYH15;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000273353 GT:AD:DP:GQ:PL 1/1:0,83:83:99:2944,217,0
3 108156633 rs113832514 A AAAAG 1409.18 PASS AC=2;AF=1.00;AN=2;DB;DP=22;FS=0.0;HRun=0;HaplotypeScore=68.6675;IndelType=I;MQ=52.1;MQ0=0;QD=64.05;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYH15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273353 GT:AD:DP:GQ:PL 1/1:3,19:22:60.20:1451,60,0
3 108158574 rs3996040 C T 4267.45 PASS AC=2;AF=1.00;AN=2;DB;DP=125;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.655;MQ=59.45;MQ0=0;QD=34.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYH15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273353 GT:AD:DP:GQ:PL 1/1:0,124:125:99:4267,310,0
3 108160339 rs7652606 G A 49.99 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYH15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273353 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
3 108163303 rs3996017 C T 79.79 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.6;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYH15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273353 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:112,9,0
3 108172817 rs6437783 C T 950.93 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.14;MQ0=0;QD=35.22;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYH15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000495753 GT:AD:DP:GQ:PL 1/1:0,27:27:75.23:984,75,0
3 108188755 rs11917965 A C 91.60 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.53;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYH15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273353 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:124,9,0
3 108188993 rs9868484 G A 1738.37 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.8519;MQ=59.56;MQ0=0;QD=32.8;SNPEFF_AMINO_ACID_CHANGE=H504Y;SNPEFF_CODON_CHANGE=Cac/Tac;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_108188889_108189059;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYH15;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000273353 GT:AD:DP:GQ:PL 1/1:0,52:53:99:1771,132,0
3 108189750 rs12495639 C T 728.18 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.78;MQ0=0;QD=38.33;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYH15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273353 GT:AD:DP:GQ:PL 1/1:0,19:19:57.19:761,57,0
3 108195406 rs3996003 C T 465.47 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.302;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9996;MQ=60.0;MQ0=0;MQRankSum=-1.085;QD=27.38;ReadPosRankSum=1.085;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYH15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273353 GT:AD:DP:GQ:PL 1/1:1,16:17:3.56:496,4,0
3 108211869 . A AAAGG 570.63 PASS AC=2;AF=1.00;AN=2;DP=11;FS=0.0;HRun=0;HaplotypeScore=34.7883;IndelType=I;MQ=56.0;MQ0=0;QD=47.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYH15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273353 GT:AD:DP:GQ:PL 1/1:2,10:11:27.09:613,27,0
3 108214537 rs2603140 T G 201.41 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.57;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYH15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273353 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:234,18,0
3 108224685 rs55971936 CA C 84.62 QDFilter2 AB=0.766;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.63;DB;DP=49;FS=2.646;HRun=15;HaplotypeScore=295.8877;IndelType=D;MQ=55.98;MQ0=0;MQRankSum=2.126;QD=1.73;ReadPosRankSum=1.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYH15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273353 GT:AD:DP:GQ:PL 0/1:34,13:49:99:124,0,433
3 108229122 rs3843872 C G 104.79 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.21;MQ0=0;QD=20.96;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYH15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273353 GT:AD:DP:GQ:PL 1/1:0,5:5:12.03:137,12,0
3 108229171 rs2249886 T C 824.49 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.48;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYH15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273353 GT:AD:DP:GQ:PL 1/1:0,22:22:66.17:857,66,0
3 108229437 rs34809945 G GA 1194.82 PASS AC=2;AF=1.00;AN=2;DB;DP=50;FS=0.0;HRun=11;HaplotypeScore=136.1223;IndelType=I;MQ=60.01;MQ0=0;QD=23.9;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYH15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273353 GT:AD:DP:GQ:PL 1/1:7,42:50:99:1237,126,0
3 108271012 rs2305514 T C 908.11 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.33;MQ0=0;QD=32.43;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA1524;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295746 GT:AD:DP:GQ:PL 1/1:0,28:28:72.21:941,72,0
3 108272743 rs2688253 T C 65.40 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=45.43;MQ0=0;QD=21.8;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA1524;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295746 GT:AD:DP:GQ:PL 1/1:0,3:3:9.01:97,9,0
3 108273441 rs2045095 T C 220.82 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.8;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA1524;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295746 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:254,18,0
3 108281784 rs35938863 C T 857.69 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.99;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA1524;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295746 GT:AD:DP:GQ:PL 1/1:0,22:22:66.22:891,66,0
3 108286947 rs11386134 G GA 1410.51 PASS AC=2;AF=1.00;AN=2;DB;DP=43;FS=0.0;HRun=8;HaplotypeScore=84.4935;IndelType=I;MQ=60.75;MQ0=0;QD=32.8;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA1524;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295746 GT:AD:DP:GQ:PL 1/1:1,42:43:99:1453,126,0
3 108303989 rs34788499 C A 672.66 PASS AB=0.432;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.487;DB;DP=37;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.5767;MQ=59.38;MQ0=0;MQRankSum=0.904;QD=18.18;ReadPosRankSum=0.659;SNPEFF_AMINO_ACID_CHANGE=C58F;SNPEFF_CODON_CHANGE=tGc/tTc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_108303912_108304059;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA1524;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000295746 GT:AD:DP:GQ:PL 0/1:16,21:37:99:703,0,527
3 108329888 rs3112026 A G 247.15 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.31;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DZIP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361582 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:280,21,0
3 108335253 rs71920270 A AT 451.69 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.552;DB;DP=22;FS=0.0;HRun=12;HaplotypeScore=120.7738;IndelType=I;MQ=57.81;MQ0=0;MQRankSum=-0.456;QD=20.53;ReadPosRankSum=0.091;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DZIP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361582 GT:AD:DP:GQ:PL 1/1:4,18:22:35.19:494,35,0
3 108344636 rs11296688 TA T 222.78 PASS AC=2;AF=1.00;AN=2;DB;DP=14;FS=0.0;HRun=14;HaplotypeScore=58.5836;IndelType=D;MQ=59.13;MQ0=0;QD=15.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DZIP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361582 GT:AD:DP:GQ:PL 1/1:2,12:14:38.64:265,39,0
3 108355423 rs10711079 AT A 1318.66 PASS AC=2;AF=1.00;AN=2;DB;DP=46;FS=0.0;HRun=7;HaplotypeScore=114.6027;IndelType=D;MQ=60.54;MQ0=0;QD=28.67;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DZIP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000393969 GT:AD:DP:GQ:PL 1/1:1,45:46:99:1361,135,0
3 108355575 rs10711080 CT C 1145.22 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.678;DB;DP=77;FS=0.0;HRun=12;HaplotypeScore=257.4741;IndelType=D;MQ=59.44;MQ0=0;MQRankSum=0.402;QD=14.87;ReadPosRankSum=-0.929;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DZIP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000393969 GT:AD:DP:GQ:PL 1/1:15,58:77:68.22:1187,68,0
3 108356501 . T TTTAAGGTAGTA 1882.14 PASS AC=2;AF=1.00;AN=2;DP=16;FS=0.0;HRun=0;HaplotypeScore=111.0473;IndelType=I;MQ=40.15;MQ0=0;QD=117.63;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DZIP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000393969 GT:AD:DP:GQ:PL 1/1:8,7:16:39.13:1924,39,0
3 108369823 rs116329058 G A 120.50 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.731;QD=24.1;ReadPosRankSum=0.731;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DZIP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479138 GT:AD:DP:GQ:PL 0/1:1,4:5:24.96:150,0,25
3 108396183 rs67477027 A AT 258.78 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.267;DB;DP=20;FS=0.0;HRun=15;HaplotypeScore=282.5584;IndelType=I;MQ=45.63;MQ0=0;MQRankSum=-0.522;QD=12.94;ReadPosRankSum=-1.863;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DZIP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361582 GT:AD:DP:GQ:PL 1/1:6,8:20:14.42:301,14,0
3 108402894 rs66531435 CAT C 311.36 PASS AC=2;AF=1.00;AN=2;DB;DP=8;FS=0.0;HRun=0;HaplotypeScore=26.5365;IndelType=D;MQ=57.05;MQ0=0;QD=38.92;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DZIP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361582 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:353,24,0
3 108403086 rs9856097 T C 5794.18 PASS AC=2;AF=1.00;AN=2;DB;DP=176;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.5784;MQ=59.74;MQ0=0;QD=32.92;SNPEFF_AMINO_ACID_CHANGE=P969;SNPEFF_CODON_CHANGE=ccT/ccC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_108403063_108403188;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DZIP3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000361582 GT:AD:DP:GQ:PL 1/1:0,176:176:99:5794,442,0
3 108475808 rs1107337 G A 396.24 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.48;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RETNLB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295755 GT:AD:DP:GQ:PL 1/1:0,13:13:33.09:429,33,0
3 108541931 rs5851618 CAT C 334.36 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=2.914;DB;DP=18;FS=0.0;HRun=0;HaplotypeScore=65.8613;IndelType=D;MQ=60.6;MQ0=0;MQRankSum=-0.53;QD=18.58;ReadPosRankSum=-0.088;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRAT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295756 GT:AD:DP:GQ:PL 0/1:9,9:18:99:373,0,470
3 108541994 rs2121760 C T 211.83 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.31;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRAT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295756 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:245,18,0
3 108557820 rs7651205 T C 882.01 PASS AB=0.373;AC=1;AF=0.50;AN=2;BaseQRankSum=0.7;DB;DP=51;Dels=0.0;FS=1.171;HRun=0;HaplotypeScore=0.0;MQ=59.55;MQ0=0;MQRankSum=0.979;QD=17.29;ReadPosRankSum=0.42;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRAT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295756 GT:AD:DP:GQ:PL 0/1:19,32:51:99:912,0,582
3 108565815 rs2593831 T C 483.78 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.21;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRAT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295756 GT:AD:DP:GQ:PL 1/1:0,13:13:39.11:517,39,0
3 108567923 rs2715716 G A 347.89 PASS AB=0.476;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.021;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.176;QD=16.57;ReadPosRankSum=0.951;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRAT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484927 GT:AD:DP:GQ:PL 0/1:10,11:21:99:378,0,343
3 108639119 rs2715688 A G 212.98 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.43;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GUCA1C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000261047 GT:AD:DP:GQ:PL 1/1:0,7:7:21.06:246,21,0
3 108639423 rs2715687 C T 1153.23 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.95;SNPEFF_AMINO_ACID_CHANGE=V72I;SNPEFF_CODON_CHANGE=Gtt/Att;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_108639283_108639432;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GUCA1C;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000261047 GT:AD:DP:GQ:PL 1/1:0,32:32:87.28:1186,87,0
3 108672335 rs35258530 GA G 67.96 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.531;DB;DP=20;FS=0.0;HRun=14;HaplotypeScore=119.689;IndelType=D;MQ=54.55;MQ0=0;MQRankSum=0.694;QD=3.4;ReadPosRankSum=1.021;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MORC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000232603 GT:AD:DP:GQ:PL 0/1:10,7:20:99:107,0,174
3 108677821 rs2197737 C A 1610.69 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=39.29;SNPEFF_AMINO_ACID_CHANGE=S961;SNPEFF_CODON_CHANGE=tcG/tcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_108677692_108677967;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MORC1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000483760 GT:AD:DP:GQ:PL 1/1:0,41:41:99:1644,120,0
3 108678002 rs2197738 G A 1689.80 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.13;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MORC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000232603 GT:AD:DP:GQ:PL 1/1:0,51:51:99:1723,135,0
3 108682218 rs2715755 A G 1652.63 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.05;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MORC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000232603 GT:AD:DP:GQ:PL 1/1:0,50:50:99:1686,141,0
3 108690221 rs2593943 G A 2980.03 PASS AC=2;AF=1.00;AN=2;DB;DP=89;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=59.48;MQ0=0;QD=33.48;SNPEFF_AMINO_ACID_CHANGE=H815Y;SNPEFF_CODON_CHANGE=Cat/Tat;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_108690177_108690249;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MORC1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000483760 GT:AD:DP:GQ:PL 1/1:0,89:89:99:3013,229,0
3 108698090 rs2953337 A G 86.60 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MORC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000232603 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:119,9,0
3 108698224 rs62272098 T C 253.77 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.462;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.03;QD=12.08;ReadPosRankSum=-1.741;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MORC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000232603 GT:AD:DP:GQ:PL 0/1:12,9:21:99:284,0,433
3 108698627 rs2953338 G A 425.53 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.73;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MORC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000232603 GT:AD:DP:GQ:PL 1/1:0,13:13:36.09:459,36,0
3 108703422 rs1868195 A G 144.22 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.21;MQ0=0;QD=28.84;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MORC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000232603 GT:AD:DP:GQ:PL 1/1:0,5:5:15.04:177,15,0
3 108703518 rs2593958 G T 876.79 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.07;MQ0=0;QD=35.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MORC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000232603 GT:AD:DP:GQ:PL 1/1:0,25:25:69.22:910,69,0
3 108703548 rs2593959 C T 1172.41 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.23;MQ0=0;QD=39.08;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MORC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000232603 GT:AD:DP:GQ:PL 1/1:0,30:30:90.28:1205,90,0
3 108703702 rs2593960 A T 407.52 PASS AB=0.077;AC=1;AF=0.50;AN=2;BaseQRankSum=0.401;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9998;MQ=60.0;MQ0=0;MQRankSum=-0.935;QD=31.35;ReadPosRankSum=1.47;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MORC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000232603 GT:AD:DP:GQ:PL 0/1:1,12:13:1.54:436,0,2
3 108705715 rs111860692 A AT 620.74 PASS AC=2;AF=1.00;AN=2;DB;DP=25;FS=0.0;HRun=9;HaplotypeScore=72.8362;IndelType=I;MQ=59.02;MQ0=0;QD=24.83;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MORC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000232603 GT:AD:DP:GQ:PL 1/1:3,22:25:60.16:663,60,0
3 108719470 rs3762698 C G 1042.69 PASS AB=0.558;AC=1;AF=0.50;AN=2;BaseQRankSum=0.146;DB;DP=86;Dels=0.0;FS=2.848;HRun=0;HaplotypeScore=0.0;MQ=59.73;MQ0=0;MQRankSum=-1.286;QD=12.12;ReadPosRankSum=0.464;SNPEFF_AMINO_ACID_CHANGE=L686;SNPEFF_CODON_CHANGE=ctG/ctC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_108719404_108719505;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MORC1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000483760 GT:AD:DP:GQ:PL 0/1:48,38:86:99:1073,0,1573
3 108724202 rs13072610 A G 338.38 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=1.464;DB;DP=16;Dels=0.0;FS=4.26;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.488;QD=21.15;ReadPosRankSum=2.007;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MORC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000232603 GT:AD:DP:GQ:PL 0/1:6,10:16:99:368,0,158
3 108724279 rs2290058 T A 211.90 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.49;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MORC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000232603 GT:AD:DP:GQ:PL 1/1:0,8:8:21.06:245,21,0
3 108725694 rs2044586 C T 48.77 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MORC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000232603 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:80,6,0
3 108725759 rs2044587 C T 125.97 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=62.65;MQ0=0;QD=31.49;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MORC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000232603 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:158,12,0
3 108725848 rs5851630 ATTGC A 1585.78 PASS AC=2;AF=1.00;AN=2;DB;DP=29;FS=0.0;HRun=0;HaplotypeScore=259.0464;IndelType=D;MQ=49.07;MQ0=0;QD=54.68;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MORC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000232603 GT:AD:DP:GQ:PL 1/1:2,27:29:84.29:1628,84,0
3 108725862 rs2044589 T C 996.75 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=49.29;MQ0=0;QD=30.2;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MORC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000232603 GT:AD:DP:GQ:PL 1/1:0,33:33:84.21:1030,84,0
3 108725984 rs2044590 G C 883.91 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=53.45;MQ0=0;QD=34.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MORC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000232603 GT:AD:DP:GQ:PL 1/1:0,26:26:75.21:917,75,0
3 108746411 rs71629378 A ATT 484.58 PASS AC=2;AF=1.00;AN=2;DB;DP=17;FS=0.0;HRun=14;HaplotypeScore=118.4055;IndelType=I;MQ=48.77;MQ0=0;QD=28.5;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MORC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000232603 GT:AD:DP:GQ:PL 1/1:4,8:17:48.89:527,49,0
3 108746836 rs17665933 T C 34.83 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=5.8;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MORC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000232603 GT:AD:DP:GQ:PL 0/1:4,2:6:64.82:65,0,143
3 108746953 rs9858814 C G 91.60 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.53;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MORC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000232603 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:124,9,0
3 108754146 rs9821261 G A 1155.87 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.5784;MQ=59.28;MQ0=0;QD=36.12;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MORC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000232603 GT:AD:DP:GQ:PL 1/1:0,32:32:87.28:1189,87,0
3 108754214 rs3762697 T C 674.26 PASS AB=0.529;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.161;DB;DP=51;Dels=0.0;FS=1.072;HRun=0;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=-0.198;QD=13.22;ReadPosRankSum=0.368;SNPEFF_AMINO_ACID_CHANGE=M478V;SNPEFF_CODON_CHANGE=Atg/Gtg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_108754187_108754315;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MORC1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000232603 GT:AD:DP:GQ:PL 0/1:27,24:51:99:704,0,796
3 108754238 rs4855576 A T 1446.52 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.75;MQ0=0;QD=30.14;SNPEFF_AMINO_ACID_CHANGE=F470I;SNPEFF_CODON_CHANGE=Ttt/Att;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_108754187_108754315;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MORC1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000232603 GT:AD:DP:GQ:PL 1/1:1,47:48:99:1480,114,0
3 108754260 rs3762696 A G 1290.66 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.66;MQ0=0;QD=35.85;SNPEFF_AMINO_ACID_CHANGE=D462;SNPEFF_CODON_CHANGE=gaT/gaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_108754187_108754315;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MORC1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000232603 GT:AD:DP:GQ:PL 1/1:0,36:36:99:1324,105,0
3 108754320 rs36119926 T TA 415.33 PASS AC=2;AF=1.00;AN=2;DB;DP=21;FS=0.0;HRun=10;HaplotypeScore=142.5127;IndelType=I;MQ=60.45;MQ0=0;QD=19.78;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MORC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000232603 GT:AD:DP:GQ:PL 1/1:3,12:21:58.60:457,59,0
3 108754374 rs3762695 T C 163.12 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.532;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=61.94;MQ0=0;MQRankSum=-0.387;QD=14.83;ReadPosRankSum=0.143;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MORC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000232603 GT:AD:DP:GQ:PL 0/1:5,6:11:99:193,0,176
3 108773772 rs7653625 A G 301 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.248;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.8533;MQ=58.99;MQ0=0;MQRankSum=0.066;QD=13.09;ReadPosRankSum=0.985;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MORC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000232603 GT:AD:DP:GQ:PL 0/1:11,11:23:99:331,0,341
3 108776343 rs1031252 C T 1321.03 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.76;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MORC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000232603 GT:AD:DP:GQ:PL 1/1:0,38:38:99:1354,99,0
3 108776439 rs2290061 T C 141.01 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.098;DB;DP=10;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.336;QD=14.1;ReadPosRankSum=0.851;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MORC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000232603 GT:AD:DP:GQ:PL 0/1:5,5:10:99:171,0,175
3 108780831 rs7653651 G A 1632.80 PASS AB=0.419;AC=1;AF=0.50;AN=2;BaseQRankSum=5.15;DB;DP=94;Dels=0.0;FS=4.225;HRun=0;HaplotypeScore=1.4972;MQ=59.32;MQ0=0;MQRankSum=-0.567;QD=17.19;ReadPosRankSum=-0.416;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MORC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000232603 GT:AD:DP:GQ:PL 0/1:39,54:94:99:1663,0,995
3 108781952 rs13060344 G T 499.72 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.673;DB;DP=34;Dels=0.0;FS=6.69;HRun=3;HaplotypeScore=0.0;MQ=59.32;MQ0=0;MQRankSum=0.466;QD=14.7;ReadPosRankSum=-0.535;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MORC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000232603 GT:AD:DP:GQ:PL 0/1:16,18:34:99:530,0,524
3 108812154 rs9821382 A G 51.75 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MORC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000232603 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:83,6,0
3 108829765 rs6437822 C T 37.37 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=7.47;ReadPosRankSum=-1.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MORC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000232603 GT:AD:DP:GQ:PL 0/1:3,2:5:67.36:67,0,93
3 108897541 rs9288889 G T 48.72 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.36;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=C3orf66;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000494582 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:80,6,0
3 109019435 rs9865540 G A 679.62 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.76;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DPPA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478945 GT:AD:DP:GQ:PL 1/1:0,18:18:54.16:713,54,0
3 109027157 rs7611135 C T 953.88 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=39.74;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DPPA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478945 GT:AD:DP:GQ:PL 1/1:0,24:24:72.24:987,72,0
3 109027820 rs7611871 G A 983.45 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9789;MQ=60.0;MQ0=0;QD=35.12;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DPPA2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478945 GT:AD:DP:GQ:PL 1/1:0,28:28:75.25:1016,75,0
3 109049384 rs13059848 T C 833.45 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.716;DB;DP=58;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.8;MQ0=0;MQRankSum=0.152;QD=14.37;ReadPosRankSum=-0.902;SNPEFF_AMINO_ACID_CHANGE=P222;SNPEFF_CODON_CHANGE=ccA/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_109049371_109049659;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DPPA4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000335658 GT:AD:DP:GQ:PL 0/1:29,29:58:99:863,0,888
3 109049720 rs112463757 C CTAAGGGT 1295.69 PASS AB=0.738;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.349;DB;DP=31;FS=0.0;HRun=0;HaplotypeScore=160.2377;IndelType=I;MQ=50.27;MQ0=0;MQRankSum=-3.097;QD=41.8;ReadPosRankSum=-0.935;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DPPA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477303 GT:AD:DP:GQ:PL 0/1:20,9:31:99:1335,0,1058
3 109050980 rs1163438 T C 171.95 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.56;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DPPA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000489281 GT:AD:DP:GQ:PL 1/1:0,7:7:18.05:205,18,0
3 109052732 rs3762648 T C 1261.45 PASS AB=0.505;AC=1;AF=0.50;AN=2;BaseQRankSum=1.79;DB;DP=91;Dels=0.0;FS=1.679;HRun=0;HaplotypeScore=1.367;MQ=59.75;MQ0=0;MQRankSum=-0.218;QD=13.86;ReadPosRankSum=-1.282;SNPEFF_AMINO_ACID_CHANGE=I3V;SNPEFF_CODON_CHANGE=Atc/Gtc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_109052717_109052840;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DPPA4;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000477303 GT:AD:DP:GQ:PL 0/1:46,45:91:99:1291,0,1430
3 109052934 rs7642495 G A 84.61 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.312;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.077;QD=6.04;ReadPosRankSum=-0.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DPPA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000335658 GT:AD:DP:GQ:PL 0/1:10,4:14:99:115,0,303
3 109056183 rs9836011 A T 88.65 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.851;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9998;MQ=60.0;MQ0=0;MQRankSum=-0.676;QD=8.86;ReadPosRankSum=0.103;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DPPA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000335658 GT:AD:DP:GQ:PL 0/1:5,5:10:99:119,0,139
3 110401486 rs36104081 C T 1769.79 PASS AB=0.416;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.754;DB;DP=101;Dels=0.0;FS=3.851;HRun=0;HaplotypeScore=0.8667;MQ=57.66;MQ0=0;MQRankSum=1.163;QD=17.52;ReadPosRankSum=-1.449;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP11-179A18.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000483479 GT:AD:DP:GQ:PL 0/1:42,59:101:99:1800,0,1309
3 110611137 rs1381838 G A 2283.41 PASS AC=2;AF=1.00;AN=2;DB;DP=69;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.09;SNPEFF_AMINO_ACID_CHANGE=S180L;SNPEFF_CODON_CHANGE=tCg/tTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_110610970_110611450;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RP11-553A10.1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000383686 GT:AD:DP:GQ:PL 1/1:0,69:69:99:2316,171,0
3 110612308 rs9826523 G A 1453.10 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.79;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RP11-553A10.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485473 GT:AD:DP:GQ:PL 1/1:0,43:43:99:1486,108,0
3 111286625 . G C 46.11 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.92;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.322;QD=5.76;ReadPosRankSum=0.322;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD96;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283285 GT:AD:DP:GQ:PL 0/1:5,3:8:76.10:76,0,185
3 111316886 rs3215207 C CTTATG 1608.93 PASS AB=0.702;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.691;DB;DP=40;FS=0.0;HRun=0;HaplotypeScore=163.6883;IndelType=I;MQ=55.8;MQ0=0;MQRankSum=-1.285;QD=40.22;ReadPosRankSum=-0.014;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD96;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283285 GT:AD:DP:GQ:PL 0/1:23,15:40:99:1648,0,1110
3 111356083 rs1533270 G C 911.38 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.4;SNPEFF_AMINO_ACID_CHANGE=P454;SNPEFF_CODON_CHANGE=ccG/ccC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_111356043_111356108;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD96;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000352690 GT:AD:DP:GQ:PL 1/1:0,31:31:72.22:944,72,0
3 111432805 rs17423699 G A 712.42 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.715;DB;DP=66;Dels=0.0;FS=0.955;HRun=0;HaplotypeScore=2.78;MQ=60.0;MQ0=0;MQRankSum=0.432;QD=10.79;ReadPosRankSum=0.486;SNPEFF_AMINO_ACID_CHANGE=A232;SNPEFF_CODON_CHANGE=gcG/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_111432734_111432975;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLCXD2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000393934 GT:AD:DP:GQ:PL 0/1:36,30:66:99:742,0,1036
3 111451383 rs13085147 A C 55.49 PASS AB=0.727;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.566;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.566;QD=5.04;ReadPosRankSum=0.715;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLCXD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000393934 GT:AD:DP:GQ:PL 0/1:8,3:11:85.48:85,0,294
3 111451603 rs3821919 G C 140.84 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.159;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.9;MQ0=0;MQRankSum=-0.361;QD=15.65;ReadPosRankSum=1.652;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PHLDB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359729 GT:AD:DP:GQ:PL 0/1:4,5:9:99:171,0,137
3 111564913 rs139342193 A G 241.68 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=1.294;DB;DP=12;Dels=0.0;FS=5.643;HRun=2;HaplotypeScore=0.0;MQ=58.05;MQ0=0;MQRankSum=-2.034;QD=20.14;ReadPosRankSum=-0.925;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PHLDB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359729 GT:AD:DP:GQ:PL 0/1:3,9:12:90.53:272,0,91
3 111564985 rs937558 T A 160.56 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.21;MQ0=0;QD=32.11;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PHLDB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359729 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:193,15,0
3 111602770 rs6805339 G A 391.14 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.391;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.604;QD=18.63;ReadPosRankSum=-0.462;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PHLDB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359729 GT:AD:DP:GQ:PL 0/1:9,12:21:99:421,0,310
3 111602828 rs6805359 G A 732.56 PASS AB=0.521;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.862;DB;DP=48;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.968;QD=15.26;ReadPosRankSum=-0.649;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PHLDB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359729 GT:AD:DP:GQ:PL 0/1:25,23:48:99:763,0,836
3 111604541 rs1283007 G C 250.54 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.308;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=0.054;QD=15.66;ReadPosRankSum=-0.705;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PHLDB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359729 GT:AD:DP:GQ:PL 0/1:6,10:16:99:281,0,205
3 111631920 rs9819688 C A 95.28 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.72;QD=15.88;ReadPosRankSum=-1.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PHLDB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359729 GT:AD:DP:GQ:PL 0/1:2,4:6:65.42:125,0,65
3 111637691 rs6786539 T C 170.94 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.42;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PHLDB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477695 GT:AD:DP:GQ:PL 1/1:0,7:7:21.02:204,21,0
3 111637692 rs6773761 G C 187.06 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.72;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PHLDB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477695 GT:AD:DP:GQ:PL 1/1:0,7:7:21.02:220,21,0
3 111637816 rs16858868 A G 278.21 PASS AB=0.56;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.641;DB;DP=25;Dels=0.0;FS=3.128;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.794;QD=11.13;ReadPosRankSum=-0.027;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PHLDB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477695 GT:AD:DP:GQ:PL 0/1:14,11:25:99:308,0,491
3 111637904 rs2399399 G A 2799.36 PASS AC=2;AF=1.00;AN=2;DB;DP=77;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.4105;MQ=60.0;MQ0=0;QD=36.36;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PHLDB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477695 GT:AD:DP:GQ:PL 1/1:0,77:77:99:2832,208,0
3 111638132 rs951660 A C 455.30 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.02;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PHLDB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477695 GT:AD:DP:GQ:PL 1/1:0,13:13:36.12:488,36,0
3 111638199 rs1282941 A G 199.58 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.51;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PHLDB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477695 GT:AD:DP:GQ:PL 1/1:0,7:7:18.05:232,18,0
3 111638952 rs6779756 C T 51.64 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.82;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PHLDB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477695 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:83,6,0
3 111639353 rs937551 G T 167.88 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.58;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PHLDB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477695 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:201,15,0
3 111658290 rs712509 T G 524.91 PASS AB=0.472;AC=1;AF=0.50;AN=2;BaseQRankSum=0.982;DB;DP=36;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.7887;MQ=59.36;MQ0=0;MQRankSum=-0.285;QD=14.58;ReadPosRankSum=0.285;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PHLDB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359729 GT:AD:DP:GQ:PL 0/1:17,19:36:99:555,0,538
3 111658486 rs712510 T G 976.70 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.59;MQ0=0;QD=29.6;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PHLDB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359729 GT:AD:DP:GQ:PL 1/1:0,33:33:78.24:1010,78,0
3 111659377 rs698358 T C 583.36 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.7;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PHLDB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359729 GT:AD:DP:GQ:PL 1/1:0,19:19:48.15:616,48,0
3 111663928 rs6786655 A C 52.22 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.11;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PHLDB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359729 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:83,6,0
3 111671284 rs712517 A G 420.23 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.9;MQ0=0;QD=35.02;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PHLDB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478733 GT:AD:DP:GQ:PL 1/1:0,12:12:36.11:453,36,0
3 111685328 rs774859 T C 382.26 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.23;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PHLDB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000393923 GT:AD:DP:GQ:PL 1/1:0,10:10:30.10:415,30,0
3 111685374 rs112667758 GGT G 132.36 PASS AB=0.769;AC=1;AF=0.50;AN=2;BaseQRankSum=0.968;DB;DP=20;FS=0.0;HRun=0;HaplotypeScore=155.981;IndelType=D;MQ=56.45;MQ0=0;MQRankSum=-0.71;QD=6.62;ReadPosRankSum=0.452;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PHLDB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000393923 GT:AD:DP:GQ:PL 0/1:14,6:20:99:171,0,340
3 111686738 rs799570 G A 356.36 PASS AB=0.389;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.087;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.543;QD=19.8;ReadPosRankSum=0.906;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PHLDB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470699 GT:AD:DP:GQ:PL 0/1:7,11:18:99:386,0,235
3 111692693 rs2895388 A G 1062.46 PASS AB=0.53;AC=1;AF=0.50;AN=2;BaseQRankSum=0.141;DB;DP=83;Dels=0.0;FS=1.046;HRun=0;HaplotypeScore=3.2437;MQ=60.0;MQ0=0;MQRankSum=0.123;QD=12.8;ReadPosRankSum=-0.552;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PHLDB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000498699 GT:AD:DP:GQ:PL 0/1:44,39:83:99:1092,0,1490
3 111692829 rs774852 C T 159.32 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.55;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PHLDB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000498699 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:192,15,0
3 111697867 rs2289598 T C 174.87 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.633;DB;DP=10;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.365;QD=17.49;ReadPosRankSum=1.447;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PHLDB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000393923 GT:AD:DP:GQ:PL 0/1:4,6:10:99:205,0,128
3 111705992 rs3804765 A G 139.61 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=1.186;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.408;QD=12.69;ReadPosRankSum=-0.387;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ABHD10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000497293 GT:AD:DP:GQ:PL 0/1:6,5:11:99:170,0,213
3 111710206 rs6795538 T C 143.15 PASS AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=1.511;DB;DP=19;Dels=0.0;FS=5.18;HRun=1;HaplotypeScore=0.0;MQ=58.78;MQ0=0;MQRankSum=-0.857;QD=7.53;ReadPosRankSum=0.204;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ABHD10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273359 GT:AD:DP:GQ:PL 0/1:10,9:19:99:173,0,320
3 111710398 rs17429033 A G 1510.55 PASS AB=0.509;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.272;DB;DP=112;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.8216;MQ=59.24;MQ0=0;MQRankSum=0.723;QD=13.49;ReadPosRankSum=-0.538;SNPEFF_AMINO_ACID_CHANGE=I251V;SNPEFF_CODON_CHANGE=Att/Gtt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_111710224_111712210;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ABHD10;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000273359 GT:AD:DP:GQ:PL 0/1:57,55:112:99:1541,0,1639
3 111719493 rs774764 A G 641.69 PASS AB=0.459;AC=1;AF=0.50;AN=2;BaseQRankSum=2.088;DB;DP=37;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=59.38;MQ0=0;MQRankSum=0.686;QD=17.34;ReadPosRankSum=0.411;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_3_111719370_111719539;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAGLN3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000486460 GT:AD:DP:GQ:PL 0/1:17,20:37:99:672,0,537
3 111719879 rs2292582 C T 435.83 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.386;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.933;MQ=60.0;MQ0=0;MQRankSum=0.643;QD=16.76;ReadPosRankSum=1.569;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAGLN3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273368 GT:AD:DP:GQ:PL 0/1:12,14:26:99:466,0,398
3 111730487 rs79557849 T C 65.88 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.406;DB;DP=6;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=10.98;ReadPosRankSum=-0.406;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAGLN3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273368 GT:AD:DP:GQ:PL 0/1:3,3:6:95.87:96,0,108
3 111730546 rs3749310 G A 276.81 PASS AB=0.412;AC=1;AF=0.50;AN=2;BaseQRankSum=2.976;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.63;MQ0=0;MQRankSum=-0.83;QD=16.28;ReadPosRankSum=-0.439;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAGLN3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273368 GT:AD:DP:GQ:PL 0/1:7,10:17:99:307,0,197
3 111730591 rs3749311 G T 598.80 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.706;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.36;MQ0=0;MQRankSum=-2.246;QD=16.63;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAGLN3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273368 GT:AD:DP:GQ:PL 0/1:15,21:36:99:629,0,483
3 111730766 rs3828394 G A 67.49 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=13.5;ReadPosRankSum=1.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TAGLN3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273368 GT:AD:DP:GQ:PL 0/1:2,3:5:69.36:97,0,69
3 111760771 rs774774 A G 1778.69 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.76;SNPEFF_AMINO_ACID_CHANGE=K101;SNPEFF_CODON_CHANGE=aaA/aaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_111760767_111760897;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMPRSS7;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000452346 GT:AD:DP:GQ:PL 1/1:0,56:56:99:1812,138,0
3 111763085 rs4682350 C T 1990.93 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.56;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMPRSS7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000419127 GT:AD:DP:GQ:PL 1/1:0,53:53:99:2024,147,0
3 111763278 rs7650559 G T 328.10 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.2;MQ0=0;QD=25.24;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMPRSS7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000419127 GT:AD:DP:GQ:PL 1/1:0,13:13:30.08:361,30,0
3 111766559 rs1688304 T G 1113.94 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.81;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMPRSS7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000419127 GT:AD:DP:GQ:PL 1/1:0,32:32:84.27:1147,84,0
3 111769417 rs7625159 G A 624.57 PASS AB=0.542;AC=1;AF=0.50;AN=2;BaseQRankSum=4.526;DB;DP=84;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.8995;MQ=48.66;MQ0=0;MQRankSum=1.123;QD=7.44;ReadPosRankSum=0.845;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMPRSS7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460599 GT:AD:DP:GQ:PL 0/1:45,38:84:99:655,0,688
3 111799845 rs340151 A T 1049.27 PASS AB=0.507;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.766;DB;DP=71;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9734;MQ=59.68;MQ0=0;MQRankSum=-0.006;QD=14.78;ReadPosRankSum=-0.793;SNPEFF_AMINO_ACID_CHANGE=S690C;SNPEFF_CODON_CHANGE=Agt/Tgt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_111799761_111800012;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMPRSS7;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000419127 GT:AD:DP:GQ:PL 0/1:36,35:71:99:1079,0,1152
3 111822017 rs41270437 A G 36.36 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.38;QD=6.06;ReadPosRankSum=-0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=C3orf52;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264848 GT:AD:DP:GQ:PL 0/1:4,2:6:66.35:66,0,135
3 111828384 rs138046470 G GT 881.60 PASS AC=2;AF=1.00;AN=2;DB;DP=25;FS=0.0;HRun=3;HaplotypeScore=140.5327;IndelType=I;MQ=59.69;MQ0=0;QD=35.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=C3orf52;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264848 GT:AD:DP:GQ:PL 1/1:3,22:25:66.22:924,66,0
3 111828423 rs340167 G A 946.76 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.71;MQ0=0;QD=35.07;SNPEFF_AMINO_ACID_CHANGE=G144S;SNPEFF_CODON_CHANGE=Ggt/Agt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_111828390_111828460;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=C3orf52;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000264848 GT:AD:DP:GQ:PL 1/1:0,27:27:72.24:980,72,0
3 111828476 rs2120095 A G 781.66 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.42;MQ0=0;QD=30.06;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=C3orf52;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264848 GT:AD:DP:GQ:PL 1/1:0,26:26:60.18:815,60,0
3 111849497 rs78709683 T G 170.71 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=2.983;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.05;MQ0=0;MQRankSum=0.813;QD=10.67;ReadPosRankSum=1.03;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=C3orf52;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000480282 GT:AD:DP:GQ:PL 0/1:10,6:16:99:201,0,329
3 111873902 rs11369523 T TA 501.53 PASS AB=0.733;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.599;DB;DP=99;FS=8.1;HRun=14;HaplotypeScore=476.2942;IndelType=I;MQ=58.07;MQ0=0;MQRankSum=1.796;QD=5.07;ReadPosRankSum=-0.365;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000305815 GT:AD:DP:GQ:PL 0/1:61,32:99:99:541,0,434
3 111885896 rs4682084 A G 46.56 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=15.52;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000305815 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:78,6,0
3 111886357 rs4682363 A G 53.22 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.61;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000305815 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
3 111898387 rs74367861 A G 829.47 PASS AB=0.452;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.001;DB;DP=62;Dels=0.0;FS=1.007;HRun=1;HaplotypeScore=1.6281;MQ=59.63;MQ0=0;MQRankSum=1.963;QD=13.38;ReadPosRankSum=1.86;SNPEFF_AMINO_ACID_CHANGE=T922;SNPEFF_CODON_CHANGE=acT/acC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_111898378_111898548;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A10;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000487372 GT:AD:DP:GQ:PL 0/1:28,34:62:99:859,0,748
3 111904703 rs113370398 C A 114.02 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.44;MQ0=0;MQRankSum=0.0;QD=19.0;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000305815 GT:AD:DP:GQ:PL 0/1:2,4:6:20.20:144,0,20
3 111918051 rs79256733 T C 373.71 PASS AB=0.35;AC=1;AF=0.50;AN=2;BaseQRankSum=2.615;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.079;QD=18.69;ReadPosRankSum=-0.792;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000305815 GT:AD:DP:GQ:PL 0/1:7,13:20:99:404,0,233
3 111918216 rs13098660 A G 1362.14 PASS AB=0.447;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.812;DB;DP=94;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9332;MQ=60.0;MQ0=0;MQRankSum=0.801;QD=14.49;ReadPosRankSum=0.566;SNPEFF_AMINO_ACID_CHANGE=F777;SNPEFF_CODON_CHANGE=ttT/ttC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_111918168_111918316;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A10;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000487372 GT:AD:DP:GQ:PL 0/1:42,52:94:99:1392,0,1351
3 111921225 rs6781844 G T 934.06 PASS AB=0.628;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.018;DB;DP=94;Dels=0.0;FS=5.427;HRun=3;HaplotypeScore=0.9983;MQ=60.0;MQ0=0;MQRankSum=0.571;QD=9.94;ReadPosRankSum=-0.156;SNPEFF_AMINO_ACID_CHANGE=Q684K;SNPEFF_CODON_CHANGE=Caa/Aaa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_111921097_111921246;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A10;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000487372 GT:AD:DP:GQ:PL 0/1:59,35:94:99:964,0,1687
3 111923047 rs4422273 G A 446.36 PASS AB=0.578;AC=1;AF=0.50;AN=2;BaseQRankSum=4.24;DB;DP=45;Dels=0.0;FS=8.619;HRun=1;HaplotypeScore=0.0;MQ=59.49;MQ0=0;MQRankSum=-1.321;QD=9.92;ReadPosRankSum=1.62;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000305815 GT:AD:DP:GQ:PL 0/1:26,19:45:99:476,0,751
3 111923123 rs4434123 G A 923.32 PASS AB=0.613;AC=1;AF=0.50;AN=2;BaseQRankSum=0.77;DB;DP=80;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.1567;MQ=59.71;MQ0=0;MQRankSum=-1.136;QD=11.54;ReadPosRankSum=-0.336;SNPEFF_AMINO_ACID_CHANGE=T657I;SNPEFF_CODON_CHANGE=aCt/aTt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_111923065_111923250;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A10;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000487372 GT:AD:DP:GQ:PL 0/1:49,31:80:99:953,0,1522
3 111926909 rs1492491 G A 367.96 PASS AB=0.478;AC=1;AF=0.50;AN=2;BaseQRankSum=0.646;DB;DP=23;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9159;MQ=60.0;MQ0=0;MQRankSum=0.831;QD=16.0;ReadPosRankSum=1.385;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000305815 GT:AD:DP:GQ:PL 0/1:11,12:23:99:398,0,374
3 111926950 rs17505536 G A 598.17 PASS AB=0.549;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.164;DB;DP=51;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=59.09;MQ0=0;MQRankSum=-0.274;QD=11.73;ReadPosRankSum=0.71;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000305815 GT:AD:DP:GQ:PL 0/1:28,23:51:99:628,0,993
3 111936118 rs11921877 A G 69.28 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.55;QD=9.9;ReadPosRankSum=0.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000305815 GT:AD:DP:GQ:PL 0/1:4,3:7:99:99,0,144
3 111936200 rs1388857 C A 378.03 PASS AB=0.483;AC=1;AF=0.50;AN=2;BaseQRankSum=2.204;DB;DP=29;Dels=0.0;FS=0.0;HRun=6;HaplotypeScore=0.0;MQ=59.2;MQ0=0;MQRankSum=-0.24;QD=13.04;ReadPosRankSum=-0.589;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000305815 GT:AD:DP:GQ:PL 0/1:14,15:29:99:408,0,494
3 111936207 rs6779306 T A 349.69 PASS AB=0.514;AC=1;AF=0.50;AN=2;BaseQRankSum=3.874;DB;DP=37;Dels=0.0;FS=0.0;HRun=6;HaplotypeScore=0.0;MQ=59.38;MQ0=0;MQRankSum=-0.623;QD=9.45;ReadPosRankSum=0.076;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000305815 GT:AD:DP:GQ:PL 0/1:19,18:37:99:380,0,612
3 111936491 rs9288939 A G 261.64 PASS AB=0.55;AC=1;AF=0.50;AN=2;BaseQRankSum=0.152;DB;DP=20;Dels=0.0;FS=3.197;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.38;QD=13.08;ReadPosRankSum=-0.456;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000305815 GT:AD:DP:GQ:PL 0/1:11,9:20:99:292,0,308
3 111936564 rs9288940 G A 100.07 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.731;QD=20.01;ReadPosRankSum=0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000305815 GT:AD:DP:GQ:PL 0/1:1,4:5:26.20:130,0,26
3 111950367 rs55735606 C G 351.36 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000305815 GT:AD:DP:GQ:PL 1/1:0,10:10:27.09:384,27,0
3 111958577 rs10511310 C T 89.26 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.75;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000305815 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:121,9,0
3 111983157 rs62276974 G A 222.92 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.298;DB;DP=15;Dels=0.0;FS=2.363;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.648;QD=14.86;ReadPosRankSum=-1.237;SNPEFF_AMINO_ACID_CHANGE=L304;SNPEFF_CODON_CHANGE=ctC/ctT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_111983047_111983190;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A10;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000305815 GT:AD:DP:GQ:PL 0/1:6,9:15:99:253,0,217
3 111984970 rs4682098 T C 685.31 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.78;MQ0=0;QD=36.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000305815 GT:AD:DP:GQ:PL 1/1:0,19:19:54.15:718,54,0
3 111993716 rs6805112 G A 1097.85 PASS AB=0.493;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.273;DB;DP=75;Dels=0.0;FS=3.237;HRun=1;HaplotypeScore=0.0;MQ=59.69;MQ0=0;MQRankSum=-0.419;QD=14.64;ReadPosRankSum=-1.266;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467397 GT:AD:DP:GQ:PL 0/1:37,38:75:99:1128,0,1146
3 111996726 rs6791182 A G 737.27 PASS AB=0.547;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.01;DB;DP=53;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9933;MQ=60.0;MQ0=0;MQRankSum=0.688;QD=13.91;ReadPosRankSum=-0.134;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467397 GT:AD:DP:GQ:PL 0/1:29,24:53:99:767,0,833
3 112005691 rs79950192 C G 61.77 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=1.294;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.109;QD=5.15;ReadPosRankSum=-0.555;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_3_112005551_112005726;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A10;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000471295 GT:AD:DP:GQ:PL 0/1:9,3:12:91.77:92,0,327
3 112052103 rs2276772 G T 83.46 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.82;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CD200;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315711 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:115,9,0
3 112052173 rs9883527 T C 37.45 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CD200;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315711 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:69,6,0
3 112063850 rs2272022 C A 2311.62 PASS AC=2;AF=1.00;AN=2;DB;DP=70;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.734;MQ=59.4;MQ0=0;QD=33.02;SNPEFF_AMINO_ACID_CHANGE=P46T;SNPEFF_CODON_CHANGE=Cct/Act;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_112063809_112064135;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CD200;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000315711 GT:AD:DP:GQ:PL 1/1:0,70:70:99:2345,184,0
3 112066141 rs13098589 C T 73.66 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CD200;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315711 GT:AD:DP:GQ:PL 1/1:0,3:3:9.02:106,9,0
3 112073133 rs34345145 T C 1056.83 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.34;MQ0=0;QD=30.2;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CD200;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000498096 GT:AD:DP:GQ:PL 1/1:1,34:35:84.26:1090,84,0
3 112184927 rs2171513 A G 1836.88 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.02;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BTLA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000383680 GT:AD:DP:GQ:PL 1/1:0,54:54:99:1870,135,0
3 112185025 rs9288952 G A 2329.70 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.77;SNPEFF_AMINO_ACID_CHANGE=P219L;SNPEFF_CODON_CHANGE=cCg/cTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_112184955_112185230;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BTLA;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000383680 GT:AD:DP:GQ:PL 1/1:0,67:67:99:2363,172,0
3 112188478 rs11267594 A AGTACATAGAATATGTATATAC 2171.81 PASS AC=2;AF=1.00;AN=2;DB;DP=14;FS=0.0;HRun=0;HaplotypeScore=173.3377;IndelType=I;MQ=48.88;MQ0=0;QD=155.13;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BTLA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000496584 GT:AD:DP:GQ:PL 1/1:0,3:14:42.14:2214,42,0
3 112190137 rs2931761 G T 1387.99 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.45;MQ0=0;QD=33.05;SNPEFF_AMINO_ACID_CHANGE=R157S;SNPEFF_CODON_CHANGE=Cgt/Agt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_112190059_112190202;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BTLA;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000334529 GT:AD:DP:GQ:PL 1/1:0,42:42:99:1421,105,0
3 112243635 rs2933141 T C 2935.36 PASS AB=0.453;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.364;DB;DP=181;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=58.94;MQ0=0;MQRankSum=1.144;QD=16.22;ReadPosRankSum=1.386;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=OR7E100P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000489105 GT:AD:DP:GQ:PL 0/1:82,99:181:99:2965,0,2545
3 112243924 rs6772077 C T 1189.32 PASS AB=0.427;AC=1;AF=0.50;AN=2;BaseQRankSum=2.78;DB;DP=82;Dels=0.0;FS=3.098;HRun=0;HaplotypeScore=0.8667;MQ=57.06;MQ0=0;MQRankSum=0.273;QD=14.5;ReadPosRankSum=-0.158;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=OR7E100P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000489105 GT:AD:DP:GQ:PL 0/1:35,47:82:99:1219,0,890
3 112253058 rs72243791 C CA 1059.74 PASS AB=0.681;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.496;DB;DP=96;FS=6.04;HRun=10;HaplotypeScore=259.424;IndelType=I;MQ=57.95;MQ0=0;MQRankSum=0.079;QD=11.04;ReadPosRankSum=0.107;SNPEFF_EFFECT=FRAME_SHIFT;SNPEFF_EXON_ID=exon_3_112251357_112253184;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATG3;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000402314 GT:AD:DP:GQ:PL 0/1:49,44:96:99:1099,0,703
3 112253193 rs67364662 C CA 406.28 PASS AB=0.783;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.867;DB;DP=93;FS=0.0;HRun=14;HaplotypeScore=530.5569;IndelType=I;MQ=55.1;MQ0=0;MQRankSum=-0.161;QD=4.32;ReadPosRankSum=-1.879;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATG3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467275 GT:AD:DP:GQ:PL 0/1:61,22:93:99:445,0,413
3 112255507 rs71317507 G A 111.16 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.467;DB;DP=14;Dels=0.0;FS=2.963;HRun=0;HaplotypeScore=0.9947;MQ=58.33;MQ0=0;MQRankSum=-1.067;QD=7.94;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATG3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467275 GT:AD:DP:GQ:PL 0/1:9,5:14:99:141,0,260
3 112260571 rs3736269 G A 196.29 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=2.358;DB;DP=24;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9469;MQ=59.22;MQ0=0;MQRankSum=0.521;QD=8.18;ReadPosRankSum=1.378;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATG3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465980 GT:AD:DP:GQ:PL 0/1:16,8:24:99:226,0,571
3 112262859 rs3736270 A C 494.34 PASS AB=0.528;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.492;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.017;QD=13.73;ReadPosRankSum=-1.634;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATG3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283290 GT:AD:DP:GQ:PL 0/1:19,17:36:99:524,0,628
3 112262957 rs3736271 T C 679 PASS AB=0.509;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.384;DB;DP=55;Dels=0.0;FS=2.391;HRun=0;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=-1.099;QD=12.35;ReadPosRankSum=0.113;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATG3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283290 GT:AD:DP:GQ:PL 0/1:28,27:55:99:709,0,897
3 112267269 rs7625366 T C 140.99 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=0.135;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=1.134;QD=11.75;ReadPosRankSum=0.529;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATG3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283290 GT:AD:DP:GQ:PL 0/1:7,5:12:99:171,0,243
3 112267345 rs68165045 TA T 531.53 PASS AB=0.635;AC=1;AF=0.50;AN=2;BaseQRankSum=2.298;DB;DP=33;FS=3.081;HRun=3;HaplotypeScore=100.053;IndelType=D;MQ=60.33;MQ0=0;MQRankSum=-0.741;QD=16.11;ReadPosRankSum=0.133;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATG3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283290 GT:AD:DP:GQ:PL 0/1:14,19:33:99:571,0,509
3 112267523 rs9809247 G A 354.39 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.202;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.03;MQ0=0;MQRankSum=1.588;QD=14.77;ReadPosRankSum=-1.299;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATG3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283290 GT:AD:DP:GQ:PL 0/1:12,12:24:99:384,0,430
3 112269287 rs2705520 A G 193.79 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.68;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATG3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283290 GT:AD:DP:GQ:PL 1/1:0,7:7:18.03:227,18,0
3 112280218 rs2279532 G A 34.84 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.38;QD=5.81;ReadPosRankSum=0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATG3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283290 GT:AD:DP:GQ:PL 0/1:4,2:6:64.83:65,0,113
3 112289320 rs9869455 G A 551.44 PASS AB=0.394;AC=1;AF=0.50;AN=2;BaseQRankSum=1.382;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.6671;MQ=60.0;MQ0=0;MQRankSum=1.382;QD=16.71;ReadPosRankSum=1.861;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC35A5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468642 GT:AD:DP:GQ:PL 0/1:13,20:33:99:581,0,328
3 112289372 rs9869579 G A 976.93 PASS AB=0.442;AC=1;AF=0.50;AN=2;BaseQRankSum=2.69;DB;DP=52;Dels=0.0;FS=3.85;HRun=0;HaplotypeScore=1.9312;MQ=59.64;MQ0=0;MQRankSum=0.332;QD=18.79;ReadPosRankSum=-0.903;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC35A5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468642 GT:AD:DP:GQ:PL 0/1:23,29:52:99:1007,0,635
3 112289505 rs35692417 C T 661.78 PASS AB=0.597;AC=1;AF=0.50;AN=2;BaseQRankSum=2.295;DB;DP=67;Dels=0.0;FS=3.41;HRun=1;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=1.809;QD=9.88;ReadPosRankSum=0.952;SNPEFF_AMINO_ACID_CHANGE=S116;SNPEFF_CODON_CHANGE=tcC/tcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_112289387_112289517;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC35A5;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000484995 GT:AD:DP:GQ:PL 0/1:40,27:67:99:692,0,1135
3 112289576 rs11411476 A ATT 186.53 PASS AB=0.765;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.032;DB;DP=26;FS=0.0;HRun=13;HaplotypeScore=94.9404;IndelType=I;MQ=60.0;MQ0=0;MQRankSum=2.162;QD=7.17;ReadPosRankSum=1.13;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC35A5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468642 GT:AD:DP:GQ:PL 0/1:18,7:26:99:226,0,328
3 112300191 rs34596334 T C 342.82 PASS AB=0.577;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.889;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9998;MQ=60.0;MQ0=0;MQRankSum=-0.411;QD=13.19;ReadPosRankSum=0.739;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC35A5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460615 GT:AD:DP:GQ:PL 0/1:15,11:26:99:373,0,439
3 112301458 rs5851844 C CCTTAGTAAT 3211.99 PASS AC=2;AF=1.00;AN=2;DB;DP=25;FS=0.0;HRun=0;HaplotypeScore=143.6248;IndelType=I;MQ=35.72;MQ0=0;QD=128.48;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC35A5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460615 GT:AD:DP:GQ:PL 1/1:9,13:25:72.25:3254,72,0
3 112338027 rs13084615 T C 39.84 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.026;QD=9.96;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC80;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000206423 GT:AD:DP:GQ:PL 0/1:2,2:4:69.84:70,0,72
3 112356770 rs2279531 T C 733 PASS AB=0.389;AC=1;AF=0.50;AN=2;BaseQRankSum=2.125;DB;DP=36;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.83;MQ0=0;MQRankSum=0.146;QD=20.36;ReadPosRankSum=-0.406;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC80;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469554 GT:AD:DP:GQ:PL 0/1:14,22:36:99:763,0,441
3 112415652 rs10934180 G C 54.41 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.52;MQ0=0;QD=27.21;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP11-572C15.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477975 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:86,6,0
3 112538571 rs67122051 CT C 582.57 PASS AC=2;AF=1.00;AN=2;DB;DP=27;FS=0.0;HRun=10;HaplotypeScore=89.4669;IndelType=D;MQ=60.35;MQ0=0;QD=21.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD200R1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398214 GT:AD:DP:GQ:PL 1/1:2,24:27:71.97:625,72,0
3 112546473 rs1997281 G A 2483.45 PASS AC=2;AF=1.00;AN=2;DB;DP=72;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.6651;MQ=49.72;MQ0=0;QD=34.49;SNPEFF_AMINO_ACID_CHANGE=I36;SNPEFF_CODON_CHANGE=atC/atT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_112546214_112546531;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD200R1L;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000448932 GT:AD:DP:GQ:PL 1/1:0,72:72:99:2516,196,0
3 112642568 rs9865242 C G 1127.32 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.23;SNPEFF_AMINO_ACID_CHANGE=E312Q;SNPEFF_CODON_CHANGE=Gag/Cag;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_112640056_112642646;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD200R1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000471858 GT:AD:DP:GQ:PL 1/1:0,32:32:84.25:1160,84,0
3 112647613 rs1466872 T C 549.76 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.54;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD200R1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000440122 GT:AD:DP:GQ:PL 1/1:0,18:18:51.10:583,51,0
3 112647832 rs9826308 A C 1583.30 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.5774;MQ=59.46;MQ0=0;QD=36.82;SNPEFF_AMINO_ACID_CHANGE=H155Q;SNPEFF_CODON_CHANGE=caT/caG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_112647663_112647911;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD200R1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000295863 GT:AD:DP:GQ:PL 1/1:0,43:43:99:1616,117,0
3 112647988 rs9868053 C T 1208.38 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.98;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD200R1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295863 GT:AD:DP:GQ:PL 1/1:0,31:31:90.30:1241,90,0
3 112648222 rs2171509 T C 1979.62 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.105;DB;DP=66;Dels=0.0;FS=3.078;HRun=1;HaplotypeScore=0.0;MQ=50.96;MQ0=0;MQRankSum=0.315;QD=29.99;ReadPosRankSum=0.682;SNPEFF_AMINO_ACID_CHANGE=K112R;SNPEFF_CODON_CHANGE=aAg/aGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_112648037_112648354;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD200R1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000308611 GT:AD:DP:GQ:PL 1/1:1,65:66:99:2013,130,0
3 112666542 rs1392786 T C 89.85 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.95;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD200R1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295863 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:122,9,0
3 112666859 rs2133946 C T 312.35 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.24;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD200R1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295863 GT:AD:DP:GQ:PL 1/1:0,10:10:27.09:345,27,0
3 112709828 rs2272393 C G 329.98 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.0;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GTPBP8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295864 GT:AD:DP:GQ:PL 1/1:0,11:11:30.09:363,30,0
3 112718608 rs10155015 G A 225.74 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.08;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000314400 GT:AD:DP:GQ:PL 1/1:0,9:9:21.06:259,21,0
3 112719791 rs34779191 CA C 39.87 QDFilter2 AB=0.762;AC=1;AF=0.50;AN=2;BaseQRankSum=0.489;DB;DP=32;FS=0.0;HRun=16;HaplotypeScore=167.2921;IndelType=D;MQ=56.8;MQ0=0;MQRankSum=0.311;QD=1.25;ReadPosRankSum=1.022;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000314400 GT:AD:DP:GQ:PL 0/1:22,9:32:78.90:79,0,197
3 112727184 rs2306857 A T 1404.69 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;QD=33.45;SNPEFF_AMINO_ACID_CHANGE=F221I;SNPEFF_CODON_CHANGE=Ttt/Att;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_112727018_112727277;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf17;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000393857 GT:AD:DP:GQ:PL 1/1:0,42:42:99:1438,108,0
3 112727462 rs3872609 C T 152.91 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.58;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460410 GT:AD:DP:GQ:PL 1/1:0,5:5:15.03:186,15,0
3 112729768 rs2293562 A T 427.01 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.2;MQ0=0;QD=32.85;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460410 GT:AD:DP:GQ:PL 1/1:0,13:13:36.11:460,36,0
3 112732309 rs72226879 GT G 463.59 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.311;DB;DP=51;FS=0.0;HRun=14;HaplotypeScore=269.3074;IndelType=D;MQ=57.1;MQ0=0;MQRankSum=0.449;QD=9.09;ReadPosRankSum=-0.656;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000314400 GT:AD:DP:GQ:PL 1/1:23,22:51:42.15:506,42,0
3 112738318 rs2293560 C T 89.90 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.97;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GTPBP8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485330 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:122,9,0
3 112738625 rs7633507 C T 93.02 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.01;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GTPBP8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485330 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:125,9,0
3 112744217 rs28764907 A G 107.12 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=22.4;MQ0=1;QD=13.39;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=antisense;SNPEFF_GENE_NAME=RP11-572M11.4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460707 GT:AD:DP:GQ:PL 1/1:0,8:8:12.03:140,12,0
3 112991196 rs3930154 C G 715.57 PASS AB=0.509;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.393;DB;DP=53;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.558;QD=13.5;ReadPosRankSum=0.21;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BOC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471963 GT:AD:DP:GQ:PL 0/1:27,26:53:99:746,0,814
3 113010303 rs17321330 G A 564.65 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.75;MQ0=0;QD=37.64;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BOC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273395 GT:AD:DP:GQ:PL 1/1:0,15:15:45.13:598,45,0
3 113010466 rs2291905 T C 2208.59 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.65;MQ0=0;QD=33.46;SNPEFF_AMINO_ACID_CHANGE=S1835G;SNPEFF_CODON_CHANGE=Agt/Ggt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_113005777_113010595;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR52;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000393845 GT:AD:DP:GQ:PL 1/1:0,66:66:99:2242,172,0
3 113012797 rs810209 G A 399.54 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.32;SNPEFF_EFFECT=SPLICE_SITE_DONOR;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR52;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000308346 GT:AD:DP:GQ:PL 1/1:0,11:11:33.11:433,33,0
3 113012974 rs775217 A G 750.51 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.25;MQ0=0;QD=30.02;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR52;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465510 GT:AD:DP:GQ:PL 1/1:0,25:25:66.18:784,66,0
3 113015436 rs808949 G C 614.01 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR52;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000308346 GT:AD:DP:GQ:PL 1/1:0,19:19:48.16:647,48,0
3 113015553 rs808950 A C 4843.30 PASS AC=2;AF=1.00;AN=2;DB;DP=159;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=59.86;MQ0=0;QD=30.46;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR52;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000308346 GT:AD:DP:GQ:PL 1/1:0,159:159:99:4843,391,0
3 113022870 rs4682484 T C 3306.82 PASS AC=2;AF=1.00;AN=2;DB;DP=101;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.54;MQ0=0;QD=32.74;SNPEFF_AMINO_ACID_CHANGE=H1657R;SNPEFF_CODON_CHANGE=cAt/cGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_113022763_113022964;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR52;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000393845 GT:AD:DP:GQ:PL 1/1:0,101:101:99:3307,262,0
3 113022996 rs2270782 G A 1451.92 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.49;MQ0=0;QD=32.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR52;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000308346 GT:AD:DP:GQ:PL 1/1:0,44:45:99:1485,111,0
3 113027214 rs775231 A C 262.22 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.87;MQ0=0;QD=23.84;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR52;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000308346 GT:AD:DP:GQ:PL 1/1:0,11:11:24.06:295,24,0
3 113099461 rs10934228 C G 93.64 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.73;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WDR52;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475568 GT:AD:DP:GQ:PL 1/1:0,5:5:9.03:126,9,0
3 113172110 rs13091945 T C 135.20 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.04;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPICE1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295872 GT:AD:DP:GQ:PL 1/1:0,5:5:15.04:168,15,0
3 113322006 rs17325765 T G 273.63 PASS AB=0.594;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.113;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.576;QD=8.55;ReadPosRankSum=0.614;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SIDT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468728 GT:AD:DP:GQ:PL 0/1:19,13:32:99:304,0,660
3 113322618 rs77823673 A G 77.94 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.727;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=15.59;ReadPosRankSum=-0.727;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SIDT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468728 GT:AD:DP:GQ:PL 0/1:1,3:5:30.61:108,0,31
3 113373930 rs930818 A G 1152.31 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.89;SNPEFF_AMINO_ACID_CHANGE=V2200A;SNPEFF_CODON_CHANGE=gTg/gCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_113367232_113380272;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA2018;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000316407 GT:AD:DP:GQ:PL 1/1:0,34:34:90.28:1185,90,0
3 113376110 rs67441078 TTGC T 528.76 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.456;DB;DP=35;FS=0.0;HRun=0;HaplotypeScore=204.4221;IndelType=D;MQ=53.51;MQ0=0;MQRankSum=0.639;QD=15.11;ReadPosRankSum=0.456;SNPEFF_AMINO_ACID_CHANGE=QQ1472Q;SNPEFF_CODON_CHANGE=cagcaa/caa;SNPEFF_EFFECT=CODON_CHANGE_PLUS_CODON_DELETION;SNPEFF_EXON_ID=exon_3_113367232_113380272;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA2018;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000316407 GT:AD:DP:GQ:PL 1/1:16,14:35:48.13:571,48,0
3 113377361 rs9813630 A G 1348.33 PASS AB=0.352;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.028;DB;DP=71;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.4105;MQ=59.35;MQ0=0;MQRankSum=-0.03;QD=18.99;ReadPosRankSum=-0.463;SNPEFF_AMINO_ACID_CHANGE=N1056;SNPEFF_CODON_CHANGE=aaT/aaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_113367232_113380272;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA2018;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000316407 GT:AD:DP:GQ:PL 0/1:25,46:71:99:1378,0,741
3 113379865 rs9866806 G C 261.87 PASS AB=0.577;AC=1;AF=0.50;AN=2;BaseQRankSum=1.068;DB;DP=26;Dels=0.0;FS=3.831;HRun=1;HaplotypeScore=0.9469;MQ=58.2;MQ0=0;MQRankSum=0.63;QD=10.07;ReadPosRankSum=1.56;SNPEFF_AMINO_ACID_CHANGE=P222A;SNPEFF_CODON_CHANGE=Cct/Gct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_113367232_113380272;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA2018;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000316407 GT:AD:DP:GQ:PL 0/1:15,11:26:99:292,0,473
3 113380332 rs3796254 T C 239.68 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.224;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.6617;MQ=57.23;MQ0=0;MQRankSum=0.337;QD=14.1;ReadPosRankSum=0.048;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA2018;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000316407 GT:AD:DP:GQ:PL 0/1:8,9:17:99:270,0,272
3 113442198 rs3732793 C A 218.05 PASS AB=0.385;AC=1;AF=0.50;AN=2;BaseQRankSum=0.212;DB;DP=13;Dels=0.0;FS=3.123;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.271;QD=16.77;ReadPosRankSum=-0.437;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NAA50;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467022 GT:AD:DP:GQ:PL 0/1:5,8:13:99:248,0,174
3 113464859 rs1048892 A G 141.98 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.278;DB;DP=11;Dels=0.0;FS=3.09;HRun=2;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=1.034;QD=12.91;ReadPosRankSum=-1.246;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NAA50;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467022 GT:AD:DP:GQ:PL 0/1:4,7:11:99:172,0,133
3 113503354 rs2305546 A G 290.40 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.311;DB;DP=18;Dels=0.0;FS=7.375;HRun=0;HaplotypeScore=0.5784;MQ=58.71;MQ0=0;MQRankSum=0.666;QD=16.13;ReadPosRankSum=-0.4;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP6V1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273398 GT:AD:DP:GQ:PL 0/1:8,10:18:99:320,0,280
3 113508499 rs11385012 T TA 231.14 PASS AB=0.686;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.739;DB;DP=24;FS=0.0;HRun=11;HaplotypeScore=90.5882;IndelType=I;MQ=61.34;MQ0=0;MQRankSum=1.091;QD=9.63;ReadPosRankSum=-2.218;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP6V1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475322 GT:AD:DP:GQ:PL 0/1:13,11:24:99:270,0,169
3 113522544 rs13321446 T C 956.72 PASS AB=0.494;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.13;DB;DP=88;Dels=0.0;FS=2.608;HRun=2;HaplotypeScore=0.9832;MQ=59.48;MQ0=0;MQRankSum=1.14;QD=10.87;ReadPosRankSum=2.228;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP6V1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273398 GT:AD:DP:GQ:PL 0/1:43,44:88:99:987,0,1496
3 113524114 rs191478929 A G 85.05 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.386;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9894;MQ=60.0;MQ0=0;MQRankSum=0.231;QD=6.08;ReadPosRankSum=-1.003;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP6V1A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273398 GT:AD:DP:GQ:PL 0/1:10,4:14:99:115,0,332
3 113524266 . G C 163.32 FSFilter60 AB=0.659;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.464;DP=44;Dels=0.0;FS=62.183;HRun=1;HaplotypeScore=1.9648;MQ=50.34;MQ0=0;MQRankSum=-3.099;QD=3.71;ReadPosRankSum=-0.746;SNPEFF_AMINO_ACID_CHANGE=R269P;SNPEFF_CODON_CHANGE=cGt/cCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_113524201_113524372;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP6V1A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000545842 GT:AD:DP:GQ:PL 0/1:29,15:44:99:193,0,1000
3 113557690 rs9990079 G A 49.10 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=9.82;ReadPosRankSum=0.727;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GRAMD1C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479212 GT:AD:DP:GQ:PL 0/1:2,3:5:24.11:79,0,24
3 113594377 rs13079383 A G 828.21 PASS AB=0.516;AC=1;AF=0.50;AN=2;BaseQRankSum=3.482;DB;DP=62;Dels=0.0;FS=5.239;HRun=0;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=0.968;QD=13.36;ReadPosRankSum=0.968;SNPEFF_AMINO_ACID_CHANGE=L102;SNPEFF_CODON_CHANGE=ctA/ctG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_113594331_113594434;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GRAMD1C;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000358160 GT:AD:DP:GQ:PL 0/1:32,30:62:99:858,0,906
3 113594577 rs10662527 C CAT 384.61 PASS AC=2;AF=1.00;AN=2;DB;DP=7;FS=0.0;HRun=0;HaplotypeScore=14.7907;IndelType=I;MQ=60.44;MQ0=0;QD=54.94;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GRAMD1C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358160 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:427,21,0
3 113595156 rs2712350 C G 2132.74 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.63;MQ0=0;QD=33.85;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GRAMD1C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000498183 GT:AD:DP:GQ:PL 1/1:0,63:63:99:2166,163,0
3 113595269 rs13096064 A G 170.47 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=1.872;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=-0.839;QD=12.18;ReadPosRankSum=-0.839;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GRAMD1C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000498183 GT:AD:DP:GQ:PL 0/1:8,6:14:99:200,0,266
3 113601761 rs62265406 T A 236.25 PASS AB=0.438;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.329;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=2.223;QD=14.77;ReadPosRankSum=0.847;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GRAMD1C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358160 GT:AD:DP:GQ:PL 0/1:7,9:16:99:266,0,243
3 113619872 rs2632244 C T 3202.03 PASS AC=2;AF=1.00;AN=2;DB;DP=92;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=59.75;MQ0=0;QD=34.8;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GRAMD1C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358160 GT:AD:DP:GQ:PL 1/1:0,91:92:99:3235,247,0
3 113655207 rs3765114 C T 1225.20 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.348;DB;DP=105;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.517;QD=11.67;ReadPosRankSum=-0.918;SNPEFF_AMINO_ACID_CHANGE=N246;SNPEFF_CODON_CHANGE=aaC/aaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_113655113_113655289;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GRAMD1C;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000452134 GT:AD:DP:GQ:PL 0/1:56,49:105:99:1255,0,1694
3 113659308 rs2029228 G C 284.41 PASS AB=0.353;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.34;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.6517;MQ=58.63;MQ0=0;MQRankSum=1.246;QD=16.73;ReadPosRankSum=0.453;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GRAMD1C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462838 GT:AD:DP:GQ:PL 0/1:6,11:17:99:314,0,134
3 113664183 rs138608067 CAG C 170.53 PASS AB=0.786;AC=1;AF=0.50;AN=2;BaseQRankSum=3.059;DB;DP=22;FS=0.0;HRun=0;HaplotypeScore=65.4052;IndelType=D;MQ=60.0;MQ0=0;MQRankSum=0.111;QD=7.75;ReadPosRankSum=1.364;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=GRAMD1C;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358160 GT:AD:DP:GQ:PL 0/1:16,6:22:99:210,0,853
3 113672409 rs7615622 A G 165.88 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.18;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZDHHC23;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000330212 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:199,15,0
3 113673125 rs11921691 A G 2130.34 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.29;SNPEFF_AMINO_ACID_CHANGE=K241R;SNPEFF_CODON_CHANGE=aAg/aGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_113672547_113673257;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZDHHC23;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000498275 GT:AD:DP:GQ:PL 1/1:0,64:64:99:2163,163,0
3 113675026 rs62265439 A G 104.63 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.92;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.05;MQ0=0;MQRankSum=0.322;QD=13.08;ReadPosRankSum=0.322;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZDHHC23;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491556 GT:AD:DP:GQ:PL 0/1:3,5:8:96.92:135,0,97
3 113676900 rs62265440 A T 76.19 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=19.05;ReadPosRankSum=0.727;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZDHHC23;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491556 GT:AD:DP:GQ:PL 0/1:1,3:4:27.28:106,0,27
3 113679589 rs12629415 C A 554.88 PASS AB=0.521;AC=1;AF=0.50;AN=2;BaseQRankSum=3.617;DB;DP=48;Dels=0.0;FS=8.268;HRun=0;HaplotypeScore=2.7831;MQ=59.61;MQ0=0;MQRankSum=1.286;QD=11.56;ReadPosRankSum=-1.11;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA1407;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295878 GT:AD:DP:GQ:PL 0/1:25,23:48:99:585,0,724
3 113679725 rs3732785 C T 320.56 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.62;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA1407;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295878 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:354,27,0
3 113720517 rs6784095 T A 902.66 PASS AB=0.65;AC=1;AF=0.50;AN=2;BaseQRankSum=1.029;DB;DP=103;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9894;MQ=59.59;MQ0=0;MQRankSum=1.748;QD=8.76;ReadPosRankSum=1.064;SNPEFF_AMINO_ACID_CHANGE=E696D;SNPEFF_CODON_CHANGE=gaA/gaT;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_113720442_113720543;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA1407;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000295878 GT:AD:DP:GQ:PL 0/1:67,36:103:99:933,0,1953
3 113720624 rs6438178 C T 941.77 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.05;MQ0=0;QD=39.24;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA1407;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481358 GT:AD:DP:GQ:PL 1/1:0,24:24:72.24:975,72,0
3 113730108 rs324555 C T 32.11 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.358;QD=6.42;ReadPosRankSum=0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA1407;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295878 GT:AD:DP:GQ:PL 0/1:3,2:5:62.10:62,0,107
3 113784007 rs34428541 A AT 186.01 PASS AB=0.732;AC=1;AF=0.50;AN=2;BaseQRankSum=0.247;DB;DP=30;FS=0.0;HRun=12;HaplotypeScore=134.5158;IndelType=I;MQ=57.85;MQ0=0;MQRankSum=-0.652;QD=6.2;ReadPosRankSum=-1.641;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=QTRTD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281273 GT:AD:DP:GQ:PL 0/1:19,10:30:99:225,0,307
3 113785149 rs3830297 ATATGT A 314.29 PASS AB=0.793;AC=1;AF=0.50;AN=2;BaseQRankSum=3.059;DB;DP=22;FS=2.326;HRun=0;HaplotypeScore=112.0493;IndelType=D;MQ=56.6;MQ0=1;MQRankSum=-0.627;QD=13.66;ReadPosRankSum=-1.143;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=QTRTD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281273 GT:AD:DP:GQ:PL 0/1:16,6:22:99:353,0,1533
3 113795834 rs7631864 G A 308.53 PASS AB=0.522;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.293;DB;DP=23;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-2.062;QD=13.41;ReadPosRankSum=0.092;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=QTRTD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000482307 GT:AD:DP:GQ:PL 0/1:12,11:23:99:339,0,444
3 113795858 rs41271381 T A 264.93 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.501;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.265;QD=14.72;ReadPosRankSum=-0.706;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=QTRTD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000482307 GT:AD:DP:GQ:PL 0/1:9,9:18:99:295,0,324
3 113858201 rs2134655 C T 166.89 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.493;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9989;MQ=60.0;MQ0=0;MQRankSum=-1.2;QD=12.84;ReadPosRankSum=1.656;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DRD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281274 GT:AD:DP:GQ:PL 0/1:7,6:13:99:197,0,249
3 113858350 rs2251177 C T 3556.02 PASS AC=2;AF=1.00;AN=2;DB;DP=98;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=3.673;MQ=59.29;MQ0=0;QD=36.29;SNPEFF_AMINO_ACID_CHANGE=Q240;SNPEFF_CODON_CHANGE=caG/caA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_113858347_113858543;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DRD3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000281274 GT:AD:DP:GQ:PL 1/1:0,97:98:99:3556,274,0
3 113890310 rs16822416 G A 78.80 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=19.7;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DRD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000281274 GT:AD:DP:GQ:PL 0/1:1,3:4:22.31:109,0,22
3 113890789 rs3732783 T C 83.09 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.383;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.66;MQ0=0;MQRankSum=0.365;QD=8.31;ReadPosRankSum=0.365;SNPEFF_AMINO_ACID_CHANGE=A17;SNPEFF_CODON_CHANGE=gcA/gcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_113890570_113890874;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DRD3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000281274 GT:AD:DP:GQ:PL 0/1:6,4:10:99:113,0,220
3 113890815 rs6280 C T 94.48 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.55;DB;DP=7;Dels=0.0;FS=3.68;HRun=0;HaplotypeScore=0.9469;MQ=56.62;MQ0=0;MQRankSum=-0.55;QD=13.5;ReadPosRankSum=-0.55;SNPEFF_AMINO_ACID_CHANGE=G9S;SNPEFF_CODON_CHANGE=Ggc/Agc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_113890570_113890874;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DRD3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000281274 GT:AD:DP:GQ:PL 0/1:3,4:7:94.78:124,0,95
3 113955055 rs11346654 GA G 749.57 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.629;DB;DP=52;FS=0.0;HRun=13;HaplotypeScore=203.0935;IndelType=D;MQ=58.18;MQ0=0;MQRankSum=-1.087;QD=14.41;ReadPosRankSum=-0.82;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ZNF80;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000308095 GT:AD:DP:GQ:PL 1/1:13,38:52:34.95:792,35,0
3 113955164 rs3732782 T G 2253.85 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.55;MQ0=0;QD=35.22;SNPEFF_AMINO_ACID_CHANGE=D253A;SNPEFF_CODON_CHANGE=gAc/gCc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_113953487_113956425;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ZNF80;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000482457 GT:AD:DP:GQ:PL 1/1:0,64:64:99:2287,169,0
3 113955187 rs3732781 A C 936.67 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.26;DB;DP=58;Dels=0.0;FS=1.033;HRun=1;HaplotypeScore=0.0;MQ=58.8;MQ0=0;MQRankSum=0.109;QD=16.15;ReadPosRankSum=0.124;SNPEFF_AMINO_ACID_CHANGE=Y245*;SNPEFF_CODON_CHANGE=taT/taG;SNPEFF_EFFECT=STOP_GAINED;SNPEFF_EXON_ID=exon_3_113953487_113956425;SNPEFF_FUNCTIONAL_CLASS=NONSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ZNF80;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000482457 GT:AD:DP:GQ:PL 0/1:29,29:58:99:967,0,949
3 113955265 rs6438190 G A 1780.19 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9958;MQ=59.54;MQ0=0;QD=35.6;SNPEFF_AMINO_ACID_CHANGE=C219;SNPEFF_CODON_CHANGE=tgC/tgT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_113953487_113956425;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ZNF80;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000482457 GT:AD:DP:GQ:PL 1/1:1,49:50:99:1813,138,0
3 113955320 rs6438191 C T 1921.67 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.58;MQ0=0;QD=34.94;SNPEFF_AMINO_ACID_CHANGE=R201H;SNPEFF_CODON_CHANGE=cGc/cAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_113953487_113956425;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ZNF80;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000482457 GT:AD:DP:GQ:PL 1/1:0,55:55:99:1955,153,0
3 113956021 rs6770874 G A 280.75 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.625;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.048;QD=16.51;ReadPosRankSum=-1.203;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_3_113954569_113956425;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ZNF80;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000308095 GT:AD:DP:GQ:PL 0/1:8,9:17:99:311,0,238
3 114026553 rs7639194 A G 131.54 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.31;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TIGIT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000383671 GT:AD:DP:GQ:PL 1/1:0,5:5:15.02:164,15,0
3 115382655 rs28399377 C T 1296.89 PASS AB=0.425;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.736;DB;DP=73;Dels=0.0;FS=2.019;HRun=0;HaplotypeScore=0.0;MQ=59.43;MQ0=0;MQRankSum=-0.314;QD=17.77;ReadPosRankSum=0.029;SNPEFF_AMINO_ACID_CHANGE=H10;SNPEFF_CODON_CHANGE=caC/caT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_115382368_115382763;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GAP43;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000393780 GT:AD:DP:GQ:PL 0/1:31,42:73:99:1327,0,923
3 115394705 rs982206 T C 247.60 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GAP43;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000305124 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:281,21,0
3 115401993 . C T 324.05 HaplotypeScoreFilter13 AB=0.543;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.657;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=48.4263;MQ=49.87;MQ0=0;MQRankSum=0.235;QD=9.26;ReadPosRankSum=1.573;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GAP43;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000305124 GT:AD:DP:GQ:PL 0/1:19,16:35:82.42:354,0,82
3 115401994 . GCACA G 337.85 PASS AB=0.773;AC=1;AF=0.50;AN=2;BaseQRankSum=0.778;DP=34;FS=0.0;HRun=0;HaplotypeScore=334.3737;IndelType=D;MQ=49.54;MQ0=0;MQRankSum=1.983;QD=9.94;ReadPosRankSum=1.431;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GAP43;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000305124 GT:AD:DP:GQ:PL 0/1:24,10:34:99:377,0,826
3 115561099 rs35893352 G A 37.98 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=9.5;ReadPosRankSum=-1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LSAMP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000333617 GT:AD:DP:GQ:PL 0/1:2,2:4:65.32:68,0,65
3 116746175 rs12629740 A G 113.55 PASS AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=52.54;MQ0=0;MQRankSum=0.736;QD=18.92;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LSAMP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474851 GT:AD:DP:GQ:PL 0/1:1,5:6:23.72:144,0,24
3 116746261 rs17730203 C T 300.87 PASS AB=0.613;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.689;DB;DP=31;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=54.1;MQ0=0;MQRankSum=-0.215;QD=9.71;ReadPosRankSum=-0.129;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LSAMP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474851 GT:AD:DP:GQ:PL 0/1:19,12:31:99:331,0,692
3 116746298 rs17662604 G C 664.08 PASS AB=0.593;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.18;DB;DP=59;Dels=0.0;FS=5.417;HRun=1;HaplotypeScore=1.9827;MQ=52.69;MQ0=0;MQRankSum=-1.551;QD=11.26;ReadPosRankSum=-0.27;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LSAMP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474851 GT:AD:DP:GQ:PL 0/1:35,24:59:99:694,0,1065
3 116746374 rs35725689 C T 939.43 PASS AB=0.516;AC=1;AF=0.50;AN=2;BaseQRankSum=0.588;DB;DP=92;Dels=0.0;FS=7.0;HRun=0;HaplotypeScore=2.8919;MQ=47.1;MQ0=1;MQRankSum=-6.349;QD=10.21;ReadPosRankSum=0.193;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LSAMP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474851 GT:AD:DP:GQ:PL 0/1:47,44:92:99:969,0,1431
3 116746457 rs74310650 GTTA G 1065.52 PASS AB=0.609;AC=1;AF=0.50;AN=2;BaseQRankSum=2.644;DB;DP=39;FS=0.0;HRun=0;HaplotypeScore=288.2988;IndelType=D;MQ=49.93;MQ0=0;MQRankSum=-2.267;QD=27.32;ReadPosRankSum=-0.824;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LSAMP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474851 GT:AD:DP:GQ:PL 0/1:4,25:39:99:1105,0,269
3 116746476 rs12185920 A T 593.44 PASS AB=0.314;AC=1;AF=0.50;AN=2;BaseQRankSum=3.251;DB;DP=35;Dels=0.0;FS=2.604;HRun=4;HaplotypeScore=1.9198;MQ=53.8;MQ0=0;MQRankSum=-0.16;QD=16.96;ReadPosRankSum=0.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LSAMP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474851 GT:AD:DP:GQ:PL 0/1:11,24:35:99:623,0,351
3 116746566 rs77535291 CA C 122.87 PASS AC=2;AF=1.00;AN=2;DB;DP=8;FS=0.0;HRun=9;HaplotypeScore=28.3602;IndelType=D;MQ=49.3;MQ0=0;QD=13.65;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LSAMP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474851 GT:AD:DP:GQ:PL 1/1:2,7:8:18.01:165,18,0
3 118621500 rs34908332 C T 408.76 PASS AB=0.638;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.588;DB;DP=47;Dels=0.0;FS=2.626;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.819;QD=8.7;ReadPosRankSum=0.888;SNPEFF_AMINO_ACID_CHANGE=S360N;SNPEFF_CODON_CHANGE=aGc/aAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_118621238_118621808;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IGSF11;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000491903 GT:AD:DP:GQ:PL 0/1:30,17:47:99:439,0,1070
3 118624369 rs62275716 C T 2558.78 PASS AC=2;AF=1.00;AN=2;DB;DP=78;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.7;MQ0=0;QD=32.8;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IGSF11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354673 GT:AD:DP:GQ:PL 1/1:0,78:78:99:2592,190,0
3 118866376 rs56317615 C T 2171.92 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.7809;MQ=58.59;MQ0=0;QD=32.91;SNPEFF_AMINO_ACID_CHANGE=S447L;SNPEFF_CODON_CHANGE=tCa/tTa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_118864997_118866434;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf30;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000295622 GT:AD:DP:GQ:PL 1/1:0,66:66:99:2205,166,0
3 118866515 rs9864127 C T 257.64 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.21;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf30;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295622 GT:AD:DP:GQ:PL 1/1:0,8:8:21.07:291,21,0
3 118870222 rs73185896 G C 1789.45 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.8332;MQ=59.53;MQ0=0;QD=36.52;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf30;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470341 GT:AD:DP:GQ:PL 1/1:0,48:49:99:1822,141,0
3 118870356 rs4133080 T G 131.57 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.89;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf30;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295622 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:164,12,0
3 118909159 rs9840317 A G 3110.58 PASS AC=2;AF=1.00;AN=2;DB;DP=97;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.52;MQ0=0;QD=32.07;SNPEFF_AMINO_ACID_CHANGE=Q113R;SNPEFF_CODON_CHANGE=cAa/cGa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_118909092_118909166;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UPK1B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000264234 GT:AD:DP:GQ:PL 1/1:0,97:97:99:3144,241,0
3 118909538 rs9878996 G T 419.13 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.93;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RP11-484M3.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000490594 GT:AD:DP:GQ:PL 1/1:0,12:12:33.11:452,33,0
3 118909962 rs3796356 T C 4007.18 PASS AC=2;AF=1.00;AN=2;DB;DP=130;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9916;MQ=59.11;MQ0=0;QD=30.82;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RP11-484M3.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000490594 GT:AD:DP:GQ:PL 1/1:0,130:130:99:4007,331,0
3 118909987 rs3796357 C T 3021.96 PASS AC=2;AF=1.00;AN=2;DB;DP=84;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=2.9707;MQ=58.89;MQ0=0;QD=35.98;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RP11-484M3.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000490594 GT:AD:DP:GQ:PL 1/1:1,83:84:99:3055,235,0
3 118912961 rs62263545 T C 96.61 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=0.278;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=55.66;MQ0=0;MQRankSum=0.278;QD=8.78;ReadPosRankSum=-0.278;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UPK1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264234 GT:AD:DP:GQ:PL 0/1:7,4:11:99:127,0,221
3 118913261 rs77921698 T TC 1038.09 PASS AB=0.648;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.542;DB;DP=57;FS=1.329;HRun=3;HaplotypeScore=161.821;IndelType=I;MQ=59.65;MQ0=0;MQRankSum=-0.165;QD=18.21;ReadPosRankSum=-0.949;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UPK1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479520 GT:AD:DP:GQ:PL 0/1:26,31:57:99:1077,0,697
3 118913337 rs7628485 A G 245.13 PASS AB=0.357;AC=1;AF=0.50;AN=2;BaseQRankSum=1.333;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.667;QD=17.51;ReadPosRankSum=0.933;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UPK1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479520 GT:AD:DP:GQ:PL 0/1:5,9:14:99:275,0,156
3 118922650 rs140073651 C CA 115.26 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.219;DB;DP=10;FS=0.0;HRun=7;HaplotypeScore=58.3927;IndelType=I;MQ=58.77;MQ0=0;MQRankSum=0.876;QD=11.53;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UPK1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264234 GT:AD:DP:GQ:PL 0/1:5,5:10:78.40:154,0,78
3 118922654 rs12186112 A C 150.91 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.47;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.77;MQ0=0;MQRankSum=-1.453;QD=15.09;ReadPosRankSum=-0.336;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UPK1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264234 GT:AD:DP:GQ:PL 1/1:5,5:10:15.05:184,15,0
3 118931389 rs6784208 C T 697.03 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.19;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=B4GALT4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460321 GT:AD:DP:GQ:PL 1/1:0,21:21:54.18:730,54,0
3 118931669 rs6784717 G T 86.41 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.8;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=B4GALT4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460321 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:118,9,0
3 118935284 rs68075325 CACGCACAT C 217.35 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=1.067;DB;DP=8;FS=0.0;HRun=0;HaplotypeScore=93.3298;IndelType=D;MQ=49.34;MQ0=0;MQRankSum=-0.572;QD=27.17;ReadPosRankSum=-0.572;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=B4GALT4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359213 GT:AD:DP:GQ:PL 0/1:1,7:8:61.95:256,0,62
3 118948618 rs4422293 G C 324.33 PASS AB=0.476;AC=1;AF=0.50;AN=2;BaseQRankSum=1.362;DB;DP=21;Dels=0.0;FS=3.139;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=1.28;QD=15.44;ReadPosRankSum=-0.372;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=B4GALT4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000459778 GT:AD:DP:GQ:PL 0/1:10,11:21:99:354,0,278
3 118948716 rs4422294 G A 706.82 PASS AB=0.547;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.102;DB;DP=53;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9789;MQ=60.0;MQ0=0;MQRankSum=-1.257;QD=13.34;ReadPosRankSum=0.34;SNPEFF_AMINO_ACID_CHANGE=C30;SNPEFF_CODON_CHANGE=tgC/tgT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_118948694_118948900;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=B4GALT4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000471675 GT:AD:DP:GQ:PL 0/1:29,24:53:99:737,0,906
3 119013928 rs3732412 A T 38.42 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.231;QD=7.68;ReadPosRankSum=-0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGAP31;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264245 GT:AD:DP:GQ:PL 0/1:3,2:5:68.41:68,0,107
3 119101039 rs73187863 T A 547.55 PASS AB=0.419;AC=1;AF=0.50;AN=2;BaseQRankSum=3.663;DB;DP=31;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.4;MQ0=0;MQRankSum=0.661;QD=17.66;ReadPosRankSum=0.701;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGAP31;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264245 GT:AD:DP:GQ:PL 0/1:13,18:31:99:578,0,403
3 119117934 rs78962354 G A 68.96 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=0.322;DB;DP=8;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=57.05;MQ0=0;MQRankSum=0.684;QD=8.62;ReadPosRankSum=-0.684;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGAP31;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264245 GT:AD:DP:GQ:PL 0/1:5,3:8:98.95:99,0,142
3 119118104 rs4688001 A G 951.78 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.07;SNPEFF_AMINO_ACID_CHANGE=V355;SNPEFF_CODON_CHANGE=gtA/gtG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_119118046_119118108;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGAP31;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000264245 GT:AD:DP:GQ:PL 1/1:0,25:25:72.24:985,72,0
3 119132554 rs4687855 A G 141.47 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.922;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.73;MQ0=0;MQRankSum=-0.922;QD=20.21;ReadPosRankSum=0.922;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGAP31;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264245 GT:AD:DP:GQ:PL 0/1:2,5:7:62.92:171,0,63
3 119133183 rs3732413 G A 1446.85 PASS AB=0.459;AC=1;AF=0.50;AN=2;BaseQRankSum=2.083;DB;DP=85;Dels=0.0;FS=0.877;HRun=0;HaplotypeScore=2.8075;MQ=59.46;MQ0=0;MQRankSum=-0.71;QD=17.02;ReadPosRankSum=0.567;SNPEFF_AMINO_ACID_CHANGE=G803S;SNPEFF_CODON_CHANGE=Ggc/Agc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_119132703_119139561;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGAP31;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000264245 GT:AD:DP:GQ:PL 0/1:39,46:85:99:1477,0,1000
3 119171280 rs1919586 C G 295.53 PASS AB=0.421;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.377;DB;DP=19;Dels=0.0;FS=10.386;HRun=0;HaplotypeScore=0.9789;MQ=60.0;MQ0=0;MQRankSum=0.133;QD=15.55;ReadPosRankSum=-1.111;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=TMEM39A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000482162 GT:AD:DP:GQ:PL 0/1:8,11:19:99:326,0,291
3 119188895 rs6438531 C G 133.38 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.34;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POGLUT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295588 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:166,12,0
3 119196437 rs6799315 G A 53.65 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.683;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.248;QD=5.96;ReadPosRankSum=-1.422;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POGLUT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460339 GT:AD:DP:GQ:PL 0/1:6,3:9:83.64:84,0,217
3 119198873 rs4688007 G A 601.90 PASS AB=0.394;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.421;DB;DP=33;Dels=0.0;FS=4.21;HRun=1;HaplotypeScore=0.0;MQ=59.3;MQ0=0;MQRankSum=-1.187;QD=18.24;ReadPosRankSum=0.214;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POGLUT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460339 GT:AD:DP:GQ:PL 0/1:13,20:33:99:632,0,355
3 119199099 rs139662431 C CT 89.17 PASS AB=0.757;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.968;DB;DP=28;FS=0.0;HRun=13;HaplotypeScore=131.0855;IndelType=I;MQ=57.38;MQ0=0;MQRankSum=-0.194;QD=3.18;ReadPosRankSum=-0.194;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POGLUT1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460339 GT:AD:DP:GQ:PL 0/1:16,9:28:81.08:128,0,81
3 119219833 rs2293371 C G 34.83 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.72;QD=5.8;ReadPosRankSum=-0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TIMMDC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466984 GT:AD:DP:GQ:PL 0/1:4,2:6:64.82:65,0,151
3 119235977 rs4447803 C A 393.69 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.224;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=59.11;MQ0=0;MQRankSum=-0.245;QD=15.14;ReadPosRankSum=1.115;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TIMMDC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469324 GT:AD:DP:GQ:PL 0/1:12,14:26:99:424,0,425
3 119236017 rs4461452 G T 629.49 PASS AB=0.511;AC=1;AF=0.50;AN=2;BaseQRankSum=5.733;DB;DP=48;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=1.832;MQ=59.52;MQ0=0;MQRankSum=1.26;QD=13.11;ReadPosRankSum=-0.942;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TIMMDC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469324 GT:AD:DP:GQ:PL 0/1:24,23:48:99:659,0,634
3 119246477 rs77922702 T C 66.04 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.537;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.988;QD=11.01;ReadPosRankSum=-0.406;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD80;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000383668 GT:AD:DP:GQ:PL 0/1:3,3:6:96.03:96,0,106
3 119263770 rs9282638 T C 133.37 PASS AB=0.143;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.742;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.742;QD=19.05;ReadPosRankSum=0.742;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD80;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264246 GT:AD:DP:GQ:PL 0/1:1,6:7:23.18:163,0,23
3 119367390 rs2688643 T C 1456.22 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.98;SNPEFF_AMINO_ACID_CHANGE=S242;SNPEFF_CODON_CHANGE=tcA/tcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_119367107_119367515;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=POPDC2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000264231 GT:AD:DP:GQ:PL 1/1:0,47:47:99:1489,120,0
3 119367706 rs1985121 G T 80.47 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.82;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=POPDC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264231 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:113,9,0
3 119373257 rs2688631 A G 345.32 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.39;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=COX17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000490145 GT:AD:DP:GQ:PL 1/1:0,11:11:30.09:378,30,0
3 119373273 rs111798425 G A 201.37 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=1.365;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.7887;MQ=58.33;MQ0=0;MQRankSum=0.471;QD=14.38;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=COX17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000490145 GT:AD:DP:GQ:PL 0/1:6,8:14:99:231,0,186
3 119373301 rs2688630 G A 814.45 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.07;MQ0=0;QD=32.58;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=COX17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000490145 GT:AD:DP:GQ:PL 1/1:0,25:25:63.21:847,63,0
3 119373315 rs2688629 T C 963.56 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.23;MQ0=0;QD=32.12;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=COX17;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000490145 GT:AD:DP:GQ:PL 1/1:0,30:30:75.24:997,75,0
3 119426307 rs9848716 T C 2998.41 PASS AC=2;AF=1.00;AN=2;DB;DP=90;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.8332;MQ=59.74;MQ0=0;QD=33.32;SNPEFF_AMINO_ACID_CHANGE=Y86;SNPEFF_CODON_CHANGE=taT/taC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_119426251_119426408;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf15;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000273390 GT:AD:DP:GQ:PL 1/1:0,90:90:99:3031,223,0
3 119427673 rs9834908 G A 85.17 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.39;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000488533 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:117,9,0
3 119434527 rs6438544 G C 2501.50 PASS AC=2;AF=1.00;AN=2;DB;DP=72;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.74;SNPEFF_AMINO_ACID_CHANGE=A207P;SNPEFF_CODON_CHANGE=Gca/Cca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_119434409_119434590;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf15;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000273390 GT:AD:DP:GQ:PL 1/1:0,72:72:99:2535,190,0
3 119444814 rs7649166 C T 52.22 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.41;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273390 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:83,6,0
3 119501780 rs2472668 G A 351.98 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.2;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NR1I2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000337940 GT:AD:DP:GQ:PL 1/1:0,10:10:30.10:385,30,0
3 119501798 rs2461831 T A 326.09 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.23;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NR1I2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000337940 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:359,27,0
3 119526349 rs1464603 G A 341.62 PASS AB=0.56;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.739;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.575;QD=13.66;ReadPosRankSum=-0.192;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NR1I2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000337940 GT:AD:DP:GQ:PL 0/1:14,11:25:99:372,0,469
3 119526372 rs1464602 G A 184.66 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.022;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9947;MQ=60.0;MQ0=0;MQRankSum=-0.044;QD=10.26;ReadPosRankSum=-1.288;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NR1I2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000337940 GT:AD:DP:GQ:PL 0/1:10,8:18:99:215,0,356
3 119533733 rs6785049 G A 111.14 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=1.754;DB;DP=7;Dels=0.0;FS=4.771;HRun=0;HaplotypeScore=0.0;MQ=56.62;MQ0=0;MQRankSum=-0.937;QD=15.88;ReadPosRankSum=-0.55;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NR1I2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474090 GT:AD:DP:GQ:PL 0/1:3,4:7:55.77:141,0,56
3 119533773 rs6797879 T C 134.84 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=1.945;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.55;MQ0=0;MQRankSum=-0.059;QD=8.43;ReadPosRankSum=1.827;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NR1I2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474090 GT:AD:DP:GQ:PL 0/1:9,7:16:99:165,0,312
3 119533910 rs4058490 T C 1356.83 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.55;SNPEFF_AMINO_ACID_CHANGE=N256;SNPEFF_CODON_CHANGE=aaT/aaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_119533826_119533968;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NR1I2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000466380 GT:AD:DP:GQ:PL 1/1:0,42:42:99:1390,105,0
3 119631814 rs6438552 A G 41.96 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.026;QD=10.49;ReadPosRankSum=1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GSK3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264235 GT:AD:DP:GQ:PL 0/1:2,2:4:67.28:72,0,67
3 119666266 rs13312998 C T 338.10 PASS AB=0.476;AC=1;AF=0.50;AN=2;BaseQRankSum=1.021;DB;DP=21;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=0.317;QD=16.1;ReadPosRankSum=1.303;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GSK3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264235 GT:AD:DP:GQ:PL 0/1:10,11:21:99:368,0,346
3 119886548 rs9858566 G C 832.26 PASS AB=0.447;AC=1;AF=0.50;AN=2;BaseQRankSum=3.349;DB;DP=47;Dels=0.0;FS=2.595;HRun=2;HaplotypeScore=0.9894;MQ=58.01;MQ0=0;MQRankSum=-1.316;QD=17.71;ReadPosRankSum=2.75;SNPEFF_AMINO_ACID_CHANGE=L588;SNPEFF_CODON_CHANGE=ctC/ctG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_119885805_119887231;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=GPR156;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000461057 GT:AD:DP:GQ:PL 0/1:21,26:47:99:862,0,604
3 119886776 rs902790 T A 1554.85 PASS AB=0.46;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.383;DB;DP=113;Dels=0.0;FS=6.101;HRun=0;HaplotypeScore=5.1355;MQ=58.14;MQ0=0;MQRankSum=0.909;QD=13.76;ReadPosRankSum=-1.132;SNPEFF_AMINO_ACID_CHANGE=E512D;SNPEFF_CODON_CHANGE=gaA/gaT;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_119885805_119887231;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=GPR156;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000461057 GT:AD:DP:GQ:PL 0/1:52,61:113:99:1585,0,1580
3 119900212 rs1488765 G C 327.80 PASS AB=0.519;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.208;DB;DP=27;Dels=0.0;FS=1.583;HRun=0;HaplotypeScore=0.0;MQ=59.14;MQ0=0;MQRankSum=0.558;QD=12.14;ReadPosRankSum=0.995;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=GPR156;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315843 GT:AD:DP:GQ:PL 0/1:14,13:27:99:358,0,453
3 119900260 rs1488764 T C 140.99 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.367;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.352;QD=7.83;ReadPosRankSum=-1.055;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=GPR156;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315843 GT:AD:DP:GQ:PL 0/1:12,6:18:99:171,0,409
3 119904125 rs902791 A G 351.86 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.136;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.162;QD=9.77;ReadPosRankSum=-0.684;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=GPR156;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315843 GT:AD:DP:GQ:PL 0/1:20,16:36:99:382,0,591
3 119904315 rs902792 G C 139.64 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=0.717;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.143;QD=12.69;ReadPosRankSum=0.717;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=GPR156;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315843 GT:AD:DP:GQ:PL 0/1:6,5:11:99:170,0,210
3 119905619 rs74395262 G A 1075.12 PASS AB=0.521;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.744;DB;DP=73;Dels=0.0;FS=2.305;HRun=0;HaplotypeScore=1.9532;MQ=59.37;MQ0=0;MQRankSum=-0.558;QD=14.73;ReadPosRankSum=-1.352;SNPEFF_AMINO_ACID_CHANGE=D162;SNPEFF_CODON_CHANGE=gaC/gaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_119905505_119905630;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=GPR156;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000315843 GT:AD:DP:GQ:PL 0/1:38,35:73:99:1105,0,1183
3 119905641 rs2319542 G A 763.59 PASS AB=0.559;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.534;DB;DP=59;Dels=0.0;FS=1.299;HRun=1;HaplotypeScore=0.8941;MQ=59.22;MQ0=0;MQRankSum=0.44;QD=12.94;ReadPosRankSum=1.586;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=GPR156;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315843 GT:AD:DP:GQ:PL 0/1:33,26:59:99:794,0,1060
3 119912297 rs902793 C A 291.95 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=0.209;DB;DP=28;Dels=0.0;FS=1.72;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.091;QD=10.43;ReadPosRankSum=-1.648;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=GPR156;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315843 GT:AD:DP:GQ:PL 0/1:16,12:28:99:322,0,529
3 120123953 rs1147701 T A 251.38 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.28;MQ0=0;QD=35.91;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FSTL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464690 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:284,21,0
3 120169641 rs1147708 T C 88.32 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.04;MQ0=0;QD=14.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FSTL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295633 GT:AD:DP:GQ:PL 1/1:0,6:6:9.03:120,9,0
3 120360331 rs804971 T C 825.04 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.95;MQ0=0;QD=37.5;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HGD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283871 GT:AD:DP:GQ:PL 1/1:0,22:22:63.20:858,63,0
3 120369575 rs3817627 T G 1545.58 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.49;MQ0=0;QD=34.35;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HGD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485313 GT:AD:DP:GQ:PL 1/1:0,45:45:99:1579,117,0
3 120371414 rs2551607 G A 406.25 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.08;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HGD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000488183 GT:AD:DP:GQ:PL 1/1:0,15:15:33.11:439,33,0
3 120389243 rs1800722 T C 882.44 PASS AB=0.431;AC=1;AF=0.50;AN=2;BaseQRankSum=0.219;DB;DP=51;Dels=0.0;FS=1.438;HRun=0;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=0.941;QD=17.3;ReadPosRankSum=0.675;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HGD;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000480862 GT:AD:DP:GQ:PL 0/1:22,29:51:99:912,0,659
3 120389316 rs2255543 T A 1216.61 PASS AB=0.506;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.767;DB;DP=81;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.4679;MQ=60.0;MQ0=0;MQRankSum=-1.188;QD=15.02;ReadPosRankSum=0.669;SNPEFF_AMINO_ACID_CHANGE=Q39H;SNPEFF_CODON_CHANGE=caA/caT;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_120389274_120389379;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HGD;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000476082 GT:AD:DP:GQ:PL 0/1:41,40:81:99:1247,0,1202
3 120413158 rs7612975 G A 1827.55 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.52;MQ0=0;QD=38.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RABL3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273375 GT:AD:DP:GQ:PL 1/1:0,48:48:99:1861,138,0
3 120428621 rs11720353 T C 896.56 PASS AB=0.458;AC=1;AF=0.50;AN=2;BaseQRankSum=2.259;DB;DP=59;Dels=0.0;FS=5.486;HRun=0;HaplotypeScore=0.734;MQ=59.61;MQ0=0;MQRankSum=2.077;QD=15.2;ReadPosRankSum=1.605;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RABL3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273375 GT:AD:DP:GQ:PL 0/1:27,32:59:99:927,0,787
3 120489926 rs2877413 G T 258.84 PASS AB=0.308;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.929;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.077;QD=19.91;ReadPosRankSum=-1.774;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GTF2E1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000283875 GT:AD:DP:GQ:PL 0/1:4,9:13:99:289,0,132
3 120500446 rs2229308 T A 36.25 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.358;QD=7.25;ReadPosRankSum=-1.231;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GTF2E1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469772 GT:AD:DP:GQ:PL 0/1:3,2:5:66.24:66,0,109
3 120628840 rs470647 T C 582.62 PASS AB=0.45;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.352;DB;DP=40;Dels=0.0;FS=1.925;HRun=0;HaplotypeScore=0.0;MQ=59.53;MQ0=0;MQRankSum=0.748;QD=14.57;ReadPosRankSum=-0.204;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STXBP5L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273666 GT:AD:DP:GQ:PL 0/1:18,22:40:99:613,0,538
3 120673980 rs73185491 T G 42.27 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=14.09;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STXBP5L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273666 GT:AD:DP:GQ:PL 0/1:1,2:3:33.62:72,0,34
3 120760495 rs1688679 T G 297.20 PASS AB=0.45;AC=1;AF=0.50;AN=2;BaseQRankSum=0.228;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9894;MQ=60.0;MQ0=0;MQRankSum=0.228;QD=14.86;ReadPosRankSum=0.836;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STXBP5L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273666 GT:AD:DP:GQ:PL 0/1:9,11:20:99:327,0,311
3 120976051 rs17249244 C G 990.49 PASS AB=0.539;AC=1;AF=0.50;AN=2;BaseQRankSum=0.073;DB;DP=76;Dels=0.0;FS=4.66;HRun=0;HaplotypeScore=1.2434;MQ=59.75;MQ0=0;MQRankSum=-0.719;QD=13.03;ReadPosRankSum=-0.584;SNPEFF_AMINO_ACID_CHANGE=T568S;SNPEFF_CODON_CHANGE=aCc/aGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_120976008_120976180;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STXBP5L;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000273666 GT:AD:DP:GQ:PL 0/1:41,35:76:99:1020,0,1377
3 121100116 rs66560810 GT G 629.65 PASS AB=0.674;AC=1;AF=0.50;AN=2;BaseQRankSum=5.015;DB;DP=62;FS=0.0;HRun=9;HaplotypeScore=171.3034;IndelType=D;MQ=60.87;MQ0=0;MQRankSum=-0.518;QD=10.16;ReadPosRankSum=-0.444;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STXBP5L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273666 GT:AD:DP:GQ:PL 0/1:32,30:62:99:669,0,824
3 121100414 rs17740072 A G 588.20 PASS AB=0.56;AC=1;AF=0.50;AN=2;BaseQRankSum=3.41;DB;DP=50;Dels=0.0;FS=2.837;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.401;QD=11.76;ReadPosRankSum=0.42;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STXBP5L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273666 GT:AD:DP:GQ:PL 0/1:28,22:50:99:618,0,800
3 121132268 rs9849118 T A 57.02 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.818;DB;DP=10;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.731;QD=5.7;ReadPosRankSum=-0.296;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STXBP5L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273666 GT:AD:DP:GQ:PL 0/1:7,3:10:87.02:87,0,268
3 121137976 rs6782025 C T 579.06 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.075;DB;DP=54;Dels=0.0;FS=1.289;HRun=0;HaplotypeScore=0.0;MQ=59.57;MQ0=0;MQRankSum=-1.055;QD=10.72;ReadPosRankSum=0.835;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STXBP5L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471262 GT:AD:DP:GQ:PL 0/1:30,24:54:99:609,0,956
3 121138015 rs6782033 C T 411.80 PASS AB=0.552;AC=1;AF=0.50;AN=2;BaseQRankSum=1.732;DB;DP=29;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9894;MQ=59.2;MQ0=0;MQRankSum=-0.504;QD=14.2;ReadPosRankSum=-0.636;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STXBP5L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471262 GT:AD:DP:GQ:PL 0/1:16,13:29:99:442,0,545
3 121154974 rs1381057 T C 1216.36 PASS AB=0.425;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.75;DB;DP=87;Dels=0.0;FS=0.811;HRun=0;HaplotypeScore=0.9578;MQ=60.0;MQ0=0;MQRankSum=-1.143;QD=13.98;ReadPosRankSum=0.794;SNPEFF_AMINO_ACID_CHANGE=Q2136R;SNPEFF_CODON_CHANGE=cAa/cGa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_121154969_121155122;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POLQ;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000543272 GT:AD:DP:GQ:PL 0/1:37,50:87:99:1246,0,1154
3 121155198 rs2030531 C T 277.41 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.625;DB;DP=18;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.625;QD=15.41;ReadPosRankSum=0.048;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POLQ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474243 GT:AD:DP:GQ:PL 0/1:8,10:18:99:307,0,277
3 121159102 rs6769377 G A 35.61 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.231;QD=5.93;ReadPosRankSum=0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POLQ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264233 GT:AD:DP:GQ:PL 0/1:3,3:6:65.60:66,0,110
3 121186543 rs1381058 A G 375.78 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=2.24;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.84;MQ0=0;MQRankSum=-0.887;QD=18.79;ReadPosRankSum=-0.042;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POLQ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264233 GT:AD:DP:GQ:PL 0/1:8,12:20:99:406,0,197
3 121195302 rs72158357 TACAC T 213.07 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=0.872;DB;DP=25;FS=0.0;HRun=0;HaplotypeScore=132.5925;IndelType=D;MQ=59.89;MQ0=0;MQRankSum=1.585;QD=8.52;ReadPosRankSum=-0.555;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POLQ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264233 GT:AD:DP:GQ:PL 0/1:15,9:25:99:252,0,753
3 121202131 rs56354556 CTT C 267.45 PASS AC=2;AF=1.00;AN=2;DB;DP=7;FS=0.0;HRun=4;HaplotypeScore=23.2268;IndelType=D;MQ=60.0;MQ0=0;QD=38.21;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POLQ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264233 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:309,21,0
3 121202433 rs78578025 TA T 55.05 QDFilter2 AB=0.739;AC=1;AF=0.50;AN=2;BaseQRankSum=2.077;DB;DP=34;FS=1.971;HRun=17;HaplotypeScore=186.3003;IndelType=D;MQ=54.04;MQ0=0;MQRankSum=-1.444;QD=1.62;ReadPosRankSum=-0.81;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POLQ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264233 GT:AD:DP:GQ:PL 0/1:22,11:34:94.08:94,0,185
3 121208833 rs3218649 G C 707.45 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=1.396;DB;DP=65;Dels=0.0;FS=2.202;HRun=0;HaplotypeScore=0.9332;MQ=60.0;MQ0=0;MQRankSum=1.369;QD=10.88;ReadPosRankSum=0.061;SNPEFF_AMINO_ACID_CHANGE=T1118R;SNPEFF_CODON_CHANGE=aCa/aGa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_121206149_121209255;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POLQ;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000393672 GT:AD:DP:GQ:PL 0/1:40,25:65:99:737,0,1324
3 121212277 rs11351457 AT A 192.18 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=3.245;DB;DP=28;FS=0.0;HRun=10;HaplotypeScore=68.1537;IndelType=D;MQ=60.39;MQ0=0;MQRankSum=-0.317;QD=6.86;ReadPosRankSum=-0.464;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POLQ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264233 GT:AD:DP:GQ:PL 0/1:16,12:28:99:231,0,406
3 121228833 rs3732406 A C 301.02 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.249;DB;DP=30;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.08;QD=10.03;ReadPosRankSum=-1.969;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POLQ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264233 GT:AD:DP:GQ:PL 0/1:18,12:30:99:331,0,634
3 121238749 rs702018 G A 5763.64 PASS AC=2;AF=1.00;AN=2;DB;DP=168;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=5.8225;MQ=58.81;MQ0=0;QD=34.31;SNPEFF_AMINO_ACID_CHANGE=G102;SNPEFF_CODON_CHANGE=ggC/ggT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_121238718_121238930;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POLQ;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000543272 GT:AD:DP:GQ:PL 1/1:0,166:168:99:5764,433,0
3 121239027 rs702019 G A 211.55 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.52;DB;DP=11;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=55.66;MQ0=0;MQRankSum=0.278;QD=19.23;ReadPosRankSum=-0.278;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POLQ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000488282 GT:AD:DP:GQ:PL 0/1:4,7:11:99:242,0,129
3 121241058 rs13059229 C G 730.09 PASS AB=0.381;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.117;DB;DP=42;Dels=0.0;FS=11.569;HRun=0;HaplotypeScore=0.0;MQ=59.0;MQ0=0;MQRankSum=-0.635;QD=17.38;ReadPosRankSum=-0.816;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POLQ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264233 GT:AD:DP:GQ:PL 0/1:16,26:42:99:760,0,494
3 121263720 rs702017 C A 2024.66 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.3548;MQ=59.6;MQ0=0;QD=34.91;SNPEFF_AMINO_ACID_CHANGE=R201I;SNPEFF_CODON_CHANGE=aGa/aTa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_121263574_121263753;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POLQ;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000393672 GT:AD:DP:GQ:PL 1/1:0,58:58:99:2058,150,0
3 121265043 rs13065220 C T 284.61 PASS AB=0.421;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.784;DB;DP=19;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.9159;MQ=60.0;MQ0=0;MQRankSum=-0.206;QD=14.98;ReadPosRankSum=-0.784;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POLQ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000393672 GT:AD:DP:GQ:PL 0/1:8,11:19:99:315,0,280
3 121265176 rs3806614 G A 1547.70 PASS AB=0.555;AC=1;AF=0.50;AN=2;BaseQRankSum=2.037;DB;DP=128;Dels=0.0;FS=0.825;HRun=2;HaplotypeScore=0.0;MQ=59.67;MQ0=0;MQRankSum=0.126;QD=12.09;ReadPosRankSum=-0.312;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POLQ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000393672 GT:AD:DP:GQ:PL 0/1:71,57:128:99:1578,0,2128
3 121265522 rs11714774 A C 897.38 PASS AB=0.485;AC=1;AF=0.50;AN=2;BaseQRankSum=2.701;DB;DP=68;Dels=0.0;FS=2.507;HRun=1;HaplotypeScore=0.0;MQ=59.32;MQ0=0;MQRankSum=0.276;QD=13.2;ReadPosRankSum=-0.725;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POLQ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264233 GT:AD:DP:GQ:PL 0/1:33,35:68:99:927,0,1036
3 121265599 rs72251695 TA T 33.46 QDFilter2 AB=0.78;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.953;DB;DP=32;FS=0.0;HRun=14;HaplotypeScore=210.6565;IndelType=D;MQ=57.05;MQ0=0;MQRankSum=0.508;QD=1.05;ReadPosRankSum=-0.381;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=POLQ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264233 GT:AD:DP:GQ:PL 0/1:20,9:32:72.49:72,0,347
3 121304710 rs486813 C T 176 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.2;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARGFX;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334384 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:209,15,0
3 121339354 rs7640859 T C 1759.55 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.24;MQ0=0;QD=31.99;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FBXO40;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000338040 GT:AD:DP:GQ:PL 1/1:0,54:55:99:1793,141,0
3 121339520 rs35295338 A C 562 PASS AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=0.132;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.39;MQ0=0;MQRankSum=-1.184;QD=14.79;ReadPosRankSum=0.482;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FBXO40;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000338040 GT:AD:DP:GQ:PL 0/1:20,18:38:99:592,0,682
3 121340536 rs4676684 T C 405.25 PASS AB=0.482;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.922;DB;DP=57;Dels=0.0;FS=6.369;HRun=0;HaplotypeScore=0.734;MQ=52.24;MQ0=0;MQRankSum=1.524;QD=7.11;ReadPosRankSum=-1.971;SNPEFF_AMINO_ACID_CHANGE=V87A;SNPEFF_CODON_CHANGE=gTg/gCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_121340280_121342190;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FBXO40;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000338040 GT:AD:DP:GQ:PL 0/1:27,29:57:99:435,0,545
3 121340557 . G T 715.15 PASS AB=0.463;AC=1;AF=0.50;AN=2;BaseQRankSum=0.516;DP=55;Dels=0.0;FS=6.317;HRun=1;HaplotypeScore=0.9332;MQ=55.21;MQ0=0;MQRankSum=1.437;QD=13.0;ReadPosRankSum=0.387;SNPEFF_AMINO_ACID_CHANGE=C94F;SNPEFF_CODON_CHANGE=tGc/tTc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_121340280_121342190;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FBXO40;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000338040 GT:AD:DP:GQ:PL 0/1:25,29:55:99:745,0,591
3 121345874 rs2840143 G C 31.25 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=10.42;ReadPosRankSum=-0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HCLS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000314583 GT:AD:DP:GQ:PL 0/1:1,2:3:33.21:61,0,33
3 121350573 rs1128163 A G 188.17 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=0.935;DB;DP=13;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.791;QD=14.47;ReadPosRankSum=-0.377;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FBXO40;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000338040 GT:AD:DP:GQ:PL 0/1:6,7:13:99:218,0,192
3 121350583 rs1128159 C T 244.40 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.448;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9578;MQ=60.0;MQ0=0;MQRankSum=-0.209;QD=16.29;ReadPosRankSum=-0.15;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FBXO40;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000338040 GT:AD:DP:GQ:PL 0/1:7,8:15:99:274,0,245
3 121350966 rs9869984 C G 2575.08 PASS AC=2;AF=1.00;AN=2;DB;DP=76;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.09;MQ0=0;QD=33.88;SNPEFF_AMINO_ACID_CHANGE=V399L;SNPEFF_CODON_CHANGE=Gta/Cta;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_121350948_121351031;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HCLS1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000428394 GT:AD:DP:GQ:PL 1/1:0,75:76:99:2608,196,0
3 121351480 rs9815500 T C 304.29 PASS AB=0.519;AC=1;AF=0.50;AN=2;BaseQRankSum=0.462;DB;DP=27;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.9832;MQ=57.39;MQ0=0;MQRankSum=-0.667;QD=11.27;ReadPosRankSum=-1.077;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FBXO40;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000338040 GT:AD:DP:GQ:PL 0/1:14,13:27:99:334,0,345
3 121353254 rs2070179 T C 388.42 PASS AB=0.605;AC=1;AF=0.50;AN=2;BaseQRankSum=0.767;DB;DP=38;Dels=0.0;FS=5.403;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.673;QD=10.22;ReadPosRankSum=1.206;SNPEFF_AMINO_ACID_CHANGE=T198A;SNPEFF_CODON_CHANGE=Acc/Gcc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_121353054_121353265;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HCLS1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000428394 GT:AD:DP:GQ:PL 0/1:23,15:38:99:418,0,672
3 121354381 rs7620842 A T 116.24 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.017;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=14.53;ReadPosRankSum=0.421;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HCLS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464274 GT:AD:DP:GQ:PL 0/1:4,4:8:99:146,0,130
3 121354583 rs3772126 G A 826.82 PASS AB=0.582;AC=1;AF=0.50;AN=2;BaseQRankSum=2.028;DB;DP=67;Dels=0.0;FS=0.95;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.239;QD=12.34;ReadPosRankSum=-0.769;SNPEFF_AMINO_ACID_CHANGE=A193;SNPEFF_CODON_CHANGE=gcC/gcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_121354582_121354651;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HCLS1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000428394 GT:AD:DP:GQ:PL 0/1:39,28:67:99:857,0,1150
3 121355102 rs6802033 C A 129.53 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.38;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HCLS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464274 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:162,12,0
3 121355492 rs56404875 A G 195.38 PASS AB=0.182;AC=1;AF=0.50;AN=2;BaseQRankSum=0.118;DB;DP=11;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.589;QD=17.76;ReadPosRankSum=-1.296;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HCLS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464274 GT:AD:DP:GQ:PL 0/1:2,9:11:55.38:225,0,55
3 121383297 rs7153 G A 329.94 PASS AB=0.552;AC=1;AF=0.50;AN=2;BaseQRankSum=2.171;DB;DP=29;Dels=0.0;FS=5.238;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.11;QD=11.38;ReadPosRankSum=-0.11;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GOLGB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491690 GT:AD:DP:GQ:PL 0/1:16,13:29:99:360,0,539
3 121400725 rs1463736 G A 412.70 PASS AB=0.44;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.082;DB;DP=26;Dels=0.0;FS=1.799;HRun=0;HaplotypeScore=1.577;MQ=59.11;MQ0=0;MQRankSum=0.301;QD=15.87;ReadPosRankSum=1.56;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GOLGB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340645 GT:AD:DP:GQ:PL 0/1:11,14:26:99:443,0,385
3 121414061 rs1127412 C T 1987.75 PASS AB=0.522;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.006;DB;DP=136;Dels=0.0;FS=3.141;HRun=0;HaplotypeScore=2.5149;MQ=59.66;MQ0=0;MQRankSum=-0.61;QD=14.62;ReadPosRankSum=-0.125;SNPEFF_AMINO_ACID_CHANGE=G1765D;SNPEFF_CODON_CHANGE=gGt/gAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_121412588_121417776;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GOLGB1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000340645 GT:AD:DP:GQ:PL 0/1:71,65:136:99:2018,0,2099
3 121415720 rs3732410 T C 2313.67 PASS AB=0.424;AC=1;AF=0.50;AN=2;BaseQRankSum=3.186;DB;DP=144;Dels=0.0;FS=4.037;HRun=0;HaplotypeScore=1.399;MQ=59.42;MQ0=0;MQRankSum=0.753;QD=16.07;ReadPosRankSum=-0.929;SNPEFF_AMINO_ACID_CHANGE=Y1176C;SNPEFF_CODON_CHANGE=tAt/tGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_121414325_121417776;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GOLGB1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000494517 GT:AD:DP:GQ:PL 0/1:61,83:144:99:2344,0,1792
3 121416623 rs3732407 G C 2125.17 PASS AB=0.427;AC=1;AF=0.50;AN=2;BaseQRankSum=1.463;DB;DP=124;Dels=0.0;FS=8.535;HRun=0;HaplotypeScore=0.734;MQ=59.44;MQ0=0;MQRankSum=1.898;QD=17.14;ReadPosRankSum=1.783;SNPEFF_AMINO_ACID_CHANGE=T723S;SNPEFF_CODON_CHANGE=aCt/aGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_121415847_121417776;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GOLGB1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000426235 GT:AD:DP:GQ:PL 0/1:53,71:124:99:2155,0,1593
3 121433926 rs9854052 T A 291.46 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.248;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=59.07;MQ0=0;MQRankSum=0.582;QD=11.66;ReadPosRankSum=0.416;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GOLGB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340645 GT:AD:DP:GQ:PL 0/1:15,10:25:99:321,0,494
3 121435621 rs9832267 T C 880.93 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.202;DB;DP=91;Dels=0.0;FS=1.792;HRun=1;HaplotypeScore=0.0;MQ=59.8;MQ0=0;MQRankSum=1.339;QD=9.68;ReadPosRankSum=-1.083;SNPEFF_AMINO_ACID_CHANGE=Q224;SNPEFF_CODON_CHANGE=caA/caG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_121435584_121435986;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GOLGB1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000426235 GT:AD:DP:GQ:PL 0/1:52,39:91:99:911,0,1600
3 121435624 rs9812411 C T 922.34 PASS AB=0.573;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.173;DB;DP=89;Dels=0.0;FS=1.785;HRun=1;HaplotypeScore=0.0;MQ=59.79;MQ0=0;MQRankSum=-0.829;QD=10.36;ReadPosRankSum=-1.183;SNPEFF_AMINO_ACID_CHANGE=E223;SNPEFF_CODON_CHANGE=gaG/gaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_121435584_121435986;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GOLGB1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000426235 GT:AD:DP:GQ:PL 0/1:51,38:89:99:952,0,1538
3 121488995 rs1135750 C G 34.22 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.11;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IQCB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310864 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:65,6,0
3 121489439 rs148949254 TA T 2926.17 PASS AC=2;AF=1.00;AN=2;DB;DP=83;FS=0.0;HRun=4;HaplotypeScore=222.4511;IndelType=D;MQ=59.98;MQ0=0;QD=35.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IQCB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310864 GT:AD:DP:GQ:PL 1/1:3,80:83:99:2968,241,0
3 121500479 rs149985093 TACACACACACACAC T 1279.98 PASS AC=2;AF=1.00;AN=2;DB;DP=14;FS=0.0;HRun=0;HaplotypeScore=186.2404;IndelType=D;MQ=35.14;MQ0=0;QD=91.43;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IQCB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310864 GT:AD:DP:GQ:PL 1/1:3,11:14:33.11:1322,33,0
3 121500699 rs17849995 C T 1852.75 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.36;MQ0=0;QD=32.5;SNPEFF_AMINO_ACID_CHANGE=C301Y;SNPEFF_CODON_CHANGE=tGc/tAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_121500590_121500721;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IQCB1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000349820 GT:AD:DP:GQ:PL 1/1:0,57:57:99:1886,144,0
3 121507415 rs4073474 C T 632.99 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.17;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IQCB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310864 GT:AD:DP:GQ:PL 1/1:0,18:18:48.16:666,48,0
3 121508830 rs6802815 A T 630.64 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.963;DB;DP=27;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.9997;MQ=60.0;MQ0=0;MQRankSum=-1.22;QD=23.36;ReadPosRankSum=-0.064;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IQCB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310864 GT:AD:DP:GQ:PL 1/1:1,26:27:29.85:664,30,0
3 121514458 rs79707726 TA T 668.75 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.639;DB;DP=44;FS=0.0;HRun=14;HaplotypeScore=160.9833;IndelType=D;MQ=60.59;MQ0=0;MQRankSum=0.702;QD=15.2;ReadPosRankSum=0.796;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IQCB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000498104 GT:AD:DP:GQ:PL 1/1:7,37:44:82.24:711,82,0
3 121526099 rs4582090 A G 876.34 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.4972;MQ=58.13;MQ0=0;QD=35.05;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IQCB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310864 GT:AD:DP:GQ:PL 1/1:0,25:25:69.22:909,69,0
3 121526204 rs4543051 G A 2536.28 PASS AC=2;AF=1.00;AN=2;DB;DP=84;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9894;MQ=57.77;MQ0=0;QD=30.19;SNPEFF_AMINO_ACID_CHANGE=L192;SNPEFF_CODON_CHANGE=Cta/Tta;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_121526191_121526290;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IQCB1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000310864 GT:AD:DP:GQ:PL 1/1:0,84:84:99:2569,190,0
3 121573850 rs7637495 T C 47.34 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.67;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=EAF2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273668 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
3 121613205 rs4603998 G C 547.01 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=39.07;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC15A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295605 GT:AD:DP:GQ:PL 1/1:0,14:14:42.13:580,42,0
3 121643757 . A G 1139.66 PASS AB=0.493;AC=1;AF=0.50;AN=2;BaseQRankSum=3.415;DP=69;Dels=0.0;FS=1.718;HRun=0;HaplotypeScore=3.9473;MQ=60.0;MQ0=0;MQRankSum=-1.554;QD=16.52;ReadPosRankSum=-0.27;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC15A2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000489886 GT:AD:DP:GQ:PL 0/1:34,35:69:99:1170,0,1129
3 121712051 rs2877561 A C 325.17 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.01;SNPEFF_AMINO_ACID_CHANGE=L426;SNPEFF_CODON_CHANGE=ctT/ctG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_121711997_121712817;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ILDR1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000393631 GT:AD:DP:GQ:PL 1/1:0,13:13:27.09:358,27,0
3 121712805 rs3915061 G C 398.28 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.45;SNPEFF_AMINO_ACID_CHANGE=P147R;SNPEFF_CODON_CHANGE=cCg/cGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_121712627_121712817;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ILDR1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000383663 GT:AD:DP:GQ:PL 1/1:0,14:14:36.10:431,36,0
3 121712980 rs3915060 C T 928.03 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.6988;MQ=57.4;MQ0=0;QD=29.94;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ILDR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273691 GT:AD:DP:GQ:PL 1/1:0,31:31:72.23:961,72,0
3 121720494 rs62269207 C T 3034.42 PASS AC=2;AF=1.00;AN=2;DB;DP=87;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.9899;MQ=55.16;MQ0=0;QD=34.88;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ILDR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273691 GT:AD:DP:GQ:PL 1/1:0,87:87:99:3067,238,0
3 121725703 rs11924058 A G 83.65 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.88;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ILDR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273691 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:116,9,0
3 121810427 rs63114861 CT C 2829.12 PASS AC=2;AF=1.00;AN=2;DB;DP=112;FS=0.0;HRun=9;HaplotypeScore=295.4329;IndelType=D;MQ=60.76;MQ0=0;QD=25.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD86;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264468 GT:AD:DP:GQ:PL 1/1:5,107:112:99:2871,315,0
3 121810709 rs114959849 C T 132.03 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.684;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.322;QD=16.5;ReadPosRankSum=-0.684;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD86;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264468 GT:AD:DP:GQ:PL 0/1:3,5:8:99:162,0,99
3 121825197 rs2681417 G A 2875.27 PASS AC=2;AF=1.00;AN=2;DB;DP=86;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.73;MQ0=0;QD=33.43;SNPEFF_AMINO_ACID_CHANGE=V103I;SNPEFF_CODON_CHANGE=Gtt/Att;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_121825045_121825347;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD86;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000469710 GT:AD:DP:GQ:PL 1/1:0,86:86:99:2908,226,0
3 121836966 rs10580127 TGA T 557.43 PASS AC=2;AF=1.00;AN=2;DB;DP=16;FS=0.0;HRun=0;HaplotypeScore=57.3126;IndelType=D;MQ=58.83;MQ0=0;QD=34.84;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CD86;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264468 GT:AD:DP:GQ:PL 1/1:1,15:16:45.15:599,45,0
3 121976253 rs9869985 G A 712.10 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.67;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CASR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296154 GT:AD:DP:GQ:PL 1/1:0,24:24:60.16:745,60,0
3 121980242 rs3749207 T C 338.39 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=1.452;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.14;QD=18.8;ReadPosRankSum=0.609;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CASR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000490186 GT:AD:DP:GQ:PL 0/1:6,12:18:99:368,0,182
3 121980284 rs3749208 C T 689 PASS AB=0.436;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.308;DB;DP=39;Dels=0.0;FS=3.052;HRun=1;HaplotypeScore=1.9707;MQ=60.0;MQ0=0;MQRankSum=0.439;QD=17.67;ReadPosRankSum=-0.382;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CASR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000490186 GT:AD:DP:GQ:PL 0/1:17,22:39:99:719,0,580
3 122000726 rs10533065 CAT C 385.86 PASS AB=0.703;AC=1;AF=0.50;AN=2;BaseQRankSum=4.256;DB;DP=26;FS=0.0;HRun=0;HaplotypeScore=86.1288;IndelType=D;MQ=59.75;MQ0=0;MQRankSum=-1.038;QD=14.84;ReadPosRankSum=-1.972;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CASR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296154 GT:AD:DP:GQ:PL 0/1:15,11:26:99:425,0,816
3 122000871 rs4678174 C T 1452.63 PASS AB=0.387;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.787;DB;DP=75;Dels=0.0;FS=13.471;HRun=1;HaplotypeScore=0.0;MQ=59.75;MQ0=0;MQRankSum=-1.494;QD=19.37;ReadPosRankSum=1.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CASR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296154 GT:AD:DP:GQ:PL 0/1:29,46:75:99:1483,0,800
3 122001246 rs2270917 C T 51.22 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.61;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CASR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296154 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
3 122003045 rs2036400 G C 956.18 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=58.59;MQ0=0;QD=28.98;SNPEFF_AMINO_ACID_CHANGE=P748;SNPEFF_CODON_CHANGE=ccG/ccC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_122002534_122004134;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CASR;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000296154 GT:AD:DP:GQ:PL 1/1:0,33:33:78.24:989,78,0
3 122003757 rs1801725 G T 355.39 PASS AB=0.528;AC=1;AF=0.50;AN=2;BaseQRankSum=1.052;DB;DP=36;Dels=0.0;FS=1.468;HRun=0;HaplotypeScore=1.6918;MQ=58.58;MQ0=0;MQRankSum=-1.225;QD=9.87;ReadPosRankSum=-2.156;SNPEFF_AMINO_ACID_CHANGE=A986S;SNPEFF_CODON_CHANGE=Gcc/Tcc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_122002534_122004134;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CASR;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000296154 GT:AD:DP:GQ:PL 0/1:19,17:36:99:385,0,550
3 122003832 rs1801726 G C 1134.65 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.3656;MQ=58.71;MQ0=0;QD=31.52;SNPEFF_AMINO_ACID_CHANGE=E1011Q;SNPEFF_CODON_CHANGE=Gag/Cag;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_122002534_122004134;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CASR;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000296154 GT:AD:DP:GQ:PL 1/1:0,36:36:90.28:1168,90,0
3 122004098 rs4677948 A T 509.27 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.95;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CASR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296154 GT:AD:DP:GQ:PL 1/1:0,15:15:39.13:542,39,0
3 122056432 rs17589 C T 1469.15 PASS AB=0.628;AC=1;AF=0.50;AN=2;BaseQRankSum=2.35;DB;DP=129;Dels=0.0;FS=2.68;HRun=0;HaplotypeScore=1.9912;MQ=59.86;MQ0=0;MQRankSum=-0.834;QD=11.39;ReadPosRankSum=0.815;SNPEFF_AMINO_ACID_CHANGE=Y35;SNPEFF_CODON_CHANGE=taC/taT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_122056394_122056495;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CSTA;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000264474 GT:AD:DP:GQ:PL 0/1:81,48:129:99:1499,0,2421
3 122060404 rs34173813 C T 1307.40 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.971;DB;DP=88;Dels=0.0;FS=7.19;HRun=0;HaplotypeScore=0.9979;MQ=59.74;MQ0=0;MQRankSum=1.46;QD=14.86;ReadPosRankSum=0.242;SNPEFF_AMINO_ACID_CHANGE=T96M;SNPEFF_CODON_CHANGE=aCg/aTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_122060286_122060819;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CSTA;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000264474 GT:AD:DP:GQ:PL 0/1:44,44:88:99:1337,0,1305
3 122086960 rs3749212 C T 596.74 PASS AB=0.553;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.113;DB;DP=47;Dels=0.0;FS=1.488;HRun=2;HaplotypeScore=0.0;MQ=59.01;MQ0=0;MQRankSum=0.995;QD=12.7;ReadPosRankSum=-0.76;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC58;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000291458 GT:AD:DP:GQ:PL 0/1:26,21:47:99:627,0,834
3 122121563 rs3838601 T TTTTC 994.99 PASS AB=0.737;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.829;DB;DP=42;FS=4.322;HRun=0;HaplotypeScore=156.8702;IndelType=I;MQ=58.04;MQ0=0;MQRankSum=-0.31;QD=23.69;ReadPosRankSum=-1.079;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM162A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000232125 GT:AD:DP:GQ:PL 0/1:27,14:42:99:1034,0,985
3 122128466 rs4306808 G C 868.56 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.11;MQ0=0;QD=33.41;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM162A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469967 GT:AD:DP:GQ:PL 1/1:0,26:26:69.20:902,69,0
3 122145810 rs4677950 T A 587.45 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.72;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KPNA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000494339 GT:AD:DP:GQ:PL 1/1:0,16:16:45.15:620,45,0
3 122168341 rs3749209 C A 100.52 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.365;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.365;QD=10.05;ReadPosRankSum=0.741;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KPNA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464940 GT:AD:DP:GQ:PL 0/1:6,4:10:99:131,0,220
3 122182657 . A G 69.01 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.358;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=13.8;ReadPosRankSum=-1.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KPNA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344337 GT:AD:DP:GQ:PL 0/1:2,3:5:67.95:99,0,68
3 122186188 rs4678193 C T 1099.55 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.36;SNPEFF_AMINO_ACID_CHANGE=S73N;SNPEFF_CODON_CHANGE=aGt/aAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_122186169_122186276;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KPNA1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000344337 GT:AD:DP:GQ:PL 1/1:0,32:32:84.25:1133,84,0
3 122215166 rs9289194 A AAC 373.10 PASS AB=0.524;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.739;DB;DP=11;FS=0.0;HRun=0;HaplotypeScore=24.7298;IndelType=I;MQ=60.98;MQ0=0;MQRankSum=0.158;QD=33.92;ReadPosRankSum=-1.423;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KPNA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344337 GT:AD:DP:GQ:PL 0/1:1,10:11:0.95:411,0,1
3 122247673 rs16833165 T C 97 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.922;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.421;QD=12.12;ReadPosRankSum=-0.421;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PARP9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462315 GT:AD:DP:GQ:PL 0/1:4,4:8:99:127,0,140
3 122255708 rs2270859 G A 405.73 PASS AB=0.548;AC=1;AF=0.50;AN=2;BaseQRankSum=1.409;DB;DP=31;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=-0.179;QD=13.09;ReadPosRankSum=0.734;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PARP9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360356 GT:AD:DP:GQ:PL 0/1:17,14:31:99:436,0,518
3 122259606 rs9851180 T C 1625.26 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=0.722;DB;DP=88;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.8939;MQ=59.68;MQ0=0;MQRankSum=0.844;QD=18.47;ReadPosRankSum=-0.459;SNPEFF_AMINO_ACID_CHANGE=Y451C;SNPEFF_CODON_CHANGE=tAt/tGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_122259319_122259699;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PARP9;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000452457 GT:AD:DP:GQ:PL 0/1:33,55:88:99:1655,0,1080
3 122259640 rs28365795 T C 1256.17 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.469;DB;DP=80;Dels=0.0;FS=4.444;HRun=0;HaplotypeScore=1.9705;MQ=59.54;MQ0=0;MQRankSum=-0.33;QD=15.7;ReadPosRankSum=0.96;SNPEFF_AMINO_ACID_CHANGE=I440V;SNPEFF_CODON_CHANGE=Atc/Gtc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_122259319_122259699;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PARP9;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000452457 GT:AD:DP:GQ:PL 0/1:32,48:80:99:1286,0,1040
3 122259745 . G GT 371.24 PASS AB=0.731;AC=1;AF=0.50;AN=2;BaseQRankSum=1.572;DP=49;FS=2.09;HRun=10;HaplotypeScore=177.3101;IndelType=I;MQ=60.24;MQ0=0;MQRankSum=1.685;QD=7.58;ReadPosRankSum=-0.439;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PARP9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360356 GT:AD:DP:GQ:PL 0/1:31,18:49:99:410,0,423
3 122259782 rs9868934 A G 319.45 PASS AB=0.542;AC=1;AF=0.50;AN=2;BaseQRankSum=1.043;DB;DP=24;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.6651;MQ=59.59;MQ0=0;MQRankSum=-0.232;QD=13.31;ReadPosRankSum=-0.521;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PARP9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360356 GT:AD:DP:GQ:PL 0/1:13,11:24:99:349,0,423
3 122269380 rs1979853 A G 287.95 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.534;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.648;QD=19.2;ReadPosRankSum=-1.355;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PARP9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360356 GT:AD:DP:GQ:PL 0/1:6,9:15:99:318,0,210
3 122288210 rs2332285 G A 674.78 PASS AB=0.603;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.148;DB;DP=63;Dels=0.0;FS=0.983;HRun=1;HaplotypeScore=1.973;MQ=59.7;MQ0=0;MQRankSum=0.316;QD=10.71;ReadPosRankSum=-0.948;SNPEFF_AMINO_ACID_CHANGE=R425K;SNPEFF_CODON_CHANGE=aGg/aAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_122287336_122288871;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DTX3L;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000296161 GT:AD:DP:GQ:PL 0/1:38,25:63:99:705,0,1220
3 122289005 rs55797836 A G 107.01 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=0.55;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.937;QD=15.29;ReadPosRankSum=-0.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DTX3L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296161 GT:AD:DP:GQ:PL 0/1:3,4:7:98.05:137,0,98
3 122340626 rs12636277 C T 52.75 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=51.77;MQ0=0;QD=17.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PARP15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310366 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:84,6,0
3 122345870 rs17208928 C T 869.58 PASS AB=0.481;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.996;DB;DP=53;Dels=0.0;FS=2.534;HRun=0;HaplotypeScore=0.0;MQ=59.65;MQ0=0;MQRankSum=0.916;QD=16.41;ReadPosRankSum=-0.531;SNPEFF_AMINO_ACID_CHANGE=S223;SNPEFF_CODON_CHANGE=tcC/tcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_122345674_122345880;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PARP15;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000542823 GT:AD:DP:GQ:PL 0/1:25,27:53:99:900,0,784
3 122354037 rs1106346 A G 792.72 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.25;MQ0=0;QD=31.71;SNPEFF_AMINO_ACID_CHANGE=K278;SNPEFF_CODON_CHANGE=aaA/aaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_122353867_122354041;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PARP15;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000493645 GT:AD:DP:GQ:PL 1/1:0,25:25:66.20:826,66,0
3 122354052 rs1106345 A G 241.86 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=2.096;DB;DP=21;Dels=0.0;FS=3.68;HRun=0;HaplotypeScore=0.0;MQ=59.11;MQ0=0;MQRankSum=0.746;QD=11.52;ReadPosRankSum=-0.959;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PARP15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473627 GT:AD:DP:GQ:PL 0/1:12,9:21:99:272,0,438
3 122354716 rs61754895 C T 683.86 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.305;DB;DP=54;Dels=0.0;FS=1.065;HRun=0;HaplotypeScore=0.0;MQ=59.57;MQ0=0;MQRankSum=-0.879;QD=12.66;ReadPosRankSum=0.026;SNPEFF_AMINO_ACID_CHANGE=D299;SNPEFF_CODON_CHANGE=gaC/gaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_122354658_122355035;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PARP15;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000493645 GT:AD:DP:GQ:PL 0/1:30,24:54:99:714,0,824
3 122354792 rs12489170 G A 443.63 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.289;DB;DP=40;Dels=0.0;FS=2.944;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.532;QD=11.09;ReadPosRankSum=1.261;SNPEFF_AMINO_ACID_CHANGE=G325R;SNPEFF_CODON_CHANGE=Gga/Aga;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_122354658_122355035;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PARP15;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000493645 GT:AD:DP:GQ:PL 0/1:20,20:40:99:474,0,594
3 122406077 rs790131 G A 270.71 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.208;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.71;MQ0=0;MQRankSum=-0.618;QD=15.04;ReadPosRankSum=-2.119;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PARP14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310290 GT:AD:DP:GQ:PL 0/1:9,9:18:99:301,0,272
3 122420050 rs61732765 C T 352.88 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=0.817;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.746;QD=16.8;ReadPosRankSum=1.315;SNPEFF_AMINO_ACID_CHANGE=P802;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_122418237_122420482;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PARP14;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000398162 GT:AD:DP:GQ:PL 0/1:9,12:21:99:383,0,233
3 122437321 rs7645033 T C 7269.29 PASS AC=2;AF=1.00;AN=2;DB;DP=222;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.4677;MQ=59.6;MQ0=0;QD=32.74;SNPEFF_AMINO_ACID_CHANGE=Y1360;SNPEFF_CODON_CHANGE=taT/taC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_122437206_122437805;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PARP14;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000398162 GT:AD:DP:GQ:PL 1/1:0,219:222:99:7269,572,0
3 122437834 rs3821688 A G 1564.79 PASS AB=0.505;AC=1;AF=0.50;AN=2;BaseQRankSum=2.312;DB;DP=104;Dels=0.0;FS=4.624;HRun=0;HaplotypeScore=2.9788;MQ=60.0;MQ0=0;MQRankSum=-0.564;QD=15.05;ReadPosRankSum=-1.428;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PARP14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310290 GT:AD:DP:GQ:PL 0/1:52,51:104:99:1595,0,1522
3 122447574 rs3732832 A C 410.13 PASS AB=0.536;AC=1;AF=0.50;AN=2;BaseQRankSum=0.737;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.17;MQ0=0;MQRankSum=0.138;QD=14.65;ReadPosRankSum=0.322;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PARP14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398157 GT:AD:DP:GQ:PL 0/1:15,13:28:99:440,0,537
3 122447596 rs7648262 C T 842.18 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.95;MQ0=0;QD=38.28;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PARP14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398157 GT:AD:DP:GQ:PL 1/1:0,22:22:66.21:875,66,0
3 122471407 rs34273669 TA T 99.84 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.264;DB;DP=22;FS=0.0;HRun=16;HaplotypeScore=132.5137;IndelType=D;MQ=58.32;MQ0=0;MQRankSum=0.896;QD=4.54;ReadPosRankSum=0.474;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HSPBAP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465044 GT:AD:DP:GQ:PL 0/1:11,10:22:75.49:139,0,75
3 122474305 rs6794019 C A 242.95 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.177;DB;DP=18;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.8808;MQ=54.65;MQ0=0;MQRankSum=0.088;QD=13.5;ReadPosRankSum=1.854;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HSPBAP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478601 GT:AD:DP:GQ:PL 0/1:9,9:18:99:273,0,231
3 122512631 rs3806643 G A 161.13 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.581;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=0.065;QD=11.51;ReadPosRankSum=-0.065;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DIRC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000261038 GT:AD:DP:GQ:PL 0/1:8,6:14:99:191,0,260
3 122512689 rs115445641 C T 41.96 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.358;QD=8.39;ReadPosRankSum=-1.231;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DIRC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000261038 GT:AD:DP:GQ:PL 0/1:2,3:5:51.99:72,0,52
3 122512749 rs79039553 A G 48.57 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.28;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DIRC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000261038 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:80,6,0
3 122513964 rs891406 A C 35.21 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=11.74;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HSPBAP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000306103 GT:AD:DP:GQ:PL 1/1:0,3:3:6.01:66,6,0
3 122545494 rs9853452 A G 38.62 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.026;QD=9.65;ReadPosRankSum=1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DIRC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000261038 GT:AD:DP:GQ:PL 0/1:2,2:4:66.59:69,0,67
3 122598291 rs2288677 A G 1679.03 PASS AB=0.446;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.684;DB;DP=101;Dels=0.0;FS=3.434;HRun=1;HaplotypeScore=1.9866;MQ=59.08;MQ0=0;MQRankSum=0.878;QD=16.62;ReadPosRankSum=0.762;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DIRC2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000261038 GT:AD:DP:GQ:PL 0/1:45,56:101:99:1709,0,1556
3 122629589 rs7622250 A G 106.61 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=39.16;MQ0=0;QD=26.65;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SEMA5B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000393583 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:139,12,0
3 122630323 rs2303982 T G 170.33 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.33;SNPEFF_AMINO_ACID_CHANGE=T1034P;SNPEFF_CODON_CHANGE=Acc/Ccc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_122630207_122630382;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SEMA5B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000195173 GT:AD:DP:GQ:PL 1/1:0,7:7:15.05:203,15,0
3 122630346 rs2303983 T C 250.83 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.83;SNPEFF_AMINO_ACID_CHANGE=D1026G;SNPEFF_CODON_CHANGE=gAc/gGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_122630207_122630382;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SEMA5B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000195173 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:284,21,0
3 122631896 rs2276782 A T 253.76 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.25;SNPEFF_AMINO_ACID_CHANGE=V782D;SNPEFF_CODON_CHANGE=gTc/gAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_122631690_122631908;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SEMA5B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000418793 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:287,21,0
3 122632436 rs2276781 A G 57.04 PASS AB=0.727;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.382;DB;DP=11;Dels=0.0;FS=3.09;HRun=0;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=1.106;QD=5.19;ReadPosRankSum=-0.382;SNPEFF_AMINO_ACID_CHANGE=M684T;SNPEFF_CODON_CHANGE=aTg/aCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_122632381_122632528;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SEMA5B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000418793 GT:AD:DP:GQ:PL 0/1:8,3:11:87.03:87,0,252
3 122642263 rs7651952 G T 52.22 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;QD=13.06;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SEMA5B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000195173 GT:AD:DP:GQ:PL 1/1:1,3:4:6.02:83,6,0
3 122642294 rs7619187 T C 122.89 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=-0.731;QD=20.48;ReadPosRankSum=0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SEMA5B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000195173 GT:AD:DP:GQ:PL 0/1:2,4:6:24.96:153,0,25
3 122642401 rs2276780 G A 431.95 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.409;DB;DP=26;Dels=0.0;FS=5.849;HRun=0;HaplotypeScore=4.2633;MQ=55.4;MQ0=0;MQRankSum=-1.354;QD=16.61;ReadPosRankSum=0.913;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SEMA5B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000195173 GT:AD:DP:GQ:PL 0/1:12,14:26:99:462,0,290
3 122642415 rs2276779 G C 430.07 PASS AB=0.441;AC=1;AF=0.50;AN=2;BaseQRankSum=0.111;DB;DP=34;Dels=0.0;FS=9.023;HRun=0;HaplotypeScore=7.4133;MQ=55.8;MQ0=0;MQRankSum=-1.085;QD=12.65;ReadPosRankSum=0.288;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SEMA5B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000195173 GT:AD:DP:GQ:PL 0/1:15,19:34:99:460,0,321
3 122642590 rs2276778 G A 1141.88 PASS AB=0.446;AC=1;AF=0.50;AN=2;BaseQRankSum=1.326;DB;DP=65;Dels=0.0;FS=2.137;HRun=1;HaplotypeScore=0.9894;MQ=55.97;MQ0=0;MQRankSum=0.587;QD=17.57;ReadPosRankSum=0.983;SNPEFF_AMINO_ACID_CHANGE=I324;SNPEFF_CODON_CHANGE=atC/atT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_122642464_122642599;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SEMA5B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000418793 GT:AD:DP:GQ:PL 0/1:29,36:65:99:1172,0,848
3 122642724 rs3832229 A ACAC 1193.91 PASS AC=2;AF=1.00;AN=2;DB;DP=19;FS=0.0;HRun=0;HaplotypeScore=55.8389;IndelType=I;MQ=49.29;MQ0=0;QD=62.84;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SEMA5B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000195173 GT:AD:DP:GQ:PL 1/1:1,18:19:54.19:1236,54,0
3 122645277 rs2276777 C T 97.23 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=1.932;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.6;QD=6.94;ReadPosRankSum=0.0;SNPEFF_AMINO_ACID_CHANGE=P308;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_122645239_122645524;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SEMA5B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000418793 GT:AD:DP:GQ:PL 0/1:10,4:14:99:127,0,262
3 122645304 rs2276776 G A 182.19 PASS AB=0.632;AC=1;AF=0.50;AN=2;BaseQRankSum=1.268;DB;DP=19;Dels=0.0;FS=5.008;HRun=0;HaplotypeScore=0.8667;MQ=57.77;MQ0=0;MQRankSum=-0.272;QD=9.59;ReadPosRankSum=-0.091;SNPEFF_AMINO_ACID_CHANGE=N299;SNPEFF_CODON_CHANGE=aaC/aaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_122645239_122645524;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SEMA5B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000418793 GT:AD:DP:GQ:PL 0/1:12,7:19:99:212,0,354
3 122645606 rs79543585 G A 112.37 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=1.183;DB;DP=21;Dels=0.0;FS=2.077;HRun=0;HaplotypeScore=0.0;MQ=57.77;MQ0=0;MQRankSum=0.394;QD=5.35;ReadPosRankSum=-2.267;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SEMA5B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000195173 GT:AD:DP:GQ:PL 0/1:14,6:21:99:142,0,429
3 122646591 rs73856750 C A 64.95 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=0.55;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=9.28;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SEMA5B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000195173 GT:AD:DP:GQ:PL 0/1:4,3:7:93.27:95,0,93
3 122646734 rs2276775 C T 340.11 PASS AB=0.448;AC=1;AF=0.50;AN=2;BaseQRankSum=1.425;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9248;MQ=59.2;MQ0=0;MQRankSum=-0.592;QD=11.73;ReadPosRankSum=-1.381;SNPEFF_AMINO_ACID_CHANGE=T193;SNPEFF_CODON_CHANGE=acG/acA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_122646637_122646850;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SEMA5B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000418793 GT:AD:DP:GQ:PL 0/1:13,16:29:99:370,0,374
3 122646828 rs2276774 A G 381.91 PASS AB=0.346;AC=1;AF=0.50;AN=2;BaseQRankSum=0.269;DB;DP=26;Dels=0.0;FS=4.117;HRun=0;HaplotypeScore=3.9348;MQ=58.02;MQ0=0;MQRankSum=0.216;QD=14.69;ReadPosRankSum=-1.132;SNPEFF_AMINO_ACID_CHANGE=I162T;SNPEFF_CODON_CHANGE=aTt/aCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_122646637_122646850;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SEMA5B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000418793 GT:AD:DP:GQ:PL 0/1:9,17:26:99:412,0,235
3 122646929 rs79679922 C T 104.63 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=0.55;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.937;QD=14.95;ReadPosRankSum=-0.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SEMA5B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000195173 GT:AD:DP:GQ:PL 0/1:3,4:7:98.07:135,0,98
3 122667277 rs2288678 A G 79.43 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.04;MQ0=0;MQRankSum=-1.38;QD=13.24;ReadPosRankSum=0.72;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SEMA5B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000449546 GT:AD:DP:GQ:PL 0/1:2,4:6:64.61:109,0,65
3 122680171 rs4677985 A G 99.59 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=1.485;DB;DP=14;Dels=0.0;FS=2.963;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.919;QD=7.11;ReadPosRankSum=0.919;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SEMA5B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000195173 GT:AD:DP:GQ:PL 0/1:10,4:14:99:130,0,299
3 122807995 rs836860 G A 798.97 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=3.451;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.34;MQ0=0;MQRankSum=-0.858;QD=22.83;ReadPosRankSum=-0.42;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PDIA5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000316218 GT:AD:DP:GQ:PL 0/1:10,25:35:99:829,0,254
3 122811042 rs836863 A G 167.19 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.44;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PDIA5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000316218 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:200,15,0
3 122821385 rs2241961 T C 312.37 PASS AB=0.313;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.832;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=58.55;MQ0=0;MQRankSum=-0.566;QD=19.52;ReadPosRankSum=0.793;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PDIA5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000316218 GT:AD:DP:GQ:PL 0/1:5,11:16:99:342,0,157
3 122835210 rs836840 A G 153.07 PASS AB=0.632;AC=1;AF=0.50;AN=2;BaseQRankSum=0.042;DB;DP=19;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.549;QD=8.06;ReadPosRankSum=-1.564;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PDIA5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000316218 GT:AD:DP:GQ:PL 0/1:12,7:19:99:183,0,412
3 122843020 rs836854 T C 685.30 PASS AB=0.478;AC=1;AF=0.50;AN=2;BaseQRankSum=2.423;DB;DP=46;Dels=0.0;FS=6.267;HRun=2;HaplotypeScore=1.8924;MQ=59.09;MQ0=0;MQRankSum=-0.353;QD=14.9;ReadPosRankSum=0.102;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PDIA5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000316218 GT:AD:DP:GQ:PL 0/1:22,24:46:99:715,0,608
3 122843110 rs861375 G T 740.01 PASS AB=0.534;AC=1;AF=0.50;AN=2;BaseQRankSum=3.908;DB;DP=58;Dels=0.0;FS=3.671;HRun=3;HaplotypeScore=0.9979;MQ=60.0;MQ0=0;MQRankSum=0.647;QD=12.76;ReadPosRankSum=1.862;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PDIA5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000316218 GT:AD:DP:GQ:PL 0/1:31,27:58:99:770,0,839
3 122849625 rs2673334 G A 92.72 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PDIA5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000316218 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:125,9,0
3 122864436 rs8739 G A 395.32 PASS AB=0.632;AC=1;AF=0.50;AN=2;BaseQRankSum=1.528;DB;DP=38;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9867;MQ=57.53;MQ0=0;MQRankSum=0.166;QD=10.4;ReadPosRankSum=-0.257;SNPEFF_AMINO_ACID_CHANGE=A326;SNPEFF_CODON_CHANGE=gcG/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_122864369_122864439;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PDIA5;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000316218 GT:AD:DP:GQ:PL 0/1:24,14:38:99:425,0,684
3 122864587 rs3215241 TAGAC T 227.77 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=6;FS=0.0;HRun=0;HaplotypeScore=33.6172;IndelType=D;MQ=49.37;MQ0=0;MQRankSum=-0.736;QD=37.96;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PDIA5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000316218 GT:AD:DP:GQ:PL 0/1:1,5:6:63.01:267,0,63
3 122864771 rs1976714 G T 218.16 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.067;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.13;MQ0=0;MQRankSum=-1.406;QD=15.58;ReadPosRankSum=1.276;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PDIA5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000316218 GT:AD:DP:GQ:PL 0/1:7,7:14:99:248,0,225
3 122864807 rs3841639 T TG 398.76 PASS AB=0.711;AC=1;AF=0.50;AN=2;BaseQRankSum=4.143;DB;DP=32;FS=0.0;HRun=3;HaplotypeScore=163.6772;IndelType=I;MQ=59.96;MQ0=0;MQRankSum=-1.061;QD=12.46;ReadPosRankSum=-1.301;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PDIA5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000316218 GT:AD:DP:GQ:PL 0/1:19,13:32:99:438,0,555
3 122864818 rs1567991 T C 358.53 PASS AB=0.588;AC=1;AF=0.50;AN=2;BaseQRankSum=1.187;DB;DP=35;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.65;MQ0=0;MQRankSum=0.097;QD=10.24;ReadPosRankSum=-1.421;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PDIA5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000316218 GT:AD:DP:GQ:PL 0/1:20,14:35:99:389,0,707
3 122865136 rs2673345 T A 759.39 PASS AB=0.415;AC=1;AF=0.50;AN=2;BaseQRankSum=2.104;DB;DP=41;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.54;MQ0=0;MQRankSum=1.231;QD=18.52;ReadPosRankSum=0.675;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PDIA5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472319 GT:AD:DP:GQ:PL 0/1:17,24:41:99:789,0,529
3 122865260 rs2247505 G A 39.72 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=13.24;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PDIA5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472319 GT:AD:DP:GQ:PL 0/1:1,2:3:33.62:70,0,34
3 122865263 rs2673344 C T 89.85 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.46;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PDIA5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472319 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:122,9,0
3 122873923 rs2717225 G C 1496.99 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.51;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PDIA5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000485208 GT:AD:DP:GQ:PL 1/1:0,41:41:99:1530,114,0
3 122880118 rs3828393 G A 669.31 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.22;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.41;MQ0=0;MQRankSum=-0.074;QD=17.16;ReadPosRankSum=0.67;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PDIA5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000316218 GT:AD:DP:GQ:PL 0/1:13,26:39:99:699,0,406
3 122942782 rs12487554 G A 49.41 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.7;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SEC22A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466519 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
3 123008519 rs4677881 T G 546.30 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.84;MQ0=0;QD=27.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADCY5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309879 GT:AD:DP:GQ:PL 1/1:0,20:20:45.14:579,45,0
3 123010276 rs9809236 G A 830.93 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.03;MQ0=0;QD=34.62;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADCY5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309879 GT:AD:DP:GQ:PL 1/1:0,24:24:66.20:864,66,0
3 123014877 rs9881951 C T 566.28 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.5661;MQ=60.0;MQ0=0;QD=31.46;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADCY5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466617 GT:AD:DP:GQ:PL 1/1:0,18:18:45.14:599,45,0
3 123015094 rs9882534 G C 981.53 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.67;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADCY5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466617 GT:AD:DP:GQ:PL 1/1:0,32:32:84.25:1015,84,0
3 123018963 rs4482616 A G 871.04 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.04;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADCY5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466617 GT:AD:DP:GQ:PL 1/1:0,29:29:72.20:904,72,0
3 123021838 rs9877581 A G 447.87 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.83;MQ0=0;QD=27.99;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADCY5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309879 GT:AD:DP:GQ:PL 1/1:0,16:16:39.12:481,39,0
3 123021870 rs9844212 G C 749.12 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.19;MQ0=0;QD=32.57;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADCY5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309879 GT:AD:DP:GQ:PL 1/1:0,23:23:57.19:782,57,0
3 123037047 rs4327330 A C 47.50 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.75;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADCY5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309879 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
3 123047357 rs186526882 C T 113.11 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.517;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.05;MQ0=0;MQRankSum=0.322;QD=14.14;ReadPosRankSum=0.322;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADCY5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000476455 GT:AD:DP:GQ:PL 0/1:3,5:8:99:143,0,104
3 123047478 rs9855635 A G 957.16 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.5592;MQ=60.0;MQ0=0;QD=29.91;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADCY5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000476455 GT:AD:DP:GQ:PL 1/1:0,32:32:81.23:990,81,0
3 123047666 rs9855969 A G 385.98 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.17;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADCY5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000476455 GT:AD:DP:GQ:PL 1/1:0,12:12:33.09:419,33,0
3 123049707 rs9829332 G T 394.15 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.63;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADCY5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000476455 GT:AD:DP:GQ:PL 1/1:0,16:16:39.04:427,39,0
3 123049938 rs6806529 A C 294.53 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.05;MQ0=0;QD=24.54;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADCY5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000476455 GT:AD:DP:GQ:PL 1/1:0,12:12:27.08:328,27,0
3 123066485 rs6438788 G T 779.16 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.34;MQ0=0;QD=28.86;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADCY5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470367 GT:AD:DP:GQ:PL 1/1:0,26:27:69.16:812,69,0
3 123066555 rs112525497 A AAAGG 5215.70 PASS AC=2;AF=1.00;AN=2;DB;DP=73;FS=0.0;HRun=0;HaplotypeScore=270.1226;IndelType=I;MQ=53.9;MQ0=0;QD=71.45;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADCY5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470367 GT:AD:DP:GQ:PL 1/1:8,60:73:99:5216,208,0
3 123066883 rs10669335 A AGTGT 337.91 PASS AC=2;AF=1.00;AN=2;DB;DP=12;FS=0.0;HRun=0;HaplotypeScore=87.3973;IndelType=I;MQ=55.45;MQ0=0;QD=28.16;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADCY5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470367 GT:AD:DP:GQ:PL 1/1:5,6:12:20.81:380,21,0
3 123167249 rs4678027 G A 43.02 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.51;SNPEFF_AMINO_ACID_CHANGE=G48;SNPEFF_CODON_CHANGE=ggC/ggT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_123166259_123168605;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ADCY5;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000462833 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:74,6,0
3 123219137 rs959432 G A 49.41 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=49.84;MQ0=0;QD=24.7;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=PTPLB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469317 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
3 123332875 rs11399895 G GT 89.62 QDFilter2 AB=0.864;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.21;DB;DP=102;FS=2.414;HRun=16;HaplotypeScore=756.6719;IndelType=I;MQ=53.38;MQ0=0;MQRankSum=0.07;QD=0.88;ReadPosRankSum=0.729;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYLK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000346322 GT:AD:DP:GQ:PL 0/1:72,11:102:99:129,0,479
3 123378534 rs39639 C G 452.65 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.82;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYLK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000346322 GT:AD:DP:GQ:PL 1/1:0,13:13:36.10:486,36,0
3 123382831 rs820324 A G 2253.28 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.21;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYLK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000510775 GT:AD:DP:GQ:PL 1/1:0,63:63:99:2286,175,0
3 123385677 rs820325 G A 46.56 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.28;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYLK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000511058 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:78,6,0
3 123411589 rs40305 G A 440.94 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=2.137;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.966;QD=18.37;ReadPosRankSum=0.732;SNPEFF_AMINO_ACID_CHANGE=T1117;SNPEFF_CODON_CHANGE=acC/acT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_123411582_123411698;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYLK;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000346322 GT:AD:DP:GQ:PL 0/1:10,14:24:99:471,0,279
3 123418913 rs865358 G A 2669.91 PASS AC=2;AF=1.00;AN=2;DB;DP=75;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.3639;MQ=59.38;MQ0=0;QD=35.6;SNPEFF_AMINO_ACID_CHANGE=N1065;SNPEFF_CODON_CHANGE=aaC/aaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_123418867_123419852;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYLK;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000346322 GT:AD:DP:GQ:PL 1/1:0,75:75:99:2703,199,0
3 123440967 rs820355 G A 48.08 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=49.84;MQ0=0;QD=24.04;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYLK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000346322 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
3 123441179 rs820356 C T 114.52 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=48.31;MQ0=0;QD=28.63;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYLK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000346322 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:147,12,0
3 123451773 rs9833275 G C 761.34 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.57;MQ0=0;QD=26.25;SNPEFF_AMINO_ACID_CHANGE=L496V;SNPEFF_CODON_CHANGE=Ctg/Gtg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_123451743_123451949;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYLK;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000359169 GT:AD:DP:GQ:PL 1/1:0,29:29:57.19:794,57,0
3 123452838 rs4678047 G A 1797.53 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.1;SNPEFF_AMINO_ACID_CHANGE=T335;SNPEFF_CODON_CHANGE=acC/acT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_123452534_123453069;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYLK;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000346322 GT:AD:DP:GQ:PL 1/1:0,56:56:99:1831,144,0
3 123456070 rs66847158 G GA 91.21 PASS AC=2;AF=1.00;AN=2;DB;DP=9;FS=0.0;HRun=14;HaplotypeScore=78.3359;IndelType=I;MQ=50.18;MQ0=0;QD=10.13;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYLK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000506361 GT:AD:DP:GQ:PL 1/1:2,5:9:18.58:133,19,0
3 123456432 rs2168439 C T 1707.27 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;QD=28.45;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYLK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000510571 GT:AD:DP:GQ:PL 1/1:0,60:60:99:1740,138,0
3 123457711 rs2198766 C A 416.11 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.83;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYLK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000510571 GT:AD:DP:GQ:PL 1/1:0,11:11:33.11:449,33,0
3 123457893 rs9840993 G A 1209.62 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.66;SNPEFF_AMINO_ACID_CHANGE=P147S;SNPEFF_CODON_CHANGE=Cca/Tca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_123457744_123457909;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYLK;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000346322 GT:AD:DP:GQ:PL 1/1:0,33:33:96.30:1243,96,0
3 123470991 rs4677901 G T 128.17 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.04;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MYLK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000346322 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:161,12,0
3 123633612 rs11551801 G A 127.04 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=1.945;DB;DP=16;Dels=0.0;FS=3.979;HRun=1;HaplotypeScore=0.9159;MQ=60.0;MQ0=0;MQRankSum=1.355;QD=7.94;ReadPosRankSum=1.355;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CCDC14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000419247 GT:AD:DP:GQ:PL 0/1:10,6:16:99:157,0,316
3 123634046 rs2700373 G A 939.65 PASS AB=0.575;AC=1;AF=0.50;AN=2;BaseQRankSum=3.387;DB;DP=73;Dels=0.0;FS=6.81;HRun=0;HaplotypeScore=0.9916;MQ=60.0;MQ0=0;MQRankSum=0.352;QD=12.87;ReadPosRankSum=0.24;SNPEFF_AMINO_ACID_CHANGE=S312;SNPEFF_CODON_CHANGE=agC/agT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_123634046_123634136;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CCDC14;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000419247 GT:AD:DP:GQ:PL 0/1:42,31:73:99:970,0,1189
3 123650432 rs2271969 A G 159.77 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.445;DB;DP=24;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=3.0933;MQ=56.79;MQ0=0;MQRankSum=-1.97;QD=6.66;ReadPosRankSum=1.773;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CCDC14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471054 GT:AD:DP:GQ:PL 0/1:12,12:24:99:190,0,375
3 123650447 rs10573718 TA T 30.05 PASS AB=0.684;AC=1;AF=0.50;AN=2;BaseQRankSum=1.495;DB;DP=13;FS=0.0;HRun=16;HaplotypeScore=93.2986;IndelType=D;MQ=53.93;MQ0=0;MQRankSum=-1.495;QD=2.31;ReadPosRankSum=-0.198;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CCDC14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471054 GT:AD:DP:GQ:PL 0/1:7,6:13:29.71:69,0,30
3 123652476 rs6784695 G A 330.86 PASS AB=0.567;AC=1;AF=0.50;AN=2;BaseQRankSum=4.06;DB;DP=30;Dels=0.0;FS=5.371;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.167;QD=11.03;ReadPosRankSum=0.586;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CCDC14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310351 GT:AD:DP:GQ:PL 0/1:17,13:30:99:361,0,498
3 123665448 rs1879362 C T 46.65 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=11.66;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CCDC14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000417438 GT:AD:DP:GQ:PL 1/1:0,4:4:6.02:78,6,0
3 123665902 rs17310144 T G 2070.24 PASS AB=0.592;AC=1;AF=0.50;AN=2;BaseQRankSum=1.387;DB;DP=179;Dels=0.0;FS=2.689;HRun=1;HaplotypeScore=0.9665;MQ=59.48;MQ0=0;MQRankSum=0.973;QD=11.57;ReadPosRankSum=1.281;SNPEFF_AMINO_ACID_CHANGE=T165P;SNPEFF_CODON_CHANGE=Acg/Ccg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_123665650_123666166;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CCDC14;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000485727 GT:AD:DP:GQ:PL 0/1:106,73:179:99:2100,0,3295
3 123666192 rs17375977 C T 805.56 PASS AB=0.595;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.427;DB;DP=75;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.8321;MQ=59.07;MQ0=0;MQRankSum=-0.805;QD=10.74;ReadPosRankSum=-0.565;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CCDC14;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000417438 GT:AD:DP:GQ:PL 0/1:44,30:75:99:836,0,1364
3 123688760 rs34337446 C G 61.53 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.537;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.988;QD=10.26;ReadPosRankSum=-1.537;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ROPN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000487124 GT:AD:DP:GQ:PL 0/1:3,3:6:91.53:92,0,108
3 123988039 rs2272486 T C 452.78 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.471;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.554;QD=12.58;ReadPosRankSum=-1.44;SNPEFF_AMINO_ACID_CHANGE=H300;SNPEFF_CODON_CHANGE=caT/caC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_123987590_123988102;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KALRN;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000240874 GT:AD:DP:GQ:PL 0/1:18,18:36:99:483,0,524
3 124044949 rs2289778 C T 2006.98 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.62;MQ0=0;QD=32.9;SNPEFF_AMINO_ACID_CHANGE=F403;SNPEFF_CODON_CHANGE=ttC/ttT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_124044827_124045018;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KALRN;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000240874 GT:AD:DP:GQ:PL 1/1:0,61:61:99:2040,153,0
3 124066121 rs67454662 C CTG 99.02 PASS AB=0.898;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.186;DB;DP=44;FS=0.0;HRun=0;HaplotypeScore=279.0012;IndelType=I;MQ=52.46;MQ0=0;MQRankSum=1.408;QD=2.25;ReadPosRankSum=-0.825;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KALRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000240874 GT:AD:DP:GQ:PL 0/1:32,5:44:71.83:138,0,72
3 124113929 rs482285 A T 637.53 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.5;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KALRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000240874 GT:AD:DP:GQ:PL 1/1:0,17:17:48.16:671,48,0
3 124128938 rs647010 A G 588.04 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.63;MQ0=0;QD=34.59;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KALRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000240874 GT:AD:DP:GQ:PL 1/1:0,17:17:48.15:621,48,0
3 124129357 rs9809750 T G 51.75 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KALRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000240874 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:83,6,0
3 124132263 rs2289846 A T 337.11 PASS AB=0.476;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.57;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.669;QD=16.05;ReadPosRankSum=-0.106;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KALRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000240874 GT:AD:DP:GQ:PL 0/1:10,11:21:99:367,0,353
3 124132568 rs6762346 T G 66.07 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=0.895;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.895;QD=6.61;ReadPosRankSum=1.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KALRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000240874 GT:AD:DP:GQ:PL 0/1:7,3:10:96.07:96,0,259
3 124160679 rs113135607 GA G 81.94 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=0.533;DB;DP=14;FS=0.0;HRun=13;HaplotypeScore=79.4426;IndelType=D;MQ=55.69;MQ0=0;MQRankSum=1.381;QD=5.85;ReadPosRankSum=0.817;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KALRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000240874 GT:AD:DP:GQ:PL 0/1:6,7:14:99:121,0,108
3 124165217 rs624450 G A 486.08 PASS AB=0.379;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.393;DB;DP=30;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9578;MQ=58.45;MQ0=0;MQRankSum=-1.16;QD=16.2;ReadPosRankSum=0.814;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KALRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000240874 GT:AD:DP:GQ:PL 0/1:11,18:30:99:516,0,346
3 124174337 rs4677927 A C 267.06 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KALRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000240874 GT:AD:DP:GQ:PL 1/1:0,8:8:24.07:300,24,0
3 124195987 rs572145 T C 287.54 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.94;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KALRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000240874 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:321,24,0
3 124209438 rs2289841 A G 188.92 PASS AB=0.143;AC=1;AF=0.50;AN=2;BaseQRankSum=0.742;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.742;QD=26.99;ReadPosRankSum=0.742;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KALRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000393501 GT:AD:DP:GQ:PL 0/1:1,6:7:16.73:219,0,17
3 124237343 . G A 740.14 PASS AB=0.481;AC=1;AF=0.50;AN=2;BaseQRankSum=0.633;DP=54;Dels=0.0;FS=4.723;HRun=0;HaplotypeScore=2.3883;MQ=58.71;MQ0=0;MQRankSum=-0.347;QD=13.71;ReadPosRankSum=-0.775;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KALRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360013 GT:AD:DP:GQ:PL 0/1:26,28:54:99:770,0,788
3 124281980 rs2256831 T C 318.79 PASS AB=0.639;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.68;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9578;MQ=59.36;MQ0=0;MQRankSum=-0.659;QD=8.86;ReadPosRankSum=-0.263;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KALRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360013 GT:AD:DP:GQ:PL 0/1:23,13:36:99:349,0,712
3 124303786 rs2250757 G C 38.43 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.231;QD=7.69;ReadPosRankSum=-1.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KALRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000291478 GT:AD:DP:GQ:PL 0/1:3,2:5:68.42:68,0,86
3 124351316 rs1708303 G A 673.81 PASS AB=0.366;AC=1;AF=0.50;AN=2;BaseQRankSum=0.366;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=58.29;MQ0=0;MQRankSum=0.776;QD=16.43;ReadPosRankSum=-0.161;SNPEFF_AMINO_ACID_CHANGE=V115;SNPEFF_CODON_CHANGE=gtG/gtA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_124351267_124351550;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KALRN;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000393496 GT:AD:DP:GQ:PL 0/1:15,26:41:99:704,0,375
3 124351424 rs1660038 T C 1063.88 PASS AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=2.469;DB;DP=77;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9947;MQ=59.7;MQ0=0;MQRankSum=0.738;QD=13.82;ReadPosRankSum=0.398;SNPEFF_AMINO_ACID_CHANGE=L151;SNPEFF_CODON_CHANGE=ctT/ctC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_124351267_124351550;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KALRN;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000393496 GT:AD:DP:GQ:PL 0/1:40,36:77:99:1094,0,1202
3 124352573 rs652046 A G 44.97 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=14.99;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KALRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471431 GT:AD:DP:GQ:PL 0/1:1,2:3:26.22:75,0,26
3 124369640 rs11372663 T TA 1246.72 PASS AB=0.711;AC=1;AF=0.50;AN=2;BaseQRankSum=6.656;DB;DP=81;FS=6.662;HRun=0;HaplotypeScore=302.869;IndelType=I;MQ=59.68;MQ0=0;MQRankSum=-0.098;QD=15.39;ReadPosRankSum=-0.518;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KALRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000291478 GT:AD:DP:GQ:PL 0/1:48,33:81:99:1286,0,1728
3 124369650 rs2291988 T C 938.60 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=1.763;DB;DP=81;Dels=0.0;FS=8.269;HRun=0;HaplotypeScore=0.0;MQ=59.41;MQ0=0;MQRankSum=0.138;QD=11.59;ReadPosRankSum=-0.765;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KALRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000291478 GT:AD:DP:GQ:PL 0/1:45,36:81:99:969,0,1464
3 124374259 rs4677938 G A 123.31 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.83;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KALRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000454902 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:156,12,0
3 124374405 rs4677939 A C 586.58 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=2.731;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9973;MQ=60.0;MQ0=0;MQRankSum=0.741;QD=19.55;ReadPosRankSum=0.953;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KALRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000454902 GT:AD:DP:GQ:PL 0/1:12,18:30:99:617,0,326
3 124376653 rs106520 G A 509.44 PASS AB=0.438;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.102;DB;DP=32;Dels=0.0;FS=1.455;HRun=1;HaplotypeScore=0.0;MQ=58.69;MQ0=0;MQRankSum=-0.644;QD=15.92;ReadPosRankSum=-0.229;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KALRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000291478 GT:AD:DP:GQ:PL 0/1:14,18:32:99:539,0,412
3 124377196 rs10804562 G A 374.63 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=2.994;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.17;MQ0=0;MQRankSum=0.766;QD=13.38;ReadPosRankSum=-0.209;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KALRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000291478 GT:AD:DP:GQ:PL 0/1:16,12:28:99:405,0,454
3 124378386 rs333297 C G 200.48 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=3.183;DB;DP=15;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.405;QD=13.37;ReadPosRankSum=-1.215;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KALRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000291478 GT:AD:DP:GQ:PL 0/1:8,7:15:99:230,0,232
3 124378412 rs10755078 A G 168.87 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=0.968;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.839;QD=12.06;ReadPosRankSum=-0.839;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KALRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000291478 GT:AD:DP:GQ:PL 0/1:8,6:14:99:199,0,287
3 124379641 rs333291 C A 112.68 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.667;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.667;QD=8.05;ReadPosRankSum=-1.733;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KALRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000291478 GT:AD:DP:GQ:PL 0/1:9,5:14:99:143,0,323
3 124379748 rs333290 G C 737.40 PASS AB=0.547;AC=1;AF=0.50;AN=2;BaseQRankSum=1.312;DB;DP=53;Dels=0.0;FS=4.405;HRun=2;HaplotypeScore=0.9789;MQ=59.13;MQ0=0;MQRankSum=0.395;QD=13.91;ReadPosRankSum=-0.285;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KALRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000291478 GT:AD:DP:GQ:PL 0/1:29,24:53:99:767,0,812
3 124379817 rs333289 T C 855.68 PASS AB=0.493;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.772;DB;DP=67;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.03;MQ0=0;MQRankSum=1.319;QD=12.77;ReadPosRankSum=0.23;SNPEFF_AMINO_ACID_CHANGE=I179;SNPEFF_CODON_CHANGE=atT/atC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_124379770_124379820;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KALRN;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000459915 GT:AD:DP:GQ:PL 0/1:33,34:67:99:886,0,1010
3 124393074 rs333356 A G 119.86 PASS AB=0.688;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.68;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.227;QD=7.49;ReadPosRankSum=-2.152;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KALRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000291478 GT:AD:DP:GQ:PL 0/1:11,5:16:99:150,0,404
3 124393595 rs333355 A G 35.47 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.38;QD=5.91;ReadPosRankSum=-0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KALRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000291478 GT:AD:DP:GQ:PL 0/1:4,2:6:65.46:65,0,150
3 124393610 rs333354 A G 34.42 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.72;QD=5.74;ReadPosRankSum=-0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KALRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000291478 GT:AD:DP:GQ:PL 0/1:4,2:6:64.41:64,0,124
3 124397249 rs35286809 AT A 55.27 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.766;DB;DP=18;FS=0.0;HRun=12;HaplotypeScore=95.7287;IndelType=D;MQ=51.77;MQ0=0;MQRankSum=-0.884;QD=3.07;ReadPosRankSum=0.766;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KALRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000393496 GT:AD:DP:GQ:PL 0/1:12,6:18:94.30:94,0,227
3 124398112 rs13097459 C T 83.57 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.89;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KALRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000393496 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:116,9,0
3 124412524 rs2289428 T G 37.29 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=4;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=9.32;ReadPosRankSum=-1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KALRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000291478 GT:AD:DP:GQ:PL 0/1:2,2:4:67.28:67,0,69
3 124412634 rs333283 G T 408.66 PASS AB=0.605;AC=1;AF=0.50;AN=2;BaseQRankSum=0.236;DB;DP=43;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9734;MQ=60.0;MQ0=0;MQRankSum=0.782;QD=9.5;ReadPosRankSum=-1.95;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KALRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000291478 GT:AD:DP:GQ:PL 0/1:26,17:43:99:439,0,778
3 124415222 rs333280 C A 144.02 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=0.361;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.361;QD=16.0;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KALRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000291478 GT:AD:DP:GQ:PL 0/1:4,5:9:95.78:174,0,96
3 124435888 rs332506 T C 53.64 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.82;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KALRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000291478 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:85,6,0
3 124436345 rs702041 G A 68.26 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.55;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=53.03;MQ0=0;MQRankSum=0.0;QD=9.75;ReadPosRankSum=-0.937;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KALRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000291478 GT:AD:DP:GQ:PL 0/1:3,4:7:98.25:98,0,106
3 124436362 rs35793557 T A 65.09 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.21;MQ0=0;MQRankSum=0.358;QD=13.02;ReadPosRankSum=-0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KALRN;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000291478 GT:AD:DP:GQ:PL 0/1:2,3:5:68.42:95,0,68
3 124449209 rs2279198 A G 177.46 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.201;DB;DP=14;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=47.12;MQ0=0;MQRankSum=0.91;QD=12.68;ReadPosRankSum=0.068;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UMPS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000232607 GT:AD:DP:GQ:PL 0/1:7,7:14:99:207,0,214
3 124449291 rs1139538 A G 225.33 PASS AB=0.594;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.417;DB;DP=32;Dels=0.0;FS=1.824;HRun=0;HaplotypeScore=0.0;MQ=51.49;MQ0=0;MQRankSum=1.252;QD=7.04;ReadPosRankSum=1.133;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UMPS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000413078 GT:AD:DP:GQ:PL 0/1:19,13:32:99:255,0,521
3 124454174 rs3772804 A G 42.74 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=14.25;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UMPS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000232607 GT:AD:DP:GQ:PL 0/1:1,2:3:32.73:73,0,33
3 124458816 rs694897 C G 349.14 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.606;DB;DP=24;Dels=0.0;FS=2.291;HRun=1;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=0.375;QD=14.55;ReadPosRankSum=0.144;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UMPS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000498715 GT:AD:DP:GQ:PL 0/1:12,12:24:99:379,0,391
3 124460895 rs11339821 CT C 63.42 QDFilter2 AB=0.822;AC=1;AF=0.50;AN=2;BaseQRankSum=1.495;DB;DP=60;FS=0.0;HRun=16;HaplotypeScore=456.9735;IndelType=D;MQ=51.09;MQ0=0;MQRankSum=-0.384;QD=1.06;ReadPosRankSum=-2.444;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UMPS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000498715 GT:AD:DP:GQ:PL 0/1:45,13:60:99:102,0,709
3 124462710 rs3772807 G C 313.74 PASS AB=0.536;AC=1;AF=0.50;AN=2;BaseQRankSum=0.276;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=59.17;MQ0=0;MQRankSum=-0.322;QD=11.2;ReadPosRankSum=0.875;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UMPS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000487622 GT:AD:DP:GQ:PL 0/1:15,13:28:99:344,0,486
3 124567365 rs146962770 C T 620.81 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=3.765;DB;DP=52;Dels=0.0;FS=1.448;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.179;QD=11.94;ReadPosRankSum=1.368;SNPEFF_AMINO_ACID_CHANGE=E134;SNPEFF_CODON_CHANGE=gaG/gaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_124567156_124567405;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ITGB5;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000296181 GT:AD:DP:GQ:PL 0/1:28,24:52:99:651,0,863
3 124627024 rs1127233 T G 327.78 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=0.499;DB;DP=42;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.6862;MQ=58.89;MQ0=0;MQRankSum=-0.341;QD=7.8;ReadPosRankSum=1.05;SNPEFF_AMINO_ACID_CHANGE=R502S;SNPEFF_CODON_CHANGE=agA/agC;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_124626994_124627195;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MUC13;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000311075 GT:AD:DP:GQ:PL 0/1:27,15:42:99:358,0,823
3 124629222 rs142652695 TA T 398.57 PASS AB=0.682;AC=1;AF=0.50;AN=2;BaseQRankSum=2.789;DB;DP=58;FS=1.227;HRun=12;HaplotypeScore=178.2721;IndelType=D;MQ=60.26;MQ0=0;MQRankSum=0.503;QD=6.87;ReadPosRankSum=-0.903;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MUC13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462728 GT:AD:DP:GQ:PL 0/1:30,26:58:99:438,0,727
3 124632127 rs2270780 A G 375.51 PASS AB=0.435;AC=1;AF=0.50;AN=2;BaseQRankSum=0.713;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.19;MQ0=0;MQRankSum=2.388;QD=16.33;ReadPosRankSum=-1.457;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MUC13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478191 GT:AD:DP:GQ:PL 0/1:10,13:23:99:406,0,343
3 124646705 rs10630030 A AAAG 6619.94 PASS AC=2;AF=1.00;AN=2;DB;DP=104;FS=0.0;HRun=0;HaplotypeScore=286.935;IndelType=I;MQ=54.34;MQ0=0;QD=63.65;SNPEFF_AMINO_ACID_CHANGE=-62L;SNPEFF_CODON_CHANGE=-/CTT;SNPEFF_EFFECT=CODON_INSERTION;SNPEFF_EXON_ID=exon_3_124646379_124646837;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MUC13;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000311075 GT:AD:DP:GQ:PL 1/1:10,92:104:99:6620,298,0
3 124653710 rs10934701 A G 173.25 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.65;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MUC13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000497378 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:206,15,0
3 124689355 . C T 106.67 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.731;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.731;QD=21.33;ReadPosRankSum=0.731;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEG1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000482699 GT:AD:DP:GQ:PL 0/1:1,4:5:26.19:137,0,26
3 124692689 rs2270778 C T 1770.45 PASS AB=0.523;AC=1;AF=0.50;AN=2;BaseQRankSum=4.672;DB;DP=128;Dels=0.0;FS=2.36;HRun=0;HaplotypeScore=1.4105;MQ=60.0;MQ0=0;MQRankSum=0.605;QD=13.83;ReadPosRankSum=-0.22;SNPEFF_AMINO_ACID_CHANGE=P1294;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_124692575_124692749;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEG1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000311127 GT:AD:DP:GQ:PL 0/1:67,61:128:99:1800,0,1858
3 124692785 rs2270779 C T 646.34 PASS AB=0.58;AC=1;AF=0.50;AN=2;BaseQRankSum=3.656;DB;DP=50;Dels=0.0;FS=11.827;HRun=0;HaplotypeScore=0.0;MQ=59.54;MQ0=0;MQRankSum=0.826;QD=12.93;ReadPosRankSum=2.496;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEG1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000311127 GT:AD:DP:GQ:PL 0/1:29,21:50:99:676,0,758
3 124728394 rs6438867 T C 254.85 PASS AB=0.273;AC=1;AF=0.50;AN=2;BaseQRankSum=0.382;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.106;QD=23.17;ReadPosRankSum=0.715;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEG1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477536 GT:AD:DP:GQ:PL 0/1:3,8:11:90.53:285,0,91
3 124728472 rs6438868 C G 854.25 PASS AB=0.404;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.919;DB;DP=47;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.51;MQ0=0;MQRankSum=0.335;QD=18.18;ReadPosRankSum=-0.669;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEG1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477536 GT:AD:DP:GQ:PL 0/1:19,28:47:99:884,0,670
3 124728626 rs6438869 A G 1136.95 PASS AB=0.581;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.463;DB;DP=93;Dels=0.0;FS=5.663;HRun=0;HaplotypeScore=0.8941;MQ=59.35;MQ0=0;MQRankSum=-1.646;QD=12.23;ReadPosRankSum=0.97;SNPEFF_AMINO_ACID_CHANGE=M1039T;SNPEFF_CODON_CHANGE=aTg/aCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_124728549_124728668;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEG1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000311127 GT:AD:DP:GQ:PL 0/1:54,39:93:99:1167,0,1622
3 124729193 rs6784454 T G 209.17 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=1.093;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=0.101;QD=16.09;ReadPosRankSum=0.555;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEG1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477536 GT:AD:DP:GQ:PL 0/1:6,7:13:99:239,0,198
3 124731485 rs10804567 C G 989.24 PASS AB=0.409;AC=1;AF=0.50;AN=2;BaseQRankSum=0.516;DB;DP=66;Dels=0.0;FS=11.48;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.225;QD=14.99;ReadPosRankSum=-0.716;SNPEFF_AMINO_ACID_CHANGE=V980L;SNPEFF_CODON_CHANGE=Gtg/Ctg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_124731467_124732834;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEG1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000311127 GT:AD:DP:GQ:PL 0/1:27,39:66:99:1019,0,836
3 124732618 rs6790837 A G 1412.84 PASS AB=0.393;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.55;DB;DP=84;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.73;MQ0=0;MQRankSum=-1.09;QD=16.82;ReadPosRankSum=0.714;SNPEFF_AMINO_ACID_CHANGE=F602S;SNPEFF_CODON_CHANGE=tTt/tCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_124731467_124732834;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEG1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000311127 GT:AD:DP:GQ:PL 0/1:33,51:84:99:1443,0,1101
3 124732842 rs6438871 C A 957.04 PASS AB=0.46;AC=1;AF=0.50;AN=2;BaseQRankSum=5.73;DB;DP=63;Dels=0.0;FS=3.541;HRun=3;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=-0.103;QD=15.19;ReadPosRankSum=1.151;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEG1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000311127 GT:AD:DP:GQ:PL 0/1:29,34:63:99:987,0,752
3 124732976 rs6438872 G T 138.79 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.198;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.62;MQ0=0;MQRankSum=0.922;QD=19.83;ReadPosRankSum=1.495;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEG1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000311127 GT:AD:DP:GQ:PL 0/1:2,5:7:54.61:169,0,55
3 124738107 rs59232004 C T 818.95 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.011;DB;DP=65;Dels=0.0;FS=3.115;HRun=1;HaplotypeScore=0.0;MQ=59.65;MQ0=0;MQRankSum=-0.634;QD=12.6;ReadPosRankSum=0.512;SNPEFF_AMINO_ACID_CHANGE=S529;SNPEFF_CODON_CHANGE=tcG/tcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_124738106_124738441;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEG1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000311127 GT:AD:DP:GQ:PL 0/1:35,30:65:99:849,0,1074
3 124739892 rs6438874 G A 568.49 PASS AB=0.387;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.547;DB;DP=31;Dels=0.0;FS=3.784;HRun=0;HaplotypeScore=4.6849;MQ=59.28;MQ0=0;MQRankSum=0.223;QD=17.77;ReadPosRankSum=0.75;SNPEFF_AMINO_ACID_CHANGE=A332;SNPEFF_CODON_CHANGE=gcC/gcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_124739636_124739974;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEG1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000311127 GT:AD:DP:GQ:PL 0/1:12,19:31:99:598,0,366
3 124746049 rs2981546 A G 150.36 PASS AB=0.647;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.161;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.452;QD=8.84;ReadPosRankSum=0.955;SNPEFF_AMINO_ACID_CHANGE=S305P;SNPEFF_CODON_CHANGE=Tct/Cct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_124746049_124746351;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEG1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000311127 GT:AD:DP:GQ:PL 0/1:11,6:17:99:180,0,362
3 124746182 rs2333041 C A 1007.98 PASS AB=0.485;AC=1;AF=0.50;AN=2;BaseQRankSum=3.443;DB;DP=68;Dels=0.0;FS=5.499;HRun=1;HaplotypeScore=1.2434;MQ=59.66;MQ0=0;MQRankSum=1.198;QD=14.82;ReadPosRankSum=0.47;SNPEFF_AMINO_ACID_CHANGE=P260;SNPEFF_CODON_CHANGE=ccG/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_124746049_124746351;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEG1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000311127 GT:AD:DP:GQ:PL 0/1:33,35:68:99:1038,0,864
3 124746296 rs79038354 G A 936.08 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=2.133;DB;DP=91;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.75;MQ0=0;MQRankSum=0.534;QD=10.29;ReadPosRankSum=-0.485;SNPEFF_AMINO_ACID_CHANGE=A222;SNPEFF_CODON_CHANGE=gcC/gcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_124746049_124746351;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEG1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000311127 GT:AD:DP:GQ:PL 0/1:56,35:91:99:966,0,1669
3 124746347 rs4404487 T C 1027.44 PASS AB=0.359;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.568;DB;DP=64;Dels=0.0;FS=3.565;HRun=1;HaplotypeScore=0.9999;MQ=59.64;MQ0=0;MQRankSum=0.42;QD=16.05;ReadPosRankSum=0.168;SNPEFF_AMINO_ACID_CHANGE=S205;SNPEFF_CODON_CHANGE=tcA/tcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_124746049_124746351;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEG1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000311127 GT:AD:DP:GQ:PL 0/1:23,41:64:99:1057,0,762
3 124748226 rs2860440 G A 1242.09 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=4.378;DB;DP=108;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.573;QD=11.5;ReadPosRankSum=-0.016;SNPEFF_AMINO_ACID_CHANGE=G141;SNPEFF_CODON_CHANGE=ggC/ggT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_124748039_124748332;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HEG1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000311127 GT:AD:DP:GQ:PL 0/1:63,45:108:99:1272,0,1964
3 124802677 rs1574340 A G 242.93 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=54.65;MQ0=0;QD=26.99;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC12A8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000314584 GT:AD:DP:GQ:PL 1/1:0,9:9:21.07:276,21,0
3 124802881 rs2981483 A G 456.67 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=57.34;MQ0=0;QD=28.54;SNPEFF_AMINO_ACID_CHANGE=P327;SNPEFF_CODON_CHANGE=ccT/ccC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_124802734_124802893;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC12A8;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000314584 GT:AD:DP:GQ:PL 1/1:0,16:16:39.12:490,39,0
3 124802888 rs2981482 C T 440.23 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.71;MQ0=0;QD=33.86;SNPEFF_AMINO_ACID_CHANGE=R325Q;SNPEFF_CODON_CHANGE=cGg/cAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_124802734_124802893;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC12A8;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000314584 GT:AD:DP:GQ:PL 1/1:0,13:13:36.11:473,36,0
3 124837684 rs621383 T C 749.28 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.28;MQ0=0;QD=28.82;SNPEFF_AMINO_ACID_CHANGE=I163V;SNPEFF_CODON_CHANGE=Atc/Gtc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_124837613_124837700;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC12A8;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000479826 GT:AD:DP:GQ:PL 1/1:0,26:26:60.19:782,60,0
3 124839470 rs863642 G A 393.68 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.25;MQ0=0;QD=24.6;SNPEFF_AMINO_ACID_CHANGE=P148L;SNPEFF_CODON_CHANGE=cCg/cTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_124839443_124839530;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC12A8;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000479826 GT:AD:DP:GQ:PL 1/1:0,16:16:33.08:427,33,0
3 124854425 rs702048 T C 568.41 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.89;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC12A8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000314584 GT:AD:DP:GQ:PL 1/1:0,15:15:45.15:601,45,0
3 124896861 rs545103 C G 289.62 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.18;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC12A8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000314584 GT:AD:DP:GQ:PL 1/1:0,9:9:24.08:323,24,0
3 124951171 rs112084805 CT C 83.91 PASS AB=0.672;AC=1;AF=0.50;AN=2;BaseQRankSum=2.147;DB;DP=41;FS=0.0;HRun=15;HaplotypeScore=234.2322;IndelType=D;MQ=52.41;MQ0=0;MQRankSum=-0.814;QD=2.05;ReadPosRankSum=-0.617;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF148;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000496732 GT:AD:DP:GQ:PL 0/1:21,10:41:99:123,0,217
3 124951821 rs1053738 C T 820.54 PASS AB=0.55;AC=1;AF=0.50;AN=2;BaseQRankSum=3.239;DB;DP=60;Dels=0.0;FS=2.191;HRun=0;HaplotypeScore=0.0;MQ=59.62;MQ0=0;MQRankSum=-0.713;QD=13.68;ReadPosRankSum=2.095;SNPEFF_AMINO_ACID_CHANGE=P583;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_124944405_124952783;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF148;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000360647 GT:AD:DP:GQ:PL 0/1:33,27:60:99:851,0,990
3 124953320 rs7619480 A T 312.33 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.418;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.824;QD=14.2;ReadPosRankSum=-0.495;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC12A8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000423114 GT:AD:DP:GQ:PL 0/1:10,12:22:99:342,0,355
3 124998098 rs10665336 C CAAA 481.56 PASS AB=0.725;AC=1;AF=0.50;AN=2;BaseQRankSum=0.268;DB;DP=29;FS=2.447;HRun=11;HaplotypeScore=133.8694;IndelType=I;MQ=55.22;MQ0=0;MQRankSum=-1.391;QD=16.61;ReadPosRankSum=-2.464;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF148;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360647 GT:AD:DP:GQ:PL 0/1:15,10:29:99:521,0,384
3 125272968 rs184242634 C A 195.55 PASS AB=0.633;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.904;DB;DP=30;Dels=0.0;FS=3.541;HRun=2;HaplotypeScore=0.0;MQ=59.23;MQ0=0;MQRankSum=0.043;QD=6.52;ReadPosRankSum=0.473;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OSBPL11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296220 GT:AD:DP:GQ:PL 0/1:19,11:30:99:226,0,614
3 125431244 rs2976761 G A 1854.04 PASS AB=0.457;AC=1;AF=0.50;AN=2;BaseQRankSum=3.183;DB;DP=151;Dels=0.0;FS=0.653;HRun=0;HaplotypeScore=3.4902;MQ=47.23;MQ0=0;MQRankSum=-7.952;QD=12.28;ReadPosRankSum=1.044;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=GS1-388B5.4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463158 GT:AD:DP:GQ:PL 0/1:69,82:151:99:1884,0,1954
3 125431510 rs2947714 T C 89.39 PASS AB=0.529;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.27;DB;DP=17;Dels=0.0;FS=4.472;HRun=1;HaplotypeScore=0.0;MQ=44.26;MQ0=1;MQRankSum=-3.387;QD=5.26;ReadPosRankSum=-1.059;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=GS1-388B5.4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463158 GT:AD:DP:GQ:PL 0/1:9,8:17:99:119,0,331
3 125443132 rs2976784 C T 30.33 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=0.361;DB;DP=9;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=40.41;MQ0=0;MQRankSum=-1.881;QD=3.37;ReadPosRankSum=-0.361;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=GS1-388B5.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000508347 GT:AD:DP:GQ:PL 0/1:5,4:9:60.32:60,0,176
3 125443454 rs9289258 A G 255.94 PASS AB=0.661;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.852;DB;DP=62;Dels=0.0;FS=19.659;HRun=1;HaplotypeScore=0.0;MQ=41.24;MQ0=5;MQRankSum=-4.67;QD=4.13;ReadPosRankSum=-0.39;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=GS1-388B5.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000508347 GT:AD:DP:GQ:PL 0/1:41,21:62:99:286,0,1139
3 125443512 rs9289259 T C 862.26 PASS AB=0.55;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.541;DB;DP=81;Dels=0.0;FS=1.98;HRun=1;HaplotypeScore=0.9996;MQ=48.6;MQ0=3;MQRankSum=-3.048;QD=10.65;ReadPosRankSum=0.884;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=GS1-388B5.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000508347 GT:AD:DP:GQ:PL 0/1:44,36:81:99:892,0,1442
3 125453151 rs2971276 A C 55.21 PASS AB=0.706;AC=1;AF=0.50;AN=2;BaseQRankSum=1.528;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=53.23;MQ0=0;MQRankSum=-2.688;QD=3.25;ReadPosRankSum=-1.212;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=GS1-388B5.6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418098 GT:AD:DP:GQ:PL 0/1:12,5:17:85.20:85,0,397
3 125466360 rs2684964 A G 638.04 PASS AB=0.648;AC=1;AF=0.50;AN=2;BaseQRankSum=2.337;DB;DP=123;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=44.59;MQ0=10;MQRankSum=-7.699;QD=5.19;ReadPosRankSum=-0.684;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=GS1-388B5.7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466578 GT:AD:DP:GQ:PL 0/1:79,43:123:99:668,0,2318
3 125509445 . A G 2241.73 MQFilter40 AB=0.564;AC=1;AF=0.50;AN=2;BaseQRankSum=1.064;DP=241;DS;Dels=0.0;FS=3.369;HRun=2;HaplotypeScore=3.6219;MQ=32.64;MQ0=7;MQRankSum=0.567;QD=9.3;ReadPosRankSum=-1.175;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=MIR548I1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408810 GT:AD:DP:GQ:PL 0/1:136,105:241:99:2272,0,3080
3 125551290 rs2979943 G A 583.66 PASS AB=0.542;AC=1;AF=0.50;AN=2;BaseQRankSum=3.102;DB;DP=48;Dels=0.0;FS=1.223;HRun=0;HaplotypeScore=0.0;MQ=56.2;MQ0=0;MQRankSum=-0.139;QD=12.16;ReadPosRankSum=0.16;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AC092902.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408754 GT:AD:DP:GQ:PL 0/1:26,22:48:99:614,0,778
3 125551355 rs2979944 G A 516.58 PASS AB=0.524;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.675;DB;DP=42;Dels=0.0;FS=16.566;HRun=0;HaplotypeScore=0.0;MQ=55.93;MQ0=0;MQRankSum=-2.053;QD=12.3;ReadPosRankSum=0.718;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AC092902.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408754 GT:AD:DP:GQ:PL 0/1:22,20:42:99:547,0,648
3 125551372 rs2947696 A G 422.94 PASS AB=0.575;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.528;DB;DP=40;Dels=0.0;FS=12.519;HRun=2;HaplotypeScore=0.9993;MQ=54.47;MQ0=0;MQRankSum=-1.87;QD=10.57;ReadPosRankSum=0.014;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AC092902.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408754 GT:AD:DP:GQ:PL 0/1:23,17:40:99:453,0,705
3 125551385 rs2947697 C G 246.02 PASS AB=0.639;AC=1;AF=0.50;AN=2;BaseQRankSum=0.597;DB;DP=36;Dels=0.0;FS=12.366;HRun=2;HaplotypeScore=0.0;MQ=53.82;MQ0=0;MQRankSum=-2.953;QD=6.83;ReadPosRankSum=-1.075;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AC092902.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408754 GT:AD:DP:GQ:PL 0/1:23,13:36:99:276,0,543
3 125635515 rs9840826 C G 121.94 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.517;DB;DP=8;Dels=0.0;FS=3.332;HRun=1;HaplotypeScore=0.0;MQ=53.95;MQ0=0;MQRankSum=-0.684;QD=15.24;ReadPosRankSum=0.684;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RP11-666A20.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467239 GT:AD:DP:GQ:PL 0/1:3,5:8:64.36:152,0,64
3 125637753 rs59319586 G A 1058.96 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=2.304;DB;DP=70;Dels=0.0;FS=2.045;HRun=0;HaplotypeScore=0.9578;MQ=58.08;MQ0=0;MQRankSum=0.276;QD=15.13;ReadPosRankSum=1.333;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RP11-666A20.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467239 GT:AD:DP:GQ:PL 0/1:33,37:70:99:1089,0,908
3 125643933 rs73858994 A G 1396.35 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.289;DB;DP=104;Dels=0.0;FS=7.119;HRun=0;HaplotypeScore=0.9933;MQ=56.29;MQ0=0;MQRankSum=-1.233;QD=13.43;ReadPosRankSum=0.031;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALG1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340333 GT:AD:DP:GQ:PL 0/1:52,52:104:99:1426,0,1437
3 125643940 rs143065094 C G 1377.98 PASS AB=0.505;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.219;DB;DP=99;Dels=0.0;FS=9.447;HRun=1;HaplotypeScore=0.0;MQ=56.3;MQ0=0;MQRankSum=-1.399;QD=13.92;ReadPosRankSum=0.318;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALG1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340333 GT:AD:DP:GQ:PL 0/1:50,49:99:99:1408,0,1421
3 125648356 rs3828357 T C 732.04 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.25;MQ0=0;QD=30.5;SNPEFF_AMINO_ACID_CHANGE=N135D;SNPEFF_CODON_CHANGE=Aac/Gac;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_125648118_125648410;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALG1L;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000340333 GT:AD:DP:GQ:PL 1/1:0,24:24:60.18:765,60,0
3 125648529 rs9289274 T C 114.92 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=33.31;MQ0=1;QD=19.15;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALG1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340333 GT:AD:DP:GQ:PL 1/1:0,6:6:12.04:147,12,0
3 125649194 rs138126565 G A 34.39 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.19;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALG1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340333 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:66,6,0
3 125649294 rs7627571 T C 225.58 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=49.18;MQ0=0;QD=28.2;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALG1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340333 GT:AD:DP:GQ:PL 1/1:0,8:8:21.06:259,21,0
3 125649621 rs7618335 C T 75.64 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=37.0;MQ0=0;QD=18.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALG1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340333 GT:AD:DP:GQ:PL 1/1:0,4:4:9.02:108,9,0
3 125650752 rs11711638 T C 136.72 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=46.52;MQ0=0;QD=27.34;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALG1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340333 GT:AD:DP:GQ:PL 1/1:0,5:5:15.01:169,15,0
3 125651317 rs13073802 C T 31.97 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=53.33;MQ0=0;MQRankSum=0.72;QD=5.33;ReadPosRankSum=0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALG1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340333 GT:AD:DP:GQ:PL 0/1:4,2:6:61.96:62,0,113
3 125651602 rs34411283 C CT 165.24 PASS AB=0.719;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.511;DB;DP=23;FS=6.767;HRun=11;HaplotypeScore=79.7907;IndelType=I;MQ=56.39;MQ0=0;MQRankSum=-0.286;QD=7.18;ReadPosRankSum=0.041;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALG1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340333 GT:AD:DP:GQ:PL 0/1:14,9:23:99:204,0,153
3 125696088 rs145646784 G A 387.55 MQFilter40 AB=0.551;AC=1;AF=0.50;AN=2;BaseQRankSum=0.542;DB;DP=78;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=14.91;MQ0=44;MQRankSum=0.297;QD=4.97;ReadPosRankSum=-1.172;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ROPN1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000504401 GT:AD:DP:GQ:PL 0/1:43,35:78:99:418,0,267
3 125701099 rs2270986 T C 822.48 PASS AB=0.359;AC=1;AF=0.50;AN=2;BaseQRankSum=0.073;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9832;MQ=59.52;MQ0=0;MQRankSum=-1.625;QD=21.09;ReadPosRankSum=-1.508;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ROPN1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000510450 GT:AD:DP:GQ:PL 0/1:14,25:39:99:852,0,396
3 125701948 rs12496921 C G 94.12 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.881;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.159;QD=9.41;ReadPosRankSum=-1.652;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ROPN1B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000251776 GT:AD:DP:GQ:PL 0/1:4,6:10:99:124,0,142
3 125725268 rs111477552 TAACA T 789.53 PASS AB=0.673;AC=1;AF=0.50;AN=2;BaseQRankSum=3.08;DB;DP=35;FS=0.0;HRun=0;HaplotypeScore=177.3527;IndelType=D;MQ=58.0;MQ0=0;MQRankSum=-0.198;QD=22.56;ReadPosRankSum=0.81;SNPEFF_EFFECT=FRAME_SHIFT;SNPEFF_EXON_ID=exon_3_125725216_125725407;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC41A3;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000315891 GT:AD:DP:GQ:PL 0/1:18,17:35:99:829,0,1149
3 125725559 rs1044215 C G 39.17 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=19.58;SNPEFF_EFFECT=SPLICE_SITE_DONOR;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC41A3;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000504118 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:70,6,0
3 125726048 rs2279819 G C 679.09 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.78;MQ0=0;QD=35.74;SNPEFF_AMINO_ACID_CHANGE=L308;SNPEFF_CODON_CHANGE=ctC/ctG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_125725699_125726068;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC41A3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000508835 GT:AD:DP:GQ:PL 1/1:0,19:19:54.17:712,54,0
3 125731161 rs1566715 C T 50.63 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.32;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC41A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000507008 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
3 125734272 rs2279820 G A 158.23 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=2.649;DB;DP=27;Dels=0.0;FS=9.89;HRun=0;HaplotypeScore=0.734;MQ=59.14;MQ0=0;MQRankSum=0.026;QD=5.86;ReadPosRankSum=-1.826;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC41A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000507008 GT:AD:DP:GQ:PL 0/1:18,9:27:99:188,0,540
3 125734308 rs2279821 G A 603.48 PASS AB=0.371;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.685;DB;DP=35;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.5784;MQ=58.67;MQ0=0;MQRankSum=1.351;QD=17.24;ReadPosRankSum=-0.09;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC41A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000507008 GT:AD:DP:GQ:PL 0/1:13,22:35:99:633,0,363
3 125734465 rs9862310 G A 334.62 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.824;DB;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.165;QD=15.21;ReadPosRankSum=-2.011;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC41A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000507008 GT:AD:DP:GQ:PL 0/1:10,12:22:99:365,0,304
3 125741465 rs12486459 T G 116.58 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.495;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.198;QD=16.65;ReadPosRankSum=1.495;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC41A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000510651 GT:AD:DP:GQ:PL 0/1:2,5:7:62.23:147,0,62
3 125741592 rs3817079 C T 1442.60 PASS AB=0.408;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.033;DB;DP=76;Dels=0.0;FS=2.89;HRun=0;HaplotypeScore=1.8288;MQ=60.0;MQ0=0;MQRankSum=0.381;QD=18.98;ReadPosRankSum=0.803;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC41A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000510651 GT:AD:DP:GQ:PL 0/1:31,45:76:99:1473,0,1008
3 125741901 rs2270984 A G 288.81 PASS AB=0.524;AC=1;AF=0.50;AN=2;BaseQRankSum=0.176;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.866;QD=13.75;ReadPosRankSum=-0.528;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC41A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000510651 GT:AD:DP:GQ:PL 0/1:11,10:21:99:319,0,382
3 125741925 rs2270983 T G 175.14 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=0.323;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.226;QD=12.51;ReadPosRankSum=-0.968;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC41A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000510651 GT:AD:DP:GQ:PL 0/1:8,6:14:99:205,0,290
3 125775061 rs78137633 C T 103.18 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.922;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.922;QD=12.9;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC41A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315891 GT:AD:DP:GQ:PL 0/1:4,4:8:99:133,0,137
3 125775228 rs7613944 T C 1135.37 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.4942;MQ=59.5;MQ0=0;QD=30.69;SNPEFF_AMINO_ACID_CHANGE=T134;SNPEFF_CODON_CHANGE=acA/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_125775201_125775356;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC41A3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000513723 GT:AD:DP:GQ:PL 1/1:0,37:37:93.26:1168,93,0
3 125786662 rs36125006 G GA 140.49 PASS AB=0.682;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.298;DB;DP=15;FS=3.31;HRun=10;HaplotypeScore=73.2354;IndelType=I;MQ=59.91;MQ0=0;MQRankSum=-0.174;QD=9.37;ReadPosRankSum=-0.058;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC41A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000509452 GT:AD:DP:GQ:PL 0/1:7,7:15:99:180,0,134
3 125786695 rs4308225 G A 402.08 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=2.906;DB;DP=27;Dels=0.0;FS=3.802;HRun=1;HaplotypeScore=0.7887;MQ=58.68;MQ0=0;MQRankSum=-0.231;QD=14.89;ReadPosRankSum=0.489;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC41A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000509452 GT:AD:DP:GQ:PL 0/1:12,14:27:99:432,0,275
3 125786760 rs4308226 G A 1065.25 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=4.89;DB;DP=66;Dels=0.0;FS=1.308;HRun=0;HaplotypeScore=1.7552;MQ=59.3;MQ0=0;MQRankSum=1.487;QD=16.14;ReadPosRankSum=0.437;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC41A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000509452 GT:AD:DP:GQ:PL 0/1:30,35:66:99:1095,0,836
3 125786879 rs4234270 T C 2404.59 PASS AC=2;AF=1.00;AN=2;DB;DP=78;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=59.41;MQ0=0;QD=30.83;SNPEFF_AMINO_ACID_CHANGE=T62A;SNPEFF_CODON_CHANGE=Acc/Gcc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_125786790_125787089;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC41A3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000315891 GT:AD:DP:GQ:PL 1/1:0,78:78:99:2438,205,0
3 125787126 rs6438966 C T 70.02 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=0.361;DB;DP=9;Dels=0.0;FS=3.522;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.307;QD=7.78;ReadPosRankSum=-1.159;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC41A3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000315891 GT:AD:DP:GQ:PL 0/1:5,4:9:99:100,0,184
3 125824382 rs10934744 C A 39.61 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.727;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.21;MQ0=0;MQRankSum=0.727;QD=7.92;ReadPosRankSum=0.727;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALDH1L1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462808 GT:AD:DP:GQ:PL 0/1:2,3:5:33.20:70,0,33
3 125824899 rs4646754 G A 51.24 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.55;DB;DP=7;Dels=0.0;FS=3.68;HRun=0;HaplotypeScore=0.7887;MQ=56.62;MQ0=0;MQRankSum=-0.55;QD=7.32;ReadPosRankSum=-1.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALDH1L1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273450 GT:AD:DP:GQ:PL 0/1:4,3:7:81.23:81,0,98
3 125826059 rs1127717 T C 875.70 PASS AB=0.557;AC=1;AF=0.50;AN=2;BaseQRankSum=2.928;DB;DP=80;Dels=0.0;FS=11.906;HRun=1;HaplotypeScore=0.9989;MQ=59.71;MQ0=0;MQRankSum=0.561;QD=10.95;ReadPosRankSum=1.426;SNPEFF_AMINO_ACID_CHANGE=D692G;SNPEFF_CODON_CHANGE=gAc/gGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_125825984_125826089;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALDH1L1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000452905 GT:AD:DP:GQ:PL 0/1:44,35:80:99:906,0,1333
3 125826213 rs2276730 C T 81.10 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=20.27;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALDH1L1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273450 GT:AD:DP:GQ:PL 0/1:1,3:4:20.46:111,0,20
3 125833260 rs2290053 C T 95.42 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.421;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.421;QD=11.93;ReadPosRankSum=-0.421;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALDH1L1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273450 GT:AD:DP:GQ:PL 0/1:4,4:8:99:125,0,101
3 125843400 rs3217578 A AG 412.94 PASS AB=0.581;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.401;DB;DP=18;FS=0.0;HRun=3;HaplotypeScore=107.7526;IndelType=I;MQ=57.39;MQ0=0;MQRankSum=-0.467;QD=22.94;ReadPosRankSum=-1.401;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALDH1L1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000476245 GT:AD:DP:GQ:PL 0/1:5,13:18:74.80:452,0,75
3 125849238 rs2002287 G A 159.47 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.572;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9992;MQ=60.0;MQ0=0;MQRankSum=-0.572;QD=19.93;ReadPosRankSum=-0.572;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALDH1L1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473607 GT:AD:DP:GQ:PL 0/1:2,6:8:24.17:189,0,24
3 125850101 rs4646733 C T 432.89 PASS AB=0.486;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.693;DB;DP=37;Dels=0.0;FS=3.274;HRun=1;HaplotypeScore=0.9992;MQ=58.74;MQ0=0;MQRankSum=0.111;QD=11.7;ReadPosRankSum=1.503;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALDH1L1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473607 GT:AD:DP:GQ:PL 0/1:18,19:37:99:463,0,506
3 125850102 rs4646732 A G 439.71 PASS AB=0.486;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.49;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9992;MQ=58.74;MQ0=0;MQRankSum=-0.649;QD=11.88;ReadPosRankSum=1.566;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALDH1L1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473607 GT:AD:DP:GQ:PL 0/1:18,19:37:99:470,0,571
3 125850169 rs3821451 T C 1170.59 PASS AB=0.511;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.177;DB;DP=90;Dels=0.0;FS=1.963;HRun=2;HaplotypeScore=3.5217;MQ=58.71;MQ0=0;MQRankSum=-0.341;QD=13.01;ReadPosRankSum=-0.094;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALDH1L1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473607 GT:AD:DP:GQ:PL 0/1:46,44:90:99:1201,0,1474
3 125850193 rs3816366 A G 1221.66 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.576;DB;DP=120;Dels=0.0;FS=15.158;HRun=0;HaplotypeScore=7.5111;MQ=58.89;MQ0=0;MQRankSum=-0.564;QD=10.1;ReadPosRankSum=0.849;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALDH1L1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473607 GT:AD:DP:GQ:PL 0/1:64,55:120:99:1252,0,1922
3 125850381 rs2305228 A G 382.91 PASS AB=0.552;AC=1;AF=0.50;AN=2;BaseQRankSum=2.669;DB;DP=29;Dels=0.0;FS=6.232;HRun=1;HaplotypeScore=0.9159;MQ=59.2;MQ0=0;MQRankSum=-0.627;QD=13.2;ReadPosRankSum=-0.905;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALDH1L1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473607 GT:AD:DP:GQ:PL 0/1:16,13:29:99:413,0,476
3 125850434 rs2305227 C T 175.51 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.191;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9853;MQ=60.0;MQ0=0;MQRankSum=-2.047;QD=14.63;ReadPosRankSum=-0.259;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALDH1L1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473607 GT:AD:DP:GQ:PL 0/1:6,6:12:99:206,0,175
3 125854311 rs3216713 TC T 194.42 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.467;DB;DP=15;FS=0.0;HRun=7;HaplotypeScore=105.8684;IndelType=D;MQ=50.32;MQ0=0;MQRankSum=1.733;QD=12.96;ReadPosRankSum=-0.133;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALDH1L1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273450 GT:AD:DP:GQ:PL 0/1:6,9:15:99:233,0,147
3 125856916 rs6799991 A G 262.18 PASS AB=0.1;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.741;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.348;QD=26.22;ReadPosRankSum=-1.044;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALDH1L1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273450 GT:AD:DP:GQ:PL 0/1:1,9:10:15.92:292,0,16
3 125874388 rs2276731 C T 293 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.66;MQ0=0;QD=29.3;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ALDH1L1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460368 GT:AD:DP:GQ:PL 1/1:0,10:10:27.06:326,27,0
3 126070673 rs62265917 G A 354.16 PASS AB=0.368;AC=1;AF=0.50;AN=2;BaseQRankSum=2.669;DB;DP=19;Dels=0.0;FS=14.236;HRun=0;HaplotypeScore=1.4538;MQ=58.78;MQ0=0;MQRankSum=-1.264;QD=18.64;ReadPosRankSum=0.14;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KLF15;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000509675 GT:AD:DP:GQ:PL 0/1:7,12:19:99:384,0,157
3 126132802 rs77867713 AG A 1740.45 PASS AC=2;AF=1.00;AN=2;DB;DP=53;FS=0.0;HRun=5;HaplotypeScore=143.9277;IndelType=D;MQ=60.13;MQ0=0;QD=32.84;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CCDC37;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000352312 GT:AD:DP:GQ:PL 1/1:0,53:53:99:1782,159,0
3 126133239 rs6775131 C T 162.95 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.59;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CCDC37;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000510833 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:196,15,0
3 126137078 rs7634065 G C 47.20 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.6;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CCDC37;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000510833 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:78,6,0
3 126138778 rs2271630 T C 614.88 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.71;MQ0=0;QD=34.16;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CCDC37;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000503905 GT:AD:DP:GQ:PL 1/1:0,18:18:48.16:648,48,0
3 126142496 rs13064828 T C 707.25 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.2;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=CCDC37;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000503905 GT:AD:DP:GQ:PL 1/1:0,26:26:54.18:740,54,0
3 126151797 rs35133442 T C 278.29 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.79;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ZXDC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389709 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:311,24,0
3 126153361 rs13099144 T C 71.93 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.98;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ZXDC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389709 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:104,9,0
3 126154634 rs3817526 G A 176.95 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.39;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ZXDC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389709 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:210,15,0
3 126160529 rs4679244 A G 382.02 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.9;MQ0=0;QD=22.47;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ZXDC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389709 GT:AD:DP:GQ:PL 1/1:0,17:17:36.09:415,36,0
3 126178390 rs1043803 A C 3184.72 PASS AC=2;AF=1.00;AN=2;DB;DP=92;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.99;MQ0=0;QD=34.62;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ZXDC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336332 GT:AD:DP:GQ:PL 1/1:0,92:92:99:3218,250,0
3 126184941 rs1799389 C T 304.40 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.87;MQ0=0;QD=27.67;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ZXDC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336332 GT:AD:DP:GQ:PL 1/1:0,11:11:27.07:337,27,0
3 126185238 rs1687463 C T 675.46 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.84;MQ0=0;QD=33.77;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ZXDC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336332 GT:AD:DP:GQ:PL 1/1:0,20:20:54.17:708,54,0
3 126189919 rs777499 A G 343.75 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.65;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ZXDC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336332 GT:AD:DP:GQ:PL 1/1:0,12:12:27.09:377,27,0
3 126194076 rs812367 T C 186.26 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.7;SNPEFF_AMINO_ACID_CHANGE=P211;SNPEFF_CODON_CHANGE=ccA/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_126193802_126194708;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ZXDC;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000336332 GT:AD:DP:GQ:PL 1/1:0,9:9:18.05:219,18,0
3 126194357 rs7624748 G C 218.19 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.27;SNPEFF_AMINO_ACID_CHANGE=P118A;SNPEFF_CODON_CHANGE=Ccc/Gcc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_126193802_126194708;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ZXDC;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000336332 GT:AD:DP:GQ:PL 1/1:0,8:8:21.06:251,21,0
3 126207222 rs777483 A G 437.28 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=54.44;MQ0=0;QD=33.64;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UROC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000290868 GT:AD:DP:GQ:PL 1/1:0,13:13:36.11:470,36,0
3 126208249 rs777479 A C 1065.38 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.51;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UROC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000290868 GT:AD:DP:GQ:PL 1/1:0,30:30:87.27:1098,87,0
3 126218167 rs1168595 G A 73.14 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=1.835;DB;DP=15;Dels=0.0;FS=2.808;HRun=0;HaplotypeScore=0.0;MQ=56.85;MQ0=0;MQRankSum=1.239;QD=4.88;ReadPosRankSum=0.289;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UROC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000290868 GT:AD:DP:GQ:PL 0/1:8,6:15:99:103,0,142
3 126219973 rs1177565 T C 4026.46 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.557;DB;DP=120;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.8667;MQ=59.62;MQ0=0;MQRankSum=-0.073;QD=33.55;ReadPosRankSum=-1.295;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UROC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000290868 GT:AD:DP:GQ:PL 1/1:1,119:120:99:4026,276,0
3 126220539 rs9844797 A G 148.71 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.467;DB;DP=12;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.073;QD=12.39;ReadPosRankSum=0.259;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UROC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000290868 GT:AD:DP:GQ:PL 0/1:6,6:12:99:179,0,209
3 126220845 rs7643584 G A 59.34 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.573;DB;DP=9;Dels=0.0;FS=4.771;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.203;QD=6.59;ReadPosRankSum=1.001;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UROC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000290868 GT:AD:DP:GQ:PL 0/1:6,3:9:89.34:89,0,223
3 126220853 rs77943998 C T 77.70 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.537;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=12.95;ReadPosRankSum=-0.406;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UROC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000290868 GT:AD:DP:GQ:PL 0/1:3,3:6:88.58:108,0,89
3 126222856 rs139894266 C T 881.56 PASS AB=0.53;AC=1;AF=0.50;AN=2;BaseQRankSum=0.717;DB;DP=67;Dels=0.0;FS=2.348;HRun=0;HaplotypeScore=2.3548;MQ=58.96;MQ0=0;MQRankSum=1.427;QD=13.16;ReadPosRankSum=-0.347;SNPEFF_AMINO_ACID_CHANGE=R295H;SNPEFF_CODON_CHANGE=cGc/cAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_126222838_126222926;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UROC1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000290868 GT:AD:DP:GQ:PL 0/1:35,31:67:99:912,0,734
3 126223002 rs72626368 A G 368.52 PASS AB=0.278;AC=1;AF=0.50;AN=2;BaseQRankSum=2.793;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.71;MQ0=0;MQRankSum=-1.212;QD=20.47;ReadPosRankSum=-1.107;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UROC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000290868 GT:AD:DP:GQ:PL 0/1:5,13:18:99:399,0,149
3 126223117 rs114520646 G T 48.72 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UROC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000290868 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:80,6,0
3 126226518 rs9784244 C T 2004.71 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=59.62;MQ0=0;QD=33.41;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UROC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000290868 GT:AD:DP:GQ:PL 1/1:1,58:60:99:2038,157,0
3 126227185 rs16837531 G A 73.83 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.55;QD=9.23;ReadPosRankSum=1.754;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UROC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000290868 GT:AD:DP:GQ:PL 0/1:4,4:8:99:104,0,105
3 126236348 rs1687480 T C 302.89 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.29;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UROC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000290868 GT:AD:DP:GQ:PL 1/1:0,10:10:24.08:336,24,0
3 126261345 rs1056522 G A 99.40 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=1.92;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.63;MQ0=0;MQRankSum=-1.92;QD=12.42;ReadPosRankSum=-1.221;SNPEFF_AMINO_ACID_CHANGE=R317Q;SNPEFF_CODON_CHANGE=cGg/cAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_126260576_126262134;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHST13;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000319340 GT:AD:DP:GQ:PL 0/1:3,5:8:84.62:129,0,85
3 126268918 rs869463 G A 59.64 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=1.849;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.43;MQ0=0;MQRankSum=1.109;QD=4.97;ReadPosRankSum=1.294;SNPEFF_AMINO_ACID_CHANGE=L73;SNPEFF_CODON_CHANGE=ctC/ctT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_126268516_126268921;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=C3orf22;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000318225 GT:AD:DP:GQ:PL 0/1:9,3:12:89.64:90,0,312
3 126268953 rs869464 T G 141.36 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.676;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.16;MQ0=0;MQRankSum=-0.47;QD=14.14;ReadPosRankSum=0.47;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=C3orf22;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318225 GT:AD:DP:GQ:PL 0/1:5,5:10:99:171,0,179
3 126270735 rs2291509 G A 293.28 PASS AB=0.267;AC=1;AF=0.50;AN=2;BaseQRankSum=1.371;DB;DP=15;Dels=0.0;FS=2.622;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.326;QD=19.55;ReadPosRankSum=0.065;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=C3orf22;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318225 GT:AD:DP:GQ:PL 0/1:4,11:15:73.13:323,0,73
3 126270757 rs13071443 G T 498.91 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9578;MQ=60.0;MQ0=0;QD=35.64;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=C3orf22;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000318225 GT:AD:DP:GQ:PL 1/1:0,14:14:39.13:532,39,0
3 126329910 rs777241 A G 1282.15 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.95;MQ0=0;QD=27.87;SNPEFF_AMINO_ACID_CHANGE=Y567;SNPEFF_CODON_CHANGE=taT/taC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_126329880_126329975;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=TXNRD3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000523403 GT:AD:DP:GQ:PL 1/1:0,46:46:99:1315,99,0
3 126340553 rs3732534 G A 1126.41 PASS AB=0.493;AC=1;AF=0.50;AN=2;BaseQRankSum=4.106;DB;DP=75;Dels=0.0;FS=3.779;HRun=1;HaplotypeScore=0.9933;MQ=59.69;MQ0=0;MQRankSum=-1.934;QD=15.02;ReadPosRankSum=0.069;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=TXNRD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000523403 GT:AD:DP:GQ:PL 0/1:37,38:75:99:1156,0,1085
3 126349457 rs777224 A G 310.77 PASS AB=0.519;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.858;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.315;QD=11.51;ReadPosRankSum=-1.286;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=TXNRD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000523403 GT:AD:DP:GQ:PL 0/1:14,13:27:99:341,0,466
3 126350531 rs777226 C T 658.18 PASS AB=0.459;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.234;DB;DP=37;Dels=0.0;FS=6.899;HRun=0;HaplotypeScore=0.0;MQ=59.38;MQ0=0;MQRankSum=-0.686;QD=17.79;ReadPosRankSum=0.93;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=TXNRD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000523403 GT:AD:DP:GQ:PL 0/1:17,20:37:99:688,0,550
3 126363438 rs777234 C T 400.82 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.44;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=TXNRD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000523403 GT:AD:DP:GQ:PL 1/1:0,11:11:33.11:434,33,0
3 126365127 rs11453652 C CT 870.09 PASS AC=2;AF=1.00;AN=2;DB;DP=19;FS=0.0;HRun=0;HaplotypeScore=35.3862;IndelType=I;MQ=60.0;MQ0=0;QD=45.79;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=TXNRD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000523403 GT:AD:DP:GQ:PL 1/1:0,19:19:57.19:912,57,0
3 126633419 rs2303994 C G 565.87 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.78;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHCHD6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000290913 GT:AD:DP:GQ:PL 1/1:0,19:19:51.14:599,51,0
3 126682205 rs5852500 C CA 1292.70 PASS AB=0.679;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.259;DB;DP=72;FS=1.193;HRun=0;HaplotypeScore=180.2869;IndelType=I;MQ=60.02;MQ0=0;MQRankSum=1.659;QD=17.95;ReadPosRankSum=0.106;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHCHD6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000290913 GT:AD:DP:GQ:PL 0/1:38,33:72:99:1332,0,1332
3 126682424 rs114542493 T G 49.41 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.7;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CHCHD6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000290913 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
3 126708453 rs6773789 T C 923.54 PASS AB=0.516;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.827;DB;DP=64;Dels=0.0;FS=2.065;HRun=1;HaplotypeScore=0.8667;MQ=59.35;MQ0=0;MQRankSum=0.363;QD=14.43;ReadPosRankSum=-0.027;SNPEFF_AMINO_ACID_CHANGE=T316;SNPEFF_CODON_CHANGE=acT/acC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_126707437_126708630;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXNA1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000251772 GT:AD:DP:GQ:PL 0/1:33,31:64:99:954,0,1040
3 126708459 rs61746811 C T 995.33 PASS AB=0.492;AC=1;AF=0.50;AN=2;BaseQRankSum=2.788;DB;DP=65;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.8401;MQ=59.36;MQ0=0;MQRankSum=0.361;QD=15.31;ReadPosRankSum=-0.256;SNPEFF_AMINO_ACID_CHANGE=F318;SNPEFF_CODON_CHANGE=ttC/ttT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_126707437_126708630;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXNA1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000251772 GT:AD:DP:GQ:PL 0/1:32,33:65:99:1025,0,943
3 126722304 rs41266467 C T 321.31 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=0.817;DB;DP=22;Dels=0.0;FS=1.719;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.32;QD=14.6;ReadPosRankSum=-1.173;SNPEFF_AMINO_ACID_CHANGE=T480;SNPEFF_CODON_CHANGE=acC/acT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_126722173_126722313;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXNA1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000251772 GT:AD:DP:GQ:PL 0/1:10,12:22:99:351,0,254
3 126724881 rs12489348 G C 719.92 PASS AB=0.527;AC=1;AF=0.50;AN=2;BaseQRankSum=0.035;DB;DP=55;Dels=0.0;FS=1.183;HRun=0;HaplotypeScore=0.0;MQ=59.58;MQ0=0;MQRankSum=1.631;QD=13.09;ReadPosRankSum=0.625;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXNA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000251772 GT:AD:DP:GQ:PL 0/1:29,26:55:99:750,0,907
3 126725175 rs78745973 G A 40.96 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.026;QD=10.24;ReadPosRankSum=1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXNA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000251772 GT:AD:DP:GQ:PL 0/1:2,2:4:66.99:71,0,67
3 126732776 . T C 500.68 PASS AB=0.514;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.069;DP=35;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.6828;MQ=59.34;MQ0=0;MQRankSum=0.689;QD=14.31;ReadPosRankSum=0.034;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXNA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000251772 GT:AD:DP:GQ:PL 0/1:18,17:35:99:531,0,556
3 126736821 rs80135946 C T 52.70 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.159;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.729;QD=5.86;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXNA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000251772 GT:AD:DP:GQ:PL 0/1:5,4:9:82.69:83,0,181
3 126737268 rs4679323 C A 324.70 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.196;DB;DP=24;Dels=0.0;FS=4.216;HRun=1;HaplotypeScore=0.8321;MQ=58.05;MQ0=0;MQRankSum=0.966;QD=13.53;ReadPosRankSum=-1.259;SNPEFF_AMINO_ACID_CHANGE=L1241;SNPEFF_CODON_CHANGE=ctC/ctA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_126737137_126737371;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXNA1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000251772 GT:AD:DP:GQ:PL 0/1:10,14:24:99:355,0,304
3 126739012 rs891762 G T 329.09 PASS AB=0.594;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.609;DB;DP=32;Dels=0.0;FS=3.304;HRun=0;HaplotypeScore=0.0;MQ=59.42;MQ0=0;MQRankSum=0.384;QD=10.28;ReadPosRankSum=-0.46;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXNA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000251772 GT:AD:DP:GQ:PL 0/1:19,13:32:99:359,0,609
3 126739291 rs6439030 T C 66.22 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXNA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000251772 GT:AD:DP:GQ:PL 1/1:0,3:3:9.02:98,9,0
3 126741674 rs60819734 G A 841.46 PASS AB=0.473;AC=1;AF=0.50;AN=2;BaseQRankSum=2.654;DB;DP=56;Dels=0.0;FS=13.922;HRun=0;HaplotypeScore=1.8928;MQ=60.0;MQ0=0;MQRankSum=0.538;QD=15.03;ReadPosRankSum=0.243;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXNA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000251772 GT:AD:DP:GQ:PL 0/1:26,29:56:99:871,0,755
3 126741740 rs41266471 T C 201.74 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.601;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9916;MQ=60.0;MQ0=0;MQRankSum=0.439;QD=7.76;ReadPosRankSum=-1.844;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXNA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000251772 GT:AD:DP:GQ:PL 0/1:15,10:26:99:232,0,491
3 126746690 rs9851451 A G 51.92 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.754;DB;DP=7;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.754;QD=7.42;ReadPosRankSum=-1.754;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXNA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000251772 GT:AD:DP:GQ:PL 0/1:4,3:7:81.92:82,0,146
3 126746731 rs9833827 T G 95.39 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.164;DB;DP=15;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=58.75;MQ0=0;MQRankSum=-0.796;QD=6.36;ReadPosRankSum=0.796;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXNA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000251772 GT:AD:DP:GQ:PL 0/1:10,5:15:99:125,0,329
3 126747367 rs9838548 T C 37.76 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=12.59;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXNA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000251772 GT:AD:DP:GQ:PL 0/1:1,2:3:32.20:68,0,32
3 126748151 rs6789728 T C 153.66 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.73;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXNA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000251772 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:186,15,0
3 126751689 rs6439031 G A 940.93 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.57;MQ0=0;QD=32.45;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXNA1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000503363 GT:AD:DP:GQ:PL 1/1:0,29:29:75.24:974,75,0
3 126916371 rs4679347 T C 85.72 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.88;MQ0=0;QD=21.43;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf56;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398112 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:118,9,0
3 127323830 rs893293 C T 1483.43 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.42;MQ0=0;QD=37.09;SNPEFF_AMINO_ACID_CHANGE=I149;SNPEFF_CODON_CHANGE=atC/atT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_127323739_127323999;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MCM2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000543142 GT:AD:DP:GQ:PL 1/1:0,40:40:99:1516,117,0
3 127334598 rs17497118 G A 122.42 PASS AB=0.385;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.635;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.4105;MQ=60.0;MQ0=0;MQRankSum=0.831;QD=9.42;ReadPosRankSum=-0.529;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MCM2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265056 GT:AD:DP:GQ:PL 0/1:5,8:13:99:152,0,167
3 127336934 rs782427 A G 543.39 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.96;MQ0=0;QD=30.19;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MCM2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473785 GT:AD:DP:GQ:PL 1/1:0,18:18:42.13:576,42,0
3 127337742 rs17497159 G A 40.96 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.026;QD=10.24;ReadPosRankSum=-1.026;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MCM2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473785 GT:AD:DP:GQ:PL 0/1:2,2:4:70.37:71,0,70
3 127390525 rs41266485 C T 204.25 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=2.431;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.45;MQ0=0;MQRankSum=0.993;QD=13.62;ReadPosRankSum=-0.209;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PODXL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302192 GT:AD:DP:GQ:PL 0/1:7,8:15:99:234,0,209
3 127394820 rs35703629 C T 205.72 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.876;DB;DP=17;Dels=0.0;FS=1.957;HRun=1;HaplotypeScore=0.0;MQ=58.63;MQ0=0;MQRankSum=0.914;QD=12.1;ReadPosRankSum=0.048;SNPEFF_AMINO_ACID_CHANGE=R34;SNPEFF_CODON_CHANGE=cgC/cgT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_127394813_127394903;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ABTB1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000361019 GT:AD:DP:GQ:PL 0/1:8,9:17:99:236,0,220
3 127396220 rs1658037 T C 629.81 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.05;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ABTB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466612 GT:AD:DP:GQ:PL 1/1:0,17:17:51.16:663,51,0
3 127411064 rs138910107 C T 715.02 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.643;DB;DP=40;Dels=0.0;FS=3.009;HRun=0;HaplotypeScore=0.0;MQ=58.25;MQ0=0;MQRankSum=0.262;QD=17.88;ReadPosRankSum=-0.732;SNPEFF_AMINO_ACID_CHANGE=A149T;SNPEFF_CODON_CHANGE=Gca/Aca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_127410960_127411166;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MGLL;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000487473 GT:AD:DP:GQ:PL 0/1:16,24:40:99:745,0,423
3 127980995 rs61740550 C T 982.96 PASS AB=0.493;AC=1;AF=0.50;AN=2;BaseQRankSum=2.334;DB;DP=73;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.68;MQ0=0;MQRankSum=0.078;QD=13.47;ReadPosRankSum=2.07;SNPEFF_AMINO_ACID_CHANGE=P183;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_127980971_127981067;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EEFSEC;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000254730 GT:AD:DP:GQ:PL 0/1:36,37:73:99:1013,0,878
3 127983495 rs2811544 T C 2561.82 PASS AC=2;AF=1.00;AN=2;DB;DP=87;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.45;SNPEFF_AMINO_ACID_CHANGE=D219;SNPEFF_CODON_CHANGE=gaT/gaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_127983460_127983624;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EEFSEC;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000254730 GT:AD:DP:GQ:PL 1/1:0,87:87:99:2595,193,0
3 127983796 rs2811543 T G 93.97 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.79;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EEFSEC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000254730 GT:AD:DP:GQ:PL 1/1:0,5:5:9.03:126,9,0
3 127983800 rs2811542 A C 92.06 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.01;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=EEFSEC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000254730 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:124,9,0
3 128181777 rs2659690 A G 491.67 PASS AB=0.415;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.029;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=59.44;MQ0=0;MQRankSum=-1.67;QD=11.99;ReadPosRankSum=0.262;SNPEFF_AMINO_ACID_CHANGE=F104;SNPEFF_CODON_CHANGE=ttT/ttC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_128181285_128182953;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAJB8;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000319153 GT:AD:DP:GQ:PL 0/1:17,24:41:99:522,0,529
3 128292060 rs2734045 G A 558.47 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.9647;MQ=50.65;MQ0=0;QD=34.9;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf27;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356020 GT:AD:DP:GQ:PL 1/1:0,16:16:48.14:591,48,0
3 128292213 rs2734046 A G 1244.10 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=55.94;MQ0=0;QD=30.34;SNPEFF_AMINO_ACID_CHANGE=S120;SNPEFF_CODON_CHANGE=tcT/tcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_128290843_128293146;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf27;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000356020 GT:AD:DP:GQ:PL 1/1:0,41:41:99:1277,105,0
3 128340896 rs2712419 T C 38.51 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=9.63;ReadPosRankSum=1.026;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RPN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000490166 GT:AD:DP:GQ:PL 0/1:2,2:4:68.51:69,0,69
3 128341475 rs6414311 C T 50.05 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.02;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RPN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000490166 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
3 128344786 rs1126828 G A 531.97 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.431;DB;DP=34;Dels=0.0;FS=7.749;HRun=0;HaplotypeScore=1.8295;MQ=58.63;MQ0=0;MQRankSum=-0.121;QD=15.65;ReadPosRankSum=-0.19;SNPEFF_AMINO_ACID_CHANGE=D173;SNPEFF_CODON_CHANGE=gaC/gaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_128344717_128344855;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RPN1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000537139 GT:AD:DP:GQ:PL 0/1:16,18:34:99:562,0,495
3 128348735 rs11453536 G GA 238.93 PASS AB=0.64;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.011;DB;DP=16;FS=0.0;HRun=7;HaplotypeScore=34.0573;IndelType=I;MQ=60.0;MQ0=0;MQRankSum=-1.376;QD=14.93;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RPN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000495462 GT:AD:DP:GQ:PL 0/1:7,9:16:99:278,0,154
3 128356852 rs1697 C T 405.79 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=2.879;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.34;MQ0=0;MQRankSum=0.32;QD=11.59;ReadPosRankSum=0.522;SNPEFF_AMINO_ACID_CHANGE=P115;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_128356642_128356948;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RPN1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000545956 GT:AD:DP:GQ:PL 0/1:21,14:35:99:436,0,666
3 128598367 rs183973851 T C 335.77 PASS AB=0.45;AC=1;AF=0.50;AN=2;BaseQRankSum=2.431;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.608;QD=16.79;ReadPosRankSum=0.152;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ACAD9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000308982 GT:AD:DP:GQ:PL 0/1:9,11:20:99:366,0,232
3 128598469 rs62783861 CGT C 566.09 PASS AB=0.721;AC=1;AF=0.50;AN=2;BaseQRankSum=5.06;DB;DP=49;FS=0.0;HRun=0;HaplotypeScore=164.2985;IndelType=D;MQ=60.22;MQ0=0;MQRankSum=-0.211;QD=11.55;ReadPosRankSum=0.97;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ACAD9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000505602 GT:AD:DP:GQ:PL 0/1:30,19:49:99:605,0,1347
3 128614133 rs1683791 C T 171.51 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.421;DB;DP=14;Dels=0.0;FS=3.358;HRun=0;HaplotypeScore=0.0;MQ=58.33;MQ0=0;MQRankSum=0.299;QD=12.25;ReadPosRankSum=0.78;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ACAD9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000515429 GT:AD:DP:GQ:PL 0/1:7,7:14:99:202,0,246
3 128614185 rs1680778 A C 135.70 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.983;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.71;MQ0=0;MQRankSum=0.421;QD=7.54;ReadPosRankSum=-0.983;SNPEFF_AMINO_ACID_CHANGE=R127;SNPEFF_CODON_CHANGE=Aga/Cga;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_128614153_128614259;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ACAD9;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000308982 GT:AD:DP:GQ:PL 0/1:12,6:18:99:166,0,369
3 128616359 rs789213 C G 42.21 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9578;MQ=60.0;MQ0=0;MQRankSum=1.026;QD=10.55;ReadPosRankSum=1.026;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ACAD9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000514336 GT:AD:DP:GQ:PL 0/1:2,2:4:68.40:72,0,68
3 128624880 rs1683777 T G 115.07 PASS AB=0.722;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.183;DB;DP=18;Dels=0.0;FS=5.563;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.197;QD=6.39;ReadPosRankSum=0.789;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA1257;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000511438 GT:AD:DP:GQ:PL 0/1:13,5:18:99:145,0,373
3 128626952 rs1683786 T C 727.50 PASS AB=0.491;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.524;DB;DP=57;Dels=0.0;FS=3.37;HRun=1;HaplotypeScore=1.7334;MQ=60.0;MQ0=0;MQRankSum=-0.902;QD=12.76;ReadPosRankSum=-1.062;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA1257;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000511438 GT:AD:DP:GQ:PL 0/1:28,29:57:99:757,0,948
3 128627021 rs1683787 A G 1492.92 PASS AB=0.549;AC=1;AF=0.50;AN=2;BaseQRankSum=0.739;DB;DP=114;Dels=0.0;FS=6.177;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.27;QD=13.1;ReadPosRankSum=-0.959;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA1257;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000511438 GT:AD:DP:GQ:PL 0/1:62,51:114:99:1523,0,1710
3 128627753 rs876754 T C 148.14 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.583;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.583;QD=12.34;ReadPosRankSum=0.467;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ACAD9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000505192 GT:AD:DP:GQ:PL 0/1:6,6:12:99:178,0,178
3 128627933 rs876755 C T 169.21 PASS AB=0.579;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.041;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9894;MQ=60.0;MQ0=0;MQRankSum=0.289;QD=8.91;ReadPosRankSum=-0.784;SNPEFF_AMINO_ACID_CHANGE=P359;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_128627816_128627942;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ACAD9;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000334167 GT:AD:DP:GQ:PL 0/1:11,8:19:99:199,0,351
3 128629505 rs71618173 C CTGAT 1676.38 PASS AB=0.679;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.709;DB;DP=38;FS=0.0;HRun=0;HaplotypeScore=140.259;IndelType=I;MQ=54.56;MQ0=0;MQRankSum=-1.926;QD=44.12;ReadPosRankSum=-0.423;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ACAD9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000505192 GT:AD:DP:GQ:PL 0/1:20,17:38:99:1715,0,673
3 128651536 rs1683817 G A 258.49 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=2.177;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.222;QD=18.46;ReadPosRankSum=0.627;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA1257;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000511438 GT:AD:DP:GQ:PL 0/1:6,8:14:99:288,0,134
3 128653952 rs883602 A G 41.63 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=13.88;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KIAA1257;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000511438 GT:AD:DP:GQ:PL 0/1:1,2:3:32.20:72,0,32
3 128755814 rs3732429 T C 521.29 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.943;DB;DP=44;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=59.05;MQ0=0;MQRankSum=-0.248;QD=11.85;ReadPosRankSum=-0.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC48;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000436022 GT:AD:DP:GQ:PL 0/1:22,22:44:99:551,0,558
3 128755953 rs3732430 G A 88.67 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=1.763;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.55;MQ0=0;MQRankSum=0.979;QD=5.54;ReadPosRankSum=0.326;SNPEFF_AMINO_ACID_CHANGE=R528Q;SNPEFF_CODON_CHANGE=cGg/cAg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_128755820_128755960;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC48;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000480450 GT:AD:DP:GQ:PL 0/1:12,4:16:99:119,0,290
3 128755971 rs3732431 G A 65.97 PASS AB=0.643;AC=1;AF=0.50;AN=2;BaseQRankSum=0.533;DB;DP=14;Dels=0.0;FS=2.158;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.8;QD=4.71;ReadPosRankSum=-1.6;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC48;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000436022 GT:AD:DP:GQ:PL 0/1:9,5:14:95.96:96,0,242
3 128757560 rs2306529 C G 667.79 PASS AB=0.353;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.543;DB;DP=35;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=-0.206;QD=19.08;ReadPosRankSum=0.617;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC48;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000436022 GT:AD:DP:GQ:PL 0/1:12,22:35:99:698,0,320
3 128840034 rs9865992 T C 112.48 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=52.65;MQ0=0;QD=28.12;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ISY1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000418265 GT:AD:DP:GQ:PL 1/1:0,4:4:12.01:145,12,0
3 128853622 rs7646403 C G 974.90 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9983;MQ=59.25;MQ0=0;QD=31.45;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ISY1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273541 GT:AD:DP:GQ:PL 1/1:0,31:31:75.23:1008,75,0
3 128853962 rs12630170 C T 124.33 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.08;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ISY1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273541 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:157,12,0
3 128859202 rs10664499 C CTTAG 5761.71 PASS AC=2;AF=1.00;AN=2;DB;DP=78;FS=0.0;HRun=0;HaplotypeScore=234.4091;IndelType=I;MQ=58.3;MQ0=0;QD=73.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ISY1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273541 GT:AD:DP:GQ:PL 1/1:5,70:78:99:5762,220,0
3 128864520 rs9842978 C G 586.11 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=55.8;MQ0=0;QD=34.48;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ISY1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273541 GT:AD:DP:GQ:PL 1/1:0,17:17:48.15:619,48,0
3 128864540 rs9880527 A G 1077.70 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.85;MQ0=0;QD=35.92;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ISY1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273541 GT:AD:DP:GQ:PL 1/1:0,30:30:87.27:1111,87,0
3 128877521 rs4452346 C T 1141.42 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.82;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ISY1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273541 GT:AD:DP:GQ:PL 1/1:0,31:31:90.26:1174,90,0
3 128890350 rs4303883 G A 2264.08 PASS AC=2;AF=1.00;AN=2;DB;DP=70;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.34;SNPEFF_AMINO_ACID_CHANGE=D35;SNPEFF_CODON_CHANGE=gaC/gaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_128890289_128890351;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CNBP;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000500450 GT:AD:DP:GQ:PL 1/1:0,70:70:99:2297,169,0
3 128979008 rs4927943 C T 206.30 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.299;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.406;QD=14.74;ReadPosRankSum=-1.027;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COPG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000314797 GT:AD:DP:GQ:PL 0/1:7,7:14:99:236,0,252
3 128979779 rs141655727 A G 35.47 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=0.55;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.62;MQ0=0;MQRankSum=-0.55;QD=5.07;ReadPosRankSum=-0.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COPG;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000314797 GT:AD:DP:GQ:PL 0/1:4,3:7:65.46:65,0,150
3 129020778 rs6765930 A G 2750.29 PASS AC=2;AF=1.00;AN=2;DB;DP=81;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.3548;MQ=59.72;MQ0=0;QD=33.95;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf37;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000383463 GT:AD:DP:GQ:PL 1/1:0,80:81:99:2783,214,0
3 129041882 rs6790635 T C 793.24 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.2;MQ0=0;QD=30.51;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP13-685P2.4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000506964 GT:AD:DP:GQ:PL 1/1:0,26:26:63.19:826,63,0
3 129044006 rs10934882 T C 455.64 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.97;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=antisense;SNPEFF_GENE_NAME=RP13-685P2.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000433902 GT:AD:DP:GQ:PL 1/1:0,12:12:36.12:489,36,0
3 129152144 rs140695 T C 218.18 PASS AB=0.686;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.297;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9966;MQ=59.34;MQ0=0;MQRankSum=0.468;QD=6.23;ReadPosRankSum=1.89;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MBD4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000505883 GT:AD:DP:GQ:PL 0/1:24,11:35:99:248,0,655
3 129185661 rs6805886 C A 688.96 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.45;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IFT122;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000514081 GT:AD:DP:GQ:PL 1/1:0,20:20:57.15:722,57,0
3 129278760 rs147328612 C T 35 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=1.495;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9545;MQ=60.0;MQ0=0;MQRankSum=0.922;QD=5.0;ReadPosRankSum=-1.495;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXND1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000503166 GT:AD:DP:GQ:PL 0/1:5,2:7:64.99:65,0,84
3 129279597 rs2713627 C T 1116.51 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.01;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXND1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000503166 GT:AD:DP:GQ:PL 1/1:0,36:36:84.25:1150,84,0
3 129281458 rs2811469 G A 78.51 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=51.77;MQ0=0;QD=26.17;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXND1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000503166 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:111,9,0
3 129281866 rs2713626 G C 169.93 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.556;DB;DP=15;Dels=0.0;FS=5.021;HRun=0;HaplotypeScore=0.9159;MQ=60.0;MQ0=0;MQRankSum=-0.209;QD=11.33;ReadPosRankSum=-1.22;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXND1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000503166 GT:AD:DP:GQ:PL 0/1:7,8:15:99:200,0,258
3 129281980 rs2713625 C T 386.58 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.16;SNPEFF_AMINO_ACID_CHANGE=S1542N;SNPEFF_CODON_CHANGE=aGt/aAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_129281937_129282083;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXND1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000324093 GT:AD:DP:GQ:PL 1/1:0,16:16:30.10:420,30,0
3 129284415 rs2625972 G T 106.33 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.977;DB;DP=12;Dels=0.0;FS=3.802;HRun=2;HaplotypeScore=0.9999;MQ=58.05;MQ0=0;MQRankSum=0.135;QD=8.86;ReadPosRankSum=-1.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXND1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000514990 GT:AD:DP:GQ:PL 0/1:7,5:12:99:136,0,247
3 129284637 rs2245469 A G 56.13 PASS AB=0.727;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.978;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=0.978;QD=5.1;ReadPosRankSum=-1.708;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXND1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000504767 GT:AD:DP:GQ:PL 0/1:8,3:11:86.12:86,0,286
3 129284818 rs2625973 A C 283.75 PASS AB=0.542;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.308;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.03;MQ0=0;MQRankSum=-0.215;QD=11.82;ReadPosRankSum=3.047;SNPEFF_AMINO_ACID_CHANGE=L1412V;SNPEFF_CODON_CHANGE=Ttg/Gtg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_129284730_129284860;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXND1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000324093 GT:AD:DP:GQ:PL 0/1:13,11:24:99:314,0,348
3 129286413 rs2245285 G C 287.87 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.184;DB;DP=15;Dels=0.0;FS=2.158;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.061;QD=19.19;ReadPosRankSum=0.429;SNPEFF_AMINO_ACID_CHANGE=L1336;SNPEFF_CODON_CHANGE=ctC/ctG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_129286335_129286447;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXND1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000324093 GT:AD:DP:GQ:PL 0/1:5,10:15:99:318,0,126
3 129286531 rs2245281 C A 584.56 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.743;DB;DP=28;Dels=0.0;FS=1.895;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.955;QD=20.88;ReadPosRankSum=0.955;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXND1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000504767 GT:AD:DP:GQ:PL 0/1:7,21:28:99:615,0,174
3 129286635 rs2245278 G A 688.70 PASS AB=0.267;AC=1;AF=0.50;AN=2;BaseQRankSum=0.023;DB;DP=30;Dels=0.0;FS=1.661;HRun=2;HaplotypeScore=0.0;MQ=59.38;MQ0=0;MQRankSum=2.181;QD=22.96;ReadPosRankSum=-0.211;SNPEFF_AMINO_ACID_CHANGE=F1293;SNPEFF_CODON_CHANGE=ttC/ttT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_129286541_129286648;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXND1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000324093 GT:AD:DP:GQ:PL 0/1:8,22:30:99:719,0,212
3 129289831 rs2244962 A G 2100.82 PASS AB=0.539;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.388;DB;DP=156;DS;Dels=0.0;FS=4.466;HRun=1;HaplotypeScore=1.933;MQ=59.14;MQ0=0;MQRankSum=0.39;QD=13.47;ReadPosRankSum=-0.59;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXND1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000505505 GT:AD:DP:GQ:PL 0/1:83,71:156:99:2131,0,2674
3 129290187 rs2285367 T C 139.26 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.361;DB;DP=9;Dels=0.0;FS=2.808;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=15.47;ReadPosRankSum=0.361;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXND1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000505505 GT:AD:DP:GQ:PL 0/1:4,5:9:99:169,0,130
3 129291751 rs2244708 T C 263.46 PASS AB=0.381;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.412;DB;DP=21;Dels=0.0;FS=1.719;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.905;QD=12.55;ReadPosRankSum=0.616;SNPEFF_AMINO_ACID_CHANGE=P957;SNPEFF_CODON_CHANGE=ccA/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_129291685_129291784;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXND1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000324093 GT:AD:DP:GQ:PL 0/1:8,13:21:99:293,0,223
3 129293183 rs2625962 T C 159.66 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.93;SNPEFF_AMINO_ACID_CHANGE=H894R;SNPEFF_CODON_CHANGE=cAc/cGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_129293179_129293333;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXND1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000324093 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:192,15,0
3 129293256 rs2255703 T C 102.84 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.38;QD=17.14;ReadPosRankSum=0.72;SNPEFF_AMINO_ACID_CHANGE=M870V;SNPEFF_CODON_CHANGE=Atg/Gtg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_129293179_129293333;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXND1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000324093 GT:AD:DP:GQ:PL 0/1:2,4:6:63.82:133,0,64
3 129297012 rs1872112 G C 46.38 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.19;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXND1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000324093 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:78,6,0
3 129297223 rs1110168 C G 182.58 PASS AB=0.273;AC=1;AF=0.50;AN=2;BaseQRankSum=0.566;DB;DP=11;Dels=0.0;FS=2.73;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.715;QD=16.6;ReadPosRankSum=0.382;SNPEFF_AMINO_ACID_CHANGE=T765;SNPEFF_CODON_CHANGE=acG/acC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_129297172_129297276;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXND1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000324093 GT:AD:DP:GQ:PL 0/1:3,8:11:55.95:213,0,56
3 129303197 rs2811463 T C 685.94 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=53.61;MQ0=0;QD=36.1;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXND1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000505237 GT:AD:DP:GQ:PL 1/1:0,19:19:57.15:719,57,0
3 129303436 rs2811462 T G 218.42 PASS AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=2.573;DB;DP=19;Dels=0.0;FS=6.99;HRun=5;HaplotypeScore=0.0;MQ=57.53;MQ0=0;MQRankSum=-0.998;QD=11.5;ReadPosRankSum=1.733;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXND1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000505237 GT:AD:DP:GQ:PL 0/1:10,9:19:99:248,0,203
3 129308096 rs13079843 G A 41.43 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.026;QD=10.36;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXND1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000324093 GT:AD:DP:GQ:PL 0/1:2,2:4:67.18:71,0,67
3 129324193 rs7619850 A G 40.09 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.05;SNPEFF_AMINO_ACID_CHANGE=C430;SNPEFF_CODON_CHANGE=tgT/tgC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_129324172_129325661;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLXND1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000324093 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:71,6,0
3 129390129 rs6769406 C G 296.91 PASS AB=0.308;AC=1;AF=0.50;AN=2;BaseQRankSum=1.312;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.231;QD=22.84;ReadPosRankSum=-0.077;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMCC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000329333 GT:AD:DP:GQ:PL 0/1:4,9:13:99:327,0,122
3 129546664 rs72987361 C T 757.64 PASS AB=0.517;AC=1;AF=0.50;AN=2;BaseQRankSum=2.358;DB;DP=58;Dels=0.0;FS=1.124;HRun=1;HaplotypeScore=1.9367;MQ=59.28;MQ0=0;MQRankSum=0.55;QD=13.06;ReadPosRankSum=0.353;SNPEFF_AMINO_ACID_CHANGE=E186;SNPEFF_CODON_CHANGE=gaG/gaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_129546646_129547351;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMCC1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000393238 GT:AD:DP:GQ:PL 0/1:30,28:58:99:788,0,853
3 129546729 rs784689 T C 905.66 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.25;MQ0=0;QD=29.21;SNPEFF_AMINO_ACID_CHANGE=S165G;SNPEFF_CODON_CHANGE=Agc/Ggc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_129546646_129547351;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMCC1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000393238 GT:AD:DP:GQ:PL 1/1:0,31:31:81.20:939,81,0
3 129694934 rs784705 C A 256.84 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.69;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302649 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:290,21,0
3 129695373 rs7645772 T C 154.67 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=1.517;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.322;QD=19.33;ReadPosRankSum=0.956;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302649 GT:AD:DP:GQ:PL 0/1:3,5:8:99:185,0,99
3 129695440 rs13097335 G T 242.28 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.79;DB;DP=24;Dels=0.0;FS=1.77;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.849;QD=10.1;ReadPosRankSum=0.556;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302649 GT:AD:DP:GQ:PL 0/1:14,10:24:99:272,0,472
3 129695538 rs784704 C T 1945.60 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.13;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRH;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302649 GT:AD:DP:GQ:PL 1/1:0,57:57:99:1979,150,0
3 129695954 rs5662 T C 897.02 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.17;MQ0=0;QD=32.04;SNPEFF_AMINO_ACID_CHANGE=L204;SNPEFF_CODON_CHANGE=ctT/ctC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_129695542_129696778;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRH;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000507066 GT:AD:DP:GQ:PL 1/1:0,28:28:72.22:930,72,0
3 129696041 rs5663 A G 614.30 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.63;MQ0=0;QD=36.14;SNPEFF_AMINO_ACID_CHANGE=R233;SNPEFF_CODON_CHANGE=agA/agG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_129695542_129696778;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRH;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000507066 GT:AD:DP:GQ:PL 1/1:0,17:17:51.15:647,51,0
3 129740598 rs2953780 C T 2935.47 PASS AC=2;AF=1.00;AN=2;DB;DP=89;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9789;MQ=46.98;MQ0=0;QD=32.98;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP11-93K22.8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000504655 GT:AD:DP:GQ:PL 1/1:0,89:89:99:2968,235,0
3 129740831 rs2976153 T A 2970.51 MQFilter40 AC=2;AF=1.00;AN=2;BaseQRankSum=1.673;DB;DP=127;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=1.9717;MQ=39.85;MQ0=8;MQRankSum=-0.558;QD=23.39;ReadPosRankSum=1.321;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP11-93K22.8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000504655 GT:AD:DP:GQ:PL 1/1:2,125:127:99:3004,225,0
3 129743111 rs2953776 T A 46.56 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.52;MQ0=0;QD=23.28;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP11-93K22.8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000504655 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:78,6,0
3 129743354 rs2976150 A G 86.73 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=23.61;MQ0=0;QD=12.39;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unprocessed_pseudogene;SNPEFF_GENE_NAME=RP11-93K22.8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000504655 GT:AD:DP:GQ:PL 1/1:0,7:7:12.02:119,12,0
3 129810022 rs6779417 A G 157.31 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.04;MQ0=0;QD=26.22;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RP11-93K22.11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000425059 GT:AD:DP:GQ:PL 1/1:0,6:6:18.03:190,18,0
3 129810128 rs6804080 G A 280.44 PASS AB=0.633;AC=1;AF=0.50;AN=2;BaseQRankSum=1.596;DB;DP=30;Dels=0.0;FS=5.636;HRun=0;HaplotypeScore=0.0;MQ=59.13;MQ0=0;MQRankSum=0.697;QD=9.35;ReadPosRankSum=0.022;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RP11-93K22.11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000425059 GT:AD:DP:GQ:PL 0/1:19,11:30:99:310,0,472
3 129810158 rs6803922 C T 345.76 PASS AB=0.613;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.061;DB;DP=31;Dels=0.0;FS=3.448;HRun=0;HaplotypeScore=0.8321;MQ=59.06;MQ0=0;MQRankSum=1.683;QD=11.15;ReadPosRankSum=0.791;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RP11-93K22.11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000425059 GT:AD:DP:GQ:PL 0/1:19,12:31:99:376,0,610
3 129810234 rs12495049 C T 205.11 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=0.867;DB;DP=20;Dels=0.0;FS=1.808;HRun=1;HaplotypeScore=0.0;MQ=58.23;MQ0=0;MQRankSum=-0.289;QD=10.26;ReadPosRankSum=0.206;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RP11-93K22.11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000425059 GT:AD:DP:GQ:PL 0/1:12,8:20:99:235,0,304
3 129817888 rs183706721 T C 171.31 PASS AB=0.143;AC=1;AF=0.50;AN=2;BaseQRankSum=0.742;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.7;MQ0=0;MQRankSum=-0.742;QD=24.47;ReadPosRankSum=0.742;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FAM86HP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000500074 GT:AD:DP:GQ:PL 0/1:1,6:7:19.58:201,0,20
3 129818152 rs56848274 CA C 2470.74 PASS AB=0.679;AC=1;AF=0.50;AN=2;BaseQRankSum=8.266;DB;DP=151;FS=2.879;HRun=3;HaplotypeScore=384.0956;IndelType=D;MQ=58.14;MQ0=1;MQRankSum=0.279;QD=16.25;ReadPosRankSum=-0.373;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FAM86HP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000500074 GT:AD:DP:GQ:PL 0/1:80,72:151:99:2510,0,3307
3 129818389 rs56235703 A G 258.48 PASS AB=0.385;AC=1;AF=0.50;AN=2;BaseQRankSum=1.092;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.533;QD=19.88;ReadPosRankSum=-0.817;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FAM86HP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000500074 GT:AD:DP:GQ:PL 0/1:5,8:13:99:288,0,163
3 129818509 rs56039375 A G 43.39 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=4.771;HRun=0;HaplotypeScore=0.0;MQ=59.02;MQ0=0;MQRankSum=-0.736;QD=14.46;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FAM86HP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000500074 GT:AD:DP:GQ:PL 0/1:1,2:3:27.95:73,0,28
3 129821650 rs56088005 G A 1657.87 PASS AB=0.486;AC=1;AF=0.50;AN=2;BaseQRankSum=3.614;DB;DP=109;Dels=0.0;FS=0.731;HRun=0;HaplotypeScore=3.3393;MQ=59.39;MQ0=0;MQRankSum=1.665;QD=15.21;ReadPosRankSum=-0.234;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RP11-93K22.11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000425059 GT:AD:DP:GQ:PL 0/1:53,56:109:99:1688,0,1481
3 129821816 rs75177871 C G 1000.28 PASS AB=0.377;AC=1;AF=0.50;AN=2;BaseQRankSum=0.339;DB;DP=53;Dels=0.0;FS=1.565;HRun=0;HaplotypeScore=0.0;MQ=55.03;MQ0=0;MQRankSum=1.459;QD=18.87;ReadPosRankSum=-1.055;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RP11-93K22.11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000425059 GT:AD:DP:GQ:PL 0/1:20,33:53:99:1030,0,601
3 129822441 rs6808888 C A 38.66 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.754;DB;DP=8;Dels=0.0;FS=3.979;HRun=0;HaplotypeScore=0.0;MQ=40.57;MQ0=1;MQRankSum=-1.754;QD=4.83;ReadPosRankSum=0.55;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FAM86HP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000500074 GT:AD:DP:GQ:PL 0/1:3,5:8:68.65:69,0,108
3 129822492 rs9713340 G A 238.61 PASS AB=0.536;AC=1;AF=0.50;AN=2;BaseQRankSum=3.586;DB;DP=28;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8667;MQ=48.62;MQ0=1;MQRankSum=-3.098;QD=8.52;ReadPosRankSum=1.244;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FAM86HP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000500074 GT:AD:DP:GQ:PL 0/1:15,13:28:99:269,0,401
3 129822494 rs9713334 C T 234.98 PASS AB=0.536;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.147;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=48.62;MQ0=1;MQRankSum=-3.001;QD=8.39;ReadPosRankSum=1.391;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FAM86HP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000500074 GT:AD:DP:GQ:PL 0/1:15,13:28:99:265,0,478
3 129822552 rs9713344 G A 569.26 PASS AB=0.551;AC=1;AF=0.50;AN=2;BaseQRankSum=4.128;DB;DP=49;Dels=0.0;FS=1.674;HRun=0;HaplotypeScore=0.0;MQ=46.38;MQ0=0;MQRankSum=-2.08;QD=11.62;ReadPosRankSum=0.176;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FAM86HP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000500074 GT:AD:DP:GQ:PL 0/1:27,22:49:99:599,0,648
3 129822616 rs78806708 G C 475.90 MQFilter40 AB=0.569;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.949;DB;DP=65;Dels=0.0;FS=5.732;HRun=0;HaplotypeScore=2.3548;MQ=36.67;MQ0=3;MQRankSum=-1.491;QD=7.32;ReadPosRankSum=-1.177;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FAM86HP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000500074 GT:AD:DP:GQ:PL 0/1:37,28:65:99:506,0,1022
3 129822634 rs9713346 G A 652.34 MQFilter40 AB=0.548;AC=1;AF=0.50;AN=2;BaseQRankSum=2.341;DB;DP=73;Dels=0.0;FS=3.655;HRun=0;HaplotypeScore=2.3548;MQ=34.19;MQ0=3;MQRankSum=-0.993;QD=8.94;ReadPosRankSum=0.662;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FAM86HP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000500074 GT:AD:DP:GQ:PL 0/1:40,33:73:99:682,0,968
3 129822639 rs2624639 A G 1860.88 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=75;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.2829;MQ=32.15;MQ0=5;QD=24.81;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FAM86HP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000500074 GT:AD:DP:GQ:PL 1/1:0,75:75:99:1894,162,0
3 129822950 rs12495527 A G 1133.20 PASS AB=0.476;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.369;DB;DP=84;Dels=0.0;FS=1.769;HRun=2;HaplotypeScore=0.0;MQ=59.02;MQ0=0;MQRankSum=-1.205;QD=13.49;ReadPosRankSum=-0.309;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FAM86HP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000500074 GT:AD:DP:GQ:PL 0/1:40,44:84:99:1163,0,1304
3 129825955 rs7432233 A G 406.02 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=0.341;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.3;MQ0=0;MQRankSum=-0.279;QD=16.92;ReadPosRankSum=-0.279;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FAM86HP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000500074 GT:AD:DP:GQ:PL 0/1:10,14:24:99:436,0,289
3 129826002 rs7428346 G T 485.42 PASS AB=0.673;AC=1;AF=0.50;AN=2;BaseQRankSum=4.798;DB;DP=55;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9995;MQ=57.85;MQ0=0;MQRankSum=0.242;QD=8.83;ReadPosRankSum=1.067;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FAM86HP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000500074 GT:AD:DP:GQ:PL 0/1:37,18:55:99:515,0,1068
3 129826031 rs7428327 C T 688.75 PASS AB=0.649;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.897;DB;DP=77;Dels=0.0;FS=1.44;HRun=0;HaplotypeScore=0.0;MQ=56.47;MQ0=0;MQRankSum=1.819;QD=8.94;ReadPosRankSum=-1.853;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FAM86HP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000500074 GT:AD:DP:GQ:PL 0/1:50,27:77:99:719,0,1561
3 129826100 rs7428344 C T 1141.46 PASS AB=0.617;AC=1;AF=0.50;AN=2;BaseQRankSum=1.141;DB;DP=115;Dels=0.0;FS=0.722;HRun=0;HaplotypeScore=1.9075;MQ=54.47;MQ0=2;MQRankSum=0.438;QD=9.93;ReadPosRankSum=-0.724;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FAM86HP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000500074 GT:AD:DP:GQ:PL 0/1:71,44:115:99:1171,0,2027
3 129826344 rs112319225 T G 79.98 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=44.58;MQ0=0;QD=26.66;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FAM86HP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000500074 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:112,9,0
3 129827764 rs2587973 A G 75.06 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=49.16;MQ0=0;QD=25.02;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FAM86HP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000500074 GT:AD:DP:GQ:PL 1/1:0,3:3:9.02:107,9,0
3 129827901 rs73210763 A G 273.26 PASS AB=0.478;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.293;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.13;MQ0=0;MQRankSum=-0.831;QD=11.88;ReadPosRankSum=-0.831;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=FAM86HP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000500074 GT:AD:DP:GQ:PL 0/1:11,12:23:99:303,0,399
3 129902395 rs2624583 G A 1600.61 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=34.78;MQ0=6;QD=28.08;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AC130888.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408343 GT:AD:DP:GQ:PL 1/1:3,54:57:99:1634,138,0
3 129902475 rs2588009 A G 1623.15 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.8237;MQ=46.28;MQ0=3;QD=29.51;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AC130888.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408343 GT:AD:DP:GQ:PL 1/1:0,55:55:99:1656,132,0
3 129902663 rs2588010 T A 89.74 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=53.44;MQ0=0;QD=29.91;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AC130888.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408343 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:122,9,0
3 130159934 rs7629719 G T 52.28 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=COL6A5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265379 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
3 130162395 rs9883988 A G 3339.91 PASS AC=2;AF=1.00;AN=2;DB;DP=107;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.83;MQ0=0;QD=31.21;SNPEFF_AMINO_ACID_CHANGE=Q131R;SNPEFF_CODON_CHANGE=cAa/cGa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_130162320_130162410;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=COL6A5;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000373157 GT:AD:DP:GQ:PL 1/1:0,107:107:99:3340,265,0
3 130174334 rs819085 G A 3077.85 PASS AC=2;AF=1.00;AN=2;DB;DP=87;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.38;SNPEFF_AMINO_ACID_CHANGE=G148D;SNPEFF_CODON_CHANGE=gGt/gAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_130174299_130174510;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=COL6A5;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000373157 GT:AD:DP:GQ:PL 1/1:0,87:87:99:3111,232,0
3 130187817 rs322113 T C 4125.82 PASS AC=2;AF=1.00;AN=2;DB;DP=124;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.81;MQ0=0;QD=33.27;SNPEFF_AMINO_ACID_CHANGE=I158;SNPEFF_CODON_CHANGE=atT/atC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_130187639_130188325;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=COL6A5;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000512482 GT:AD:DP:GQ:PL 1/1:0,124:124:99:4126,322,0
3 130189918 rs10668406 T TTG 213.34 PASS AB=0.727;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.054;DB;DP=16;FS=0.0;HRun=0;HaplotypeScore=53.3799;IndelType=I;MQ=55.52;MQ0=0;MQRankSum=2.054;QD=13.33;ReadPosRankSum=0.248;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=COL6A5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265379 GT:AD:DP:GQ:PL 0/1:10,6:16:48.78:252,0,49
3 130190026 rs322115 T A 51.22 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.61;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=COL6A5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265379 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
3 130190056 rs191217 G A 44.89 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.45;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=COL6A5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265379 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:76,6,0
3 130284284 rs9830253 G A 4054.73 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.67;DB;DP=124;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=59.63;MQ0=0;MQRankSum=1.257;QD=32.7;ReadPosRankSum=-0.95;SNPEFF_AMINO_ACID_CHANGE=A370T;SNPEFF_CODON_CHANGE=Gcc/Acc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_130283838_130284458;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL6A6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000358511 GT:AD:DP:GQ:PL 1/1:1,123:124:99:4055,278,0
3 130286886 rs9836961 T C 2138.74 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.89;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL6A6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358511 GT:AD:DP:GQ:PL 1/1:0,55:55:99:2172,160,0
3 130289617 rs10934949 T C 2286.43 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.8941;MQ=59.28;MQ0=0;QD=35.73;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL6A6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358511 GT:AD:DP:GQ:PL 1/1:0,63:64:99:2319,178,0
3 130300650 rs6439249 T C 7676.07 PASS AC=2;AF=1.00;AN=2;DB;DP=223;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.9774;MQ=59.69;MQ0=0;QD=34.42;SNPEFF_AMINO_ACID_CHANGE=L1265;SNPEFF_CODON_CHANGE=Ttg/Ctg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_130300405_130300748;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL6A6;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000358511 GT:AD:DP:GQ:PL 1/1:0,223:223:99:7676,587,0
3 130313017 rs1467015 T G 387.70 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.82;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL6A6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358511 GT:AD:DP:GQ:PL 1/1:0,13:13:33.11:421,33,0
3 130317341 rs4336088 G A 157.86 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL6A6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358511 GT:AD:DP:GQ:PL 1/1:0,7:7:15.02:191,15,0
3 130327973 rs56768629 C T 46.56 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=15.52;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL6A6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358511 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:78,6,0
3 130368069 rs7614116 A G 315.49 PASS AB=0.552;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.902;DB;DP=29;Dels=0.0;FS=3.891;HRun=0;HaplotypeScore=1.7046;MQ=59.2;MQ0=0;MQRankSum=0.184;QD=10.88;ReadPosRankSum=1.29;SNPEFF_AMINO_ACID_CHANGE=H1799R;SNPEFF_CODON_CHANGE=cAc/cGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_130367913_130368406;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL6A6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000358511 GT:AD:DP:GQ:PL 0/1:16,13:29:99:345,0,478
3 130383973 rs59386806 G A 1022.80 PASS AB=0.424;AC=1;AF=0.50;AN=2;BaseQRankSum=0.045;DB;DP=66;Dels=0.0;FS=15.155;HRun=2;HaplotypeScore=0.9983;MQ=60.0;MQ0=0;MQRankSum=-0.577;QD=15.5;ReadPosRankSum=1.966;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COL6A6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358511 GT:AD:DP:GQ:PL 0/1:28,38:66:99:1053,0,877
3 130393973 rs7635293 T A 347.48 PASS AB=0.522;AC=1;AF=0.50;AN=2;BaseQRankSum=1.2;DB;DP=23;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.139;QD=15.11;ReadPosRankSum=1.016;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIK3R4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356763 GT:AD:DP:GQ:PL 0/1:12,11:23:99:377,0,419
3 130422409 rs74909067 C G 113.54 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.55;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.62;MQ0=0;MQRankSum=0.55;QD=16.22;ReadPosRankSum=-1.754;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIK3R4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000508273 GT:AD:DP:GQ:PL 0/1:3,4:7:94.89:144,0,95
3 130424390 rs75791598 C A 991.93 PASS AB=0.507;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.261;DB;DP=71;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.35;MQ0=0;MQRankSum=-0.029;QD=13.97;ReadPosRankSum=0.135;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIK3R4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000508273 GT:AD:DP:GQ:PL 0/1:36,35:71:99:1022,0,1133
3 130424393 rs7652761 C T 1036.25 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.482;DB;DP=71;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.35;MQ0=0;MQRankSum=-0.81;QD=14.6;ReadPosRankSum=-0.446;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIK3R4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000508273 GT:AD:DP:GQ:PL 0/1:35,35:71:99:1066,0,1109
3 130447530 rs5852606 T TA 166.24 PASS AB=0.684;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.634;DB;DP=39;FS=0.0;HRun=16;HaplotypeScore=265.3947;IndelType=I;MQ=53.08;MQ0=0;MQRankSum=-0.38;QD=4.26;ReadPosRankSum=-1.817;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIK3R4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356763 GT:AD:DP:GQ:PL 0/1:18,15:39:30.45:205,0,30
3 130449222 rs2170990 A G 934.11 PASS AB=0.559;AC=1;AF=0.50;AN=2;BaseQRankSum=3.108;DB;DP=68;Dels=0.0;FS=10.739;HRun=0;HaplotypeScore=0.0;MQ=59.32;MQ0=0;MQRankSum=0.498;QD=13.74;ReadPosRankSum=-1.343;SNPEFF_AMINO_ACID_CHANGE=L505;SNPEFF_CODON_CHANGE=ctT/ctC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_130449152_130449286;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIK3R4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000356763 GT:AD:DP:GQ:PL 0/1:38,30:68:99:964,0,1282
3 130454884 rs111464199 T TA 891.87 PASS AB=0.632;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.132;DB;DP=48;FS=0.0;HRun=6;HaplotypeScore=102.1489;IndelType=I;MQ=60.45;MQ0=0;MQRankSum=-0.014;QD=18.58;ReadPosRankSum=-1.835;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIK3R4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356763 GT:AD:DP:GQ:PL 0/1:20,28:48:99:931,0,275
3 130648798 rs712984 A G 657.09 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=3.376;DB;DP=50;Dels=0.0;FS=2.838;HRun=1;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=0.136;QD=13.14;ReadPosRankSum=0.718;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP2C1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328560 GT:AD:DP:GQ:PL 0/1:25,25:50:99:687,0,847
3 130648906 rs861171 G A 381.39 PASS AB=0.313;AC=1;AF=0.50;AN=2;BaseQRankSum=0.566;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.133;QD=23.84;ReadPosRankSum=-0.68;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP2C1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328560 GT:AD:DP:GQ:PL 0/1:5,11:16:99:411,0,158
3 130659650 rs73201921 A T 98.54 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.361;DB;DP=10;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.361;QD=9.85;ReadPosRankSum=-0.729;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP2C1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000505072 GT:AD:DP:GQ:PL 0/1:5,5:10:99:129,0,165
3 130674022 rs218494 A G 36.50 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=7.3;ReadPosRankSum=1.231;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP2C1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328560 GT:AD:DP:GQ:PL 0/1:3,2:5:66.50:66,0,109
3 130685846 rs218497 A T 152.95 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=2.13;DB;DP=14;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.226;QD=10.92;ReadPosRankSum=1.097;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP2C1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328560 GT:AD:DP:GQ:PL 0/1:8,6:14:99:183,0,276
3 130734887 rs34645149 G GT 268.91 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.0;DB;DP=24;FS=0.0;HRun=11;HaplotypeScore=55.2867;IndelType=I;MQ=60.45;MQ0=0;MQRankSum=1.564;QD=11.2;ReadPosRankSum=0.042;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ASTE1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000504964 GT:AD:DP:GQ:PL 0/1:12,12:24:99:308,0,101
3 130737632 rs218503 A G 69.03 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=1.683;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.203;QD=7.67;ReadPosRankSum=1.203;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP2C1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328560 GT:AD:DP:GQ:PL 0/1:6,3:9:99:99,0,211
3 130748733 rs9864242 A G 576.51 PASS AB=0.465;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.059;DB;DP=43;Dels=0.0;FS=1.379;HRun=0;HaplotypeScore=0.9832;MQ=59.03;MQ0=0;MQRankSum=-0.329;QD=13.41;ReadPosRankSum=-0.621;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEK11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000507967 GT:AD:DP:GQ:PL 0/1:20,23:43:99:607,0,670
3 130828790 rs9850655 G A 723.89 PASS AB=0.491;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.427;DB;DP=53;Dels=0.0;FS=5.032;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.971;QD=13.66;ReadPosRankSum=-0.709;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEK11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356918 GT:AD:DP:GQ:PL 0/1:26,27:53:99:754,0,930
3 130874017 rs1400012 T C 132.87 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=1.532;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.466;QD=12.08;ReadPosRankSum=-0.387;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEK11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000426022 GT:AD:DP:GQ:PL 0/1:6,5:11:99:163,0,211
3 130881409 rs1913898 T C 839.11 PASS AB=0.622;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.209;DB;DP=74;Dels=0.0;FS=4.6;HRun=1;HaplotypeScore=0.9933;MQ=60.0;MQ0=0;MQRankSum=-0.73;QD=11.34;ReadPosRankSum=-0.463;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEK11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356918 GT:AD:DP:GQ:PL 0/1:46,28:74:99:869,0,1467
3 130884418 rs959073 A T 160.83 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=1.031;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=1.031;QD=14.62;ReadPosRankSum=-0.717;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEK11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000515636 GT:AD:DP:GQ:PL 0/1:5,6:11:99:191,0,173
3 130947435 rs3738000 A T 1895.82 PASS AB=0.452;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.555;DB;DP=115;Dels=0.0;FS=7.24;HRun=0;HaplotypeScore=1.9612;MQ=59.56;MQ0=0;MQRankSum=-0.554;QD=16.49;ReadPosRankSum=-0.705;SNPEFF_AMINO_ACID_CHANGE=E304V;SNPEFF_CODON_CHANGE=gAa/gTa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_130947372_130947532;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NEK11;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000412440 GT:AD:DP:GQ:PL 0/1:52,63:115:99:1926,0,1592
3 131245496 rs9839353 A C 134.16 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.633;DB;DP=10;Dels=0.0;FS=3.31;HRun=2;HaplotypeScore=0.0;MQ=57.66;MQ0=0;MQRankSum=-1.866;QD=13.42;ReadPosRankSum=-0.365;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP11-517B11.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000508390 GT:AD:DP:GQ:PL 0/1:4,6:10:99:164,0,138
3 131261662 rs11351082 TG T 589.33 PASS AC=2;AF=1.00;AN=2;DB;DP=31;FS=0.0;HRun=9;HaplotypeScore=76.4355;IndelType=D;MQ=61.38;MQ0=0;QD=19.01;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CPNE4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000429747 GT:AD:DP:GQ:PL 1/1:8,23:31:69.02:631,69,0
3 131271180 rs994967 T C 257.91 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.12;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.53;QD=17.19;ReadPosRankSum=-0.884;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CPNE4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000429747 GT:AD:DP:GQ:PL 0/1:6,9:15:99:288,0,187
3 131271439 rs2251178 T C 140.22 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.143;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9578;MQ=60.0;MQ0=0;MQRankSum=-0.717;QD=12.75;ReadPosRankSum=-0.387;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CPNE4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000429747 GT:AD:DP:GQ:PL 0/1:6,5:11:99:170,0,212
3 131283007 rs6439305 G A 827.61 PASS AB=0.541;AC=1;AF=0.50;AN=2;BaseQRankSum=3.415;DB;DP=61;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9363;MQ=59.62;MQ0=0;MQRankSum=-0.585;QD=13.57;ReadPosRankSum=-1.134;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CPNE4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000429747 GT:AD:DP:GQ:PL 0/1:33,28:61:99:858,0,904
3 131404572 rs6439314 A C 46.65 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=CPNE4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000429747 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:78,6,0
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3 132075707 rs2071505 A G 677.58 PASS AB=0.447;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.54;DB;DP=47;Dels=0.0;FS=1.483;HRun=1;HaplotypeScore=0.8321;MQ=58.51;MQ0=0;MQRankSum=0.299;QD=14.42;ReadPosRankSum=0.211;SNPEFF_AMINO_ACID_CHANGE=E349;SNPEFF_CODON_CHANGE=gaA/gaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_132075530_132075851;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACPP;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000475741 GT:AD:DP:GQ:PL 0/1:21,26:47:99:708,0,681
3 132075743 rs7625966 G C 467.88 PASS AB=0.424;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.244;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.87;MQ0=0;MQRankSum=0.565;QD=14.18;ReadPosRankSum=-1.803;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACPP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000512463 GT:AD:DP:GQ:PL 0/1:14,19:33:99:498,0,470
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3 132107649 rs2124503 T C 79.21 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.727;QD=19.8;ReadPosRankSum=0.727;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP11-65E22.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468439 GT:AD:DP:GQ:PL 0/1:1,3:4:30.19:109,0,30
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3 132166266 rs11917172 T G 293.52 PASS AB=0.676;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.028;DB;DP=37;Dels=0.0;FS=6.202;HRun=0;HaplotypeScore=0.9997;MQ=59.38;MQ0=0;MQRankSum=1.736;QD=7.93;ReadPosRankSum=2.06;SNPEFF_AMINO_ACID_CHANGE=T82;SNPEFF_CODON_CHANGE=acT/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_132166165_132166314;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAJC13;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000260818 GT:AD:DP:GQ:PL 0/1:25,12:37:99:324,0,938
3 132169705 rs72352963 T TA 83.32 PASS AB=0.724;AC=1;AF=0.50;AN=2;BaseQRankSum=0.467;DB;DP=21;FS=0.0;HRun=12;HaplotypeScore=74.1187;IndelType=I;MQ=60.51;MQ0=0;MQRankSum=0.779;QD=3.97;ReadPosRankSum=-0.259;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAJC13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260818 GT:AD:DP:GQ:PL 0/1:12,7:21:79.02:122,0,79
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3 132202449 rs62292953 T A 374.34 PASS AB=0.423;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.259;DB;DP=26;Dels=0.0;FS=1.657;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.401;QD=14.4;ReadPosRankSum=0.104;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAJC13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464766 GT:AD:DP:GQ:PL 0/1:11,15:26:99:404,0,341
3 132217957 rs78526588 T G 613.45 PASS AB=0.421;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.414;DB;DP=38;Dels=0.0;FS=3.592;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.935;QD=16.14;ReadPosRankSum=-0.383;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAJC13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260818 GT:AD:DP:GQ:PL 0/1:16,22:38:99:643,0,532
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3 132218623 rs3762672 G T 2512.37 PASS AB=0.508;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.294;DB;DP=179;Dels=0.0;FS=4.578;HRun=1;HaplotypeScore=0.9832;MQ=59.74;MQ0=0;MQRankSum=0.21;QD=14.04;ReadPosRankSum=-0.7;SNPEFF_AMINO_ACID_CHANGE=A110S;SNPEFF_CODON_CHANGE=Gct/Tct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_132218578_132218652;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAJC13;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000538066 GT:AD:DP:GQ:PL 0/1:91,88:179:99:2542,0,2884
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3 132221076 rs60016025 CT C 130.94 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.714;DB;DP=27;FS=0.0;HRun=16;HaplotypeScore=182.0185;IndelType=D;MQ=55.58;MQ0=0;MQRankSum=0.671;QD=4.85;ReadPosRankSum=0.075;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DNAJC13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260818 GT:AD:DP:GQ:PL 1/1:7,14:27:12.20:172,12,0
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3 132360883 rs821572 C T 2493.44 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.22;SNPEFF_AMINO_ACID_CHANGE=R157H;SNPEFF_CODON_CHANGE=cGt/cAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_132360816_132360977;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ACAD11;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000264990 GT:AD:DP:GQ:PL 1/1:0,67:67:99:2526,184,0
3 132363527 rs1079367 T C 49.16 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=0.322;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.322;QD=6.15;ReadPosRankSum=-0.956;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=NPHP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000393156 GT:AD:DP:GQ:PL 0/1:5,3:8:79.16:79,0,179
3 132394556 rs2305629 T C 575.12 PASS AB=0.486;AC=1;AF=0.50;AN=2;BaseQRankSum=1.595;DB;DP=37;Dels=0.0;FS=1.356;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.501;QD=15.54;ReadPosRankSum=1.018;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=NPHP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326682 GT:AD:DP:GQ:PL 0/1:18,19:37:99:605,0,552
3 132401421 rs6792074 G A 430.88 PASS AB=0.44;AC=1;AF=0.50;AN=2;BaseQRankSum=0.958;DB;DP=25;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.137;QD=17.24;ReadPosRankSum=-1.396;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=UBA5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264991 GT:AD:DP:GQ:PL 0/1:11,14:25:99:461,0,373
3 132409597 rs62292469 C A 271.89 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.347;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.347;QD=13.59;ReadPosRankSum=-0.81;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=NPHP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000515289 GT:AD:DP:GQ:PL 0/1:8,12:20:99:302,0,274
3 132410202 rs2271491 A G 580.42 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=3.288;DB;DP=44;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.48;MQ0=0;MQRankSum=-1.002;QD=13.19;ReadPosRankSum=0.224;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=NPHP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326682 GT:AD:DP:GQ:PL 0/1:20,24:44:99:610,0,700
3 132410214 rs2271490 T C 598.04 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=2.398;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.5;QD=17.59;ReadPosRankSum=-0.224;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=NPHP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326682 GT:AD:DP:GQ:PL 0/1:16,18:34:99:628,0,540
3 132413941 rs10804612 A C 204.55 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=2.025;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.058;QD=13.64;ReadPosRankSum=1.447;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=NPHP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469232 GT:AD:DP:GQ:PL 0/1:8,7:15:99:235,0,265
3 132415424 rs76177059 T C 181.44 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.633;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.036;QD=18.14;ReadPosRankSum=1.447;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=NPHP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469232 GT:AD:DP:GQ:PL 0/1:4,6:10:99:211,0,124
3 132431348 rs111819704 C T 443.86 PASS AB=0.528;AC=1;AF=0.50;AN=2;BaseQRankSum=3.517;DB;DP=36;Dels=0.0;FS=1.83;HRun=0;HaplotypeScore=0.9997;MQ=59.23;MQ0=0;MQRankSum=-1.299;QD=12.33;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=NPHP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326682 GT:AD:DP:GQ:PL 0/1:19,17:36:99:474,0,528
3 132431380 rs62292473 G C 408 PASS AB=0.519;AC=1;AF=0.50;AN=2;BaseQRankSum=0.667;DB;DP=27;Dels=0.0;FS=3.188;HRun=1;HaplotypeScore=0.0;MQ=58.97;MQ0=0;MQRankSum=-0.205;QD=15.11;ReadPosRankSum=-0.154;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=NPHP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326682 GT:AD:DP:GQ:PL 0/1:14,13:27:99:438,0,394
3 132434156 rs17414558 T C 149.44 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.163;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.097;QD=10.67;ReadPosRankSum=0.452;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=NPHP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343113 GT:AD:DP:GQ:PL 0/1:8,6:14:99:179,0,289
3 132435823 rs11718115 C T 386.04 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=2.931;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=12.87;ReadPosRankSum=0.686;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=NPHP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343113 GT:AD:DP:GQ:PL 0/1:16,14:30:99:416,0,413
3 132437034 rs62292475 A G 174.10 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.718;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.779;QD=14.51;ReadPosRankSum=0.259;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=NPHP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000383282 GT:AD:DP:GQ:PL 0/1:6,6:12:99:204,0,197
3 132438301 rs3860503 T C 43.44 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=14.48;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=NPHP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000383282 GT:AD:DP:GQ:PL 0/1:1,2:3:33.62:73,0,34
3 132441268 rs13099099 T C 77.70 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.731;DB;DP=5;Dels=0.0;FS=6.99;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.731;QD=15.54;ReadPosRankSum=0.731;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=NPHP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000383282 GT:AD:DP:GQ:PL 0/1:1,4:5:19.33:108,0,19
3 133099245 rs1197314 G A 383.32 PASS AB=0.644;AC=1;AF=0.50;AN=2;BaseQRankSum=1.362;DB;DP=45;Dels=0.0;FS=1.263;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.768;QD=8.52;ReadPosRankSum=-1.906;SNPEFF_AMINO_ACID_CHANGE=P230;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_133098596_133100005;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TMEM108;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000321871 GT:AD:DP:GQ:PL 0/1:29,16:45:99:413,0,889
3 133108978 rs1197296 A G 1409.21 PASS AB=0.566;AC=1;AF=0.50;AN=2;BaseQRankSum=-7.06;DB;DP=136;Dels=0.0;FS=6.261;HRun=0;HaplotypeScore=1.9783;MQ=59.32;MQ0=0;MQRankSum=0.481;QD=10.36;ReadPosRankSum=-0.548;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TMEM108;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000515826 GT:AD:DP:GQ:PL 0/1:77,59:136:99:1439,0,2543
3 133114513 rs1197301 A C 39.20 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=55.16;MQ0=0;MQRankSum=-1.026;QD=9.8;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TMEM108;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000321871 GT:AD:DP:GQ:PL 0/1:2,2:4:69.20:69,0,71
3 133114893 rs1197300 C T 510.56 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.03;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TMEM108;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000511388 GT:AD:DP:GQ:PL 1/1:0,17:17:39.13:544,39,0
3 133166403 rs7644197 A G 48.72 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BFSP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302334 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:80,6,0
3 133185521 rs72302916 C CAAAA 322.54 PASS AC=2;AF=1.00;AN=2;DB;DP=12;FS=0.0;HRun=20;HaplotypeScore=210.7852;IndelType=I;MQ=35.98;MQ0=0;QD=26.88;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BFSP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302334 GT:AD:DP:GQ:PL 1/1:4,1:12:26.26:365,26,0
3 133185834 rs2737717 T C 256.49 PASS AB=0.621;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.211;DB;DP=29;Dels=0.0;FS=1.974;HRun=2;HaplotypeScore=0.0;MQ=57.41;MQ0=0;MQRankSum=1.364;QD=8.84;ReadPosRankSum=-1.176;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BFSP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302334 GT:AD:DP:GQ:PL 0/1:18,11:29:99:286,0,623
3 133185848 rs10589008 ACT A 399.18 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.989;DB;DP=24;FS=0.0;HRun=0;HaplotypeScore=112.8875;IndelType=D;MQ=56.85;MQ0=0;MQRankSum=-0.824;QD=16.63;ReadPosRankSum=0.824;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BFSP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302334 GT:AD:DP:GQ:PL 0/1:12,12:24:99:438,0,474
3 133191385 rs79087781 C A 178.67 PASS AB=0.3;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.422;DB;DP=10;Dels=0.0;FS=2.808;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.001;QD=17.87;ReadPosRankSum=-0.573;SNPEFF_AMINO_ACID_CHANGE=A407D;SNPEFF_CODON_CHANGE=gCc/gAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_133191189_133191409;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BFSP2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000302334 GT:AD:DP:GQ:PL 0/1:3,7:10:97.10:209,0,97
3 133191453 rs7628499 A G 34.59 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=1.495;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.922;QD=4.94;ReadPosRankSum=-0.198;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BFSP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000511434 GT:AD:DP:GQ:PL 0/1:5,2:7:64.58:65,0,185
3 133329943 rs1444601 G A 2056.77 PASS AB=0.535;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.624;DB;DP=155;Dels=0.0;FS=19.997;HRun=2;HaplotypeScore=3.0845;MQ=59.85;MQ0=0;MQRankSum=1.087;QD=13.27;ReadPosRankSum=-0.381;SNPEFF_AMINO_ACID_CHANGE=L1360;SNPEFF_CODON_CHANGE=Ctg/Ttg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_133329848_133329985;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TOPBP1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000260810 GT:AD:DP:GQ:PL 0/1:83,72:155:99:2087,0,2798
3 133335787 rs3732574 C T 664.23 PASS AB=0.432;AC=1;AF=0.50;AN=2;BaseQRankSum=2.109;DB;DP=44;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.99;QD=15.1;ReadPosRankSum=0.711;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TOPBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000513818 GT:AD:DP:GQ:PL 0/1:19,25:44:99:694,0,603
3 133338862 rs4854588 A C 81.18 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=16.24;ReadPosRankSum=0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TOPBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260810 GT:AD:DP:GQ:PL 0/1:2,3:5:67.83:111,0,68
3 133339340 rs2887747 A G 130.43 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=2.637;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.143;QD=11.86;ReadPosRankSum=2.181;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TOPBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260810 GT:AD:DP:GQ:PL 0/1:6,5:11:99:160,0,212
3 133341988 rs10935070 T C 1025.38 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=0.646;DB;DP=63;Dels=0.0;FS=1.037;HRun=0;HaplotypeScore=0.9916;MQ=60.0;MQ0=0;MQRankSum=0.479;QD=16.28;ReadPosRankSum=-0.604;SNPEFF_AMINO_ACID_CHANGE=N1042S;SNPEFF_CODON_CHANGE=aAt/aGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_133341935_133342037;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TOPBP1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000260810 GT:AD:DP:GQ:PL 0/1:27,36:63:99:1055,0,747
3 133347034 rs1550742 T C 60.65 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9992;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=12.13;ReadPosRankSum=-0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TOPBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260810 GT:AD:DP:GQ:PL 0/1:2,3:5:66.85:91,0,67
3 133362345 rs139038309 T C 188.62 PASS AB=0.385;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.927;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.437;QD=14.51;ReadPosRankSum=1.855;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TOPBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000509162 GT:AD:DP:GQ:PL 0/1:5,8:13:99:219,0,168
3 133368362 rs3192149 T G 2668.48 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=5.652;DB;DP=182;Dels=0.0;FS=15.903;HRun=0;HaplotypeScore=1.2434;MQ=59.87;MQ0=0;MQRankSum=-0.447;QD=14.66;ReadPosRankSum=1.382;SNPEFF_AMINO_ACID_CHANGE=K457Q;SNPEFF_CODON_CHANGE=Aag/Cag;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_133368227_133368477;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TOPBP1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000260810 GT:AD:DP:GQ:PL 0/1:98,84:182:99:2698,0,2959
3 133374030 rs7639941 T C 245.30 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.66;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TOPBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260810 GT:AD:DP:GQ:PL 1/1:0,8:8:21.06:278,21,0
3 133375785 rs2718801 G A 3484.79 PASS AC=2;AF=1.00;AN=2;DB;DP=98;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.4972;MQ=59.76;MQ0=0;QD=35.56;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TOPBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260810 GT:AD:DP:GQ:PL 1/1:0,97:98:99:3485,274,0
3 133377782 rs2718804 G A 450.94 PASS AB=0.515;AC=1;AF=0.50;AN=2;BaseQRankSum=3.728;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9979;MQ=58.73;MQ0=0;MQRankSum=-0.847;QD=13.66;ReadPosRankSum=-1.459;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TOPBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260810 GT:AD:DP:GQ:PL 0/1:17,16:33:99:481,0,459
3 133380130 rs2718805 T C 206.38 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.48;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=TOPBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260810 GT:AD:DP:GQ:PL 1/1:0,7:7:18.06:239,18,0
3 133465283 rs1130459 A G 40.99 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.026;QD=10.25;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466911 GT:AD:DP:GQ:PL 0/1:2,2:4:35.74:71,0,36
3 133473625 rs8177220 G T 397.95 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.894;DB;DP=31;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.062;QD=12.84;ReadPosRankSum=0.478;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000414694 GT:AD:DP:GQ:PL 0/1:14,16:31:99:428,0,492
3 133475563 rs4241357 G T 339.10 PASS AB=0.478;AC=1;AF=0.50;AN=2;BaseQRankSum=1.262;DB;DP=23;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.569;QD=14.74;ReadPosRankSum=-0.4;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000414694 GT:AD:DP:GQ:PL 0/1:11,12:23:99:369,0,364
3 133475722 rs1799852 C T 1271.81 PASS AB=0.483;AC=1;AF=0.50;AN=2;BaseQRankSum=1.515;DB;DP=89;Dels=0.0;FS=9.037;HRun=1;HaplotypeScore=3.3607;MQ=59.48;MQ0=0;MQRankSum=-0.276;QD=14.29;ReadPosRankSum=-2.101;SNPEFF_AMINO_ACID_CHANGE=L120;SNPEFF_CODON_CHANGE=Ctg/Ttg;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_133475675_133475853;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TF;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000264998 GT:AD:DP:GQ:PL 0/1:43,46:89:99:1302,0,1323
3 133475812 rs1799899 G A 827.14 PASS AB=0.456;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.257;DB;DP=57;Dels=0.0;FS=20.827;HRun=0;HaplotypeScore=1.5115;MQ=59.19;MQ0=0;MQRankSum=0.435;QD=14.51;ReadPosRankSum=0.123;SNPEFF_AMINO_ACID_CHANGE=G150S;SNPEFF_CODON_CHANGE=Ggc/Agc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_133475675_133475853;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TF;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000264998 GT:AD:DP:GQ:PL 0/1:26,31:57:99:857,0,864
3 133476421 rs8177237 C G 50.05 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.02;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000414694 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
3 133477821 rs190085055 A C 303.27 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.135;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.591;QD=11.66;ReadPosRankSum=1.569;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000414694 GT:AD:DP:GQ:PL 0/1:14,12:26:99:333,0,502
3 133483696 rs1880669 T C 1643.10 PASS AB=0.354;AC=1;AF=0.50;AN=2;BaseQRankSum=1.267;DB;DP=96;Dels=0.0;FS=2.903;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.085;QD=17.12;ReadPosRankSum=1.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264998 GT:AD:DP:GQ:PL 0/1:34,62:96:99:1673,0,949
3 133485133 rs2692696 A G 4696.71 PASS AC=2;AF=1.00;AN=2;DB;DP=130;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=59.82;MQ0=0;QD=36.13;SNPEFF_AMINO_ACID_CHANGE=I321V;SNPEFF_CODON_CHANGE=Ata/Gta;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_133485122_133485277;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TF;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000264998 GT:AD:DP:GQ:PL 1/1:0,130:130:99:4697,346,0
3 133485371 rs1525891 G C 415.26 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.24;DB;DP=45;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.229;QD=9.23;ReadPosRankSum=0.494;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264998 GT:AD:DP:GQ:PL 0/1:30,15:45:99:445,0,1031
3 133486958 rs8649 G C 960.26 PASS AB=0.478;AC=1;AF=0.50;AN=2;BaseQRankSum=0.738;DB;DP=67;Dels=0.0;FS=2.337;HRun=0;HaplotypeScore=1.9748;MQ=60.0;MQ0=0;MQRankSum=0.327;QD=14.33;ReadPosRankSum=-0.481;SNPEFF_AMINO_ACID_CHANGE=L397;SNPEFF_CODON_CHANGE=ctG/ctC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_133486873_133487008;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TF;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000264998 GT:AD:DP:GQ:PL 0/1:32,35:67:99:990,0,998
3 133489583 rs1525890 G A 38.51 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.21;MQ0=0;MQRankSum=0.358;QD=7.7;ReadPosRankSum=0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264998 GT:AD:DP:GQ:PL 0/1:3,2:5:66.59:69,0,67
3 133494529 rs1880668 C A 236.51 PASS AB=0.655;AC=1;AF=0.50;AN=2;BaseQRankSum=2.409;DB;DP=29;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9983;MQ=60.0;MQ0=0;MQRankSum=-0.161;QD=8.16;ReadPosRankSum=-1.675;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462495 GT:AD:DP:GQ:PL 0/1:19,10:29:99:267,0,642
3 133526670 . A G 779.33 PASS AB=0.349;AC=1;AF=0.50;AN=2;BaseQRankSum=0.497;DP=43;Dels=0.0;FS=3.084;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.115;QD=18.12;ReadPosRankSum=1.669;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SRPRB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484684 GT:AD:DP:GQ:PL 0/1:15,28:43:99:809,0,433
3 133553527 rs2280672 C T 1267.89 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.22;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RAB6B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460865 GT:AD:DP:GQ:PL 1/1:0,36:36:99:1301,99,0
3 133556964 rs67302117 ACCGTGCCGGGCC A 1508.75 PASS AB=0.704;AC=1;AF=0.50;AN=2;BaseQRankSum=5.464;DB;DP=50;FS=1.786;HRun=0;HaplotypeScore=528.0433;IndelType=D;MQ=51.66;MQ0=0;MQRankSum=-3.847;QD=30.18;ReadPosRankSum=-0.378;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RAB6B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460865 GT:AD:DP:GQ:PL 0/1:29,21:50:99:1548,0,3385
3 133583577 rs3811646 C T 182.84 PASS AB=0.65;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.585;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.317;QD=9.14;ReadPosRankSum=0.079;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RAB6B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000285208 GT:AD:DP:GQ:PL 0/1:13,7:20:99:213,0,468
3 133661352 rs3923834 G T 186.85 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.14;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLCO2A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310926 GT:AD:DP:GQ:PL 1/1:0,6:6:18.05:220,18,0
3 133666209 rs34550074 C T 891 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.39;MQ0=0;QD=30.72;SNPEFF_AMINO_ACID_CHANGE=A320T;SNPEFF_CODON_CHANGE=Gcc/Acc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_133666100_133666289;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLCO2A1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000493729 GT:AD:DP:GQ:PL 1/1:0,29:29:72.22:924,72,0
3 133667646 rs55943046 C T 1116.37 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.17;MQ0=0;QD=39.87;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLCO2A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464676 GT:AD:DP:GQ:PL 1/1:0,28:28:84.28:1149,84,0
3 133670073 rs6767412 T C 2719.66 PASS AC=2;AF=1.00;AN=2;DB;DP=77;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9999;MQ=60.0;MQ0=0;QD=35.32;SNPEFF_AMINO_ACID_CHANGE=R204;SNPEFF_CODON_CHANGE=cgA/cgG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_133670052_133670188;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLCO2A1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000493729 GT:AD:DP:GQ:PL 1/1:0,77:77:99:2753,208,0
3 133670225 rs6767522 T C 1127.08 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.126;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.52;MQ=60.0;MQ0=0;MQRankSum=-0.606;QD=27.49;ReadPosRankSum=-1.126;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLCO2A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478651 GT:AD:DP:GQ:PL 1/1:1,40:41:67.72:1160,68,0
3 133670391 rs4854769 A C 38.36 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=49.84;MQ0=0;QD=19.18;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLCO2A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478651 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:70,6,0
3 133692497 rs4634113 A G 462.40 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.39;MQ0=0;QD=27.2;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLCO2A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310926 GT:AD:DP:GQ:PL 1/1:0,17:17:36.12:495,36,0
3 133692743 rs4241362 C T 164.67 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.93;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLCO2A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310926 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:197,15,0
3 133698280 rs4640563 C G 3859.34 PASS AC=2;AF=1.00;AN=2;DB;DP=113;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9332;MQ=60.0;MQ0=0;QD=34.15;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLCO2A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478662 GT:AD:DP:GQ:PL 1/1:0,113:113:99:3859,292,0
3 133877825 rs4280635 C T 51.16 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RYK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296084 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
3 133894390 rs9858000 G A 1286.05 PASS AB=0.453;AC=1;AF=0.50;AN=2;BaseQRankSum=3.947;DB;DP=86;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.78;MQ0=0;MQRankSum=-0.41;QD=14.95;ReadPosRankSum=0.154;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=RYK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481382 GT:AD:DP:GQ:PL 0/1:39,47:86:99:1316,0,1228
3 134071042 rs6439477 C T 145.16 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=1.652;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9469;MQ=60.0;MQ0=0;MQRankSum=0.361;QD=16.13;ReadPosRankSum=-0.361;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AMOTL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000249883 GT:AD:DP:GQ:PL 0/1:4,5:9:99:175,0,119
3 134075326 rs9450 G C 88.86 PASS AB=0.769;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.978;DB;DP=26;Dels=0.0;FS=6.812;HRun=1;HaplotypeScore=0.5784;MQ=59.11;MQ0=0;MQRankSum=-0.7;QD=3.42;ReadPosRankSum=-0.761;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AMOTL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000513145 GT:AD:DP:GQ:PL 0/1:20,6:26:99:119,0,709
3 134080661 rs1077718 A G 47.39 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.69;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AMOTL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000249883 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
3 134084727 rs139298691 C T 742.02 PASS AB=0.483;AC=1;AF=0.50;AN=2;BaseQRankSum=2.755;DB;DP=58;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=59.6;MQ0=0;MQRankSum=-0.361;QD=12.79;ReadPosRankSum=-0.115;SNPEFF_AMINO_ACID_CHANGE=R404H;SNPEFF_CODON_CHANGE=cGc/cAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_134084659_134084751;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AMOTL2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000249883 GT:AD:DP:GQ:PL 0/1:28,30:58:99:772,0,798
3 134085070 rs138993919 GAAGT G 5217.79 PASS AB=0.68;AC=1;AF=0.50;AN=2;BaseQRankSum=11.637;DB;DP=228;FS=1.175;HRun=0;HaplotypeScore=1067.1116;IndelType=D;MQ=57.59;MQ0=1;MQRankSum=-1.74;QD=22.79;ReadPosRankSum=-0.867;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AMOTL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000504234 GT:AD:DP:GQ:PL 0/1:121,108:228:99:5218,0,8632
3 134085370 rs7613066 G A 259.20 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=0.495;DB;DP=14;Dels=0.0;FS=5.441;HRun=1;HaplotypeScore=0.0;MQ=56.62;MQ0=0;MQRankSum=-1.626;QD=18.51;ReadPosRankSum=0.071;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AMOTL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000502491 GT:AD:DP:GQ:PL 0/1:4,10:14:99:289,0,127
3 134086207 rs1466827 G A 586.59 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.55;MQ0=0;QD=36.66;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AMOTL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000502491 GT:AD:DP:GQ:PL 1/1:0,16:16:48.15:620,48,0
3 134128643 rs7431009 T C 204.67 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.24;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AC010207.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408386 GT:AD:DP:GQ:PL 1/1:0,7:7:18.06:238,18,0
3 134213981 rs17694011 T C 172.90 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.573;DB;DP=9;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=57.39;MQ0=0;MQRankSum=1.422;QD=19.21;ReadPosRankSum=1.001;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEP63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000332047 GT:AD:DP:GQ:PL 0/1:3,6:9:95.22:203,0,95
3 134214042 rs62269547 T C 325.87 PASS AB=0.474;AC=1;AF=0.50;AN=2;BaseQRankSum=0.612;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.286;QD=17.15;ReadPosRankSum=-0.204;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEP63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000332047 GT:AD:DP:GQ:PL 0/1:9,10:19:99:356,0,315
3 134226159 rs6766818 C T 271.19 PASS AB=0.645;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.122;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=58.64;MQ0=0;MQRankSum=1.342;QD=8.75;ReadPosRankSum=-1.166;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEP63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000512894 GT:AD:DP:GQ:PL 0/1:20,11:31:99:301,0,686
3 134256159 rs12634127 A G 357.96 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=0.11;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7885;MQ=60.0;MQ0=0;MQRankSum=0.329;QD=11.93;ReadPosRankSum=-1.074;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEP63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000504013 GT:AD:DP:GQ:PL 0/1:14,16:30:99:388,0,458
3 134264859 rs1357762 A C 111.62 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=1.159;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9996;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=12.4;ReadPosRankSum=1.881;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEP63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000332047 GT:AD:DP:GQ:PL 0/1:5,4:9:99:142,0,180
3 134266124 rs12637751 A G 156.56 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.89;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.421;QD=8.7;ReadPosRankSum=0.328;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEP63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000332047 GT:AD:DP:GQ:PL 0/1:12,6:18:99:187,0,422
3 134266148 rs12632372 G C 822.18 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEP63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000332047 GT:AD:DP:GQ:PL 1/1:0,22:22:63.20:855,63,0
3 134266321 rs11927068 A G 353.90 PASS AB=0.519;AC=1;AF=0.50;AN=2;BaseQRankSum=2.208;DB;DP=27;Dels=0.0;FS=4.869;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.024;QD=13.11;ReadPosRankSum=0.995;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEP63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000332047 GT:AD:DP:GQ:PL 0/1:14,13:27:99:384,0,499
3 134266447 rs28702610 T G 33.23 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9665;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=8.31;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEP63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000332047 GT:AD:DP:GQ:PL 0/1:2,2:4:63.22:63,0,71
3 134277195 rs35934324 A AT 206.79 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.799;DB;DP=20;FS=0.0;HRun=6;HaplotypeScore=40.9181;IndelType=I;MQ=60.54;MQ0=0;MQRankSum=-0.044;QD=10.34;ReadPosRankSum=-2.177;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEP63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000513295 GT:AD:DP:GQ:PL 0/1:12,8:20:99:246,0,250
3 134280395 rs6777283 T A 504.54 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.04;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEP63;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354446 GT:AD:DP:GQ:PL 1/1:0,14:14:39.13:538,39,0
3 134322742 rs2293293 A G 1015.03 PASS AB=0.486;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.276;DB;DP=72;Dels=0.0;FS=1.998;HRun=0;HaplotypeScore=0.8667;MQ=59.68;MQ0=0;MQRankSum=1.127;QD=14.1;ReadPosRankSum=-0.958;SNPEFF_AMINO_ACID_CHANGE=L534;SNPEFF_CODON_CHANGE=ctT/ctC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_134321980_134323316;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KY;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000508956 GT:AD:DP:GQ:PL 0/1:35,37:72:99:1045,0,1175
3 134322814 rs2293294 G C 1312.98 PASS AB=0.505;AC=1;AF=0.50;AN=2;BaseQRankSum=1.641;DB;DP=95;Dels=0.0;FS=2.675;HRun=2;HaplotypeScore=1.9155;MQ=60.0;MQ0=0;MQRankSum=0.19;QD=13.82;ReadPosRankSum=-1.44;SNPEFF_AMINO_ACID_CHANGE=G510;SNPEFF_CODON_CHANGE=ggC/ggG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_134321980_134323316;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KY;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000508956 GT:AD:DP:GQ:PL 0/1:48,47:95:99:1343,0,1404
3 134323156 rs4955535 A G 1348.40 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.45;MQ0=0;QD=32.1;SNPEFF_AMINO_ACID_CHANGE=F396;SNPEFF_CODON_CHANGE=ttT/ttC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_134321980_134323316;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KY;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000508956 GT:AD:DP:GQ:PL 1/1:0,42:42:99:1381,117,0
3 134328864 rs4245905 C T 247.63 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.38;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KY;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000508041 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:281,21,0
3 134344182 rs4435682 C T 50.63 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=EPHB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460895 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
3 134369716 rs13060869 C A 309.56 PASS AB=0.52;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.462;DB;DP=25;Dels=0.0;FS=4.222;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.897;QD=12.38;ReadPosRankSum=-1.006;SNPEFF_AMINO_ACID_CHANGE=T29;SNPEFF_CODON_CHANGE=acG/acT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_134369667_134369864;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KY;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000310263 GT:AD:DP:GQ:PL 0/1:13,12:25:99:340,0,442
3 134514579 rs9852662 T C 1502.54 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.13;MQ0=0;QD=25.47;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=EPHB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398015 GT:AD:DP:GQ:PL 1/1:0,59:59:99:1536,135,0
3 134825512 rs3732567 G C 557.44 PASS AB=0.509;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.386;DB;DP=55;Dels=0.0;FS=8.963;HRun=0;HaplotypeScore=1.367;MQ=59.66;MQ0=0;MQRankSum=1.153;QD=10.14;ReadPosRankSum=-0.817;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=EPHB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398015 GT:AD:DP:GQ:PL 0/1:28,27:55:99:587,0,940
3 134852051 rs1525014 C A 162.54 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.51;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=EPHB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000482618 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:195,15,0
3 134880745 rs2270882 G T 327.51 PASS AB=0.412;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.83;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.244;QD=19.27;ReadPosRankSum=0.732;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=EPHB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398015 GT:AD:DP:GQ:PL 0/1:7,10:17:99:358,0,238
3 134898742 rs3732566 C T 4595.17 PASS AC=2;AF=1.00;AN=2;DB;DP=133;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;QD=34.55;SNPEFF_AMINO_ACID_CHANGE=Y161;SNPEFF_CODON_CHANGE=taC/taT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_134898702_134898824;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=EPHB1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000493838 GT:AD:DP:GQ:PL 1/1:0,133:133:99:4595,334,0
3 134967152 . C A 834.25 PASS AB=0.613;AC=1;AF=0.50;AN=2;BaseQRankSum=1.419;DP=80;Dels=0.0;FS=6.418;HRun=1;HaplotypeScore=0.0;MQ=59.19;MQ0=0;MQRankSum=1.276;QD=10.43;ReadPosRankSum=1.327;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=EPHB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398015 GT:AD:DP:GQ:PL 0/1:49,31:80:99:864,0,1346
3 134968465 rs4243397 T C 469.08 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.78;MQ0=0;QD=24.69;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=EPHB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398015 GT:AD:DP:GQ:PL 1/1:0,19:19:45.11:502,45,0
3 134968574 rs4243398 T A 118.66 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.731;QD=23.73;ReadPosRankSum=0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=EPHB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000398015 GT:AD:DP:GQ:PL 0/1:1,4:5:26.71:149,0,27
3 135720241 rs4678432 T C 136.17 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.103;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.676;QD=13.62;ReadPosRankSum=0.103;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPP2R3A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000490467 GT:AD:DP:GQ:PL 0/1:5,5:10:99:166,0,167
3 135720851 rs6779903 G T 813.92 PASS AB=0.381;AC=1;AF=0.50;AN=2;BaseQRankSum=2.448;DB;DP=42;Dels=0.0;FS=2.913;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.101;QD=19.38;ReadPosRankSum=-1.023;SNPEFF_AMINO_ACID_CHANGE=A171S;SNPEFF_CODON_CHANGE=Gcc/Tcc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_135719901_135722335;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPP2R3A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000264977 GT:AD:DP:GQ:PL 0/1:16,26:42:99:844,0,489
3 135742057 rs113986045 G GTGTTTTGTTT 758.04 PASS AB=0.875;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.932;DB;DP=42;FS=0.0;HRun=0;HaplotypeScore=317.3022;IndelType=I;MQ=54.5;MQ0=0;MQRankSum=-0.555;QD=18.05;ReadPosRankSum=-1.506;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPP2R3A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264977 GT:AD:DP:GQ:PL 0/1:36,4:42:99:797,0,989
3 135759669 rs3832193 T TG 144.04 PASS AB=0.688;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.532;DB;DP=11;FS=0.0;HRun=2;HaplotypeScore=25.4703;IndelType=I;MQ=60.0;MQ0=0;MQRankSum=-0.387;QD=13.09;ReadPosRankSum=1.408;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPP2R3A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264977 GT:AD:DP:GQ:PL 0/1:6,5:11:99:183,0,180
3 135822011 rs75262249 A G 369.46 PASS AB=0.476;AC=1;AF=0.50;AN=2;BaseQRankSum=2.711;DB;DP=21;Dels=0.0;FS=6.69;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.035;QD=17.59;ReadPosRankSum=0.951;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPP2R3A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264977 GT:AD:DP:GQ:PL 0/1:10,11:21:99:399,0,310
3 135913665 rs1992952 A G 1132.64 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.81;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MSL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309993 GT:AD:DP:GQ:PL 1/1:0,38:38:99:1166,102,0
3 136002809 rs3821445 T C 314.80 PASS AB=0.577;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.595;DB;DP=27;Dels=0.0;FS=3.078;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.297;QD=11.66;ReadPosRankSum=-0.208;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PCCB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000459873 GT:AD:DP:GQ:PL 0/1:15,11:27:99:345,0,517
3 136035737 rs9833162 A G 429.16 PASS AB=0.543;AC=1;AF=0.50;AN=2;BaseQRankSum=0.569;DB;DP=35;Dels=0.0;FS=1.713;HRun=0;HaplotypeScore=1.6828;MQ=59.34;MQ0=0;MQRankSum=0.017;QD=12.26;ReadPosRankSum=-1.57;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PCCB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000251654 GT:AD:DP:GQ:PL 0/1:19,16:35:99:459,0,620
3 136057142 rs112518519 AATT A 1233.20 PASS AB=0.659;AC=1;AF=0.50;AN=2;BaseQRankSum=6.017;DB;DP=58;FS=7.747;HRun=0;HaplotypeScore=222.3874;IndelType=D;MQ=56.85;MQ0=0;MQRankSum=-2.166;QD=21.26;ReadPosRankSum=-0.519;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PCCB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471595 GT:AD:DP:GQ:PL 0/1:28,30:58:99:1272,0,1640
3 136059537 rs503973 G C 491.40 PASS AB=0.543;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.414;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.3123;MQ=58.67;MQ0=0;MQRankSum=-0.149;QD=14.04;ReadPosRankSum=0.679;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PCCB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471595 GT:AD:DP:GQ:PL 0/1:19,16:35:99:521,0,676
3 136060139 rs477142 A G 145.03 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.01;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PCCB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471595 GT:AD:DP:GQ:PL 1/1:0,5:5:15.04:178,15,0
3 136067778 rs696516 G T 36.08 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=47.12;MQ0=0;QD=18.04;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STAG1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236698 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:67,6,0
3 136088038 rs9860801 G A 562.89 PASS AB=0.511;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.007;DB;DP=45;Dels=0.0;FS=2.649;HRun=2;HaplotypeScore=0.5784;MQ=59.49;MQ0=0;MQRankSum=0.692;QD=12.51;ReadPosRankSum=-0.27;SNPEFF_AMINO_ACID_CHANGE=F403;SNPEFF_CODON_CHANGE=ttC/ttT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_136087950_136088124;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STAG1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000536929 GT:AD:DP:GQ:PL 0/1:23,22:45:99:593,0,708
3 136139878 rs9819496 G A 442.68 PASS AB=0.517;AC=1;AF=0.50;AN=2;BaseQRankSum=1.942;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.5661;MQ=59.2;MQ0=0;MQRankSum=-0.327;QD=15.26;ReadPosRankSum=-2.379;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STAG1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236698 GT:AD:DP:GQ:PL 0/1:15,14:29:99:473,0,436
3 136196028 rs16843991 T C 144.29 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=0.831;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.244;QD=12.02;ReadPosRankSum=1.461;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STAG1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236698 GT:AD:DP:GQ:PL 0/1:7,5:12:99:174,0,250
3 136196071 rs1394092 C T 283.71 PASS AB=0.478;AC=1;AF=0.50;AN=2;BaseQRankSum=1.077;DB;DP=23;Dels=0.0;FS=4.993;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=-0.4;QD=12.34;ReadPosRankSum=0.092;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STAG1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236698 GT:AD:DP:GQ:PL 0/1:11,12:23:99:314,0,393
3 136218930 rs900048 C T 49.83 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.92;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=STAG1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236698 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
3 136667405 rs1048145 T C 35.47 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.72;QD=5.91;ReadPosRankSum=-0.72;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NCK1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467911 GT:AD:DP:GQ:PL 0/1:4,2:6:65.46:65,0,144
3 136677064 rs6773440 A G 597.72 PASS AB=0.514;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.076;DB;DP=37;Dels=0.0;FS=2.191;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.048;QD=16.15;ReadPosRankSum=-1.93;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=IL20RB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309741 GT:AD:DP:GQ:PL 0/1:19,18:37:99:628,0,644
3 136728886 rs361235 G T 265.76 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.358;DB;DP=24;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.596;QD=11.07;ReadPosRankSum=-1.312;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=IL20RB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309741 GT:AD:DP:GQ:PL 0/1:15,9:24:99:296,0,546
3 136739387 rs63332362 CT C 437.57 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=4.933;DB;DP=35;FS=1.421;HRun=1;HaplotypeScore=137.3163;IndelType=D;MQ=60.31;MQ0=0;MQRankSum=-0.724;QD=12.5;ReadPosRankSum=1.128;SNPEFF_EFFECT=INTERGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 0/1:21,14:35:99:477,0,903
3 136739406 rs1385306 C G 409.46 PASS AB=0.537;AC=1;AF=0.50;AN=2;BaseQRankSum=3.575;DB;DP=41;Dels=0.0;FS=1.243;HRun=1;HaplotypeScore=0.0;MQ=60.26;MQ0=0;MQRankSum=0.15;QD=9.99;ReadPosRankSum=0.15;SNPEFF_EFFECT=INTERGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 0/1:22,19:41:99:439,0,653
3 137717991 rs6764398 G C 349.35 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.11;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLDN18;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000343735 GT:AD:DP:GQ:PL 1/1:0,12:12:30.09:382,30,0
3 137743508 rs17204075 A T 917.16 PASS AB=0.537;AC=1;AF=0.50;AN=2;BaseQRankSum=0.704;DB;DP=67;Dels=0.0;FS=2.257;HRun=1;HaplotypeScore=0.8321;MQ=59.66;MQ0=0;MQRankSum=-0.691;QD=13.69;ReadPosRankSum=-0.151;SNPEFF_AMINO_ACID_CHANGE=M138L;SNPEFF_CODON_CHANGE=Atg/Ttg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_137743449_137743566;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLDN18;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000536138 GT:AD:DP:GQ:PL 0/1:36,31:67:99:947,0,1139
3 137748586 rs41265451 G A 36.44 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.22;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLDN18;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000183605 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:68,6,0
3 137749839 rs16847742 A G 1911.82 PASS AB=0.541;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.091;DB;DP=172;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.6828;MQ=59.87;MQ0=0;MQRankSum=0.629;QD=11.12;ReadPosRankSum=-0.432;SNPEFF_AMINO_ACID_CHANGE=S203;SNPEFF_CODON_CHANGE=tcA/tcG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_137749812_137750097;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLDN18;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000536138 GT:AD:DP:GQ:PL 0/1:93,79:172:99:1942,0,3049
3 137750056 rs55923693 T C 460.62 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=2.606;DB;DP=24;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.263;QD=19.19;ReadPosRankSum=-0.381;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLDN18;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000183605 GT:AD:DP:GQ:PL 0/1:10,14:24:99:491,0,311
3 137781923 rs329388 A C 270.98 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DZIP1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327532 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:304,24,0
3 137783700 rs179282 T C 475.20 PASS AB=0.633;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.529;DB;DP=49;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.53;MQ0=0;MQRankSum=1.13;QD=9.7;ReadPosRankSum=1.317;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DZIP1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469243 GT:AD:DP:GQ:PL 0/1:31,18:49:99:505,0,1086
3 137786442 rs442800 T C 331.96 PASS AB=0.581;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.822;DB;DP=31;Dels=0.0;FS=1.44;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.181;QD=10.71;ReadPosRankSum=-0.42;SNPEFF_AMINO_ACID_CHANGE=K645E;SNPEFF_CODON_CHANGE=Aag/Gag;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_137786373_137786542;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DZIP1L;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000327532 GT:AD:DP:GQ:PL 0/1:18,13:31:99:362,0,604
3 137787047 rs374045 C T 336.30 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.42;SNPEFF_AMINO_ACID_CHANGE=R593H;SNPEFF_CODON_CHANGE=cGc/cAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_137786993_137787209;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DZIP1L;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000327532 GT:AD:DP:GQ:PL 1/1:0,14:15:33.08:369,33,0
3 137787192 rs446644 T C 786.60 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.13;SNPEFF_AMINO_ACID_CHANGE=T545A;SNPEFF_CODON_CHANGE=Aca/Gca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_137786993_137787209;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DZIP1L;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000327532 GT:AD:DP:GQ:PL 1/1:0,27:27:69.18:820,69,0
3 137787282 rs419075 T C 166.44 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.8245;MQ=60.0;MQ0=0;QD=20.81;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DZIP1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469243 GT:AD:DP:GQ:PL 1/1:0,8:8:18.04:199,18,0
3 137787355 rs446847 T C 157.98 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.6;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DZIP1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469243 GT:AD:DP:GQ:PL 1/1:0,5:5:15.04:191,15,0
3 137799291 rs384828 A T 338.60 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.484;DB;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.89;QD=15.39;ReadPosRankSum=0.165;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DZIP1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327532 GT:AD:DP:GQ:PL 0/1:10,12:22:99:369,0,338
3 137799498 rs405602 T C 694.81 PASS AB=0.371;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.744;DB;DP=35;Dels=0.0;FS=13.206;HRun=1;HaplotypeScore=0.9665;MQ=60.0;MQ0=0;MQRankSum=1.666;QD=19.85;ReadPosRankSum=-0.461;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DZIP1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327532 GT:AD:DP:GQ:PL 0/1:13,22:35:99:725,0,391
3 137800656 rs2622711 A G 204.76 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=0.933;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.9942;MQ=60.0;MQ0=0;MQRankSum=-0.133;QD=11.38;ReadPosRankSum=0.4;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DZIP1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327532 GT:AD:DP:GQ:PL 0/1:10,8:18:99:235,0,284
3 137807259 rs2724693 G A 437.04 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=2.852;DB;DP=35;Dels=0.0;FS=5.61;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.017;QD=12.49;ReadPosRankSum=0.787;SNPEFF_AMINO_ACID_CHANGE=R321W;SNPEFF_CODON_CHANGE=Cgg/Tgg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_137807221_137807349;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DZIP1L;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000327532 GT:AD:DP:GQ:PL 0/1:21,14:35:99:467,0,577
3 137813444 rs2622730 C T 50.63 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DZIP1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327532 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
3 137843018 rs1564496 G C 279.08 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=3.33;DB;DP=22;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=58.95;MQ0=0;MQRankSum=-1.022;QD=12.69;ReadPosRankSum=-1.286;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=A4GNT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236709 GT:AD:DP:GQ:PL 0/1:10,12:22:99:309,0,261
3 137843094 rs6794722 C T 608.35 PASS AB=0.487;AC=1;AF=0.50;AN=2;BaseQRankSum=1.038;DB;DP=39;Dels=0.0;FS=1.433;HRun=0;HaplotypeScore=0.0;MQ=59.41;MQ0=0;MQRankSum=-0.102;QD=15.6;ReadPosRankSum=1.272;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=A4GNT;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000236709 GT:AD:DP:GQ:PL 0/1:19,20:39:99:638,0,485
3 137843106 rs2170309 T C 629.88 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=1.331;DB;DP=45;Dels=0.0;FS=9.164;HRun=0;HaplotypeScore=0.9665;MQ=59.49;MQ0=0;MQRankSum=1.9;QD=14.0;ReadPosRankSum=0.398;SNPEFF_AMINO_ACID_CHANGE=*341;SNPEFF_CODON_CHANGE=taA/taG;SNPEFF_EFFECT=SYNONYMOUS_STOP;SNPEFF_EXON_ID=exon_3_137842560_137843720;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=A4GNT;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000236709 GT:AD:DP:GQ:PL 0/1:21,24:45:99:660,0,623
3 137843476 rs2246945 G T 1015.17 PASS AB=0.602;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.649;DB;DP=88;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.8136;MQ=59.74;MQ0=0;MQRankSum=-0.731;QD=11.54;ReadPosRankSum=0.394;SNPEFF_AMINO_ACID_CHANGE=A218D;SNPEFF_CODON_CHANGE=gCc/gAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_137842560_137843720;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=A4GNT;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000236709 GT:AD:DP:GQ:PL 0/1:53,35:88:99:1045,0,1714
3 137850003 rs2724691 A G 674.24 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=1.5;DB;DP=52;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9469;MQ=59.64;MQ0=0;MQRankSum=-0.972;QD=12.97;ReadPosRankSum=-0.104;SNPEFF_AMINO_ACID_CHANGE=C32;SNPEFF_CODON_CHANGE=tgT/tgC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_137849691_137850124;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=A4GNT;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000236709 GT:AD:DP:GQ:PL 0/1:28,24:52:99:704,0,873
3 137880695 rs9851548 A G 417.54 PASS AB=0.217;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.41;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9997;MQ=60.0;MQ0=0;MQRankSum=-0.932;QD=18.15;ReadPosRankSum=0.261;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DBR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460271 GT:AD:DP:GQ:PL 0/1:5,18:23:99:448,0,142
3 137880743 rs2622736 G A 1129.80 PASS AB=0.407;AC=1;AF=0.50;AN=2;BaseQRankSum=5.732;DB;DP=59;Dels=0.02;FS=1.616;HRun=0;HaplotypeScore=2.8995;MQ=59.62;MQ0=0;MQRankSum=0.455;QD=18.83;ReadPosRankSum=1.798;SNPEFF_AMINO_ACID_CHANGE=D307;SNPEFF_CODON_CHANGE=gaC/gaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_137880215_137881424;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DBR1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000505015 GT:AD:DP:GQ:PL 0/1:24,35:59:99:1160,0,659
3 137881265 rs3732839 T A 617.08 PASS AB=0.523;AC=1;AF=0.50;AN=2;BaseQRankSum=0.047;DB;DP=44;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.41;MQ0=0;MQRankSum=-0.423;QD=14.02;ReadPosRankSum=0.117;SNPEFF_AMINO_ACID_CHANGE=T133;SNPEFF_CODON_CHANGE=acA/acT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_137880215_137881424;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DBR1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000505015 GT:AD:DP:GQ:PL 0/1:23,21:44:99:647,0,765
3 137882377 rs2622734 G T 191.93 PASS AB=0.55;AC=1;AF=0.50;AN=2;BaseQRankSum=1.595;DB;DP=20;Dels=0.0;FS=3.468;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.684;QD=9.6;ReadPosRankSum=-1.823;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DBR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260803 GT:AD:DP:GQ:PL 0/1:11,9:20:99:222,0,385
3 137882752 rs2622733 A G 292.21 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=1.684;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.818;QD=17.19;ReadPosRankSum=0.144;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DBR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260803 GT:AD:DP:GQ:PL 0/1:8,9:17:99:322,0,275
3 137890750 rs811811 T C 42.85 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.026;QD=10.71;ReadPosRankSum=1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DBR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000260803 GT:AD:DP:GQ:PL 0/1:2,2:4:65.76:73,0,66
3 137893744 rs329379 G T 40.37 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.026;QD=10.09;ReadPosRankSum=1.026;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DBR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463982 GT:AD:DP:GQ:PL 0/1:2,2:4:70.37:70,0,72
3 138008140 rs3732840 T G 193.33 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.22;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARMC8;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000393058 GT:AD:DP:GQ:PL 1/1:0,6:6:18.05:226,18,0
3 138025136 rs3856636 T G 175.53 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.11;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TXNDC6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317876 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:208,15,0
3 138025396 rs9846480 A G 434.48 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.21;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TXNDC6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317876 GT:AD:DP:GQ:PL 1/1:0,12:12:36.10:467,36,0
3 138033181 rs9289556 C T 3680.33 PASS AC=2;AF=1.00;AN=2;DB;DP=118;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.8;MQ0=0;QD=31.19;SNPEFF_AMINO_ACID_CHANGE=E151;SNPEFF_CODON_CHANGE=gaG/gaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_138033174_138033249;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TXNDC6;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000333911 GT:AD:DP:GQ:PL 1/1:0,117:118:99:3680,280,0
3 138091701 rs1199333 G T 976.22 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.11;MQ0=0;QD=37.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MRAS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289104 GT:AD:DP:GQ:PL 1/1:0,26:26:75.25:1009,75,0
3 138170788 rs13095961 T G 363.18 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=57.87;MQ0=0;QD=33.02;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ESYT3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289135 GT:AD:DP:GQ:PL 1/1:0,11:11:30.10:396,30,0
3 138171042 rs4678418 C T 258.72 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.34;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ESYT3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289135 GT:AD:DP:GQ:PL 1/1:0,8:8:24.05:292,24,0
3 138173905 rs56236670 G A 941.29 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.07;MQ0=0;QD=37.65;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ESYT3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289135 GT:AD:DP:GQ:PL 1/1:0,25:25:75.21:974,75,0
3 138176533 rs66644444 A T 1351.09 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.6;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ESYT3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289135 GT:AD:DP:GQ:PL 1/1:0,35:35:99:1384,102,0
3 138179308 rs67037472 G A 1012.38 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.55;MQ0=0;QD=34.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ESYT3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289135 GT:AD:DP:GQ:PL 1/1:0,29:29:81.25:1045,81,0
3 138179328 rs6763380 C T 1686.39 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=59.16;MQ0=0;QD=33.73;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ESYT3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289135 GT:AD:DP:GQ:PL 1/1:0,50:50:99:1719,135,0
3 138180712 rs1720836 C T 186.62 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.66;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ESYT3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289135 GT:AD:DP:GQ:PL 1/1:0,7:7:18.05:219,18,0
3 138187568 rs1679167 C T 3553.06 PASS AC=2;AF=1.00;AN=2;DB;DP=102;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.59;MQ0=0;QD=34.83;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ESYT3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389567 GT:AD:DP:GQ:PL 1/1:0,102:102:99:3553,271,0
3 138189031 rs2347469 T C 625.13 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.63;MQ0=0;QD=36.77;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ESYT3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389567 GT:AD:DP:GQ:PL 1/1:0,17:17:51.16:658,51,0
3 138189658 rs3813264 A G 796.34 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;QD=31.85;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ESYT3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468103 GT:AD:DP:GQ:PL 1/1:0,24:24:60.20:829,60,0
3 138191232 rs10935282 G A 3500.39 PASS AC=2;AF=1.00;AN=2;DB;DP=107;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9962;MQ=59.35;MQ0=0;QD=32.71;SNPEFF_AMINO_ACID_CHANGE=G590R;SNPEFF_CODON_CHANGE=Ggg/Agg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_138191205_138191701;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ESYT3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000389567 GT:AD:DP:GQ:PL 1/1:0,107:107:99:3500,268,0
3 138192192 rs1679168 T C 168.08 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.01;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ESYT3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468103 GT:AD:DP:GQ:PL 1/1:0,6:6:15.05:201,15,0
3 138195529 rs1679169 C T 2171.31 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.8646;MQ=59.63;MQ0=0;QD=34.47;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=ESYT3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460325 GT:AD:DP:GQ:PL 1/1:0,63:63:99:2204,171,0
3 138213709 rs774012 T C 93.72 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.24;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEP70;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000459695 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:126,9,0
3 138289163 rs1673608 T C 1445.31 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.13;SNPEFF_AMINO_ACID_CHANGE=L133;SNPEFF_CODON_CHANGE=ttA/ttG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_138289160_138289340;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEP70;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000468900 GT:AD:DP:GQ:PL 1/1:0,40:40:99:1478,108,0
3 138289221 rs1673607 C T 1804.10 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.41;SNPEFF_AMINO_ACID_CHANGE=S114N;SNPEFF_CODON_CHANGE=aGt/aAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_138289160_138289340;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CEP70;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000468900 GT:AD:DP:GQ:PL 1/1:1,53:54:99:1837,135,0
3 138329862 rs811322 G A 2101.63 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.65;MQ0=0;QD=31.84;SNPEFF_AMINO_ACID_CHANGE=P21;SNPEFF_CODON_CHANGE=ccG/ccA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_138329446_138329879;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=FAIM;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000338446 GT:AD:DP:GQ:PL 1/1:0,66:66:99:2135,156,0
3 138340590 rs1672936 A G 38.05 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=19.03;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=FAIM;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000338446 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:69,6,0
3 138341284 rs62793562 CT C 148.21 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.962;DB;DP=24;FS=3.701;HRun=15;HaplotypeScore=108.2449;IndelType=D;MQ=60.39;MQ0=0;MQRankSum=-0.396;QD=6.18;ReadPosRankSum=0.51;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=FAIM;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464912 GT:AD:DP:GQ:PL 0/1:7,15:24:31.87:187,0,32
3 138362639 . GCAAAA G 1202.17 PASS AC=2;AF=1.00;AN=2;DP=29;FS=0.0;HRun=0;HaplotypeScore=167.852;IndelType=D;MQ=59.39;MQ0=0;QD=41.45;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP11-79L9.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491837 GT:AD:DP:GQ:PL 1/1:6,23:29:69.24:1244,69,0
3 138362902 rs7641106 A G 162.27 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.45;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP11-79L9.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491837 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:195,15,0
3 138383013 rs28763909 C A 44.50 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=14.83;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIK3CB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289153 GT:AD:DP:GQ:PL 0/1:1,2:3:33.98:74,0,34
3 138403390 rs625468 C T 429.08 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.76;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIK3CB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289153 GT:AD:DP:GQ:PL 1/1:0,12:12:36.11:462,36,0
3 138417989 rs361080 G A 208.46 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=57.39;MQ0=0;QD=23.16;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIK3CB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289153 GT:AD:DP:GQ:PL 1/1:0,9:9:18.06:241,18,0
3 138433568 rs497900 C T 5921.98 PASS AC=2;AF=1.00;AN=2;DB;DP=167;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.86;MQ0=0;QD=35.46;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIK3CB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000289153 GT:AD:DP:GQ:PL 1/1:0,167:167:99:5922,430,0
3 139065988 rs1610195 C T 537.73 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.55;MQ0=0;QD=33.61;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MRPS22;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000489521 GT:AD:DP:GQ:PL 1/1:0,16:16:45.11:571,45,0
3 139066902 rs10755092 A T 209.33 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.89;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MRPS22;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000489521 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:242,18,0
3 139075644 rs9878548 C A 694.22 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.57;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COPB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000333188 GT:AD:DP:GQ:PL 1/1:0,18:18:54.18:727,54,0
3 139076974 rs7616756 G A 330.38 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=2.266;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9997;MQ=60.0;MQ0=0;MQRankSum=-1.776;QD=22.03;ReadPosRankSum=-0.919;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MRPS22;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310776 GT:AD:DP:GQ:PL 0/1:5,10:15:99:360,0,129
3 139094462 . G A 250.62 PASS AB=0.586;AC=1;AF=0.50;AN=2;BaseQRankSum=0.288;DP=29;Dels=0.0;FS=7.032;HRun=1;HaplotypeScore=0.0;MQ=55.9;MQ0=0;MQRankSum=0.066;QD=8.64;ReadPosRankSum=-0.509;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COPB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000504295 GT:AD:DP:GQ:PL 0/1:17,12:29:99:281,0,517
3 139098357 rs9831108 A C 1302.22 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;QD=36.17;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COPB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000504295 GT:AD:DP:GQ:PL 1/1:0,36:36:99:1335,105,0
3 139102120 rs7373302 C A 1538.82 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.95;MQ0=0;QD=34.97;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COPB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000333188 GT:AD:DP:GQ:PL 1/1:0,44:44:99:1572,120,0
3 139108250 rs3215032 C CTG 568.09 PASS AC=2;AF=1.00;AN=2;DB;DP=11;FS=0.0;HRun=0;HaplotypeScore=41.335;IndelType=I;MQ=57.87;MQ0=0;QD=51.64;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COPB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000333188 GT:AD:DP:GQ:PL 1/1:1,10:11:30.10:610,30,0
3 139195177 rs2233815 C T 264.59 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.706;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=-0.618;QD=14.7;ReadPosRankSum=1.413;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RBP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000506825 GT:AD:DP:GQ:PL 0/1:9,9:18:99:295,0,304
3 139236683 rs2071388 C T 50.63 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=RBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000232219 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
3 139257545 rs113953652 GC G 198.20 PASS AB=0.719;AC=1;AF=0.50;AN=2;BaseQRankSum=2.236;DB;DP=23;FS=0.0;HRun=5;HaplotypeScore=58.8259;IndelType=D;MQ=60.0;MQ0=0;MQRankSum=0.724;QD=8.62;ReadPosRankSum=-0.409;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=RBP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000232219 GT:AD:DP:GQ:PL 0/1:14,9:23:99:237,0,491
3 139280328 rs72584875 G GA 521.63 PASS AB=0.632;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.496;DB;DP=24;FS=4.075;HRun=1;HaplotypeScore=55.3146;IndelType=I;MQ=60.45;MQ0=0;MQRankSum=0.283;QD=21.73;ReadPosRankSum=0.976;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=NMNAT3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296202 GT:AD:DP:GQ:PL 0/1:10,14:24:99:561,0,282
3 139346684 rs62273066 C G 789.11 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.11;MQ0=0;QD=30.35;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=NMNAT3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296202 GT:AD:DP:GQ:PL 1/1:0,26:26:60.20:822,60,0
3 140122341 rs4683494 G A 227.05 PASS AB=0.692;AC=1;AF=0.50;AN=2;BaseQRankSum=3.766;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.1992;MQ=60.0;MQ0=0;MQRankSum=0.949;QD=8.73;ReadPosRankSum=-2.113;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLSTN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000458420 GT:AD:DP:GQ:PL 0/1:18,8:26:99:257,0,236
3 140140213 rs7643984 A T 32.71 PASS AB=0.733;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.065;DB;DP=15;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.457;QD=2.18;ReadPosRankSum=0.588;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLSTN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000458420 GT:AD:DP:GQ:PL 0/1:11,4:15:62.70:63,0,406
3 140140349 rs7622202 G A 63.05 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.72;QD=10.51;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLSTN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000458420 GT:AD:DP:GQ:PL 0/1:2,4:6:67.19:93,0,67
3 140167227 rs6765235 C G 188.88 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.572;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.589;QD=23.61;ReadPosRankSum=1.067;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLSTN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000458420 GT:AD:DP:GQ:PL 0/1:2,6:8:54.95:219,0,55
3 140167536 rs2081803 A G 1285.69 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.0199;MQ=58.89;MQ0=0;QD=30.61;SNPEFF_AMINO_ACID_CHANGE=Q321;SNPEFF_CODON_CHANGE=caA/caG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_140167361_140167546;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLSTN2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000458420 GT:AD:DP:GQ:PL 1/1:0,42:42:99:1319,102,0
3 140178279 rs9836487 G A 329.84 PASS AB=0.45;AC=1;AF=0.50;AN=2;BaseQRankSum=1.671;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.9895;MQ=60.0;MQ0=0;MQRankSum=-0.152;QD=16.49;ReadPosRankSum=-0.152;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLSTN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000458420 GT:AD:DP:GQ:PL 0/1:9,11:20:99:360,0,264
3 140178485 rs7632885 G A 562.25 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=1.143;DB;DP=48;Dels=0.0;FS=4.179;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.623;QD=11.71;ReadPosRankSum=-0.104;SNPEFF_AMINO_ACID_CHANGE=V366I;SNPEFF_CODON_CHANGE=Gtc/Atc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_140178363_140178611;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLSTN2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000458420 GT:AD:DP:GQ:PL 0/1:27,21:48:99:592,0,813
3 140178638 rs35843099 CCCT C 902.46 PASS AB=0.712;AC=1;AF=0.50;AN=2;BaseQRankSum=5.234;DB;DP=52;FS=0.0;HRun=0;HaplotypeScore=219.3393;IndelType=D;MQ=59.95;MQ0=0;MQRankSum=-0.161;QD=17.36;ReadPosRankSum=-0.407;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLSTN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000458420 GT:AD:DP:GQ:PL 0/1:31,21:52:99:941,0,1719
3 140185248 rs534395 T C 244.20 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.89;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLSTN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000458420 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:277,21,0
3 140281723 rs11714465 C T 607.82 PASS AB=0.459;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.57;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.62;MQ0=0;MQRankSum=0.32;QD=16.43;ReadPosRankSum=0.564;SNPEFF_AMINO_ACID_CHANGE=S761;SNPEFF_CODON_CHANGE=tcC/tcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_140281653_140281798;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLSTN2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000458420 GT:AD:DP:GQ:PL 0/1:17,20:37:99:638,0,543
3 140282084 rs4683509 C G 1148.05 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.8;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLSTN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000458420 GT:AD:DP:GQ:PL 1/1:0,34:35:87.27:1181,87,0
3 140282718 rs74938120 T G 766.24 PASS AB=0.534;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.312;DB;DP=58;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.9452;MQ=59.6;MQ0=0;MQRankSum=-0.171;QD=13.21;ReadPosRankSum=-1.263;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLSTN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000458420 GT:AD:DP:GQ:PL 0/1:31,27:58:99:796,0,1048
3 140282861 rs10804675 C T 2103.19 PASS AB=0.377;AC=1;AF=0.50;AN=2;BaseQRankSum=2.271;DB;DP=114;Dels=0.0;FS=0.748;HRun=1;HaplotypeScore=0.9789;MQ=59.6;MQ0=0;MQRankSum=0.356;QD=18.45;ReadPosRankSum=0.719;SNPEFF_AMINO_ACID_CHANGE=V847;SNPEFF_CODON_CHANGE=gtC/gtT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_140282803_140282987;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLSTN2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000458420 GT:AD:DP:GQ:PL 0/1:43,71:114:99:2133,0,1080
3 140285115 rs4683510 T C 75.23 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.08;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLSTN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000458420 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:107,9,0
3 140401693 rs698673 A G 2798.23 PASS AC=2;AF=1.00;AN=2;DB;DP=81;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.43;MQ0=0;QD=34.55;SNPEFF_AMINO_ACID_CHANGE=K244R;SNPEFF_CODON_CHANGE=aAg/aGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_140401304_140402001;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRIM42;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000286349 GT:AD:DP:GQ:PL 1/1:0,81:81:99:2831,220,0
3 140692486 rs2555707 G T 254.62 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.83;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC25A36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000513887 GT:AD:DP:GQ:PL 1/1:0,8:8:21.07:288,21,0
3 140998214 rs13087169 G A 638.80 PASS AB=0.51;AC=1;AF=0.50;AN=2;BaseQRankSum=3.25;DB;DP=49;Dels=0.0;FS=1.266;HRun=0;HaplotypeScore=0.0;MQ=59.53;MQ0=0;MQRankSum=-0.33;QD=13.04;ReadPosRankSum=-0.03;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACPL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000286353 GT:AD:DP:GQ:PL 0/1:25,24:49:99:669,0,735
3 141006396 rs2137016 G C 116.32 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.241;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-3.123;QD=7.75;ReadPosRankSum=-0.177;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACPL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000505013 GT:AD:DP:GQ:PL 0/1:9,6:15:99:146,0,324
3 141464146 rs3184648 G A 323.25 PASS AB=0.56;AC=1;AF=0.50;AN=2;BaseQRankSum=0.695;DB;DP=25;Dels=0.0;FS=14.753;HRun=1;HaplotypeScore=0.0;MQ=59.07;MQ0=0;MQRankSum=0.927;QD=12.93;ReadPosRankSum=0.116;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RNF7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000498828 GT:AD:DP:GQ:PL 0/1:14,11:25:99:353,0,355
3 141464231 rs11542226 C T 193.23 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=1.589;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.572;QD=24.15;ReadPosRankSum=0.572;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RNF7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000498828 GT:AD:DP:GQ:PL 0/1:2,6:8:42.78:223,0,43
3 141496974 rs1533499 G A 35.86 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=1.026;QD=8.97;ReadPosRankSum=1.026;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GRK7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264952 GT:AD:DP:GQ:PL 0/1:2,2:4:57.59:66,0,58
3 141497150 rs1533501 C T 618.57 PASS AB=0.566;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.126;DB;DP=53;Dels=0.0;FS=5.732;HRun=0;HaplotypeScore=0.9983;MQ=60.0;MQ0=0;MQRankSum=-1.088;QD=11.67;ReadPosRankSum=0.539;SNPEFF_AMINO_ACID_CHANGE=D8;SNPEFF_CODON_CHANGE=gaC/gaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_141496990_141497738;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GRK7;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000264952 GT:AD:DP:GQ:PL 0/1:30,23:53:99:649,0,775
3 141595883 rs7616510 G C 171.44 PASS AB=0.143;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.742;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.742;QD=24.49;ReadPosRankSum=0.742;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP1B3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000286371 GT:AD:DP:GQ:PL 0/1:1,6:7:19.58:201,0,20
3 141622749 rs6440050 G C 119.98 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.731;QD=24.0;ReadPosRankSum=-0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP1B3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000286371 GT:AD:DP:GQ:PL 0/1:1,4:5:23.53:150,0,24
3 141625999 rs7622417 G C 361.90 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.576;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.535;QD=12.06;ReadPosRankSum=-0.539;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP1B3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000286371 GT:AD:DP:GQ:PL 0/1:15,15:30:99:392,0,409
3 141626189 rs3838612 C CGGTA 285.96 PASS AB=0.688;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.148;DB;DP=11;FS=0.0;HRun=0;HaplotypeScore=62.312;IndelType=I;MQ=60.98;MQ0=0;MQRankSum=0.103;QD=26.0;ReadPosRankSum=0.336;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP1B3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000286371 GT:AD:DP:GQ:PL 0/1:6,4:11:99:325,0,246
3 141644175 rs4683650 T C 44.87 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.44;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP1B3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000482635 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:76,6,0
3 141644274 rs1131029 G C 275.05 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9832;MQ=60.0;MQ0=0;QD=27.51;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP1B3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000482635 GT:AD:DP:GQ:PL 1/1:0,10:10:24.06:308,24,0
3 141678347 rs6440054 A T 966.75 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.6;MQ0=0;QD=32.23;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TFDP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467667 GT:AD:DP:GQ:PL 1/1:0,30:30:75.24:1000,75,0
3 141682484 rs7612323 C T 58.53 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.866;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9983;MQ=60.0;MQ0=0;MQRankSum=-1.036;QD=5.85;ReadPosRankSum=0.365;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TFDP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000478006 GT:AD:DP:GQ:PL 0/1:6,4:10:88.52:89,0,215
3 141724328 rs7627056 T C 869.06 PASS AB=0.525;AC=1;AF=0.50;AN=2;BaseQRankSum=4.911;DB;DP=59;Dels=0.0;FS=9.251;HRun=0;HaplotypeScore=2.6342;MQ=60.0;MQ0=0;MQRankSum=2.497;QD=14.73;ReadPosRankSum=0.478;SNPEFF_AMINO_ACID_CHANGE=L47;SNPEFF_CODON_CHANGE=ttA/ttG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_141724283_141724386;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TFDP2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000467634 GT:AD:DP:GQ:PL 0/1:31,28:59:99:899,0,965
3 141812759 rs9877817 G A 2588.67 PASS AC=2;AF=1.00;AN=2;DB;DP=75;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.69;MQ0=0;QD=34.52;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TFDP2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000317104 GT:AD:DP:GQ:PL 1/1:0,75:75:99:2622,205,0
3 141889009 rs13067957 T G 318.13 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=2.64;DB;DP=28;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.17;MQ0=0;MQRankSum=-0.814;QD=11.36;ReadPosRankSum=1.209;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=GK5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000486459 GT:AD:DP:GQ:PL 0/1:16,12:28:99:348,0,489
3 141891346 . T C 375.17 PASS AB=0.368;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.38;DP=19;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.78;MQ0=0;MQRankSum=-1.902;QD=19.75;ReadPosRankSum=0.887;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=GK5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392993 GT:AD:DP:GQ:PL 0/1:7,12:19:99:405,0,226
3 141904474 rs6785098 C T 88.60 PASS AB=0.692;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.694;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.2;MQ0=0;MQRankSum=-1.312;QD=6.82;ReadPosRankSum=-1.157;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=GK5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460544 GT:AD:DP:GQ:PL 0/1:9,4:13:99:119,0,336
3 141904493 rs6798013 T A 77.74 PASS AB=0.588;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.342;DB;DP=17;Dels=0.0;FS=0.0;HRun=8;HaplotypeScore=0.0;MQ=58.63;MQ0=0;MQRankSum=0.146;QD=4.57;ReadPosRankSum=-0.927;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=GK5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460544 GT:AD:DP:GQ:PL 0/1:10,7:17:99:108,0,368
3 141904977 rs6440065 G A 496.97 PASS AB=0.292;AC=1;AF=0.50;AN=2;BaseQRankSum=1.143;DB;DP=24;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=1.5362;MQ=60.0;MQ0=0;MQRankSum=-1.715;QD=20.71;ReadPosRankSum=-1.207;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=GK5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460544 GT:AD:DP:GQ:PL 0/1:7,17:24:99:527,0,176
3 141906446 rs72050046 CA C 45.43 PASS AB=0.579;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.898;DB;DP=11;FS=0.0;HRun=17;HaplotypeScore=101.9511;IndelType=D;MQ=45.77;MQ0=0;MQRankSum=1.733;QD=4.13;ReadPosRankSum=1.271;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=GK5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392993 GT:AD:DP:GQ:PL 0/1:1,6:11:10.54:84,0,11
3 142168331 rs1802904 C T 1552.72 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.35;SNPEFF_AMINO_ACID_CHANGE=Q2561;SNPEFF_CODON_CHANGE=caG/caA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_142168080_142168444;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ATR;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000383101 GT:AD:DP:GQ:PL 1/1:0,48:48:99:1586,123,0
3 142217537 rs2227932 A G 281.52 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.259;DB;DP=24;Dels=0.0;FS=1.685;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.376;QD=11.73;ReadPosRankSum=-0.029;SNPEFF_AMINO_ACID_CHANGE=Y1756;SNPEFF_CODON_CHANGE=taT/taC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_142217439_142217616;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=ATR;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000383101 GT:AD:DP:GQ:PL 0/1:14,10:24:99:312,0,463
3 142405191 rs41265481 C T 836.77 PASS AB=0.54;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.311;DB;DP=63;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.3302;MQ=59.63;MQ0=0;MQRankSum=1.845;QD=13.28;ReadPosRankSum=0.326;SNPEFF_AMINO_ACID_CHANGE=A239;SNPEFF_CODON_CHANGE=gcC/gcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_142405126_142405218;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLS1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000476044 GT:AD:DP:GQ:PL 0/1:34,29:63:99:867,0,944
3 142567327 rs893883 G A 995.34 PASS AB=0.456;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.379;DB;DP=57;Dels=0.0;FS=1.322;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.2;QD=17.46;ReadPosRankSum=-1.114;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PCOLCE2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295992 GT:AD:DP:GQ:PL 0/1:26,31:57:99:1025,0,866
3 142607487 rs1457684 C G 40.09 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.05;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PCOLCE2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295992 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:71,6,0
3 142681249 rs62276870 G A 489.32 PASS AB=0.61;AC=1;AF=0.50;AN=2;BaseQRankSum=0.334;DB;DP=41;Dels=0.0;FS=1.21;HRun=0;HaplotypeScore=0.0;MQ=56.54;MQ0=0;MQRankSum=0.735;QD=11.93;ReadPosRankSum=0.682;SNPEFF_AMINO_ACID_CHANGE=S310;SNPEFF_CODON_CHANGE=agC/agT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_142680076_142682178;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PAQR9;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000340634 GT:AD:DP:GQ:PL 0/1:25,16:41:99:519,0,758
3 142720348 rs766360 G A 393.89 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.81;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=U2SURP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473835 GT:AD:DP:GQ:PL 1/1:0,11:11:33.08:427,33,0
3 142740061 rs4683720 G A 321.31 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.7;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=U2SURP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465175 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:354,27,0
3 142746260 rs9835348 T C 254 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.39;MQ0=0;QD=28.22;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=U2SURP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461591 GT:AD:DP:GQ:PL 1/1:0,9:9:24.06:287,24,0
3 142746988 rs1839406 A G 77.30 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.77;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=U2SURP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461591 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:109,9,0
3 142752293 rs1449869 G A 154.06 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.81;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=U2SURP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000319822 GT:AD:DP:GQ:PL 1/1:0,5:5:15.03:187,15,0
3 142772785 rs16852921 G A 540.73 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.62;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=U2SURP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000480029 GT:AD:DP:GQ:PL 1/1:0,14:14:42.14:574,42,0
3 142773738 rs10935479 C T 1174.11 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=59.3;MQ0=0;QD=35.58;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=U2SURP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000480029 GT:AD:DP:GQ:PL 1/1:0,32:33:90.30:1207,90,0
3 142895174 rs3927028 T G 55.45 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.727;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.21;MQ0=0;MQRankSum=0.727;QD=11.09;ReadPosRankSum=0.727;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retrotransposed;SNPEFF_GENE_NAME=RP11-80H8.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000538741 GT:AD:DP:GQ:PL 0/1:2,3:5:21.40:85,0,21
3 142895544 rs80262371 G A 466.14 PASS AB=0.488;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.407;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=46.34;MQ0=0;MQRankSum=-0.098;QD=11.37;ReadPosRankSum=-0.126;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retrotransposed;SNPEFF_GENE_NAME=RP11-80H8.5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000493219 GT:AD:DP:GQ:PL 0/1:20,21:41:99:496,0,624
3 142985924 rs75407673 G A 52.22 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.41;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000316549 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:83,6,0
3 143237158 rs9289664 G C 368 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=54.89;MQ0=0;QD=30.67;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000316549 GT:AD:DP:GQ:PL 1/1:0,12:12:30.09:401,30,0
3 143271365 rs1525861 A C 216.20 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.783;DB;DP=16;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.418;QD=13.51;ReadPosRankSum=0.368;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000316549 GT:AD:DP:GQ:PL 0/1:8,8:16:99:246,0,247
3 143293012 rs6763202 A G 177.93 PASS AB=0.529;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.165;DB;DP=17;Dels=0.0;FS=1.957;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.299;QD=10.47;ReadPosRankSum=-1.684;SNPEFF_AMINO_ACID_CHANGE=C189;SNPEFF_CODON_CHANGE=tgT/tgC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_143292930_143293035;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A9;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000450105 GT:AD:DP:GQ:PL 0/1:9,8:17:99:208,0,274
3 143412268 rs12488981 T C 673.62 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.45;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000316549 GT:AD:DP:GQ:PL 1/1:0,19:19:54.17:707,54,0
3 143412373 rs58901417 G A 123.25 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.81;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000316549 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:156,12,0
3 143567207 rs11714060 A G 799.01 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.73;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC9A9;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000498717 GT:AD:DP:GQ:PL 1/1:0,26:26:69.21:832,69,0
3 145542054 rs143878350 A G 547.08 PASS AB=0.612;AC=1;AF=0.50;AN=2;BaseQRankSum=0.831;DB;DP=49;Dels=0.0;FS=1.182;HRun=1;HaplotypeScore=0.6651;MQ=58.3;MQ0=0;MQRankSum=0.667;QD=11.16;ReadPosRankSum=0.503;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP11-88H10.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463605 GT:AD:DP:GQ:PL 0/1:30,19:49:99:577,0,882
3 145542203 rs9877492 G A 91.97 PASS AB=0.595;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.572;DB;DP=37;Dels=0.0;FS=3.01;HRun=0;HaplotypeScore=0.5784;MQ=51.14;MQ0=0;MQRankSum=-0.913;QD=2.49;ReadPosRankSum=-0.108;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP11-88H10.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463605 GT:AD:DP:GQ:PL 0/1:22,15:37:99:122,0,777
3 145542204 rs9877227 C T 91.97 PASS AB=0.595;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.81;DB;DP=37;Dels=0.0;FS=3.01;HRun=0;HaplotypeScore=0.0;MQ=51.14;MQ0=0;MQRankSum=-0.758;QD=2.49;ReadPosRankSum=-0.108;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP11-88H10.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463605 GT:AD:DP:GQ:PL 0/1:22,15:37:99:122,0,778
3 145542558 rs7630694 T G 450.07 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.092;DB;DP=32;Dels=0.0;FS=1.845;HRun=1;HaplotypeScore=0.0;MQ=55.94;MQ0=0;MQRankSum=1.451;QD=14.06;ReadPosRankSum=1.715;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP11-88H10.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463605 GT:AD:DP:GQ:PL 0/1:16,16:32:99:480,0,487
3 145614845 rs9790074 T A 150.44 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.361;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.307;QD=16.72;ReadPosRankSum=0.0;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AC055758.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000410418 GT:AD:DP:GQ:PL 0/1:4,5:9:99:180,0,141
3 145796891 rs73010484 T C 2458.01 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.292;DB;DP=77;Dels=0.0;FS=3.813;HRun=1;HaplotypeScore=0.0;MQ=59.7;MQ0=0;MQRankSum=0.832;QD=31.92;ReadPosRankSum=1.237;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLOD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460520 GT:AD:DP:GQ:PL 1/1:1,76:77:99:2491,154,0
3 145821806 rs6781300 A G 48.72 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLOD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282903 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:80,6,0
3 145838895 rs4681297 C T 1726.36 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.2;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLOD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282903 GT:AD:DP:GQ:PL 1/1:0,52:52:99:1759,132,0
3 145842186 rs3762690 T C 129.23 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.31;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLOD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282903 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:162,12,0
3 145878591 rs34803917 G A 48.08 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.04;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLOD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282903 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
3 145878621 rs76718163 C T 43.46 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=14.49;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLOD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282903 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:75,6,0
3 145878629 rs116299517 C T 54.76 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.25;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_3_145878576_145878779;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLOD2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000494950 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:86,6,0
3 145912177 rs9815240 T G 1147.97 PASS AB=0.506;AC=1;AF=0.50;AN=2;BaseQRankSum=1.875;DB;DP=77;Dels=0.0;FS=4.829;HRun=1;HaplotypeScore=0.0;MQ=59.52;MQ0=0;MQRankSum=0.545;QD=14.91;ReadPosRankSum=0.556;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLSCR4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460350 GT:AD:DP:GQ:PL 0/1:39,38:77:99:1178,0,1064
3 145912299 rs1512902 C T 449.49 PASS AB=0.585;AC=1;AF=0.50;AN=2;BaseQRankSum=4.829;DB;DP=41;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=-0.41;QD=10.96;ReadPosRankSum=1.363;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLSCR4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460350 GT:AD:DP:GQ:PL 0/1:24,17:41:99:479,0,668
3 145914366 rs78851167 C T 701.97 PASS AB=0.488;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.456;DB;DP=41;Dels=0.0;FS=3.873;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.248;QD=17.12;ReadPosRankSum=1.656;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLSCR4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460350 GT:AD:DP:GQ:PL 0/1:20,21:41:99:732,0,617
3 145938528 rs3762686 C A 285.89 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.05;MQ0=0;QD=35.74;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLSCR4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000354952 GT:AD:DP:GQ:PL 1/1:0,8:8:24.08:319,24,0
3 146167352 rs2222465 G A 44.31 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.16;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PLSCR2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000489015 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:76,6,0
3 146177815 rs6806535 C T 131.11 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=2.793;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.244;QD=10.93;ReadPosRankSum=-1.309;SNPEFF_AMINO_ACID_CHANGE=Q32;SNPEFF_CODON_CHANGE=caG/caA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_146177635_146177870;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=PLSCR2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000497985 GT:AD:DP:GQ:PL 0/1:7,5:12:99:161,0,234
3 146251430 rs2738905 A G 135.55 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.278;QD=11.3;ReadPosRankSum=0.278;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLSCR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342435 GT:AD:DP:GQ:PL 0/1:4,8:12:99:166,0,128
3 146251433 rs2587024 T G 132.11 PASS AB=0.385;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.239;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.289;QD=10.16;ReadPosRankSum=-0.825;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLSCR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000342435 GT:AD:DP:GQ:PL 0/1:5,8:13:99:162,0,128
3 147113586 rs73004638 A T 588.10 PASS AB=0.603;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.762;DB;DP=58;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.8665;MQ=59.2;MQ0=0;MQRankSum=0.238;QD=10.14;ReadPosRankSum=1.942;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZIC4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462748 GT:AD:DP:GQ:PL 0/1:35,23:58:99:618,0,1174
3 147131234 rs143292136 A G 638.86 PASS AB=0.574;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.025;DB;DP=61;Dels=0.0;FS=2.245;HRun=0;HaplotypeScore=0.0;MQ=59.62;MQ0=0;MQRankSum=-0.848;QD=10.47;ReadPosRankSum=-0.204;SNPEFF_AMINO_ACID_CHANGE=T414A;SNPEFF_CODON_CHANGE=Aca/Gca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_147131141_147134506;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=ZIC1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000282928 GT:AD:DP:GQ:PL 0/1:35,26:61:99:669,0,1001
3 147629122 rs6784312 A T 509.12 PASS AB=0.627;AC=1;AF=0.50;AN=2;BaseQRankSum=0.544;DB;DP=51;Dels=0.0;FS=1.182;HRun=0;HaplotypeScore=0.0;MQ=59.55;MQ0=0;MQRankSum=-0.708;QD=9.98;ReadPosRankSum=-0.605;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AC092925.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408504 GT:AD:DP:GQ:PL 0/1:32,19:51:99:539,0,885
3 148459395 rs5182 C T 805.80 PASS AB=0.574;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.595;DB;DP=61;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.6642;MQ=58.55;MQ0=0;MQRankSum=2.107;QD=13.21;ReadPosRankSum=-1.262;SNPEFF_AMINO_ACID_CHANGE=L191;SNPEFF_CODON_CHANGE=ctC/ctT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_148458776_148460790;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGTR1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000349243 GT:AD:DP:GQ:PL 0/1:35,26:61:99:836,0,1167
3 148459884 rs5183 A G 774.32 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.345;DB;DP=60;Dels=0.0;FS=3.662;HRun=0;HaplotypeScore=0.0;MQ=59.62;MQ0=0;MQRankSum=1.05;QD=12.91;ReadPosRankSum=0.45;SNPEFF_AMINO_ACID_CHANGE=P354;SNPEFF_CODON_CHANGE=ccA/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_148458776_148460790;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AGTR1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000349243 GT:AD:DP:GQ:PL 0/1:35,25:60:99:804,0,1044
3 148546001 rs1492094 A G 131.97 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.696;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.092;QD=10.15;ReadPosRankSum=-0.533;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CPB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282957 GT:AD:DP:GQ:PL 0/1:8,5:13:99:162,0,292
3 148552539 rs9830213 T C 253.13 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.64;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CPB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000494888 GT:AD:DP:GQ:PL 1/1:0,8:8:24.07:286,24,0
3 148575156 rs2331407 C T 210.27 PASS AB=0.3;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.58;DB;DP=10;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.546;QD=21.03;ReadPosRankSum=-0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CPB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282957 GT:AD:DP:GQ:PL 0/1:3,7:10:95.20:240,0,95
3 148575441 rs1356259 C T 33.83 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=4.83;ReadPosRankSum=0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CPB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282957 GT:AD:DP:GQ:PL 0/1:5,2:7:63.82:64,0,137
3 148597482 rs1032465 T G 177.60 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=1.422;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.001;QD=19.73;ReadPosRankSum=0.573;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CPA3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296046 GT:AD:DP:GQ:PL 0/1:3,6:9:92.79:208,0,93
3 148597612 rs12489516 C T 670.92 PASS AB=0.425;AC=1;AF=0.50;AN=2;BaseQRankSum=1.012;DB;DP=40;Dels=0.0;FS=2.795;HRun=0;HaplotypeScore=1.9331;MQ=58.25;MQ0=0;MQRankSum=-0.383;QD=16.77;ReadPosRankSum=0.711;SNPEFF_AMINO_ACID_CHANGE=T171M;SNPEFF_CODON_CHANGE=aCg/aTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_148597575_148597676;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CPA3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000296046 GT:AD:DP:GQ:PL 0/1:17,23:40:99:701,0,545
3 148704081 rs9868669 G A 429.11 PASS AB=0.641;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.204;DB;DP=39;Dels=0.0;FS=5.123;HRun=1;HaplotypeScore=0.9159;MQ=56.47;MQ0=0;MQRankSum=0.986;QD=11.0;ReadPosRankSum=1.394;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=UBQLN4P1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000368308 GT:AD:DP:GQ:PL 0/1:25,14:39:99:459,0,674
3 148712255 rs9819077 A G 92.60 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GYG1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296048 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:125,9,0
3 148714025 rs3772580 C G 509.18 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.173;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.65;MQ0=0;MQRankSum=-1.061;QD=18.18;ReadPosRankSum=-0.518;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GYG1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296048 GT:AD:DP:GQ:PL 0/1:12,16:28:99:539,0,323
3 148756825 rs6764352 G A 1017.92 PASS AB=0.468;AC=1;AF=0.50;AN=2;BaseQRankSum=1.845;DB;DP=62;Dels=0.0;FS=4.264;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.21;QD=16.42;ReadPosRankSum=-1.643;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HLTF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000497427 GT:AD:DP:GQ:PL 0/1:29,33:62:99:1048,0,857
3 148758135 rs1457604 C T 40.01 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=13.34;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HLTF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310053 GT:AD:DP:GQ:PL 0/1:1,2:3:28.77:70,0,29
3 148786108 rs812249 C T 1959.38 PASS AB=0.484;AC=1;AF=0.50;AN=2;BaseQRankSum=5.794;DB;DP=124;Dels=0.0;FS=6.308;HRun=0;HaplotypeScore=1.9889;MQ=59.07;MQ0=0;MQRankSum=0.59;QD=15.8;ReadPosRankSum=-0.792;SNPEFF_AMINO_ACID_CHANGE=T300;SNPEFF_CODON_CHANGE=acG/acA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_148786027_148786122;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HLTF;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000392913 GT:AD:DP:GQ:PL 0/1:60,64:124:99:1989,0,1679
3 148788893 rs746671 C T 64.55 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=16.14;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HLTF;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000310053 GT:AD:DP:GQ:PL 0/1:1,3:4:30.21:95,0,30
3 148858987 rs111598115 C CTTTTT 920.54 PASS AB=0.76;AC=1;AF=0.50;AN=2;BaseQRankSum=3.02;DB;DP=57;FS=0.0;HRun=13;HaplotypeScore=385.9094;IndelType=I;MQ=53.24;MQ0=0;MQRankSum=-2.919;QD=16.15;ReadPosRankSum=-1.768;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HPS3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296051 GT:AD:DP:GQ:PL 0/1:37,8:57:99:960,0,1012
3 148868292 rs150286093 GC G 125.97 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=1.495;DB;DP=7;FS=0.0;HRun=3;HaplotypeScore=35.9697;IndelType=D;MQ=60.0;MQ0=0;MQRankSum=-0.922;QD=18.0;ReadPosRankSum=0.198;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HPS3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296051 GT:AD:DP:GQ:PL 0/1:2,5:7:65.40:165,0,65
3 148868361 rs2689232 C T 370.82 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.173;DB;DP=21;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.107;QD=17.66;ReadPosRankSum=-0.746;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=HPS3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296051 GT:AD:DP:GQ:PL 0/1:9,12:21:99:401,0,277
3 148876261 rs772903 T G 76.26 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=15.25;ReadPosRankSum=0.358;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479771 GT:AD:DP:GQ:PL 0/1:2,3:5:60.54:106,0,61
3 148885851 rs2681096 G A 228.69 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=2.037;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.278;QD=20.79;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264613 GT:AD:DP:GQ:PL 0/1:4,7:11:99:259,0,132
3 148901406 rs143522213 AC A 257.68 PASS AB=0.636;AC=1;AF=0.50;AN=2;BaseQRankSum=0.533;DB;DP=14;FS=0.0;HRun=1;HaplotypeScore=44.726;IndelType=D;MQ=60.0;MQ0=0;MQRankSum=0.271;QD=18.41;ReadPosRankSum=1.855;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462336 GT:AD:DP:GQ:PL 0/1:6,8:14:99:297,0,123
3 148916235 rs701753 T A 303.28 PASS AB=0.464;AC=1;AF=0.50;AN=2;BaseQRankSum=0.843;DB;DP=28;Dels=0.0;FS=3.741;HRun=0;HaplotypeScore=0.0;MQ=47.39;MQ0=0;MQRankSum=-3.78;QD=10.83;ReadPosRankSum=0.571;SNPEFF_AMINO_ACID_CHANGE=E327D;SNPEFF_CODON_CHANGE=gaA/gaT;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_148916154_148916365;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CP;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000494544 GT:AD:DP:GQ:PL 0/1:13,15:28:99:333,0,464
3 148925525 rs1523515 T C 64.36 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.55;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.55;QD=9.19;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000455472 GT:AD:DP:GQ:PL 0/1:4,3:7:94.35:94,0,148
3 149039324 rs2015626 G A 677.49 PASS AB=0.491;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.863;DB;DP=54;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.432;QD=12.55;ReadPosRankSum=1.77;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TM4SF18;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474754 GT:AD:DP:GQ:PL 0/1:26,27:54:99:707,0,834
3 149040024 rs74464774 G A 478.66 PASS AB=0.515;AC=1;AF=0.50;AN=2;BaseQRankSum=0.63;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.306;QD=14.5;ReadPosRankSum=-0.919;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TM4SF18;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000474754 GT:AD:DP:GQ:PL 0/1:17,16:33:99:509,0,541
3 149050834 rs1493263 G C 64.56 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=1.92;DB;DP=8;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.5767;MQ=60.0;MQ0=0;MQRankSum=-0.684;QD=8.07;ReadPosRankSum=1.221;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TM4SF18;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296059 GT:AD:DP:GQ:PL 0/1:5,3:8:94.56:95,0,175
3 149050925 rs1526786 T C 114.48 PASS AB=0.762;AC=1;AF=0.50;AN=2;BaseQRankSum=2.684;DB;DP=21;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.289;QD=5.45;ReadPosRankSum=2.766;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TM4SF18;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000296059 GT:AD:DP:GQ:PL 0/1:16,5:21:99:144,0,603
3 149087404 rs8479 T C 172.57 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.51;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TM4SF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000493298 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:205,15,0
3 149087714 rs6776940 T C 3400.50 PASS AC=2;AF=1.00;AN=2;DB;DP=103;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.01;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TM4SF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000493298 GT:AD:DP:GQ:PL 1/1:0,103:103:99:3400,265,0
3 149087909 rs1918123 A G 85.68 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.42;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TM4SF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000493298 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:118,9,0
3 149093238 rs4771 A G 1288.89 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.05;SNPEFF_AMINO_ACID_CHANGE=T135;SNPEFF_CODON_CHANGE=acT/acC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_149093230_149093375;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TM4SF1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000305366 GT:AD:DP:GQ:PL 1/1:0,39:39:99:1322,105,0
3 149192564 rs9793 A G 495.24 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.37;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TM4SF4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463068 GT:AD:DP:GQ:PL 1/1:0,14:14:42.13:528,42,0
3 149192851 rs143312618 G GC 1608.04 PASS AC=2;AF=1.00;AN=2;DB;DP=38;FS=0.0;HRun=1;HaplotypeScore=89.4839;IndelType=I;MQ=61.41;MQ0=0;QD=42.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TM4SF4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000305354 GT:AD:DP:GQ:PL 1/1:1,37:38:99:1650,111,0
3 149193684 rs1802837 T C 679.83 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.56;SNPEFF_AMINO_ACID_CHANGE=C83;SNPEFF_CODON_CHANGE=tgT/tgC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_149193610_149193699;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TM4SF4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000305354 GT:AD:DP:GQ:PL 1/1:0,23:23:57.18:713,57,0
3 149205217 rs34895718 A G 316.65 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.79;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TM4SF4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000305354 GT:AD:DP:GQ:PL 1/1:0,11:11:27.09:350,27,0
3 149216298 rs10935762 C T 83.53 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.84;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TM4SF4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000305354 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:116,9,0
3 149216311 rs11720325 A T 127.08 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.77;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TM4SF4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000305354 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:160,12,0
3 149238595 rs112399999 C CTTAA 2161.80 PASS AB=0.72;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.419;DB;DP=72;FS=0.0;HRun=0;HaplotypeScore=278.1351;IndelType=I;MQ=59.14;MQ0=0;MQRankSum=0.529;QD=30.03;ReadPosRankSum=0.638;SNPEFF_EFFECT=FRAME_SHIFT;SNPEFF_EXON_ID=exon_3_149238032_149238776;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WWTR1;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000360632 GT:AD:DP:GQ:PL 0/1:44,25:72:99:2201,0,2248
3 149243694 rs9854499 G C 52.22 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.41;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WWTR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360632 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:83,6,0
3 149243715 rs77504578 T G 108.97 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.361;QD=12.11;ReadPosRankSum=-0.729;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WWTR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360632 GT:AD:DP:GQ:PL 0/1:4,5:9:99:139,0,137
3 149375289 rs6783790 G A 47.79 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.89;SNPEFF_EFFECT=SPLICE_SITE_DONOR;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=WWTR1;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000460517 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:79,6,0
3 149459341 rs7633238 A G 1779.76 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=5.6735;MQ=59.55;MQ0=0;QD=34.9;SNPEFF_AMINO_ACID_CHANGE=N189;SNPEFF_CODON_CHANGE=aaT/aaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_149456257_149459505;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COMMD2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000473414 GT:AD:DP:GQ:PL 1/1:0,51:51:99:1813,135,0
3 149459413 rs11549572 C T 948.38 PASS AB=0.45;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.892;DB;DP=60;Dels=0.0;FS=0.989;HRun=0;HaplotypeScore=0.9993;MQ=59.62;MQ0=0;MQRankSum=0.03;QD=15.81;ReadPosRankSum=-0.312;SNPEFF_AMINO_ACID_CHANGE=L165;SNPEFF_CODON_CHANGE=ctG/ctA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_149456257_149459505;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COMMD2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000473414 GT:AD:DP:GQ:PL 0/1:27,33:60:99:978,0,865
3 149468530 rs9843784 T G 1573.76 PASS AB=0.541;AC=1;AF=0.50;AN=2;BaseQRankSum=0.817;DB;DP=122;Dels=0.0;FS=2.332;HRun=0;HaplotypeScore=0.0;MQ=59.81;MQ0=0;MQRankSum=-0.807;QD=12.79;ReadPosRankSum=0.466;SNPEFF_AMINO_ACID_CHANGE=I113L;SNPEFF_CODON_CHANGE=Att/Ctt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_149468465_149468638;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COMMD2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000473414 GT:AD:DP:GQ:PL 0/1:66,56:122:99:1604,0,1817
3 149468680 rs75480034 G A 308.54 PASS AB=0.607;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.659;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.612;QD=11.02;ReadPosRankSum=0.423;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COMMD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000490008 GT:AD:DP:GQ:PL 0/1:17,11:28:99:339,0,586
3 149469159 rs41267879 C G 493.58 PASS AB=0.553;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.734;DB;DP=38;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=2.026;QD=12.99;ReadPosRankSum=2.29;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=COMMD2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000490008 GT:AD:DP:GQ:PL 0/1:21,17:38:99:524,0,693
3 149485901 rs3839072 T TG 428.58 PASS AB=0.639;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.137;DB;DP=23;FS=1.792;HRun=4;HaplotypeScore=60.3465;IndelType=I;MQ=59.94;MQ0=0;MQRankSum=1.402;QD=18.63;ReadPosRankSum=-0.935;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKUB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000383050 GT:AD:DP:GQ:PL 0/1:10,13:23:99:468,0,239
3 149488309 rs7630033 A G 649.32 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.95;MQ0=0;QD=29.51;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKUB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000383050 GT:AD:DP:GQ:PL 1/1:0,22:22:57.16:682,57,0
3 149488442 rs7630153 A G 1997.37 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.26;SNPEFF_AMINO_ACID_CHANGE=D157;SNPEFF_CODON_CHANGE=gaT/gaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_149488347_149488461;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKUB1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000383050 GT:AD:DP:GQ:PL 1/1:0,66:66:99:2030,153,0
3 149497981 rs141785874 C T 68.45 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.322;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.322;QD=8.56;ReadPosRankSum=0.684;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKUB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481585 GT:AD:DP:GQ:PL 0/1:5,3:8:98.44:98,0,184
3 149510262 rs4681554 A G 489.74 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.67;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ANKUB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481585 GT:AD:DP:GQ:PL 1/1:0,13:13:39.12:523,39,0
3 149613232 rs3856613 ATT A 311.48 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.382;DB;DP=29;FS=0.0;HRun=18;HaplotypeScore=240.8799;IndelType=D;MQ=56.95;MQ0=0;MQRankSum=2.019;QD=10.38;ReadPosRankSum=-0.164;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RNF13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344229 GT:AD:DP:GQ:PL 1/1:15,12:29:33.22:354,33,0
3 149613249 . TTG T 92.95 PASS AB=0.867;AC=1;AF=0.50;AN=2;BaseQRankSum=3.237;DP=38;FS=15.413;HRun=0;HaplotypeScore=282.171;IndelType=D;MQ=57.67;MQ0=0;MQRankSum=-0.58;QD=2.38;ReadPosRankSum=1.291;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RNF13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344229 GT:AD:DP:GQ:PL 0/1:33,6:38:99:132,0,427
3 149678534 rs6768054 C T 1660.20 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9159;MQ=59.51;MQ0=0;QD=35.32;SNPEFF_AMINO_ACID_CHANGE=H144;SNPEFF_CODON_CHANGE=caC/caT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_149678527_149679913;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RNF13;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000361785 GT:AD:DP:GQ:PL 1/1:0,47:47:99:1693,123,0
3 149686366 rs75169519 AAC A 2106.32 PASS AC=2;AF=1.00;AN=2;DB;DP=78;FS=0.0;HRun=0;HaplotypeScore=384.9577;IndelType=D;MQ=60.54;MQ0=0;QD=27.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PFN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000239940 GT:AD:DP:GQ:PL 1/1:28,50:78:99:2148,186,0
3 149686367 rs61268501 AC A 858.66 PASS AB=0.94;AC=1;AF=0.50;AN=2;BaseQRankSum=2.834;DB;DP=78;FS=6.885;HRun=1;HaplotypeScore=448.2284;IndelType=D;MQ=60.54;MQ0=0;MQRankSum=0.343;QD=11.01;ReadPosRankSum=5.2;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PFN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000239940 GT:AD:DP:GQ:PL 0/1:73,5:78:47.45:898,0,47
3 149686507 rs4425205 T C 42.20 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.1;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PFN2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000239940 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:73,6,0
3 150128154 rs61734437 T C 229.44 PASS AB=0.385;AC=1;AF=0.50;AN=2;BaseQRankSum=0.271;DB;DP=13;Dels=0.0;FS=5.332;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.212;QD=17.65;ReadPosRankSum=-0.212;SNPEFF_AMINO_ACID_CHANGE=P339;SNPEFF_CODON_CHANGE=ccT/ccC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_150126122_150129095;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TSC22D2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000361136 GT:AD:DP:GQ:PL 0/1:5,8:13:99:259,0,161
3 150128994 rs34647320 T G 653.75 PASS AB=0.491;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.553;DB;DP=53;Dels=0.0;FS=2.422;HRun=1;HaplotypeScore=0.8321;MQ=58.68;MQ0=0;MQRankSum=2.798;QD=12.33;ReadPosRankSum=-0.349;SNPEFF_AMINO_ACID_CHANGE=P619;SNPEFF_CODON_CHANGE=ccT/ccG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_150126122_150129095;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TSC22D2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000361136 GT:AD:DP:GQ:PL 0/1:26,27:53:99:684,0,795
3 150129171 rs5853476 A AT 606.37 PASS AC=2;AF=1.00;AN=2;DB;DP=17;FS=0.0;HRun=2;HaplotypeScore=38.4103;IndelType=I;MQ=59.92;MQ0=0;QD=35.67;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TSC22D2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361136 GT:AD:DP:GQ:PL 1/1:1,16:17:45.15:648,45,0
3 150264003 rs1130834 G C 230.35 PASS AB=0.231;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.62;DB;DP=13;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.93;QD=17.72;ReadPosRankSum=0.93;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SERP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491195 GT:AD:DP:GQ:PL 0/1:3,10:13:91.02:260,0,91
3 150264428 rs6790726 T C 512.87 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.63;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SERP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491195 GT:AD:DP:GQ:PL 1/1:0,14:14:42.14:546,42,0
3 150270077 rs12330655 C G 993.79 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.81;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=EIF2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273435 GT:AD:DP:GQ:PL 1/1:0,27:27:78.24:1027,78,0
3 150276151 . A AT 158.83 PASS AB=0.743;AC=1;AF=0.50;AN=2;BaseQRankSum=3.663;DP=26;FS=0.0;HRun=0;HaplotypeScore=110.6614;IndelType=I;MQ=59.11;MQ0=0;MQRankSum=0.553;QD=6.11;ReadPosRankSum=-0.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=EIF2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273435 GT:AD:DP:GQ:PL 0/1:17,9:26:99:198,0,566
3 150280206 rs5853482 CA C 34.48 PASS AB=0.706;AC=1;AF=0.50;AN=2;BaseQRankSum=1.134;DB;DP=12;FS=0.0;HRun=13;HaplotypeScore=66.5482;IndelType=D;MQ=60.0;MQ0=0;MQRankSum=-0.244;QD=2.87;ReadPosRankSum=-1.461;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=EIF2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463863 GT:AD:DP:GQ:PL 0/1:7,5:12:73.50:74,0,168
3 150280253 rs4343650 A T 487.95 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.708;DB;DP=37;Dels=0.0;FS=5.473;HRun=0;HaplotypeScore=0.0;MQ=59.38;MQ0=0;MQRankSum=-1.234;QD=13.19;ReadPosRankSum=-0.092;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=EIF2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463863 GT:AD:DP:GQ:PL 0/1:15,20:37:99:518,0,419
3 150280445 rs1132979 C G 1172.74 PASS AB=0.463;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.967;DB;DP=80;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.4725;MQ=59.7;MQ0=0;MQRankSum=0.937;QD=14.66;ReadPosRankSum=-0.857;SNPEFF_AMINO_ACID_CHANGE=T72S;SNPEFF_CODON_CHANGE=aCt/aGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_150280329_150280447;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=EIF2A;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000487799 GT:AD:DP:GQ:PL 0/1:37,43:80:99:1203,0,1208
3 150280506 rs5853483 GA G 567.66 PASS AB=0.65;AC=1;AF=0.50;AN=2;BaseQRankSum=4.536;DB;DP=39;FS=0.0;HRun=5;HaplotypeScore=145.4588;IndelType=D;MQ=59.95;MQ0=0;MQRankSum=0.319;QD=14.56;ReadPosRankSum=-0.921;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=EIF2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463863 GT:AD:DP:GQ:PL 0/1:18,21:39:99:607,0,419
3 150285520 rs2293151 T C 482.24 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.225;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.019;QD=15.07;ReadPosRankSum=-1.263;SNPEFF_AMINO_ACID_CHANGE=D111;SNPEFF_CODON_CHANGE=gaT/gaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_150285480_150285553;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=EIF2A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000406576 GT:AD:DP:GQ:PL 0/1:16,16:32:99:512,0,486
3 150285664 rs2293150 A G 1172.79 PASS AB=0.551;AC=1;AF=0.50;AN=2;BaseQRankSum=0.475;DB;DP=98;Dels=0.0;FS=0.822;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.207;QD=11.97;ReadPosRankSum=1.395;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=EIF2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469331 GT:AD:DP:GQ:PL 0/1:54,44:98:99:1203,0,1550
3 150286210 rs1915945 A T 154.58 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=2.777;DB;DP=13;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=58.55;MQ0=0;MQRankSum=0.811;QD=11.89;ReadPosRankSum=1.369;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=EIF2A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472926 GT:AD:DP:GQ:PL 0/1:6,7:13:99:185,0,210
3 150321015 rs2276759 G A 42.86 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=14.29;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RP11-392O18.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000480740 GT:AD:DP:GQ:PL 0/1:1,2:3:30.98:73,0,31
3 150332199 rs1568586 T G 221.05 PASS AB=0.071;AC=1;AF=0.50;AN=2;BaseQRankSum=1.24;DB;DP=14;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=54.49;MQ0=0;MQRankSum=0.744;QD=15.79;ReadPosRankSum=0.248;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RP11-392O18.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471696 GT:AD:DP:GQ:PL 0/1:1,13:14:3.95:250,0,4
3 150340114 rs2177148 A G 129.95 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.21;MQ0=0;QD=25.99;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RP11-392O18.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471696 GT:AD:DP:GQ:PL 1/1:0,5:5:12.04:162,12,0
3 150341164 rs13097283 T C 50.52 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RP11-392O18.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471696 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
3 150342895 rs1464517 T C 56.31 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.77;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RP11-392O18.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471696 GT:AD:DP:GQ:PL 1/1:0,3:3:9.01:88,9,0
3 150384807 rs6440691 T G 1898.13 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.3;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM194A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295910 GT:AD:DP:GQ:PL 1/1:0,57:57:99:1931,144,0
3 150398810 rs58101508 C T 97.22 PASS AB=0.692;AC=1;AF=0.50;AN=2;BaseQRankSum=0.231;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.54;QD=7.48;ReadPosRankSum=-1.312;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM194A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295910 GT:AD:DP:GQ:PL 0/1:9,4:13:99:127,0,324
3 150420023 . A AC 166.42 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.793;DP=21;FS=3.282;HRun=8;HaplotypeScore=158.7533;IndelType=I;MQ=49.39;MQ0=0;MQRankSum=0.38;QD=7.92;ReadPosRankSum=-0.529;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FAM194A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295910 GT:AD:DP:GQ:PL 0/1:14,7:21:99:205,0,100
3 150588715 rs3732752 A T 84.33 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=0.533;DB;DP=15;Dels=0.0;FS=0.0;HRun=6;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.267;QD=5.62;ReadPosRankSum=-1.467;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=lincRNA;SNPEFF_GENE_NAME=RP11-166N6.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000397891 GT:AD:DP:GQ:PL 0/1:9,6:15:99:114,0,316
3 150603248 rs57919280 G GAAAAGC 1277.61 PASS AB=0.754;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.274;DB;DP=43;FS=5.551;HRun=0;HaplotypeScore=197.3592;IndelType=I;MQ=52.57;MQ0=0;MQRankSum=-4.445;QD=29.71;ReadPosRankSum=2.683;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=antisense;SNPEFF_GENE_NAME=CLRN1-AS1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000476886 GT:AD:DP:GQ:PL 0/1:29,14:43:99:1317,0,1870
3 150635538 rs11408971 C CA 515.88 PASS AB=0.708;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.651;DB;DP=45;FS=11.385;HRun=6;HaplotypeScore=104.3657;IndelType=I;MQ=60.21;MQ0=0;MQRankSum=0.258;QD=11.21;ReadPosRankSum=0.693;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AC020636.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000410147 GT:AD:DP:GQ:PL 0/1:27,19:45:99:555,0,553
3 150661472 rs6764540 A T 503.23 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.2;MQ0=0;QD=38.71;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLRN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295911 GT:AD:DP:GQ:PL 1/1:0,13:13:39.13:536,39,0
3 150661495 rs6801898 T C 197.97 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.788;DB;DP=16;Dels=0.0;FS=3.31;HRun=0;HaplotypeScore=0.0;MQ=58.55;MQ0=0;MQRankSum=-0.053;QD=12.37;ReadPosRankSum=-1.523;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLRN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295911 GT:AD:DP:GQ:PL 0/1:8,8:16:99:228,0,287
3 150690566 rs3796240 T C 416.26 PASS AB=0.133;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.085;DB;DP=15;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.274;QD=27.75;ReadPosRankSum=-0.594;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLRN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328863 GT:AD:DP:GQ:PL 0/1:2,13:15:37.26:446,0,37
3 150804835 rs144250947 C G 163.71 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.866;DB;DP=10;Dels=0.0;FS=3.979;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.633;QD=16.37;ReadPosRankSum=-0.741;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MED12L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273432 GT:AD:DP:GQ:PL 0/1:4,6:10:86.31:194,0,86
3 150804908 rs7653870 T G 40.77 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=20.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MED12L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273432 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:72,6,0
3 150834015 rs4680158 G A 134.49 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.62;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MED12L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273432 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:167,12,0
3 150845574 rs1897296 C T 322.53 PASS AB=0.52;AC=1;AF=0.50;AN=2;BaseQRankSum=0.027;DB;DP=25;Dels=0.0;FS=2.269;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.952;QD=12.9;ReadPosRankSum=1.278;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MED12L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469768 GT:AD:DP:GQ:PL 0/1:13,12:25:99:353,0,435
3 150883777 rs34434571 A AT 470.74 PASS AB=0.703;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.791;DB;DP=45;FS=0.0;HRun=9;HaplotypeScore=106.1642;IndelType=I;MQ=59.04;MQ0=0;MQRankSum=0.464;QD=10.46;ReadPosRankSum=1.447;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MED12L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273432 GT:AD:DP:GQ:PL 0/1:26,18:45:99:510,0,401
3 150903122 rs16863238 G A 342.78 PASS AB=0.581;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.967;DB;DP=31;Dels=0.0;FS=9.037;HRun=0;HaplotypeScore=0.6651;MQ=58.64;MQ0=0;MQRankSum=1.06;QD=11.06;ReadPosRankSum=1.244;SNPEFF_AMINO_ACID_CHANGE=A360;SNPEFF_CODON_CHANGE=gcG/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_150903117_150903248;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MED12L;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000273432 GT:AD:DP:GQ:PL 0/1:18,13:31:99:373,0,432
3 150906062 rs76391037 C T 197.39 PASS AB=0.579;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.362;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.784;QD=10.39;ReadPosRankSum=-0.041;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MED12L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273432 GT:AD:DP:GQ:PL 0/1:11,8:19:99:227,0,408
3 150906420 rs60749276 C A 438.71 PASS AB=0.409;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.536;DB;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.534;QD=19.94;ReadPosRankSum=0.267;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MED12L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273432 GT:AD:DP:GQ:PL 0/1:9,13:22:99:469,0,300
3 150908844 rs2141630 G A 82.47 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.49;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MED12L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273432 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:115,9,0
3 150910640 rs1231520 G C 448.89 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.06;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR171;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309180 GT:AD:DP:GQ:PL 1/1:0,16:16:39.12:482,39,0
3 150910659 rs75144949 G A 138.16 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.312;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.377;QD=10.63;ReadPosRankSum=-1.093;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR171;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309180 GT:AD:DP:GQ:PL 0/1:7,6:13:99:168,0,199
3 150911405 rs3732755 T C 1139.28 PASS AB=0.438;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.158;DB;DP=81;Dels=0.0;FS=0.873;HRun=0;HaplotypeScore=1.5226;MQ=59.77;MQ0=0;MQRankSum=-1.772;QD=14.07;ReadPosRankSum=0.094;SNPEFF_AMINO_ACID_CHANGE=Y559;SNPEFF_CODON_CHANGE=taT/taC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_150911277_150911453;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MED12L;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000273432 GT:AD:DP:GQ:PL 0/1:35,45:81:99:1169,0,1100
3 150916129 rs11431846 G GT 172.76 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=1.116;DB;DP=28;FS=3.01;HRun=14;HaplotypeScore=152.5006;IndelType=I;MQ=57.89;MQ0=0;MQRankSum=1.182;QD=6.17;ReadPosRankSum=0.657;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR171;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000480322 GT:AD:DP:GQ:PL 0/1:15,11:28:99:212,0,146
3 150916327 rs3732756 T C 876.90 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=1.12;DB;DP=75;Dels=0.0;FS=0.922;HRun=0;HaplotypeScore=0.7887;MQ=59.38;MQ0=0;MQRankSum=-1.375;QD=11.69;ReadPosRankSum=0.175;SNPEFF_AMINO_ACID_CHANGE=I283V;SNPEFF_CODON_CHANGE=Atc/Gtc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_150915619_150917226;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR171;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000309180 GT:AD:DP:GQ:PL 0/1:40,35:75:99:907,0,1240
3 150917000 rs3773614 T G 1123.12 PASS AB=0.457;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.497;DB;DP=70;Dels=0.0;FS=2.063;HRun=1;HaplotypeScore=0.734;MQ=59.13;MQ0=0;MQRankSum=0.174;QD=16.04;ReadPosRankSum=-0.415;SNPEFF_AMINO_ACID_CHANGE=T58;SNPEFF_CODON_CHANGE=acA/acC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_150915619_150917226;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR171;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000309180 GT:AD:DP:GQ:PL 0/1:32,38:70:99:1153,0,950
3 151012497 rs2242353 T C 1220.38 PASS AB=0.557;AC=1;AF=0.50;AN=2;BaseQRankSum=2.434;DB;DP=97;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.9733;MQ=59.62;MQ0=0;MQRankSum=0.388;QD=12.58;ReadPosRankSum=-0.277;SNPEFF_AMINO_ACID_CHANGE=L179;SNPEFF_CODON_CHANGE=ctA/ctG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_151011891_151012999;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR87;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000260843 GT:AD:DP:GQ:PL 0/1:54,43:97:99:1250,0,1708
3 151045661 rs1491980 G C 624.32 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.34;MQ0=0;QD=39.02;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MED12L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273432 GT:AD:DP:GQ:PL 1/1:0,16:16:48.16:657,48,0
3 151046308 rs1466684 G A 2221.68 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.933;MQ=59.65;MQ0=0;QD=34.18;SNPEFF_AMINO_ACID_CHANGE=T179M;SNPEFF_CODON_CHANGE=aCg/aTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_151044100_151046795;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=P2RY13;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000325602 GT:AD:DP:GQ:PL 1/1:0,64:65:99:2255,163,0
3 151046604 rs3732757 G T 1478.52 PASS AB=0.505;AC=1;AF=0.50;AN=2;BaseQRankSum=1.278;DB;DP=95;Dels=0.0;FS=0.831;HRun=0;HaplotypeScore=0.0;MQ=59.76;MQ0=0;MQRankSum=0.877;QD=15.56;ReadPosRankSum=0.892;SNPEFF_AMINO_ACID_CHANGE=I80;SNPEFF_CODON_CHANGE=atC/atA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_151044100_151046795;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=P2RY13;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000325602 GT:AD:DP:GQ:PL 0/1:48,47:95:99:1509,0,1475
3 151056598 rs6809699 A C 1037.42 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.25;MQ0=0;QD=33.47;SNPEFF_AMINO_ACID_CHANGE=G12;SNPEFF_CODON_CHANGE=ggT/ggG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_151055168_151056647;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=P2RY12;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000302632 GT:AD:DP:GQ:PL 1/1:0,31:31:81.24:1070,81,0
3 151056616 rs6785930 G A 298.07 PASS AB=0.586;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.332;DB;DP=29;Dels=0.0;FS=1.585;HRun=0;HaplotypeScore=0.0;MQ=58.39;MQ0=0;MQRankSum=-2.192;QD=10.28;ReadPosRankSum=0.244;SNPEFF_AMINO_ACID_CHANGE=N6;SNPEFF_CODON_CHANGE=aaC/aaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_151055168_151056647;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=P2RY12;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000302632 GT:AD:DP:GQ:PL 0/1:17,12:29:99:328,0,533
3 151073033 rs7615865 T C 1746.43 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.55;MQ0=0;QD=34.24;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MED12L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468305 GT:AD:DP:GQ:PL 1/1:0,51:51:99:1779,129,0
3 151073937 rs1994730 T C 106.16 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.54;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MED12L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468305 GT:AD:DP:GQ:PL 1/1:0,4:4:12.03:139,12,0
3 151073997 rs6808091 G A 49.41 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.7;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MED12L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468305 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
3 151074925 rs3732759 A G 531.43 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.66;MQ0=0;QD=37.96;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MED12L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468305 GT:AD:DP:GQ:PL 1/1:0,14:14:42.14:564,42,0
3 151074941 rs3732760 A C 744.83 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.06;MQ0=0;QD=37.24;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MED12L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468305 GT:AD:DP:GQ:PL 1/1:0,20:20:57.19:778,57,0
3 151078026 rs1873622 C A 93.72 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.24;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MED12L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000491549 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:126,9,0
3 151082630 rs3732762 T A 253.87 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.27;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MED12L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273432 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:287,21,0
3 151085578 rs3732764 C A 2487.67 PASS AC=2;AF=1.00;AN=2;DB;DP=73;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.5226;MQ=59.37;MQ0=0;QD=34.08;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MED12L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273432 GT:AD:DP:GQ:PL 1/1:0,73:73:99:2521,184,0
3 151098218 rs9868840 G C 48.57 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.46;MQ0=0;QD=24.28;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MED12L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273432 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:80,6,0
3 151103070 rs4603933 T G 495.93 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.45;MQ0=0;QD=33.06;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MED12L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273432 GT:AD:DP:GQ:PL 1/1:0,15:15:39.13:529,39,0
3 151112568 rs3732768 G A 1040.32 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=0.127;DB;DP=95;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9983;MQ=59.56;MQ0=0;MQRankSum=-0.51;QD=10.95;ReadPosRankSum=2.277;SNPEFF_AMINO_ACID_CHANGE=S1736;SNPEFF_CODON_CHANGE=tcG/tcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_151112444_151112655;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MED12L;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000273432 GT:AD:DP:GQ:PL 0/1:57,38:95:99:1070,0,1742
3 151126834 rs3732769 C G 87.97 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.99;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MED12L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273432 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:120,9,0
3 151128895 rs10935844 T G 36.33 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.026;QD=9.08;ReadPosRankSum=-1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MED12L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273432 GT:AD:DP:GQ:PL 0/1:2,2:4:66.32:66,0,72
3 151128973 rs16863368 C G 138.76 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.52;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.278;QD=12.61;ReadPosRankSum=-0.278;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MED12L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273432 GT:AD:DP:GQ:PL 0/1:4,7:11:99:169,0,138
3 151154666 rs2172250 T C 1836.97 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.6;MQ0=0;QD=32.23;SNPEFF_AMINO_ACID_CHANGE=T2561;SNPEFF_CODON_CHANGE=acA/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_151151282_151156385;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IGSF10;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000282466 GT:AD:DP:GQ:PL 1/1:0,57:57:99:1870,147,0
3 151155620 rs6781302 G A 2806.56 PASS AC=2;AF=1.00;AN=2;DB;DP=82;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.23;SNPEFF_AMINO_ACID_CHANGE=N2243;SNPEFF_CODON_CHANGE=aaC/aaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_151151282_151156385;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IGSF10;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000282466 GT:AD:DP:GQ:PL 1/1:0,82:82:99:2840,211,0
3 151161112 rs12487205 A G 910.07 PASS AB=0.483;AC=1;AF=0.50;AN=2;BaseQRankSum=1.947;DB;DP=58;Dels=0.0;FS=3.751;HRun=0;HaplotypeScore=0.0;MQ=59.28;MQ0=0;MQRankSum=1.093;QD=15.69;ReadPosRankSum=1.98;SNPEFF_AMINO_ACID_CHANGE=Y1875H;SNPEFF_CODON_CHANGE=Tac/Cac;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_151160772_151161672;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IGSF10;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000282466 GT:AD:DP:GQ:PL 0/1:28,30:58:99:940,0,786
3 151165678 rs9871952 T C 1329.01 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9867;MQ=59.36;MQ0=0;QD=36.92;SNPEFF_AMINO_ACID_CHANGE=Q697;SNPEFF_CODON_CHANGE=caA/caG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_151162707_151167053;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IGSF10;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000282466 GT:AD:DP:GQ:PL 1/1:0,36:36:99:1362,102,0
3 151166058 rs17204557 G A 744.99 PASS AB=0.564;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.519;DB;DP=55;Dels=0.0;FS=7.533;HRun=0;HaplotypeScore=0.9665;MQ=60.0;MQ0=0;MQRankSum=-0.806;QD=13.55;ReadPosRankSum=-0.144;SNPEFF_AMINO_ACID_CHANGE=P571S;SNPEFF_CODON_CHANGE=Cct/Tct;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_151162707_151167053;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IGSF10;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000282466 GT:AD:DP:GQ:PL 0/1:31,24:55:99:775,0,1010
3 151166422 rs6798252 C T 816.01 PASS AB=0.525;AC=1;AF=0.50;AN=2;BaseQRankSum=1.104;DB;DP=61;Dels=0.0;FS=4.209;HRun=1;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=0.452;QD=13.38;ReadPosRankSum=0.422;SNPEFF_AMINO_ACID_CHANGE=Q449;SNPEFF_CODON_CHANGE=caG/caA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_151162707_151167053;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IGSF10;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000282466 GT:AD:DP:GQ:PL 0/1:32,29:61:99:846,0,1124
3 151171439 rs7619322 A C 1418.83 PASS AB=0.526;AC=1;AF=0.50;AN=2;BaseQRankSum=3.504;DB;DP=116;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.7303;MQ=59.48;MQ0=0;MQRankSum=0.754;QD=12.23;ReadPosRankSum=-0.851;SNPEFF_AMINO_ACID_CHANGE=Y150D;SNPEFF_CODON_CHANGE=Tat/Gat;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_151171172_151171562;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IGSF10;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000282466 GT:AD:DP:GQ:PL 0/1:61,55:116:99:1449,0,1870
3 151171542 rs7621591 A G 4389.22 PASS AC=2;AF=1.00;AN=2;DB;DP=121;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.66;MQ0=0;QD=36.27;SNPEFF_AMINO_ACID_CHANGE=N115;SNPEFF_CODON_CHANGE=aaT/aaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_151171172_151171562;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IGSF10;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000282466 GT:AD:DP:GQ:PL 1/1:0,121:121:99:4389,316,0
3 151463421 rs1972977 G T 1354.79 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.107;DB;DP=108;Dels=0.0;FS=3.145;HRun=2;HaplotypeScore=0.0;MQ=59.79;MQ0=0;MQRankSum=-0.511;QD=12.54;ReadPosRankSum=-0.447;SNPEFF_AMINO_ACID_CHANGE=A186S;SNPEFF_CODON_CHANGE=Gcg/Tcg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_151463297_151463468;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=AADACL2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000356517 GT:AD:DP:GQ:PL 0/1:60,48:108:99:1385,0,1848
3 151531894 rs2293004 C T 828.79 PASS AB=0.453;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.378;DB;DP=53;Dels=0.0;FS=5.105;HRun=0;HaplotypeScore=1.5678;MQ=60.0;MQ0=0;MQRankSum=1.111;QD=15.64;ReadPosRankSum=-1.606;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_3_151531825_151532088;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AADAC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000232892 GT:AD:DP:GQ:PL 0/1:24,29:53:99:859,0,822
3 151535422 rs2271942 G A 549.18 PASS AB=0.419;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.782;DB;DP=31;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.25;MQ0=0;MQRankSum=-1.501;QD=17.72;ReadPosRankSum=1.341;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AADAC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000232892 GT:AD:DP:GQ:PL 0/1:13,18:31:99:579,0,450
3 151542362 rs12491139 C A 108.80 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.754;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=61.53;MQ0=0;MQRankSum=0.55;QD=15.54;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AADAC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000232892 GT:AD:DP:GQ:PL 0/1:3,4:7:99:139,0,104
3 151542408 rs3073271 AAAAC A 286.64 PASS AB=0.611;AC=1;AF=0.50;AN=2;BaseQRankSum=2.037;DB;DP=11;FS=0.0;HRun=0;HaplotypeScore=68.6198;IndelType=D;MQ=63.82;MQ0=0;MQRankSum=1.769;QD=26.06;ReadPosRankSum=-0.278;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AADAC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000232892 GT:AD:DP:GQ:PL 0/1:4,7:11:99:326,0,265
3 151542737 rs13098550 G A 89.89 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=0.322;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=47.12;MQ0=0;MQRankSum=-1.92;QD=11.24;ReadPosRankSum=0.322;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AADAC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000488869 GT:AD:DP:GQ:PL 0/1:3,5:8:99:120,0,104
3 151545318 rs77824541 A T 164.71 PASS AB=0.591;AC=1;AF=0.50;AN=2;BaseQRankSum=2.255;DB;DP=44;Dels=0.0;FS=5.857;HRun=4;HaplotypeScore=0.9996;MQ=59.48;MQ0=0;MQRankSum=1.307;QD=3.74;ReadPosRankSum=0.615;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AADAC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000488869 GT:AD:DP:GQ:PL 0/1:26,18:44:99:195,0,856
3 151545321 rs113024766 GT G 435.07 PASS AB=0.723;AC=1;AF=0.50;AN=2;BaseQRankSum=5.278;DB;DP=47;FS=0.0;HRun=4;HaplotypeScore=267.9551;IndelType=D;MQ=59.74;MQ0=0;MQRankSum=-0.686;QD=9.26;ReadPosRankSum=0.686;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AADAC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000488869 GT:AD:DP:GQ:PL 0/1:29,18:47:99:474,0,1038
3 151545601 rs1803155 G A 980.42 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.074;DB;DP=72;Dels=0.0;FS=6.407;HRun=0;HaplotypeScore=0.9665;MQ=59.16;MQ0=0;MQRankSum=-0.229;QD=13.62;ReadPosRankSum=-2.074;SNPEFF_AMINO_ACID_CHANGE=V281I;SNPEFF_CODON_CHANGE=Gtt/Att;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_151545364_151546272;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AADAC;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000232892 GT:AD:DP:GQ:PL 0/1:36,36:72:99:1010,0,1139
3 151546041 rs1042201 G A 95.27 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.72;DB;DP=6;Dels=0.0;FS=4.771;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.72;QD=15.88;ReadPosRankSum=0.72;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AADAC;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000488869 GT:AD:DP:GQ:PL 0/1:2,4:6:66.42:125,0,66
3 152150337 rs6804771 T G 93.86 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=1.256;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.55;MQ0=0;MQRankSum=0.212;QD=7.22;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=MBNL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000282486 GT:AD:DP:GQ:PL 0/1:8,5:13:99:124,0,282
3 153839866 rs12493885 G C 649.07 PASS AB=0.391;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.072;DB;DP=48;Dels=0.0;FS=3.132;HRun=0;HaplotypeScore=4.8965;MQ=59.03;MQ0=0;MQRankSum=1.072;QD=13.52;ReadPosRankSum=-0.49;SNPEFF_AMINO_ACID_CHANGE=V29L;SNPEFF_CODON_CHANGE=Gtt/Ctt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_153839731_153840864;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF26;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000356448 GT:AD:DP:GQ:PL 0/1:18,28:48:99:679,0,538
3 153842161 rs66618151 CT C 54.95 QDFilter2 AB=0.848;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.308;DB;DP=67;FS=0.0;HRun=18;HaplotypeScore=568.5023;IndelType=D;MQ=48.2;MQ0=0;MQRankSum=0.199;QD=0.82;ReadPosRankSum=-0.652;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF26;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356448 GT:AD:DP:GQ:PL 0/1:50,11:67:93.98:94,0,526
3 153842179 . TA T 98.66 QDFilter2 AB=0.92;AC=1;AF=0.50;AN=2;BaseQRankSum=2.073;DP=69;FS=20.007;HRun=1;HaplotypeScore=549.5111;IndelType=D;MQ=48.58;MQ0=0;MQRankSum=-0.672;QD=1.43;ReadPosRankSum=-0.361;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF26;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356448 GT:AD:DP:GQ:PL 0/1:63,5:69:99:138,0,731
3 153847582 rs1626280 T A 520.25 PASS AB=0.441;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.677;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.59;QD=15.3;ReadPosRankSum=-1.491;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF26;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356448 GT:AD:DP:GQ:PL 0/1:15,19:34:99:550,0,542
3 153867036 rs10541456 AAATT A 169.65 PASS AB=0.769;AC=1;AF=0.50;AN=2;BaseQRankSum=2.731;DB;DP=20;FS=0.0;HRun=0;HaplotypeScore=83.177;IndelType=D;MQ=54.55;MQ0=0;MQRankSum=-1.157;QD=8.48;ReadPosRankSum=-1.435;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF26;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356448 GT:AD:DP:GQ:PL 0/1:14,6:20:99:209,0,1069
3 153870407 rs1727957 G A 48.77 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF26;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356448 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:80,6,0
3 153870511 rs1727956 G A 208.35 PASS AB=0.579;AC=1;AF=0.50;AN=2;BaseQRankSum=1.445;DB;DP=19;Dels=0.0;FS=3.757;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.94;QD=10.97;ReadPosRankSum=-0.702;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF26;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356448 GT:AD:DP:GQ:PL 0/1:11,8:19:99:238,0,394
3 153970796 rs355752 A G 489.19 PASS AB=0.348;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.032;DB;DP=23;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.29;QD=21.27;ReadPosRankSum=0.032;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF26;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356448 GT:AD:DP:GQ:PL 0/1:8,15:23:99:519,0,251
3 153972500 rs355749 T C 2501.65 PASS AB=0.503;AC=1;AF=0.50;AN=2;BaseQRankSum=1.202;DB;DP=191;Dels=0.0;FS=18.441;HRun=0;HaplotypeScore=1.565;MQ=59.64;MQ0=0;MQRankSum=1.178;QD=13.1;ReadPosRankSum=1.635;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF26;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356448 GT:AD:DP:GQ:PL 0/1:96,95:191:99:2532,0,2869
3 153973408 rs3172332 T C 231.84 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.065;DB;DP=18;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.666;QD=12.88;ReadPosRankSum=0.578;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ARHGEF26;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465817 GT:AD:DP:GQ:PL 0/1:8,10:18:99:262,0,270
3 154000755 rs714484 G A 51.22 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.61;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DHX36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481332 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
3 154002357 rs71958296 A AT 122.91 PASS AB=0.742;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.858;DB;DP=23;FS=0.0;HRun=12;HaplotypeScore=54.4114;IndelType=I;MQ=60.93;MQ0=0;MQRankSum=0.454;QD=5.34;ReadPosRankSum=-0.206;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DHX36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481332 GT:AD:DP:GQ:PL 0/1:15,7:23:99:162,0,184
3 154007682 rs355758 G C 136.57 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.614;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9159;MQ=60.0;MQ0=0;MQRankSum=0.71;QD=9.75;ReadPosRankSum=-0.71;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DHX36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000308361 GT:AD:DP:GQ:PL 0/1:8,6:14:99:167,0,250
3 154010515 rs113203999 AACACAC A 341.87 PASS AB=0.762;AC=1;AF=0.50;AN=2;BaseQRankSum=0.906;DB;DP=32;FS=0.0;HRun=0;HaplotypeScore=201.996;IndelType=D;MQ=51.49;MQ0=0;MQRankSum=-3.532;QD=10.68;ReadPosRankSum=0.996;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DHX36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000308361 GT:AD:DP:GQ:PL 0/1:22,7:32:99:381,0,812
3 154018690 rs3732652 G A 592.33 PASS AB=0.558;AC=1;AF=0.50;AN=2;BaseQRankSum=5.344;DB;DP=43;Dels=0.0;FS=2.356;HRun=0;HaplotypeScore=1.9945;MQ=59.57;MQ0=0;MQRankSum=0.183;QD=13.78;ReadPosRankSum=-0.55;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DHX36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460875 GT:AD:DP:GQ:PL 0/1:24,19:43:99:622,0,697
3 154021063 rs355756 G A 275.48 PASS AB=0.522;AC=1;AF=0.50;AN=2;BaseQRankSum=2.955;DB;DP=23;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=58.99;MQ0=0;MQRankSum=-0.722;QD=11.98;ReadPosRankSum=-0.46;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DHX36;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460875 GT:AD:DP:GQ:PL 0/1:12,11:23:99:305,0,377
3 154801832 rs56208271 G A 159.73 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.408;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.87;MQ0=0;MQRankSum=-1.749;QD=14.52;ReadPosRankSum=-0.825;SNPEFF_EFFECT=SPLICE_SITE_DONOR;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MME;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000462837 GT:AD:DP:GQ:PL 0/1:5,6:11:99:190,0,174
3 154834379 rs10522735 G GTATATATATA 874.38 PASS AC=2;AF=1.00;AN=2;DB;DP=21;FS=0.0;HRun=0;HaplotypeScore=174.3118;IndelType=I;MQ=47.0;MQ0=0;QD=41.64;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MME;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473730 GT:AD:DP:GQ:PL 1/1:13,5:21:29.77:916,30,0
3 154855722 rs142771935 ACTGT A 714.19 PASS AC=2;AF=1.00;AN=2;DB;DP=13;FS=0.0;HRun=0;HaplotypeScore=73.9913;IndelType=D;MQ=52.33;MQ0=0;QD=54.94;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MME;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360490 GT:AD:DP:GQ:PL 1/1:0,13:13:39.13:756,39,0
3 154862390 rs6797911 T A 317.89 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MME;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360490 GT:AD:DP:GQ:PL 1/1:0,9:9:27.09:351,27,0
3 154866453 rs1436633 T C 2483.54 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.489;DB;DP=78;Dels=0.0;FS=6.133;HRun=1;HaplotypeScore=2.5613;MQ=60.0;MQ0=0;MQRankSum=0.355;QD=31.84;ReadPosRankSum=-1.643;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MME;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360490 GT:AD:DP:GQ:PL 1/1:1,77:78:99:2517,157,0
3 154866545 rs1436632 A C 353.55 PASS AB=0.071;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.736;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.66;MQ0=0;MQRankSum=0.496;QD=25.25;ReadPosRankSum=-1.24;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MME;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360490 GT:AD:DP:GQ:PL 0/1:1,13:14:3.54:383,0,4
3 154878158 rs35450782 GA G 4848.91 PASS AC=2;AF=1.00;AN=2;DB;DP=118;FS=0.0;HRun=3;HaplotypeScore=336.8425;IndelType=D;MQ=60.08;MQ0=0;QD=41.09;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MME;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000360490 GT:AD:DP:GQ:PL 1/1:2,116:118:99:4849,349,0
3 154890206 rs3816803 G A 789.31 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.59;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MME;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000495577 GT:AD:DP:GQ:PL 1/1:0,21:21:63.18:822,63,0
3 154890512 rs72530325 C CT 87.73 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.742;DB;DP=13;FS=0.0;HRun=14;HaplotypeScore=82.2502;IndelType=I;MQ=57.59;MQ0=0;MQRankSum=0.742;QD=6.75;ReadPosRankSum=0.742;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MME;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000495577 GT:AD:DP:GQ:PL 1/1:7,5:13:1.59:126,2,0
3 155205993 rs63670961 C CT 108.32 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.717;DB;DP=14;FS=0.0;HRun=11;HaplotypeScore=59.9732;IndelType=I;MQ=59.53;MQ0=0;MQRankSum=0.143;QD=7.74;ReadPosRankSum=-1.532;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLCH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469040 GT:AD:DP:GQ:PL 0/1:8,6:14:82.81:147,0,83
3 155212325 rs11385637 G GA 1192.28 PASS AC=2;AF=1.00;AN=2;DB;DP=36;FS=0.0;HRun=6;HaplotypeScore=83.2481;IndelType=I;MQ=60.6;MQ0=0;QD=33.12;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLCH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334686 GT:AD:DP:GQ:PL 1/1:5,31:36:99:1234,99,0
3 155241593 rs9840061 A G 821.28 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.85;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLCH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334686 GT:AD:DP:GQ:PL 1/1:0,25:25:72.21:854,72,0
3 155241740 rs9840234 A G 3368.08 PASS AC=2;AF=1.00;AN=2;DB;DP=105;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.56;MQ0=0;QD=32.08;SNPEFF_AMINO_ACID_CHANGE=S442;SNPEFF_CODON_CHANGE=tcT/tcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_155241686_155241793;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLCH1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000334686 GT:AD:DP:GQ:PL 1/1:0,105:105:99:3368,262,0
3 155241885 rs6440996 G A 275.89 PASS AB=0.524;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.584;DB;DP=21;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.106;QD=13.14;ReadPosRankSum=1.796;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLCH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334686 GT:AD:DP:GQ:PL 0/1:11,10:21:99:306,0,400
3 155241900 rs6440997 G A 265.15 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.536;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.536;QD=22.1;ReadPosRankSum=-0.536;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLCH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334686 GT:AD:DP:GQ:PL 0/1:4,8:12:99:295,0,129
3 155267460 rs359542 T A 37.98 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.231;QD=7.6;ReadPosRankSum=-0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLCH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334686 GT:AD:DP:GQ:PL 0/1:2,3:5:67.97:68,0,71
3 155271825 rs359549 G A 399.56 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=3.594;DB;DP=36;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.289;QD=11.1;ReadPosRankSum=-0.417;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLCH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334686 GT:AD:DP:GQ:PL 0/1:21,15:36:99:430,0,577
3 155272203 rs359550 G A 49.09 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLCH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334686 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:80,6,0
3 155282570 rs2304406 T A 130.75 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.922;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.62;MQ0=0;MQRankSum=0.198;QD=18.68;ReadPosRankSum=-0.198;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLCH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334686 GT:AD:DP:GQ:PL 0/1:2,5:7:61.93:161,0,62
3 155285836 rs498378 C G 48.74 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLCH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334686 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:80,6,0
3 155314034 rs359569 A G 2043.90 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=0.296;DB;DP=156;Dels=0.0;FS=0.62;HRun=0;HaplotypeScore=3.1564;MQ=59.56;MQ0=0;MQRankSum=0.196;QD=13.1;ReadPosRankSum=1.731;SNPEFF_AMINO_ACID_CHANGE=S41;SNPEFF_CODON_CHANGE=agT/agC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_155314021_155314167;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLCH1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000334686 GT:AD:DP:GQ:PL 0/1:84,72:156:99:2074,0,2318
3 155481609 rs7653384 G A 940.09 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.987;DB;DP=64;Dels=0.0;FS=18.587;HRun=1;HaplotypeScore=0.9997;MQ=59.42;MQ0=0;MQRankSum=0.638;QD=14.69;ReadPosRankSum=0.262;SNPEFF_AMINO_ACID_CHANGE=Y151;SNPEFF_CODON_CHANGE=taC/taT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_155480401_155481707;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=C3orf33;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000534941 GT:AD:DP:GQ:PL 0/1:32,32:64:99:970,0,1042
3 155485302 rs358733 C T 1439.81 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.49;MQ0=0;QD=32.0;SNPEFF_AMINO_ACID_CHANGE=S117N;SNPEFF_CODON_CHANGE=aGt/aAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_155485298_155485458;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=C3orf33;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000534941 GT:AD:DP:GQ:PL 1/1:0,45:45:99:1473,108,0
3 155551990 rs6809229 G A 129.23 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.31;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC33A1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359479 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:162,12,0
3 155611557 rs6441026 T G 989.01 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.28;MQ0=0;QD=30.91;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GMPS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295920 GT:AD:DP:GQ:PL 1/1:0,31:32:81.23:1022,81,0
3 155636795 rs3821365 A T 40.99 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=53.44;MQ0=0;QD=13.66;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GMPS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295920 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:72,6,0
3 155654017 rs10804774 C T 774.40 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GMPS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295920 GT:AD:DP:GQ:PL 1/1:0,20:20:60.19:807,60,0
3 155654432 rs3772113 T A 584.30 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.56;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GMPS;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295920 GT:AD:DP:GQ:PL 1/1:0,22:22:60.13:617,60,0
3 155744312 rs34533513 T G 1762.03 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;QD=33.25;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unitary_pseudogene;SNPEFF_GENE_NAME=AC067721.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000449668 GT:AD:DP:GQ:PL 1/1:0,53:53:99:1795,138,0
3 155746822 rs4680229 T C 1034.71 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=2.752;MQ=60.0;MQ0=0;QD=31.35;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=unitary_pseudogene;SNPEFF_GENE_NAME=AC067721.2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000449668 GT:AD:DP:GQ:PL 1/1:0,33:33:90.23:1068,90,0
3 155755221 rs9810320 A G 2054.25 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.7;MQ0=0;QD=33.68;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KCNAB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472028 GT:AD:DP:GQ:PL 1/1:0,61:61:99:2087,163,0
3 155761761 rs112901208 C CT 72.93 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=6;FS=0.0;HRun=14;HaplotypeScore=55.8756;IndelType=I;MQ=49.37;MQ0=0;MQRankSum=-0.736;QD=12.15;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KCNAB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472028 GT:AD:DP:GQ:PL 0/1:1,5:6:1.21:111,0,1
3 155838286 . A G 32.69 QDFilter2 AB=0.326;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.739;DP=46;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=4.0376;MQ=43.14;MQ0=0;MQRankSum=-2.852;QD=0.71;ReadPosRankSum=0.035;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KCNAB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472028 GT:AD:DP:GQ:PL 0/1:15,31:46:62.68:63,0,174
3 155838900 rs1488425 A G 50.30 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.15;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KCNAB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389636 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
3 156009614 rs2290165 A G 377.09 PASS AB=0.318;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.736;DB;DP=23;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.97;MQ0=0;MQRankSum=0.423;QD=16.4;ReadPosRankSum=0.846;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KCNAB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000389636 GT:AD:DP:GQ:PL 0/1:7,15:23:99:407,0,221
3 156009925 rs1551066 C T 390.64 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=3.469;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9958;MQ=60.0;MQ0=0;MQRankSum=-0.069;QD=13.95;ReadPosRankSum=1.401;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KCNAB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302490 GT:AD:DP:GQ:PL 0/1:14,14:28:99:421,0,359
3 156249407 rs2280030 G C 774.58 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.11;MQ0=0;QD=29.79;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KCNAB1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000302490 GT:AD:DP:GQ:PL 1/1:0,26:26:69.19:808,69,0
3 156266642 rs6809188 C T 610.26 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;QD=32.12;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SSR3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265044 GT:AD:DP:GQ:PL 1/1:0,18:19:48.16:643,48,0
3 156266880 rs3773716 C T 268.82 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SSR3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265044 GT:AD:DP:GQ:PL 1/1:0,9:9:24.06:302,24,0
3 156395329 rs345986 G T 65.27 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.406;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.406;QD=10.88;ReadPosRankSum=0.406;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TIPARP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295924 GT:AD:DP:GQ:PL 0/1:3,3:6:95.26:95,0,95
3 156411732 rs193197 A G 282.83 PASS AB=0.524;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.444;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9995;MQ=60.0;MQ0=0;MQRankSum=-2.218;QD=13.47;ReadPosRankSum=0.458;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TIPARP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295924 GT:AD:DP:GQ:PL 0/1:11,10:21:99:313,0,405
3 156413615 rs10631452 C CT 362.14 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.678;DB;DP=30;FS=0.0;HRun=17;HaplotypeScore=262.9312;IndelType=I;MQ=43.04;MQ0=0;MQRankSum=-0.377;QD=12.07;ReadPosRankSum=1.131;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TIPARP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295924 GT:AD:DP:GQ:PL 1/1:18,9:30:54.01:404,54,0
3 156413633 rs112709851 G C 152.15 PASS AB=0.364;AC=1;AF=0.50;AN=2;BaseQRankSum=0.278;DB;DP=35;Dels=0.0;FS=4.393;HRun=0;HaplotypeScore=7.2811;MQ=45.85;MQ0=0;MQRankSum=0.597;QD=4.35;ReadPosRankSum=0.278;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TIPARP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295924 GT:AD:DP:GQ:PL 0/1:4,7:35:99:182,0,105
3 156413918 rs344016 T C 464.56 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=58.55;MQ0=0;QD=29.03;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TIPARP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295924 GT:AD:DP:GQ:PL 1/1:0,16:16:39.12:498,39,0
3 156422307 rs344052 T C 79.59 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=53.44;MQ0=0;QD=26.53;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TIPARP;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473702 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:112,9,0
3 156431750 rs61733487 A G 1705.60 MQFilter40 AC=2;AF=1.00;AN=2;DB;DP=80;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9578;MQ=31.65;MQ0=6;QD=21.32;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=METTL15P1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000447575 GT:AD:DP:GQ:PL 1/1:0,80:80:99:1739,147,0
3 156544584 rs344071 C T 1657.56 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.14;MQ0=0;QD=30.7;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LEKR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356539 GT:AD:DP:GQ:PL 1/1:0,54:54:99:1691,132,0
3 156711205 rs77626414 T C 44.97 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=14.99;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LEKR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000356539 GT:AD:DP:GQ:PL 0/1:1,2:3:33.62:75,0,34
3 156867776 rs76269282 G GAA 2610.98 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.328;DB;DP=64;FS=0.0;HRun=8;HaplotypeScore=174.8571;IndelType=I;MQ=59.96;MQ0=0;MQRankSum=-0.231;QD=40.8;ReadPosRankSum=1.444;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCNL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000464575 GT:AD:DP:GQ:PL 1/1:5,56:64:99:2653,146,0
3 156870059 rs73154633 C T 2690.90 PASS AC=2;AF=1.00;AN=2;DB;DP=77;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.7;MQ0=0;QD=34.95;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCNL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295925 GT:AD:DP:GQ:PL 1/1:0,77:77:99:2724,202,0
3 156870816 rs41272613 A G 2275.72 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.8857;MQ=59.7;MQ0=0;QD=36.12;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCNL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295925 GT:AD:DP:GQ:PL 1/1:0,63:63:99:2309,169,0
3 156876502 rs6441114 G A 127.83 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.96;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCNL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466101 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:160,12,0
3 156876574 rs6441115 A G 396.67 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.06;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCNL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466101 GT:AD:DP:GQ:PL 1/1:0,11:11:33.11:430,33,0
3 156876803 rs6441116 T G 693.89 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.84;MQ0=0;QD=34.69;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCNL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295925 GT:AD:DP:GQ:PL 1/1:0,20:20:54.16:727,54,0
3 156877276 rs35011625 CAA C 1671.45 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.641;DB;DP=42;FS=0.0;HRun=2;HaplotypeScore=206.7169;IndelType=D;MQ=58.14;MQ0=0;MQRankSum=1.368;QD=39.8;ReadPosRankSum=-0.091;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCNL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295925 GT:AD:DP:GQ:PL 1/1:1,41:42:53.37:1713,53,0
3 156877357 rs10936061 T C 142.97 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=50.18;MQ0=0;QD=15.89;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCNL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295925 GT:AD:DP:GQ:PL 1/1:0,9:9:15.04:176,15,0
3 156877530 rs12635088 G A 123.94 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.98;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCNL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295925 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:156,12,0
3 156978919 rs35386937 A AT 2612.40 PASS AC=2;AF=1.00;AN=2;DB;DP=63;FS=0.0;HRun=1;HaplotypeScore=151.3845;IndelType=I;MQ=59.79;MQ0=0;QD=41.47;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VEPH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000362010 GT:AD:DP:GQ:PL 1/1:2,61:63:99:2654,178,0
3 156983273 rs3749214 A G 1097.99 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.5773;MQ=59.5;MQ0=0;QD=29.68;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VEPH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000362010 GT:AD:DP:GQ:PL 1/1:0,36:37:87.28:1131,87,0
3 156983414 rs7652298 T C 2040.71 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.59;SNPEFF_AMINO_ACID_CHANGE=K677;SNPEFF_CODON_CHANGE=aaA/aaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_156983315_156983451;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VEPH1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000392833 GT:AD:DP:GQ:PL 1/1:0,59:59:99:2074,157,0
3 157004141 rs4680352 G A 1278.24 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.6;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VEPH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000362010 GT:AD:DP:GQ:PL 1/1:0,34:34:99:1311,102,0
3 157004323 rs4680353 A C 7526.24 PASS AC=2;AF=1.00;AN=2;DB;DP=238;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.5173;MQ=59.9;MQ0=0;QD=31.62;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=VEPH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000362010 GT:AD:DP:GQ:PL 1/1:1,236:238:99:7526,575,0
3 157260961 rs6441135 T G 84.34 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.11;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=C3orf55;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000312275 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:116,9,0
3 157817517 rs9833383 A G 214.86 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.81;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SHOX2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000554685 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:248,18,0
3 157820423 rs4462902 C T 465.21 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.01;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SHOX2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000554685 GT:AD:DP:GQ:PL 1/1:0,15:15:39.12:498,39,0
3 158178856 rs73172119 G A 785.26 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=39.26;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RSRC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471994 GT:AD:DP:GQ:PL 1/1:0,20:20:60.20:818,60,0
3 158254806 rs73154326 A G 659.65 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.98;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RSRC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295930 GT:AD:DP:GQ:PL 1/1:0,20:20:54.17:693,54,0
3 158308875 rs2566339 T C 1106.06 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.32;MQ0=0;QD=31.6;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MLF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355893 GT:AD:DP:GQ:PL 1/1:0,35:35:87.27:1139,87,0
3 158308947 . TC T 111.02 PASS AB=0.7;AC=1;AF=0.50;AN=2;BaseQRankSum=2.608;DP=21;FS=31.46;HRun=1;HaplotypeScore=163.7308;IndelType=D;MQ=57.38;MQ0=0;MQRankSum=-1.096;QD=5.29;ReadPosRankSum=-1.323;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MLF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355893 GT:AD:DP:GQ:PL 0/1:12,9:21:99:150,0,198
3 158310153 rs6771248 A G 741.26 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.23;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MLF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355893 GT:AD:DP:GQ:PL 1/1:0,23:23:60.15:774,60,0
3 158310483 rs6780477 G T 274.28 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.28;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MLF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355893 GT:AD:DP:GQ:PL 1/1:0,8:8:24.05:307,24,0
3 158314810 rs45471897 C G 199.46 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.05;MQ0=0;QD=24.93;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MLF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355893 GT:AD:DP:GQ:PL 1/1:0,8:8:18.04:232,18,0
3 158314846 rs55999561 A G 136.79 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.2;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MLF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355893 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:169,12,0
3 158318015 rs2639656 C T 1115.40 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.98;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MLF1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466246 GT:AD:DP:GQ:PL 1/1:0,31:31:87.26:1148,87,0
3 158320597 rs4875 T C 972.67 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.41;SNPEFF_AMINO_ACID_CHANGE=S116;SNPEFF_CODON_CHANGE=agT/agC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_158320596_158320728;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MLF1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000491767 GT:AD:DP:GQ:PL 1/1:0,26:26:75.24:1006,75,0
3 158320703 rs77911695 C A 1326.76 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.02;SNPEFF_AMINO_ACID_CHANGE=P152T;SNPEFF_CODON_CHANGE=Cct/Act;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_158320596_158320728;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MLF1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000491767 GT:AD:DP:GQ:PL 1/1:0,39:39:99:1360,102,0
3 158362441 rs1864507 T C 176.22 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;QD=25.17;SNPEFF_AMINO_ACID_CHANGE=A6;SNPEFF_CODON_CHANGE=gcT/gcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_158362386_158362504;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GFM1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000264263 GT:AD:DP:GQ:PL 1/1:0,7:7:18.05:209,18,0
3 158366900 rs2303909 G A 2457.73 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.24;SNPEFF_AMINO_ACID_CHANGE=V215I;SNPEFF_CODON_CHANGE=Gta/Ata;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_158366830_158366946;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GFM1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000264263 GT:AD:DP:GQ:PL 1/1:0,66:66:99:2491,184,0
3 158378847 rs2291595 A G 838.95 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.99;MQ0=0;QD=36.48;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GFM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000312756 GT:AD:DP:GQ:PL 1/1:0,23:23:69.22:872,69,0
3 158384883 rs4680455 C A 197.25 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.18;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GFM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000490261 GT:AD:DP:GQ:PL 1/1:0,7:7:18.06:230,18,0
3 158388780 rs8455 T C 694.83 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.0;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.156;QD=28.95;ReadPosRankSum=-1.445;SNPEFF_AMINO_ACID_CHANGE=H53R;SNPEFF_CODON_CHANGE=cAc/cGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_158388746_158388808;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LXN;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000264265 GT:AD:DP:GQ:PL 1/1:1,23:24:20.19:728,20,0
3 158415344 rs1051109 T C 501.22 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.77;MQ0=0;QD=35.8;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GFM1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264263 GT:AD:DP:GQ:PL 1/1:0,14:14:42.13:534,42,0
3 158415402 rs10577754 TAGA T 1719.31 PASS AC=2;AF=1.00;AN=2;DB;DP=39;FS=0.0;HRun=0;HaplotypeScore=200.3754;IndelType=D;MQ=54.4;MQ0=0;QD=44.08;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RARRES1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462663 GT:AD:DP:GQ:PL 1/1:3,36:39:99:1761,108,0
3 158422506 rs4680457 G A 549.73 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.36;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RARRES1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471444 GT:AD:DP:GQ:PL 1/1:0,16:16:42.14:583,42,0
3 158428809 rs3830357 A AAGGC 377.47 PASS AB=0.818;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.016;DB;DP=27;FS=0.0;HRun=0;HaplotypeScore=104.4519;IndelType=I;MQ=56.49;MQ0=0;MQRankSum=-1.2;QD=13.98;ReadPosRankSum=0.101;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RARRES1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000237696 GT:AD:DP:GQ:PL 0/1:21,6:27:99:416,0,316
3 158537415 rs112642724 CTTTTT C 307.71 PASS AB=0.697;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.14;DB;DP=23;FS=0.0;HRun=16;HaplotypeScore=247.2672;IndelType=D;MQ=42.78;MQ0=0;MQRankSum=-2.963;QD=13.38;ReadPosRankSum=1.899;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MFSD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264266 GT:AD:DP:GQ:PL 0/1:13,9:23:99:347,0,510
3 158537431 . TA T 145.86 PASS AB=0.774;AC=1;AF=0.50;AN=2;BaseQRankSum=1.083;DP=24;FS=21.444;HRun=1;HaplotypeScore=236.3313;IndelType=D;MQ=43.63;MQ0=0;MQRankSum=-0.732;QD=6.08;ReadPosRankSum=-1.61;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MFSD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264266 GT:AD:DP:GQ:PL 0/1:17,7:24:99:185,0,263
3 158537443 rs3765083 A G 323.42 PASS AB=0.433;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.715;DB;DP=30;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.362;MQ=48.32;MQ0=0;MQRankSum=-3.046;QD=10.78;ReadPosRankSum=-0.455;SNPEFF_AMINO_ACID_CHANGE=I144V;SNPEFF_CODON_CHANGE=Ata/Gta;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_158537438_158537536;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MFSD1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000361159 GT:AD:DP:GQ:PL 0/1:13,17:30:99:353,0,187
3 158538056 rs4680469 T C 929.25 PASS AB=0.514;AC=1;AF=0.50;AN=2;BaseQRankSum=2.062;DB;DP=70;Dels=0.0;FS=6.352;HRun=0;HaplotypeScore=1.5783;MQ=60.0;MQ0=0;MQRankSum=1.627;QD=13.28;ReadPosRankSum=-0.535;SNPEFF_AMINO_ACID_CHANGE=L102;SNPEFF_CODON_CHANGE=ctT/ctC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_158538004_158538115;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MFSD1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000477743 GT:AD:DP:GQ:PL 0/1:36,34:70:99:959,0,1157
3 158539294 rs1548092 G A 450.71 PASS AB=0.448;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.899;DB;DP=29;Dels=0.0;FS=3.08;HRun=1;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=0.11;QD=15.54;ReadPosRankSum=-1.732;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MFSD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000489639 GT:AD:DP:GQ:PL 0/1:13,16:29:99:481,0,432
3 158539496 rs41272623 A G 721.17 PASS AB=0.457;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.024;DB;DP=46;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.5;MQ0=0;MQRankSum=1.445;QD=15.68;ReadPosRankSum=-2.606;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MFSD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000489639 GT:AD:DP:GQ:PL 0/1:21,25:46:99:751,0,555
3 158970714 rs1020470 T C 85.80 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.365;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.365;QD=8.58;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=IQCJ-SCHIP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471575 GT:AD:DP:GQ:PL 0/1:6,4:10:99:116,0,214
3 158980193 rs1449008 T A 62.95 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=0.956;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.322;QD=7.87;ReadPosRankSum=0.322;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=IQCJ-SCHIP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471575 GT:AD:DP:GQ:PL 0/1:5,3:8:92.94:93,0,181
3 158980279 rs1449007 A G 314.34 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=0.837;DB;DP=32;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=2.346;MQ=58.55;MQ0=0;MQRankSum=-1.187;QD=9.82;ReadPosRankSum=0.876;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=IQCJ-SCHIP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471575 GT:AD:DP:GQ:PL 0/1:20,12:32:99:344,0,676
3 158980745 rs2621309 G C 90.01 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=IQCJ;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000481796 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:122,9,0
3 158991724 rs2621285 A T 439.90 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.84;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=IQCJ-SCHIP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000337808 GT:AD:DP:GQ:PL 1/1:0,13:13:36.10:473,36,0
3 159604214 rs33055 T C 480.31 PASS AB=0.414;AC=1;AF=0.50;AN=2;BaseQRankSum=0.155;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.2;MQ0=0;MQRankSum=-0.199;QD=16.56;ReadPosRankSum=-0.376;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SCHIP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461058 GT:AD:DP:GQ:PL 0/1:12,17:29:99:510,0,412
3 159614478 rs9812520 A G 291.79 PASS AB=0.649;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.898;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.054;QD=7.89;ReadPosRankSum=-0.593;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=IQCJ-SCHIP1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460298 GT:AD:DP:GQ:PL 0/1:24,13:37:99:322,0,780
3 159712993 rs2243135 G C 44.97 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=14.99;ReadPosRankSum=0.736;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL12A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000480088 GT:AD:DP:GQ:PL 0/1:1,2:3:31.62:75,0,32
3 159713087 rs2243136 T C 335.05 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.849;DB;DP=16;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8667;MQ=58.55;MQ0=0;MQRankSum=1.763;QD=20.94;ReadPosRankSum=1.11;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IL12A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000480088 GT:AD:DP:GQ:PL 0/1:4,12:16:99:365,0,125
3 159976432 rs72196436 G GA 143.09 PASS AB=0.804;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.68;DB;DP=37;FS=2.572;HRun=10;HaplotypeScore=95.2974;IndelType=I;MQ=59.38;MQ0=0;MQRankSum=-0.51;QD=3.87;ReadPosRankSum=0.132;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IFT80;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326448 GT:AD:DP:GQ:PL 0/1:27,8:37:99:182,0,535
3 159994945 rs10936199 T C 61.52 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.322;DB;DP=8;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.63;MQ0=0;MQRankSum=0.956;QD=7.69;ReadPosRankSum=-0.956;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IFT80;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326448 GT:AD:DP:GQ:PL 0/1:5,3:8:91.51:92,0,177
3 159995356 rs3737214 A G 1046.89 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.535;DB;DP=63;Dels=0.0;FS=9.128;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.646;QD=16.62;ReadPosRankSum=-0.493;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IFT80;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326448 GT:AD:DP:GQ:PL 0/1:27,36:63:99:1077,0,782
3 159997061 rs6778728 T A 919.80 PASS AB=0.388;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.288;DB;DP=49;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.53;MQ0=0;MQRankSum=0.415;QD=18.77;ReadPosRankSum=-0.245;SNPEFF_AMINO_ACID_CHANGE=T449S;SNPEFF_CODON_CHANGE=Aca/Tca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_159996981_159997152;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IFT80;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000483465 GT:AD:DP:GQ:PL 0/1:19,30:49:99:950,0,578
3 160021681 rs4680576 G A 568.56 PASS AB=0.435;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.0;DB;DP=46;Dels=0.0;FS=1.256;HRun=1;HaplotypeScore=0.0;MQ=59.59;MQ0=0;MQRankSum=-0.343;QD=12.36;ReadPosRankSum=-0.011;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IFT80;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461213 GT:AD:DP:GQ:PL 0/1:20,26:46:99:599,0,554
3 160025287 rs6790951 C T 125.77 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.749;DB;DP=11;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.532;QD=11.43;ReadPosRankSum=-0.466;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=IFT80;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000326448 GT:AD:DP:GQ:PL 0/1:5,6:11:99:156,0,182
3 160119525 rs41272947 G A 123.90 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.731;QD=24.78;ReadPosRankSum=0.731;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMC4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000344722 GT:AD:DP:GQ:PL 0/1:1,4:5:21.93:154,0,22
3 160130110 rs2305407 G A 456.60 PASS AB=0.55;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.992;DB;DP=40;Dels=0.0;FS=4.859;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.911;QD=11.42;ReadPosRankSum=0.041;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMC4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467468 GT:AD:DP:GQ:PL 0/1:22,18:40:99:487,0,740
3 160131055 rs56322040 G A 33.83 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=5.64;ReadPosRankSum=-0.72;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMC4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467468 GT:AD:DP:GQ:PL 0/1:4,2:6:63.82:64,0,120
3 160135428 rs1451760 C T 39.73 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.026;QD=9.93;ReadPosRankSum=-1.026;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMC4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000392788 GT:AD:DP:GQ:PL 0/1:2,2:4:69.73:70,0,74
3 160142554 rs41272957 C T 175.35 PASS AB=0.143;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.742;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.742;QD=25.05;ReadPosRankSum=0.742;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMC4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000497203 GT:AD:DP:GQ:PL 0/1:1,6:7:21.17:205,0,21
3 160142618 rs11718121 A C 266.31 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=3.644;DB;DP=28;Dels=0.0;FS=2.049;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.395;QD=9.51;ReadPosRankSum=-0.534;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SMC4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000497203 GT:AD:DP:GQ:PL 0/1:16,12:28:99:296,0,547
3 160148756 rs7631792 C T 618 PASS AB=0.531;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.095;DB;DP=49;Dels=0.0;FS=1.26;HRun=1;HaplotypeScore=1.7552;MQ=59.15;MQ0=0;MQRankSum=-0.15;QD=12.61;ReadPosRankSum=-0.471;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRIM59;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309784 GT:AD:DP:GQ:PL 0/1:26,23:49:99:648,0,810
3 160156951 rs1141023 C T 412.81 PASS AB=0.516;AC=1;AF=0.50;AN=2;BaseQRankSum=2.39;DB;DP=31;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=-0.894;QD=13.32;ReadPosRankSum=-1.85;SNPEFF_AMINO_ACID_CHANGE=E14;SNPEFF_CODON_CHANGE=gaG/gaA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_160156789_160156974;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRIM59;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000468542 GT:AD:DP:GQ:PL 0/1:16,15:31:99:443,0,492
3 160170373 rs144973441 C T 115.46 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.517;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8667;MQ=47.52;MQ0=0;MQRankSum=0.0;QD=9.62;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TRIM59;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468542 GT:AD:DP:GQ:PL 0/1:6,6:12:99:145,0,188
3 160223032 rs721022 C T 46.40 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9993;MQ=60.0;MQ0=0;MQRankSum=-0.727;QD=11.6;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KPNA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334256 GT:AD:DP:GQ:PL 0/1:1,3:4:27.95:76,0,28
3 160244073 rs6441322 A G 424.53 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KPNA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334256 GT:AD:DP:GQ:PL 1/1:0,12:12:36.12:458,36,0
3 160245948 rs1551190 A G 178.25 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=2.205;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.869;QD=14.85;ReadPosRankSum=-0.467;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KPNA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334256 GT:AD:DP:GQ:PL 0/1:6,6:12:99:208,0,182
3 160253729 rs2272489 G A 72.39 MQFilter40 AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=0.377;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9578;MQ=37.84;MQ0=0;MQRankSum=0.101;QD=5.17;ReadPosRankSum=0.66;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KPNA4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334256 GT:AD:DP:GQ:PL 0/1:8,6:14:60.62:102,0,61
3 160679744 rs7629001 A T 723.51 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.94;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PPM1L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295839 GT:AD:DP:GQ:PL 1/1:0,25:25:69.18:757,69,0
3 160939746 rs10530085 CTTTTTTTTTTT C 294.29 PASS AB=0.696;AC=1;AF=0.50;AN=2;BaseQRankSum=2.927;DB;DP=16;FS=0.0;HRun=30;HaplotypeScore=292.451;IndelType=D;MQ=34.44;MQ0=0;MQRankSum=-1.256;QD=18.39;ReadPosRankSum=2.927;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NMD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000351193 GT:AD:DP:GQ:PL 0/1:9,5:16:99:333,0,941
3 160955879 rs4350933 G T 630.08 HaplotypeScoreFilter13 AB=0.621;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.541;DB;DP=58;Dels=0.0;FS=3.72;HRun=0;HaplotypeScore=45.2223;MQ=55.9;MQ0=0;MQRankSum=-0.352;QD=10.86;ReadPosRankSum=-0.661;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NMD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460503 GT:AD:DP:GQ:PL 0/1:36,22:58:99:660,0,1023
3 160955882 rs11344126 CTT C 196.63 PASS AB=0.735;AC=1;AF=0.50;AN=2;BaseQRankSum=3.11;DB;DP=61;FS=0.0;HRun=15;HaplotypeScore=408.3339;IndelType=D;MQ=55.7;MQ0=0;MQRankSum=1.25;QD=3.22;ReadPosRankSum=0.668;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NMD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000460503 GT:AD:DP:GQ:PL 0/1:37,16:61:99:236,0,1100
3 160964271 rs73026976 G A 465.80 PASS AB=0.484;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.692;DB;DP=31;Dels=0.0;FS=3.153;HRun=1;HaplotypeScore=0.8321;MQ=60.0;MQ0=0;MQRankSum=1.206;QD=15.03;ReadPosRankSum=-0.771;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NMD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000351193 GT:AD:DP:GQ:PL 0/1:15,16:31:99:496,0,537
3 160967354 rs4290817 G A 299.76 PASS AB=0.476;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.113;DB;DP=21;Dels=0.0;FS=2.35;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.643;QD=14.27;ReadPosRankSum=0.189;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NMD3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000351193 GT:AD:DP:GQ:PL 0/1:10,11:21:99:330,0,306
3 161064193 rs339101 A T 251.09 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=1.599;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=-0.6;QD=20.92;ReadPosRankSum=0.825;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPTSSB;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000359175 GT:AD:DP:GQ:PL 0/1:4,8:12:99:281,0,118
3 161146849 rs146519224 GT G 32.49 PASS AB=0.684;AC=1;AF=0.50;AN=2;BaseQRankSum=0.729;DB;DP=12;FS=0.0;HRun=11;HaplotypeScore=54.972;IndelType=D;MQ=52.2;MQ0=0;MQRankSum=-1.881;QD=2.5;ReadPosRankSum=-0.361;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP11-3P17.3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000438478 GT:AD:DP:GQ:PL 0/1:7,6:12:71.52:72,0,133
3 161220843 . A C 272.47 PASS AB=0.52;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.406;DP=25;Dels=0.0;FS=1.66;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.217;QD=10.9;ReadPosRankSum=0.406;SNPEFF_AMINO_ACID_CHANGE=N183H;SNPEFF_CODON_CHANGE=Aac/Cac;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_161220814_161221730;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OTOL1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000327928 GT:AD:DP:GQ:PL 0/1:13,12:25:99:302,0,368
3 161221705 rs3921595 A C 995 PASS AB=0.506;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.459;DB;DP=89;Dels=0.0;FS=8.139;HRun=0;HaplotypeScore=0.8667;MQ=59.74;MQ0=0;MQRankSum=0.656;QD=11.18;ReadPosRankSum=-0.432;SNPEFF_AMINO_ACID_CHANGE=E470A;SNPEFF_CODON_CHANGE=gAg/gCg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_161220814_161221730;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OTOL1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000327928 GT:AD:DP:GQ:PL 0/1:45,44:89:99:1025,0,1393
3 161221848 rs2221514 T A 123.90 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.517;DB;DP=8;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.956;QD=15.49;ReadPosRankSum=-0.684;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=OTOL1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000327928 GT:AD:DP:GQ:PL 0/1:3,5:8:99:154,0,101
3 163234407 rs9290212 T C 322.18 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.8;SNPEFF_EFFECT=INTERGENIC;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_IMPACT=MODIFIER GT:AD:DP:GQ:PL 1/1:0,9:9:27.08:355,27,0
3 163720122 rs10804809 G T 71.19 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.537;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9967;MQ=60.0;MQ0=0;MQRankSum=-0.406;QD=11.87;ReadPosRankSum=0.406;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP11-208P4.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000483240 GT:AD:DP:GQ:PL 0/1:3,3:6:74.09:101,0,74
3 163889059 rs12488423 A T 240.29 PASS AB=0.609;AC=1;AF=0.50;AN=2;BaseQRankSum=2.471;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.134;QD=10.45;ReadPosRankSum=-0.401;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=MIR1263;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408324 GT:AD:DP:GQ:PL 0/1:14,9:23:99:270,0,470
3 163889075 rs12494921 C T 378.33 PASS AB=0.629;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.11;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.144;QD=10.81;ReadPosRankSum=-1.007;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=MIR1263;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408324 GT:AD:DP:GQ:PL 0/1:22,13:35:99:408,0,808
3 163889384 rs10936412 T C 150.16 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.843;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.583;QD=12.51;ReadPosRankSum=0.583;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=MIR1263;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408324 GT:AD:DP:GQ:PL 0/1:6,6:12:99:180,0,211
3 164059123 rs76722974 G A 212.36 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=2.067;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.45;MQ0=0;MQRankSum=-0.201;QD=14.16;ReadPosRankSum=-1.936;SNPEFF_EFFECT=UPSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=MIR720;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000408828 GT:AD:DP:GQ:PL 0/1:8,7:15:99:242,0,211
3 164714532 rs4855271 C T 457.86 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=28.62;SNPEFF_AMINO_ACID_CHANGE=M1523I;SNPEFF_CODON_CHANGE=atG/atA;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_164714526_164714560;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SI;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000264382 GT:AD:DP:GQ:PL 1/1:0,16:16:36.10:491,36,0
3 164733721 rs2290738 G A 5201.58 PASS AC=2;AF=1.00;AN=2;DB;DP=151;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.4972;MQ=59.69;MQ0=0;QD=34.45;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SI;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264382 GT:AD:DP:GQ:PL 1/1:0,151:151:99:5202,382,0
3 164748665 rs72216643 C CA 530.80 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.285;DB;DP=46;FS=2.576;HRun=13;HaplotypeScore=317.1439;IndelType=I;MQ=57.38;MQ0=0;MQRankSum=-0.095;QD=11.54;ReadPosRankSum=-1.613;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SI;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264382 GT:AD:DP:GQ:PL 1/1:23,21:46:55.42:573,55,0
3 164751319 rs7611384 T A 435.52 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.11;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SI;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264382 GT:AD:DP:GQ:PL 1/1:0,13:14:36.11:469,36,0
3 164758630 rs13099130 G A 759.94 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SI;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264382 GT:AD:DP:GQ:PL 1/1:0,20:20:60.20:793,60,0
3 164761113 rs13073000 A G 119.67 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=47.12;MQ0=0;QD=29.92;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SI;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264382 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:152,12,0
3 164764719 rs9838509 C A 807.53 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.07;MQ0=0;QD=32.3;SNPEFF_AMINO_ACID_CHANGE=A599;SNPEFF_CODON_CHANGE=gcG/gcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_164764629_164764800;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SI;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000264382 GT:AD:DP:GQ:PL 1/1:0,25:25:60.20:841,60,0
3 164766807 . T TAA 671.16 PASS AC=2;AF=1.00;AN=2;DP=12;FS=0.0;HRun=0;HaplotypeScore=161.2591;IndelType=I;MQ=49.5;MQ0=0;QD=55.93;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SI;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264382 GT:AD:DP:GQ:PL 1/1:1,11:12:36.12:713,36,0
3 164766808 rs66960807 TC T 497.79 PASS AC=2;AF=1.00;AN=2;DB;DP=12;FS=0.0;HRun=1;HaplotypeScore=171.3711;IndelType=D;MQ=49.5;MQ0=0;QD=41.48;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SI;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264382 GT:AD:DP:GQ:PL 1/1:1,11:12:36.11:540,36,0
3 164766816 rs9821196 C A 414.03 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=47.12;MQ0=0;QD=23.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SI;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264382 GT:AD:DP:GQ:PL 1/1:0,18:18:39.11:447,39,0
3 164766835 rs9841237 T C 748.04 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=50.65;MQ0=0;QD=31.17;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SI;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264382 GT:AD:DP:GQ:PL 1/1:0,24:24:60.19:781,60,0
3 164767148 rs9290253 T C 173.29 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.66;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SI;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264382 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:206,15,0
3 164772957 rs9290256 C T 2594.09 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.0;DB;DP=73;Dels=0.01;FS=0.0;HRun=0;HaplotypeScore=5.6992;MQ=59.38;MQ0=0;MQRankSum=-1.059;QD=35.06;ReadPosRankSum=-1.251;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SI;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264382 GT:AD:DP:GQ:PL 1/1:1,72:73:99:2627,160,0
3 164773057 rs9290257 G A 3673.55 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.482;DB;DP=111;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9332;MQ=59.58;MQ0=0;MQRankSum=-0.234;QD=33.1;ReadPosRankSum=-0.047;SNPEFF_AMINO_ACID_CHANGE=N479;SNPEFF_CODON_CHANGE=aaC/aaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_164772982_164773095;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SI;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000264382 GT:AD:DP:GQ:PL 1/1:1,110:111:99:3674,231,0
3 164776647 . T TACACACACAC 513.20 PASS AC=2;AF=1.00;AN=2;DP=7;FS=0.0;HRun=0;HaplotypeScore=50.6853;IndelType=I;MQ=36.42;MQ0=0;QD=73.31;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SI;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264382 GT:AD:DP:GQ:PL 1/1:1,5:7:18.06:555,18,0
3 164776913 rs60170840 C CAT 1533.69 PASS AC=2;AF=1.00;AN=2;DB;DP=27;FS=0.0;HRun=0;HaplotypeScore=67.0543;IndelType=I;MQ=59.61;MQ0=0;QD=56.8;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SI;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264382 GT:AD:DP:GQ:PL 1/1:0,26:27:81.28:1576,81,0
3 164777677 rs9290259 T G 8074.90 PASS AC=2;AF=1.00;AN=2;DB;DP=242;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=4.6836;MQ=59.73;MQ0=0;QD=33.37;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SI;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264382 GT:AD:DP:GQ:PL 1/1:0,241:242:99:8075,599,0
3 164781368 rs11718901 G A 1856.27 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.88;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SI;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264382 GT:AD:DP:GQ:PL 1/1:0,49:49:99:1889,138,0
3 164783165 rs9283633 T C 1046.29 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.7;SNPEFF_AMINO_ACID_CHANGE=T231A;SNPEFF_CODON_CHANGE=Acc/Gcc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_164783049_164783220;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SI;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000264382 GT:AD:DP:GQ:PL 1/1:0,32:32:81.25:1079,81,0
3 164785338 rs9865476 G A 1705.21 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.17;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SI;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000476593 GT:AD:DP:GQ:PL 1/1:0,53:53:99:1738,129,0
3 164786382 rs9758479 C A 406.16 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.85;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SI;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000476593 GT:AD:DP:GQ:PL 1/1:0,12:12:33.11:439,33,0
3 164786396 rs9754967 T C 431.74 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.98;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SI;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000476593 GT:AD:DP:GQ:PL 1/1:0,12:12:36.11:465,36,0
3 164786413 rs9756068 A G 381.08 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.22;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SI;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000476593 GT:AD:DP:GQ:PL 1/1:0,14:14:36.08:414,36,0
3 164786629 rs11313475 TA T 883.67 PASS AC=2;AF=1.00;AN=2;DB;DP=36;FS=0.0;HRun=8;HaplotypeScore=96.7041;IndelType=D;MQ=60.39;MQ0=0;QD=24.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SI;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264382 GT:AD:DP:GQ:PL 1/1:4,32:36:96.15:926,96,0
3 164792631 rs9865161 A G 123.98 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SI;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264382 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:156,12,0
3 164792686 rs6783643 A C 48.31 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=24.16;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SI;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264382 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:80,6,0
3 164793467 rs7430654 C A 173.25 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.65;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SI;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264382 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:206,15,0
3 164793492 rs7430656 C A 217.52 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.25;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SI;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264382 GT:AD:DP:GQ:PL 1/1:0,6:6:18.06:250,18,0
3 164793541 rs7432386 G T 638.65 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.63;MQ0=0;QD=37.57;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SI;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264382 GT:AD:DP:GQ:PL 1/1:0,17:17:51.17:672,51,0
3 165491280 rs1803274 C T 431.10 PASS AB=0.595;AC=1;AF=0.50;AN=2;BaseQRankSum=0.154;DB;DP=42;Dels=0.0;FS=2.945;HRun=2;HaplotypeScore=0.0;MQ=59.45;MQ0=0;MQRankSum=-0.026;QD=10.26;ReadPosRankSum=1.179;SNPEFF_AMINO_ACID_CHANGE=A29T;SNPEFF_CODON_CHANGE=Gca/Aca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_165490872_165491294;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=BCHE;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000540653 GT:AD:DP:GQ:PL 0/1:25,17:42:99:461,0,838
3 166958824 rs9683261 A G 31.17 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.38;DB;DP=6;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.72;QD=5.2;ReadPosRankSum=-1.38;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZBBX;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307529 GT:AD:DP:GQ:PL 0/1:4,2:6:61.16:61,0,152
3 167000256 rs12638625 G C 1973.71 PASS AB=0.488;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.793;DB;DP=130;Dels=0.0;FS=8.385;HRun=1;HaplotypeScore=5.5307;MQ=59.65;MQ0=0;MQRankSum=0.874;QD=15.18;ReadPosRankSum=-0.813;SNPEFF_AMINO_ACID_CHANGE=A607G;SNPEFF_CODON_CHANGE=gCa/gGa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_167000026_167000283;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZBBX;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000392764 GT:AD:DP:GQ:PL 0/1:63,66:130:99:2004,0,1796
3 167006568 rs7625639 G T 1079.68 PASS AB=0.353;AC=1;AF=0.50;AN=2;BaseQRankSum=0.286;DB;DP=51;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.9958;MQ=60.0;MQ0=0;MQRankSum=1.843;QD=21.17;ReadPosRankSum=1.941;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZBBX;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307529 GT:AD:DP:GQ:PL 0/1:18,33:51:99:1110,0,595
3 167006612 rs7625651 G T 1371.43 PASS AB=0.415;AC=1;AF=0.50;AN=2;BaseQRankSum=0.774;DB;DP=82;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.091;QD=16.72;ReadPosRankSum=0.226;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZBBX;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307529 GT:AD:DP:GQ:PL 0/1:34,48:82:99:1401,0,957
3 167040185 rs12632964 A C 144.61 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.219;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.876;QD=16.07;ReadPosRankSum=-1.881;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZBBX;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307529 GT:AD:DP:GQ:PL 0/1:4,5:9:99:175,0,141
3 167045701 rs10645171 C CA 75.82 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.925;DB;DP=29;FS=0.0;HRun=21;HaplotypeScore=253.7559;IndelType=I;MQ=42.34;MQ0=0;MQRankSum=-1.849;QD=2.61;ReadPosRankSum=-1.294;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZBBX;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000307529 GT:AD:DP:GQ:PL 1/1:17,5:29:3.26:115,3,0
3 167051726 rs10936530 A G 910.48 PASS AB=0.484;AC=1;AF=0.50;AN=2;BaseQRankSum=2.378;DB;DP=65;Dels=0.0;FS=0.968;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.255;QD=14.01;ReadPosRankSum=-0.416;SNPEFF_AMINO_ACID_CHANGE=F163;SNPEFF_CODON_CHANGE=ttT/ttC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_167051615_167051773;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZBBX;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000392764 GT:AD:DP:GQ:PL 0/1:31,33:65:99:940,0,930
3 167077691 rs4257551 T A 1368.19 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.39;MQ0=0;QD=36.01;SNPEFF_AMINO_ACID_CHANGE=V104;SNPEFF_CODON_CHANGE=gtA/gtT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_167077658_167077767;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZBBX;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000392764 GT:AD:DP:GQ:PL 1/1:0,38:38:99:1401,105,0
3 167159831 rs9864094 T C 156.79 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=0.66;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.935;QD=12.06;ReadPosRankSum=-0.66;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SERPINI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471111 GT:AD:DP:GQ:PL 0/1:7,6:13:99:187,0,251
3 167159834 rs9844202 C T 156.79 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.663;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.792;QD=11.2;ReadPosRankSum=-1.027;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SERPINI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000471111 GT:AD:DP:GQ:PL 0/1:7,7:14:99:187,0,249
3 167159980 rs9810473 A G 289.48 PASS AB=0.448;AC=1;AF=0.50;AN=2;BaseQRankSum=2.039;DB;DP=29;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.9983;MQ=59.36;MQ0=0;MQRankSum=0.417;QD=9.98;ReadPosRankSum=0.066;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SERPINI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264677 GT:AD:DP:GQ:PL 0/1:13,16:29:99:319,0,381
3 167164044 rs28544123 T A 43.77 PASS AB=0.727;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.931;DB;DP=11;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.66;MQ0=0;MQRankSum=-0.715;QD=3.98;ReadPosRankSum=-0.978;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SERPINI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264677 GT:AD:DP:GQ:PL 0/1:8,3:11:73.77:74,0,296
3 167164187 rs2272138 A G 1158.89 PASS AB=0.512;AC=1;AF=0.50;AN=2;BaseQRankSum=1.398;DB;DP=84;Dels=0.0;FS=9.814;HRun=2;HaplotypeScore=1.6642;MQ=58.89;MQ0=0;MQRankSum=0.424;QD=13.8;ReadPosRankSum=1.107;SNPEFF_AMINO_ACID_CHANGE=N378;SNPEFF_CODON_CHANGE=aaT/aaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_167164180_167164269;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SERPINI2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000264677 GT:AD:DP:GQ:PL 0/1:43,41:84:99:1189,0,1255
3 167164352 rs2272140 C T 330.52 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.51;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=58.99;MQ0=0;MQRankSum=0.197;QD=14.37;ReadPosRankSum=-0.46;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SERPINI2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264677 GT:AD:DP:GQ:PL 0/1:11,11:23:99:361,0,377
3 167167186 rs6770577 T A 469.19 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=2.488;DB;DP=32;Dels=0.0;FS=4.501;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.247;QD=14.66;ReadPosRankSum=-0.741;SNPEFF_AMINO_ACID_CHANGE=S323;SNPEFF_CODON_CHANGE=tcA/tcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_167167104_167167190;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SERPINI2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000264677 GT:AD:DP:GQ:PL 0/1:18,14:32:99:499,0,534
3 167413168 rs3804610 T C 50.05 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.02;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PDCD10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462830 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
3 167508062 rs13090836 T C 88.84 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=-0.72;QD=14.81;ReadPosRankSum=0.72;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SERPINI1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295777 GT:AD:DP:GQ:PL 0/1:2,4:6:63.19:119,0,63
3 167728808 rs9827289 A T 39.56 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=13.19;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GOLIM4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309027 GT:AD:DP:GQ:PL 0/1:1,2:3:31.62:70,0,32
3 167745703 rs9861339 A G 741.04 PASS AB=0.415;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.384;DB;DP=41;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.44;MQ0=0;MQRankSum=-0.146;QD=18.07;ReadPosRankSum=0.331;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GOLIM4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309027 GT:AD:DP:GQ:PL 0/1:17,24:41:99:771,0,580
3 167754573 rs6786410 A G 851.72 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.753;DB;DP=65;Dels=0.0;FS=6.454;HRun=0;HaplotypeScore=1.5774;MQ=59.29;MQ0=0;MQRankSum=0.755;QD=13.1;ReadPosRankSum=0.782;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GOLIM4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000479415 GT:AD:DP:GQ:PL 0/1:35,30:65:99:882,0,1056
3 167762678 rs67340367 C CA 51 PASS AB=0.773;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.307;DB;DP=17;FS=0.0;HRun=12;HaplotypeScore=46.9652;IndelType=I;MQ=59.96;MQ0=0;MQRankSum=-0.361;QD=3.0;ReadPosRankSum=0.361;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GOLIM4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000309027 GT:AD:DP:GQ:PL 0/1:12,5:17:67.16:90,0,67
3 168530046 rs72155091 C CT 31.62 QDFilter2 AB=0.745;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.031;DB;DP=38;FS=0.0;HRun=19;HaplotypeScore=367.0839;IndelType=I;MQ=51.5;MQ0=0;MQRankSum=0.536;QD=0.83;ReadPosRankSum=0.289;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=EGFEM1P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000506760 GT:AD:DP:GQ:PL 0/1:18,12:38:70.65:71,0,82
3 168530083 . A T 115 PASS AB=0.52;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.227;DP=50;Dels=0.0;FS=18.363;HRun=4;HaplotypeScore=10.0951;MQ=52.72;MQ0=0;MQRankSum=-2.409;QD=2.3;ReadPosRankSum=1.204;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=EGFEM1P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000506760 GT:AD:DP:GQ:PL 0/1:26,24:50:99:145,0,841
3 168538993 rs603638 A G 854.77 PASS AB=0.569;AC=1;AF=0.50;AN=2;BaseQRankSum=0.728;DB;DP=72;Dels=0.0;FS=5.197;HRun=2;HaplotypeScore=2.8603;MQ=59.68;MQ0=0;MQRankSum=-2.753;QD=11.87;ReadPosRankSum=0.146;SNPEFF_EFFECT=TRANSCRIPT;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=EGFEM1P;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000382864 GT:AD:DP:GQ:PL 0/1:41,31:72:99:885,0,1191
3 168818560 rs9857376 C T 51.64 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.82;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MECOM;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264674 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:83,6,0
3 168819788 rs9290358 A G 1293.91 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.97;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MECOM;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264674 GT:AD:DP:GQ:PL 1/1:0,37:37:96.32:1327,96,0
3 168825911 rs4955639 T C 132.33 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.47;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MECOM;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000492586 GT:AD:DP:GQ:PL 1/1:0,5:5:15.02:165,15,0
3 168830847 rs6444840 A G 45.13 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.57;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MECOM;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264674 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:76,6,0
3 168840571 rs3851380 A T 776.48 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.99;MQ0=0;QD=33.76;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MECOM;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264674 GT:AD:DP:GQ:PL 1/1:0,23:23:60.20:809,60,0
3 168840607 rs3851381 C T 493.78 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.33;MQ0=0;QD=35.27;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MECOM;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000264674 GT:AD:DP:GQ:PL 1/1:0,13:14:39.13:527,39,0
3 168864550 rs1420476 T A 83.42 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.81;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_3_168864511_168865522;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MECOM;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000464456 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:115,9,0
3 169098992 rs7622799 G A 1231.50 PASS AB=0.602;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.748;DB;DP=113;Dels=0.0;FS=4.75;HRun=0;HaplotypeScore=0.0;MQ=59.8;MQ0=0;MQRankSum=-0.912;QD=10.8;ReadPosRankSum=0.906;SNPEFF_AMINO_ACID_CHANGE=P120S;SNPEFF_CODON_CHANGE=Ccc/Tcc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_169098975_169099312;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MECOM;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000494292 GT:AD:DP:GQ:PL 0/1:68,45:113:99:1261,0,2116
3 169525506 . AT A 75.88 PASS AB=0.809;AC=1;AF=0.50;AN=2;BaseQRankSum=3.8;DP=38;FS=29.863;HRun=1;HaplotypeScore=335.0121;IndelType=D;MQ=43.93;MQ0=0;MQRankSum=-1.414;QD=2.0;ReadPosRankSum=-3.245;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LRRC34;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000316515 GT:AD:DP:GQ:PL 0/1:29,8:38:99:115,0,564
3 169654095 rs76313862 A G 194.19 PASS AB=0.467;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.366;DB;DP=15;Dels=0.0;FS=3.31;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.652;QD=12.95;ReadPosRankSum=-0.556;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SAMD7;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000335556 GT:AD:DP:GQ:PL 0/1:7,8:15:99:224,0,247
3 169710363 rs2160898 G T 811.31 PASS AB=0.481;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.418;DB;DP=54;Dels=0.0;FS=3.765;HRun=0;HaplotypeScore=0.9996;MQ=60.0;MQ0=0;MQRankSum=-1.219;QD=15.02;ReadPosRankSum=-0.56;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SEC62;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469515 GT:AD:DP:GQ:PL 0/1:26,28:54:99:841,0,843
3 169801658 rs6444895 G A 206.59 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.513;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.71;MQ0=0;MQRankSum=-0.732;QD=11.48;ReadPosRankSum=-1.513;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GPR160;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000355897 GT:AD:DP:GQ:PL 0/1:10,8:18:99:237,0,359
3 169854028 . T C 36.55 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.231;QD=7.31;ReadPosRankSum=-0.358;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PHC3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466189 GT:AD:DP:GQ:PL 0/1:2,3:5:66.54:67,0,70
3 169854671 rs34124911 T C 59.61 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.988;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.406;QD=9.94;ReadPosRankSum=0.406;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PHC3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466189 GT:AD:DP:GQ:PL 0/1:3,3:6:89.61:90,0,104
3 169890056 rs73181230 C T 44.02 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.01;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PHC3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000465896 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:75,6,0
3 169992975 rs138637605 CT C 34.24 QDFilter2 AB=0.778;AC=1;AF=0.50;AN=2;BaseQRankSum=1.171;DB;DP=63;FS=0.0;HRun=18;HaplotypeScore=447.3218;IndelType=D;MQ=53.44;MQ0=0;MQRankSum=-0.417;QD=0.54;ReadPosRankSum=1.052;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PRKCI;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000295797 GT:AD:DP:GQ:PL 0/1:42,11:63:73.27:73,0,275
3 170078232 rs3772173 C T 2109.04 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.04;MQ0=0;QD=33.48;SNPEFF_AMINO_ACID_CHANGE=A18V;SNPEFF_CODON_CHANGE=gCa/gTa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_170078156_170079217;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SKIL;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000426052 GT:AD:DP:GQ:PL 1/1:0,63:63:99:2142,162,0
3 170099218 rs67612408 ATTAT A 186.66 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=1.495;DB;DP=7;FS=0.0;HRun=0;HaplotypeScore=33.4635;IndelType=D;MQ=61.53;MQ0=0;MQRankSum=1.495;QD=26.67;ReadPosRankSum=0.922;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=SKIL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259119 GT:AD:DP:GQ:PL 0/1:2,5:7:83.82:226,0,84
3 170140792 rs1477211 A G 434.04 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.17;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLDN11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000064724 GT:AD:DP:GQ:PL 1/1:0,12:12:36.12:467,36,0
3 170140846 rs2111826 A G 829.89 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.2;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLDN11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000064724 GT:AD:DP:GQ:PL 1/1:0,25:25:72.21:863,72,0
3 170150076 rs6444929 C T 37.93 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=18.96;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLDN11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000064724 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:69,6,0
3 170197954 rs989997 T G 318.26 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=1.395;DB;DP=16;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.734;MQ=57.34;MQ0=0;MQRankSum=-0.546;QD=19.89;ReadPosRankSum=1.758;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLDN11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000451576 GT:AD:DP:GQ:PL 0/1:4,12:16:99:348,0,109
3 170198898 rs3732449 C T 205.34 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=1.447;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.405;QD=13.69;ReadPosRankSum=0.637;SNPEFF_AMINO_ACID_CHANGE=S391;SNPEFF_CODON_CHANGE=tcG/tcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_170198078_170198955;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SLC7A14;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000231706 GT:AD:DP:GQ:PL 0/1:8,7:15:99:235,0,197
3 170198967 rs1861939 G A 117.44 PASS AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=19.57;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CLDN11;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000451576 GT:AD:DP:GQ:PL 0/1:1,5:6:27.96:147,0,28
3 170584249 rs13462 C A 210.29 PASS AB=0.652;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.29;DB;DP=23;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.259;QD=9.14;ReadPosRankSum=0.097;SNPEFF_AMINO_ACID_CHANGE=V117F;SNPEFF_CODON_CHANGE=Gtt/Ttt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_170584053_170584313;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=RPL22L1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000466674 GT:AD:DP:GQ:PL 0/1:15,8:23:99:240,0,500
3 170805340 rs188994242 A C 660.92 PASS AB=0.444;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.443;DB;DP=45;Dels=0.0;FS=4.408;HRun=0;HaplotypeScore=2.0321;MQ=59.49;MQ0=0;MQRankSum=0.994;QD=14.69;ReadPosRankSum=0.445;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNIK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284483 GT:AD:DP:GQ:PL 0/1:20,25:45:99:691,0,692
3 170825905 rs6444960 C G 2016.52 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9734;MQ=60.0;MQ0=0;QD=33.61;SNPEFF_AMINO_ACID_CHANGE=A693;SNPEFF_CODON_CHANGE=gcG/gcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_170825854_170825951;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNIK;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000341852 GT:AD:DP:GQ:PL 1/1:0,59:60:99:2050,150,0
3 170825920 rs2291900 G A 699.23 PASS AB=0.518;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.689;DB;DP=56;Dels=0.0;FS=7.773;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.131;QD=12.49;ReadPosRankSum=0.361;SNPEFF_AMINO_ACID_CHANGE=L688;SNPEFF_CODON_CHANGE=ctC/ctT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_170825854_170825951;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNIK;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000341852 GT:AD:DP:GQ:PL 0/1:29,27:56:99:729,0,888
3 170857167 rs35492114 G GCA 703.16 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.346;DB;DP=46;FS=0.0;HRun=0;HaplotypeScore=332.7561;IndelType=I;MQ=48.38;MQ0=0;MQRankSum=-0.83;QD=15.29;ReadPosRankSum=0.138;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNIK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284483 GT:AD:DP:GQ:PL 1/1:34,6:46:35.53:745,36,0
3 170858406 rs2292006 T G 388.51 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.89;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNIK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284483 GT:AD:DP:GQ:PL 1/1:0,12:13:30.10:422,30,0
3 170885097 rs2292005 C T 882.49 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=4.459;DB;DP=60;Dels=0.0;FS=8.557;HRun=0;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=0.298;QD=14.71;ReadPosRankSum=-0.832;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNIK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284483 GT:AD:DP:GQ:PL 0/1:25,35:60:99:912,0,695
3 170893070 rs12637875 G A 517.54 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.118;DB;DP=45;Dels=0.0;FS=1.137;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.377;QD=11.5;ReadPosRankSum=-1.382;SNPEFF_AMINO_ACID_CHANGE=N222;SNPEFF_CODON_CHANGE=aaC/aaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_170893041_170893119;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNIK;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000468757 GT:AD:DP:GQ:PL 0/1:25,20:45:99:548,0,735
3 170912442 . C A 312.50 FSFilter60;HaplotypeScoreFilter13 AB=0.318;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.47;DP=108;Dels=0.0;FS=69.627;HRun=3;HaplotypeScore=15.7683;MQ=44.33;MQ0=0;MQRankSum=-4.546;QD=2.89;ReadPosRankSum=3.004;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNIK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284483 GT:AD:DP:GQ:PL 0/1:34,73:108:99:342,0,883
3 170912469 rs6773641 T A 556.12 PASS AB=0.493;AC=1;AF=0.50;AN=2;BaseQRankSum=2.609;DB;DP=73;Dels=0.0;FS=7.007;HRun=0;HaplotypeScore=1.6208;MQ=43.58;MQ0=0;MQRankSum=0.524;QD=7.62;ReadPosRankSum=0.634;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNIK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284483 GT:AD:DP:GQ:PL 0/1:36,37:73:99:586,0,560
3 170928797 rs6444972 T C 555.56 PASS AB=0.514;AC=1;AF=0.50;AN=2;BaseQRankSum=1.309;DB;DP=35;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=59.34;MQ0=0;MQRankSum=-0.792;QD=15.87;ReadPosRankSum=2.79;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNIK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284483 GT:AD:DP:GQ:PL 0/1:18,17:35:99:586,0,570
3 170928820 rs11400262 A AT 804.45 PASS AB=0.671;AC=1;AF=0.50;AN=2;BaseQRankSum=1.479;DB;DP=49;FS=0.0;HRun=4;HaplotypeScore=179.9019;IndelType=I;MQ=59.75;MQ0=0;MQRankSum=-0.032;QD=16.42;ReadPosRankSum=0.5;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNIK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284483 GT:AD:DP:GQ:PL 0/1:25,24:49:99:843,0,639
3 170929190 rs2292004 T C 209.22 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=1.122;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9734;MQ=58.71;MQ0=0;MQRankSum=0.927;QD=11.62;ReadPosRankSum=-0.439;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNIK;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000284483 GT:AD:DP:GQ:PL 0/1:10,8:18:99:239,0,298
3 171087469 rs3796295 G A 1661.11 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.94;SNPEFF_AMINO_ACID_CHANGE=P21;SNPEFF_CODON_CHANGE=ccC/ccT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_171087409_171087474;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNIK;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000284483 GT:AD:DP:GQ:PL 1/1:0,52:52:99:1694,129,0
3 171362977 rs360399 A G 46.65 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PLD1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000340989 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:78,6,0
3 171510744 rs73176191 A T 53.22 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.61;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_3_171509580_171511736;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=AC078953.1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000331659 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:84,6,0
3 171569621 rs67067117 C T 52.22 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.11;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TMEM212;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000334567 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:83,6,0
3 171844787 rs4894810 A T 1659.35 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.19;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FNDC3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336824 GT:AD:DP:GQ:PL 1/1:0,50:50:99:1692,126,0
3 171969077 rs7652177 C G 1414.19 PASS AB=0.545;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.555;DB;DP=110;Dels=0.0;FS=2.675;HRun=0;HaplotypeScore=1.4972;MQ=59.33;MQ0=0;MQRankSum=0.861;QD=12.86;ReadPosRankSum=0.867;SNPEFF_AMINO_ACID_CHANGE=T152S;SNPEFF_CODON_CHANGE=aCc/aGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_171969050_171969246;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FNDC3B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000443501 GT:AD:DP:GQ:PL 0/1:60,50:110:99:1444,0,1932
3 171969554 rs6786644 G T 91.49 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.5;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FNDC3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000443501 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:124,9,0
3 172003831 rs71701220 CT C 172.05 PASS AB=0.657;AC=1;AF=0.50;AN=2;BaseQRankSum=0.685;DB;DP=23;FS=2.884;HRun=13;HaplotypeScore=77.792;IndelType=D;MQ=61.4;MQ0=0;MQRankSum=-0.791;QD=7.48;ReadPosRankSum=0.369;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FNDC3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336824 GT:AD:DP:GQ:PL 0/1:10,12:23:80.39:211,0,80
3 172016725 rs16845307 A G 134.26 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.198;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.922;QD=16.78;ReadPosRankSum=0.922;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FNDC3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336824 GT:AD:DP:GQ:PL 0/1:2,6:8:62.23:164,0,62
3 172046861 rs2270568 T C 3214.74 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.646;DB;DP=101;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9789;MQ=60.0;MQ0=0;MQRankSum=-0.54;QD=31.83;ReadPosRankSum=-0.992;SNPEFF_AMINO_ACID_CHANGE=G458;SNPEFF_CODON_CHANGE=ggT/ggC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_172046742_172046866;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FNDC3B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000336824 GT:AD:DP:GQ:PL 1/1:2,99:101:99:3248,199,0
3 172046933 rs6799133 A G 2647.21 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.641;DB;DP=76;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.094;QD=34.83;ReadPosRankSum=1.368;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FNDC3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336824 GT:AD:DP:GQ:PL 1/1:1,75:76:99:2680,166,0
3 172052897 rs71300460 G GT 141.16 QDFilter2 AB=0.935;AC=1;AF=0.50;AN=2;BaseQRankSum=1.031;DB;DP=86;FS=3.211;HRun=16;HaplotypeScore=572.0953;IndelType=I;MQ=56.42;MQ0=0;MQRankSum=-1.031;QD=1.64;ReadPosRankSum=-2.186;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FNDC3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336824 GT:AD:DP:GQ:PL 0/1:74,6:86:99:180,0,251
3 172059121 rs570549 G A 761.71 PASS AB=0.529;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.444;DB;DP=51;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=59.09;MQ0=0;MQRankSum=1.953;QD=14.94;ReadPosRankSum=0.047;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FNDC3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469491 GT:AD:DP:GQ:PL 0/1:27,24:51:99:792,0,941
3 172060700 rs606797 C T 95.30 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.788;DB;DP=12;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.244;QD=7.94;ReadPosRankSum=-2.367;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FNDC3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000469491 GT:AD:DP:GQ:PL 0/1:7,5:12:99:125,0,262
3 172064091 rs583550 G A 454.47 PASS AB=0.59;AC=1;AF=0.50;AN=2;BaseQRankSum=4.44;DB;DP=39;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7552;MQ=60.0;MQ0=0;MQRankSum=1.442;QD=11.65;ReadPosRankSum=0.814;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FNDC3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336824 GT:AD:DP:GQ:PL 0/1:23,16:39:99:484,0,670
3 172064828 rs502170 A C 103.88 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.495;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.922;QD=14.84;ReadPosRankSum=0.198;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FNDC3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336824 GT:AD:DP:GQ:PL 0/1:2,5:7:66.82:134,0,67
3 172095880 rs6798409 C A 64.30 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.727;DB;DP=4;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.727;QD=16.07;ReadPosRankSum=0.727;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FNDC3B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000336824 GT:AD:DP:GQ:PL 0/1:1,3:4:30.20:94,0,30
3 172162829 rs482204 G A 474.32 PASS AB=0.541;AC=1;AF=0.50;AN=2;BaseQRankSum=2.301;DB;DP=37;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.74;MQ0=0;MQRankSum=0.686;QD=12.82;ReadPosRankSum=-2.027;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GHSR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000241256 GT:AD:DP:GQ:PL 0/1:20,17:37:99:504,0,676
3 172162837 rs477251 T C 1343.46 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=58.74;MQ0=0;QD=36.31;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GHSR;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000241256 GT:AD:DP:GQ:PL 1/1:0,37:37:99:1376,102,0
3 172165727 rs572169 C T 298.78 PASS AB=0.409;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.817;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9789;MQ=59.15;MQ0=0;MQRankSum=0.746;QD=13.58;ReadPosRankSum=-1.03;SNPEFF_AMINO_ACID_CHANGE=R159;SNPEFF_CODON_CHANGE=cgG/cgA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_172165408_172166246;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GHSR;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000241256 GT:AD:DP:GQ:PL 0/1:9,13:22:99:329,0,274
3 172166033 rs495225 G A 379.88 PASS AB=0.368;AC=1;AF=0.50;AN=2;BaseQRankSum=0.042;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.99;MQ0=0;MQRankSum=1.479;QD=16.52;ReadPosRankSum=1.564;SNPEFF_AMINO_ACID_CHANGE=G57;SNPEFF_CODON_CHANGE=ggC/ggT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_172165408_172166246;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GHSR;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000241256 GT:AD:DP:GQ:PL 0/1:7,12:23:99:410,0,122
3 172224303 rs1131532 A G 1365.81 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.6;MQ0=0;QD=29.06;SNPEFF_AMINO_ACID_CHANGE=F275;SNPEFF_CODON_CHANGE=ttT/ttC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_172223298_172224709;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNFSF10;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000241261 GT:AD:DP:GQ:PL 1/1:0,47:47:99:1399,117,0
3 172224769 rs111284464 GC G 116.88 PASS AC=2;AF=1.00;AN=2;DB;DP=5;FS=0.0;HRun=1;HaplotypeScore=32.1981;IndelType=D;MQ=60.0;MQ0=0;QD=23.38;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNFSF10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472804 GT:AD:DP:GQ:PL 1/1:0,5:5:15.04:159,15,0
3 172227199 rs3815496 C T 247.60 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.62;MQ0=0;QD=35.37;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNFSF10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000472804 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:281,21,0
3 172232905 rs142770957 G A 363.91 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.634;DB;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=54.81;MQ0=0;MQRankSum=0.362;QD=16.54;ReadPosRankSum=0.543;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TNFSF10;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000466777 GT:AD:DP:GQ:PL 0/1:7,14:22:99:394,0,225
3 172365521 rs10804847 C A 686.50 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.127;DB;DP=39;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=1.225;QD=17.6;ReadPosRankSum=0.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NCEH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273512 GT:AD:DP:GQ:PL 0/1:18,21:39:99:716,0,598
3 172365619 rs9865941 G A 2029.66 PASS AB=0.521;AC=1;AF=0.50;AN=2;BaseQRankSum=6.165;DB;DP=140;Dels=0.0;FS=0.677;HRun=0;HaplotypeScore=1.4538;MQ=60.0;MQ0=0;MQRankSum=1.135;QD=14.5;ReadPosRankSum=1.723;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NCEH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273512 GT:AD:DP:GQ:PL 0/1:73,67:140:99:2060,0,2066
3 172428508 rs7629698 C T 32.42 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=16.21;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NCEH1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273512 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:64,6,0
3 172428782 rs2276805 T C 385.04 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.69;DB;DP=36;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=1.7333;MQ=59.48;MQ0=0;MQRankSum=1.576;QD=10.7;ReadPosRankSum=0.684;SNPEFF_AMINO_ACID_CHANGE=Q30R;SNPEFF_CODON_CHANGE=cAg/cGg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_172428637_172429008;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NCEH1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000273512 GT:AD:DP:GQ:PL 0/1:20,16:36:99:415,0,685
3 172473484 rs1403088 A G 157.74 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=26.29;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ECT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000366254 GT:AD:DP:GQ:PL 1/1:0,6:6:15.04:190,15,0
3 172480173 rs10654513 A ATT 2688.74 PASS AC=2;AF=1.00;AN=2;DB;DP=47;FS=0.0;HRun=0;HaplotypeScore=314.543;IndelType=I;MQ=56.41;MQ0=0;QD=57.21;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ECT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000415665 GT:AD:DP:GQ:PL 1/1:2,44:47:99:2731,141,0
3 172480174 rs68188776 AC A 1820.40 PASS AC=2;AF=1.00;AN=2;DB;DP=46;FS=0.0;HRun=1;HaplotypeScore=370.137;IndelType=D;MQ=56.08;MQ0=0;QD=39.57;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ECT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000415665 GT:AD:DP:GQ:PL 1/1:5,41:46:99:1862,138,0
3 172501443 rs7649589 A C 258.21 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.89;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ECT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000232458 GT:AD:DP:GQ:PL 1/1:0,7:7:21.07:291,21,0
3 172520818 rs7644191 G C 1450.37 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.8154;MQ=60.0;MQ0=0;QD=34.53;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ECT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000232458 GT:AD:DP:GQ:PL 1/1:0,42:42:99:1483,108,0
3 172520948 rs34170968 G A 43.33 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.66;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ECT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000232458 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:75,6,0
3 172534428 rs10936738 C T 1063.37 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.17;MQ0=0;QD=37.98;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ECT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000232458 GT:AD:DP:GQ:PL 1/1:0,28:28:84.24:1096,84,0
3 172537850 rs35236458 T G 504.39 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=36.03;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ECT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427830 GT:AD:DP:GQ:PL 1/1:0,14:14:39.13:537,39,0
3 172538065 rs76864072 C T 524.16 PASS AB=0.455;AC=1;AF=0.50;AN=2;BaseQRankSum=0.777;DB;DP=33;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9789;MQ=60.0;MQ0=0;MQRankSum=-0.669;QD=15.88;ReadPosRankSum=-0.958;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ECT2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000427830 GT:AD:DP:GQ:PL 0/1:15,18:33:99:554,0,500
3 172546587 rs10804850 C G 1336.59 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=1.8665;MQ=58.97;MQ0=0;QD=29.7;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_pseudogene;SNPEFF_GENE_NAME=RP11-816B4.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000428618 GT:AD:DP:GQ:PL 1/1:0,45:45:99:1370,108,0
3 172634025 . T TTG 2435.61 PASS AC=2;AF=1.00;AN=2;DP=63;FS=0.0;HRun=0;HaplotypeScore=227.6371;IndelType=I;MQ=59.17;MQ0=2;QD=37.47;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPATA16;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000351008 GT:AD:DP:GQ:PL 1/1:12,53:63:99:2478,188,0
3 172634026 . T G 30.26 HaplotypeScoreFilter13;QDFilter2 AB=0.969;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.059;DP=65;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=59.8349;MQ=59.17;MQ0=2;MQRankSum=2.254;QD=0.47;ReadPosRankSum=-2.411;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=SPATA16;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000351008 GT:AD:DP:GQ:PL 0/1:63,2:65:60.25:60,0,132
3 173322248 rs3844523 T C 1967.30 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9989;MQ=58.07;MQ0=0;QD=35.13;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_3_173322069_173322881;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NLGN1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000361589 GT:AD:DP:GQ:PL 1/1:0,56:56:99:2000,150,0
3 173507395 rs4499633 T C 51.22 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.61;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NLGN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361589 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
3 173518320 rs1488552 A C 82.87 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.62;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NLGN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361589 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:115,9,0
3 173525731 rs1488548 G T 386.96 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.7;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NLGN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361589 GT:AD:DP:GQ:PL 1/1:0,10:10:30.10:420,30,0
3 173525768 rs1488547 A G 52.75 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=17.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NLGN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361589 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:84,6,0
3 173992971 rs691120 A G 81.18 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9995;MQ=60.0;MQ0=0;MQRankSum=0.358;QD=16.24;ReadPosRankSum=0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=NLGN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000361589 GT:AD:DP:GQ:PL 0/1:2,3:5:64.51:111,0,65
3 174815291 rs9875611 G A 77.37 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.358;QD=15.47;ReadPosRankSum=0.358;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NAALADL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000434257 GT:AD:DP:GQ:PL 0/1:2,3:5:67.36:107,0,67
3 174951548 rs62285901 C T 50.63 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.32;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NAALADL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000316366 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
3 174951631 rs5028203 A G 664.31 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.96;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NAALADL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000316366 GT:AD:DP:GQ:PL 1/1:0,19:19:51.17:697,51,0
3 174951756 rs4371530 T C 3119.61 PASS AC=2;AF=1.00;AN=2;DB;DP=84;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.14;SNPEFF_AMINO_ACID_CHANGE=M1T;SNPEFF_CODON_CHANGE=aTg/aCg;SNPEFF_EFFECT=START_LOST;SNPEFF_EXON_ID=exon_3_174951721_174951994;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NAALADL2;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000316366 GT:AD:DP:GQ:PL 1/1:0,84:84:99:3153,232,0
3 175041825 . AAAAAAAAG A 1439.48 PASS AB=0.654;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.239;DP=51;FS=0.0;HRun=0;HaplotypeScore=720.0777;IndelType=D;MQ=41.93;MQ0=0;MQRankSum=1.188;QD=28.23;ReadPosRankSum=-1.085;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NAALADL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000316366 GT:AD:DP:GQ:PL 0/1:24,27:51:99:1479,0,318
3 175041832 . AG A 1166.60 PASS AC=2;AF=1.00;AN=2;DP=51;FS=0.0;HRun=1;HaplotypeScore=649.5428;IndelType=D;MQ=41.93;MQ0=0;QD=22.87;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NAALADL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000316366 GT:AD:DP:GQ:PL 1/1:35,16:51:99:1209,149,0
3 175041838 . AG A 161.55 PASS AB=0.822;AC=1;AF=0.50;AN=2;BaseQRankSum=5.133;DP=60;FS=0.0;HRun=1;HaplotypeScore=756.3683;IndelType=D;MQ=45.1;MQ0=0;MQRankSum=-4.442;QD=2.69;ReadPosRankSum=2.369;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NAALADL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000316366 GT:AD:DP:GQ:PL 0/1:47,10:60:99:201,0,441
3 175165079 rs6802937 C T 3838.53 PASS AC=2;AF=1.00;AN=2;DB;DP=112;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.4105;MQ=60.0;MQ0=0;QD=34.27;SNPEFF_AMINO_ACID_CHANGE=P385S;SNPEFF_CODON_CHANGE=Ccc/Tcc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_175165017_175165160;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NAALADL2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000454872 GT:AD:DP:GQ:PL 1/1:0,112:112:99:3839,292,0
3 175165201 rs2161041 T G 621.87 PASS AB=0.52;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.194;DB;DP=50;Dels=0.0;FS=3.763;HRun=0;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;MQRankSum=2.126;QD=12.44;ReadPosRankSum=0.01;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NAALADL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000316366 GT:AD:DP:GQ:PL 0/1:26,24:50:99:652,0,848
3 175185060 rs9839245 T G 339.30 PASS AB=0.45;AC=1;AF=0.50;AN=2;BaseQRankSum=1.368;DB;DP=20;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.684;QD=16.96;ReadPosRankSum=-1.899;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NAALADL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000454872 GT:AD:DP:GQ:PL 0/1:9,11:20:99:369,0,308
3 175189406 rs67071359 CT C 557.02 PASS AB=0.627;AC=1;AF=0.50;AN=2;BaseQRankSum=4.6;DB;DP=47;FS=0.0;HRun=10;HaplotypeScore=331.6803;IndelType=D;MQ=60.2;MQ0=0;MQRankSum=0.93;QD=11.85;ReadPosRankSum=-0.752;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NAALADL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000454872 GT:AD:DP:GQ:PL 0/1:19,28:47:99:596,0,369
3 175189417 rs79264590 G A 41.37 QDFilter2 AB=0.418;AC=1;AF=0.50;AN=2;BaseQRankSum=3.573;DB;DP=55;Dels=0.0;FS=2.089;HRun=0;HaplotypeScore=0.9665;MQ=60.17;MQ0=0;MQRankSum=0.7;QD=0.75;ReadPosRankSum=0.373;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NAALADL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000454872 GT:AD:DP:GQ:PL 0/1:23,32:55:71.36:71,0,578
3 175189447 rs79452486 G A 1168.44 PASS AB=0.447;AC=1;AF=0.50;AN=2;BaseQRankSum=3.399;DB;DP=76;Dels=0.0;FS=2.941;HRun=5;HaplotypeScore=1.5731;MQ=59.68;MQ0=0;MQRankSum=-0.507;QD=15.37;ReadPosRankSum=1.233;SNPEFF_AMINO_ACID_CHANGE=Q518;SNPEFF_CODON_CHANGE=caG/caA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_175189427_175189546;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NAALADL2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000454872 GT:AD:DP:GQ:PL 0/1:34,42:76:99:1198,0,1002
3 175189718 rs9879221 A G 178.03 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=0.868;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.174;QD=11.87;ReadPosRankSum=-0.058;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NAALADL2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000454872 GT:AD:DP:GQ:PL 0/1:8,7:15:99:208,0,283
3 175345143 rs9866564 C G 157.54 PASS AB=0.609;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.677;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.99;MQ0=0;MQRankSum=-0.22;QD=6.85;ReadPosRankSum=-1.165;SNPEFF_AMINO_ACID_CHANGE=P622R;SNPEFF_CODON_CHANGE=cCc/cGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_175345079_175345174;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NAALADL2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000454872 GT:AD:DP:GQ:PL 0/1:14,9:23:99:188,0,453
3 175473047 rs9826737 T C 4465.07 PASS AC=2;AF=1.00;AN=2;DB;DP=127;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=3.4216;MQ=59.71;MQ0=0;QD=35.16;SNPEFF_AMINO_ACID_CHANGE=L677S;SNPEFF_CODON_CHANGE=tTa/tCa;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_175473008_175473206;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=NAALADL2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000454872 GT:AD:DP:GQ:PL 1/1:0,127:127:99:4465,334,0
3 176744031 rs112275760 GA G 485.20 PASS AB=0.678;AC=1;AF=0.50;AN=2;BaseQRankSum=4.992;DB;DP=59;FS=0.0;HRun=11;HaplotypeScore=162.4873;IndelType=D;MQ=57.96;MQ0=0;MQRankSum=0.008;QD=8.22;ReadPosRankSum=-0.85;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TBL1XR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000430069 GT:AD:DP:GQ:PL 0/1:31,28:59:99:524,0,698
3 176752202 rs1905503 A T 30.82 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=1.495;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.198;QD=4.4;ReadPosRankSum=1.495;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TBL1XR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000430069 GT:AD:DP:GQ:PL 0/1:5,2:7:60.81:61,0,178
3 176765253 rs1201300 G A 2843.36 PASS AC=2;AF=1.00;AN=2;DB;DP=87;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.734;MQ=59.47;MQ0=0;QD=32.68;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TBL1XR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000352800 GT:AD:DP:GQ:PL 1/1:0,87:87:99:2876,223,0
3 176765269 rs3749234 T C 1621.84 PASS AB=0.417;AC=1;AF=0.50;AN=2;BaseQRankSum=1.519;DB;DP=103;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9789;MQ=59.55;MQ0=0;MQRankSum=1.492;QD=15.75;ReadPosRankSum=-0.141;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TBL1XR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000352800 GT:AD:DP:GQ:PL 0/1:43,60:103:99:1652,0,1240
3 176767667 rs35503291 GTTAC G 291.46 PASS AB=0.696;AC=1;AF=0.50;AN=2;BaseQRankSum=3.281;DB;DP=16;FS=0.0;HRun=0;HaplotypeScore=132.1805;IndelType=D;MQ=48.92;MQ0=0;MQRankSum=-3.387;QD=18.22;ReadPosRankSum=-0.741;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TBL1XR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000352800 GT:AD:DP:GQ:PL 0/1:9,7:16:99:330,0,686
3 176769608 rs1881979 G A 441.15 PASS AB=0.595;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.567;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9734;MQ=59.38;MQ0=0;MQRankSum=1.797;QD=11.92;ReadPosRankSum=0.802;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TBL1XR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000413084 GT:AD:DP:GQ:PL 0/1:22,15:37:99:471,0,730
3 178538249 rs6780023 G A 1028.74 PASS AB=0.549;AC=1;AF=0.50;AN=2;BaseQRankSum=1.28;DB;DP=82;Dels=0.0;FS=7.923;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.281;QD=12.55;ReadPosRankSum=-1.455;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNMB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358316 GT:AD:DP:GQ:PL 0/1:45,37:82:99:1059,0,1412
3 178538304 rs6779867 C A 1275.45 PASS AB=0.559;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.836;DB;DP=102;Dels=0.0;FS=3.733;HRun=0;HaplotypeScore=0.9867;MQ=60.0;MQ0=0;MQRankSum=-0.694;QD=12.5;ReadPosRankSum=-0.398;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNMB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358316 GT:AD:DP:GQ:PL 0/1:57,45:102:99:1305,0,1556
3 178538343 rs6804163 A G 999.35 PASS AB=0.574;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.057;DB;DP=94;Dels=0.0;FS=4.202;HRun=2;HaplotypeScore=0.9578;MQ=60.0;MQ0=0;MQRankSum=-1.457;QD=10.63;ReadPosRankSum=0.287;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNMB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000358316 GT:AD:DP:GQ:PL 0/1:54,40:94:99:1029,0,1664
3 178545774 rs9883312 C A 41.49 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=10.37;ReadPosRankSum=0.0;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNMB2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470361 GT:AD:DP:GQ:PL 0/1:2,2:4:69.92:71,0,70
3 178546026 rs9831934 T C 1075.27 PASS AB=0.487;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.514;DB;DP=78;Dels=0.0;FS=4.403;HRun=0;HaplotypeScore=1.4679;MQ=59.76;MQ0=0;MQRankSum=0.685;QD=13.79;ReadPosRankSum=-0.245;SNPEFF_AMINO_ACID_CHANGE=N77;SNPEFF_CODON_CHANGE=aaT/aaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_178545966_178546161;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNMB2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000457763 GT:AD:DP:GQ:PL 0/1:38,40:78:99:1105,0,1263
3 178560581 rs6443583 A C 630.57 PASS AB=0.425;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.328;DB;DP=40;Dels=0.0;FS=7.009;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.204;QD=15.76;ReadPosRankSum=0.383;SNPEFF_AMINO_ACID_CHANGE=T169;SNPEFF_CODON_CHANGE=acA/acC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_178560441_178560725;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KCNMB2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000457763 GT:AD:DP:GQ:PL 0/1:17,23:40:99:661,0,553
3 178742690 rs4607155 T C 481.74 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.41;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZMAT3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000414084 GT:AD:DP:GQ:PL 1/1:0,14:14:39.12:515,39,0
3 178748480 rs4955810 C T 461.68 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.47;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZMAT3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000311417 GT:AD:DP:GQ:PL 1/1:0,12:12:36.12:495,36,0
3 178785549 rs6772028 G A 1193.24 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.39;MQ0=0;QD=31.4;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_3_178785271_178785597;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZMAT3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000311417 GT:AD:DP:GQ:PL 1/1:0,38:38:99:1226,99,0
3 178917005 rs3729674 A G 359.88 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=3.226;DB;DP=28;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.348;QD=12.85;ReadPosRankSum=1.277;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIK3CA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468036 GT:AD:DP:GQ:PL 0/1:16,12:28:99:390,0,574
3 178917762 rs11417815 C CT 143.13 PASS AB=0.727;AC=1;AF=0.50;AN=2;BaseQRankSum=1.164;DB;DP=24;FS=0.0;HRun=13;HaplotypeScore=249.1055;IndelType=I;MQ=55.69;MQ0=0;MQRankSum=0.429;QD=5.96;ReadPosRankSum=-1.164;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIK3CA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468036 GT:AD:DP:GQ:PL 0/1:15,9:24:61.05:182,0,61
3 178921158 rs7623154 G A 122.25 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.731;QD=24.45;ReadPosRankSum=-0.731;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIK3CA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468036 GT:AD:DP:GQ:PL 0/1:1,4:5:22.75:152,0,23
3 178921253 rs17550640 G GTAAA 494.25 PASS AB=0.75;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.421;DB;DP=15;FS=0.0;HRun=0;HaplotypeScore=62.6151;IndelType=I;MQ=56.85;MQ0=0;MQRankSum=-1.154;QD=32.95;ReadPosRankSum=-0.421;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIK3CA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468036 GT:AD:DP:GQ:PL 0/1:10,5:15:99:533,0,362
3 178921639 rs2699895 C A 840.57 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.07;MQ0=0;QD=33.62;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIK3CA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000468036 GT:AD:DP:GQ:PL 1/1:0,25:25:66.20:874,66,0
3 178922222 rs3729676 G T 581.78 PASS AB=0.308;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.472;DB;DP=26;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.306;QD=22.38;ReadPosRankSum=1.861;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIK3CA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263967 GT:AD:DP:GQ:PL 0/1:8,18:26:99:612,0,245
3 178922274 rs2699896 C A 2018.66 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.56;MQ0=0;QD=38.82;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIK3CA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263967 GT:AD:DP:GQ:PL 1/1:0,52:52:99:2052,150,0
3 178922430 rs3729679 A G 1511.43 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.42;MQ0=0;QD=37.79;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIK3CA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263967 GT:AD:DP:GQ:PL 1/1:0,40:40:99:1544,114,0
3 178927645 rs3729681 C T 31.93 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.026;QD=7.98;ReadPosRankSum=1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIK3CA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263967 GT:AD:DP:GQ:PL 0/1:2,2:4:61.92:62,0,69
3 178927848 rs67871207 AT A 53.12 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.956;DB;DP=10;FS=0.0;HRun=12;HaplotypeScore=27.7338;IndelType=D;MQ=60.0;MQ0=0;MQRankSum=-1.221;QD=5.31;ReadPosRankSum=0.322;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIK3CA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263967 GT:AD:DP:GQ:PL 0/1:5,5:10:67.44:92,0,67
3 178937346 rs41273619 T C 103.84 MQFilter40 AB=0.607;AC=1;AF=0.50;AN=2;BaseQRankSum=2.601;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9734;MQ=24.93;MQ0=8;MQRankSum=-0.867;QD=3.58;ReadPosRankSum=1.115;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIK3CA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263967 GT:AD:DP:GQ:PL 0/1:17,11:29:99:134,0,294
3 178938023 rs112896638 A C 31.02 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=43.89;MQ0=0;MQRankSum=1.026;QD=7.76;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIK3CA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263967 GT:AD:DP:GQ:PL 0/1:2,2:4:61.01:61,0,68
3 178938747 rs6443625 A T 126.69 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.299;DB;DP=14;Dels=0.0;FS=3.358;HRun=5;HaplotypeScore=0.0;MQ=58.66;MQ0=0;MQRankSum=-0.201;QD=9.05;ReadPosRankSum=-0.545;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIK3CA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263967 GT:AD:DP:GQ:PL 0/1:7,7:14:99:157,0,250
3 178939018 rs3729689 T C 168.74 PASS AB=0.143;AC=1;AF=0.50;AN=2;BaseQRankSum=0.742;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=45.97;MQ0=0;MQRankSum=-0.742;QD=24.11;ReadPosRankSum=0.742;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIK3CA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263967 GT:AD:DP:GQ:PL 0/1:1,6:7:19.59:199,0,20
3 178942431 rs2699889 C G 963.24 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.68;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIK3CA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263967 GT:AD:DP:GQ:PL 1/1:0,27:27:72.24:996,72,0
3 178947325 rs3729692 A C 104.27 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.731;QD=20.85;ReadPosRankSum=-0.731;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIK3CA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462255 GT:AD:DP:GQ:PL 0/1:1,4:5:25.60:134,0,26
3 178947684 rs41265402 G C 536 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.019;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=0.923;QD=16.75;ReadPosRankSum=-0.848;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIK3CA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462255 GT:AD:DP:GQ:PL 0/1:16,16:32:99:566,0,560
3 178957783 rs3976507 C T 340.09 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=0.283;DB;DP=27;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.8667;MQ=58.61;MQ0=0;MQRankSum=-0.643;QD=12.6;ReadPosRankSum=-0.591;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KCNMB3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000314235 GT:AD:DP:GQ:PL 0/1:15,12:27:99:370,0,440
3 178957969 rs6782557 G A 95.77 PASS AB=0.2;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.731;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.731;QD=19.15;ReadPosRankSum=-0.731;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KCNMB3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000314235 GT:AD:DP:GQ:PL 0/1:1,4:5:27.63:126,0,28
3 178960607 rs1059691 A G 467.46 PASS AB=0.441;AC=1;AF=0.50;AN=2;BaseQRankSum=0.494;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=50.37;MQ0=3;MQRankSum=-0.415;QD=13.75;ReadPosRankSum=0.178;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIK3CA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263967 GT:AD:DP:GQ:PL 0/1:15,19:34:99:497,0,486
3 178961038 rs139527128 T C 244.32 MQFilter40;QDFilter2 AB=0.761;AC=1;AF=0.50;AN=2;BaseQRankSum=1.799;DB;DP=155;Dels=0.0;FS=3.188;HRun=0;HaplotypeScore=0.0;MQ=10.51;MQ0=123;MQRankSum=-0.652;QD=1.58;ReadPosRankSum=-1.364;SNPEFF_AMINO_ACID_CHANGE=N143S;SNPEFF_CODON_CHANGE=aAt/aGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_178960566_178961072;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KCNMB3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000485523 GT:AD:DP:GQ:PL 0/1:118,37:155:99:274,0,267
3 178962517 rs4080957 T C 80.21 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.953;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9958;MQ=51.33;MQ0=0;MQRankSum=-1.694;QD=5.01;ReadPosRankSum=1.27;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PIK3CA;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263967 GT:AD:DP:GQ:PL 0/1:9,7:16:99:110,0,337
3 178968634 rs7645550 C T 1460.89 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.97;MQ0=0;QD=32.46;SNPEFF_AMINO_ACID_CHANGE=A31T;SNPEFF_CODON_CHANGE=Gct/Act;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_178968531_178968722;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KCNMB3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000485523 GT:AD:DP:GQ:PL 1/1:0,45:45:99:1494,114,0
3 178969107 rs1183319 G A 82.75 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.58;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KCNMB3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000349697 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:115,9,0
3 178976591 rs56400023 T A 189.13 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.568;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.11;MQ0=0;MQRankSum=1.447;QD=18.91;ReadPosRankSum=1.447;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KCNMB3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000349697 GT:AD:DP:GQ:PL 0/1:4,6:10:99:219,0,136
3 178976777 rs11720871 C T 786.74 PASS AB=0.436;AC=1;AF=0.50;AN=2;BaseQRankSum=1.071;DB;DP=55;Dels=0.0;FS=2.407;HRun=1;HaplotypeScore=0.0;MQ=59.16;MQ0=0;MQRankSum=-1.349;QD=14.3;ReadPosRankSum=-0.757;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_3_178976736_178977679;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KCNMB3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000392686 GT:AD:DP:GQ:PL 0/1:24,31:55:99:817,0,746
3 178976821 rs11720935 G A 1093.09 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.582;DB;DP=60;Dels=0.0;FS=3.67;HRun=0;HaplotypeScore=0.9998;MQ=59.23;MQ0=0;MQRankSum=-0.208;QD=18.22;ReadPosRankSum=0.301;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KCNMB3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000349697 GT:AD:DP:GQ:PL 0/1:24,36:60:99:1123,0,682
3 178977111 rs2160756 G T 603.39 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=33.52;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_3_178976736_178977679;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KCNMB3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000392686 GT:AD:DP:GQ:PL 1/1:0,18:18:48.15:636,48,0
3 178977844 rs7613411 G C 1130.22 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.95;MQ0=0;QD=33.24;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KCNMB3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000349697 GT:AD:DP:GQ:PL 1/1:1,33:34:87.25:1163,87,0
3 178978078 rs62410370 T G 700.69 PASS AB=0.59;AC=1;AF=0.50;AN=2;BaseQRankSum=3.116;DB;DP=61;Dels=0.0;FS=2.22;HRun=1;HaplotypeScore=0.0;MQ=59.18;MQ0=0;MQRankSum=-0.081;QD=11.49;ReadPosRankSum=0.902;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KCNMB3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000349697 GT:AD:DP:GQ:PL 0/1:36,25:61:99:731,0,1089
3 178978328 rs62410371 C T 453.09 PASS AB=0.595;AC=1;AF=0.50;AN=2;BaseQRankSum=1.81;DB;DP=37;Dels=0.0;FS=10.184;HRun=1;HaplotypeScore=0.9973;MQ=58.87;MQ0=0;MQRankSum=0.294;QD=12.25;ReadPosRankSum=0.51;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KCNMB3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000349697 GT:AD:DP:GQ:PL 0/1:22,15:37:99:483,0,617
3 178984575 rs7612684 A G 96.08 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=0.937;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.55;QD=13.73;ReadPosRankSum=0.0;SNPEFF_EFFECT=UTR_5_PRIME;SNPEFF_EXON_ID=exon_3_178984437_178984759;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=KCNMB3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000349697 GT:AD:DP:GQ:PL 0/1:3,4:7:78.98:126,0,79
3 179051472 rs35983049 A G 532.01 PASS AB=0.568;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.995;DB;DP=44;Dels=0.0;FS=1.192;HRun=0;HaplotypeScore=1.9995;MQ=59.15;MQ0=0;MQRankSum=0.687;QD=12.09;ReadPosRankSum=0.403;SNPEFF_AMINO_ACID_CHANGE=E240;SNPEFF_CODON_CHANGE=gaA/gaG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_179051057_179053323;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZNF639;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000326361 GT:AD:DP:GQ:PL 0/1:25,19:44:99:562,0,798
3 179076947 rs1966448 C T 43.98 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=3;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.736;QD=14.66;ReadPosRankSum=0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MFN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263969 GT:AD:DP:GQ:PL 0/1:1,2:3:25.32:74,0,25
3 179081999 rs76221947 A C 58.67 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=0.937;DB;DP=7;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.62;MQ0=0;MQRankSum=-0.937;QD=8.38;ReadPosRankSum=0.55;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MFN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467174 GT:AD:DP:GQ:PL 0/1:4,3:7:88.66:89,0,144
3 179092989 rs9865666 C T 589.50 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9983;MQ=57.39;MQ0=0;QD=32.75;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MFN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263969 GT:AD:DP:GQ:PL 1/1:0,18:18:48.15:623,48,0
3 179096508 rs7637065 C G 814.45 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.33;SNPEFF_AMINO_ACID_CHANGE=P523R;SNPEFF_CODON_CHANGE=cCt/cGt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_179096373_179096602;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MFN1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000263969 GT:AD:DP:GQ:PL 1/1:0,26:26:66.20:847,66,0
3 179103264 rs151251999 CAT C 772.90 PASS AB=0.62;AC=1;AF=0.50;AN=2;BaseQRankSum=3.86;DB;DP=31;FS=0.0;HRun=0;HaplotypeScore=113.3625;IndelType=D;MQ=59.61;MQ0=0;MQRankSum=-0.888;QD=24.93;ReadPosRankSum=-0.599;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MFN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263969 GT:AD:DP:GQ:PL 0/1:12,19:31:99:812,0,545
3 179103342 rs75719342 C CT 2160.18 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.979;DB;DP=77;FS=0.0;HRun=9;HaplotypeScore=215.832;IndelType=I;MQ=59.08;MQ0=0;MQRankSum=1.481;QD=28.05;ReadPosRankSum=-0.025;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MFN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263969 GT:AD:DP:GQ:PL 1/1:10,67:77:99:2202,181,0
3 179109735 rs2287209 A G 691.05 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MFN1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263969 GT:AD:DP:GQ:PL 1/1:0,20:20:54.18:724,54,0
3 179122918 rs2287310 T C 335.38 PASS AB=0.286;AC=1;AF=0.50;AN=2;BaseQRankSum=0.636;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.7887;MQ=60.0;MQ0=0;MQRankSum=1.061;QD=23.96;ReadPosRankSum=0.071;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GNB4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000232564 GT:AD:DP:GQ:PL 0/1:4,10:14:99:365,0,126
3 179131652 rs2287212 A T 119.70 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=8;Dels=0.0;FS=0.0;HRun=5;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.589;QD=14.96;ReadPosRankSum=0.572;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GNB4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000497513 GT:AD:DP:GQ:PL 0/1:2,6:8:61.40:150,0,61
3 179132515 rs79503118 C CTA 1398.55 PASS AB=0.677;AC=1;AF=0.50;AN=2;BaseQRankSum=-5.345;DB;DP=63;FS=0.0;HRun=0;HaplotypeScore=164.9079;IndelType=I;MQ=59.68;MQ0=0;MQRankSum=0.099;QD=22.2;ReadPosRankSum=-1.478;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GNB4;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000497513 GT:AD:DP:GQ:PL 0/1:33,30:63:99:1438,0,1034
3 179137273 rs1362650 A G 1883.89 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.501;DB;DP=60;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.62;MQ0=0;MQRankSum=0.404;QD=31.4;ReadPosRankSum=-1.213;SNPEFF_AMINO_ACID_CHANGE=S39;SNPEFF_CODON_CHANGE=tcT/tcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_179137187_179137293;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=GNB4;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000232564 GT:AD:DP:GQ:PL 1/1:1,59:60:99:1917,111,0
3 179288086 rs12632721 C T 351.66 PASS AB=0.52;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.441;DB;DP=25;Dels=0.0;FS=2.269;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.027;QD=14.07;ReadPosRankSum=-0.408;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACTL6A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000490364 GT:AD:DP:GQ:PL 0/1:13,12:25:99:382,0,468
3 179291308 rs113012499 CT C 322.30 PASS AC=2;AF=1.00;AN=2;DB;DP=24;FS=0.0;HRun=12;HaplotypeScore=105.8247;IndelType=D;MQ=58.46;MQ0=0;QD=13.43;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACTL6A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000490364 GT:AD:DP:GQ:PL 1/1:9,15:24:41.97:364,42,0
3 179294352 rs2292907 C A 578.23 PASS AB=0.561;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.428;DB;DP=41;Dels=0.0;FS=1.949;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.591;QD=14.1;ReadPosRankSum=-0.88;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACTL6A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000467383 GT:AD:DP:GQ:PL 0/1:23,18:41:99:608,0,807
3 179298584 rs138102554 CT C 376.11 PASS AB=0.652;AC=1;AF=0.50;AN=2;BaseQRankSum=2.783;DB;DP=45;FS=3.025;HRun=12;HaplotypeScore=133.6406;IndelType=D;MQ=60.21;MQ0=0;MQRankSum=0.902;QD=8.36;ReadPosRankSum=-0.546;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACTL6A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463661 GT:AD:DP:GQ:PL 0/1:21,24:45:99:415,0,420
3 179298999 rs1132429 C T 2071.78 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9967;MQ=59.31;MQ0=0;QD=33.96;SNPEFF_AMINO_ACID_CHANGE=D297;SNPEFF_CODON_CHANGE=gaC/gaT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_179298928_179299008;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACTL6A;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000392662 GT:AD:DP:GQ:PL 1/1:0,61:61:99:2105,159,0
3 179304514 rs61086485 G A 305.01 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.925;DB;DP=12;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.05;MQ0=0;MQRankSum=1.294;QD=25.42;ReadPosRankSum=0.925;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACTL6A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484312 GT:AD:DP:GQ:PL 0/1:3,9:12:81.19:335,0,81
3 179305626 rs79000506 G A 141.15 PASS AB=0.375;AC=1;AF=0.50;AN=2;BaseQRankSum=1.517;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=57.05;MQ0=0;MQRankSum=0.322;QD=17.64;ReadPosRankSum=0.322;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACTL6A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484312 GT:AD:DP:GQ:PL 0/1:3,5:8:99:171,0,100
3 179305654 rs6443659 A T 130.55 PASS AB=0.056;AC=1;AF=0.50;AN=2;BaseQRankSum=0.964;DB;DP=18;Dels=0.0;FS=0.0;HRun=6;HaplotypeScore=0.9993;MQ=58.71;MQ0=0;MQRankSum=0.385;QD=7.25;ReadPosRankSum=-1.349;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ACTL6A;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000484312 GT:AD:DP:GQ:PL 0/1:1,17:18:15.93:160,0,16
3 179306775 rs10513762 C T 908.38 PASS AB=0.462;AC=1;AF=0.50;AN=2;BaseQRankSum=3.0;DB;DP=52;Dels=0.0;FS=2.573;HRun=0;HaplotypeScore=0.9789;MQ=59.28;MQ0=0;MQRankSum=0.994;QD=17.47;ReadPosRankSum=0.312;SNPEFF_AMINO_ACID_CHANGE=R103H;SNPEFF_CODON_CHANGE=cGt/cAt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_179306619_179306783;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MRPL47;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000392659 GT:AD:DP:GQ:PL 0/1:24,28:52:99:938,0,675
3 179320682 rs16830629 G A 409.96 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.902;DB;DP=21;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.037;QD=19.52;ReadPosRankSum=-0.56;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MRPL47;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259038 GT:AD:DP:GQ:PL 0/1:7,14:21:99:440,0,235
3 179322385 rs2339844 A C 1519.08 PASS AB=0.496;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.193;DB;DP=119;Dels=0.0;FS=5.854;HRun=1;HaplotypeScore=1.7883;MQ=59.06;MQ0=0;MQRankSum=-0.408;QD=12.77;ReadPosRankSum=-1.162;SNPEFF_AMINO_ACID_CHANGE=C10G;SNPEFF_CODON_CHANGE=Tgt/Ggt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_179322315_179322428;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MRPL47;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000259038 GT:AD:DP:GQ:PL 0/1:59,60:119:99:1549,0,1765
3 179332901 rs180977794 T A 213.58 PASS AB=0.586;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.166;DB;DP=29;Dels=0.0;FS=0.0;HRun=6;HaplotypeScore=0.9867;MQ=60.0;MQ0=0;MQRankSum=0.509;QD=7.36;ReadPosRankSum=-1.572;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=retained_intron;SNPEFF_GENE_NAME=NDUFB5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000259037 GT:AD:DP:GQ:PL 0/1:17,12:29:99:244,0,613
3 179399570 rs13080037 C T 671.01 PASS AB=0.389;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.19;DB;DP=36;Dels=0.0;FS=2.915;HRun=1;HaplotypeScore=0.6651;MQ=59.36;MQ0=0;MQRankSum=-0.373;QD=18.64;ReadPosRankSum=-0.99;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263966 GT:AD:DP:GQ:PL 0/1:14,22:36:99:701,0,456
3 179439466 rs2119898 T C 143.10 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=1.589;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.067;QD=17.89;ReadPosRankSum=-1.067;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263966 GT:AD:DP:GQ:PL 0/1:2,6:8:40.61:173,0,41
3 179448066 rs67681638 AT A 793.56 PASS AC=2;AF=1.00;AN=2;DB;DP=40;FS=0.0;HRun=11;HaplotypeScore=108.6359;IndelType=D;MQ=61.04;MQ0=0;QD=19.84;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263966 GT:AD:DP:GQ:PL 1/1:6,34:40:99:836,102,0
3 179448383 rs3213761 C T 191.66 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.61;DB;DP=20;Dels=0.0;FS=2.304;HRun=3;HaplotypeScore=0.6651;MQ=60.0;MQ0=0;MQRankSum=-0.041;QD=9.58;ReadPosRankSum=-0.454;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263966 GT:AD:DP:GQ:PL 0/1:12,8:20:99:222,0,391
3 179457831 . T C 76.84 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DP=5;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.231;QD=15.37;ReadPosRankSum=-0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263966 GT:AD:DP:GQ:PL 0/1:2,3:5:67.96:107,0,68
3 179463076 rs58527921 A G 225.51 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=2.069;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9867;MQ=60.0;MQ0=0;MQRankSum=0.337;QD=13.27;ReadPosRankSum=-1.395;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263966 GT:AD:DP:GQ:PL 0/1:8,9:17:99:255,0,261
3 179463081 rs59131484 G A 156.71 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=0.318;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9867;MQ=60.0;MQ0=0;MQRankSum=-1.482;QD=9.79;ReadPosRankSum=-0.635;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263966 GT:AD:DP:GQ:PL 0/1:9,7:16:99:187,0,318
3 179469995 rs2239639 A G 88.47 PASS AB=0.625;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.657;DB;DP=16;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.813;QD=5.53;ReadPosRankSum=0.163;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263966 GT:AD:DP:GQ:PL 0/1:10,6:16:99:118,0,352
3 179472674 rs2287240 C T 988.64 PASS AB=0.448;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.494;DB;DP=58;Dels=0.0;FS=14.743;HRun=0;HaplotypeScore=1.9454;MQ=60.0;MQ0=0;MQRankSum=-0.993;QD=17.05;ReadPosRankSum=1.634;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263966 GT:AD:DP:GQ:PL 0/1:26,32:58:99:1019,0,730
3 179472868 rs9809051 G A 112.78 PASS AB=0.167;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=6;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.736;QD=18.8;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263966 GT:AD:DP:GQ:PL 0/1:1,5:6:24.96:143,0,25
3 179474767 rs3732992 A G 573.19 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.143;DB;DP=44;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.364;QD=13.03;ReadPosRankSum=-1.537;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263966 GT:AD:DP:GQ:PL 0/1:22,22:44:99:603,0,748
3 179481971 rs60941175 CTG C 334.17 PASS AC=2;AF=1.00;AN=2;DB;DP=32;FS=0.0;HRun=0;HaplotypeScore=198.8727;IndelType=D;MQ=56.05;MQ0=0;QD=10.44;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000497155 GT:AD:DP:GQ:PL 1/1:15,11:32:46.78:376,47,0
3 179501981 rs71300409 C CA 505.62 PASS AB=0.69;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.078;DB;DP=49;FS=3.34;HRun=11;HaplotypeScore=171.2891;IndelType=I;MQ=57.67;MQ0=0;MQRankSum=0.039;QD=10.32;ReadPosRankSum=-1.033;SNPEFF_EFFECT=UTR_3_PRIME;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=USP13;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263966 GT:AD:DP:GQ:PL 0/1:27,22:49:99:545,0,314
3 179527459 rs111620765 G GAA 635.57 PASS AB=0.686;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.141;DB;DP=35;FS=0.0;HRun=11;HaplotypeScore=119.1697;IndelType=I;MQ=59.3;MQ0=0;MQRankSum=0.5;QD=18.16;ReadPosRankSum=0.54;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PEX5L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263962 GT:AD:DP:GQ:PL 0/1:18,15:35:99:675,0,268
3 179533496 rs2111397 T C 494.35 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=35.31;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PEX5L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263962 GT:AD:DP:GQ:PL 1/1:0,14:14:42.12:527,42,0
3 179592053 rs1609981 G A 480.32 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.02;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PEX5L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463761 GT:AD:DP:GQ:PL 1/1:0,15:15:39.13:513,39,0
3 179605294 rs2302741 T C 300.13 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=57.9;MQ0=0;QD=33.35;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PEX5L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263962 GT:AD:DP:GQ:PL 1/1:0,9:9:24.08:333,24,0
3 179605647 rs41265425 C A 1434.23 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;QD=37.74;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PEX5L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263962 GT:AD:DP:GQ:PL 1/1:0,38:38:99:1467,111,0
3 179620717 rs7637613 A G 93.25 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=31.08;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PEX5L;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000263962 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:125,9,0
3 180319981 rs1532485 G T 152.67 PASS AB=0.471;AC=1;AF=0.50;AN=2;BaseQRankSum=1.491;DB;DP=17;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.529;QD=8.98;ReadPosRankSum=-0.241;SNPEFF_EFFECT=START_GAINED;SNPEFF_EXON_ID=exon_3_180319918_180320210;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC14;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000296015 GT:AD:DP:GQ:PL 0/1:8,9:17:99:183,0,222
3 180325487 rs9858483 T C 820.99 PASS AB=0.559;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.611;DB;DP=68;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=1.9536;MQ=59.73;MQ0=0;MQRankSum=0.401;QD=12.07;ReadPosRankSum=0.463;SNPEFF_AMINO_ACID_CHANGE=A408;SNPEFF_CODON_CHANGE=gcT/gcC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_180325436_180325553;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=TTC14;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000296015 GT:AD:DP:GQ:PL 0/1:38,30:68:99:851,0,1141
3 180325754 rs7645817 G A 50.05 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.02;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC39;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000489868 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:81,6,0
3 180333876 rs58774466 G C 115.39 PASS AB=0.429;AC=1;AF=0.50;AN=2;BaseQRankSum=1.3;DB;DP=7;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=16.48;ReadPosRankSum=0.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC39;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273654 GT:AD:DP:GQ:PL 0/1:3,4:7:99:145,0,102
3 180334623 rs7612917 C T 1429.13 PASS AB=0.528;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.063;DB;DP=123;Dels=0.0;FS=4.372;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.452;QD=11.62;ReadPosRankSum=-0.965;SNPEFF_AMINO_ACID_CHANGE=V799;SNPEFF_CODON_CHANGE=gtG/gtA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_180334614_180334754;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC39;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000442201 GT:AD:DP:GQ:PL 0/1:65,58:123:99:1459,0,1998
3 180365043 rs72305622 T TA 245.65 PASS AB=0.778;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.611;DB;DP=42;FS=6.631;HRun=11;HaplotypeScore=122.9665;IndelType=I;MQ=58.6;MQ0=0;MQRankSum=-0.854;QD=5.85;ReadPosRankSum=0.268;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC39;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000273654 GT:AD:DP:GQ:PL 0/1:30,12:42:99:285,0,267
3 180365956 rs6769457 G A 1155.84 PASS AB=0.479;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.912;DB;DP=73;Dels=0.0;FS=1.274;HRun=0;HaplotypeScore=0.734;MQ=60.0;MQ0=0;MQRankSum=0.321;QD=15.83;ReadPosRankSum=0.197;SNPEFF_AMINO_ACID_CHANGE=S453;SNPEFF_CODON_CHANGE=agC/agT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_180365953_180366147;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CCDC39;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000442201 GT:AD:DP:GQ:PL 0/1:35,38:73:99:1186,0,1160
3 180630565 rs1805579 T C 913.19 PASS AB=0.453;AC=1;AF=0.50;AN=2;BaseQRankSum=-4.265;DB;DP=64;Dels=0.0;FS=5.474;HRun=1;HaplotypeScore=0.8321;MQ=59.64;MQ0=0;MQRankSum=-1.492;QD=14.27;ReadPosRankSum=0.417;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FXR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000305586 GT:AD:DP:GQ:PL 0/1:29,35:64:99:943,0,752
3 180650962 rs536127 G A 30.70 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=0.72;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.38;QD=5.12;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FXR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000305586 GT:AD:DP:GQ:PL 0/1:4,2:6:60.69:61,0,128
3 180680889 rs11379525 AT A 33.94 QDFilter2 AB=0.848;AC=1;AF=0.50;AN=2;BaseQRankSum=0.892;DB;DP=56;FS=0.0;HRun=18;HaplotypeScore=429.6414;IndelType=D;MQ=52.56;MQ0=0;MQRankSum=-0.018;QD=0.61;ReadPosRankSum=-0.055;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FXR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000461044 GT:AD:DP:GQ:PL 0/1:43,8:56:72.97:73,0,283
3 180689509 rs71783895 ATACT A 1054.31 PASS AB=0.689;AC=1;AF=0.50;AN=2;BaseQRankSum=5.923;DB;DP=50;FS=2.763;HRun=0;HaplotypeScore=227.994;IndelType=D;MQ=58.25;MQ0=0;MQRankSum=-1.486;QD=20.67;ReadPosRankSum=-0.887;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=FXR1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000476672 GT:AD:DP:GQ:PL 0/1:28,23:50:99:1093,0,1822
3 181417598 rs13096623 G A 579.81 PASS AB=0.463;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.625;DB;DP=41;Dels=0.0;FS=1.559;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.002;QD=14.14;ReadPosRankSum=-0.948;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=miRNA;SNPEFF_GENE_NAME=AC117415.1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000410534 GT:AD:DP:GQ:PL 0/1:19,22:41:99:610,0,592
3 182546017 rs9814205 C A 2928.49 PASS AC=2;AF=1.00;AN=2;DB;DP=79;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=59.71;MQ0=0;QD=37.07;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP11B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000323116 GT:AD:DP:GQ:PL 1/1:0,79:79:99:2961,214,0
3 182559765 rs11401208 C CA 95.42 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.286;DB;DP=20;FS=0.0;HRun=20;HaplotypeScore=300.3889;IndelType=I;MQ=39.95;MQ0=0;MQRankSum=-1.286;QD=4.77;ReadPosRankSum=-1.653;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP11B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000323116 GT:AD:DP:GQ:PL 1/1:11,6:20:7.05:136,7,0
3 182559796 . T G 32.65 HaplotypeScoreFilter13;QDFilter2 AB=0.323;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.198;DP=31;Dels=0.03;FS=0.0;HRun=2;HaplotypeScore=17.1489;MQ=44.93;MQ0=0;MQRankSum=-2.934;QD=1.02;ReadPosRankSum=3.66;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP11B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000323116 GT:AD:DP:GQ:PL 0/1:10,21:31:62.64:63,0,279
3 182563088 rs4859249 C G 43.12 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.56;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP11B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000323116 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:74,6,0
3 182575631 rs661774 G T 2065.78 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.8667;MQ=59.2;MQ0=0;QD=35.62;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP11B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000323116 GT:AD:DP:GQ:PL 1/1:0,58:58:99:2099,162,0
3 182576923 rs645597 T A 1004.95 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.614;DB;DP=29;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.39;MQ0=0;MQRankSum=1.494;QD=34.65;ReadPosRankSum=0.299;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP11B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000323116 GT:AD:DP:GQ:PL 1/1:1,28:29:78.25:1038,78,0
3 182583990 rs2272117 C T 48.82 PASS AB=0.667;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.898;DB;DP=15;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.429;QD=3.25;ReadPosRankSum=-0.551;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP11B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000323116 GT:AD:DP:GQ:PL 0/1:10,5:15:78.81:79,0,381
3 182584976 rs9853665 T C 46.56 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=23.28;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP11B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000323116 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:78,6,0
3 182587126 rs73050693 G A 262.84 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.781;DB;DP=24;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.435;QD=10.95;ReadPosRankSum=-0.966;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP11B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000323116 GT:AD:DP:GQ:PL 0/1:14,10:24:99:293,0,406
3 182589987 rs73050702 A G 91.40 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.45;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.47;QD=9.14;ReadPosRankSum=0.47;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP11B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000323116 GT:AD:DP:GQ:PL 0/1:5,5:10:99:121,0,180
3 182590354 rs771156 C T 848.40 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.0;FS=0.0;HRun=4;HaplotypeScore=0.0;MQ=59.11;MQ0=0;QD=32.63;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP11B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000323116 GT:AD:DP:GQ:PL 1/1:0,26:26:69.22:881,69,0
3 182598863 rs796406 A G 447.49 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.29;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP11B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000323116 GT:AD:DP:GQ:PL 1/1:0,12:12:36.11:480,36,0
3 182603693 rs6784314 G A 164.69 PASS AB=0.767;AC=1;AF=0.50;AN=2;BaseQRankSum=0.196;DB;DP=30;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=1.7262;MQ=58.45;MQ0=0;MQRankSum=-0.343;QD=5.49;ReadPosRankSum=-0.736;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP11B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000323116 GT:AD:DP:GQ:PL 0/1:23,7:30:99:195,0,775
3 182606979 rs643625 G A 42.84 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=47.12;MQ0=0;QD=21.42;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP11B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000323116 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:74,6,0
3 182607466 rs73054647 A T 162.21 PASS AB=0.25;AC=1;AF=0.50;AN=2;BaseQRankSum=1.067;DB;DP=8;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.8667;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=20.28;ReadPosRankSum=0.0;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP11B;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000323116 GT:AD:DP:GQ:PL 0/1:2,6:8:57.80:192,0,58
3 182614493 rs4859142 T C 1037.81 PASS AB=0.615;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.95;DB;DP=91;Dels=0.0;FS=0.867;HRun=0;HaplotypeScore=3.3494;MQ=59.54;MQ0=0;MQRankSum=0.232;QD=11.4;ReadPosRankSum=2.337;SNPEFF_AMINO_ACID_CHANGE=F211;SNPEFF_CODON_CHANGE=ttT/ttC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_182614488_182614553;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ATP11B;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000482070 GT:AD:DP:GQ:PL 0/1:56,35:91:99:1068,0,1726
3 182681740 rs4859146 C T 1287.31 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.79;SNPEFF_AMINO_ACID_CHANGE=A106;SNPEFF_CODON_CHANGE=gcG/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_182681669_182681837;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DCUN1D1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000292782 GT:AD:DP:GQ:PL 1/1:0,37:37:96.32:1320,96,0
3 182681853 rs4859147 T C 937.85 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=29.31;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=DCUN1D1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000292782 GT:AD:DP:GQ:PL 1/1:0,32:32:75.23:971,75,0
3 182735182 rs6786878 C A 1833.53 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.7887;MQ=59.54;MQ0=0;QD=36.67;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MCCC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000448585 GT:AD:DP:GQ:PL 1/1:1,49:50:99:1867,138,0
3 182735211 rs2292056 T G 514.94 PASS AB=0.514;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.047;DB;DP=37;Dels=0.0;FS=6.146;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.092;QD=13.92;ReadPosRankSum=-0.965;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MCCC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000448585 GT:AD:DP:GQ:PL 0/1:19,18:37:99:545,0,644
3 182738159 rs9834143 A C 189.47 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=56.04;MQ0=0;QD=31.58;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MCCC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000489909 GT:AD:DP:GQ:PL 1/1:0,6:6:18.05:222,18,0
3 182755209 rs2270968 T G 97.63 PASS AB=0.762;AC=1;AF=0.50;AN=2;BaseQRankSum=0.124;DB;DP=21;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.124;QD=4.65;ReadPosRankSum=-0.702;SNPEFF_AMINO_ACID_CHANGE=H314P;SNPEFF_CODON_CHANGE=cAc/cCc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_182755006_182755222;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MCCC1;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000392616 GT:AD:DP:GQ:PL 0/1:16,5:21:99:128,0,515
3 182757178 rs9861464 T C 38.32 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=12.77;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MCCC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265594 GT:AD:DP:GQ:PL 1/1:0,3:3:6.02:70,6,0
3 182789367 rs6785680 T C 51.16 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=25.58;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MCCC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000486226 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:82,6,0
3 182790249 rs7622479 G A 2016.36 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;QD=34.18;SNPEFF_AMINO_ACID_CHANGE=L132;SNPEFF_CODON_CHANGE=ctC/ctT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_182790154_182790275;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MCCC1;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000265594 GT:AD:DP:GQ:PL 1/1:0,59:59:99:2049,153,0
3 182804385 rs6806083 G A 37.42 PASS AB=0.6;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.358;QD=7.48;ReadPosRankSum=0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MCCC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265594 GT:AD:DP:GQ:PL 0/1:3,2:5:67.41:67,0,111
3 182810144 rs3732604 T G 153.60 PASS AB=0.682;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.736;DB;DP=22;Dels=0.0;FS=2.817;HRun=1;HaplotypeScore=0.9933;MQ=60.0;MQ0=0;MQRankSum=0.211;QD=6.98;ReadPosRankSum=0.423;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MCCC1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000473955 GT:AD:DP:GQ:PL 0/1:15,7:22:99:184,0,520
3 182853670 rs482912 T C 2938.52 PASS AB=0.479;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.309;DB;DP=193;DS;Dels=0.0;FS=5.487;HRun=0;HaplotypeScore=1.7234;MQ=59.9;MQ0=0;MQRankSum=-0.206;QD=15.23;ReadPosRankSum=-0.81;SNPEFF_AMINO_ACID_CHANGE=I294V;SNPEFF_CODON_CHANGE=Att/Gtt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_182853505_182853675;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMP3;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000466939 GT:AD:DP:GQ:PL 0/1:92,100:193:99:2969,0,2911
3 182858287 rs522235 C T 553.80 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=0.407;DB;DP=46;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=55.32;MQ0=0;MQRankSum=1.222;QD=12.04;ReadPosRankSum=0.716;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265598 GT:AD:DP:GQ:PL 0/1:25,20:46:99:584,0,522
3 182858461 rs831256 A G 301.25 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.458;DB;DP=22;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=56.78;MQ0=0;MQRankSum=1.725;QD=13.69;ReadPosRankSum=-0.739;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000265598 GT:AD:DP:GQ:PL 0/1:11,11:22:99:331,0,343
3 182870082 rs682396 G A 1094.90 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.22;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470251 GT:AD:DP:GQ:PL 1/1:0,32:32:87.26:1128,87,0
3 182870436 rs514636 G A 851.99 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=37.04;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000470251 GT:AD:DP:GQ:PL 1/1:0,23:23:66.21:885,66,0
3 182871962 rs653316 C T 943.35 PASS AB=0.492;AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DB;DP=63;Dels=0.0;FS=5.067;HRun=1;HaplotypeScore=2.2859;MQ=60.0;MQ0=0;MQRankSum=0.928;QD=14.97;ReadPosRankSum=-0.584;SNPEFF_AMINO_ACID_CHANGE=A65;SNPEFF_CODON_CHANGE=gcG/gcA;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_182871470_182872179;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMP3;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000466939 GT:AD:DP:GQ:PL 0/1:31,32:63:99:973,0,836
3 182872318 rs2280563 C T 87.94 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=21.98;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=LAMP3;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000486686 GT:AD:DP:GQ:PL 1/1:0,4:4:9.03:120,9,0
3 182912991 . TA T 826.99 PASS AB=0.694;AC=1;AF=0.50;AN=2;BaseQRankSum=7.509;DP=86;FS=2.932;HRun=7;HaplotypeScore=357.0242;IndelType=D;MQ=60.61;MQ0=0;MQRankSum=-0.328;QD=9.62;ReadPosRankSum=-1.371;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MCF2L2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328913 GT:AD:DP:GQ:PL 0/1:48,38:86:99:866,0,1485
3 182913092 rs577136 T G 2076.40 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=59.63;MQ0=0;QD=32.96;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MCF2L2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328913 GT:AD:DP:GQ:PL 1/1:0,62:63:99:2109,168,0
3 182925404 rs6804951 T C 1994.86 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.8941;MQ=60.0;MQ0=0;QD=33.81;SNPEFF_AMINO_ACID_CHANGE=T902A;SNPEFF_CODON_CHANGE=Acc/Gcc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_182925396_182925611;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MCF2L2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000328913 GT:AD:DP:GQ:PL 1/1:0,59:59:99:2028,147,0
3 182933562 rs3821522 C T 34.51 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=47.12;MQ0=0;QD=17.26;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MCF2L2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328913 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:66,6,0
3 182937604 . ATAGT A 519.10 PASS AB=0.714;AC=1;AF=0.50;AN=2;BaseQRankSum=3.112;DP=30;FS=0.0;HRun=0;HaplotypeScore=141.9865;IndelType=D;MQ=57.61;MQ0=0;MQRankSum=-1.249;QD=17.3;ReadPosRankSum=1.376;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MCF2L2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328913 GT:AD:DP:GQ:PL 0/1:18,12:30:99:558,0,1320
3 182946002 rs6803121 A G 178.42 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=22.3;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MCF2L2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000437431 GT:AD:DP:GQ:PL 1/1:0,8:8:15.05:211,15,0
3 182947413 rs1122143 C G 2302.27 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.8321;MQ=59.58;MQ0=0;QD=34.88;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MCF2L2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000437431 GT:AD:DP:GQ:PL 1/1:1,65:66:99:2335,177,0
3 182987515 rs3811732 G A 641.10 PASS AB=0.457;AC=1;AF=0.50;AN=2;BaseQRankSum=4.752;DB;DP=35;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.47;MQ0=0;MQRankSum=1.11;QD=18.32;ReadPosRankSum=-0.451;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=B3GNT5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000477699 GT:AD:DP:GQ:PL 0/1:16,19:35:99:671,0,432
3 183006918 rs3732602 A G 180.52 PASS AB=0.682;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.709;DB;DP=22;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.9665;MQ=56.78;MQ0=0;MQRankSum=-1.529;QD=8.21;ReadPosRankSum=-0.112;SNPEFF_AMINO_ACID_CHANGE=F125S;SNPEFF_CODON_CHANGE=tTt/tCt;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_183006908_183007008;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MCF2L2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000437431 GT:AD:DP:GQ:PL 0/1:15,7:22:99:211,0,412
3 183007015 rs3732601 G A 54.94 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=1.791;DB;DP=13;Dels=0.0;FS=7.404;HRun=2;HaplotypeScore=1.7753;MQ=49.54;MQ0=0;MQRankSum=-2.424;QD=4.23;ReadPosRankSum=0.101;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MCF2L2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328913 GT:AD:DP:GQ:PL 0/1:7,6:13:84.94:85,0,188
3 183007021 rs3732600 G A 57.60 PASS AB=0.583;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.0;DB;DP=12;Dels=0.0;FS=7.404;HRun=0;HaplotypeScore=1.7753;MQ=48.57;MQ0=0;MQRankSum=-1.0;QD=4.8;ReadPosRankSum=-0.831;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MCF2L2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328913 GT:AD:DP:GQ:PL 0/1:7,5:12:87.59:88,0,203
3 183007040 rs3732598 A G 73.69 PASS AB=0.556;AC=1;AF=0.50;AN=2;BaseQRankSum=1.307;DB;DP=9;Dels=0.0;FS=3.522;HRun=0;HaplotypeScore=0.734;MQ=50.58;MQ0=0;MQRankSum=0.361;QD=8.19;ReadPosRankSum=0.729;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MCF2L2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328913 GT:AD:DP:GQ:PL 0/1:5,4:9:99:104,0,137
3 183007057 rs3732597 T C 62.52 PASS AB=0.571;AC=1;AF=0.50;AN=2;BaseQRankSum=0.55;DB;DP=7;Dels=0.0;FS=3.68;HRun=1;HaplotypeScore=0.0;MQ=55.22;MQ0=0;MQRankSum=0.937;QD=8.93;ReadPosRankSum=0.55;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MCF2L2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328913 GT:AD:DP:GQ:PL 0/1:4,3:7:92.51:93,0,135
3 183007096 rs3732596 C T 39.85 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.026;QD=9.96;ReadPosRankSum=-1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MCF2L2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328913 GT:AD:DP:GQ:PL 0/1:2,2:4:56.16:70,0,56
3 183007107 rs115012491 C T 39.04 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.358;DB;DP=5;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9894;MQ=58.14;MQ0=0;MQRankSum=-1.231;QD=7.81;ReadPosRankSum=-0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MCF2L2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328913 GT:AD:DP:GQ:PL 0/1:2,3:5:69.04:69,0,71
3 183007124 rs76222713 C G 82.43 PASS AB=0.4;AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=58.14;MQ0=0;MQRankSum=0.358;QD=16.49;ReadPosRankSum=0.358;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MCF2L2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328913 GT:AD:DP:GQ:PL 0/1:2,3:5:67.19:112,0,67
3 183007152 rs78359503 C G 48.72 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=3;HaplotypeScore=0.0;MQ=55.23;MQ0=0;QD=24.36;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MCF2L2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328913 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:80,6,0
3 183014704 rs144178181 A G 238.94 PASS AB=0.474;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.633;DB;DP=19;Dels=0.0;FS=2.35;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-0.531;QD=12.58;ReadPosRankSum=-0.531;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=B3GNT5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000480551 GT:AD:DP:GQ:PL 0/1:9,10:19:99:269,0,285
3 183017713 rs2293202 A C 265.09 PASS AB=0.333;AC=1;AF=0.50;AN=2;BaseQRankSum=-2.511;DB;DP=15;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.5784;MQ=60.0;MQ0=0;MQRankSum=0.551;QD=17.67;ReadPosRankSum=-1.041;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=B3GNT5;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000462559 GT:AD:DP:GQ:PL 0/1:5,10:15:99:295,0,174
3 183017965 rs2293203 T A 159.49 PASS AB=0.684;AC=1;AF=0.50;AN=2;BaseQRankSum=0.983;DB;DP=19;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.983;QD=8.39;ReadPosRankSum=0.234;SNPEFF_AMINO_ACID_CHANGE=Q378L;SNPEFF_CODON_CHANGE=cAg/cTg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_183017793_183017984;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MCF2L2;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000328913 GT:AD:DP:GQ:PL 0/1:13,6:19:99:189,0,427
3 183028843 rs41488945 T G 1781.88 PASS AB=0.49;AC=1;AF=0.50;AN=2;BaseQRankSum=1.756;DB;DP=104;Dels=0.0;FS=0.815;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=1.138;QD=17.13;ReadPosRankSum=0.858;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MCF2L2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328913 GT:AD:DP:GQ:PL 0/1:51,53:104:99:1812,0,1608
3 183056541 rs6772530 A C 359.95 PASS AB=0.381;AC=1;AF=0.50;AN=2;BaseQRankSum=0.326;DB;DP=21;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.7887;MQ=58.89;MQ0=0;MQRankSum=-0.833;QD=17.14;ReadPosRankSum=0.181;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MCF2L2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000482017 GT:AD:DP:GQ:PL 0/1:8,13:21:99:390,0,268
3 183059540 rs5854975 C CT 272.95 PASS AB=0.533;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.747;DB;DP=8;FS=0.0;HRun=0;HaplotypeScore=15.3201;IndelType=I;MQ=60.0;MQ0=0;MQRankSum=0.747;QD=34.12;ReadPosRankSum=-0.747;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MCF2L2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000328913 GT:AD:DP:GQ:PL 0/1:1,7:8:17.91:312,0,18
3 183210972 rs1001190 T C 1033.08 PASS AB=0.563;AC=1;AF=0.50;AN=2;BaseQRankSum=2.196;DB;DP=87;Dels=0.0;FS=2.123;HRun=0;HaplotypeScore=3.3304;MQ=59.74;MQ0=0;MQRankSum=-1.03;QD=11.87;ReadPosRankSum=0.596;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KLHL6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341319 GT:AD:DP:GQ:PL 0/1:49,38:87:99:1063,0,1555
3 183210991 rs1979983 G T 987.83 PASS AB=0.609;AC=1;AF=0.50;AN=2;BaseQRankSum=0.879;DB;DP=87;Dels=0.0;FS=4.415;HRun=1;HaplotypeScore=1.3302;MQ=59.74;MQ0=0;MQRankSum=0.57;QD=11.35;ReadPosRankSum=1.071;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KLHL6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341319 GT:AD:DP:GQ:PL 0/1:53,34:87:99:1018,0,1606
3 183211687 rs3821514 G C 79 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.988;DB;DP=6;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=-1.537;QD=13.17;ReadPosRankSum=0.406;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KLHL6;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000341319 GT:AD:DP:GQ:PL 0/1:3,3:6:99:109,0,103
3 183211906 rs1520101 A G 1519.44 PASS AB=0.538;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.034;DB;DP=119;Dels=0.0;FS=0.691;HRun=0;HaplotypeScore=1.6229;MQ=59.69;MQ0=0;MQRankSum=-0.445;QD=12.77;ReadPosRankSum=-1.204;SNPEFF_AMINO_ACID_CHANGE=N437;SNPEFF_CODON_CHANGE=aaT/aaC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_183211867_183212069;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KLHL6;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000341319 GT:AD:DP:GQ:PL 0/1:64,55:119:99:1549,0,1958
3 183368005 rs3755649 G A 130.46 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=32.62;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KLHL24;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000242810 GT:AD:DP:GQ:PL 1/1:0,4:4:12.04:163,12,0
3 183368216 rs3755648 A T 1797.24 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.734;MQ=59.32;MQ0=0;QD=32.68;SNPEFF_AMINO_ACID_CHANGE=R24;SNPEFF_CODON_CHANGE=cgA/cgT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_183368084_183369064;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KLHL24;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000242810 GT:AD:DP:GQ:PL 1/1:0,55:55:99:1830,141,0
3 183368891 rs2293031 C T 1219.07 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=38.1;SNPEFF_AMINO_ACID_CHANGE=H249;SNPEFF_CODON_CHANGE=caC/caT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_183368084_183369064;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KLHL24;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000242810 GT:AD:DP:GQ:PL 1/1:0,32:32:93.29:1252,93,0
3 183390418 rs55790174 C T 90.16 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=30.05;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=KLHL24;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000475827 GT:AD:DP:GQ:PL 1/1:0,3:3:9.03:122,9,0
3 183432983 rs3736535 C T 991.91 PASS AB=0.589;AC=1;AF=0.50;AN=2;BaseQRankSum=5.241;DB;DP=90;Dels=0.0;FS=1.762;HRun=0;HaplotypeScore=0.9734;MQ=59.49;MQ0=0;MQRankSum=0.879;QD=11.02;ReadPosRankSum=-0.626;SNPEFF_AMINO_ACID_CHANGE=T11;SNPEFF_CODON_CHANGE=acC/acT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_183432932_183433050;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=YEATS2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000305135 GT:AD:DP:GQ:PL 0/1:53,37:90:99:1022,0,1484
3 183439972 rs3841649 A AG 149.84 PASS AB=0.773;AC=1;AF=0.50;AN=2;BaseQRankSum=-3.215;DB;DP=17;FS=0.0;HRun=0;HaplotypeScore=39.1309;IndelType=I;MQ=60.0;MQ0=0;MQRankSum=-1.107;QD=8.81;ReadPosRankSum=1.212;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=YEATS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000305135 GT:AD:DP:GQ:PL 0/1:12,5:17:99:189,0,453
3 183469776 rs78367628 C T 437.19 PASS AB=0.543;AC=1;AF=0.50;AN=2;BaseQRankSum=0.878;DB;DP=35;Dels=0.0;FS=3.399;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;MQRankSum=0.447;QD=12.49;ReadPosRankSum=0.513;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=YEATS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000305135 GT:AD:DP:GQ:PL 0/1:19,16:35:99:467,0,691
3 183491720 rs262960 T C 343.88 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.39;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=YEATS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000305135 GT:AD:DP:GQ:PL 1/1:0,10:10:30.08:377,30,0
3 183493991 rs2606220 G A 171.69 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=34.34;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=YEATS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000305135 GT:AD:DP:GQ:PL 1/1:0,5:5:15.05:204,15,0
3 183504202 rs111421206 C CTT 202.64 PASS AB=0.684;AC=1;AF=0.50;AN=2;BaseQRankSum=-1.203;DB;DP=13;FS=0.0;HRun=10;HaplotypeScore=40.676;IndelType=I;MQ=58.2;MQ0=0;MQRankSum=-0.573;QD=15.59;ReadPosRankSum=2.054;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=YEATS2;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000305135 GT:AD:DP:GQ:PL 0/1:7,6:13:61.39:242,0,61
3 183521939 rs34612765 C T 1147.26 PASS AB=0.414;AC=1;AF=0.50;AN=2;BaseQRankSum=-0.164;DB;DP=70;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=1.7339;MQ=59.67;MQ0=0;MQRankSum=1.368;QD=16.39;ReadPosRankSum=-0.504;SNPEFF_AMINO_ACID_CHANGE=S1249;SNPEFF_CODON_CHANGE=tcC/tcT;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_183521775_183521976;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=YEATS2;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000305135 GT:AD:DP:GQ:PL 0/1:29,41:70:99:1177,0,864
3 183535763 rs897604 A G 1028.34 PASS AB=0.351;AC=1;AF=0.50;AN=2;BaseQRankSum=2.056;DB;DP=57;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.522;MQ=58.7;MQ0=0;MQRankSum=1.986;QD=18.04;ReadPosRankSum=1.653;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAP6D1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463801 GT:AD:DP:GQ:PL 0/1:20,37:57:99:1058,0,454
3 183536063 rs894000 T C 273.72 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=60.0;MQ0=0;QD=27.37;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=MAP6D1;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000463801 GT:AD:DP:GQ:PL 1/1:0,10:10:27.06:307,27,0
3 183551733 rs2305666 A C 34.26 PASS AB=0.5;AC=1;AF=0.50;AN=2;BaseQRankSum=0.0;DB;DP=4;Dels=0.0;FS=0.0;HRun=1;HaplotypeScore=0.9998;MQ=60.0;MQ0=0;MQRankSum=0.0;QD=8.57;ReadPosRankSum=-1.026;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PARL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000311101 GT:AD:DP:GQ:PL 0/1:2,2:4:64.26:64,0,66
3 183558402 rs3732581 C G 474.96 PASS AB=0.412;AC=1;AF=0.50;AN=2;BaseQRankSum=2.817;DB;DP=34;Dels=0.0;FS=3.051;HRun=1;HaplotypeScore=0.9992;MQ=60.0;MQ0=0;MQRankSum=-0.087;QD=13.97;ReadPosRankSum=0.227;SNPEFF_AMINO_ACID_CHANGE=V212L;SNPEFF_CODON_CHANGE=Gtg/Ctg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_183558358_183558428;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PARL;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000311101 GT:AD:DP:GQ:PL 0/1:14,20:34:99:505,0,333
3 183558581 rs12636826 G C 42.84 PASS AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=0.0;MQ=47.12;MQ0=0;QD=21.42;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PARL;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000311101 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:74,6,0
3 183560195 rs13091 A G 1562.13 PASS AB=0.403;AC=1;AF=0.50;AN=2;BaseQRankSum=0.628;DB;DP=77;Dels=0.0;FS=0.0;HRun=0;HaplotypeScore=2.9063;MQ=60.0;MQ0=0;MQRankSum=-0.888;QD=20.29;ReadPosRankSum=-0.535;SNPEFF_AMINO_ACID_CHANGE=H216;SNPEFF_CODON_CHANGE=caT/caC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_3_183560086_183560235;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=PARL;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000317096 GT:AD:DP:GQ:PL 0/1:31,46:77:99:1592,0,1014
3 183560292 rs7652031 A T 486 PASS AB=0.385;AC=1;AF=0.50;AN=2;BaseQRankSum=1.713;DB;DP=26;Dels=0.0;FS=0.0;HRun=2;HaplotypeScore=0.0;MQ=59.11;MQ0=0;MQRankSum=0.395;QD=18.69;ReadPosRankSum=0.553;SNPEFF_EFFECT=INTRON;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding